AARS 16 70252295 70289543 N . Y N -1.423179283 3.785379406 4.68E-05 74.1 DM Charcot-Marie-Tooth disease, axonal, type 2N, 613287 (3); Epileptic encephalopathy, early infantile, 29, 616339 (3) AATF 17 36948875 37056871 Y . Y N -0.079227978 43.69392834 1.62E-07 85.5 . . ABCA1 9 104781002 104928237 Y Lethal Y N -1.671315318 2.558314522 0.001658803 62.6 DM Tangier disease, 205400 (3); HDL deficiency, type 2, 604091 (3); {Coronary artery disease in familial hypercholesterolemia, protection against}, 143890 (3) ABCA12 2 214931542 215138428 Y . Y N -1.128777949 6.297389593 2.02E-07 85.1 DM Ichthyosis, congenital, autosomal recessive 4A, 601277 (3); Ichthyosis, autosomal recessive 4B (harlequin), 242500 (3) ABCA3 16 2275881 2340746 Y . Y N -0.990061823 8.016438039 7.48E-08 86.5 DM Surfactant metabolism dysfunction, pulmonary, 3, 610921 (3) ABCB10 1 229516582 229558695 Y . Y N -0.140208598 39.40498929 7.95E-06 78.6 . . ABCB11 2 168922938 169031322 N Subviable Y N -0.728847204 13.1909475 2.19E-10 92.4 DM Cholestasis, progressive familial intrahepatic 2, 601847 (3); Cholestasis, benign recurrent intrahepatic, 2, 605479 (3) ABCB6 2 219209768 219218990 Y . Y N 0.181920023 63.33275453 2.11E-17 98 DM Microphthalmia, isolated, with coloboma 7, 614497 (3); [Blood group, Langereis system], 111600 (3); Dyschromatosis universalis hereditaria 3, 615402 (3) ABCB7 X 75053172 75156732 Y . Y N 0.533151945 81.77345604 0.995047823 8.4 DM Anemia, sideroblastic, with ataxia, 301310 (3) ABCE1 4 145097932 145129179 Y . Y N -0.256733821 32.08311628 0.999982597 2.8 . . ABHD5 3 43690113 43734371 Y . Y N 0.126071509 59.22903282 3.45E-05 74.9 DM Chanarin-Dorfman syndrome, 275630 (3) ABI1 10 26746593 26861087 Y . Y N -0.473365526 21.30578225 0.632775183 26.6 . . ABI3BP 3 100749156 100993515 N Subviable Y N 0.372213846 74.52103953 3.94E-07 84.1 DM? . ABL1 9 130713946 130887675 Y . Y N -1.351821412 4.294727094 0.999882701 3.9 . Leukemia, Philadelphia chromosome-positive, resistant to imatinib (3) ACACA 17 37084988 37406818 Y . Y N -2.548179154 0.949238872 1 0.4 DM Acetyl-CoA carboxylase deficiency, 613933 (1) ACADL 2 210187939 210225491 Y . Y N 0.118568504 58.65022863 3.59E-08 87.4 DM . ACADM 1 75724347 75787575 Y . Y N -0.160955729 37.95219077 8.44E-10 91.2 DM Acyl-CoA dehydrogenase, medium chain, deficiency of, 201450 (3) ACAN 15 88803443 88875354 Y . Y N 2.226846545 98.88869595 0.999993945 2.3 DM Spondyloepiphyseal dysplasia, Kimberley type, 608361 (3); Spondyloepimetaphyseal dysplasia, aggrecan type, 612813 (3); Osteochondritis dissecans, short stature, and early-onset osteoarthritis, 165800 (3) ACAT2 6 159760328 159779055 N Lethal Y N -0.305426803 29.16015512 1.26E-05 77.5 DP ?ACAT2 deficiency, 614055 (1) ACBD3 1 226144679 226186730 N Lethal Y N 0.307101058 70.88036117 0.98182333 11.5 . . ACD 16 67657512 67660815 Y . Y N -0.398987743 24.49499334 5.78E-07 83.5 . ?Dyskeratosis congenita, autosomal dominant 6, 616553 (3); ?Dyskeratosis congenita, autosomal recessive 7, 616553 (3) ACE 17 63477061 63498380 Y . Y N 0.899247509 91.08062742 4.63E-18 98.2 DM {Myocardial infarction, susceptibility to} (3); {Alzheimer disease, susceptibility to}, 104300 (3); {Microvascular complications of diabetes 3}, 612624 (3); [Angiotensin I-converting enzyme, benign serum increase] (3); {SARS, progression of} (3); Renal tubular dysgenesis, 267430 (3); {Stroke, hemorrhagic}, 614519 (3) ACHE 7 100889994 100896974 Y . Y N -0.436653948 22.89170574 0.996674942 7.7 DFP [Blood group, Yt system], 112100 (3) ACKR3 2 236567787 236582358 Y Lethal Y N 0.118568504 58.65022863 0.419555702 32.3 . . ACLY 17 41866908 41930542 Y . Y N -1.679429583 2.506222145 0.99641498 7.8 DP . ACO1 9 32384603 32454769 Y . Y N -1.347312303 4.323667303 3.57E-08 87.4 . . ACSL4 X 109624244 109733403 N . Y N -0.383328502 25.24743879 0.99576765 8.1 DM Mental retardation, X-linked 63, 300387 (3) ACTA1 1 229431245 229434098 Y . Y N -0.525085865 19.18735892 0.008026632 55.9 DM Nemaline myopathy 3, autosomal dominant or recessive, 161800 (3); Myopathy, actin, congenital, with excess of thin myofilaments, 161800 (3); Myopathy, actin, congenital, with cores, 161800 (3); Myopathy, congenital, with fiber-type disproportion 1, 255310 (3) ACTB 7 5527151 5563784 Y . Y N -0.862733333 10.3316548 0.935803217 15.8 DM ?Dystonia, juvenile-onset, 607371 (3); Baraitser-Winter syndrome 1, 243310 (3) ACTC1 15 34788096 34796139 Y . Y N -0.321544247 28.21670429 0.946770309 15.1 DM Cardiomyopathy, dilated, 1R, 613424 (3); Cardiomyopathy, hypertrophic, 11, 612098 (3); Atrial septal defect 5, 612794 (3); Left ventricular noncompaction 4, 613424 (3) ACTG1 17 81509971 81523847 Y . Y N -1.625266657 2.743531863 0.218555804 38.1 DM Deafness, autosomal dominant 20/26, 604717 (3); Baraitser-Winter syndrome 2, 614583 (3) ACTL6A 3 179562880 179588408 Y . Y N 0.023748636 51.34571974 0.992221335 9.4 . . ACTL6B 7 100643097 100656461 Y . Y N -0.680738037 14.48168085 0.987130695 10.6 . . ACTN4 19 38647649 38731583 Y . Y N -1.49467414 3.391792557 0.999989805 2.5 DM Glomerulosclerosis, focal segmental, 1, 603278 (3) ACTR3 2 113889960 113962596 Y . Y N -0.305580815 29.14857904 0.998335664 6.7 . . ACTR6 12 100199122 100241865 N . Y N -0.332721412 27.59738381 0.004685943 58.4 . . ACTR8 3 53867066 53882202 N Lethal Y N -0.783715586 11.88863807 2.01E-08 88.1 . . ACVR1 2 157736444 157875862 Y Lethal Y N -0.661901927 14.98524049 0.956448193 14.2 DM Fibrodysplasia ossificans progressiva, 135100 (3) ACVR1B 12 51951667 51997078 Y Lethal Y N -0.444310324 22.50969497 0.998904331 6 DP Pancreatic cancer, somatic (3) ACVR2A 2 147844517 147930826 Y Subviable Y N 0.040668219 52.64224113 0.993932262 8.9 . . ACVR2B 3 38453851 38493142 Y Subviable Y N -1.046491279 7.246628466 0.993110896 9.1 DM Heterotaxy, visceral, 4, autosomal, 613751 (3) ACVRL1 12 51906908 51923361 Y . Y N 0.068917845 54.82433293 0.007941072 56 DM Telangiectasia, hereditary hemorrhagic, type 2, 600376 (3) ADA 20 44619522 44652233 Y . Y N 0.142034241 60.34033686 2.83E-09 90.2 DM Severe combined immunodeficiency due to ADA deficiency, 102700 (3); Adenosine deaminase deficiency, partial, 102700 (3) ADAM10 15 58588807 58749978 Y . Y N -0.576495149 17.46252243 0.999844507 4.2 DM Reticulate acropigmentation of Kitamura, 615537 (3); {Alzheimer disease 18, susceptibility to}, 615590 (3) ADAM12 10 126012381 126388455 Y . Y N -0.456952762 21.98298316 0.341608447 34.5 DP . ADAM17 2 9488486 9555792 Y . Y N -0.688892092 14.23858309 0.997367645 7.3 DM ?Inflammatory skin and bowel disease, neonatal, 1, 614328 (3) ADAM19 5 157395534 157575775 Y . Y N -0.447683782 22.39972217 4.20E-06 79.9 DM? . ADAM22 7 87934143 88202889 Y . Y N -0.51153492 19.76616311 0.999388899 5.4 DM? . ADAM23 2 206443539 206621130 Y Lethal Y N -1.054799567 7.148231753 0.995404041 8.3 . . ADAMTS1 21 26835747 26845409 Y . Y N -0.286292138 30.26567112 0.594872991 27.6 . . ADAMTS9 3 64515654 64688000 Y . Y N -1.67787526 2.529374313 4.23E-07 84 . . ADAR 1 154582062 154627999 Y Lethal Y N -1.841684809 2.06633096 0.907595373 17.5 DM Dyschromatosis symmetrica hereditaria, 127400 (3); Aicardi-Goutieres syndrome 6, 615010 (3) ADARB1 21 45073853 45226560 Y . Y N -1.414184339 3.849047867 0.843939347 20.1 FP . ADCY3 2 24819169 24919839 Y . Y N -1.494412731 3.397580598 0.001379301 63.5 DP . ADCY7 16 50246137 50318135 Y . Y N -0.40987645 23.95670545 0.017721208 52.2 . . ADCY9 16 3953387 4116185 N Subviable Y N -2.022565598 1.58013544 0.974310442 12.5 FP . ADCYAP1 18 904943 912172 Y . Y N -0.003544497 49.14626382 0.133462669 41.4 DP . ADCYAP1R1 7 31052461 31111479 Y Subviable Y N -0.568991981 17.68825606 0.001334785 63.6 . . ADD1 4 2843857 2930076 Y . Y N -0.29011822 30.06308966 0.611299256 27.2 DFP {Hypertension, essential, salt-sensitive}, 145500 (3) ADGRA2 8 37784191 37844896 N . Y N . . . . . . ADGRB1 8 142449430 142545009 N . Y N . . . . . . ADGRG6 6 142301854 142446266 N . Y N . . . . . . ADGRL2 1 81306160 81992436 N . Y N . . . . . . ADK 10 74151185 74709303 Y . Y N -0.393703195 24.72072698 0.322841314 35.1 DM Hypermethioninemia due to adenosine kinase deficiency, 614300 (3) ADM 11 10304680 10307397 Y . Y N 0.013375229 50.50645367 0.576630086 28.1 DP . ADNP 20 50888919 50931240 Y . Y N -1.502998121 3.357064305 0.9989041 6 DM? Helsmoortel-van der Aa syndrome, 615873 (3) ADRA2B 2 96112875 96116245 Y . Y N 0.311884256 71.19291544 0.000244369 69.2 DM Epilepsy, myoclonic, familial adult, 2, 607876 (3) ADRB1 10 114044056 114046908 Y . Y N -0.248273713 32.55773572 . . DP [Resting heart rate], 607276 (3); {Congestive heart failure and beta-blocker response, modifier of} (3) ADRBK1 11 67266410 67286556 Y . Y N -1.646824018 2.70301557 0.998627979 6.4 . . ADRM1 20 62302093 62308862 Y . Y N -0.477040255 21.14950512 0.981917517 11.4 . . ADSL 22 40346500 40369367 N Lethal Y N 0.100843326 57.30161486 0.000212575 69.6 DM Adenylosuccinase deficiency, 103050 (3) AEBP1 7 44104361 44114562 Y . Y N -0.568405227 17.6940441 0.000218799 69.6 . . AEBP2 12 19404045 19720801 Y . Y N -0.337507753 27.3890143 0.950982696 14.6 . . AFF1 4 86935002 87141054 Y . Y N -0.333742942 27.5279273 0.476646973 30.7 . . AFF4 5 132875379 132963634 Y . Y N -1.096809474 6.633096024 0.999997451 2 . CHOPS syndrome, 616368 (3) AFG3L2 18 12328944 12377314 Y . Y N -1.305298336 4.659373734 0.014722116 53.2 DM Spinocerebellar ataxia 28, 610246 (3); Ataxia, spastic, 5, autosomal recessive, 614487 (3) AGAP1 2 235494089 236131800 N . Y N -0.878103994 9.984372287 0.999356436 5.4 . . AGL 1 99850084 99924023 N Subviable Y N -0.439610413 22.75858077 2.31E-15 97.1 DM Glycogen storage disease IIIa, 232400 (3); Glycogen storage disease IIIb, 232400 (3) AGO2 8 140520156 140635619 Y . Y N -1.618718975 2.772472073 0.999992249 2.4 . . AGPAT2 9 136673143 136687423 Y . Y N 0.916928187 91.44527406 0.000150355 70.6 DM Lipodystrophy, congenital generalized, type 1, 608594 (3) AGPAT3 21 43865186 43986536 Y . Y N -0.360819318 26.28349829 0.994454771 8.6 . . AGPS 2 177392644 177543836 Y . Y N -0.809251878 11.37929039 0.998805102 6.1 DM Chondrodysplasia punctata, rhizomelic, type 3, 600121 (3) AGRN 1 1020123 1056118 Y . Y N 0.211924417 65.19650402 0.17335234 39.6 DM Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, 615120 (3) AGT 1 230702523 230714297 Y . Y N 0.833583749 89.88250275 1.57E-09 90.8 DM {Hypertension, essential, susceptibility to}, 145500 (3); {Preeclampsia, susceptibility to} (3); Renal tubular dysgenesis, 267430 (3) AHCTF1 1 246839098 246931978 Y . Y N -0.851158344 10.52844823 1 0.5 . . AHCY 20 34280268 34311802 N Lethal Y N -0.302555896 29.33379638 0.944069807 15.3 DM Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, 613752 (3) AHI1 6 135283532 135497776 Y . Y N 0.209215502 64.9997106 3.26E-14 96.4 DM Joubert syndrome-3, 608629 (3) AHNAK 11 62433542 62556235 N Subviable Y N 0.178196795 63.04914048 0.344567387 34.4 FTV . AHR 7 17298622 17346152 Y . Y N -0.380155411 25.4558083 0.999872137 4 DFP . AIFM1 X 130129362 130165887 Y . Y N -0.239813643 33.09023557 0.984631568 11 DM Combined oxidative phosphorylation deficiency 6, 300816 (3); Cowchock syndrome, 310490 (3) AIM1 6 106360808 106571978 N Lethal Y N 1.751306871 98.06100596 7.46E-20 98.6 . . AIMP2 7 6009245 6023834 Y . Y N -0.027663999 47.45615558 0.001463082 63.1 . . AIP 11 67483041 67491103 Y . Y N 0.248033216 67.35544365 0.673915914 25.4 DM Pituitary adenoma, growth hormone-secreting, 102200 (3); Pituitary adenoma, prolactin-secreting, 600634 (3); Pituitary adenoma, ACTH-secreting, 219090 (3) AKAP10 17 19904302 19978343 N Subviable Y N -0.078271172 4.38E+01 0.932283431 16 DP {Cardiac conduction defect, susceptibility to}, 115080 (3) AKAP13 15 85380571 85749358 Y . Y N 0.523605404 81.37408115 0.84956602 19.9 DM? . AKAP6 14 32329273 32837681 Y . Y N -1.398150214 3.924292412 0.999936668 3.4 . . AKIRIN2 6 87675072 87702209 Y . Y N 0.236554885 66.60299821 0.975340569 12.4 . . AKT1 14 104769349 104795751 Y . Y N -1.062456005 7.032470915 0.980206587 11.7 DM Breast cancer, somatic, 114480 (3); Colorectal cancer, somatic, 114500 (3); Ovarian cancer, somatic, 167000 (3); {Schizophrenia, susceptibility to}, 181500 (2); Proteus syndrome, somatic, 176920 (3); Cowden syndrome 6, 615109 (3) ALAS1 3 52198086 52214327 Y . Y N -0.339919707 27.25588933 0.907956554 17.4 . . ALAS2 X 55009055 55031064 Y . Y N 0.397138302 75.69601204 0.970654598 12.9 DM Anemia, sideroblastic, X-linked, 300751 (3); Protoporphyria, erythropoietic, X-linked, 300752 (3) ALDH18A1 10 95605929 95656706 Y . Y N -0.817405969 11.25774151 0.855933082 19.7 DM Cutis laxa, autosomal recessive, type IIIA, 219150 (3); Spastic paraplegia 9A, autosomal dominant, 601162 (3); Spastic paraplegia 9B, autosomal recessive, 616586 (3) ALDH1A2 15 57953424 58497866 Y . Y N -0.946072869 8.786247612 0.516630056 29.5 DM . ALDH1A3 15 100877714 100916626 Y . Y N -0.729431296 13.17937142 0.924100685 16.4 DM Microphthalmia, isolated 8, 615113 (3) ALDH3B1 11 68008578 68029282 N Subviable Y N . . 3.94E-05 74.6 . . ALDH5A1 6 24494852 24537207 Y . Y N 0.128941721 59.34479366 0.002904262 60.5 DM Succinic semialdehyde dehydrogenase deficiency, 271980 (3) ALG10 12 34022281 34029694 N Lethal Y N -0.14307911 39.17346762 0.005749135 57.5 . {Long QT syndrome, acquired, reduced susceptibility to}, 613688 (3) ALG13 X 111665811 111760649 Y . Y N 0.520208241 81.26410835 0.99758296 7.2 DM Congenital disorder of glycosylation, type Is, 300884 (3) ALG2 9 99216426 99221956 N Lethal Y N 0.120481978 58.76598947 0.020669245 51.5 DM ?Congenital disorder of glycosylation, type Ii, 607906 (3); Myasthenic syndrome, congenital, 14, with tubular aggregates, 616228 (3) ALG5 13 36949775 37000261 Y . Y N 0.085686282 56.13821844 0.003429975 59.8 . . ALKBH4 7 102456238 102464876 Y . Y N -0.011852785 48.56745963 0.496783561 30 . . ALOX12B 17 8072636 8087703 Y . Y N -0.759291969 12.41534989 0.173314448 39.6 DM Ichthyosis, congenital, autosomal recessive 2, 242100 (3) ALOXE3 17 8095900 8119047 Y . Y N -0.584654475 17.24257684 2.16E-13 95.8 DM Ichthyosis, congenital, autosomal recessive 3, 606545 (3) ALPL 1 21509372 21578412 Y . Y N -0.578256721 1.74E+01 0.001106496 64.3 DM Hypophosphatasia, infantile, 241500 (3); Hypophosphatasia, childhood, 241510 (3); Odontohypophosphatasia, 146300 (3); Hypophosphatasia, adult, 146300 (3) ALPP 2 232378534 232382889 Y . Y N 1.747476269 98.04942988 1.69E-06 81.6 . . ALX1 12 85280107 85301784 Y . Y N 0.320194167 71.78329571 0.60032616 27.4 DM ?Frontonasal dysplasia 3, 613456 (3) ALX3 1 110059994 110070700 Y . Y N -0.27924293 30.68241014 0.208670052 38.5 DM Frontonasal dysplasia 1, 136760 (3) ALX4 11 44260444 44310166 Y . Y N -0.185378582 36.42993575 0.234887704 37.6 DM Parietal foramina 2, 609597 (3); Frontonasal dysplasia 2, 613451 (3); {Craniosynostosis 5, susceptibility to}, 615529 (3) AMBRA1 11 46396414 46594125 Y . Y N -1.319069745 4.578341147 0.999971641 3 . . AMD1 6 110814621 110895713 Y . Y N -0.343096194 27.10540024 0.903413518 17.6 DM? . AMER1 X 64185117 64205744 Y . Y N -0.518891184 19.51727731 0.953441253 14.4 . Osteopathia striata with cranial sclerosis, 300373 (3) AMN 14 102922656 102933596 Y . Y N . . 0.092357836 43.6 DM Adrenoleukodystrophy, 300100 (3); Adrenomyeloneuropathy, adult, 300100 (3) AMOT X 112774503 112840815 Y . Y N -0.349488013 26.84493836 0.988710203 10.2 . . AMPD1 1 114673098 114695618 N Subviable Y N -0.165286254 37.70330497 3.78E-12 94.7 DM Myopathy due to myoadenylate deaminase deficiency, 615511 (3) AMT 3 49416778 49422753 Y . Y N -0.188097024 36.26208254 0.000569475 66.6 DM Glycine encephalopathy, 605899 (3) ANAPC15 11 72106378 72112780 N Lethal Y N -0.067396649 44.56792267 0.564413605 28.3 . . ANAPC2 9 137174784 137188549 Y . Y N -1.173760371 5.857498408 0.987268624 10.5 . . ANAPC4 4 25377213 25418498 N Lethal Y N -1.276238817 4.879319326 0.463847641 31 . . ANGPT1 8 107249482 107498055 Y . Y N -0.404880574 24.14192279 0.993331324 9.1 DFP . ANGPT2 8 6499651 6563409 Y . Y N -0.555747173 18.05869074 0.454891016 31.3 DM? . ANGPTL6 19 10092338 10102796 Y . Y N 0.330566867 72.36788794 2.77E-08 87.8 . . ANK1 8 41653220 41896762 Y . Y N -2.154652638 1.377553973 1 0.4 DM Spherocytosis, type 1, 182900 (3) ANK2 4 112818109 113383740 Y . Y N -2.392252797 1.059211669 1 0.2 DM Long QT syndrome 4, 600919 (3); Cardiac arrhythmia, ankyrin-B-related, 600919 (3) ANK3 10 60026298 60733490 Y . Y N -4.584447577 0.127336922 1 0.2 DM ?Mental retardation, autosomal recessive, 37, 615493 (3) ANKRD11 16 89267627 89490561 Y Lethal Y N -3.478979155 0.39358685 0.999999822 1.2 DM KBG syndrome, 148050 (3) ANKRD17 4 73073376 73258798 Y . Y N -3.917173106 0.231521676 1 0.5 . . ANKS6 9 98731329 98796965 N Lethal Y N -0.017944654 48.0523239 0.000273308 68.9 DM Nephronophthisis 16, 615382 (3) ANO1 11 70078302 70189528 Y . Y N -0.514256381 19.66197835 0.99308464 9.1 . . ANO6 12 45215987 45440404 Y . Y N -0.382876691 25.276379 4.52E-20 98.7 DM Scott syndrome, 262890 (3) ANP32B 9 97983361 98015943 Y . Y N 0.221548563 65.71742779 0.957395493 14.1 . . ANXA7 10 73375101 73414076 Y . Y N -0.049216095 45.88759623 4.62E-08 87.1 . . AP1G1 16 71729000 71809201 Y . Y N -1.274325376 4.908259536 0.999975846 3 . . AP1M1 19 16197578 16245907 Y . Y N -0.566274989 17.74613648 0.842349723 20.2 . . AP2M1 3 184174689 184184091 Y . Y N -0.109544183 41.48289634 0.993893174 8.9 . . AP3B1 5 78000525 78294755 Y . Y N -0.100478486 42.07327661 0.99538603 8.3 DM Hermansky-Pudlak syndrome 2, 608233 (3) AP3D1 19 2100988 2164465 Y . Y N -1.414597479 3.843259825 0.798002534 21.8 . . APAF1 12 98645141 98735433 Y . Y N -1.053558292 7.165595879 3.82E-05 74.6 DM . APC 5 112707498 112846239 Y . Y N -4.177706297 0.173641257 0.999999928 1.1 DM Adenomatous polyposis coli, 175100 (3); Gastric cancer, somatic, 613659 (3); Adenoma, periampullary, somatic (3); Hepatoblastoma, somatic, 114550 (3); Desmoid disease, hereditary, 135290 (3); Colorectal cancer, somatic, 114500 (3); Brain tumor-polyposis syndrome 2, 175100 (3); Gardner syndrome, 175100 (3) APEX1 14 20455191 20457772 Y . Y N -0.054957051 45.47085721 0.000103582 71.7 DM . APH1A 1 150265399 150269580 Y . Y N -0.033556726 47.03941657 0.132136062 41.5 DM? . APLNR 11 57233577 57237314 Y Subviable Y N -0.573624098 17.54355502 0.43245966 31.9 DFP . APOB 2 21001429 21044073 Y . Y N -0.75810253 12.4442901 5.49E-16 97.4 DM Hypobetalipoproteinemia, 615558 (3); Hypercholesterolemia, due to ligand-defective apo B, 144010 (3) APOH 17 66212033 66256525 Y . Y N 0.513511574 81.03837472 1.29E-10 92.8 DFP . APRT 16 88809339 88811944 Y . Y N 0.14284054 60.39821728 4.72E-10 91.8 DM Adenine phosphoribosyltransferase deficiency, 614723 (3) AQP1 7 30911855 30925516 Y . Y N 0.367125811 74.23163744 0.049925638 47 DM [Blood group, Colton], 110450 (3); [Aquaporin-1 deficiency] (3) AQP11 11 77589391 77610355 Y . Y N -0.075704275 43.9775424 0.059172047 46.1 . . AQP2 12 49950741 49958881 Y . Y N -0.557814484 17.98923424 4.18E-06 79.9 DM Diabetes insipidus, nephrogenic, 125800 (3) AQP5 12 49961870 49965681 Y . Y N 0.245163355 67.1818024 0.004385484 58.7 DM Palmoplantar keratoderma, Bothnian type, 600231 (3) ARAF X 47561100 47571920 Y . Y N 0.09510276 56.80384326 0.618988518 27 . . ARAP3 5 141653401 141682221 Y . Y N -0.360890323 26.26613417 0.967505029 13.3 . . ARC 8 142611044 142614472 Y . Y N -0.212672702 34.75719164 0.920765734 16.7 . Myoclonus, familial cortical, 614937 (3) ARF4 3 57571363 57598220 Y . Y N 0.008591214 50.15917115 0.9315625 16 FP . ARF6 14 49893092 49897054 Y . Y N -0.142427542 39.22555999 0.600609559 27.4 . . ARFGEF2 20 48921890 49036693 Y . Y N -2.123004781 1.423858309 0.999999938 1 DM Periventricular heterotopia with microcephaly, 608097 (3) ARFRP1 20 63698642 63708025 Y . Y N -0.000674037 49.38936158 0.13571756 41.3 . . ARG1 6 131573144 131584332 Y . Y N -0.232310623 33.58800718 0.000499883 67 DM Argininemia, 207800 (3) ARHGAP1 11 46677080 46700615 Y . Y N -0.016485314 48.17966082 0.185564722 39.1 . . ARHGAP18 6 129576132 129710225 Y . Y N -0.272392294 31.15124153 2.46E-06 80.9 . . ARHGAP33 19 35774532 35788822 N Subviable Y N -1.26640955 4.977716039 0.21224841 38.4 . . ARHGAP35 19 46918676 47005077 Y . Y N -2.23296014 1.238640968 0.999989835 2.5 . . ARHGAP5 14 32076114 32159728 Y . Y N -1.319895348 4.566765063 0.987053698 10.6 . . ARHGEF12 11 120336914 120489936 Y . Y N -1.511329527 3.287607802 0.999998926 1.7 DP . ARHGEF15 17 8310241 8322516 N Subviable Y N 0.346030702 73.18978989 0.004477181 58.6 DM . ARHGEF18 19 7395113 7472477 Y . Y N -0.153956776 38.47890259 0.908367516 17.4 . . ARHGEF7 13 111114559 111305737 N . Y N -1.23857148 5.203449673 0.953985931 14.4 FP . ARID1A 1 26696033 26782104 Y . Y N -2.812819468 0.706141112 0.999999997 0.7 DM Mental retardation, autosomal dominant 14, 614607 (3) ARID2 12 45729665 45908040 Y . Y N -2.157690676 1.371765932 0.999999053 1.7 . . ARID3A 19 925781 975934 Y Lethal Y N -0.341984971 27.1690687 0.425084301 32.1 . . ARID3B 15 74541177 74598131 Y . Y N 0.436717121 77.73340279 0.964041165 13.6 . . ARID4A 14 58298385 58373887 Y . Y N -1.15206604 6.065867917 0.999999263 1.6 . . ARID4B 1 235131634 235328219 Y . Y N -1.601515762 2.82456445 0.999976459 2.9 . . ARID5B 10 61901300 62096944 Y . Y N -1.032956672 7.431845807 0.999889943 3.8 . . ARIH2 3 48918821 48986382 Y . Y N -0.694787046 14.10545812 0.987412495 10.5 . . ARL13B 3 93980139 94055668 Y . Y N 0.735888798 87.75829137 1.39E-06 82.1 DM Joubert syndrome 8, 612291 (3) ARL3 10 102673731 102714407 Y . Y N 0.116504775 58.48816345 0.716101007 24.2 . . ARL8B 3 5122220 5180912 N Subviable Y N 0.100541925 57.24952249 0.622356589 26.9 . . ARMC7 17 75109952 75130265 N Subviable Y N 0.167262974 62.32563524 0.014946893 53.2 . . ARNT 1 150809705 150876768 Y . Y N -0.978806271 8.253747757 0.976348195 12.2 . . ARNT2 15 80404350 80597937 Y . Y N -1.182364428 5.764889738 0.959019738 14.1 . ?Webb-Dattani syndrome, 615926 (3) ARPC2 2 218217094 218254356 Y . Y N -0.214586899 34.6414308 0.990984292 9.7 . . ARPC3 12 110434825 110450422 Y . Y N 0.223461474 65.83897667 0.931506661 16 DM? . ARPC4 3 9792495 9807726 Y . Y N -0.074899744 44.03542282 0.937798821 15.7 . . ARRDC3 5 91368724 91383359 Y . Y N -0.467776875 21.53730393 0.978746962 12 . . ARX X 25003694 25015948 Y . Y N . . 0.753069083 23.1 DM Epileptic encephalopathy, early infantile, 1, 308350 (3); Lissencephaly, X-linked 2, 300215 (3); Mental retardation, X-linked 29 and others, 300419 (3); Proud syndrome, 300004 (3); Partington syndrome, 309510 (3); Hydranencephaly with abnormal genitalia, 300215 (3) ASAH1 8 18056425 18084985 Y . Y N 1.371136282 96.22040864 5.36E-11 93.3 DM Farber lipogranulomatosis, 228000 (3); Spinal muscular atrophy with progressive myoclonic epilepsy, 159950 (3) ASCC2 22 29788608 29838304 N Lethal Y N 0.147926643 60.87862476 0.178384956 39.4 . . ASCL1 12 102957686 102960516 Y . Y N -0.247470694 32.59246397 0.36473946 33.8 DM Central hypoventilation syndrome, congenital, 209880 (3); Haddad syndrome, 209880 (3) ASCL2 11 2268495 2270952 Y . Y N . . 0.38890041 33 . . ASF1A 6 118894220 118909167 Y Lethal Y N -0.112415198 41.29189095 0.138785137 41.2 . . ASH2L 8 38105242 38144076 Y . Y N -0.539936486 18.57961452 0.995792116 8.1 . . ASIP 20 34194569 34269344 Y . Y N 0.115548149 58.40713087 0.069626696 45.1 DP [Skin/hair/eye pigmentation 9, dark/light hair], 611742 (3); [Skin/hair/eye pigmentation 9, brown/nonbrown eyes], 611742 (3) ASL 7 66075798 66093558 Y . Y N -0.571710334 17.59564739 3.85E-08 87.3 DM Argininosuccinic aciduria, 207900 (3) ASNA1 19 12737139 12748323 Y . Y N -0.233267662 33.50118655 0.415776038 32.4 . . ASPA 17 3472374 3503419 Y . Y N 0.434654036 77.61764195 0.014880157 53.2 DM Canavan disease, 271900 (3) ASS1 9 130444929 130501274 Y . Y N -0.437610849 22.86276553 0.000493338 67.1 DM Citrullinemia, 215700 (3) ASXL1 20 32358344 32439319 Y . Y N -0.802670596 11.48926318 1.37E-18 98.3 DM Bohring-Opitz syndrome, 605039 (3); Myelodysplastic syndrome, somatic, 614286 (3) ASXL2 2 25733753 25878516 Y . Y N . . 0.992738818 9.2 . . ATAD3A 1 1512151 1534687 Y . Y N 1.104824858 93.99780054 0.040130598 48.3 . . ATAD5 17 30831970 30895869 Y . Y N -0.786835461 11.81339353 0.999999945 1 . . ATE1 10 121740421 121928801 Y . Y N -0.133662442 39.85066852 0.51135672 29.6 . . ATF2 2 175072250 175168382 Y . Y N -0.337353053 27.42374255 0.892244393 18.1 . . ATF4 22 39519695 39522685 Y . Y N 0.262233352 68.20049777 0.41146843 32.5 . . ATF5 19 49928702 49933935 Y . Y N 0.282678709 69.47965503 0.02266778 51 DP . ATF6B 6 32098176 32128253 N Subviable Y N 0.181614038 63.32696649 1.68E-06 81.7 . . ATG16L1 2 233210051 233295674 Y . Y N -0.848527708 10.5805406 0.999737383 4.5 DFP {Inflammatory bowel disease 10}, 611081 (3) ATG3 3 112532509 112562046 N Lethal Y N 0.067810037 54.72014817 0.978991921 11.9 . . ATG4B 2 241637213 241673857 Y . Y N 0.477760474 79.6550327 0.988495913 10.3 . . ATG5 6 106184476 106325820 Y . Y N -0.08703502 43.03409157 0.981561831 11.5 DM? . ATG7 3 11272309 11557665 Y . Y N -0.4543794 22.10453204 1.53E-05 77 DM . ATG9A 2 219209772 219229717 Y . Y N -0.949600934 8.728367193 0.714827713 24.2 . . ATM 11 108222484 108369102 Y . Y N -0.528912655 19.04844591 2.71E-30 99.7 DM Ataxia-telangiectasia, 208900 (3); Lymphoma, B-cell non-Hodgkin, somatic (3); {Breast cancer, susceptibility to}, 114480 (3); Lymphoma, mantle cell (3); T-cell prolymphocytic leukemia, somatic (3) ATMIN 16 81035847 81047358 Y . Y N -0.126814332 40.28477166 0.000970633 64.8 . . ATOH1 4 93828753 93830964 Y . Y N -0.411426546 23.88724894 0.767526003 22.7 . . ATOH8 2 85751344 85788066 Y . Y N -0.224807605 34.0336864 0.888203282 18.3 . . ATOX1 5 151742316 151772532 Y . Y N 0.167113525 62.29669503 0.177401579 39.4 . . ATP11A 13 112690329 112887168 Y . Y N -1.284156203 4.815650865 0.967333743 13.3 . . ATP1A1 1 116372668 116410261 Y . Y N -1.207746147 5.487063726 0.99999385 2.3 . . ATP1A2 1 160115759 160143591 Y . Y N -1.624165325 2.755107947 0.600219587 27.5 DM Migraine, familial hemiplegic, 2, 602481 (3); Alternating hemiplegia of childhood, 104290 (3); Migraine, familial basilar, 602481 (3) ATP1A3 19 41966582 41997497 Y Lethal Y N -1.45442688 3.611738149 0.999994323 2.3 DM Dystonia-12, 128235 (3); Alternating hemiplegia of childhood 2, 614820 (3); CAPOS syndrome, 601338 (3) ATP1B2 17 7646627 7657768 Y . Y N -0.5962877 16.80268565 0.179758869 39.3 . . ATP2A1 16 28878405 28904509 Y Lethal Y N -1.597699336 2.841928576 7.04E-09 89.3 DM Brody myopathy, 601003 (3) ATP2A2 12 110280756 110351093 Y Lethal Y N -1.614891851 2.784048157 0.998230939 6.7 DM Darier disease, 124200 (3); Acrokeratosis verruciformis, 101900 (3) ATP2B1 12 89588049 89709300 Y Subviable Y N -1.394392098 3.953232621 0.999997542 2 . . ATP2C1 3 130850595 131016712 Y . Y N -0.994770199 7.935405452 0.999798835 4.3 DM Hailey-Hailey disease, 169600 (3) ATP5A1 18 46080248 46104334 Y . Y N -0.189053899 36.22156624 0.998862484 6.1 DM ?Mitochondrial complex (ATP synthase) deficiency, nuclear type 4, 615228 (3); ?Combined oxidative phosphorylation deficiency 22, 616045 (3) ATP5B 12 56638175 56646068 N Lethal Y N -0.050324612 45.75447126 0.99163507 9.6 . . ATP5E 20 59025467 59032382 N Lethal Y N 0.249648508 67.42490016 0.006056833 57.2 DM ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3, 614053 (3) ATP5G2 12 53632726 53677408 N Subviable Y N 0.149386991 60.95386931 0.000275239 68.9 . . ATP5L 11 118401154 118431496 N Lethal Y N -0.103955104 41.8649071 0.337891182 34.6 . . ATP6AP1 X 154428632 154436516 Y . Y N 0.100692319 57.27267465 0.827633657 20.7 . . ATP6V0A1 17 42458844 42522611 N Lethal Y N -0.882216924 9.914915784 0.997249735 7.4 DFP . ATP6V0A4 7 138706295 138799560 Y Lethal Y N -0.118354615 40.86357585 1.94E-12 95 DM Renal tubular acidosis, distal, autosomal recessive, 602722 (3) ATP6V0C 16 2513726 2520223 Y . Y N -0.172439875 37.20553337 0.729144944 23.8 . . ATP6V1B2 8 20197367 20226819 N Lethal Y N -0.465862421 21.6299126 0.991448563 9.6 . . ATP6V1D 14 67294371 67360265 N Lethal Y N -0.131096333 39.98379348 0.003151443 60.1 . . ATP7A X 77910656 78050395 Y . Y N 0.782173654 88.83486716 0.999634377 4.9 DM Menkes disease, 309400 (3); Occipital horn syndrome, 304150 (3); Spinal muscular atrophy, distal, X-linked 3, 300489 (3) ATP7B 13 51932673 52011494 Y . Y N 0.346670554 73.2187301 5.23E-20 98.7 DM Wilson disease, 277900 (3) ATP8A2 13 25372071 26025851 Y . Y N -1.443915445 3.710134861 0.4180779 32.3 DM ?Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4, 615268 (3) ATPAF2 17 17977409 18039209 Y . Y N 0.267672556 68.5362042 0.001430538 63.2 DM Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273 (3) ATR 3 142449235 142578826 Y Lethal Y N -2.101200763 1.464374602 0.701297833 24.6 DM . ATRIP 3 48446710 48465655 N Lethal Y N -0.504031735 20.02662499 0.00148698 63.1 DM . ATRX X 77504878 77786269 Y . Y N -0.84795316 10.60369277 0.999999982 0.9 DM Alpha-thalassemia/mental retardation syndrome, 301040 (3); Alpha-thalassemia myelodysplasia syndrome, somatic, 300448 (3); Mental retardation-hypotonic facies syndrome, X-linked, 309580 (3) ATXN10 22 45671798 45845307 N Lethal Y N -0.219065877 34.38675696 0.745162923 23.3 DM Spinocerebellar ataxia 10, 603516 (3) ATXN1L 16 71845991 71885268 Y . Y N . . . . . . ATXN2 12 111452214 111599676 Y . Y N -1.006763102 7.767552237 0.999862272 4 DM Spinocerebellar ataxia 2, 183090 (3); {Amyotrophic lateral sclerosis, susceptibility to, 13}, 183090 (3); {Parkinson disease, late-onset, susceptibility to}, 168600 (3) ATXN7L3 17 44191805 44200113 N Lethal Y N -0.377739799 25.58314522 0.95523889 14.3 . . AURKA 20 56369389 56392337 Y . Y N 0.046257695 53.10528448 0.435603931 31.8 DM? {Colon cancer, susceptibility to}, 114500 (3) AURKB 17 8204733 8210600 Y . Y N -0.040907923 46.57058517 0.005882339 57.3 DM? . AVIL 12 57797376 57818704 Y . Y N 0.632107979 85.10736818 1.03E-10 92.9 . . AVP 20 3082556 3084724 Y Lethal Y N . . 0.183145102 39.2 DM Diabetes insipidus, neurohypophyseal, 125700 (3) AVPR2 X 153902531 153907166 Y . Y N 1.240547965 95.38114256 0.11988562 42.1 DM Diabetes insipidus, nephrogenic, 304800 (3); Nephrogenic syndrome of inappropriate antidiuresis, 300539 (3) AXIN1 16 287440 352673 Y . Y N -0.10239182 41.96909186 0.247772064 37.2 DM Hepatocellular carcinoma, somatic, 114550 (3); ?Caudal duplication anomaly, 607864 (3) AXIN2 17 65528563 65561647 Y . Y N -0.10239182 41.96909186 0.119052193 42.2 DM Oligodontia-colorectal cancer syndrome, 608615 (3); Colorectal cancer, somatic, 114500 (3) AZIN1 8 102826357 102893864 Y . Y N -0.40679489 24.07246628 0.991669447 9.5 . . B3GALNT1 3 161083883 161105384 Y . Y N -0.27924293 30.68241014 0.248006524 37.2 DM . B3GNT5 3 183253244 183298504 Y . Y N 0.032208434 52.02870869 0.630704047 26.6 . . B4GALT1 9 33104082 33167356 Y . Y N -0.171329534 37.29814204 0.486324788 30.4 DM Congenital disorder of glycosylation, type IId, 607091 (3) B4GALT5 20 49632945 49713878 Y . Y N 0.098778904 57.07588123 0.991657871 9.6 . . B4GAT1 11 66345372 66347692 N . Y N . . . . . . B9D1 17 19337554 19378182 Y . Y N -0.015680094 48.2317532 0.119139656 42.2 DM ?Meckel syndrome 9, 614209 (3) B9D2 19 41354421 41364173 Y . Y N -0.000674037 49.38936158 0.000844599 65.4 DM Meckel syndrome 10, 614175 (3) BACE1 11 117285207 117316259 Y . Y N -0.352359149 26.65972102 0.944278809 15.3 DFP . BACH1 21 29194071 29630751 N Subviable Y N -0.437459904 22.87434161 0.0141864 53.4 . . BAG1 9 33247820 33264763 Y . Y N 0.435610474 77.68131041 . . . . BAG3 10 119651370 119677819 Y Lethal Y N 0.299900751 70.49835041 0.53203443 29.1 DM Myopathy, myofibrillar, 6, 612954 (3); Cardiomyopathy, dilated, 1HH, 613881 (3) BAG6 6 31639028 31652705 Y . Y N -1.889580036 1.915841871 0.999987886 2.6 DP . BAHCC1 17 81395475 81466332 Y . Y N . . . . . . BAIAP2 17 81035122 81117432 N Subviable Y N -0.961885913 8.519997685 0.464202489 31 . . BAP1 3 52401013 52410350 Y . Y N -0.638282461 15.72610986 0.385637504 33.1 DM Tumor predisposition syndrome, 614327 (3) BARD1 2 214725646 214809711 Y . Y N -0.681241615 14.46431672 1.18E-11 94.2 DM {Breast cancer, susceptibility to}, 114480 (3) BARHL2 1 90711539 90717237 Y . Y N 0.192642013 63.98680326 0.222344944 37.9 . . BARX1 9 93951622 93955372 Y . Y N . . 0.690516091 24.9 . . BARX2 11 129375940 129452279 N Subviable Y N 0.246119954 67.25704694 0.123464488 41.9 . . BASP1 5 17065598 17276843 Y . Y N 0.435463288 77.66394629 0.539222353 28.9 . . BAZ1B 7 73440398 73522278 Y . Y N -2.001214034 1.649591943 0.999999563 1.5 . . BBIP1 10 110898730 110919274 Y . Y N . . . . . ?Bardet-Biedl syndrome 18, 615995 (3) BBOX1 11 27040725 27127809 N Subviable Y N -0.267911686 31.37118713 1.50E-12 95.1 . . BBS1 11 66510606 66533627 Y . Y N 0.343961939 73.09139318 1.78E-07 85.3 DM Bardet-Biedl syndrome 1, 209900 (3) BBS10 12 76344474 76348442 N Lethal Y N -0.489981901 20.60542918 6.78E-09 89.3 DM Bardet-Biedl syndrome 10, 615987 (3) BBS4 15 72686179 72738476 Y Subviable Y N 0.271650036 68.78509 0.000141017 70.9 DM Bardet-Biedl syndrome 4, 615982 (3) BBS7 4 121824440 121870497 N Subviable Y N -0.608269539 16.50749551 0.001178746 64.1 DM Bardet-Biedl syndrome 7, 615984 (3) BCAR1 16 75228187 75268053 Y . Y N 0.460651194 78.84470684 0.992956578 9.2 . . BCAT2 19 48795062 48811029 Y . Y N 0.203015042 64.55981941 1.71E-11 94 . ?Hypervalinemia or hyperleucine-isoleucinemia (1) BCKDK 16 31106107 31112791 Y . Y N -0.629017485 15.89975111 0.005804358 57.4 DM Branched-chain ketoacid dehydrogenase kinase deficiency, 614923 (3) BCL10 1 85266248 85277090 Y . Y N 0.375437469 74.69468079 0.118213219 42.2 DP Lymphoma, MALT, somatic, 137245 (3); {Lymphoma, follicular, somatic}, 613024 (3); {Male germ cell tumor, somatic}, 273300, (3); {Sezary syndrome, somatic}, (3); {Mesothelioma, somatic}, 156240 (3); ?Immunodeficiency 37, 616098 (3) BCL11A 2 60451167 60553567 Y . Y N -1.55389815 3.050298084 0.828999685 20.7 DM? . BCL11B 14 99169287 99271524 Y . Y N -0.738695505 12.9420617 0.929785242 16.2 . . BCL2 18 63123346 63320128 Y . Y N -0.092624171 42.6520808 0.337855764 34.6 DFP Leukemia/lymphoma, B-cell, 2 (3) BCL2L1 20 31664452 31723989 Y . Y N -0.464103204 21.6993691 0.823684828 20.8 . . BCL2L11 2 111119378 111168447 Y . Y N -0.281157211 30.57243734 0.950822922 14.7 FP . BCL6 3 187721377 187745727 Y . Y N 0.304532815 70.76460034 0.982525139 11.4 . Lymphoma, B-cell (2) BCLAF1 6 136256863 136289851 Y Lethal Y N 2.975659916 99.52538056 . . DM? . BCOR X 40049815 40177329 Y . Y N -1.089992687 6.667824275 0.999945621 3.3 DM Microphthalmia, syndromic 2, 300166 (3) BDKRB2 14 96204679 96244166 Y . Y N 0.188965718 63.72634138 0.269901203 36.5 DFP . BDNF 11 27654893 27722058 Y . Y N -0.151691433 38.58887538 0.946719308 15.1 DM {Memory impairment, susceptibility to} (3); Central hypoventilation syndrome, congenital, 209880 (3); {Obsessive-compulsive disorder, protection against}, 164230 (3); {Bulimia nervosa, age of onset of weight loss in}, 607499 (3); {Anorexia nervosa, susceptibility to}, 610269 (3) BECN1 17 42810134 42833350 Y . Y N -0.399291813 24.48341726 0.998697776 6.3 . . BECN2 1 241957767 241959062 N . Y N . . . . . . BICC1 10 58513140 58831437 Y . Y N -0.14277709 39.19661978 0.571303026 28.2 DM {Renal dysplasia, cystic, susceptibility to}, 601331 (3) BIN1 2 127048027 127107355 Y . Y N -0.099018085 42.16588528 0.474193122 30.7 DM Myopathy, centronuclear, autosomal recessive, 255200 (3) BIRC5 17 78214186 78225636 Y . Y N 0.559340178 82.74584708 0.215847837 38.2 DFP . BIRC6 2 32357028 32618899 Y . Y N -6.259008971 0.046304335 1 0.1 . . BLM 15 90717327 90816165 Y . Y N -0.224058954 34.05683857 4.14E-11 93.5 DM Bloom syndrome, 210900 (3) BLMH 17 30248195 30292056 Y . Y N -0.403923475 24.17665104 0.00956069 55.1 DP {Alzheimer disease, susceptibility to}, 104300 (3) BLOC1S2 10 100273280 100286712 N Lethal Y N -0.027967398 47.43300341 0.05602493 46.4 . . BMI1 10 22321211 22331484 Y . Y N -0.434090717 23.00746657 0.515144747 29.6 FP . BMP1 8 22164736 22212326 Y . Y N -2.269542522 1.192336633 0.868760693 19.1 DM Osteogenesis imperfecta, type XIII, 614856 (3) BMP10 2 68865481 68871517 Y Lethal Y N 0.042581773 52.76957805 0.72271622 24 DFP . BMP2 20 6767664 6780280 Y . Y N -0.313886865 28.62186722 0.938086416 15.7 DM {HFE hemochromatosis, modifier of}, 235200 (3); Brachydactyly, type A2, 112600 (3) BMP4 14 53949736 53958761 Y . Y N 0.073550514 55.19476761 0.967466005 13.3 DM Microphthalmia, syndromic 6, 607932 (3); Orofacial cleft 11, 600625 (3) BMP5 6 55753645 55875564 Y . Y N -0.144035975 39.12137524 0.000107433 71.7 DM? . BMP7 20 57168748 57266629 Y . Y N -0.192881585 36.00162065 0.981286768 11.5 DM . BMP8B 1 39757182 39788861 Y . Y N 1.26210431 95.50847948 0.774529936 22.5 . . BMPER 7 33904911 34155872 Y . Y N -0.025598971 47.54297621 0.001070855 64.5 DM Diaphanospondylodysostosis, 608022 (3) BMPR1A 10 86756650 86932838 Y . Y N -0.546482508 18.33072871 0.768624359 22.6 DM Polyposis, juvenile intestinal, 174900 (3); Polyposis syndrome, hereditary mixed, 2, 610069 (3); Juvenile polyposis syndrome, infantile form, 174900 (3) BMPR2 2 202376936 202567751 Y . Y N -0.87265272 10.12907333 0.996668086 7.7 DM Pulmonary hypertension, familial primary, 1, with or without HHT, 178600 (3); Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated, 178600 (3); Pulmonary venoocclusive disease 1, 265450 (3) BMS1 10 42782801 42834937 N Lethal Y N 0.870795746 90.60600799 0.995287036 8.3 DM ?Aplasia cutis congenita, nonsyndromic, 107600 (3) BNC2 9 16409503 16870843 Y . Y N -0.905254165 9.480812641 0.999465645 5.2 DM . BPTF 17 67825524 67984378 Y . Y N -3.95011965 0.214157551 1 0.3 . . BRAF 7 140719327 140924764 Y . Y N -1.039945046 7.385541471 0.999978196 2.9 DM Melanoma, malignant, somatic (3); Colorectal cancer, somatic (3); Adenocarcinoma of lung, somatic, 211980 (3); Nonsmall cell lung cancer, somatic (3); Cardiofaciocutaneous syndrome, 115150 (3); Noonan syndrome 7, 613706 (3); LEOPARD syndrome 3, 613707 (3) BRAP 12 111642146 111685986 Y . Y N -0.330654223 27.71314464 0.015703311 52.9 DFP . BRCA1 17 43044295 43125483 Y . Y N -0.474265253 21.24211379 3.29E-20 98.7 DM {Breast-ovarian cancer, familial, 1}, 604370 (3); {Pancreatic cancer, susceptibility to, 4}, 614320 (3) BRCA2 13 32315474 32400266 Y . Y N 0.038331346 52.40493141 2.21E-15 97.1 DM {Breast-ovarian cancer, familial, 2}, 612555 (3); Fanconi anemia, complementation group D1, 605724 (3); Prostate cancer, 176807 (3); {Breast cancer, male, susceptibility to}, 114480 (3); Wilms tumor, 194070 (3); {Medulloblastoma}, 155255 (3); {Glioblastoma 3}, 613029 (3); {Pre-B-cell acute lymphoblastic leukemia} (3); Pancreatic cancer, 613347 (3) BRD1 22 49773283 49827512 Y . Y N -1.784379093 2.234184175 0.994534773 8.6 DM? . BRD2 6 32968660 32981505 Y . Y N -1.56494574 2.969265497 0.99953088 5.1 . . BRD4 19 15235519 15332545 Y . Y N -1.83977791 2.083695086 0.999993446 2.3 . . BRD7 16 50313487 50368934 Y . Y N -0.173896395 37.15344099 0.944865043 15.2 . . BRD8 5 138139766 138178986 Y . Y N -0.355585906 26.54974822 0.000590819 66.5 . . BRK1 3 10115592 10127190 Y . Y N 0.060156283 54.10082769 0.604508694 27.3 . . BRMS1 11 66337333 66345125 N Subviable Y N 0.177635945 63.02598831 0.001076525 64.4 . . BRPF3 6 36196744 36232790 Y . Y N -1.659647986 2.616194941 0.993940981 8.9 . . BSCL2 11 62690275 62709845 Y . Y N -0.128073148 40.20373908 0.008525411 55.6 DM Lipodystrophy, congenital generalized, type 2, 269700 (3); Silver spastic paraplegia syndrome, 270685 (3); Neuropathy, distal hereditary motor, type VA, 600794 (3); Encephalopathy, progressive, with or without lipodystrophy, 615924 (3) BSG 19 571277 583493 Y . Y N -0.542654523 18.49279389 0.057304363 46.3 DFP [Blood group, OK], 111380 (3) BSND 1 54998933 55010883 Y . Y N 0.666445828 86.11448747 4.41E-07 83.9 DM Bartter syndrome, type 4a, 602522 (3); Sensorineural deafness with mild renal dysfunction, 602522 (3) BTF3 5 73498408 73505635 Y . Y N 0.032057299 51.99976848 0.90437154 17.6 . . BUB1 2 110637698 110678114 Y . Y N -1.132418763 6.233721132 4.50E-06 79.8 DM? Colorectal cancer with chromosomal instability, somatic (3) BUB1B 15 40161023 40221136 Y . Y N -0.230900918 33.67482781 0.002631623 60.9 DM Colorectal cancer, somatic, 114500 (3); Mosaic variegated aneuploidy syndrome 1, 257300 (3); [Premature chromatid separation trait], 176430 (3) BUB3 10 123154277 123170467 Y . Y N -0.454685281 22.09295595 0.554686127 28.5 . . BYSL 6 41921188 41933046 Y . Y N 0.569860199 83.0526133 0.067321442 45.3 . . C10orf2 10 100987367 100994401 Y . Y N -0.932828117 8.977252995 0.99031303 9.9 DM . C10orf76 10 101845599 102056193 Y . Y N -0.702135894 13.85657232 0.055339807 46.4 . . C11orf73 11 86302211 86345931 Y . Y N -0.004501323 49.10574753 0.76998821 22.6 . . C16orf89 16 5044122 5066110 N Subviable Y N 0.171240551 62.60924929 2.04E-14 96.5 . . C19orf67 19 14081619 14085875 Y . Y N . . . . . . C1GALT1 7 7156934 7248651 Y . Y N -0.626300493 15.98657174 0.679379972 25.2 DP . C1GALT1C1 X 120625793 120630150 Y . Y N 0.543377487 82.18440702 0.688732364 24.9 . Tn polyagglutination syndrome, somatic, 300622 (3) C1orf112 1 169662007 169854080 N Lethal Y N -0.715079795 13.53244197 5.98E-08 86.8 . . C1QBP 17 5432777 5448830 Y . Y N 0.103411903 57.457892 0.072050239 44.9 . . C20orf144 20 33662284 33665619 N . Y N . . 0.003093573 60.2 . . C2CD3 11 74012714 74171210 Y . Y N 0.552323022 82.52011345 8.08E-10 91.3 DM? ?Orofaciodigital syndrome XIV, 615948 (3) C2orf80 2 208165343 208190073 N Subviable Y N 0.636285654 85.24628118 7.49E-05 72.8 . . C3orf17 3 113002440 113019861 N . Y N 0.080247996 55.73305551 9.42E-05 72.1 . . C5orf30 5 103258702 103278660 N Subviable Y N -0.03259986 47.11466111 0.778880852 22.3 . . C7orf55 7 139339457 139346319 N Subviable Y N 0.177486232 63.00862418 0.017009684 52.5 . . C9orf114 9 128819651f 128829821 Y . Y N -0.109391694 41.51183655 0.104849794 42.8 . . CA4 17 60149936 60170899 Y Subviable Y N 0.278045399 69.20761706 0.01080885 54.6 DM Retinitis pigmentosa 17, 600852 (3) CABIN1 22 24011192 24178628 Y . Y N -1.152336074 6.060079875 8.54E-08 86.3 DM . CACNA1A 19 13206442 13623990 Y . Y N -2.211190877 1.261793135 1 0.5 DM Migraine, familial hemiplegic, 1, 141500 (3); Episodic ataxia, type 2, 108500 (3); Spinocerebellar ataxia 6, 183086 (3); Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, 141500 (3) CACNA1C 12 1970786 2697950 Y . Y N -1.688389544 2.483069977 0.999998433 1.9 DM Timothy syndrome, 601005 (3); Brugada syndrome 3, 611875 (3) CACNA1S 1 201039512 201112566 Y Lethal Y N -0.264690219 31.59692076 9.56E-08 86.2 DM Hypokalemic periodic paralysis, type 1, 170400 (3); {Malignant hyperthermia susceptibility 5}, 601887 (3); {Thyrotoxic periodic paralysis, susceptibility to, 1}, 188580 (3) CACNA2D2 3 50362799 50504244 Y . Y N -1.097765002 6.598367772 0.999693297 4.7 DM . CACNB1 17 39173456 39197703 Y . Y N -0.624232756 16.02708804 0.993959622 8.9 . . CACNB2 10 18140677 18541869 Y . Y N 0.255839634 67.81269896 0.001820338 62.3 DM Brugada syndrome 4, 611876 (3) CADPS 3 62398346 62875389 Y . Y N -1.855742597 2.025814667 0.052816468 46.7 . . CALCR 7 93424487 93574730 Y . Y N -0.391635495 24.88858019 3.38E-05 74.9 DP {Osteoporosis, postmenopausal, susceptibility}, 166710 (3) CALCRL 2 187343129 187448460 Y . Y N -0.006263422 49.00156277 0.926324874 16.3 . . CALD1 7 134744252 134970728 Y . Y N 0.333588005 72.49522487 0.999097704 5.8 . . CALR 19 12938578 12944489 Y . Y N -0.167501818 37.55860392 0.938728555 15.7 DM Myelofibrosis, somatic, 254450 (3); Thrombocythemia, somatic, 187950 (3) CAMLG 5 134738501 134752160 Y . Y N -0.391788739 24.87121607 0.00402054 59.1 . . CANT1 17 78991717 79009867 N Subviable Y N 0.199338946 64.3514499 0.002909236 60.5 DM Desbuquois dysplasia, 251450 (3) CANX 5 179678628 179730925 Y . Y N -0.60555081 16.60010418 0.86247386 19.4 . . CAP2 6 17393216 17557792 N Subviable Y N -0.590544433 17.03999537 0.410487088 32.5 . . CAPN2 1 223701593 223776018 Y . Y N 0.324323993 71.99166522 1.62E-11 94.1 . . CAPN5 11 77066932 77126155 Y . Y N 0.577670338 83.35937952 3.54E-07 84.3 DM Vitreoretinopathy, neovascular inflammatory, 193235 (3) CAPN7 3 15206152 15252918 Y . Y N -1.452514503 3.640678359 5.29E-07 83.6 . . CAPNS1 19 36139575 36150353 Y . Y N -0.167654501 37.52966371 0.00012438 71.2 . . CAPRIN1 11 34051683 34101156 Y . Y N -1.230257993 5.313422469 0.999767662 4.4 DM? . CAPZB 1 19338776 19485539 Y . Y N -0.132053341 39.94906523 0.592160351 27.7 . . CARD10 22 37490362 37519542 Y . Y N -0.932681655 8.983041037 0.108919869 42.7 DP . CARM1 19 10871513 10923070 Y Lethal Y N -0.918930637 9.231926839 0.999357708 5.4 . . CASC3 17 40140318 40172183 N Lethal Y N -0.926281221 9.127742085 0.913674729 17.1 . . CASC5 15 40594020 40664342 Y . Y N 1.56122602 97.27383226 0.023716719 50.8 DM Microcephaly 4, primary, autosomal recessive, 604321 (3) CASK X 41514934 41923463 Y . Y N -0.669405164 14.77687098 0.999885705 3.9 DM Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749 (3); FG syndrome 4, 300422 (3); Mental retardation, with or without nystagmus, 300422 (3) CASKIN1 16 2177180 2196525 N Subviable Y N -0.986978148 8.0801065 0.999956295 3.2 . . CASP3 4 184627696 184649509 Y . Y N 0.074356355 55.24107195 0.184808405 39.1 DM? . CASP8 2 201233443 201287711 Y . Y N -0.491089499 20.55333681 0.004845024 58.3 DM ?Autoimmune lymphoproliferative syndrome, type IIB, 607271 (3); Hepatocellular carcinoma, somatic, 114550 (3); {Breast cancer, protection against}, 114480 (3); {Lung cancer, protection against}, 211980 (3) CASP8AP2 6 89829894 89874436 Y . Y N . . . . . . CASP9 1 15490832 15526534 Y . Y N 0.112022239 58.14666898 0.003193956 60.1 DFP . CASQ2 1 115700007 115768781 N Lethal Y N -0.477040255 21.14950512 1.07E-06 82.5 DM Ventricular tachycardia, catecholaminergic polymorphic, 2, 611938 (3) CASR 3 122183683 122286503 Y . Y N -1.429861251 3.779591364 0.366508674 33.7 DM Hypocalciuric hypercalcemia, type I, 145980 (3); Hyperparathyroidism, neonatal, 239200 (3); Hypocalcemia, autosomal dominant, 601198 (3); Hypocalcemia, autosomal dominant, with Bartter syndrome, 601198 (3); {Epilepsy idiopathic generalized, susceptibility to, 8}, 612899 (3); Hypercalciuric hypercalcemia (3); {Calcium, serum level of} (3) CASZ1 1 10636604 10796650 N Lethal Y N -0.712493261 13.59611044 0.999938476 3.4 . . CBFA2T2 20 33490075 33650036 Y . Y N -0.876627282 10.0133125 0.999355101 5.4 DM? . CBFB 16 67029116 67101058 Y . Y N -0.094538075 42.4726515 0.905733874 17.6 DM Myeloid leukemia, acute, M4/M4Eo subtype, somatic, 601626 (1) CBL 11 119206042 119308149 Y . Y N -0.822040307 11.13619263 0.006787357 56.7 DM Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, 613563 (3) CBS 21 43053191 43076943 Y . Y N -0.19831891 35.60224576 0.006772054 56.7 DM Homocystinuria, B6-responsive and nonresponsive types, 236200 (3); Thrombosis, hyperhomocysteinemic, 236200 (3) CBX1 17 48070052 48101521 Y . Y N -0.037384251 46.76159055 0.949842678 14.8 . . CBX2 17 79778132 79787983 Y Lethal Y N -0.931725788 9.017769289 0.954823918 14.3 DM? 46XY sex reversal 5, 613080 (3) CBX3 7 26201162 26213356 Y . Y N 0.018964694 50.97528506 0.633200403 26.5 . . CBX4 17 79833156 79839429 Y Lethal Y N 0.016397017 50.77270359 0.381198482 33.3 DM? . CBX5 12 54230940 54280133 Y . Y N 0.008591214 50.15917115 0.835000939 20.5 . . CBY1 22 38656636 38673854 Y . Y N 0.503948861 80.59848353 0.027430181 50.1 . . CC2D1A 19 13906201 13930879 Y . Y N 1.277745115 95.61845228 2.26E-05 75.9 DM Mental retardation, autosomal recessive 3, 608443 (3) CC2D2A 4 15469865 15601557 Y . Y N 1.20750538 95.08016438 5.49E-15 96.8 DM Joubert syndrome 9, 612285 (3); Meckel syndrome 6, 612284 (3); COACH syndrome, 216360 (3) CCBE1 18 59430940 59697380 Y . Y N 0.001391072 49.59773109 1.67E-06 81.7 DM Hennekam lymphangiectasia-lymphedema syndrome 1, 235510 (3) CCDC134 22 41800679 41826299 Y . Y N -0.32617555 27.96781849 0.000741173 65.8 . . CCDC137 17 81666364 81673904 Y . Y N 0.872717176 90.64652428 0.000101486 71.8 . . CCDC174 3 14651746 14672659 Y . Y N -0.186183329 36.3952075 2.95E-05 75.2 . . CCDC40 17 80036632 80100613 Y . Y N 1.198260813 94.99334375 6.32E-11 93.2 DM Ciliary dyskinesia, primary, 15, 613808 (3) CCDC47 17 63745250 63776351 Y . Y N -0.39546335 24.64548243 0.002588177 61 . . CCDC86 11 60842071 60851081 Y . Y N 0.060458083 54.14713203 0.001477357 63.1 . . CCDC94 19 4247079 4269090 N Lethal Y N -0.392745948 24.81333565 0.000960471 64.9 . . CCM2 7 44999475 45076469 Y . Y N -0.581127276 17.36412572 0.483088351 30.5 DM Cerebral cavernous malformations-2, 603284 (3) CCNA2 4 121816444 121823933 Y . Y N -0.143231429 39.15031545 0.99468305 8.5 DFP . CCNB1 5 69167010 69178245 Y Lethal Y N -0.031491274 47.21884586 0.023969445 50.7 . . CCNB2 15 59105078 59125045 Y . Y N 0.332480077 72.44313249 1.59E-06 81.8 . . CCND1 11 69641087 69654474 Y . Y N -0.734218553 13.03467037 0.238186362 37.4 DFP {Colorectal cancer, susceptibility to}, 114500 (3); {von Hippel-Lindau syndrome, modifier of}, 193300 (3); {Multiple myeloma, susceptibility to}, 254500 (3) CCNF 16 2429394 2458854 Y . Y N -0.57891777 17.38727788 0.024351928 50.6 . . CCNK 14 99481169 99535044 Y . Y N -0.395617806 24.63390635 0.997144332 7.5 . . CCNT2 2 134918235 134959342 Y . Y N -0.798722345 11.62238815 0.498104082 30 . . CCR10 17 42678889 42683917 Y . Y N 0.034927599 52.21971407 0.006206053 57.1 . . CCT3 1 156308968 156367873 Y . Y N -0.572667189 17.57828327 0.998745413 6.2 . . CD247 1 167430640 167518610 Y . Y N 0.035884366 52.28917057 0.661382967 25.7 DM ?Immunodeficiency 25, 610163 (3) CD274 9 5450503 5470566 Y . Y N -0.174200506 37.13028882 0.004681603 58.4 DFP . CDAN1 15 42723559 42737126 Y . Y N 0.597626296 84.02500434 0.928144193 16.2 DM Dyserythropoietic anemia, congenital, type Ia, 224120 (3) CDC123 10 12195965 12250589 N Lethal Y N -0.209801572 34.94819702 0.23962803 37.4 . . CDC20 1 43358955 43363203 Y Lethal Y N -0.788500635 11.77866528 0.000181854 70.1 . . CDC25A 3 48157146 48188402 Y . Y N -0.27637172 30.86762748 0.979698045 11.8 . . CDC26 9 113255835 113275589 N Lethal Y N 0.25810805 67.9284598 0.646600814 26.1 . . CDC34 19 531712 542092 N Subviable Y N -0.356187814 26.51501997 0.560462977 28.4 . . CDC42 1 22052627 22092946 Y . Y N -0.11145818 41.38449962 0.656574472 25.9 . . CDC45 22 19479459 19520612 Y . Y N -0.623275987 16.07339237 0.069104359 45.1 . . CDC6 17 40287633 40304657 Y . Y N -0.794089755 11.68026857 1.81E-06 81.5 DM Meier-Gorlin syndrome 5, 613805 (3) CDC7 1 91500893 91525764 Y . Y N -0.135576128 39.70596747 0.352414094 34.1 . . CDC73 1 193122017 193253901 Y . Y N -0.764231802 12.32274122 0.999958508 3.2 DM . CDCA5 11 65066300 65084164 N Lethal Y N 0.476804223 79.61451641 0.070716081 45 . . CDCA8 1 37692418 37709719 Y . Y N 0.098778904 57.07588123 0.097153232 43.4 . . CDH1 16 68737225 68835548 Y . Y N -0.787245867 11.80760549 0.338547688 34.6 DM Endometrial carcinoma, somatic, 608089 (3); Ovarian carcinoma, somatic, 167000 (3); {Breast cancer, lobular}, 114480 (3); Gastric cancer, familial diffuse, with or without cleft lip and/or palate, 137215 (3); {Prostate cancer, susceptibility to}, 176807 (3) CDH2 18 27950966 28177446 Y . Y N -1.266676339 4.971927997 0.897440931 17.9 DM? . CDH5 16 66366622 66404786 Y . Y N -0.274963289 30.97181224 0.146020818 40.8 DM? . CDIPT 16 29858357 29863736 N Lethal Y N 0.132467594 59.58789142 0.193882539 38.9 . . CDK1 10 60778331 60794852 Y . Y N 0.018007904 50.90004052 0.970572339 12.9 . . CDK11B 1 1635227 1722818 Y . Y N . . 0.72829444 23.8 . . CDK2 12 55966769 55972784 Y . Y N -0.139556392 39.44550559 0.958299189 14.1 . . CDK2AP1 12 123260971 123272334 Y . Y N 0.11459153 58.34925045 0.742361028 23.4 . . CDK4 12 57747727 57756013 Y Subviable Y N -0.356187814 26.51501997 0.932016916 16 DM {Melanoma, cutaneous malignant, 3}, 609048 (3) CDK5 7 151053812 151058530 Y . Y N -0.299035003 29.50743763 0.947516189 15 . ?Lissencephaly 7 with cerebellar hypoplasia, 616342 (3) CDK5RAP2 9 120388869 120580170 Y . Y N -0.457213975 21.97719511 5.71E-16 97.4 DM Microcephaly 3, primary, autosomal recessive, 604804 (3) CDK7 5 69234795 69277430 Y . Y N -0.32617555 27.96781849 0.001618525 62.8 FTV . CDK8 13 26254104 26405238 Y Lethal Y N -0.494115743 20.42599988 0.946653349 15.1 . . CDK9 9 127785679 127790787 N Lethal Y N -0.97432786 8.311628176 0.000275106 68.9 . . CDKN1C 11 2883213 2885881 Y . Y N . . 0.52282169 29.4 DM Beckwith-Wiedemann syndrome, 130650 (3); IMAGE syndrome, 614732 (3) CDO1 5 115804733 115816954 Y . Y N -0.010090723 48.66585634 0.0200728 51.7 . . CDON 11 125955796 126063335 Y . Y N -0.706200593 13.74081148 3.05E-12 94.8 DM Holoprosencephaly 11, 614226 (3) CDS2 20 5126786 5197887 Y . Y N -0.239813643 33.09023557 6.78E-05 73 . . CDSN 6 31115090 31120446 Y . Y N 0.984460682 92.58551832 0.499451801 30 DM Hypotrichosis 2, 146520 (3); Peeling skin syndrome 1, 270300 (3) CDX2 13 27962137 27971139 Y . Y N 0.096865517 56.89645193 0.553145867 28.6 DM? . CEBPA 19 33299934 33302564 Y . Y N . . . . DM ?Leukemia, acute myeloid, 601626 (3); Leukemia, acute myeloid, somatic, 601626 (3) CEBPB 20 50190734 50192689 Y . Y N . . 0.184473672 39.1 . . CEBPG 19 33373330 33382686 Y . Y N -0.011047557 48.60797592 0.069375546 45.1 . . CECR2 22 17359949 17558149 Y . Y N . . . . . . CELF1 11 47465944 47565569 Y . Y N -0.689198868 14.227007 0.998616885 6.4 . . CELF4 18 37243047 37566037 Y . Y N -0.95836316 8.589454188 0.97436473 12.5 DM . CELSR1 22 46360834 46537170 Y . Y N -2.216700169 1.256005093 0.999990747 2.5 DM . CELSR3 3 48636469 48662915 Y . Y N -1.541538135 3.131330671 0.999656221 4.8 . . CENPA 2 26764289 26801067 Y . Y N 0.288120873 69.75748104 0.139975206 41.1 . . CENPC 4 67468748 67545606 Y . Y N 0.810116522 89.33842681 0.067117386 45.3 . . CENPE 4 103105806 103198409 Y Lethal Y N -0.750732852 12.5832031 0.645840644 26.2 DM? ?Microcephaly 13, primary, autosomal recessive, 616051 (3) CENPH 5 69189548 69210357 N Lethal Y N 0.38485322 75.1519361 7.53E-05 72.8 . . CENPJ 13 24882284 24922889 Y . Y N 0.898891041 91.0632633 3.03E-21 98.9 DM Microcephaly 6, primary, autosomal recessive, 608393 (3); Seckel syndrome 4, 613676 (3) CENPO 2 24793136 24822376 N Lethal Y N 0.284591847 69.63014412 6.63E-06 79 . . CENPU 4 184694618 184734133 Y . Y N 0.385958262 75.20402848 . . . . CEP164 11 117314557 117413268 N Lethal Y N 0.740528698 87.85090004 9.67E-18 98.1 DM Nephronophthisis 15, 614845 (3) CEP41 7 130393771 130442433 Y . Y N 0.430020338 77.42084853 0.000125629 71.2 DM Joubert syndrome 15, 614464 (3) CERS3 15 100400395 100544995 Y . Y N 0.279002038 69.25970944 0.000441005 67.4 DM Ichthyosis, congenital, autosomal recessive 9, 615023 (3) CFC1 2 130592168 130599575 Y . Y N . . 0.682601111 25.1 DM Heterotaxy, visceral, 2, autosomal, 605376 (3); Double-outlet right ventricle, 217095 (3); Transposition of the great arteries, dextro-looped 2, 613853 (3) CFL1 11 65823022 65862026 Y . Y N -0.133967403 39.81015223 0.731049775 23.7 . . CFL2 14 34706769 34714823 Y . Y N 0.001088113 49.55142675 0.164507783 40 DM Nemaline myopathy 7, autosomal recessive, 610687 (3) CFLAR 2 201116104 201176687 Y . Y N -0.141317516 39.35289691 0.99971987 4.6 DFP . CFTR 7 117465784 117715971 Y . Y N 1.214613489 95.19013718 2.96E-36 99.9 DM Cystic fibrosis, 219700 (3); Congenital bilateral absence of vas deferens, 277180 (3); Sweat chloride elevation without CF (3); {Pancreatitis, idiopathic}, 167800 (3); {Hypertrypsinemia, neonatal} (3); {Bronchiectasis with or without elevated sweat chloride 1, modifier of}, 211400 (3) CGN 1 151510510 151538692 N Lethal Y N 2.479156778 99.17231001 1.82E-22 99.1 . . CHAF1A 19 4402662 4445018 Y . Y N -0.70552035 13.78711582 0.996226226 7.9 . . CHAT 10 49609095 49665104 Y . Y N 1.627400323 97.60953869 0.014030306 53.5 DM Myasthenic syndrome, congenital, 6, presynaptic, 254210 (3) CHCHD3 7 132784868 133082088 Y . Y N 0.195362073 64.12571627 0.040401631 48.3 . . CHD1 5 98853985 98928957 N Lethal Y N -1.886718878 1.933205996 0.999999999 0.6 DM? . CHD4 12 6570083 6607476 N Lethal Y N -2.781983253 0.723505238 0.999999998 0.6 . . CHD7 8 60678778 60868028 Y . Y N -2.700052587 0.804537825 1 0.2 DM CHARGE syndrome, 214800 (3); Hypogonadotropic hypogonadism 5 with or without anosmia, 612370 (3) CHD8 14 21385194 21456126 Y . Y N -2.101434496 1.45858656 1 0.3 DM? {Autism, susceptibility to, 18}, 615032 (3) CHEK1 11 125625136 125676255 Y . Y N -0.752898517 12.51953464 0.00024911 69.1 . . CHGA 14 92923080 92935293 Y . Y N 0.603550251 84.24494993 0.000145486 70.7 DFP . CHIC2 4 54009789 54064690 N Subviable Y N -0.073942787 44.13960757 0.344123666 34.4 . {Leukemia, acute myeloid}, 601626 (3) CHKA 11 68052859 68121444 Y . Y N -0.292334822 29.87208427 0.787088147 22.1 . . CHM X 85861180 86047562 Y . Y N -0.123440781 40.55680963 0.997851014 7 DM Choroideremia, 303100 (3) CHMP3 2 86503430 86620493 N Lethal Y N -0.275568538 30.94287203 0.036245866 48.8 . . CHMP4B 20 33811304 33854366 Y . Y N -0.269979946 31.27279042 0.881585919 18.5 DM Cataract 31, multiple types, 605387 (3) CHMP5 9 33264879 33282069 Y . Y N -0.305580815 29.14857904 0.259054927 36.8 . . CHMP6 17 80991598 81009517 N Lethal Y N -0.253059342 32.25675754 0.765888301 22.7 . . CHORDC1 11 90201160 90223364 Y . Y N -0.067244365 44.5852868 0.531116383 29.1 . . CHRD 3 184380073 184390736 Y . Y N 0.299097632 70.44046999 0.000381247 67.9 . . CHRNA1 2 174747592 174764472 Y Lethal Y N -0.482629449 20.86589107 8.80E-06 78.4 DM Myasthenic syndrome, congenital, 1A, slow-channel, 601462 (3); Myasthenic syndrome, congenital, 1B, fast-channel, 608930 (3); Multiple pterygium syndrome, lethal type, 253290 (3) CHRNA3 15 78593052 78621295 Y . Y N -0.358752744 26.36453088 0.007061638 56.5 DFP {Lung cancer susceptibility 2}, 612052 (3) CHRNA4 20 63343223 63378401 Y . Y N -1.413080532 3.860623951 0.020867888 51.4 DM Epilepsy, nocturnal frontal lobe, 1, 600513 (3); {Nicotine addiction, susceptibility to}, 188890 (3) CHRNB2 1 154567781 154580026 N Subviable Y N -0.630931792 15.85344678 0.720254345 24.1 DM Epilepsy, nocturnal frontal lobe, 3, 605375 (3) CHRNG 2 232539727 232546403 Y . Y N 0.137552991 60.01620652 1.13E-09 91.1 DM Escobar syndrome, 265000 (3); Multiple pterygium syndrome, lethal type, 253290 (3) CHST11 12 104455295 104762014 Y . Y N -0.293291902 29.80841581 0.398388041 32.8 . . CHST14 15 40470998 40474571 Y . Y N -0.439679063 22.75279273 0.594619351 27.6 DM Ehlers-Danlos syndrome, musculocontractural type 1, 601776 (3) CHST6 16 75472052 75495384 N Subviable Y N -0.972259363 8.35214447 0.000606607 66.4 DM Macular corneal dystrophy, 217800 (3) CHTF18 16 788046 800737 Y Subviable Y N 2.835126999 99.40383168 . . . . CHTOP 1 153633982 153646306 Y Lethal Y N 0.121288029 58.8122938 0.998109469 6.8 . . CHUK 10 100188298 100229619 Y . Y N -0.552071566 18.15129942 0.998703705 6.3 DM Cocoon syndrome, 613630 (3) CIAPIN1 16 57428169 57447528 Y . Y N 0.145710487 60.67604329 0.296605892 35.8 . . CIC 19 42268537 42295797 Y . Y N -3.420291042 0.410950975 0.999902947 3.7 DM . CINP 14 102341102 102362916 N Lethal Y N 0.226330975 66.02998206 0.002769249 60.7 . . CIR1 2 174348022 174395715 Y . Y N -0.216347583 34.5025178 0.012119052 54.1 . . CIT 12 119685790 119877291 Y . Y N -2.871910053 0.654048735 0.999998739 1.8 . . CITED1 X 72301638 72307187 Y . Y N 0.267523946 68.51884008 0.045403393 47.5 . . CITED2 6 139371807 139374620 Y . Y N -0.525887379 19.15841871 0.706861724 24.4 DM Ventricular septal defect 2, 614431 (3); Atrial septal defect 8, 614433 (3) CKAP4 12 106237877 106304279 N Subviable Y N -0.521102007 19.43624472 0.891862494 18.1 . . CKAP5 11 46743048 46846308 Y . Y N -2.400780111 1.053423627 0.999999998 0.7 . . CLCF1 11 67364168 67374177 Y Lethal Y N 0.082816117 55.93563697 0.860488104 19.5 DM Cold-induced sweating syndrome 2, 610313 (3) CLCN3 4 169612633 169723673 Y . Y N -0.830649701 10.97412745 0.993264929 9.1 . . CLCN7 16 1444934 1475580 Y . Y N -1.39343574 3.964808705 0.981282976 11.6 DM Osteopetrosis, autosomal recessive 4, 611490 (3); Osteopetrosis, autosomal dominant 2, 166600 (3) CLDN1 3 190305701 190322475 Y Lethal Y N 0.051847216 53.50465937 0.058134931 46.2 DM Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis, 607626 (3) CLDN5 22 19523024 19527545 Y . Y N 0.284443026 69.58383979 0.740519619 23.4 . . CLDN7 17 7259903 7263983 Y . Y N 0.499313945 80.41326619 0.041384735 48.1 . . CLEC16A 16 10944488 11182189 Y . Y N -0.023383058 47.71661747 0.010138957 54.9 . . CLEC1B 12 9985642 10013424 Y . Y N 0.297684879 70.38258957 0.000104171 71.7 . . CLIP3 19 36014660 36033343 Y . Y N -0.683454413 14.42958847 0.998567721 6.4 . . CLNS1A 11 77514936 77637805 Y . Y N 0.094952155 56.76911501 0.095029616 43.5 . . CLP1 11 57648992 57661868 Y . Y N -0.5962877 16.80268565 0.937604668 15.7 . . CLPP 19 6361452 6368908 Y . Y N -0.313083888 28.69711177 0.587942371 27.8 DM Perrault syndrome 3, 614129 (3) CLPS 6 35794982 35797344 Y . Y N 0.427960039 77.28193552 0.05627476 46.3 DFP . CLSPN 1 35720218 35769967 N Lethal Y N 0.690541937 86.68171558 0.991559393 9.6 . . CLUAP1 16 3500924 3539048 Y . Y N 0.624296078 84.89321063 0.00021954 69.5 . . CMIP 16 81445170 81711762 Y . Y N -1.365331605 4.184754298 0.999886587 3.9 DM . CNBP 3 129169484 129183922 Y . Y N 0.099585278 57.16270186 0.920573055 16.7 DM . CNGA2 X 151738451 151745304 Y . Y N 1.173160662 94.77339816 0.081531694 44.3 . . CNGB1 16 57882340 57971116 Y . Y N 1.657181299 97.76002778 6.63E-25 99.3 DM Retinitis pigmentosa 45, 613767 (3) CNN1 19 11538717 11550323 Y . Y N 0.146667159 60.78022805 0.861520643 19.4 . . CNOT3 19 54137728 54155681 Y . Y N -0.122332238 40.60890201 0.999967222 3.1 DP . CNOT6 5 180494412 180578405 N . Y N -0.417972557 23.58048272 0.478458001 30.6 . . CNPY3 6 42929192 42939287 Y . Y N 0.043387416 52.82745847 0.466081201 30.9 FP . CNR1 6 88139864 88166359 Y Subviable Y N -0.705964203 13.78132778 0.155072222 40.4 DM? . CNTFR 9 34551432 34590140 Y . Y N -0.619754707 16.18336517 0.906207075 17.5 . . CNTN1 12 40692442 41072418 Y . Y N -0.893251699 9.706546275 0.9999892 2.6 DM ?Myopathy, congenital, Compton-North, 612540 (3) COA5 2 98599310 98608515 N Lethal Y N 0.334096466 72.51837703 0.239646156 37.4 . ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3, 616500 (3) COG2 1 230642489 230693982 Y . Y N -0.548094539 18.29021242 0.000167565 70.3 . . COG3 13 45464898 45536630 N Lethal Y N -0.560380247 17.91977774 0.999142796 5.7 . . COL10A1 6 116118923 116158747 Y . Y N 0.142337495 60.36348903 6.36E-05 73.2 DM Metaphyseal chondrodysplasia, Schmid type, 156500 (3) COL11A1 1 102876467 103108496 Y . Y N -1.313952983 4.630433524 0.999980608 2.8 DM Stickler syndrome, type II, 604841 (3); Marshall syndrome, 154780 (3); {Lumbar disc herniation, susceptibility to}, 603932 (3); Fibrochondrogenesis 1, 228520 (3) COL12A1 6 75084326 75206051 Y . Y N -1.122058397 6.361058054 0.999999611 1.4 DP ?Ullrich congenital muscular dystrophy 2, 616470 (3); Bethlem myopathy 2, 616471 (3) COL17A1 10 104031286 104086002 Y . Y N 0.347629069 73.24767031 5.82E-11 93.3 DM Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3); Epidermolysis bullosa, junctional, localisata variant, 226650 (3); Epithelial recurrent erosion dystrophy, 122400 (3) COL19A1 6 69866571 70209976 Y . Y N 1.03858191 93.23956705 5.55E-17 97.8 DM? . COL1A1 17 50183289 50201632 Y . Y N -1.416503651 3.825895699 0.999999999 0.6 DM Osteogenesis imperfecta, type I, 166200 (3); Osteogenesis imperfecta, type II, 166210 (3); Osteogenesis imperfecta, type III, 259420 (3); Osteogenesis imperfecta, type IV, 166220 (3); Ehlers-Danlos syndrome, classic, 130000 (3); Ehlers-Danlos syndrome, type VIIA, 130060 (3); Caffey disease, 114000 (3); {Bone mineral density variation QTL, osteoporosis}, 166710 (3) COL27A1 9 114155560 114312511 Y . Y N 1.345290051 96.07570759 0.999999361 1.6 . ?Steel syndrome, 615155 (3) COL2A1 12 47972965 48004486 Y . Y N -2.076163011 1.499102854 0.999999986 0.8 DM Stickler syndrome, type I, 108300 (3); Kniest dysplasia, 156550 (3); Achondrogenesis, type II or hypochondrogenesis, 200610 (3); SED congenita, 183900 (3); SMED Strudwick type, 184250 (3); Epiphyseal dysplasia, multiple, with myopia and deafness, 132450 (3); Spondyloperipheral dysplasia, 271700 (3); SED, Namaqualand type (3); Osteoarthritis with mild chondrodysplasia, 604864 (3); Vitreoretinopathy with phalangeal epiphyseal dysplasia (3); Platyspondylic skeletal dysplasia, Torrance type, 151210 (3); Otospondylomegaepiphyseal dysplasia, 215150 (3); Avascular necrosis of the femoral head, 608805 (3); Legg-Calve-Perthes disease, 150600 (3); Stickler sydrome, type I, nonsyndromic ocular, 609508 (3); Czech dysplasia, 609162 (3); Spondyloepiphyseal dysplasia, Stanescu type, 616583 (3) COL3A1 2 188974320 189012746 Y . Y N -1.2365219 5.243965966 0.999999998 0.6 DM Ehlers-Danlos syndrome, type IV, 130050 (3); Ehlers-Danlos syndrome, type III, 130020 (3) COL4A1 13 110148963 110307149 Y . Y N -2.185821551 1.308097471 0.999999981 0.9 DM Porencephaly 1, 175780 (3); Brain small vessel disease with or without ocular anomalies, 607595 (3); Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, 611773 (3); {Hemorrhage, intracerebral, susceptibility to}, 614519 (3); ?Retinal arteries, tortuosity of, 180000 (3) COL4A2 13 110305812 110513027 Y . Y N -0.204125672 35.20287087 2.11E-06 81.2 DM Porencephaly 2, 614483 (3); {Hemorrhage, intracerebral, susceptibility to}, 614519 (3) COL4A3BP 5 75368486 75512138 Y . Y N -0.547439633 18.30757655 0.979474243 11.8 DM? Mental retardation, autosomal dominant 34, 616351 (3) COL5A1 9 134641774 134844843 Y . Y N -1.822475886 2.124211379 1 0.2 DM Ehlers-Danlos syndrome, classic type, 130000 (3) COL5A2 2 189031896 189179879 Y . Y N -0.527065778 19.10632633 1 0.4 DM Ehlers-Danlos syndrome, classic type, 130000 (3) COL7A1 3 48564073 48595267 Y . Y N 0.171546715 62.62661342 2.11E-18 98.3 DM Epidermolysis bullosa dystrophica, AD, 131750 (3); Epidermolysis bullosa dystrophica, AR, 226600 (3); Epidermolysis bullosa, pretibial, 131850 (3); EBD, Bart type, 132000 (3); EBD, localisata variant (3); Transient bullous of the newborn, 131705 (3); Epidermolysis bullosa pruriginosa, 604129 (3); Toenail dystrophy, isolated, 607523 (3); EBD inversa, 226600 (3) COLQ 3 15450133 15521751 Y . Y N -0.451660134 22.20292875 1.43E-07 85.7 DM Myasthenic syndrome, congenital, 5, 603034 (3) COMMD1 2 61888724 62147247 Y . Y N 0.603404191 84.22179777 0.372793786 33.5 DM? . COMMD10 5 116084991 116412762 Y . Y N 0.046257695 53.10528448 7.84E-06 78.7 . . COMMD9 11 36269284 36289449 N Lethal Y N 0.300405715 70.5388667 0.635260482 26.5 . . COPG1 3 129249606 129277773 Y . Y N -0.960784853 8.53736181 0.998499314 6.5 . . COPS2 15 49106068 49155661 Y . Y N -0.382526358 25.28216704 0.999572843 5 DM? . COPS3 17 17246820 17281293 Y . Y N -0.415255192 23.67887944 0.992904074 9.2 . . COPS5 8 67043079 67083783 Y . Y N -0.254016546 32.19887712 0.994339561 8.7 . . COPS6 7 100088954 100092200 Y . Y N -0.44718217 22.41129826 0.845861203 20.1 . . COPS8 2 237085312 237100466 Y . Y N -0.010090723 48.66585634 0.138824251 41.2 . . COQ2 4 83261536 83284914 N Lethal Y N . . 0.00022402 69.4 DM Coenzyme Q10 deficiency, primary, 1, 607426 (3); {Multiple system atrophy, susceptibility to}, 146500 (3) COQ4 9 128322536 128334072 Y . Y N 0.358666204 73.88435492 0.000292855 68.7 DM Coenzyme Q10 deficiency, primary, 7, 616276 (3) COQ6 14 73949926 73963670 N Lethal Y N 0.721838716 87.4862534 2.31E-07 85 DM Coenzyme Q10 deficiency, primary, 6, 614650 (3) COQ7 16 19067599 19080095 Y . Y N 0.609140858 84.45331944 4.68E-05 74.1 . . COX15 10 99711844 99732100 Y . Y N 0.19742545 64.22990102 2.16E-09 90.4 DM Leigh syndrome due to cytochrome c oxidase deficiency, 256000 (3); Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119 (3) COX17 3 119654513 119677454 Y . Y N 0.113634918 58.26821786 0.515141893 29.6 . . COX19 7 898778 975599 N Lethal Y N 0.048020238 53.25577357 0.000108651 71.6 . . COX4I1 16 85798633 85807044 N Lethal Y N -0.236138921 33.29860508 0.722238025 24 FP . COX5B 2 97646040 97648383 N Lethal Y N 0.31158679 71.14082306 0.412576836 32.4 . . COX7C 5 86617904 86620962 N Lethal Y N -0.007371823 48.85686172 0.545791853 28.7 . . CPB2 13 46053186 46105076 Y . Y N -0.320432866 28.29194883 2.81E-06 80.6 DFP . CPS1 2 210477682 210679107 Y . Y N -1.168726891 5.898014702 0.083357368 44.2 DM Carbamoylphosphate synthetase I deficiency, 237300 (3); {Pulmonary hypertension, neonatal, susceptibility to}, 615371 (3); {Venoocclusive disease after bone marrow transplantation} (3) CPSF3 2 9423568 9473101 Y Subviable Y N -0.902009032 9.53869306 3.46E-05 74.9 . . CPT1A 11 68754620 68844410 Y . Y N -0.24127355 32.94553453 0.939139733 15.6 DM CPT deficiency, hepatic, type IA, 255120 (3) CPT1B 22 50568861 50578465 Y . Y N -0.298429137 29.54216589 2.03E-09 90.5 DM? . CPT2 1 53196429 53214197 N Subviable Y N 0.427452644 77.24720727 4.77E-07 83.8 DM Myopathy due to CPT II deficiency, 255110 (3); CPT deficiency, hepatic, type II, 600649 (3); CPT II deficiency, lethal neonatal, 608836 (3); {Encephalopathy, acute, infection-induced, 4, susceptibility to}, 614212 (3) CPVL 7 28995231 29195451 Y . Y N 0.554853813 82.61272212 4.07E-07 84 . . CR1L 1 207645113 207738416 Y Lethal Y N 1.611432942 97.55744632 3.56E-15 97 . . CRADD 12 93677375 93894840 Y . Y N 0.106281943 57.6662615 0.731812881 23.7 DM? Mental retardation, autosomal recessive 34, 614499 (3) CRB1 1 197268204 197478455 Y . Y N -1.036383681 7.408693639 3.36E-09 90 DM Retinitis pigmentosa-12, autosomal recessive, 600105 (3); Leber congenital amaurosis 8, 613835 (3); Pigmented paravenous chorioretinal atrophy, 172870 (3) CRB2 9 123356170 123380324 Y . Y N 0.255191834 67.76060659 3.46E-05 74.9 . Focal segmental glomerulosclerosis 9, 616220 (3); Ventriculomegaly with cystic kidney disease, 219730 (3) CRB3 19 6463777 6467221 Y . Y N -0.072028905 44.27852058 0.369971429 33.6 . . CREB1 2 207529737 207603431 Y . Y N -0.275568538 30.94287203 0.969960677 13 DM Histiocytoma, angiomatoid fibrous, somatic, 612160 (3) CREB3 9 35732320 35737007 N Subviable Y N 0.361535788 73.98853968 8.87E-07 82.7 DM? . CREB3L2 7 137874979 138002067 Y . Y N 0.001391072 49.59773109 0.609225184 27.2 . . CREB5 7 28299321 28825894 Y . Y N -0.340071051 27.25010129 0.989844565 10 . . CREBBP 16 3725054 3880726 Y . Y N -3.939753354 0.225733634 1 0.2 DM Rubinstein-Taybi syndrome, 180849 (3) CRIM1 2 36355926 36551135 Y . Y N -0.609744769 16.46119118 0.977883079 12.1 . . CRIPT 2 46616416 46625742 Y Lethal Y N -0.021421177 47.83816635 0.01861462 52 . Short stature with microcephaly and distinctive facies, 615789 (3) CRISPLD2 16 84819984 84920768 N Lethal Y N 0.92841146 91.69415987 7.38E-06 78.8 . . CRK 17 1420689 1463162 Y . Y N -0.507207153 19.92244024 0.864536311 19.3 DM? . CRKL 22 20917426 20953749 Y . Y N -0.515667713 19.60409793 0.163453647 40 DM? . CRLF1 19 18572220 18607741 Y . Y N 0.142990968 60.43294553 0.026855594 50.2 DM Cold-induced sweating syndrome 1, 272430 (3) CRTC3 15 90529925 90645345 N Subviable Y N -0.308950809 28.98072582 0.983929956 11.1 . . CS 12 56271699 56300392 N Lethal Y N 0.120331361 58.7428373 0.999828376 4.2 . . CSE1L 20 49046246 49096960 Y . Y N -1.840041533 2.077907044 0.999981566 2.8 . . CSF1 1 109910242 109930992 Y . Y N 0.316668167 71.53440991 0.939718909 15.6 DP . CSF1R 5 150053291 150113372 Y . Y N -0.159546765 38.05058749 0.993497648 9 DM Leukoencephalopathy, diffuse hereditary, with spheroids, 221820 (3) CSF2 5 132073790 132076170 Y . Y N 0.063983137 54.4886265 0.803849286 21.5 DP . CSF3R 1 36466043 36483278 N Subviable Y N 0.654617686 85.772993 1.42E-06 82 DM ?Neutrophilia, hereditary, 162830 (3) CSK 15 74782057 74803198 Y . Y N -0.481825845 20.92377149 0.999458352 5.3 DP . CSNK1A1 5 149492197 149551552 Y . Y N -0.247470694 32.59246397 0.99365723 9 . . CSNK1D 17 82239023 82273731 Y . Y N -0.5831962 17.28888117 0.991910744 9.5 DM Advanced sleep-phase syndrome, familial, 2, 615224 (3) CSNK2A1 20 473591 543821 Y . Y N -0.069158154 44.44637379 0.999646698 4.8 . . CSNK2B 6 31665880 31673546 Y . Y N 0.099585278 57.16270186 0.943856699 15.3 . . CSRNP1 3 39141855 39154562 Y . Y N -0.405684762 24.11298258 0.599530989 27.5 . . CSRP2BP 20 18138118 18188387 Y . Y N -0.954236861 8.658910691 1.35E-08 88.5 . . CSRP3 11 19182030 19210573 Y . Y N -0.514710293 19.63882619 0.002208868 61.5 DM ?Cardiomyopathy, dilated, 1M, 607482 (3); Cardiomyopathy, hypertrophic, 12, 612124 (3) CST6 11 66011841 66013505 Y . Y N -0.022378042 47.78028593 0.723124873 24 . . CTBP1 4 1211448 1249953 Y . Y N -0.386200114 25.12588991 0.979763654 11.8 . . CTBP2 10 124984317 125161170 Y . Y N 1.062052665 93.51160502 0.655184958 25.9 . . CTCF 16 67562407 67639183 Y . Y N -1.39358604 3.959020663 0.997924958 7 DM Mental retardation, autosomal dominant 21, 615502 (3) CTDNEP1 17 7243591 7252491 Y . Y N -0.162065544 37.85379406 0.972679931 12.7 . . CTDSPL2 15 44427234 44529038 N Subviable Y N -0.520298739 19.46518493 0.995978214 8 . . CTGF 6 131948176 131951373 Y . Y N 0.257299872 67.86479134 0.124048406 41.9 DFP . CTNNA1 5 138610967 138935034 Y . Y N -1.506001977 3.328124096 0.97055429 12.9 DM . CTNNA2 2 79185231 80648861 Y . Y N -1.481576452 3.461249059 0.999717953 4.6 . . CTNNB1 3 41194837 41260096 Y . Y N -0.871037997 10.15801354 0.99981275 4.2 DM? Mental retardation, autosomal dominant 19, 615075 (3); Colorectal cancer, somatic, 114500 (3); Pilomatricoma, somatic, 132600 (3); Ovarian cancer, somatic, 167000 (3); Hepatocellular carcinoma, somatic, 114550 (3) CTNNBIP1 1 9848276 9910336 Y Subviable Y N 0.122094661 58.87017422 0.02298674 50.9 . . CTR9 11 10750987 10779743 N Lethal Y N -1.108136077 6.459454766 0.999999447 1.5 . . CTSD 11 1752752 1763992 N Subviable Y N -0.333524957 27.5684436 0.08918586 43.8 DM Ceroid lipofuscinosis, neuronal, 10, 610127 (3) CTSL 9 87725519 87731393 Y . Y N 0.221697584 65.72321584 0.009341808 55.2 . . CUBN 10 16823964 17129831 Y . Y N 2.823688982 99.3922556 3.03E-28 99.6 DM Megaloblastic anemia-1, Finnish type, 261100 (3) CUL1 7 148697914 148801036 Y . Y N -0.813882639 11.30983388 0.99996329 3.1 . . CUL3 2 224470150 224585397 Y . Y N -0.972412709 8.334780344 0.974063405 12.5 DM Pseudohypoaldosteronism, type IIE, 614496 (3) CUL4B X 120524609 120575794 Y . Y N -0.506249788 19.96874457 0.999846678 4.1 DM Mental retardation, X-linked, syndromic 15 (Cabezas type), 300354 (3) CUL7 6 43037617 43053945 Y . Y N -0.292119288 29.88366036 2.24E-11 93.8 DM 3-M syndrome 1, 273750 (3) CUX1 7 101815904 102283957 Y . Y N -1.893053829 1.892689703 0.999988878 2.6 . . CUX2 12 111034024 111350554 Y . Y N -1.705512342 2.425189558 0.999656385 4.8 DM? . CWC27 5 64768930 65018763 N Subviable Y N -0.046497232 46.10754182 1.02E-05 78 . . CXADR 21 17512382 17593579 Y . Y N -0.133814513 39.83909244 0.342891275 34.4 . . CXCL12 10 44370165 44386493 Y . Y N 0.292902568 70.08739943 0.118587913 42.2 DFP {AIDS, resistance to}, 609423 (3) CXCL14 5 135570679 135579279 Y . Y N 0.25810805 67.9284598 0.022786189 51 . . CXCR4 2 136114349 136118165 Y . Y N -0.190163599 36.15789778 0.42745098 32.1 DM WHIM syndrome, 193670 (3); Myelokathexis, isolated (3) CXXC1 18 50282343 50288304 Y . Y N -1.442287742 3.715922903 0.997862105 7 . . CYCS 7 25120091 25125361 Y . Y N 0.001088113 49.55142675 0.583556979 27.9 DM Thrombocytopenia 4, 612004 (3) CYFIP1 15 22867052 22981063 Y . Y N -2.7697272 0.740869364 0.994933032 8.4 . . CYFIP2 5 157266079 157395595 Y . Y N . . 0.999998603 1.8 . . CYLD 16 50742050 50801935 Y . Y N -0.857792997 10.41847543 0.994720107 8.5 DM Cylindromatosis, familial, 132700 (3); Brooke-Spiegler syndrome, 605041 (3); Trichoepithelioma, multiple familial, 1, 601606 (3) CYP11A1 15 74337759 74367740 Y . Y N -0.655202523 15.19939804 6.60E-09 89.3 DM Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, 613743 (3) CYP11B2 8 142910559 142917843 Y . Y N 0.586932552 83.75875441 3.93E-13 95.6 DM Hypoaldosteronism, congenital, due to CMO II deficiency, 610600 (3); Hypoaldosteronism, congenital, due to CMO I deficiency, 203400 (3); {Low renin hypertension, susceptibility to} (3); Aldosterone to renin ratio raised (3) CYP1A2 15 74748844 74756202 Y . Y N 0.601938918 84.16391735 3.29E-10 92.1 DFP . CYP24A1 20 54153449 54173973 Y . Y N 0.67218594 86.23603635 3.24E-10 92.1 DM Hypercalcemia, infantile, 143880 (3) CYP26A1 10 93073475 93077890 Y . Y N -0.738695505 12.9420617 6.64E-05 73.1 FP . CYP26B1 2 72129238 72148038 Y . Y N 0.6271665 84.98003126 0.954353507 14.4 DM Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies, 614416 (3) CYP51A1 7 92112151 92142952 Y . Y N -0.332568014 27.61474793 9.86E-06 78.1 DM . CYP7A1 8 58490178 58500236 Y . Y N 0.139315016 60.15511952 0.003455361 59.8 DM . CYR61 1 85580761 85583962 Y . Y N -0.434892888 22.97273832 0.882250776 18.5 . . CYS1 2 10056780 10080944 Y . Y N . . 0.00331532 59.9 . . DAAM1 14 59188646 59371405 Y Lethal Y N -1.043326658 7.32187301 0.999990849 2.5 DM . DAB1 1 56994778 58546734 Y . Y N -0.262170161 31.70110552 0.981408567 11.5 . Ciliary dyskinesia, primary, 2, 606763 (3) DAB2 5 39371675 39462300 Y . Y N -0.099672261 42.11958095 0.980417114 11.7 DM? . DACH1 13 71437966 71867192 Y Lethal Y N -0.878541444 9.972796203 0.995944076 8 DM . DACT1 14 58633967 58648321 Y . Y N -0.559275987 17.95450599 0.816597553 21.1 DM . DAD1 14 22564905 22589269 Y . Y N 0.016094318 50.71482318 0.276496726 36.3 . . DAG1 3 49468703 49535618 Y . Y N -0.510431823 19.78931527 0.940921791 15.5 DM Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818 (3); Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9, 616538 (3) DAND5 19 12965159 12974762 Y . Y N 0.053760719 53.61463217 1.68E-05 76.7 . . DAP3 1 155687960 155739010 Y . Y N -0.10747793 41.66232564 1.91E-05 76.4 . . DAPK3 19 3958453 3971123 N . Y N -0.183464709 36.53990855 0.061134495 45.9 DM . DARS2 1 173824503 173858546 Y . Y N -0.852203082 10.52266018 4.41E-09 89.7 DM Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105 (3) DAXX 6 33318558 33329269 Y . Y N -1.226431803 5.336574637 0.84273688 20.2 . . DAZAP1 19 1407569 1435687 Y . Y N -0.791372557 11.73236094 0.999571004 5 . . DBH 9 133636360 133659344 Y . Y N 1.944692678 98.47195694 2.54E-06 80.8 DM [Dopamine-beta-hydroxylase activity levels, plasma] (3); Dopamine beta-hydroxylase deficiency, 223360 (3) DBI 2 119366921 119372560 Y . Y N 0.337921524 72.70938242 0.00016426 70.4 DP . DBN1 5 177456608 177474401 N Subviable Y N -0.780845438 11.99282283 0.962685619 13.7 . . DBNL 7 44044640 44069456 Y . Y N 0.163586571 62.05938531 0.070981914 45 . . DBT 1 100186919 100249834 Y . Y N 0.316517317 71.52862187 0.000147622 70.7 DM Maple syrup urine disease, type II, 248600 (3) DBX1 11 20156155 20160613 Y . Y N . . 0.147780537 40.7 . . DCC 18 52340172 53535903 Y Lethal Y N -0.65831326 15.06627308 0.999998957 1.7 DM Mirror movements 1, 157600 (3); Colorectal cancer, somatic, 114500 (3); Esophageal carcinoma, somatic 133239 (3) DCHS1 11 6621323 6655854 Y . Y N 0.104461608 57.55050067 0.999995438 2.2 . Van Maldergem syndrome 1, 601390 (3) DCLRE1B 1 113905141 113914086 Y . Y N -0.307188276 29.02703016 0.107858132 42.7 . . DCP2 5 112976702 113020970 N Lethal Y N -0.456445049 22.02349945 0.856306645 19.7 . . DCPS 11 126303752 126345749 N Lethal Y N 0.136444713 59.97569022 0.001638024 62.7 . Al-Raqad syndrome, 616459 (3) DCTN1 2 74361154 74392087 Y . Y N -1.515974584 3.258667593 0.291891036 35.9 DM Neuropathy, distal hereditary motor, type VIIB, 607641 (3); {Amyotrophic lateral sclerosis, susceptibility to}, 105400 (3); Perry syndrome, 168605 (3) DCTN5 16 23641392 23677455 Y . Y N -0.201495045 35.359148 0.020437409 51.5 . . DCX X 111293780 111412375 Y . Y N -0.093581117 42.57683626 0.863196407 19.4 DM Lissencephaly, X-linked, 300067 (3); Subcortical laminal heteropia, X-linked, 300067 (3) DDAH1 1 85318481 85578363 Y . Y N 0.127834418 59.29270128 0.168276873 39.8 DFP . DDB1 11 61299451 61342596 Y . Y N -1.897217451 1.869537535 0.999992284 2.4 . . DDC 7 50458436 50565457 Y . Y N -0.670209032 14.74793078 4.61E-05 74.1 DM Aromatic L-amino acid decarboxylase deficiency, 608643 (3) DDOST 1 20651767 20661544 N Lethal Y N -0.500506623 20.165538 0.134980574 41.3 DM ?Congenital disorder of glycosylation, type Ir, 614507 (3) DDX11 12 31073845 31104791 Y . Y N 1.055337603 93.43057244 . . DM Warsaw breakage syndrome, 613398 (3) DDX17 22 38483440 38507660 Y . Y N -0.790415175 11.73814898 . . . . DDX20 1 111755245 111768016 Y . Y N -0.115635009 41.08930949 4.19E-07 84 DP . DDX21 10 68956128 68985073 Y . Y N -0.032296543 47.14360132 0.998039216 6.9 . . DDX27 20 49219295 49244077 Y . Y N -0.389571521 24.98118886 0.250170092 37.1 . . DDX41 5 177511577 177517469 N Lethal Y N -1.340906013 4.393123806 0.00098438 64.8 . . DDX5 17 64499616 64508199 Y . Y N -0.946072869 8.786247612 0.997454099 7.3 DFP . DDX51 12 132136594 132144335 Y . Y N 0.312189332 71.2160676 2.28E-10 92.3 . . DDX55 12 123602077 123620941 Y . Y N -0.403771142 24.18822712 6.01E-06 79.2 . . DDX58 9 32455705 32526324 Y . Y N -0.41671472 23.62678706 1.09E-14 96.7 DFP Singleton-Merten syndrome 2, 616298 (3) DEAF1 11 644233 706715 Y . Y N -0.566120926 17.75192452 0.000193157 69.9 DM Mental retardation, autosomal dominant 24, 615828 (3) DEFB1 8 6870575 6878022 Y . Y N 0.913916314 91.33530127 5.07E-05 73.8 DFP . DEGS1 1 224175756 224193441 Y . Y N -0.075704275 43.9775424 0.859651069 19.5 . . DENND4C 9 19230435 19373545 N Lethal Y N -1.10845717 6.453666725 0.406967594 32.6 . . DENR 12 122752774 122771064 N Lethal Y N 0.281573966 69.3928344 0.846252783 20 DM? . DEPDC5 22 31753951 31907034 N Lethal Y N -1.075812701 6.853041616 0.999999934 1 DM Epilepsy, familial focal, with variable foci, 604364 (3) DERL1 8 123013164 123042423 Y . Y N -0.197666633 35.6485501 0.011588669 54.3 . . DERL2 17 5471251 5486811 Y Lethal Y N -0.268065472 31.35961104 0.932959932 15.9 . . DGAT2 11 75759512 75801535 Y . Y N 0.491002049 80.12965214 7.51E-08 86.5 . . DGCR8 22 20080232 20111877 Y . Y N -0.801442629 11.54135556 0.999895838 3.8 . . DGKD 2 233354507 233472104 Y . Y N -1.873495317 1.985298374 0.977070555 12.2 DM . DHCR24 1 54849633 54887218 Y . Y N -0.575538078 17.49146264 0.969136893 13.1 DM Desmosterolosis, 602398 (3) DHCR7 11 71428193 71452868 Y . Y N 1.131966848 94.34508306 5.04E-08 87 DM Smith-Lemli-Opitz syndrome, 270400 (3) DHFR 5 80626228 80654983 N Lethal Y N 0.06302642 54.36707762 0.276594318 36.3 DM Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839 (3) DHODH 16 72008588 72027664 N Lethal Y N 0.022943191 51.29941541 0.012823909 53.9 DM Miller syndrome, 263750 (3) DHRS3 1 12567910 12617731 Y . Y N 0.494679511 80.27435319 0.661359704 25.7 . . DHRS7B 17 21123364 21193265 Y . Y N -0.064373744 44.83996064 4.76E-08 87 . . DHX29 5 55256245 55307722 Y . Y N -1.216740575 5.423395265 0.003527316 59.7 . . DHX30 3 47802909 47850195 N Lethal Y N -1.846455015 2.043178793 0.999999463 1.5 . . DHX33 17 5440912 5469060 N Lethal Y N 0.248336613 67.36701974 0.008382278 55.7 . . DHX36 3 154272546 154324497 Y . Y N -1.842768844 2.048966835 0.990555801 9.8 DP . DHX58 17 42101404 42112733 Y . Y N 0.399354559 75.80019679 7.29E-08 86.5 . . DHX9 1 182839369 182887751 Y . Y N -1.938567728 1.805869074 0.999999986 0.8 . . DIAPH3 13 59665583 60163987 Y Lethal Y N 0.179202872 63.11859698 1.23E-12 95.2 DM Auditory neuropathy, autosomal dominant, 1, 609129 (3) DICER1 14 95086228 95158010 Y Lethal Y N -2.080815752 1.48752677 0.999994551 2.3 DM Pleuropulmonary blastoma, 601200 (3); Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors, 138800 (3); Rhabdomyosarcoma, embryonal, 2, 180295 (3) DIDO1 20 62877738 62937952 Y . Y N -1.324831373 4.520460728 0.999990769 2.5 . . DIO3 14 101561351 101563452 Y . Y N -0.42275828 23.41841755 0.768046571 22.7 . . DIS3 13 72752169 72782096 N Lethal Y N 0.170588539 62.54558083 2.05E-11 93.9 . . DISP1 1 222872271 223005995 Y . Y N -1.187428873 5.707009319 4.23E-06 79.8 DM . DKK1 10 52314296 52318042 Y . Y N -0.166697481 37.63384847 0.075574375 44.7 . . DLC1 8 13083361 13604610 Y . Y N -0.716064722 13.50350177 0.992807273 9.2 . . DLD 7 107890970 107931730 Y . Y N -0.65903038 15.054697 0.371053213 33.6 DM Dihydrolipoamide dehydrogenase deficiency, 246900 (3) DLG1 3 197042560 197299300 Y . Y N -0.108131996 41.58129305 0.998742049 6.2 DM? . DLG4 17 7189890 7219702 Y . Y N -1.189062618 5.678069109 0.996592666 7.7 . . DLK1 14 100725705 100738224 Y . Y N -0.370083231 25.87254732 0.40097125 32.7 . . DLL1 6 170282206 170306565 Y . Y N -0.279895326 30.63610581 0.999053067 5.9 DM . DLL3 19 39498895 39508481 Y . Y N . . 1.65E-05 76.8 DM Spondylocostal dysostosis 1, autosomal recessive, 277300 (3) DLL4 15 40929340 40939072 Y . Y N -0.759291969 12.41534989 0.982859474 11.3 . . DLX2 2 172099439 172102900 Y . Y N 0.164393154 62.10568965 0.887610614 18.3 . {Dyslexia, susceptibility to, 2}, 600202 (3) DLX3 17 49990005 49995224 Y . Y N -0.006263422 49.00156277 0.011365347 54.4 DM Trichodontoosseous syndrome, 190320 (3); Amelogenesis imperfecta, type IV, 104510 (3) DLX5 7 97020392 97025097 Y . Y N -0.497789345 20.304451 0.675979516 25.3 DM ?Split-hand/foot malformation 1 with sensorineural hearing loss, 220600 (3) DLX6 7 97005548 97011039 Y . Y N 0.169026574 62.42981999 0.842830433 20.1 DM . DMAP1 1 44213455 44220681 Y Lethal Y N -0.455487979 22.06401574 0.336141633 34.7 . . DMBT1 10 122560665 122643736 Y . Y N 5.924601496 99.88423916 7.36E-32 99.7 DFP . DMBX1 1 46506996 46514226 Y . Y N 0.279002038 69.25970944 0.915995647 17 . . DMD X 31097677 33339441 Y . Y N 1.119326322 94.1714418 1 0.5 DM Duchenne muscular dystrophy, 310200 (3); Becker muscular dystrophy, 300376 (3); Cardiomyopathy, dilated, 3B, 302045 (3) DMRT2 9 1050354 1057552 Y . Y N 0.165651215 62.2098744 0.460939428 31.1 . . DMRTA2 1 50417550 50423500 N . Y N . . . . . . DMTF1 7 87152361 87196337 Y . Y N 0.232221321 66.37726457 0.956216303 14.2 . . DMXL2 15 51447711 51622833 Y . Y N -3.203396483 0.497771604 0.999999999 0.5 . ?Polyendocrine-polyneuropathy syndrome, 616113 (3) DNA2 10 68414064 68472121 Y . Y N . . 1.95E-08 88.2 DM Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 6, 615156 (3); ?Seckel syndrome 8, 615807 (3) DNAAF2 14 49625174 49635230 Y Lethal Y N 0.680646104 86.44440586 4.79E-06 79.6 DM . DNAH5 5 13690331 13944543 Y . Y N 0.705607574 87.01742201 5.79E-37 99.9 DM Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644 (3) DNAI1 9 34457414 34520989 N . Y N 0.352422016 73.54864849 0.000127344 71.2 DM Ciliary dyskinesia, primary, 1, with or without situs inversus, 244400 (3) DNAJA1 9 33025211 33039907 N Subviable Y N -0.574735561 17.50303872 0.260111369 36.7 . . DNAJA3 16 4425805 4456775 Y . Y N -0.11674285 40.99670082 0.385677126 33.1 . . DNAJB12 10 72332830 72355230 N Subviable Y N -0.112110344 41.35555941 0.039938674 48.3 . . DNAJB6 7 157335381 157417439 Y . Y N -0.150734446 38.66411993 0.963595741 13.6 DM Muscular dystrophy, limb-girdle, type 1E, 603511 (3) DNAJC16 1 15526813 15592379 N Subviable Y N -0.296664745 29.63477456 3.79E-05 74.6 . . DNAJC17 15 40765155 40807478 Y Lethal Y N 0.298641418 70.42310586 0.028539298 50 . . DNAJC21 5 34929593 34958964 N Subviable Y N -0.0998233 42.1137929 1.45E-05 77.1 . . DNAJC24 11 31369840 31431849 Y . Y N 0.14651721 60.7454998 7.25E-07 83.1 . . DNAJC6 1 65248219 65415869 Y . Y N -1.139107606 6.158476587 0.999188351 5.7 DM Parkinson disease 19, juvenile-onset, 615528 (3) DNAJC8 1 28199456 28233025 N Lethal Y N 0.155933478 61.44006483 0.582006642 27.9 . . DNAJC9 10 73183362 73248862 N Lethal Y N -0.03259986 47.11466111 0.547006457 28.7 . . DNAL4 22 38778508 38794198 N Subviable Y N 0.37161271 74.48052324 0.323422021 35.1 . ?Mirror movements 3, 616059 (3) DNASE2 19 12875211 12881468 Y . Y N 0.171089591 62.59767321 0.053733404 46.6 DM . DNM1 9 128203352 128255248 Y . Y N -0.568034909 17.71140823 0.999863839 4 DFP Epileptic encephalopathy, early infantile, 31, 616346 (3) DNM1L 12 32679200 32745650 Y Lethal Y N -0.803507355 11.4776871 0.176947822 39.5 DM Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission, 614388 (3) DNM2 19 10718079 10833488 Y . Y N -1.371736065 4.138449962 0.999968599 3 DM Charcot-Marie-Tooth disease, dominant intermediate B, 606482 (3); Myopathy, centronuclear, 160150 (3); Charcot-Marie-Tooth disease, axonal, type 2M, 606482 (3); Lethal congenital contracture syndrome 5, 615368 (3) DNMT1 19 10133345 10231286 Y . Y N -2.620501615 0.868206286 0.999999999 0.5 DM Neuropathy, hereditary sensory, type IE, 614116 (3); Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, 604121 (3) DNMT3A 2 25227855 25342590 Y Subviable Y N -2.660996798 0.827689992 7.73E-45 100 DM? Tatton-Brown-Rahman syndrome, 615879 (3) DNMT3B 20 32762385 32809356 Y . Y N -0.31439182 28.58135093 0.9997746 4.4 DM Immunodeficiency-centromeric instability-facial anomalies syndrome 1, 242860 (3) DNMT3L 21 44246339 44262216 Y . Y N 0.372865427 74.57313191 1.26E-06 82.3 DP . DOCK1 10 126905409 127452517 Y . Y N . . 0.36842317 33.7 . . DOHH 19 3490821 3500940 N . Y N . . 0.020102024 51.7 . . DOK7 4 3463311 3501473 Y . Y N 2.530966555 99.20703826 0.004808382 58.3 DM Myasthenic syndrome, congenital, 10, 254300 (3); ?Fetal akinesia deformation sequence, 208150 (3) DONSON 21 33559542 33588708 Y . Y N 0.324977012 72.03796955 4.37E-05 74.3 . . DOT1L 19 2164149 2232578 Y . Y N -3.073795696 0.584592232 0.999988962 2.6 . . DPAGT1 11 119096503 119108331 Y . Y N -0.572820814 17.5551311 0.000187518 70 DM Congenital disorder of glycosylation, type Ij, 608093 (3); Myasthenic syndrome, congenital, 13, with tubular aggregates, 614750 (3) DPH1 17 2030110 2043430 Y . Y N 0.975193131 92.37714881 2.34E-08 88 . . DPH2 1 43970000 43973369 Y . Y N -0.029577629 47.32881866 0.006846748 56.7 . . DPH3 3 16257978 16264972 Y . Y N 0.062069705 54.29762111 0.044670818 47.6 . . DPM1 20 50934867 50958555 N Lethal Y N 0.136294125 59.95253806 0.536747472 29 DM Congenital disorder of glycosylation, type Ie, 608799 (3) DPM2 9 127935099 127938484 N Lethal Y N 0.372568852 74.5441917 0.019800957 51.8 DM Congenital disorder of glycosylation, type Iu, 615042 (3) DPP9 19 4675224 4724673 Y Lethal Y N -0.990944042 8.010649997 0.999114701 5.8 . . DPPA4 3 109326141 109337572 Y . Y N -0.012809608 48.480639 0.001601461 62.8 . . DPY30 2 31867809 32039812 Y . Y N 0.121138064 58.78914163 0.451358336 31.3 . . DRAP1 11 65919257 65921561 Y . Y N -0.024139966 47.63558488 0.21530625 38.3 . . DRD1 5 175440039 175444208 Y . Y N -0.344856099 27.00700353 0.89643155 17.9 DFP . DRD5 4 9781680 9784009 Y . Y N 0.630037452 85.04948776 2.52E-14 96.5 DM? {Blepharospasm, primary benign}, 606798 (3); Dystonia, primary cervical (3); {Attention deficit-hyperactivity disorder, susceptibility to}, 143465 (3) DRGX 10 49364181 49396016 Y . Y N -0.046649065 46.09017769 0.25232287 37 . . DROSHA 5 31400497 31532196 Y . Y N -1.18781305 5.701221277 0.996399648 7.8 DP . DSC3 18 30990008 31042815 Y . Y N 0.407970442 76.24587602 5.45E-20 98.7 DM ?Hypotrichosis and recurrent skin vesicles, 613102 (3) DSCAM 21 40010999 40847139 Y . Y N -3.89556726 0.24309776 1 0.5 DFP . DSCAML1 11 117427773 117817525 Y . Y N -3.770659943 0.306766221 0.999999092 1.7 . . DSCC1 8 119833976 119856010 Y . Y N 0.046257695 53.10528448 0.022718626 51 . . DSG2 18 31498043 31549008 Y . Y N 1.103237203 93.98043642 0.000747067 65.7 DM Arrhythmogenic right ventricular dysplasia 10, 610193 (3); Cardiomyopathy, dilated, 1BB, 612877 (3) DSG3 18 31447795 31478702 Y . Y N -0.242081466 32.91080627 3.36E-13 95.7 . . DSG4 18 31376777 31414912 Y . Y N 0.858495013 90.3455461 6.32E-05 73.3 DM Hypotrichosis 6, 607903 (3) DSP 6 7541575 7586717 Y . Y N -2.049438269 1.539619147 0.999901543 3.8 DM Keratosis palmoplantaris striata II, 612908 (3); Cardiomyopathy, dilated, with woolly hair and keratoderma, 605676 (3); Arrhythmogenic right ventricular dysplasia 8, 607450 (3); Skin fragility-woolly hair syndrome, 607655 (3); Epidermolysis bullosa, lethal acantholytic, 609638 (3); Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, 615821 (3) DST 6 56457987 56954628 Y . Y N -4.535838017 0.133124964 1 0.2 DM ?Neuropathy, hereditary sensory and autonomic, type VI, 614653 (3); Epidermolysis bullosa simplex, sutosomal recessive 2, 615425 (3) DTL 1 212035553 212107400 Y Lethal Y N -1.471348599 3.501765353 0.007013382 56.6 . . DUSP16 12 12474210 12562383 Y . Y N -0.779888867 12.015975 0.112697836 42.5 . . DUSP6 12 89347232 89353271 Y . Y N -0.36640817 26.06934074 0.911205141 17.2 DM? Hypogonadotropic hypogonadism 19 with or without anosmia, 615269 (3) DUSP9 X 153642492 153651326 Y . Y N 0.157846676 61.58476587 0.648808513 26 . . DVL2 17 7225341 7234545 Y . Y N -0.134317388 39.78121202 0.011361464 54.4 DM? . DVL3 3 184155388 184173610 Y . Y N -0.833369386 10.92203508 0.995402942 8.3 DM? . DYNC1H1 14 101964528 102050792 Y . Y N -7.789490503 0.017364126 1 0.1 DM Charcot-Marie-Tooth disease, axonal, type 20, 614228 (3); Mental retardation, autosomal dominant 13, 614563 (3); Spinal muscular atrophy, lower extremity-predominant 1, AD, 158600 (3) DYNC1I2 2 171687409 171748420 Y . Y N -0.449899067 22.28396134 5.19E-07 83.7 . . DYNC2H1 11 103109431 103479863 Y . Y N -0.304419691 29.23539966 2.18E-21 99 DM Short-rib thoracic dysplasia 3 with or without polydactyly, 613091 (3) DYNC2LI1 2 43774039 43810010 Y . Y N 0.378455173 74.86832205 8.38E-05 72.4 . . DYNLL1 12 120469850 120498493 Y . Y N 0.090168851 56.43919662 0.696580483 24.7 . . DYNLRB1 20 34516409 34540958 Y . Y N -0.021421177 47.83816635 0.84280276 20.2 . . DYRK1A 21 37365790 37517450 Y . Y N -0.910317479 9.399780054 0.999584542 5 DM Mental retardation, autosomal dominant 7, 614104 (3) DYX1C1 15 55410525 55508234 Y . Y N 0.615836151 84.63274874 4.61E-07 83.9 DFP {Dyslexia, susceptibility to, 1}, 127700 (3); Ciliary dyskinesia, primary, 25, 615482 (3) DZIP1 13 95578202 95644703 Y . Y N -0.408255186 24.01458587 3.33E-12 94.8 . . DZIP3 3 108589682 108694846 Y . Y N -0.931585708 9.029345372 3.74E-10 92 . . E2F3 6 20401906 20493715 Y . Y N 0.201101698 64.45563466 0.842457846 20.2 . . E2F4 16 67192169 67198918 Y . Y N -0.26327977 31.63743706 0.320999401 35.1 . . E4F1 16 2223566 2235742 Y . Y N 0.242747692 67.06025352 0.434844067 31.8 . . EAF1 3 15427355 15450635 N Lethal Y N 0.075313076 55.32210453 0.07056505 45 . . EARS2 16 23522014 23557731 Y . Y N 0.53521454 81.88921688 2.07E-07 85.1 DM Combined oxidative phosphorylation deficiency 12, 614924 (3) EBF2 8 25841730 26045397 Y . Y N -1.022065824 7.588122938 0.97196579 12.8 . . EBF3 10 129835283 129963841 Y . Y N -1.221950437 5.37709093 0.998590014 6.4 . . EBP X 48521158 48528716 Y . Y N 0.434507168 77.58870174 0.858629818 19.6 DM Chondrodysplasia punctata, X-linked dominant, 302960 (3); MEND syndrome, 300960 (3) ECD 10 73130155 73169055 Y . Y N 0.340134142 72.88302367 1.15E-09 91 . . ECE1 1 21217247 21345504 Y . Y N -0.070616959 44.38270533 0.999768646 4.4 DM Hirschsprung disease, cardiac defects, and autonomic dysfunction, 613870 (3); {Hypertension, essential, susceptibility to}, 145500 (3) ECEL1 2 232479827 232487828 Y . Y N -0.095039457 42.40898304 9.11E-05 72.2 DM Arthrogryposis, distal, type 5D, 615065 (3) ECM1 1 150508062 150513789 N Subviable Y N 0.266060797 68.42623141 7.33E-08 86.5 DM Urbach-Wiethe disease, 247100 (3) ECSIT 19 11505916 11529174 Y . Y N 0.114892509 58.36661457 0.015646574 52.9 DM . ECT2 3 172750682 172821474 Y Lethal Y N -0.709489106 13.6597789 2.56E-05 75.6 . . EDAR 2 108894471 108989372 Y Subviable Y N -0.224655138 34.04526249 8.31E-05 72.4 DM Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, 129490 (3); Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, 224900 (3); [Hair morphology 1, hair thickness], 612630 (3) EDARADD 1 236348262 236484914 Y . Y N -0.063568931 44.88047693 0.103567655 42.9 DM Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive, 614941 (3); Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant, 614940 (3) EDC4 16 67873023 67884503 Y . Y N -1.782473454 2.245760259 0.995195899 8.4 . . EDN1 6 12290363 12297194 Y . Y N 0.658795771 85.87717775 0.081020067 44.4 DM? Auriculocondylar syndrome 3, 615706 (3); Question mark ears, isolated, 612798 (3); {High density lipoprotein cholesterol level QTL 7} (3) EDN2 1 41478775 41484673 Y . Y N 0.847338939 90.16032876 0.011086441 54.5 DP . EDN3 20 59300427 59325992 Y . Y N -0.195752553 35.7874631 0.072394908 44.9 DM Waardenburg syndrome, type 4B, 613265 (3); Central hypoventilation syndrome, congenital, 209880 (3); {Hirschsprung disease, susceptibility to, 4}, 613712 (3) EDNRA 4 147480917 147544954 Y . Y N -0.333678613 27.54529143 0.986016088 10.8 DFP {Migraine, resistance to}, 157300 (3); Mandibulofacial dysostosis with alopecia, 616367 (3) EDNRB 13 77895481 77919768 Y . Y N 0.107389526 57.79938647 0.019361522 51.8 DM {Hirschsprung disease, susceptibility to, 2}, 600155 (3); ABCD syndrome, 600501 (3); Waardenburg syndrome, type 4A, 277580 (3) EEF1E1 6 8073360 8102578 Y . Y N -0.012004394 48.53851942 0.553269943 28.6 . . EEF2 19 3976056 3985469 Y . Y N -2.418013402 1.041847543 0.994520586 8.6 DM ?Spinocerebellar ataxia 26, 609306 (3) EFEMP2 11 65866441 65873592 Y . Y N -0.294095963 29.76211148 0.028388164 50 DM Cutis laxa, autosomal recessive, type IB, 614437 (3) EFNB1 X 68828997 68842147 Y . Y N -0.221132832 34.27099612 0.781251723 22.2 DM Craniofrontonasal dysplasia, 304110 (3) EFNB2 13 106489731 106535114 Y . Y N -0.589741923 17.07472362 0.938926865 15.6 . . EFNB3 17 7705202 7711378 N . Y N -0.476237287 21.18423337 0.456670731 31.2 . . EGFL7 9 136658856 136672678 Y . Y N 0.570668188 83.09312959 9.26E-13 95.3 . . EGFR 7 55019021 55256620 Y . Y N -1.77020638 2.280488511 0.99866453 6.3 DM Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, 211980 (3); Adenocarcinoma of lung, response to tyrosine kinase inhibitor in, 211980 (3); {Nonsmall cell lung cancer, susceptibility to}, 211980 (3); ?Inflammatory skin and bowel disease, neonatal, 2, 616069 (3) EGLN1 1 231363751 231425044 Y . Y N -0.144188409 39.10979915 0.925890294 16.3 DM Erythrocytosis, familial, 3, 609820 (3); [Hemoglobin, high altitude adaptation], 609070 (3) EGR1 5 138465490 138469315 N Subviable Y N -0.870080871 10.18116571 0.674344947 25.4 . . EGR2 10 62811996 62919900 Y . Y N -0.283874745 30.4277363 0.619543204 27 DM Neuropathy, congenital hypomyelinating, 1, 605253 (3); Charcot-Marie-Tooth disease, type 1D, 607678 (3); Dejerine-Sottas disease, 145900 (3) EGR3 8 22687659 22693302 Y . Y N -0.44718217 22.41129826 0.811097944 21.3 DP . EHBP1L1 11 65576038 65592650 Y . Y N 0.836775736 89.92301904 8.08E-07 82.9 . . EHD1 11 64851642 64888296 Y . Y N -0.920691275 9.214562713 0.894832022 18 . . EHMT1 9 137618963 137870016 Y . Y N -2.111698475 1.435434393 0.999999904 1.1 DM Kleefstra syndrome, 610253 (3) EHMT2 6 31879759 31897687 Y . Y N -0.788059657 11.7960294 0.064471471 45.6 DP . EI24 11 125569216 125584687 Y . Y N . . 0.965168319 13.5 FTV . EIF2AK3 2 88556741 88627576 Y . Y N -0.606208121 16.58274006 0.011423549 54.3 DM Wolcott-Rallison syndrome, 226980 (3) EIF2AK4 15 39934146 40035591 Y . Y N -0.112316628 41.297679 8.33E-10 91.2 . Pulmonary venoocclusive disease 2, 234810 (3) EIF2B2 14 75002911 75012366 Y . Y N -0.322346967 28.12409562 0.000428256 67.5 DM Leukoencephalopathy with vanishing white matter, 603896 (3); Ovarioleukodystrophy, 603896 (3) EIF2B3 1 44850522 44986722 N Lethal Y N 0.710509334 87.14475893 0.393440243 32.9 DM Leukoencephalopathy with vanishing white matter, 603896 (3) EIF2B4 2 27364352 27370486 N Lethal Y N -0.393549347 24.76703131 0.832609529 20.5 DM Leukoencephaly with vanishing white matter, 603896 (3); Ovarioleukodystrophy, 603896 (3) EIF2S1 14 67359997 67386516 Y . Y N 0.185945882 63.57006425 0.916802003 16.9 . . EIF2S2 20 34088298 34112332 Y . Y N -0.027010532 47.48509579 0.863603165 19.3 . . EIF3B 7 2354086 2380745 N . Y N -0.964755772 8.467905308 0.999970669 3 . . EIF3M 11 32583798 32606262 Y . Y N -0.212672702 34.75719164 0.981660594 11.5 . . EIF4E2 2 232550052 232583644 Y . Y N -0.117047237 40.96776061 0.91955878 16.7 . . EIF4G2 11 10797050 10809110 Y Lethal Y N -1.114829657 6.418938473 . . . . EIF6 20 35278907 35284985 Y . Y N 0.145710487 60.67604329 0.781942924 22.2 . . ELAVL1 19 7958579 8445041 Y . Y N -0.622627328 16.08496846 0.959986604 13.9 . . ELAVL3 19 11451326 11481046 Y . Y N -0.595330347 16.85477803 0.822602584 20.9 . . ELF3 1 202007945 202017188 Y Subviable Y N 0.0200728 51.09683394 0.986666748 10.7 . . ELF5 11 34478793 34513805 Y . Y N 0.115698365 58.41870695 0.019086514 51.9 . . ELK3 12 96194382 96269835 Y . Y N 0.139315016 60.15511952 0.101741246 43 . . ELL 19 18442663 18522127 Y . Y N -0.316453863 28.4945303 0.940941238 15.5 . . ELN 7 74027789 74069907 Y . Y N 0.176177485 62.93337964 1.52E-05 77 DM Supravalvar aortic stenosis, 185500 (3); Cutis laxa, AD, 123700 (3) ELOF1 19 11551147 11559236 N Lethal Y N -0.119918286 40.73045089 0.403135808 32.7 . . ELOVL1 1 43363397 43368074 Y . Y N -0.10763024 41.63338543 0.22341453 37.9 . . ELOVL4 6 79914812 79947580 Y . Y N -0.265193969 31.55061643 0.741051155 23.4 DM Stargardt disease 3, 600110 (3); Ichthyosis, spastic quadriplegia, and mental retardation, 614457 (3); ?Spinocerebellar ataxia 34, 133190 (3) EMG1 12 6970893 6979941 Y . Y N . . 0.010603896 54.7 DM Bowen-Conradi syndrome, 211180 (3) EMX2 10 117542444 117549546 Y . Y N -0.170525669 37.3618105 0.941755033 15.5 DM Schizencephaly, 269160 (3) EN1 2 118842171 118847678 Y . Y N -0.166697481 37.63384847 0.75193186 23.1 . . ENG 9 127815012 127854756 Y . Y N -0.281808799 30.56086126 0.989617028 10 DM Telangiectasia, hereditary hemorrhagic, type 1, 187300 (3) ENO1 1 8861002 8879249 Y . Y N -0.477040255 21.14950512 0.010373413 54.8 DP Enolase deficiency (1) ENPP2 8 119557086 119673453 Y . Y N -0.019858235 47.90762285 0.006828198 56.7 . . EOMES 3 27715949 27722711 Y Lethal Y N -0.622471401 16.11390866 0.711878381 24.3 DM . EP300 22 41091786 41180077 Y . Y N -3.734061441 0.318342305 1 0.3 DM Rubinstein-Taybi syndrome 2, 613684 (3); Colorectal cancer, somatic, 114500 (3) EP400 12 131949920 132081102 Y . Y N -1.822233101 2.129999421 1 0.4 . . EPAS1 2 46293667 46386703 Y Lethal Y N -0.235534697 33.33333333 0.997628293 7.2 DM Erythrocytosis, familial, 4, 611783 (3) EPB41 1 28887091 29120046 N Subviable Y N -0.289161662 30.12675812 0.062109871 45.8 DM Elliptocytosis-1, 611804 (3) EPB41L5 2 120013005 120179119 Y . Y N -0.094082712 42.53631996 0.022933841 51 . . EPC1 10 32267751 32378798 Y . Y N -1.513506522 3.270243677 0.999993177 2.3 . . EPC2 2 148644440 148787568 N Lethal Y N -0.778126027 12.06806737 0.99995236 3.2 DM . EPCAM 2 47345158 47387601 Y . Y N 0.649526336 85.59935174 7.50E-07 83 DM Diarrhea 5, with tufting enteropathy, congenital, 613217 (3); Colorectal cancer, hereditary nonpolyposis, type 8, 613244 (3) EPHA3 3 89107524 89482134 Y . Y N -1.185902514 5.718585403 0.015685962 52.9 DM . EPHB4 7 100802565 100827521 Y . Y N -0.585465207 17.21942467 0.989869332 10 . . EPO 7 100720800 100723700 Y . Y N 0.453338311 78.48584824 0.116862382 42.3 DFP {Microvascular complications of diabetes 2}, 612623 (3) EPOR 19 11377205 11384342 Y . Y N -0.031491274 47.21884586 0.058450672 46.1 DM [Erythrocytosis, familial, 1], 133100 (3) EPRS 1 219968601 220046658 N Lethal Y N -1.347053749 4.335243387 3.85E-07 84.1 . . ERBB2 17 39687914 39730426 Y . Y N -0.728847204 13.1909475 0.998894657 6 DP Adenocarcinoma of lung, somatic, 211980 (3); Glioblastoma, somatic, 137800 (3); Gastric cancer, somatic, 613659 (3); Ovarian cancer, somatic, (3) ERBB3 12 56079857 56103505 Y . Y N -1.044013138 7.292932801 4.36E-06 79.8 DM Lethal congenital contractural syndrome 2, 607598 (3) ERBB4 2 211375717 212538841 Y . Y N -2.596172478 0.891358453 0.999900654 3.8 DM Amyotrophic lateral sclerosis 19, 615515 (3) ERC1 12 990509 1495933 Y . Y N -0.865007113 10.27956242 0.004123883 58.9 DM . ERCC1 19 45407333 45478828 Y . Y N 0.042581773 52.76957805 0.000286883 68.8 DM Cerebrooculofacioskeletal syndrome 4, 610758 (3) ERCC2 19 45349837 45370918 Y . Y N -0.722438718 13.35301268 3.14E-13 95.7 DM Xeroderma pigmentosum, group D, 278730 (3); Trichothiodystrophy 1, photosensitive, 601675 (3); Cerebrooculofacioskeletal syndrome 2, 610756 (3) ERCC3 2 127257290 127294176 Y Lethal Y N -1.481576452 3.461249059 2.06E-05 76.2 DM Xeroderma pigmentosum, group B, 610651 (3); Trichothiodystrophy 2, photosensitive, 616390 (3) ERCC4 16 13920157 13952345 Y . Y N -0.386555059 25.11431383 3.33E-10 92.1 DM Xeroderma pigmentosum, group F, 278760 (3); ?XFE progeroid syndrome, 610965 (3); Fanconi anemia, complementation group Q, 615272 (3); Xeroderma pigmentosum, type F/Cockayne syndrome, 278760 (3) ERCC5 13 102844844 102876001 Y . Y N 1.533067031 97.12334317 4.65E-06 79.7 DM Xeroderma pigmentosum, group G, 278780 (3); Xeroderma pigmentosum, group G/Cockayne syndrome, 278780 (3); Cerebrooculofacioskeletal syndrome 3, 616570 (3) ERF 19 42247572 42255157 Y . Y N -0.83623939 10.85836661 0.807144401 21.4 DM Craniosynostosis 4, 600775 (3) ERG 21 38380027 38661780 Y . Y N -0.441438866 22.67176014 0.968344474 13.2 . . ERI1 8 9002147 9116746 Y . Y N -0.699418178 13.92602882 0.000454685 67.3 . . ERN1 17 64039142 64130819 Y . Y N 0.265256787 68.39150315 0.913613982 17.1 . . ERP44 9 99979179 100099040 N . Y N -0.423715548 23.3836893 0.956751213 14.2 . . ERRFI1 1 8004404 8026308 Y . Y N -0.166544931 37.66857672 0.046551582 47.4 . . ERVFRD-1 6 11102489 11111732 Y . Y N . . 0.002428346 61.2 . . ESCO2 8 27771949 27812640 Y . Y N 0.594283197 83.96133588 0.178963923 39.4 DM Roberts syndrome, 268300 (3); SC phocomelia syndrome, 269000 (3) ESPL1 12 53268299 53293643 Y . Y N 0.192764047 63.99259131 0.999999918 1.1 . . ESRRB 14 76310614 76501841 Y . Y N 0.014483413 50.59906234 0.542080991 28.8 DM Deafness, autosomal recessive 35, 608565 (3) ESRRG 1 216503246 217137755 Y . Y N -0.928349113 9.075649708 0.93661121 15.8 DFP . ETHE1 19 43506719 43527244 N Subviable Y N -0.198623704 35.57909359 0.016175186 52.8 DM Ethylmalonic encephalopathy, 602473 (3) ETS1 11 128458761 128587558 Y . Y N -0.364494105 26.16194941 0.795176656 21.8 DP . ETS2 21 38805307 38824955 Y . Y N 0.142034241 60.34033686 0.99335013 9 . . ETV2 19 35641745 35644871 Y . Y N 0.528370887 81.58245066 0.032896798 49.2 . . ETV5 3 186046308 186110318 Y . Y N 0.060458083 54.14713203 0.999892476 3.8 DP . ETV6 12 11649854 11895402 Y . Y N -0.659987499 15.04312091 0.99522782 8.3 . Leukemia, acute myeloid, somatic, 601626 (3); Thrombocytopenia 5, 616216 (3) EVC 4 5711197 5814305 Y . Y N 1.574250559 97.34907681 8.01E-08 86.4 DM Ellis-van Creveld syndrome, 225500 (3); Weyers acrodental dysostosis, 193530 (3) EVC2 4 5542772 5709548 Y . Y N 0.883278753 90.79701337 1.05E-21 99 DM Ellis-van Creveld syndrome, 225500 (3); Weyers acrofacial dysostosis, 193530 (3) EVX1 7 27242700 27250493 Y . Y N -0.619754707 16.18336517 2.93E-05 75.2 . . EWSR1 22 29268009 29300525 Y Lethal Y N -1.267777996 4.948775829 0.998559249 6.4 DM? Ewing sarcoma, 612219 (3); Neuroepithelioma, 612219 (3) EXOC3L2 19 45212621 45234211 N Lethal Y N 0.663576603 86.05081901 0.925564032 16.3 . . EXOC4 7 133253073 134066589 Y . Y N -0.911940234 9.359263761 0.000726958 65.8 DM . EXOC6 10 92834713 93059493 Y . Y N 0.31953887 71.74856746 0.028160635 50 . . EXOC8 1 231332753 231337852 N Lethal Y N -0.956295474 8.629970481 0.987113069 10.6 DM . EXOSC3 9 37766978 37801437 N Subviable Y N 0.488132675 80.00231522 0.701888823 24.6 DM Pontocerebellar hypoplasia, type 1B, 614678 (3) EXOSC8 13 36998816 37009613 N Lethal Y N -0.257690928 32.05996411 1.76E-05 76.6 . Pontocerebellar hypoplasia, type 1C, 616081 (3) EXOSC9 4 121801317 121817021 N Lethal Y N 0.068917845 54.82433293 1.87E-06 81.4 . . EXT1 8 117794490 118111853 Y . Y N -1.493861919 3.414944724 0.999320485 5.5 DM Exostoses, multiple, type 1, 133700 (3); Chondrosarcoma, 215300 (3) EXT2 11 44095549 44245429 Y . Y N 0.454747823 78.52636453 2.46E-07 84.8 DM Exostoses, multiple, type 2, 133701 (3) EXTL3 8 28600469 28755599 Y . Y N -2.003121228 1.643803901 0.061280486 45.9 DM? . EYA1 8 71197433 71362232 Y . Y N -0.37375886 25.73363431 0.95570457 14.3 DM Branchiootorenal syndrome 1, with or without cataracts, 113650 (3); Anterior segment anomalies with or without cataract, 113650 (3); Branchiootic syndrome 1, 602588 (3); ?Otofaciocervical syndrome, 166780 (3) EYA4 6 133240598 133532120 Y Lethal Y N -0.115786048 41.08352144 0.126429149 41.7 DM Deafness, autosomal dominant 10, 601316 (3); Cardiomyopathy, dilated, 1J, 605362 (3) EZH2 7 148807383 148884321 Y . Y N -0.80542189 11.43717081 0.999990079 2.5 DM Weaver syndrome, 277590 (3) EZR 6 158765741 158819412 Y . Y N -1.096952708 6.615731898 0.98811019 10.4 . . F10 13 113122814 113149529 Y Lethal Y N -0.253710318 32.23939341 0.160510707 40.2 DM Factor X deficiency, 227600 (3) F11R 1 160995211 161021348 Y . Y N -0.2707828 31.23227412 5.54E-05 73.6 . . F2 11 46719180 46739506 Y Subviable Y N -0.91318776 9.330323552 0.959943188 13.9 DM Hypoprothrombinemia, 613679 (3); Dysprothrombinemia, 613679 (3); Thrombophilia due to thrombin defect, 188050 (3); {Stroke, ischemic, susceptibility to}, 601367 (3); {Pregnancy loss, recurrent, susceptibility to, 2}, 614390 (3) F2R 5 76716043 76735781 Y . Y N -0.208844572 35.00607744 0.041238488 48.1 DP . F3 1 94529225 94541800 Y . Y N 0.203821715 64.60033571 0.132021361 41.5 DFP . F5 1 169514166 169586588 Y . Y N 0.712976121 87.22579151 4.69E-08 87.1 DM Factor V deficiency, 227400 (3); {Thrombophilia, susceptibility to, due to factor V Leiden}, 188055 (3); {Stroke, ischemic, susceptibility to}, 601367 (3); {Budd-Chiari syndrome}, 600880 (3); Thrombophilia due to activated protein C resistance, 188055 (3); {Pregnancy loss, recurrent, susceptibility to, 1}, 614389 (3) F7 13 113105788 113120681 Y Subviable Y N 0.404791194 76.08381085 1.33E-05 77.3 DM Factor VII deficiency, 227500 (3); {Myocardial infarction, decreased susceptibility to}, 608446 (3) F9 X 139530758 139563458 Y . Y N 0.621278951 84.78323783 0.989580625 10 DM Hemophilia B, 306900 (3); {Warfarin sensitivity}, 122700 (3); Thrombophilia, X-linked, due to factor IX defect, 300807 (3); {Deep venous thrombosis, protection against}, 300807 (3) FADD 11 70203163 70207390 Y Lethal Y N -0.290574674 29.99363315 0.665952895 25.6 DM Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovasuclar malformations, 613759 (3) FAF1 1 50437028 50960263 Y . Y N -0.848527708 10.5805406 0.997397842 7.3 . . FAH 15 80152490 80186946 Y . Y N -0.293139081 29.82577994 2.81E-11 93.7 DM Tyrosinemia, type I, 276700 (3) FAM13B 5 137937960 138051961 N Subviable Y N -1.03214183 7.44342189 0.900071909 17.8 . . FAM208A 3 56620133 56683237 N . Y N -0.826533306 11.01464375 0.999672316 4.7 . . FAM20B 1 179025804 179076562 Y . Y N -0.65344145 15.2630665 0.28581378 36.1 . . FAM20C 7 192969 260745 Y Lethal Y N . . 0.587993382 27.8 DM Raine syndrome, 259775 (3) FAM210A 18 13663347 13726663 N Lethal Y N -0.014723262 48.28963362 0.015124303 53.1 . . FAM212A 3 49803254 49805030 Y . Y N 0.167262974 62.32563524 0.000589161 66.5 . . FAM46C 1 117605934 117628372 N Lethal Y N -0.040907923 46.57058517 0.523539098 29.3 FTV . FAM49B 8 129839593 130017129 N Subviable Y N -0.15647662 38.26474504 0.996856902 7.6 . . FANCD2 3 10026414 10101930 Y . Y N -0.837456446 10.80627424 2.48E-14 96.5 DM Fanconi anemia, complementation group D2, 227646 (3) FARSA 19 12922479 12934037 Y . Y N -0.33815726 27.34270996 0.004050721 59 . . FASN 17 82078338 82098332 Y . Y N -1.948069535 1.776928865 0.99999995 1 DM . FAT1 4 186587783 186726722 Y . Y N 0.709023254 87.09266655 1.78E-10 92.6 DM . FAT4 4 125316399 125492932 Y . Y N -5.670089154 0.063668461 0.999999998 0.7 . Van Maldergem syndrome 2, 615546 (3); Hennekam lymphangiectasia-lymphedema syndrome 2, 616006 (3) FBL 19 39834458 39846414 Y . Y N -0.544722892 18.39439718 0.984496356 11 . . FBLN1 22 45502238 45601135 Y . Y N -0.489834226 20.61121723 0.852457933 19.8 DM Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses, 608180 (4) FBN1 15 48408306 48645849 Y . Y N -3.82233761 0.277826011 1 0.1 DM Marfan syndrome, 154700 (3); Ectopia lentis, familial, 129600 (3); MASS syndrome, 604308 (3); Weill-Marchesani syndrome 2, dominant, 608328 (3); Aortic aneurysm, ascending, and dissection (3); Stiff skin syndrome, 184900 (3); Acromicric dysplasia, 102370 (3); Geleophysic dysplasia 2, 614185 (3) FBP2 9 94558720 94593793 N Subviable Y N 0.780909061 88.81750304 0.001393124 63.4 . . FBXL16 16 692498 705829 N Subviable Y N -0.678823093 14.52219714 0.951557375 14.6 . . FBXL20 17 39252644 39402523 Y . Y N -0.159194457 38.09110378 0.998874815 6 . . FBXL5 4 15604539 15681679 Y . Y N -0.718099444 13.46298547 0.977580082 12.1 . . FBXO11 2 47789316 47905793 Y . Y N -1.407637214 3.895352202 0.999979628 2.8 . . FBXO16 8 28348287 28490318 N Lethal Y N 0.192642013 63.98680326 6.62E-07 83.2 . . FBXO45 3 196568611 196589059 Y . Y N -0.074899744 44.03542282 0.857972569 19.6 . . FBXO5 6 152970519 152983579 Y . Y N 0.321150679 71.84696417 0.982078347 11.4 . . FBXW7 4 152321259 152536101 Y . Y N -0.278133044 30.72292643 0.999977859 2.9 DM . FBXW8 12 116910956 117031148 Y Subviable Y N 0.865511723 90.44973086 8.69E-13 95.3 . . FCER1G 1 161215234 161220699 N Subviable Y N 0.183076334 63.39063495 0.635845638 26.5 . . FDFT1 8 11795573 11839309 Y . Y N -0.186032247 36.40099554 . . FP . FDX1 11 110429883 110464881 N Lethal Y N 0.282530296 69.45650287 0.083981628 44.2 . . FECH 18 57548283 57586772 Y . Y N 0.171089591 62.59767321 0.138946553 41.1 DM Protoporphyria, erythropoietic, autosomal recessive, 177000 (3) FEN1 11 61792637 61797244 Y . Y N -0.693829603 14.14018637 3.48E-05 74.8 DFP . FERMT1 20 6074845 6123544 Y . Y N -0.522864344 19.3089078 7.57E-07 83 DM . FERMT2 14 52857268 52952435 Y . Y N -0.422604684 23.42999363 0.9998272 4.2 . . FERMT3 11 64206678 64223886 Y . Y N 0.920907967 91.51473057 0.257005091 36.9 DM Leukocyte adhesion deficiency, type III, 612840 (3) FES 15 90883695 90895776 Y . Y N -1.281684692 4.833014991 2.77E-05 75.4 . . FEV 2 218981087 218985657 Y . Y N . . . . DP . FEZF1 7 122301394 122310691 Y . Y N -0.291377772 29.93575273 0.29817219 35.8 . Hypogonadotropic hypogonadism with or without anosmia, 616030 (3) FGD5 3 14818962 14934565 N . Y N -0.593643566 16.89529432 0.994386979 8.7 . . FGF10 5 44303544 44389706 Y Lethal Y N -0.003544497 49.14626382 0.858814552 19.6 DM Aplasia of lacrimal and salivary glands, 180920 (3); LADD syndrome, 149730 (3) FGF16 X 77447405 77457278 Y . Y N . . . . DM Metacarpal 4-5 fusion, 309630 (3) FGF18 5 171419656 171457623 Y . Y N -0.117047237 40.96776061 0.175827312 39.5 . . FGF19 11 69698232 69704642 Y . Y N 0.139014096 60.0972391 0.294076907 35.9 . . FGF3 11 69810224 69819024 Y Subviable Y N . . 0.033037217 49.2 DM Deafness, congenital with inner ear agenesis, microtia, and microdontia, 610706 (3) FGF4 11 69771016 69775403 Y . Y N . . 0.750215678 23.2 . . FGF8 10 101770130 101780369 Y Lethal Y N -0.093581117 42.57683626 0.927194849 16.3 DM Hypogonadotropic hypogonadism 6 with or without anosmia, 612702 (3) FGF9 13 21671383 21704498 Y Lethal Y N -0.08703502 43.03409157 0.91071591 17.2 DM ?Multiple synostoses syndrome 3, 612961 (3) FGFR1 8 38411138 38468834 Y Lethal Y N -1.586641329 2.882444869 0.988744285 10.2 DM Pfeiffer syndrome, 101600 (3); Jackson-Weiss syndrome, 123150 (3); Hypogonadotropic hypogonadism 2 with or without anosmia, 147950 (3); Osteoglophonic dysplasia, 166250 (3); Trigonocephaly 1, 190440 (3); Hartsfield syndrome, 615465 (3) FGFR1OP 6 166999182 167052713 N Lethal Y N 0.57353725 83.21467847 0.71081771 24.3 . Myeloproliferative disorder (2) FGFR2 10 121478334 121598458 Y . Y N -1.019046351 7.651791399 0.999752493 4.5 DM Crouzon syndrome, 123500 (3); Jackson-Weiss syndrome, 123150 (3); Beare-Stevenson cutis gyrata syndrome, 123790 (3); Pfeiffer syndrome, 101600 (3); Apert syndrome, 101200 (3); Saethre-Chotzen syndrome, 101400 (3); Craniosynostosis, nonspecific (3); Gastric cancer, somatic, 613659 (3); Craniofacial-skeletal-dermatologic dysplasia, 101600 (3); Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, 207410 (3); Scaphocephaly and Axenfeld-Rieger anomaly (3); LADD syndrome, 149730 (3); Scaphocephaly, maxillary retrusion, and mental retardation, 609579 (3); Bent bone dysplasia syndrome, 614592 (3) FGFR3 4 1793307 1808872 Y . Y N -0.644536759 15.54089252 0.002909122 60.5 DM Achondroplasia, 100800 (3); Hypochondroplasia, 146000 (3); Thanatophoric dysplasia, type I, 187600 (3); Crouzon syndrome with acanthosis nigricans, 612247 (3); Muenke syndrome, 602849 (3); Bladder cancer, somatic, 109800 (3); Colorectal cancer, somatic, 114500 (3); Cervical cancer, somatic, 603956 (3); LADD syndrome, 149730 (3); CATSHL syndrome, 610474 (3); Nevus, epidermal, somatic, 162900 (3); Thanatophoric dysplasia, type II, 187601 (3); Spermatocytic seminoma, somatic, 273300 (3); SADDAN, 616482 (3) FGFRL1 4 1009936 1026897 Y . Y N 0.143142267 60.43873358 0.582186675 27.9 DM . FGG 4 154604134 154612967 Y . Y N 0.1035625 57.4868322 0.07929442 44.5 DM Dysfibrinogenemia, congenital, 616004 (3); Hypofibrinogenemia, congenital, 202400 (3); Afibrinogenemia, congenital, 202400 (3); Hypodysfibrinogenemia, 616004 (3) FGL2 7 77193371 77199826 Y . Y N -0.382371374 25.31110725 0.094997676 43.5 . . FH 1 241497603 241519761 Y . Y N -0.563403124 17.82716907 0.148694445 40.7 DM Hypercholesterolemia, familial, 143890 (3); LDL cholesterol level QTL2, 143890 (3) FHOD3 18 36297714 36780055 Y . Y N -0.723940186 13.28934421 0.997517123 7.3 DP . FIGN 2 163593396 163736012 Y . Y N -1.215103379 5.440759391 0.741736098 23.4 . . FKBP1A 20 1368978 1393172 Y . Y N 0.20367293 64.5713955 0.678638213 25.2 . . FKBP4 12 2794953 2805423 Y . Y N 0.211474757 65.18492794 0.927473131 16.3 . . FKBP5 6 35573585 35728583 N Subviable Y N 0.028532581 51.68721422 0.498849477 30 DFP {Major depressive disorder and accelerated response to antidepressant drug treatment}, 608516 (3) FKBP8 19 18531751 18544077 Y . Y N -0.478954353 21.04532037 0.978738099 12 . . FKRP 19 46746046 46776988 Y . Y N . . 0.0003828 67.9 DM Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, 613153 (3); Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5, 606612 (3); Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5, 607155 (3) FKTN 9 105558130 105641118 Y . Y N 0.029489373 51.73930659 0.000192375 69.9 DM Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, 253800 (3); Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4, 613152 (3); Cardiomyopathy, dilated, 1X, 611615 (3); Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4, 611588 (3) FLCN 17 17212212 17237188 Y . Y N -0.102542454 41.95751577 0.958489798 14.1 DM Birt-Hogg-Dube syndrome, 135150 (3); Pneumothorax, primary spontaneous, 173600 (3); Renal carcinoma, chromophobe, somatic, 144700 (3); Colorectal cancer, somatic, 114500 (3) FLG 1 152302175 152325203 Y . Y N 31.44697308 99.99421196 . . DM Ichthyosis vulgaris, 146700 (3); {Dermatitis, atopic, susceptibility to, 2}, 605803 (3) FLI1 11 128686535 128813267 Y . Y N -0.046497232 46.10754182 0.819814084 21 . . FLII 17 18244836 18258916 Y Lethal Y N -0.883435742 9.891763616 3.31E-06 80.4 . . FLNA X 154348524 154374638 Y . Y N -1.467685145 3.519129478 0.999999988 0.8 DM Heterotopia, periventricular, 300049 (3); Otopalatodigital syndrome, type I, 311300 (3); Otopalatodigital syndrome, type II, 304120 (3); Intestinal pseudoobstruction, neuronal, 300048 (3); Melnick-Needles syndrome, 309350 (3); Frontometaphyseal dysplasia, 305620 (3); Heterotopia, periventricular, ED variant, 300537 (3); FG syndrome 2, 300321 (3); Cardiac valvular dysplasia, X-linked, 314400 (3); Terminal osseous dysplasia, 300244 (3); Congenital short bowel syndrome, 300048 (3) FLNB 3 58008400 58172251 Y Lethal Y N -0.126306434 40.31949991 0.00243124 61.2 DM Spondylocarpotarsal synostosis syndrome, 272460 (3); Larsen syndrome, 150250 (3); Atelosteogenesis, type I, 108720 (3); Atelosteogenesis, type III, 108721 (3); Boomerang dysplasia, 112310 (3) FLNC 7 128830377 128859274 Y . Y N -3.242030113 0.48619552 0.999503525 5.2 DM Myopathy, myofibrillar, 5, 609524 (3); Myopathy, distal, 4, 614065 (3) FLRT2 14 85530144 85654426 Y . Y N -0.332416646 27.63211206 0.894038334 18 . . FLRT3 20 14322988 14337616 Y . Y N -0.400095467 24.4197488 0.988394618 10.3 DM? Hypogonadotropic hypogonadism 21 with anosmia, 615271 (3) FLT1 13 28300344 28495128 Y . Y N -1.662385637 2.598830816 0.997806027 7.1 DM . FLT4 5 180601506 180649624 Y . Y N -0.694878431 14.09967008 0.999936679 3.4 DM Lymphedema, hereditary, IA, 153100 (3); Hemangioma, capillary infantile, somatic, 602089 (3) FLVCR1 1 212858255 212899363 Y . Y N -0.023988294 47.67610117 0.000373086 68 DM Ataxia, posterior column, with retinitis pigmentosa, 609033 (3) FMN1 15 32765545 33194733 Y . Y N 0.573363538 83.19731435 1.73E-13 95.9 DM . FN1 2 215360440 215436172 Y . Y N -1.332408626 4.468368351 0.064441538 45.6 DM Glomerulopathy with fibronectin deposits 2, 601894 (3); Plasma fibronectin deficiency, 614101 (1) FNDC3B 3 172039628 172401665 Y . Y N -1.058197818 7.10771546 0.999999985 0.8 . . FNTB 14 64986720 65062652 Y Lethal Y N -0.425475634 23.3142328 0.172001039 39.7 . . FOLR1 11 72189558 72196301 Y . Y N 0.279809186 69.29443769 0.007410675 56.3 DM Neurodegeneration due to cerebral folate transport deficiency, 613068 (3) FOS 14 75278774 75282230 Y . Y N 0.353076131 73.59495283 0.435710741 31.8 DM? . FOSL1 11 65892049 65900573 Y . Y N -0.008177066 48.7989813 0.289796027 36 . . FOSL2 2 28392448 28417312 Y . Y N -0.346770353 26.9201829 0.925334262 16.4 . . FOXA1 14 37589984 37596059 Y . Y N -0.040907923 46.57058517 . . DM? . FOXA2 20 22581005 22585455 Y . Y N -0.266954701 31.4637958 . . DM . FOXB1 15 60004222 60061730 Y . Y N -0.354273411 26.59605256 0.702812388 24.5 . . FOXC1 6 1609972 1613897 Y . Y N . . . . DM Iridogoniodysgenesis, type 1, 601631 (3); Rieger or Axenfeld anomalies, 602482 (3); Axenfeld-Rieger syndrome, type 3, 602482 (3); Iris hypoplasia and glaucoma, 601631 (3) FOXC2 16 86567251 86569728 Y . Y N -0.137489868 39.60757076 . . DM Lymphedema-distichiasis syndrome, 153400 (3); Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus, 153400 (3) FOXD1 5 73444827 73448362 Y . Y N . . . . DM . FOXD3 1 63323041 63325126 Y . Y N . . . . DM? {Autoimmune disease, susceptibility to, 1}, 607836 (3) FOXE1 9 97853254 97856715 Y . Y N . . . . DM Bamforth-Lazarus syndrome, 241850 (3); {Thyroid cancer, nonmedullary, 4}, 616534 (3) FOXF1 16 86510527 86515418 Y . Y N -0.181703531 36.63251722 0.909443997 17.3 DM Alveolar capillary dysplasia with misalignment of pulmonary veins, 265380 (3) FOXF2 6 1389834 1395597 Y . Y N -0.106673287 41.69126584 . . DM? . FOXG1 14 28765388 28770277 Y . Y N -0.191120662 36.08265324 . . DM Rett syndrome, congenital variant, 613454 (3) FOXH1 8 144473412 144476335 Y . Y N -0.380457228 25.42686809 0.013291196 53.7 DM . FOXI1 5 170105897 170109725 Y . Y N -0.221936642 34.22469179 0.109581473 42.6 DM Enlarged vestibular aqueduct, 600791 (3) FOXI3 2 88446787 88452656 Y . Y N . . . . . . FOXJ1 17 76136333 76141299 Y . Y N 0.620322894 84.75429762 0.826867383 20.7 . . FOXJ3 1 42176539 42335877 N Lethal Y N -0.4732126 21.32314638 0.977575009 12.1 . . FOXL1 16 86576368 86582160 Y . Y N 0.410231756 76.34427273 0.063930237 45.6 DM? . FOXL2 3 138944224 138947140 Y . Y N . . . . DM Blepharophimosis, epicanthus inversus, and ptosis, type 1, 110100 (3); Blepharophimosis, epicanthus inversus, and ptosis, type 2, 110100 (3); Premature ovarian failure 3, 608996 (3) FOXM1 12 2857681 2877155 Y . Y N 0.68175786 86.47334607 0.802589769 21.6 . . FOXN1 17 28506243 28538896 Y . Y N 0.444373045 78.07489726 0.969497552 13.1 DM T-cell immunodeficiency, congenital alopecia, and nail dystrophy, 601705 (3) FOXN4 12 109277979 109309220 Y . Y N 0.435610474 77.68131041 0.13306055 41.4 . . FOXO1 13 40555667 40666597 Y . Y N -0.637477822 15.74347398 0.966380394 13.4 . . FOXP1 3 70954693 71583989 Y . Y N -1.287420596 4.786710656 0.999750735 4.5 DM Mental retardation with language impairment and with or without autistic features, 613670 (3) FOXP2 7 114086327 114693772 Y . Y N -1.078267447 6.824101406 0.996178831 7.9 DM Speech-language disorder-1, 602081 (3) FOXP3 X 49250436 49264826 Y . Y N 0.352927885 73.57180066 0.948721768 14.9 DM Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790 (3); {Diabetes mellitus, type I, susceptibility to}, 222100 (3) FOXP4 6 41546426 41602384 Y . Y N -0.683302052 14.43537651 0.671770825 25.5 . . FOXQ1 6 1312473 1314187 Y . Y N . . . . . . FRAS1 4 78057570 78544269 Y . Y N 2.441564448 99.1433698 2.29E-23 99.2 DM Fraser syndrome, 219000 (3) FREM1 9 14734666 14910995 Y . Y N -0.361864432 26.24877004 . . DM Bifid nose with or without anorectal and renal anomalies, 608980 (3); Manitoba oculotrichoanal syndrome, 248450 (3); Trigonocephaly 2, 614485 (3) FREM2 13 38687129 38887131 Y . Y N -0.046975685 46.05544944 1.25E-07 85.9 DM Fraser syndrome, 219000 (3) FRRS1 1 99708703 99766631 Y . Y N -0.06039484 45.06569428 5.50E-08 86.8 . . FRRS1L 9 109130293 109167291 N Subviable Y N 0.127834418 59.29270128 0.00842828 55.6 . . FRS2 12 69470349 69579789 Y Lethal Y N -0.660944682 15.00260462 0.979070203 11.9 . . FRYL 4 48497361 48780322 Y . Y N -2.28321738 1.151820339 0.999999993 0.8 . . FSHR 2 48962157 49154537 Y . Y N -1.322073021 4.537824854 3.75E-10 92 DM Ovarian dysgenesis 1, 233300 (3); Ovarian response to FSH stimulation, 276400 (3); Ovarian hyperstimulation syndrome, 608115 (3) FST 5 53480409 53487134 Y . Y N -0.145145404 39.04034265 0.963797332 13.6 . . FTH1 11 61959718 61967660 Y . Y N -0.193034849 35.95531632 0.918437495 16.8 DM ?Hemochromatosis, type 5, 615517 (3) FTO 16 53703963 54121941 Y . Y N 0.539847451 82.05707009 0.011344576 54.4 DM Growth retardation, developmental delay, coarse facies, and early death, 612938 (3) FURIN 15 90868592 90883458 Y Lethal Y N -0.561188399 17.88504949 0.999933301 3.4 DFP . FUS 16 31180110 31194871 Y Lethal Y N -0.794089755 11.68026857 0.999963786 3.1 DM Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia, 608030 (3); Tremor, hereditary essential, 4, 614782 (3) FUT8 14 65410592 65744121 Y . Y N -0.538022286 18.68379927 0.99756611 7.2 DP . FUZ 19 49806869 49817376 Y . Y N 0.373672448 74.62522429 0.002088164 61.7 DM Neural tube defects, 182940 (3) FXN 9 69035259 69100178 Y . Y N 0.23846774 66.7534873 0.817753773 21.1 DM Friedreich ataxia, 229300 (3); Friedreich ataxia with retained reflexes, 229300 (3) FXR1 3 180868141 180982753 Y . Y N -0.887959387 9.828095155 0.999992198 2.4 . . FYN 6 111660332 111873452 Y . Y N -0.685368969 14.36592001 0.99563571 8.1 . . FZD2 17 44557459 44559570 Y . Y N -0.372954173 25.73942235 . . . . FZD3 8 28494205 28574268 Y Subviable Y N -0.939526518 8.861492157 0.275435382 36.3 DM? . FZD4 11 86945679 86955391 N Subviable Y N -0.551114598 18.16866354 0.920786851 16.7 DM Exudative vitreoretinopathy 1, 133780 (3); Retinopathy of prematurity, 133780 (3) FZD5 2 207762586 207769563 Y . Y N -0.555899965 18.03553858 0.898345426 17.8 . . FZR1 19 3506273 3538330 Y . Y N -0.875824863 10.04225271 0.997947525 7 . . G2E3 14 30559123 30620063 Y . Y N -0.385089341 25.1664062 0.751141211 23.1 . . G3BP1 5 151771045 151812785 Y . Y N -0.784826669 11.8365457 0.988390764 10.3 . . G3BP2 4 75642782 75724525 Y . Y N -0.581281335 17.35833767 0.983145417 11.2 . . G6PD X 154531391 154547572 Y . Y N 1.188019818 94.94703942 0.966391447 13.4 DM Hemolytic anemia due to G6PD deficiency, 300908 (3); Favism, 134700 (3); {Resistance to malaria due to G6PD deficiency}, 611162 (3) GAB1 4 143336762 143474568 Y . Y N -0.550157681 18.20339179 0.686084015 25 DM? . GABARAPL2 16 75566351 75577881 N Lethal Y N 0.107088402 57.71835388 0.000743181 65.7 . . GABBR1 6 29555629 29633976 Y . Y N -0.963799063 8.496845517 0.999969901 3 DP . GABPA 21 25734570 25772460 Y . Y N -0.6282154 15.9113272 0.973789161 12.5 . . GABPB1 15 50275392 50355408 Y . Y N -0.236138921 33.29860508 0.92988831 16.1 . . GABRA1 5 161847191 161899969 Y . Y N -0.468734171 21.47363547 0.963866035 13.6 DM {Epilepsy, juvenile myoclonic, susceptibility to, 5}, 611136 (3); {Epilepsy, childhood absence, susceptibility to, 4}, 611136 (3); Epileptic encephalopathy, early infantile, 19, 615744 (3) GABRA2 4 46248427 46475230 Y . Y N 0.143797178 60.51397812 0.976963701 12.2 . {Alcohol dependence, susceptibility to}, 103780 (3) GABRB3 15 26543546 26939539 Y . Y N -0.567232387 17.72298431 0.99707396 7.5 DM {Epilepsy, childhood absence, susceptibility to, 5}, 612269 (3) GABRD 1 2019324 2030751 Y . Y N -0.42451861 23.36632517 0.923498878 16.5 DFP {Epilepsy, generalized, with febrile seizures plus, type 5, susceptibility to}, 613060 (3); {Epilepsy, idiopathic generalized, 10}, 613060 (3); {Epilepsy, juvenile myoclonic, susceptibility to}, 613060 (3) GABRG2 5 162067540 162155536 Y . Y N -0.793287548 11.69763269 0.958543398 14.1 DM Epilepsy, generalized, with febrile seizures plus, type 3, 611277 (3); {Epilepsy, childhood absence, susceptibility to, 2}, 607681 (3); Febrile seizures, familial, 8, 611277 (3) GAD1 2 170813213 170861151 Y . Y N -0.543611442 18.44070151 0.822540153 20.9 DM ?Cerebral palsy, spastic quadriplegic, 1, 603513 (3) GADD45GIP1 19 12953119 12957236 Y . Y N 0.93083486 91.73467616 0.000318097 68.5 . . GAK 4 849276 932373 Y . Y N -0.540847573 18.53909822 0.973134951 12.6 DM? . GALNT1 18 35581117 35711834 Y . Y N -0.746352589 12.73369219 0.74296896 23.4 . . GAMT 19 1397084 1401570 Y . Y N 0.448703989 78.31799502 2.65E-05 75.5 DM Cerebral creatine deficiency syndrome 2, 612736 (3) GAP43 3 115623324 115721490 Y . Y N -0.249230788 32.49406726 0.012379922 54.1 DM . GAPDH 12 6533927 6538374 Y . Y N -0.534347745 18.81113619 0.180460004 39.3 . . GARS 7 30594681 30634033 Y . Y N -0.229287694 33.77322452 0.78892721 22 DM Charcot-Marie-Tooth disease, type 2D, 601472 (3); Neuropathy, distal hereditary motor, type VA, 600794 (3) GART 21 33503931 33543491 N Lethal Y N 0.081508896 55.82566418 0.063056134 45.7 . . GAS1 9 86944363 86947189 Y . Y N . . 0.616849185 27 DM . GATA1 X 48786554 48794311 Y . Y N 0.455250847 78.5495167 0.837375784 20.4 DM Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367 (3); Leukemia, megakaryoblastic, with or without Down syndrome, somatic, 190685 (3); Thrombocytopenia with beta-thalassemia, X-linked, 314050 (3); Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, 300835 (3) GATA2 3 128479427 128493185 Y . Y N -0.266954701 31.4637958 0.97976209 11.8 DM Immunodeficiency 21, 614172 (3); Emberger syndrome, 614038 (3); {Myelodysplastic syndrome, susceptibility to}, 614286 (3); {Leukemia, acute myeloid, susceptibility to}, 601626 (3) GATA3 10 8053604 8075198 Y . Y N -0.548396811 18.26127221 0.882718841 18.5 DM Hypoparathyroidism, sensorineural deafness, and renal dysplasia, 146255 (3) GATA4 8 11676959 11760002 Y . Y N 0.312691067 71.2565839 0.802155487 21.6 DM Atrial septal defect 2, 607941 (3); Ventricular septal defect 1, 614429 (3); Atrioventricular septal defect 4, 614430 (3); ?Testicular anomalies with or without congenital heart disease, 615542 (3); Tetralogy of Fallot, 187500 (3) GATA6 18 22169443 22202528 Y . Y N -0.224807605 34.0336864 . . DM Atrioventricular septal defect 5, 614474 (3); Atrial septal defect 9, 614475 (3); Pancreatic agenesis and congenital heart defects, 600001 (3); Persistent truncus arteriosus, 217095 (3); Tetralogy of Fallot, 187500 (3) GATAD2A 19 19385826 19508931 Y . Y N -1.283596185 4.821438907 0.995362828 8.3 . . GATC 12 120446438 120463749 Y . Y N 0.034927599 52.21971407 7.79E-05 72.6 . . GBA 1 155234452 155244699 Y . Y N -0.565164014 17.77507669 0.03404054 49 DM Gaucher disease, type I, 230800(3); Gaucher disease, type II, 230900 (3); Gaucher disease, type III, 231000 (3); Gaucher disease, type IIIC, 231005 (3); Gaucher disease, perinatal lethal, 608013 (3); {Parkinson disease, late-onset, susceptibility to}, 168600 (3); {Lewy body dementia, susceptibility to}, 127750 (3) GBE1 3 81489699 81762161 Y . Y N 0.443415907 78.04016901 1.18E-13 96 DM Glycogen storage disease IV, 232500 (3); Polyglucosan body disease, adult form, 263570 (3) GBF1 10 102245532 102382899 Y . Y N -2.748013857 0.764021532 4.12E-07 84 . . GBGT1 9 133152948 133163945 N Subviable Y N 2.48018242 99.17809805 0.000100077 71.9 FTV . GBX2 2 236165236 236168369 Y . Y N -0.135728413 39.6828153 0.567961293 28.3 . . GCK 7 44144271 44198170 Y . Y N -0.971455272 8.363720553 0.204306173 38.6 DM . GCLC 6 53497341 53616970 Y . Y N -0.417015534 23.62099902 0.815078355 21.1 DM Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency, 230450 (3); {Myocardial infarction, susceptibility to}, 608446 (3) GCM1 6 53126964 53148829 Y . Y N -0.003392975 49.1578399 0.98833394 10.3 . . GCM2 6 10873223 10881941 Y . Y N 0.609289625 84.45910748 0.001401191 63.3 DM . GDF1 19 18868545 18896096 Y . Y N . . 0.544923744 28.8 DM Double-outlet right ventricle, 217095 (3); Tetralogy of Fallot, 187500 (3); Transposition of great arteries, dextro-looped 3, 613854 (3); Right atrial isomerism, 208530 (3) GDF11 12 55743280 55757278 Y . Y N -0.160151469 38.02743532 0.963838119 13.6 . . GDF3 12 7689782 7695776 Y . Y N 0.156083554 61.48058112 0.081213215 44.4 DM Klippel-Feil syndrome 3, autosomal dominant, 613702 (3); Microphthalmia with coloboma 6, 613703 (3); Microphthalmia, isolated 7, 613704 (3) GDF6 8 96142330 96160792 Y . Y N -0.013766433 48.44591075 0.910386172 17.3 DM Klippel-Feil syndrome 1, autosomal dominant, 118100 (3); Microphthalmia, isolated 4, 613094 (3); Microphthalmia with coloboma 6, digenic, 613703 (3); Leber congenital amaurosis 17, 615360 (3) GDI2 10 5765223 5842132 N Lethal Y N 0.004110017 49.83504081 0.987154825 10.6 . . GDNF 5 37812677 37839686 Y . Y N 0.29385898 70.12212768 0.698672292 24.7 DM Central hypoventilation syndrome, 209880 (3); {Pheochromocytoma, modifier of}, 171300 (3); {Hirschsprung disease, susceptibility to, 3}, 613711 (3) GDPD5 11 75434640 75525903 N Subviable Y N 0.159105079 61.68316259 0.069985124 45.1 . . GEMIN2 14 39114223 39136973 Y . Y N 0.29113834 69.98900272 0.006609197 56.8 . . GFI1B 9 132945533 132991687 Y Lethal Y N 0.666445828 86.11448747 0.012838774 53.9 DM? Bleeding disorder, platelet-type, 17, 187900 (3) GFM1 3 158644278 158692575 Y . Y N -0.270478912 31.25542629 1.66E-06 81.7 DM Combined oxidative phosphorylation deficiency 1, 609060 (3) GFPT1 2 69319769 69387254 N Lethal Y N -0.783869211 11.88285003 0.974567999 12.5 DM Myasthenia, congenital, 12, with tubular aggregates, 610542 (3) GFRA1 10 116056925 116273467 Y . Y N -0.165588061 37.68594085 0.119577143 42.1 DM? . GGA2 16 23463542 23521995 Y . Y N -0.410317473 23.93934132 5.05E-05 73.9 . . GGA3 17 75236599 75262363 Y . Y N -0.365149165 26.12722116 0.505243696 29.8 . . GGCX 2 85544723 85561547 Y . Y N -1.542568919 3.125542629 1.20E-08 88.7 DM Vitamin K-dependent clotting factors, combined deficiency of, 1, 277450 (3); Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency, 610842 (3) GGN 19 38384265 38388082 Y . Y N 0.32976059 72.2926434 0.134074174 41.4 . . GGNBP2 17 36544888 36589848 N Subviable Y N -0.622471401 16.11390866 0.999929112 3.5 . . GGPS1 1 235327350 235344532 N Lethal Y N -0.01663693 48.16808474 0.666629559 25.6 . . GIGYF2 2 232697299 232860575 Y . Y N -0.561043324 17.89083753 1 0.3 DM {Parkinson disease 11}, 607688 (3) GINS1 20 25407727 25452628 Y . Y N -0.070115062 44.4058575 0.050036977 47 . . GINS4 8 41529206 41545046 Y . Y N 0.005872186 49.93922556 0.050472865 47 . . GIT1 17 29573469 29594054 Y . Y N -1.273368834 4.925623662 0.99930323 5.5 DFP . GJA1 6 121435692 121449727 Y . Y N -0.738849285 12.91312149 0.21554685 38.2 DM Oculodentodigital dysplasia, 164200 (3); Syndactyly, type III, 186100 (3); Hypoplastic left heart syndrome 1, 241550 (3); Atrioventricular septal defect 3, 600309 (3); Oculodentodigital dysplasia, autosomal recessive, 257850 (3); Craniometaphyseal dysplasia, autosomal recessive, 218400 (3); Erythrokeratodermia variabilis et progressiva, 133200 (3); Palmoplantar keratoderma with congenital alopecia, 104100 (3) GJA5 1 147756199 147773362 Y . Y N -0.702290312 13.85078428 0.097996496 43.3 DM Atrial fibrillation, familial, 11, 614049 (3); Atrial standstill, digenic (GJA5/SCN5A), 108770 (3) GJB2 13 20187470 20192898 Y . Y N 1.588617734 97.42432135 1.03E-11 94.2 DM Deafness, autosomal recessive 1A, 220290 (3); Deafness, autosomal dominant 3A, 601544 (3); Vohwinkel syndrome, 124500 (3); Keratoderma, palmoplantar, with deafness, 148350 (3); Keratitis-ichthyosis-deafness syndrome, 148210 (3); Hystrix-like ichthyosis with deafness, 602540 (3); Bart-Pumphrey syndrome, 149200 (3) GJB3 1 34781189 34786369 Y . Y N 0.771492772 88.59755745 0.002733071 60.8 DM Erythrokeratodermia variabilis et progressiva, 133200 (3); Deafness, autosomal dominant 2B, 612644 (3); Deafness, autosomal recessive (3); Deafness, autosomal dominant, with peripheral neuropathy (3); Deafness, digenic, GJB2/GJB3, 220290 (3) GJB5 1 34755047 34758512 Y . Y N 0.420604183 76.84204434 7.71E-05 72.7 . . GJC1 17 44798448 44830816 Y . Y N -0.195752553 35.7874631 0.944105282 15.3 . . GK X 30653359 30731456 Y . Y N -0.328090038 27.8173294 0.90325865 17.6 DM Glycerol kinase deficiency, 307030 (3) GLCE 15 69160584 69272217 Y . Y N -0.477040255 21.14950512 0.327374272 34.9 . . GLDC 9 6532464 6645650 Y . Y N -0.421060397 23.48787405 4.88E-14 96.3 DM Glycine encephalopathy, 605899 (3) GLE1 9 128504700 128542288 Y . Y N -0.788348833 11.78445332 1.54E-05 76.9 DM Lethal congenital contracture syndrome 1, 253310 (3); Arthrogryposis, lethal, with anterior horn cell disease, 611890 (3) GLG1 16 74447427 74607144 Y . Y N -1.834179207 2.106847254 0.997711424 7.1 . . GLI2 2 120735623 120992653 Y . Y N -0.311904822 28.81287261 0.998939596 6 DM Holoprosencephaly-9, 610829 (3); Culler-Jones syndrome, 615849 (3) GLI3 7 41960950 42237870 Y . Y N -3.487909043 0.387798808 0.999994739 2.3 DM Greig cephalopolysyndactyly syndrome, 175700 (3); Pallister-Hall syndrome, 146510 (3); Polydactyly, preaxial, type IV, 174700 (3); Polydactyly, postaxial, types A1 and B, 174200 (3); {Hypothalamic hamartomas, somatic}, 241800 (3) GLIS3 9 3824127 4348392 Y . Y N 0.277858723 69.14973664 0.000100597 71.8 DM Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199 (3) GLMN 1 92246402 92298987 Y . Y N 0.267822797 68.56514441 4.17E-06 79.9 DM . GLRA1 5 151822513 151924842 Y . Y N -0.296966779 29.62319847 0.076492455 44.7 DM Hyperekplexia, hereditary 1, autosomal dominant or recessive, 149400 (3) GLRB 4 157076057 157172090 Y . Y N -0.622471401 16.11390866 0.02692812 50.2 DM Hyperekplexia 2, autosomal recessive, 614619 (3) GLRX3 10 130136399 130184521 Y . Y N -0.249230788 32.49406726 0.629710155 26.7 . . GLS 2 190880827 190965552 Y . Y N -0.225764638 33.98159403 0.9993026 5.5 DFP . GLT8D2 12 103988984 104064183 N . Y N 0.580084093 83.4809284 3.34E-07 84.4 . . GLTSCR1L 6 42746958 42868560 Y . Y N -0.684921315 14.38907218 0.999918135 3.6 . . GLUL 1 182381704 182392206 Y . Y N -0.63939225 15.70295769 0.977842593 12.1 DM Glutamine deficiency, congenital, 610015 (3) GMNN 6 24774931 24786099 Y . Y N 0.368890551 74.33003415 0.607453615 27.3 . . GNA13 17 65010715 65056839 Y . Y N -0.114176312 41.19928228 0.533516375 29 . . GNAI2 3 50226292 50259355 Y . Y N -0.257690928 32.05996411 0.86116029 19.5 FP Pituitary ACTH-secreting adenoma (3); Ventricular tachycardia, idiopathic, 192605 (3) GNAL 18 11688956 11885685 Y . Y N -0.464103204 21.6993691 0.98737272 10.5 DM Dystonia 25, 615073 (3) GNAO1 16 56191390 56357444 Y Lethal Y N -0.876782485 10.00173641 0.984288177 11.1 . Epileptic encephalopathy, early infantile, 17, 615473 (3) GNAQ 9 77716087 78031458 Y . Y N -0.002587674 49.23887249 0.984390021 11 DFP Sturge-Weber syndrome, somatic, mosaic, 185300 (3); Capillary malformations, congenital, 1, somatic, mosaic, 163000 (3) GNAS 20 58839718 58911192 Y . Y N 0.255993667 67.82427505 0.999540082 5.1 DM Pseudohypoparathyroidism Ia, 103580 (3); McCune-Albright syndrome, somatic, mosaic 174800 (3); Pseudohypoparathyroidism Ic, 612462 (3); Osseous heteroplasia, progressive, 166350 (3); Pseudohypoparathyroidism Ib, 603233 (3); Acromegaly, somatic, 102200 (3); Pseudopseudohypoparathyroidism, 612463 (3); ACTH-independent macronodular adrenal hyperplasia, 219080 (3) GNB1 1 1785285 1891117 Y . Y N -0.327132777 27.8867859 0.995187833 8.4 . . GNB1L 22 19783224 19854939 Y . Y N 0.570816875 83.10470568 0.001263452 63.8 DM . GNB3 12 6839954 6847393 Y . Y N -0.43393578 23.0248307 6.50E-09 89.4 DFP {Hypertension, essential, susceptibility to}, 145500 (3) GNB5 15 52115105 52191369 Y Subviable Y N -0.411426546 23.88724894 0.001442929 63.2 DM . GNE 9 36214441 36277056 Y . Y N -1.040748883 7.362389304 4.86E-07 83.8 DM Sialuria, 269921 (3); Inclusion body myopathy, autosomal recessive, 600737 (3); Nonaka myopathy, 605820 (3) GNG13 16 798041 800733 N Subviable Y N 0.373525026 74.60207212 0.004892774 58.2 . . GNL3 3 52681156 52694492 Y . Y N 0.163737564 62.07096139 1.54E-09 90.8 . . GNPDA1 5 141991749 142013041 N Lethal Y N -0.462188395 21.78618973 0.003426356 59.8 . . GNPNAT1 14 52775194 52791668 Y . Y N -0.08048891 43.56080338 0.005567409 57.6 . . GOSR2 17 46923117 46967019 N Lethal Y N 0.016245619 50.75533947 0.000289194 68.8 DM Epilepsy, progressive myoclonic 6, 614018 (3) GPC2 7 100169606 100177372 N Subviable Y N -0.190967704 36.11159345 0.307395086 35.5 . . GPC3 X 133535745 133985895 Y . Y N -0.011852785 48.56745963 0.987985909 10.4 DM Simpson-Golabi-Behmel syndrome, type 1, 312870 (3); Wilms tumor, somatic, 194070 (3) GPD2 2 156435290 156613735 Y . Y N -0.248926502 32.51721942 0.000100775 71.8 DM {Diabetes, type 2, susceptibility to}, 125853 (3) GPHN 14 66507407 67181803 Y . Y N -0.839110097 10.78312207 0.999981473 2.8 DM Molybdenum cofactor deficiency C, 615501 (3) GPI 19 34359480 34402156 Y . Y N -0.358752744 26.36453088 0.001581452 62.9 DM Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency, 613470 (3) GPR107 9 130053426 130140169 Y . Y N -0.334481932 27.51635122 0.839149576 20.3 . . GPR161 1 168079543 168137667 Y . Y N -0.993813521 7.964345662 0.02957929 49.7 . . GPR4 19 45589764 45602208 Y . Y N -0.815797634 11.28668172 0.165986422 39.9 . . GPS1 17 82050691 82057470 N Lethal Y N -0.435697089 22.93222203 0.984657456 11 DM? . GPSM2 1 108875350 108934545 N Subviable Y N -0.054805455 45.47664525 2.94E-10 92.2 DM Chudley-McCullough syndrome, 604213 (3) GPX3 5 151020438 151028993 N Lethal Y N -0.130139339 40.0821902 0.015582637 53 . . GPX4 19 1103926 1106791 Y . Y N 0.280765669 69.35810615 0.017329889 52.4 FP . GRB10 7 50590063 50793462 Y . Y N -0.875670325 10.06540487 0.367423739 33.7 DM . GRB2 17 75318076 75405709 Y . Y N -0.149930626 38.75094056 0.549680746 28.6 . . GREM1 15 32717974 32745107 Y . Y N -0.230550154 33.7153441 0.711099436 24.3 DM . GRHL2 8 101492432 101669726 Y . Y N -1.314716032 4.624645482 0.999880613 3.9 DM Deafness, autosomal dominant 28, 608641 (3); Ectodermal dysplasia/short stature syndrome, 616029 (3) GRHL3 1 24319322 24364482 Y . Y N 0.892654271 91.00538288 0.995583958 8.2 . Van der Woude syndrome 2, 606713 (3) GRIA2 4 157204182 157366075 Y . Y N -0.898180758 9.631301731 0.99550949 8.2 DM? . GRID2 4 92303622 93774556 Y . Y N -1.144561901 6.112172252 0.999998447 1.8 . Spinocerebellar ataxia, autosomal recessive 18, 616204 (3) GRIN1 9 137138390 137168762 Y . Y N -1.128074824 6.314753719 0.972708946 12.7 DM Mental retardation, autosomal dominant 8, 614254 (3) GRIN2B 12 13537337 13981957 Y . Y N -2.583059856 0.897146495 0.999994896 2.2 DM Mental retardation, autosomal dominant 6, 613970 (3); Epileptic encephalopathy, early infantile, 27, 616139 (3) GRIP1 12 66347431 66804186 Y . Y N -0.637989054 15.73768594 0.916894968 16.9 DM Fraser syndrome, 219000 (3) GSC 14 94768216 94770230 Y . Y N . . 0.06970834 45.1 DM? Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities, 602471 (3) GSK3B 3 119821323 120094417 Y . Y N -0.522213436 19.34942409 0.998731142 6.2 DFP . GSN 9 121207794 121332843 Y . Y N 1.297211553 95.76894137 3.19E-06 80.4 DM Amyloidosis, Finnish type, 105120 (3) GSS 20 34928430 34955817 Y . Y N 0.159910445 61.75261909 0.022518683 51.1 DM Hemolytic anemia due to glutathione synthetase deficiency, 231900 (3); Glutathione synthetase deficiency, 266130 (3) GSX1 13 27792643 27794768 Y . Y N 0.132467594 59.58789142 0.07955641 44.5 . . GSX2 4 54099523 54102505 Y . Y N -0.070115062 44.4058575 0.148701345 40.7 . . GTF2A1 14 81175452 81221377 Y . Y N -0.358102358 26.39347109 0.956765262 14.2 . . GTF2B 1 88852932 88891944 N Lethal Y N -0.147059443 38.92458181 0.489078694 30.3 . . GTF2H5 6 158168352 158199344 Y . Y N 0.077075925 55.43207733 0.046809979 47.4 DM Trichothiodystrophy 3, photosensitive, 616395 (3) GTF2I 7 74657667 74760692 Y . Y N -0.381414283 25.35741159 0.99934869 5.5 . . GTF2IRD1 7 74453790 74602604 Y . Y N -1.410078509 3.883776119 0.996434357 7.8 DM . GTF3C1 16 27459555 27549913 Y . Y N -1.842155507 2.060542918 0.999995619 2.2 . . GTF3C5 9 133030675 133058503 Y . Y N -0.344703456 27.01857961 0.002740022 60.7 . . GTPBP2 6 43605316 43629162 N Subviable Y N -0.697503755 14.01863749 0.88477892 18.4 . . GUCY1B3 4 155758992 155807591 Y . Y N -0.659987499 15.04312091 0.000916634 65.1 . . GUSB 7 65960684 65982314 Y . Y N -0.742371982 12.82630086 4.07E-05 74.5 DM Mucopolysaccharidosis VII, 253220 (3) GYG1 3 148991341 149027668 N Lethal Y N 0.649526336 85.59935174 6.91E-07 83.2 DM ?Glycogen storage disease XV, 613507 (3); Polyglucosan body myopathy 2, 616199 (3) GYS1 19 48968125 48993310 Y . Y N -0.976893157 8.29426405 0.008322674 55.7 DM Glycogen storage disease 0, muscle, 611556 (3) H2AFZ 4 99948086 99950388 Y . Y N 0.030143764 51.8087631 0.855327139 19.7 . . H3F3A 1 226061851 226072001 Y . Y N 0.113634918 58.26821786 0.692334634 24.8 . . H3F3B 17 75776434 75785893 Y . Y N -0.019507464 47.94813914 0.80972478 21.3 . . HACE1 6 104728093 104859919 N Subviable Y N -1.253726763 5.110841002 0.001595663 62.8 DM? . HADHA 2 26190635 26244726 Y . Y N -0.824909416 11.05516004 0.015111331 53.1 DM LCHAD deficiency, 609016 (3); Trifunctional protein deficiency, 609015 (3); HELLP syndrome, maternal, of pregnancy, 609016 (3); Fatty liver, acute, of pregnancy, 609016 (3) HAND1 5 154474972 154478264 Y . Y N 0.022791848 51.2704752 0.069599474 45.1 DM . HAND2 4 173524969 173530229 Y . Y N 0.275027119 68.98767147 0.351297752 34.1 DM? . HAP1 17 41717742 41734644 Y . Y N 0.920907967 91.51473057 1.59E-19 98.6 DM? . HAPLN1 5 83637805 83721613 Y Subviable Y N 0.164543267 62.12884181 0.260833365 36.7 . . HAS2 8 121612116 121641390 Y . Y N 0.005066824 49.89292122 0.994245616 8.8 . . HAT1 2 171922448 171983682 Y . Y N -0.217304588 34.45621346 0.839884792 20.3 . . HAUS3 4 2227464 2242164 Y . Y N 0.279153051 69.27128552 8.90E-07 82.7 . . HBB 11 5225464 5229395 N . Y N 0.423325465 77.03304972 1.02E-08 88.9 DM Sickle cell anemia, 603903 (3); Thalassemias, beta-, 613985 (3); Erythremias, beta- (3); Methemoglobinemias, beta- (3); Heinz body anemias, beta-, 140700 (3); Thalassemia-beta, dominant inclusion-body, 603902 (3); Hereditary persistence of fetal hemoglobin, 141749 (3); Delta-beta thalassemia, 141749 (3); {Malaria, resistance to}, 611162 (3) HBEGF 5 140332843 140346631 Y . Y N 0.269436731 68.66354112 0.830814322 20.6 DFP {Diphtheria, susceptibility to} (1) HBZ 16 152687 154503 Y . Y N . . 0.016677246 52.6 . . HCN2 19 589893 617159 Y . Y N -1.850415661 2.037390751 0.832343162 20.6 DM . HCN4 15 73319859 73369264 Y . Y N -0.933637607 8.965676912 0.234597783 37.6 DM Sick sinus syndrome 2, 163800 (3); Brugada syndrome 8, 613123 (3) HDAC1 1 32292086 32333635 Y . Y N -0.42275828 23.41841755 0.93791699 15.7 . . HDAC2 6 113933028 114011308 Y . Y N -0.238053216 33.17126816 0.999390588 5.4 . . HDAC3 5 141620876 141636870 Y . Y N -0.287703102 30.21357875 0.955038024 14.3 . . HDAC4 2 239048168 239401654 Y . Y N -0.831990705 10.94518724 0.999989727 2.6 DM . HDAC7 12 47782722 47833132 Y . Y N -0.898031793 9.637089773 0.998019873 6.9 . . HDAC8 X 72329516 72573103 Y . Y N -0.078575026 43.76338485 0.922707725 16.5 DM Wilson-Turner syndrome, 309585 (3); Cornelia de Lange syndrome 5, 300882 (3) HDHD2 18 47107403 47150520 Y . Y N 0.136294125 59.95253806 0.000427885 67.5 . . HECTD1 14 31100112 31207804 Y Lethal Y N -3.27755297 0.463043352 1 0.2 . . HEG1 3 124965710 125055958 Y . Y N 0.733645053 87.67147074 6.99E-06 78.9 . . HELLS 10 94501434 94613905 Y Lethal Y N -0.99764079 7.894889159 0.999418431 5.3 . . HELT 4 185018841 185020804 Y . Y N 0.119525236 58.70810905 0.047397709 47.3 . . HERC2 15 28111040 28322152 Y . Y N -4.269675149 0.162065173 1 0.1 DM [Skin/hair/eye pigmentation 1, blue/nonblue eyes], 227220 (3); [Skin/hair/eye pigmentation 1, blond/brown hair], 227220 (3); Mental retardation, autosomal recessive 38, 615516 (3) HES1 3 194136145 194138732 Y . Y N -0.251145013 32.40145859 0.644078952 26.2 . . HES7 17 8120590 8124092 Y . Y N . . 0.78288357 22.2 DM Spondylocostal dysostosis 4, autosomal recessive, 613686 (3) HESX1 3 57197843 57226521 Y . Y N 0.049933723 53.40047462 0.008163099 55.8 DM Septooptic dysplasia, 182230 (3); Pituitary hormone deficiency, combined, 5, 182230 (3); Growth hormone deficiency with pituitary anomalies, 182230 (3) HEXIM1 17 45148502 45152101 Y . Y N -0.398334639 24.51814551 0.944400235 15.2 . . HEY2 6 125747664 125761269 Y . Y N 0.102605765 57.4173757 0.444357733 31.6 . . HGF 7 81699006 81770438 Y . Y N -1.086727969 6.696764485 0.994701029 8.5 DM Deafness, autosomal recessive 39, 608265 (3) HGS 17 81683326 81703138 Y . Y N -0.949600934 8.728367193 0.131424769 41.5 . . HHAT 1 210328252 210676296 Y . Y N 0.551177708 82.49117324 0.000341684 68.3 . . HHEX 10 92689951 92695646 Y . Y N 0.055523327 53.73618105 0.216268139 38.2 DP . HHIP 4 144646021 144745271 Y . Y N 0.060609534 54.16449615 0.984617794 11 DM . HIC1 17 2054154 2063241 Y . Y N . . . . . . HIF1A 14 61695513 61748259 Y . Y N -1.159852726 5.990623372 0.980689532 11.6 DFP . HINFP 11 119121587 119136044 Y . Y N -0.034210157 46.98153615 0.979628977 11.8 . . HIP1 7 75533300 75738962 Y . Y N -0.680285585 14.49325693 0.999681016 4.7 DM {Prostate cancer, progression of}, 176807 (1) HIPK2 7 139561570 139777778 N Subviable Y N . . 0.99834642 6.7 . . HIRA 22 19330698 19447450 Y . Y N -1.750795203 2.30942872 0.999998171 1.9 . . HK2 2 74833981 74893359 Y . Y N -0.300341933 29.43798113 0.020932844 51.4 DM . HLA-DOA 6 33004178 33009612 Y . Y N 0.373672448 74.62522429 1.88E-05 76.4 FP . HLTF 3 149030127 149086554 Y . Y N -0.254366744 32.17572495 6.81E-20 98.6 . . HLX 1 220879400 220885059 Y . Y N 0.055825476 53.7709093 0.561219969 28.4 DM? . HMBS 11 119084866 119093549 Y . Y N -0.194795544 35.85113156 0.944813616 15.2 DM Porphyria, acute intermittent, 176000 (3); Porphyria, acute intermittent, nonerythroid variant, 176000 (3) HMGA1 6 34236873 34246231 N Subviable Y N 0.097672002 56.94854431 0.724299774 23.9 DM {Diabetes mellitus, noninsulin-dependent, susceptibility to}, 125853 (3) HMGB1 13 30456704 30617597 Y . Y N -0.013918082 48.39381837 0.633893931 26.5 . . HMGCL 1 23801885 23838620 Y . Y N -0.452770663 22.14504833 0.002562529 61 DM HMG-CoA lyase deficiency, 246450 (3) HMGCR 5 75336329 75362104 Y . Y N -0.959165893 8.572090062 0.999836645 4.2 DFP [Statins, attenuated cholesterol lowering by] (3); [Low density lipoprotein cholesterol level QTL 3] (3) HMGN1 21 39342315 39349647 Y . Y N 0.678438311 86.37494935 0.425365462 32.1 . . HMOX1 22 35380361 35394214 Y . Y N 0.460032897 78.82155467 0.000641361 66.3 DM Heme oxygenase-1 deficiency, 614034 (3); {Pulmonary disease, chronic obstructive, susceptibility to}, 606963 (3) HMX1 4 8846076 8871817 Y . Y N . . 0.125284952 41.8 DM Oculoauricular syndrome, 612109 (3) HMX2 10 123148122 123150672 Y . Y N 0.502182723 80.52902703 0.000305119 68.6 DM . HMX3 10 123135962 123137741 Y . Y N . . 0.772661528 22.5 . . HNF1A 12 120978543 121002512 Y . Y N -0.088493219 42.9414829 0.969659467 13 DM MODY, type III, 600496 (3); {Diabetes mellitus, noninsulin-dependent, 2}, 125853 (3); {Diabetes mellitus, insulin-dependent}, 222100 (3); Hepatic adenoma, somatic, 142330 (3); Renal cell carcinoma, 144700 (3); Diabetes mellitus, insulin-dependent, 20, 612520 (3) HNF1B 17 37686432 37745247 Y . Y N -0.10747793 41.66232564 0.999286182 5.6 DM Renal cysts and diabetes syndrome, 137920 (3); Diabetes mellitus, noninsulin-dependent, 125853 (3); {Renal cell carcinoma}, 144700 (3) HNF4A 20 44355700 44434596 Y . Y N -0.989180225 8.05116629 0.919225678 16.7 DM MODY, type I, 125850 (3); {Diabetes mellitus, noninsulin-dependent}, 125853 (3); Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, 616026 (3) HNRNPC 14 21209136 21269494 Y . Y N 0.339834225 72.85987151 0.985848437 10.8 . . HNRNPL 19 38836388 38852347 Y . Y N -0.897377667 9.642877814 0.94506859 15.2 . . HNRNPU 1 244851166 244864542 Y . Y N -0.762162387 12.35168143 0.999903323 3.7 DM . HOPX 4 56647988 56681899 Y . Y N 0.099585278 57.16270186 0.146965694 40.7 . . HOXA1 7 27092993 27095996 Y . Y N -0.237899627 33.20599641 0.084987363 44.1 DM Bosley-Salih-Alorainy syndrome, 601536 (3); Athabaskan brainstem dysgenesis syndrome, 601536 (3) HOXA13 7 27193503 27200106 Y . Y N 0.045300934 53.00688777 . . DM Hand-foot-uterus syndrome, 140000 (3); Guttmacher syndrome, 176305 (3) HOXA2 7 27100354 27102811 Y . Y N -0.179789518 36.75985414 0.278337994 36.2 DM ?Microtia, hearing impairment, and cleft palate (AR), 612290 (3); ?Microtia with or without hearing impairment (AD), 612290 (3) HOXA3 7 27106184 27152581 Y . Y N -0.477040255 21.14950512 0.931754221 16 . . HOXA5 7 27141052 27143668 Y . Y N -0.462188395 21.78618973 0.796212994 21.8 . . HOXB1 17 48528526 48530997 Y . Y N -0.284831791 30.36985588 0.11519971 42.4 DM Facial paresis, hereditary congenital, 3, 614744 (3) HOXB2 17 48540894 48544989 Y . Y N 0.122395494 58.93963072 0.001838308 62.2 . . HOXB3 17 48548870 48604912 Y . Y N -0.723688873 13.31249638 0.610993265 27.2 . . HOXB4 17 48575513 48580111 Y . Y N 0.074356355 55.24107195 0.11974621 42.1 . . HOXC13 12 53938765 53946544 Y . Y N -0.062612024 44.95572148 0.379358816 33.3 DM Ectodermal dysplasia 9, hair/nail type, 614931 (3) HOXC4 12 54016931 54056030 Y . Y N -0.295206149 29.70423106 0.311491216 35.4 . . HOXC8 12 54009106 54012362 Y . Y N -0.037232312 46.79053076 0.392360836 33 . . HOXD3 2 176136612 176173102 Y . Y N -0.099018085 42.16588528 0.407559214 32.6 . . HP 16 72054592 72061055 Y . Y N 0.164543267 62.12884181 0.029390747 49.8 DM [Anhaptoglobinemia], 614081 (3); [Hypohaptoglobinemia], 614081 (3) HP1BP3 1 20742661 20787323 Y . Y N -1.16846588 5.909590785 0.991643468 9.6 . . HPGD 4 174490177 174523154 Y . Y N 0.067810037 54.72014817 0.003282508 60 DM Cranioosteoarthropathy, 259100 (3); Hypertrophic osteoarthropathy, primary, autosomal recessive 1, 259100 (3); Digital clubbing, isolated congenital, 119900 (3) HPS1 10 98416198 98446947 Y . Y N 0.444373045 78.07489726 5.99E-07 83.4 DM Hermansky-Pudlak syndrome 1, 203300 (3) HR 8 22114415 22133384 Y . Y N 1.520759045 97.05967471 2.13E-05 76.1 DM Alopecia universalis, 203655 (3); Atrichia with papular lesions, 209500 (3); Hypotrichosis 4, 146550 (3) HS2ST1 1 86914648 87109998 Y . Y N -0.407752108 24.03194999 0.535866622 29 . . HS3ST1 4 11393150 11429765 Y . Y N -0.389874437 24.9580367 0.00617541 57.1 . . HS6ST1 2 128236716 128318577 Y . Y N 0.330566867 72.36788794 0.906059214 17.5 DM {Hypogonadotropic hypogonadism 15 with or without anosmia}, 614880 (3) HSBP1 16 83807843 83819737 Y . Y N 0.439142351 77.8317995 0.530903532 29.1 . . HSD11B2 16 67430652 67437553 Y . Y N -0.474322733 21.23632575 0.244955465 37.3 DM Apparent mineralocorticoid excess, 218030 (3) HSD17B12 11 43556436 43856617 Y . Y N 0.056630995 53.83457776 0.005554478 57.6 . . HSD17B2 16 82035004 82098534 Y . Y N -0.38972179 24.96961278 3.83E-10 91.9 FP . HSD17B4 5 119452443 119637199 Y . Y N -0.326677122 27.93887828 1.82E-05 76.5 DM D-bifunctional protein deficiency, 261515 (3); Perrault syndrome 1, 233400 (3) HSD17B7 1 162790702 162812817 Y . Y N -0.246359639 32.67349656 0.001754508 62.4 . . HSD3B7 16 30985207 30989152 Y . Y N 0.182419441 63.36748278 4.64E-06 79.7 DM Bile acid synthesis defect, congenital, 1, 607765 (3) HSF1 8 144291591 144314722 Y Subviable Y N -0.677712298 14.56850148 0.586374295 27.8 . . HSP90AA1 14 102080738 102139699 Y . Y N -1.838949534 2.101059212 0.676747647 25.3 FP . HSP90AB1 6 44246166 44253888 Y . Y N -1.234892184 5.25554205 0.995299316 8.3 DFP . HSP90B1 12 103930107 103953645 Y . Y N -1.077310764 6.83567749 0.987843129 10.4 DP . HSPA5 9 125234853 125241330 Y Lethal Y N -0.540893662 18.52752214 0.885688898 18.4 DP . HSPB11 1 53916574 53945929 Y . Y N 0.24597088 67.24547086 0.00497874 58.1 . . HSPD1 2 197486581 197516737 Y . Y N -0.244445663 32.81240956 0.985208244 10.9 DM Spastic paraplegia 13, autosomal dominant, 605280 (3); Leukodystrophy, hypomyelinating, 4, 612233 (3) HSPG2 1 21822245 21937297 Y . Y N 2.201925911 98.86554379 6.95E-06 78.9 DM Schwartz-Jampel syndrome, type 1, 255800 (3); Dyssegmental dysplasia, Silverman-Handmaker type, 224410 (3) HTR1B 6 77462205 77463464 N Subviable Y N -0.465862421 21.6299126 0.645559517 26.2 DFP . HTR2B 2 231108230 231125118 Y Lethal Y N 0.866316624 90.47867107 3.66E-09 89.9 DM . HTR2C X 114584078 114910061 Y . Y N 0.063177242 54.40180587 0.068915286 45.1 DFP . HTR4 5 148451032 148677235 Y . Y N -0.263127019 31.65480118 0.648787513 26.1 . . HTT 4 3074681 3243959 Y . Y N -4.193803867 0.167853215 1 0.4 DM {Anxiety-related personality traits}, 607834 (3); {Obsessive-compulsive disorder}, 164230 (3) HUS1 7 47695730 47979581 Y . Y N -0.233267662 33.50118655 0.000609572 66.4 . . HUWE1 X 53532096 53686729 Y . Y N -3.984812383 0.202581467 1 0.1 DM Mental retardation, X-linked syndromic, Turner type, 300706 (3) HYAL2 3 50317790 50322906 Y . Y N -0.891634218 9.764426694 0.020631512 51.5 . . HYDIN 16 70807378 71230722 Y . Y N 1.072831825 93.6736702 . . DM Ciliary dyskinesia, primary, 5, 608647 (3) HYOU1 11 119044189 119057202 Y . Y N -1.094898716 6.638884066 0.99977936 4.4 . . ICMT 1 6221193 6235972 Y . Y N 0.086492393 56.17873473 0.959145428 14 . . ID2 2 8678845 8684453 Y . Y N -0.147059443 38.92458181 0.583638222 27.9 . . ID4 6 19837386 19840684 Y . Y N . . 0.149454866 40.6 . . IFIH1 2 162267079 162318703 N . Y N 0.891217534 90.96486659 6.00E-26 99.4 DFP Aicardi-Goutieres syndrome 7, 615846 (3); Singleton-Merten syndrome 1, 182250 (3) IFITM5 11 298200 299526 N . Y N 0.617455056 84.68484112 0.000115705 71.4 DM Osteogenesis imperfecta, type V, 610967 (3) IFT122 3 129440036 129520507 Y . Y N -0.908809864 9.428720264 2.16E-11 93.8 DM Cranioectodermal dysplasia 1, 218330 (3) IFT140 16 1510427 1612110 Y . Y N 0.31219171 71.22185565 9.14E-18 98.1 DM Short-rib thoracic dysplasia 9 with or without polydactyly, 266920 (3) IFT172 2 27444371 27489789 Y . Y N -0.652457672 15.31515888 2.29E-18 98.3 . Short-rib thoracic dysplasia 10 with or without polydactyly, 615630 (3); Retinitis pigmentosa 71, 616394 (3) IFT20 17 28328325 28335489 Y . Y N 0.025510984 51.4499045 0.482557827 30.5 . . IFT27 22 36758202 36776256 Y . Y N 0.575302895 83.26677085 0.000880891 65.2 . ?Bardet-Biedl syndrome 19, 615996 (3) IFT52 20 43590931 43647296 Y . Y N -0.152495841 38.53678301 0.00016303 70.4 . . IFT57 3 108160812 108222570 Y . Y N -0.159998829 38.04479944 4.08E-06 79.9 . . IFT80 3 160256986 160399880 Y . Y N -0.081946999 43.43346646 1.44E-10 92.7 DM Short-rib thoracic dysplasia 2 with or without polydactyly, 611263 (3) IFT88 13 20567069 20691437 Y Lethal Y N 0.097319489 56.92539214 1.97E-08 88.2 . . IGF1 12 102395867 102480645 Y . Y N 0.06589658 54.61017538 0.469523496 30.9 DM Growth retardation with deafness and mental retardation due to IGF1 deficiency, 608747 (3) IGF1R 15 98648971 98964530 Y . Y N -2.070456878 1.510678937 0.55297426 28.6 DM Insulin-like growth factor I, resistance to, 270450 (3) IGF2 11 2129112 2149603 Y . Y N -0.181703531 36.63251722 0.025302718 50.4 DM ?Growth restriction, severe, with distinctive facies, 616489 (3) IGF2BP1 17 48997412 49055650 Y . Y N -0.729431296 13.17937142 0.998573997 6.4 . . IGF2R 6 159969099 160113507 Y . Y N -1.505964549 3.333912138 0.999999196 1.6 DFP Hepatocellular carcinoma, somatic, 114550 (3) IHH 2 219054420 219060467 Y . Y N -0.402966415 24.21137929 0.349924209 34.2 DM Acrocapitofemoral dysplasia, 607778 (3); Brachydactyly, type A1, 112500 (3) IKBKAP 9 108867517 108934116 Y . Y N 0.582784264 83.5909012 1.20E-08 88.7 DM Dysautonomia, familial, 223900 (3) IKBKB 8 42271302 42332653 Y . Y N -0.108283071 41.57550501 0.998786699 6.2 . Immunodeficiency 15, 615592 (3) IKBKG X 154541199 154565046 Y . Y N . . 0.628614516 26.7 DM Incontinentia pigmenti, 308300 (3); Ectodermal dysplasia, hypohidrotic, with immune deficiency, 300291 (3); Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, 300301 (3); Immunodeficiency, isolated, 300584 (3); Immunodeficiency 33, 300636 (3); Invasive pneumococcal disease, recurrent isolated, 2, 300640 (3) IKZF1 7 50304124 50405101 Y . Y N -0.80733673 11.40244255 0.985751324 10.8 DP Leukemia, acute lymphoblastic (3) IKZF2 2 212999691 213152427 Y . Y N -0.32506498 28.01412282 0.922956764 16.5 . . IL11RA 9 34650702 34661892 Y . Y N 0.107389526 57.79938647 3.74E-17 97.9 DM Craniosynostosis and dental anomalies, 614188 (3) ILF2 1 153661788 153671048 Y . Y N -0.450054414 22.26080917 0.997052017 7.5 . . ILF3 19 10654261 10692417 Y . Y N -2.203052606 1.267581177 0.999996831 2.1 . . ILK 11 6603708 6610874 Y . Y N -0.326021923 27.98518261 0.042195966 48 DM . IMPA1 8 81657961 81686693 Y . Y N 0.098778904 57.07588123 0.017536006 52.3 . . IMPAD1 8 56957933 56993844 Y . Y N -0.466819625 21.58360827 0.327579022 34.9 DM Chondrodysplasia with joint dislocations, GRAPP type, 614078 (3) IMPDH2 3 49024325 49029408 Y . Y N -0.904881131 9.486600683 0.001353166 63.6 DM? [IMPDH2 enzyme activity, variation in] (3) INCENP 11 62123973 62153163 Y . Y N 0.513972149 81.04416276 0.996086665 7.9 . . INHBA 7 41685114 41703108 Y . Y N -0.170372579 37.39075071 0.55627974 28.5 . . INHBB 2 120346143 120351808 Y . Y N -0.17883254 36.80037043 0.916829218 16.9 DM? . INO80 15 40978880 41116354 N Subviable Y N -1.66512737 2.58146669 1 0.5 . . INO80B 2 74455023 74457960 N Lethal Y N -0.164783496 37.74382127 0.949554116 14.8 . . INPP4A 2 98444854 98594390 Y . Y N -1.073485033 6.881981826 0.994886264 8.5 DFP . INPP5A 10 132537820 132783480 Y . Y N -0.145949748 39.0056144 0.942238414 15.4 . . INPP5E 9 136428619 136439822 Y Lethal Y N 0.152407451 61.18539098 0.388563848 33.1 DM Mental retardation, truncal obesity, retinal dystrophy, and micropenis, 610156 (3); Joubert syndrome 1, 213300 (3) INPP5K 17 1494571 1516888 Y . Y N 0.176829957 62.97389593 0.013388723 53.7 DM? . INPPL1 11 72223701 72239105 Y . Y N -2.006701762 1.626439775 0.006089525 57.1 DM Opsismodysplasia, 258480 (3) INS 11 2159779 2161341 Y . Y N 0.016094318 50.71482318 0.730321288 23.8 DM Hyperproinsulinemia, 616214 (3); Maturity-onset diabetes of the young, type 10, 613370 (3); Diabetes mellitus, permanent neonatal, 606176 (3); Diabetes mellitus, insulin-dependent, 2, 125852 (3) INSM1 20 20368121 20370949 Y . Y N . . . . . . INSR 19 7112255 7294034 Y . Y N -0.89488598 9.68918215 0.186547844 39.1 DM Leprechaunism, 246200 (3); Rabson-Mendenhall syndrome, 262190 (3); Diabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549 (3); Hyperinsulinemic hypoglycemia, familial, 5, 609968 (3) INTS1 7 1470277 1504367 Y . Y N -1.306256541 4.653585692 0.224121375 37.9 . . INTS12 4 105682627 105895986 Y Lethal Y N -0.488371748 20.65173352 0.687399444 24.9 . . INTS2 17 61865367 61928016 Y . Y N -0.854777814 10.48214389 0.999806217 4.3 . . INTS6 13 51354077 51454264 Y . Y N -0.807182583 11.4082306 0.999996535 2.1 . . INTU 4 127623271 127726737 Y . Y N 0.199643642 64.36302599 3.66E-07 84.2 DM? . INVS 9 100099256 100301000 Y . Y N -0.283422834 30.45667651 1.45E-06 82 DM Nephronophthisis 2, infantile, 602088 (3) IPMK 10 58191517 58267934 Y . Y N -0.29042075 30.03993749 0.426106182 32.1 . . IPO9 1 201829141 201884294 Y . Y N -1.042513735 7.339237136 0.999992155 2.4 . . IPPK 9 92613184 92670265 Y . Y N 0.00793724 50.1244429 0.973790826 12.5 . . IRF6 1 209785623 209806175 Y . Y N -0.232310623 33.58800718 0.975119181 12.4 DM van der Woude syndrome, 119300 (3); Popliteal pterygium syndrome 1, 119500 (3); Orofacial cleft 6, 608864 (3) IRS1 2 226731317 226799759 Y . Y N 0.0950614 56.77490305 0.218507352 38.1 DM {Diabetes mellitus, noninsulin-dependent}, 125853 (3); {Coronary artery disease, susceptibility to} (3) ISL1 5 51383391 51394738 Y . Y N -0.233267662 33.50118655 0.60613579 27.3 DM . ISL2 15 76336724 76342476 Y . Y N -0.232310623 33.58800718 0.329330132 34.9 . . ISLR2 15 74100311 74138540 Y . Y N -1.233935819 5.272906176 . . . . ISPD 7 16087527 16421322 Y . Y N . . 0.002436602 61.2 DM Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, 614643 (3); Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7, 616052 (3) ITGA3 17 50055968 50090481 Y . Y N -0.084515628 43.23088499 2.41E-05 75.8 DM Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, 614748 (3) ITGA4 2 181457202 181536187 Y . Y N -1.45428514 3.617526191 0.028851702 49.9 DFP . ITGA5 12 54395261 54419460 Y . Y N -1.388519298 4.005324999 0.999798063 4.3 DM? . ITGA6 2 172427354 172506282 Y . Y N -1.550890839 3.073450252 0.009913603 54.9 DM Epidermolysis bullosa, junctional, with pyloric stenosis, 226730 (3) ITGA7 12 55684568 55716043 Y . Y N -0.32160346 28.16461191 1.81E-09 90.6 DM Muscular dystrophy, congenital, due to ITGA7 deficiency, 613204 (3) ITGA8 10 15513949 15720125 Y Subviable Y N 0.096668045 56.86172368 5.02E-08 87 DP Renal hypodysplasia/aplasia 1, 191830 (3) ITGA9 3 37452115 37823514 Y . Y N -0.491601267 20.5243966 0.096191748 43.4 DM . ITGAV 2 186590065 186680901 Y . Y N -0.697061222 14.03021358 0.47786643 30.6 . . ITGB1 10 32900319 33005792 Y . Y N -0.936655249 8.925160618 0.914111641 17 . . ITGB1BP1 2 9403475 9423547 Y . Y N -0.185531789 36.42414771 0.001900849 62 . . ITGB2 21 44885953 44931989 Y . Y N -0.576050113 17.47988655 3.88E-05 74.6 DM Leukocyte adhesion deficiency, 116920 (3) ITGB3 17 47253846 47311816 Y . Y N -0.040604961 46.58216125 0.141699545 41 DM Glanzmann thrombasthenia, 273800 (3); Thrombocytopenia, neonatal alloimmune (3); {Myocardial infarction, susceptibility to}, 608446 (3); Purpura, posttransfusion (3); Bleeding disorder, platelet-type, 16, autosomal dominant, 187800 (3) ITGB4 17 75721328 75757818 Y . Y N -0.125781592 40.34844012 1.05E-11 94.2 DM Epidermolysis bullosa, junctional, with pyloric atresia, 226730 (3); Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3); Epidermolysis bullosa of hands and feet, 131800 (3) ITGB8 7 20330702 20415754 Y . Y N -0.482478742 20.87746715 0.998351444 6.7 . . ITM2C 2 230864639 230879248 N Subviable Y N 0.0931893 56.64756613 0.208530379 38.5 FTV . ITPA 20 3208868 3223870 Y . Y N 0.234790597 66.51038954 8.97E-05 72.2 DM? [Inosine triphosphatase deficiency], 613850 (3) ITPK1 14 92936914 93116320 N . Y N -0.524930204 19.22208717 0.987051327 10.6 . . ITPR1 3 4493348 4847840 Y . Y N -4.337205436 0.156277131 1 0.3 DM Spinocerebellar ataxia 15, 606658 (3); Spinocerebellar ataxia 29, congenital nonprogressive, 117360 (3) ITSN1 21 33642400 33899861 Y . Y N -2.786643376 0.717717196 0.999999974 0.9 . . IVD 15 40405795 40435947 N Lethal Y N -0.21156288 34.83822423 1.73E-11 94 DM Isovaleric acidemia, 243500 (3) IVNS1ABP 1 185296388 185317329 Y . Y N -0.153452738 38.50205475 0.999065766 5.8 . . JADE1 4 128809623 128875224 Y . Y N -0.934741508 8.954100828 . . . . JAG1 20 10637684 10674107 Y . Y N -0.521614729 19.38415234 0.999999616 1.4 DM Alagille syndrome, 118450 (3); Tetralogy of Fallot, 187500 (3); ?Deafness, congenital heart defects, and posterior embryotoxon (3) JAG2 14 105140981 105168824 Y Lethal Y N -1.003760201 7.813856572 0.990248881 9.9 DM? . JAK1 1 64833229 64966504 Y . Y N -1.175671624 5.840134283 0.99590968 8 . . JAK2 9 4985033 5128183 Y . Y N -1.45701531 3.594374023 0.969034927 13.1 DM Polycythemia vera, somatic, 263300 (3); Thrombocythemia 3, 614521 (3); Myelofibrosis, somatic, 254450 (3); Erythrocytosis, somatic, 133100 (3); Leukemia, acute myeloid, somatic, 601626 (3); {Budd-Chiari syndrome, somatic}, 600800 (3) JAM3 11 134068925 134152001 Y Subviable Y N -0.115937794 41.07194536 0.000178704 70.2 DM Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, 613730 (3) JARID2 6 15246296 15522040 Y . Y N -2.183159651 1.313885513 0.999862193 4.1 DM . JMJD6 17 76712832 76726799 Y Lethal Y N -0.700375489 13.90287666 0.821640918 20.9 . . JPH1 8 74234700 74321328 Y . Y N -0.232963753 33.53012676 0.706129633 24.5 . . JPH2 20 44111695 44187578 Y . Y N -0.416058551 23.66730335 0.014504442 53.3 DM Cardiomyopathy, hypertrophic, 17, 613873 (3) JUN 1 58780788 58784327 Y . Y N -0.226721694 33.94107773 0.460851901 31.1 DFP . JUP 17 41754604 41786931 Y Lethal Y N -0.270329443 31.26121433 0.037534537 48.6 DM Naxos disease, 601214 (3); Arrhythmogenic right ventricular dysplasia 12, 611528 (3) KALRN 3 124080023 124726325 Y . Y N -3.808370397 0.289402095 0.999996915 2.1 DP {Coronary heart disease, susceptibility to, 5}, 608901 (3) KARS 16 75627474 75648643 N Lethal Y N -0.890528229 9.78179082 0.085907813 44 DM ?Charcot-Marie-Tooth disease, recessive intermediate, B, 613641 (3); Deafness, autosomal recessive 89, 613916 (3) KAT2A 17 42113108 42121358 Y . Y N -1.0501663 7.211900214 0.40833206 32.5 . . KAT5 11 65711996 65719604 Y . Y N -0.987419827 8.074318458 0.471177719 30.8 . . KAT6A 8 41929479 42051990 Y . Y N -1.73903438 2.321004804 0.999999985 0.8 . Mental retardation, autosomal dominant 32, 616268 (3) KAT6B 10 74825582 75032622 Y . Y N -3.083194492 0.578804191 0.999999923 1.1 DM SBBYSS syndrome, 603736 (3); Genitopatellar syndrome, 606170 (3) KAT7 17 49788555 49835030 Y . Y N -0.17883254 36.80037043 0.999956771 3.2 . . KAT8 16 31115754 31131393 Y . Y N -0.522213436 19.34942409 0.912576388 17.2 . . KATNB1 16 57735730 57757250 N Lethal Y N -0.898988059 9.608149563 0.496734037 30 . Lissencephaly 6, with microcephaly, 616212 (3) KCMF1 2 84971093 85059472 Y . Y N -0.274611335 31.00075245 0.595292976 27.5 . . KCNA2 1 110593580 110631474 Y . Y N -0.6282154 15.9113272 0.884173956 18.4 . Epileptic encephalopathy, early infantile, 32, 616366 (3) KCNH2 7 150944961 150978315 Y . Y N -0.545225628 18.37703305 0.996051302 7.9 DM Long QT syndrome 2, 613688 (3); {Long QT syndrome 2, acquired, susceptibility to}, 613688 (3); Short QT syndrome 1, 609620 (3) KCNJ1 11 128836315 128867373 Y . Y N 0.158953701 61.6715865 0.001702479 62.5 DM Bartter syndrome, type 2, 241200 (3) KCNJ10 1 160037467 160070248 Y . Y N -0.125354587 40.43526075 0.598388823 27.5 DM SESAME syndrome, 612780 (3); Enlarged vestibular aqueduct, digenic, 600791 (3) KCNJ2 17 70168673 70180048 Y . Y N -0.740764261 12.84945303 0.820229028 21 DM Andersen syndrome, 170390 (3); Short QT syndrome 3, 609622 (3); Atrial fibrillation, familial, 9, 613980 (3) KCNJ6 21 37607376 37916446 Y . Y N -0.469691512 21.4504833 0.812451385 21.2 DP Keppen-Lubinsky syndrome, 614098 (3) KCNK5 6 39188973 39229450 Y . Y N -0.007068709 4.89E+01 0.884297675 18.4 . . KCNN2 5 114360945 114496500 Y . Y N -1.256597889 5.093476877 0.971048689 12.9 . . KCNQ2 20 63400210 63472677 Y . Y N -1.128880783 6.291601551 0.999356099 5.4 DM Seizures, benign neonatal, 1, 121200 (3); Myokymia, 121200 (3); Epileptic encephalopathy, early infantile, 7, 613720 (3) KCNQ3 8 132120859 132480953 Y . Y N -1.08098883 6.789373155 0.985604294 10.8 DM Seizures, benign neonatal, type 2, 121201 (3) KCNQ5 6 72621792 73198851 Y . Y N -1.355914432 4.248422759 0.999535087 5.1 . . KCTD10 12 109448656 109477544 Y . Y N -0.149777475 38.76251664 0.172669813 39.6 . . KCTD15 19 33795933 33815763 N Lethal Y N -0.153605457 38.49626671 0.130646194 41.5 . . KDF1 1 26949562 26960406 Y . Y N . . . . . . KDM1A 1 23019448 23083689 Y . Y N -0.77540849 12.09121954 0.991027965 9.7 . . KDM2B 12 121429097 121581015 Y . Y N -1.862180835 2.008450541 0.999785914 4.4 . . KDM4B 19 4969113 5153595 Y . Y N -1.20650496 5.49863981 0.999934757 3.4 . . KDM5A 12 280129 389454 Y . Y N -2.160539785 1.360189848 0.999994827 2.2 DM . KDM5B 1 202724491 202809470 N . Y N -1.952254514 1.759564739 5.09E-05 73.8 DM . KDM5C X 53191321 53225422 N Lethal Y N -1.658007979 2.621982983 0.997842569 7.1 DM Mental retardation, X-linked, syndromic, Claes-Jensen type, 300534 (3) KDM6A X 44873177 45112602 Y . Y N -1.16640015 5.938530995 0.999987121 2.6 DM Kabuki syndrome 2, 300867 (3) KDM6B 17 7839904 7854796 Y . Y N -0.350380344 26.76969381 0.999994425 2.3 DM . KDM7A 7 140084746 140177035 Y . Y N -0.672928946 14.6958384 . . . . KDM8 16 27203495 27221768 Y Lethal Y N 0.003304686 49.75979626 0.007264585 56.4 . . KDR 4 55078477 55125589 Y . Y N -0.092675929 42.61735255 0.984488112 11 DFP Hemangioma, capillary infantile, somatic, 602089 (3); {Hemangioma, capillary infantile, susceptibility to}, 602089 (3) KEAP1 19 10486120 10503741 Y . Y N -0.930108727 9.040921456 0.251629058 37.1 DM . KHDRBS1 1 32013829 32060850 Y . Y N -0.449096955 22.33605371 0.946876459 15 . . KIAA0586 14 58427385 58551289 Y . Y N 0.940075056 91.86780112 1.45E-12 95.1 . Joubert syndrome, 616490 (3); Short-rib thoracic dysplasia 14 with polydactyly, 616546 (3) KIAA0753 17 6578148 6640927 N Lethal Y N 0.690378193 86.67592753 3.17E-19 98.5 . . KIAA1324 1 109113679 109206781 N Subviable Y N -0.095695258 42.33952654 2.15E-08 88.1 . . KIAA1429 8 94487693 94553529 Y . Y N -2.037579079 1.556983273 0.999441599 5.3 . . KIAA1715 2 175923892 176002839 Y . Y N 0.694546274 86.78590033 0.001923583 62 . . KIAA2018 3 113648385 113696646 N . Y N -1.548441542 3.096602419 0.999948325 3.3 . . KIDINS220 2 8725278 8837630 Y . Y N -1.987789739 1.678532153 0.029044578 49.8 . . KIF11 10 92593286 92655395 Y . Y N 0.25951471 68.01528043 0.999996043 2.1 DM Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation, 152950 (3) KIF14 1 200551497 200620734 Y . Y N 0.069679561 54.87063726 6.03E-05 73.4 . ?Meckel syndrome 12, 616258 (3) KIF16B 20 16272104 16573433 Y . Y N 0.96005725 92.20350755 4.35E-13 95.6 . . KIF19 17 74326210 74355820 Y . Y N 2.228163205 98.90027204 5.37E-13 95.5 . . KIF1A 2 240713764 240820308 Y . Y N -2.846717007 0.671412861 0.999989437 2.6 DM Spastic paraplegia 30, autosomal recessive, 610357 (3); Neuropathy, hereditary sensory, type IIC, 614213 (3); Mental retardation, autosomal dominant 9, 614255 (3) KIF1B 1 10210805 10381603 Y Lethal Y N -2.165995102 1.348613764 1 0.4 DM ?Charcot-Marie-Tooth disease, type 2A1, 118210 (3); Pheochromocytoma, 171300 (3); {Neuroblastoma, susceptibility to, 1}, 256700 (3) KIF1BP 10 68988721 69016982 N . Y N . . . . . . KIF20A 5 138178719 138187715 N Lethal Y N -0.441137012 22.68333623 1.92E-08 88.2 . . KIF20B 10 89701610 89774939 Y . Y N -0.105473595 41.74914626 6.55E-10 91.5 . . KIF22 16 29790719 29805385 Y . Y N -0.459012748 21.92510274 4.40E-06 79.8 DM Spondyloepimetaphyseal dysplasia with joint laxity, type 2, 603546 (3) KIF26A 14 104138723 104180894 Y . Y N . . 0.410903691 32.5 . . KIF26B 1 245154985 245709431 Y Lethal Y N 0.96600989 92.25559993 0.999987956 2.6 . . KIF2A 5 62306162 62537249 Y . Y N -0.339267298 27.29640563 0.999339689 5.5 DM Cortical dysplasia, complex, with other brain malformations 3, 615411 (3) KIF3A 5 132692628 132737638 Y . Y N -0.978958829 8.247959715 0.992416128 9.3 . . KIF3B 20 32277664 32335011 Y Lethal Y N -1.351279884 4.300515136 0.299149041 35.7 . . KIF5A 12 57549998 57586632 Y . Y N -1.891623114 1.898477745 0.999979703 2.8 DM Spastic paraplegia 10, autosomal dominant, 604187 (3) KIF5B 10 32009010 32056431 Y . Y N -1.031331836 7.454997974 0.761006988 22.8 DFP . KIF7 15 89608789 89655451 Y . Y N -0.023383058 47.71661747 4.16E-08 87.2 DM ?Hydrolethalus syndrome 2, 614120 (3); Acrocallosal syndrome, 200990 (3); Joubert syndrome 12, 200990 (3) KIFAP3 1 169921326 170085208 Y . Y N -0.73486863 13.02309429 0.001971549 61.9 DFP . KIRREL 1 157993273 158100262 Y . Y N -0.530367513 18.99635353 0.959460083 14 . . KIT 4 54657918 54740715 Y . Y N -1.61474966 2.789836198 0.999879541 3.9 DM Piebaldism, 172800 (3); Gastrointestinal stromal tumor, familial, 606764 (3); Mast cell disease, 154800 (3); Leukemia, acute myeloid, 601626 (3); Germ cell tumors, 273300 (3) KITLG 12 88492793 88580851 Y . Y N -0.296163317 29.65792672 0.508530402 29.7 DM [Skin/hair/eye pigmentation 7, blond/brown hair], 611664 (3); Hyperpigmentation with or without hypopigmentation, 145250 (3) KLF1 19 12884423 12887181 Y . Y N 0.596856816 84.01342826 0.000201077 69.8 DM Blood group--Lutheran inhibitor, 111150 (3); [Hereditary persistence of fetal hemoglobin], 613566 (3); Dyserythropoietic anemia, congenital, type IV, 613673 (3) KLF2 19 16324817 16327874 Y . Y N . . 0.741705189 23.4 . . KLF3 4 38664196 38701042 Y . Y N -0.384285668 25.21271054 0.800390629 21.7 . . KLF4 9 107484852 107490482 Y . Y N -0.167501818 37.55860392 0.981049996 11.6 . . KLF5 13 73054976 73077542 Y . Y N -0.021269443 47.84974243 0.871983359 19 DFP . KLF6 10 3775996 3785281 Y . Y N -0.069158154 44.44637379 0.925053295 16.4 DM? Prostate cancer, somatic, 176807 (3); Gastric cancer, somatic, 613659 (3) KLF7 2 207074137 207167267 Y Lethal Y N -0.256733821 32.08311628 0.929930709 16.1 DP . KLHDC2 14 49767608 49786385 N Lethal Y N 0.540655179 82.08022226 0.157958962 40.3 . . KLHL21 1 6590724 6614607 Y . Y N . . 0.001077352 64.4 . . KLHL29 2 23385217 23708611 N Subviable Y N . . . . . . KMT2A 11 118436490 118526832 Y . Y N -3.718165765 0.324130347 1 0.1 . Wiedemann-Steiner syndrome, 605130 (3); Leukemia, myeloid/lymphoid or mixed-lineage (2) KMT2B 19 35718019 35738878 N . Y N -2.42501619 1.030271459 0.999999997 0.7 . . KMT2C 7 152134922 152436005 Y . Y N 0.791629466 89.00850842 1 0.1 . . KMT2D 12 49018975 49059774 Y . Y N -5.43891181 0.069456503 1 0.1 . Kabuki syndrome 1, 147920 (3) KMT2E 7 105014179 105114361 Y . Y N -3.27192632 0.468831394 0.999999995 0.7 . . KPNB1 17 47649476 47685505 Y . Y N -0.609379428 16.47276726 0.999994328 2.3 . . KRAS 12 25204789 25250936 Y . Y N -0.163979691 37.76118539 0.001061193 64.5 DM Lung cancer, somatic, 211980 (3); Bladder cancer, somatic, 109800 (3); Pancreatic carcinoma, somatic, 260350 (3); Gastric cancer, somatic, 137215 (3); Leukemia, acute myeloid, 601626 (3); Noonan syndrome 3, 609942 (3); Cardiofaciocutaneous syndrome 2, 615278 (3); Breast cancer, somatic, 114480 (3); Schimmelpenning-feuerstein-Mims syndrome, somatic mosaic, 163200 (3); RAS-associated autoimmune leukoproliferative disorder, 614470 KRIT1 7 92198969 92246166 Y Lethal Y N -0.994770199 7.935405452 0.094238245 43.5 DM Cerebral cavernous malformations-1, 116860 (3); Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations, 116860 (3); Cavernous malformations of CNS and retina, 116860 (3) KRT1 12 52674736 52680407 Y . Y N -0.367212606 26.01724836 0.973618209 12.6 DM Epidermolytic hyperkeratosis, 113800 (3); Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602 (3); Ichthyosis histrix, Curth-Macklin type, 146590 (3); Palmoplantar keratoderma, nonepidermolytic, 600962 (3); Palmoplantar keratoderma, epidermolytic, 144200 (3); Keratosis palmoplantaris striata III, 607654 (3) KRT10 17 40818117 40822595 Y . Y N 0.100843326 57.30161486 0.020062694 51.7 DM Epidermolytic hyperkeratosis, 113800 (3); Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602 (3); Ichthyosis with confetti, 609165 (3) KRT14 17 41582279 41586921 Y . Y N -0.52956212 19.03686983 0.067342984 45.3 DM Epidermolysis bullosa simplex, Dowling-Meara type, 131760 (3); Epidermolysis bullosa simplex, Koebner type, 131900 (3); Epidermolysis bullosa simplex, recessive 1, 601001 (3); Naegeli-Franceschetti-Jadassohn syndrome, 161000 (3); Dermatopathia pigmentosa reticularis, 125595 (3); Epidermolysis bullosa simplex, Weber-Cockayne type, 131800 (3) KRT16 17 41609778 41615899 Y . Y N 1.702291703 97.91051687 2.17E-09 90.4 DM Pachyonychia congenita 1, 167200 (3); Palmoplantar keratoderma, nonepidermolytic, focal, 613000 (3) KRT19 17 41523617 41528308 Y . Y N 0.185289731 63.54112404 0.003936455 59.1 . . KRT2 12 52644558 52652164 N Subviable Y N 0.665793886 86.09712334 0.067349919 45.3 DM Ichthyosis bullosa of Siemens, 146800 (3) KRT4 12 52806549 52814551 Y . Y N 1.257617954 95.49111536 0.000566043 66.7 DM White sponge nevus 1, 193900 (3) KRT5 12 52514575 52520687 Y Subviable Y N 0.466882337 79.17462522 0.469327658 30.9 DM Epidermolysis bullosa simplex, Dowling-Meara type, 131760 (3); Epidermolysis bullosa simplex, Koebner type, 131900 (3); Epidermolysis bullosa simplex, Weber-Cockayne type, 131800 (3); Epidermolysis bullosa simplex-MP, 131960 (3); Dowling-Degos disease 1, 179850 (3); Epidermylysis bullosa simplex-MCR, 609352 (3); Epidermolysis bullosa simplex, recessive 1, 601001 (3) KRT6A 12 52487174 52493257 Y . Y N 1.590835799 97.43010939 0.948763036 14.9 DM Pachyonychia congenita 3, 615726 (3) KRT6B 12 52446651 52452126 Y . Y N 0.749287392 88.08820976 0.004792655 58.3 DM Pachyonychia congenita 4, 615728 (3) KRT8 12 52897187 52949954 Y Lethal Y N 0.76318244 88.40655206 5.61E-06 79.3 DM Cirrhosis, cryptogenic, 215600 (3); {Cirrhosis, noncryptogenic, susceptibility to}, 215600 (3) L1CAM X 153861514 153909223 Y . Y N -1.096809474 6.633096024 0.999983696 2.7 DM Hydrocephalus due to aqueductal stenosis, 307000 (3); MASA syndrome, 303350 (3); CRASH syndrome, 303350 (3); Hydrocephalus with Hirschsprung disease, 307000 (3); Hydrocephalus with congenital idiopathic intestinal pseudoobstruction, 307000 (3); Corpus callosum, partial agenesis of, 304100 (3) L3MBTL2 22 41205205 41231271 Y . Y N -0.65792236 15.11836546 0.013028043 53.8 . . L3MBTL3 6 130013699 130141451 Y . Y N -0.914951523 9.301383342 0.999498723 5.2 . . LAMA1 18 6941744 7117814 Y . Y N 0.460083925 78.82734271 1.39E-24 99.3 DM Poretti-Boltshauser syndrome, 615960 (3) LAMA2 6 128883141 129516569 Y . Y N -1.715198666 2.396249349 1.18E-24 99.3 DM Muscular dystrophy, congenital merosin-deficient, 607855 (3); Muscular dystrophy, congenital, due to partial LAMA2 deficiency, 607855 (3) LAMA3 18 23689443 23955066 Y . Y N 0.505898344 80.6910922 4.41E-24 99.2 DM Epidermolysis bullosa, junctional, Herlitz type, 226700 (3); Epidermolysis bullosa, generalized atrophic benign, 226650 (3); Laryngoonychocutaneous syndrome, 245660 (3) LAMA5 20 62307955 62367312 Y Lethal Y N 7.641810784 99.91896741 0.943037981 15.4 DP . LAMB1 7 107923799 108003255 Y . Y N -1.387963409 4.016901082 1.79E-06 81.5 DM Lissencephaly 5, 615191 (3) LAMB2 3 49121114 49133118 Y . Y N -0.234811651 33.37384963 7.45E-11 93.1 DM Nephrotic syndrome, type 5, with or without ocular abnormalities, 614199 (3); Pierson syndrome, 609049 (3) LAMC1 1 183023460 183145592 Y . Y N -0.190074362 36.16368583 0.999999625 1.4 DM . LAMC2 1 183186238 183244900 Y . Y N 1.096867557 93.91097992 7.93E-05 72.6 DM Epidermolysis bullosa, junctional, Herlitz type, 226700 (3); Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3) LAMTOR1 11 72085895 72103387 Y . Y N 0.282530296 69.45650287 0.435675723 31.8 . . LAMTOR2 1 156054752 156058510 Y . Y N -0.134924458 39.72911964 0.481086312 30.5 DM Immunodeficiency due to defect in MAPBP-interacting protein, 610798 (3) LAMTOR5 1 110401249 110407942 N Lethal Y N 0.415822269 76.63946287 0.007116048 56.5 . . LARGE 22 33162226 33922841 Y . Y N -0.994623069 7.941193494 0.958481012 14.1 DM Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, 613154 (3); Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, 608840 (3) LARP7 4 112636964 112657592 Y . Y N 0.102756917 57.42316374 0.015080323 53.1 DM Alazami syndrome, 615071 (3) LATS1 6 149658153 149718256 Y . Y N -1.149337384 6.083232043 0.999926526 3.5 . . LATS2 13 20973032 21061547 Y . Y N -0.283422834 30.45667651 0.869216004 19.1 . . LBR 1 225401502 225428925 Y . Y N 0.348594083 73.3287029 0.997025227 7.5 DM Pelger-Huet anomaly, 169400 (3); Greenberg skeletal dysplasia, 215140 (3); ?Reynolds syndrome, 613471 (3) LBX1 10 101226195 101229794 Y . Y N -0.349641992 26.83336227 0.805820729 21.4 . . LCMT1 16 25111729 25178231 Y . Y N -0.278285832 30.69977427 0.001550584 62.9 . . LCP2 5 170246237 170298227 Y . Y N -0.129030009 40.15743474 0.98890038 10.2 . . LDB1 10 102107560 102120453 Y . Y N -0.5962877 16.80268565 0.879454005 18.6 . . LDB3 10 86668449 86736068 Y . Y N 1.197909032 94.98755571 0.00021485 69.6 DM Myopathy, myofibrillar, 4, 609452 (3); Cardiomyopathy, dilated, 1C, with or without LVNC, 601493 (3); Cardiomyopathy, hypertrophic, 24, 601493 (3); Left ventricular noncompaction 3, 601493 (3) LDHA 11 18394388 18408425 Y . Y N -0.164783496 37.74382127 0.05865759 46.1 DM Glycogen storage disease XI, 612933 (3) LEF1 4 108047545 108168956 Y . Y N 0.134531237 59.82520113 0.970134677 13 . Sebaceous tumors, somatic (3) LEFTY1 1 225886282 225911382 Y . Y N 1.186107805 94.92388725 6.88E-05 72.9 . . LEFTY2 1 225936598 225941489 Y . Y N -0.273500756 31.08178503 0.122897476 42 DM Left-right axis malformations (3) LEMD2 6 33771202 33789136 N . Y N -0.189206557 36.19841408 0.302373361 35.7 . . LEMD3 12 65169571 65248327 Y . Y N -0.332416646 27.63211206 0.998968435 5.9 DM Osteopoikilosis, 166700 (3); Buschke-Ollendorff syndrome, 166700 (3); Melorheostosis with osteopoikilosis, 155950 (3) LEP 7 128241284 128257628 N . Y N 0.004915377 49.86976906 0.318971026 35.2 DM Obesity, morbid, due to leptin deficiency, 614962 (3) LFNG 7 2512529 2529177 Y . Y N 0.432890148 77.54818545 0.424039269 32.2 DM ?Spondylocostal dysostosis 3, autosomal recessive, 609813 (3) LGI1 10 93757809 93798174 Y . Y N -0.837350249 10.81785032 0.997175814 7.4 DM Epilepsy, familial temporal lobe, 1, 600512 (3) LGI4 19 35124513 35142451 Y . Y N . . 0.026319913 50.3 . . LGR4 11 27365961 27472775 Y . Y N -0.783566744 11.89442612 0.994112645 8.8 DFP {Bone mineral density, low, susceptibility to}, 615311 (3) LGR5 12 71439770 71586310 Y . Y N -0.116441313 41.0082769 1.14E-05 77.8 . . LHX1 17 36936785 36944612 Y . Y N -0.150734446 38.66411993 0.289265566 36 DM . LHX2 9 124001670 124033301 Y . Y N -0.248273713 32.55773572 0.946789689 15.1 . . LHX3 9 136196250 136205109 Y . Y N -0.201341563 35.40545234 0.158417723 40.2 DM Pituitary hormone deficiency, combined, 3, 221750 (3) LHX4 1 180230286 180278982 Y . Y N -0.06150319 44.99623777 0.401093501 32.7 DM Pituitary hormone deficiency, combined, 4, 262700 (3) LHX5 12 113462034 113472280 Y . Y N -0.124550289 40.46420096 0.695818426 24.7 . . LHX6 9 122202577 122229626 Y . Y N -0.212672702 34.75719164 0.948528053 14.9 . . LHX8 1 75128434 75161533 Y . Y N -0.295206149 29.70423106 0.663323206 25.7 DM? . LIAS 4 39459000 39477653 Y . Y N -0.497789345 20.304451 0.061413759 45.8 DM Pyruvate dehydrogenase lipoic acid synthetase deficiency, 614462 (3) LIF 22 30240447 30246851 Y . Y N -0.076661182 43.91387394 0.774442436 22.5 DM . LIFR 5 38474963 38608354 Y Lethal Y N -0.370592408 25.84939515 0.001006843 64.7 DM Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, 601559 (3) LIG1 19 48115445 48170603 Y . Y N -0.461587925 21.8093419 0.017705097 52.2 DM DNA ligase I deficiency (3) LIG3 17 34980494 35009743 Y . Y N -1.259989557 5.058748625 2.83E-06 80.6 FP . LIG4 13 108207439 108218368 Y . Y N 0.040166042 52.56699659 0.002101238 61.7 DM LIG4 syndrome, 606593 (3); {Multiple myeloma, resistance to}, 254500 (3) LIMA1 12 50175788 50283546 N Subviable Y N -0.187945663 36.26787058 1.28E-07 85.8 . . LIMS1 2 108534355 108687246 Y . Y N . . 0.347565207 34.3 . . LIN28A 1 26410778 26429722 Y . Y N 0.08936246 56.39289228 0.196269887 38.8 DFP . LIN9 1 226231149 226309869 Y . Y N -0.895462846 9.671818024 0.9999265 3.5 . . LIPI 21 14108813 14210891 Y . Y N 0.54080415 82.10337443 8.83E-09 89.1 DM {Hypertriglyceridemia, susceptibility to}, 145750 (3) LLGL1 17 18225587 18244875 Y . Y N -1.281418654 4.838803033 0.977463207 12.1 DM? . LLGL2 17 75525080 75575208 Y . Y N 1.770520072 98.11888638 8.27E-07 82.8 . . LMAN1 18 59327823 59359962 Y . Y N -0.58863046 17.126816 0.486069839 30.4 DM Combined factor V and VIII deficiency, 227300 (3) LMBRD1 6 69675802 69797111 N Lethal Y N -0.30910201 28.97493778 1.94E-06 81.4 DM Methylmalonic aciduria and homocystinuria, cblF type, 277380 (3) LMF1 16 853634 981318 Y . Y N 1.115202505 94.13092551 1.15E-14 96.7 DM Lipase deficiency, combined, 246650 (3) LMNA 1 156082573 156140089 Y Lethal Y N -0.884130746 9.885975574 0.993449023 9 DM Emery-Dreifuss muscular dystrophy 2, AD, 181350 (3); Cardiomyopathy, dilated, 1A, 115200 (3); Lipodystrophy, familial partial, 2, 151660 (3); Emery-Dreifuss muscular dystrophy 3, AR, 616516 (3); Charcot-Marie-Tooth disease, type 2B1, 605588 (3); Muscular dystrophy, congenital, 613205 (3); Muscular dystrophy, limb-girdle, type 1B, 159001 (3); Mandibuloacral dysplasia, 248370 (3); Hutchinson-Gilford progeria, 176670 (3); Restrictive dermopathy, lethal, 275210 (3); Heart-hand syndrome, Slovenian type, 610140 (3); Malouf syndrome, 212112 (3) LMNB1 5 126776623 126837020 Y . Y N -0.911427154 9.370839845 0.952857388 14.5 DM Leukodystrophy, adult-onset, autosomal dominant, 169500 (3) LMNB2 19 2427638 2456996 Y . Y N -0.154106795 38.46153846 0.995599597 8.2 DM {Lipodystrophy, partial, acquired, susceptibility to}, 608709 (3); ?Epilepsy, progressive myoclonic, 9, 616540 (3) LMO2 11 33858576 33892289 Y . Y N -0.065482771 44.7241998 0.753952193 23 . Leukemia, acute T-cell (2) LMO4 1 87328468 87348923 Y . Y N -0.133967403 39.81015223 0.816026561 21.1 . . LMO7 13 75620434 75859870 Y . Y N 0.927527346 91.6710077 0.041624251 48.1 . . LMTK2 7 98106885 98209633 Y . Y N -0.044635416 46.24645482 0.994402283 8.7 . . LMX1A 1 165201867 165356715 Y . Y N -0.670362473 14.74214273 0.901260324 17.7 . . LMX1B 9 126614443 126701032 Y . Y N -0.685368969 14.36592001 0.82273227 20.9 DM Nail-patella syndrome, 161200 (3) LOR 1 153259700 153262122 N Subviable Y N . . 0.179479999 39.4 DM Vohwinkel syndrome with ichthyosis, 604117 (3) LOX 5 122063195 122078285 Y . Y N 0.064133998 54.51756671 0.979357774 11.9 DFP . LPAR1 9 110873263 111038458 Y . Y N -0.316758145 28.47137813 0.001418981 63.3 DFP . LPAR4 X 78747709 78757094 Y . Y N -0.01663693 48.16808474 0.043035979 47.8 . . LPCAT1 5 1456480 1523977 Y . Y N -0.425323657 23.32002084 0.813682374 21.2 . . LPIN1 2 11677595 11827409 Y . Y N -1.102402699 6.523123227 2.35E-05 75.8 DM Myoglobinuria, acute recurrent, autosomal recessive, 268200 (3) LPL 8 19901717 19967258 Y . Y N 0.315711326 71.46495341 3.34E-06 80.3 DM Lipoprotein lipase deficiency, 238600 (3); Combined hyperlipidemia, familial, 144250 (3); [High density lipoprotein cholesterol level QTL 11] (3) LPP 3 188153284 188890671 Y . Y N 0.333741319 72.50101291 0.582399908 27.9 DM Lipoma (3); Leukemia, acute myeloid, 601626 (3) LPPR4 1 99263953 99309590 Y . Y N -1.073634386 6.876193784 0.972616088 12.7 . . LRP1 12 57128493 57213351 Y Lethal Y N -5.969870795 0.052092377 1 0.1 DM? . LRP1B 2 140231423 142131701 Y . Y N -3.88898504 0.248885802 0.99999919 1.6 . . LRP2 2 169127109 169362685 Y . Y N -0.119589522 40.81148348 1 0.3 DM Donnai-Barrow syndrome, 222448 (3) LRP4 11 46856868 46918642 Y . Y N -2.120947806 1.429646351 0.100208804 43.1 DM Cenani-Lenz syndactyly syndrome, 212780 (3); Sclerosteosis 2, 614305 (3); ?Myasthenic syndrome, congenital, 17, 616304 (3) LRP5 11 68312609 68449275 Y . Y N -2.635288622 0.85084216 0.99835557 6.6 DM Osteoporosis-pseudoglioma syndrome, 259770 (3); [Bone mineral density variability 1], 601884 (3); Hyperostosis, endosteal, 144750 (3); van Buchem disease, type 2, 607636 (3); Osteosclerosis, 144750 (3); {Osteoporosis}, 166710 (3); Exudative vitreoretinopathy 4, 601813 (3); Osteopetrosis, autosomal dominant 1, 607634 (3) LRP6 12 12116025 12267012 Y . Y N -0.792561937 11.70920877 0.99997833 2.9 DM {Coronary artery disease, autosomal dominant, 2}, 610947 (3) LRPAP1 4 3506376 3532559 Y . Y N 0.506964925 80.73739654 0.006084306 57.2 DM Myopia 23, autosomal recessive, 615431 (3) LRPPRC 2 43886508 43996005 Y . Y N -1.93714237 1.817445158 0.000433778 67.5 DM Leigh syndrome, French-Canadian type, 220111 (3) LRRK2 12 40196744 40369285 Y . Y N -1.436632267 3.750651155 7.56E-14 96.2 DM {Parkinson disease 8}, 607060 (3) LSM1 8 38163321 38176730 N Subviable Y N -0.013918082 48.39381837 0.931276897 16.1 . . LSM10 1 36391238 36397892 Y . Y N -0.125507302 40.39474446 0.615647823 27.1 . . LSM11 5 157743695 157760709 Y . Y N -0.575693017 17.4856746 0.490844531 30.2 . . LSM14A 19 34172504 34229515 N Subviable Y N -0.27637172 30.86762748 0.383919741 33.2 . . LSM4 19 18306230 18323274 Y . Y N -0.202452202 35.31863171 0.667371394 25.6 . . LSR 19 35248330 35267964 Y . Y N -0.57060426 17.63037564 5.34E-08 86.9 . . LSS 21 46188141 46228824 N Lethal Y N -0.626805899 15.96341958 0.000604838 66.4 . Cataract 44, 616509 (3) LTBP1 2 32946972 33399509 Y . Y N -0.357884379 26.41083521 0.526234698 29.2 DM? . LTBP2 14 74498170 74612378 Y . Y N 0.505553621 80.65636395 0.018734688 52 DM Glaucoma 3, primary congenital, D, 613086 (3); Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, 251750 (3); Weill-Marchesani syndrome 3, recessive, 614819 (3) LTBP4 19 40592883 40629818 Y . Y N . . 0.990358736 9.9 DM Cutis laxa, autosomal recessive, type IC, 613177 (3) LTN1 21 28928144 28992956 Y . Y N -1.356346508 4.242634717 0.83271401 20.5 FTV . LUZP1 1 23084023 23177808 Y . Y N -0.263634698 31.62586097 0.287846256 36 . . LY6E 8 143017982 143023832 Y . Y N 0.329462031 72.26949123 0.733420182 23.6 . . LYPD3 19 43460787 43465660 N Subviable Y N 0.29496479 70.19737223 9.93E-09 88.9 . . LYPD6 2 149329985 149474148 N Subviable Y N 0.277896289 69.16131273 0.000624826 66.3 . . LZTR1 22 20979462 20999038 Y . Y N -2.189825079 1.296521387 3.38E-52 100 . {Schwannomatosis-2, susceptibility to}, 615670 (3); Noonan syndrome 10, 616564 (3) M6PR 12 8940363 8949955 Y . Y N -0.357145068 26.46871563 0.713025782 24.3 . . MAB21L2 4 150581922 150584693 Y . Y N -0.318672489 28.34982925 0.803779159 21.5 . Microphthalmia, syndromic 14, 615877 (3) MACF1 1 39081316 39487177 Y . Y N -3.521732718 0.370434682 1 0.1 DP . MAD1L1 7 1815793 2233243 Y . Y N 0.200600728 64.42090641 2.04E-10 92.5 DFP Lymphoma, somatic (3); Prostate cancer, somatic, 176807 (3) MAD2L1 4 120055608 120067074 Y . Y N -0.230550154 33.7153441 0.013167455 53.8 DM . MAD2L2 1 11674480 11691650 Y . Y N -0.184574695 36.47624009 0.202505866 38.7 . . MADD 11 47269161 47330031 Y . Y N -2.124735991 1.418070267 0.000901823 65.1 DM? Glutaric acidemia IIB, 231680 (3) MAEA 4 1289851 1340147 Y Lethal Y N -0.925476769 9.133530127 0.844858361 20.1 . . MAF 16 79585843 79600714 Y . Y N -0.305580815 29.14857904 0.429001156 32 DM Cataract 21, multiple types, 610202 (3); Ayme-Gripp syndrome, 601088 (3) MAFB 20 40685848 40689240 Y . Y N -0.229593003 33.74428431 . . DM Multicentric carpotarsal osteolysis syndrome, 166300 (3) MAFG 17 81918270 81927714 Y . Y N 0.016094318 50.71482318 0.625915691 26.8 . . MAGEL2 15 23643544 23647841 Y . Y N . . 0.922411269 16.6 . Schaaf-Yang syndrome, 615547 (3) MAGI2 7 78017057 79453574 Y . Y N -1.797484814 2.199455924 0.883174387 18.4 DM . MAGOH 1 53226892 53238610 Y . Y N 0.030143764 51.8087631 0.747938336 23.2 . . MAML1 5 179732850 179796511 Y . Y N 0.08901196 56.35237599 0.998362056 6.6 . . MAN1A2 1 117367449 117528872 Y . Y N -0.553028587 18.12235921 0.996263145 7.9 DM? . MAP1B 5 72107234 72209570 Y . Y N -1.5192828 3.247091509 0.999986248 2.7 . . MAP2K1 15 66386817 66492312 Y . Y N -0.395617806 24.63390635 0.99450127 8.6 DM Cardiofaciocutaneous syndrome 3, 615279 (3) MAP2K4 17 12020824 12143830 Y . Y N -0.397532576 24.5297216 0.99700255 7.5 DFP . MAP2K5 15 67542709 67807123 Y . Y N -0.641306922 15.65086531 0.475918461 30.7 . . MAP2K7 19 7903843 7914478 Y . Y N -0.685368969 14.36592001 0.985719994 10.8 DP . MAP3K1 5 56815574 56896152 Y . Y N -1.188632294 5.683857151 0.998072118 6.9 DM 46XY sex reversal 6, 613762 (3) MAP3K11 11 65597755 65615382 Y . Y N -0.402664819 24.22874342 0.170283101 39.7 . . MAP3K12 12 53479669 53500063 Y . Y N -0.959016857 8.583666146 0.999981813 2.8 . . MAP3K3 17 63622415 63696303 Y . Y N -0.3662558 26.08091683 0.999526987 5.1 . . MAP3K4 6 160991727 161117385 Y . Y N -1.45212241 3.6464664 0.999991911 2.4 . . MAP3K7 6 90513573 90587045 Y Lethal Y N -0.986462395 8.103258668 0.998336232 6.7 . . MAP4K4 2 101696850 101894689 Y . Y N -0.514404546 19.65619031 0.999998979 1.7 . . MAP6 11 75586918 75669120 Y . Y N 0.079291193 55.62887075 0.013166916 53.8 DM . MAPK1 22 21754500 21867680 Y . Y N -0.079531963 43.66498813 0.981866086 11.4 DM? . MAPK14 6 36027677 36111236 Y . Y N 0.317324799 71.58071424 0.997467188 7.3 . . MAPK6 15 51952106 52067372 Y . Y N -1.068850428 6.928286161 0.533146359 29.1 . . MAPK7 17 19377721 19383544 Y . Y N -1.199139457 5.597036523 0.232913565 37.6 . . MAPK8IP1 11 45885651 45906465 Y . Y N -0.738695505 12.9420617 0.999000973 5.9 DM {Diabetes mellitus, noninsulin-dependent}, 125853 (3) MAPK8IP3 16 1706183 1770317 Y . Y N -3.412855658 0.422527059 0.999999971 0.9 . . MAPKAP1 9 125437393 125707234 Y Lethal Y N -0.320432866 28.29194883 0.999736598 4.5 DM . MARCH5 10 92291163 92353964 Y . Y N -0.118004239 40.88093998 0.898062229 17.8 . . MARCKS 6 113857362 113863471 Y . Y N . . 0.26649006 36.6 . . MARCKSL1 1 32333832 32336379 Y . Y N 0.005872186 49.93922556 0.653774932 25.9 . . MARK2 11 63838928 63911019 Y . Y N -1.202156071 5.539156103 0.999900855 3.8 . . MARK3 14 103385392 103503831 Y . Y N -0.483435313 20.83695086 6.11E-05 73.3 . . MASP1 3 187217285 187292022 N Subviable Y N 0.590122987 83.839787 9.74E-06 78.1 DM 3MC syndrome 1, 257920 (3) MASTL 10 27154824 27186924 Y . Y N -0.174702562 37.10134861 1.08E-08 88.8 DM ?Thrombocytopenia-2, 188000 (3) MAT2A 2 85539165 85545280 N Lethal Y N -0.524128337 19.25102738 0.733230032 23.7 . . MAX 14 65006174 65102695 Y . Y N -0.03259986 47.11466111 0.951898293 14.6 DM {Pheochromocytoma, susceptibility to}, 171300 (3) MB 22 35606764 35637951 Y . Y N -0.20053791 35.44596863 0.337840558 34.6 . . MBD3 19 1573596 1592801 Y . Y N -1.009930576 7.727035944 0.91932388 16.7 DM? . MBD4 3 129430944 129440179 Y . Y N 0.201252515 64.4614227 1.70E-06 81.6 DM . MBD5 2 148021011 148516971 Y . Y N -1.991689045 1.661168027 0.999852333 4.1 DM Mental retardation, autosomal dominant 1, 156200 (3) MBD6 12 57520710 57530148 N Lethal Y N 0.140729912 60.23036407 0.9636575 13.6 DM? . MBNL2 13 97221434 97394120 N . Y N -0.520298739 19.46518493 0.900896117 17.7 . . MBOAT7 19 54173412 54189882 Y Subviable Y N -0.364494105 26.16194941 0.046319589 47.4 . . MBTD1 17 51177425 51260163 Y . Y N -0.130139339 40.0821902 0.995179972 8.4 . . MBTPS1 16 84053761 84116906 Y . Y N -1.451169671 3.663830526 0.131749475 41.5 . . MC2R 18 13882044 13915707 Y . Y N 0.26862913 68.62881287 0.057447457 46.2 DM Glucocorticoid deficiency, due to ACTH unresponsiveness, 202200 (3) MCL1 1 150574551 150579738 Y . Y N 0.055674233 53.76512126 0.950092967 14.7 DFP . MCM10 10 13161554 13211104 Y . Y N 1.386467989 96.31880535 5.09E-11 93.4 . . MCM2 3 127598223 127622436 Y . Y N -1.105131741 6.488394976 0.50903812 29.7 . . MCM3 6 52264009 52284881 Y . Y N -0.248776638 32.52300747 6.37E-07 83.3 . . MCM3AP 21 46235126 46286297 Y . Y N -0.523673189 19.27996759 0.83736665 20.4 DP . MCM4 8 47960185 47978160 Y . Y N -0.792837672 11.70342073 0.000301842 68.6 DM Natural killer cell and glucocorticoid deficiency with DNA repair defect, 609981 (3) MCM5 22 35400063 35425430 Y . Y N 0.332784162 72.46628466 0.563692507 28.4 FP . MCM6 2 135839626 135876426 Y . Y N 0.103865588 57.49840829 0.99848202 6.6 . Lactase persistence/nonpersistence, 223100 (3) MCM7 7 100092728 100101940 Y . Y N -0.789015119 11.76130115 1.46E-13 96 . . MCM9 6 118813442 118935162 Y . Y N . . 0.003917828 59.2 DM? Ovarian dysgenesis 4, 616185 (3) MCOLN3 1 85018082 85048499 Y . Y N -0.09614756 42.3337385 3.78E-07 84.2 . . MCPH1 8 6406592 6648504 Y . Y N 1.939483012 98.44880477 5.17E-18 98.1 DM Microcephaly 1, primary, autosomal recessive, 251200 (3) MCRS1 12 49556544 49568153 N Lethal Y N -0.873909868 10.10013312 0.066535626 45.4 . . MCU 10 72692131 72887694 N Lethal Y N -0.17611458 36.99137582 0.980775509 11.6 . . MDFI 6 41636882 41654246 Y . Y N 0.068766772 54.77802859 0.144418737 40.8 . . MDH1 2 63588609 63607197 Y . Y N -0.431218644 23.11743937 0.982634617 11.3 FP . MDK 11 46380756 46383837 N Subviable Y N -0.0579797 45.26827574 0.022432784 51.1 . . MDM2 12 68808172 68850686 Y . Y N -0.649767575 15.39040343 0.995410848 8.3 DM? {Accelerated tumor formation, susceptibility to}, 614401 (3) MDM4 1 204516379 204558120 Y . Y N -0.27637172 30.86762748 0.998569578 6.4 DFP . MDN1 6 89642499 89819723 Y . Y N -1.20812975 5.481275684 0.999999999 0.5 DM? . MECOM 3 169083499 169663618 Y . Y N -0.289969609 30.0688777 0.999085313 5.8 DM 3q21q26 syndrome (1) MECP2 X 154021573 154137103 Y . Y N 0.21817215 65.5669387 0.698089048 24.7 DM Rett syndrome, 312750 (3); Mental retardation, X-linked, syndromic 13, 300055 (3); Rett syndrome, preserved speech variant, 312750 (3); Encephalopathy, neonatal severe, 300673 (3); {Autism susceptibility, X-linked 3}, 300496 (3); Mental retardation, X-linked syndromic, Lubs type, 300260 (3); Rett syndrome, atypical, 312750 (3) MECR 1 29192873 29230942 Y . Y N 0.187052315 63.62794467 0.003603132 59.5 . . MED1 17 39404285 39451286 Y . Y N -2.321140461 1.105516004 0.999990934 2.5 . . MED11 17 4731428 4733610 N Lethal Y N 0.208455225 64.9591943 7.55E-06 78.8 . . MED12 X 71118556 71142454 Y . Y N -1.562216068 3.009781791 0.999999999 0.6 DM Opitz-Kaveggia syndrome, 305450 (3); Lujan-Fryns syndrome, 309520 (3); Ohdo syndrome, X-linked, 300895 (3) MED21 12 27022546 27066343 Y . Y N -0.126464329 40.30213579 0.0580451 46.2 . . MED22 9 133338323 133348131 Y . Y N -0.089753398 42.80835793 0.00632214 57 . . MED23 6 131573966 131628229 Y . Y N -1.562216068 3.009781791 0.150657691 40.6 DM Mental retardation, autosomal recessive 18, 614249 (3) MED24 17 40019097 40061215 Y . Y N -1.182219976 5.77067778 8.99E-09 89 . . MED25 19 49818279 49838816 N Lethal Y N -0.061200445 45.0136019 0.001129877 64.2 DM ?Charcot-Marie-Tooth disease, type 2B2, 605589 (3); Basel-Vanagait-Smirin-Yosef syndrome, 616449 (3) MED28 4 17614631 17634105 N Lethal Y N -0.236138921 33.29860508 0.007852264 56 . . MED30 8 117520713 117540262 Y . Y N 0.306952505 70.86878509 0.60654151 27.3 . . MED31 17 6643315 6651634 Y . Y N -0.03642736 46.82525901 0.000283388 68.8 . . MEF2A 15 99565417 99716466 Y . Y N 0.033165214 52.10395323 0.737169983 23.5 DM {Coronary artery disease, autosomal dominant, 1}, 608320 (3) MEF2C 5 88717117 88904257 Y . Y N -0.455642657 22.04665162 0.004246174 58.9 DM Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, 613443 (3); Chromosome 5q14.3 deletion syndrome, 613443 (4) MEFV 16 3242028 3256627 Y . Y N 1.347988244 96.09307171 1.12E-08 88.8 DM Familial Mediterranean fever, AR, 249100 (3); Familial Mediterranean fever, AD, 134610 (3) MEGF8 19 42325609 42378769 Y . Y N -1.34465474 4.364183597 0.973137204 12.6 DM Carpenter syndrome 2, 614976 (3) MEIS1 2 66433452 66573869 Y . Y N -0.167654501 37.52966371 0.990885197 9.8 DM? . MEMO1 2 31865060 32011230 N Lethal Y N 0.011461629 50.36754066 0.876156694 18.8 . . MEN1 11 64803510 64811294 Y . Y N -0.622471401 16.11390866 0.999190001 5.7 DM Multiple endocrine neoplasia 1, 131100 (3); Carcinoid tumor of lung (3); Parathyroid adenoma, somatic (3); Lipoma, somatic (3); Angiofibroma, somatic (3); Adrenal adenoma, somatic (3) MEOX2 7 15611212 15686812 Y . Y N 0.235747143 66.55090583 0.685234718 25 DM? . MEP1B 18 32185069 32220404 Y . Y N 0.464011037 79.02992418 6.31E-21 98.9 DM? . MESP1 15 89748661 89751310 Y . Y N . . 0.000120662 71.3 . . MESP2 15 89760591 89778754 Y . Y N . . 0.011409557 54.3 DM Spondylocostal dysostosis 2, autosomal recessive, 608681 (3) MEST 7 130486171 130506296 Y . Y N -0.152648436 38.52520692 0.997526693 7.2 DM . MET 7 116672390 116798386 Y . Y N -0.449305125 22.31868959 0.996412864 7.8 DM . METAP2 12 95473520 95515839 Y . Y N 0.21515114 65.34120507 0.906382727 17.5 . . METTL16 17 2405562 2511891 N Lethal Y N -0.297923775 29.57689414 0.99728942 7.4 . . MEX3C 18 51174550 51218304 Y . Y N -0.347727532 26.88545465 0.946417958 15.1 . . MFN1 3 179347692 179394931 Y . Y N -0.555747173 18.05869074 0.01903819 52 . . MFN2 1 11980181 12013514 Y . Y N -1.513506522 3.270243677 0.999816094 4.2 DM Charcot-Marie-Tooth disease, type 2A2, 609260 (3); Hereditary motor and sensory neuropathy VIA, 601152 (3) MFSD2A 1 39955112 39969968 Y Subviable Y N -0.43202169 23.08849916 0.91767122 16.8 FP Microcephaly 15, primary, autosomal recessive, 616486 (3) MGAT1 5 180790541 180815652 Y . Y N -0.296966779 29.62319847 0.690362903 24.9 DFP . MGAT2 14 49620795 49623481 Y . Y N -0.190967704 36.11159345 0.955031701 14.3 DM Congenital disorder of glycosylation, type IIa, 212066 (3) MGEA5 10 101784443 101818465 N . Y N -1.056713082 7.119291544 0.714103542 24.2 DP . MGRN1 16 4616493 4690974 Y . Y N -0.756275965 12.46165422 0.450177891 31.4 . . MIA3 1 222618086 222668012 Y . Y N 0.921759382 91.53209469 0.471388106 30.8 DP . MIB1 18 21704957 21870957 Y . Y N -2.169339022 1.331249638 1.00E-44 100 DM Left ventricular noncompaction 7, 615092 (3) MIB2 1 1615415 1630610 N . Y N 0.557075928 82.6937547 0.000158543 70.5 . . MIS18A 21 32268219 32279069 Y . Y N -0.115133273 41.12403774 0.051721963 46.8 . . MITF 3 69739435 69968337 Y . Y N -0.330654223 27.71314464 0.997810644 7.1 DM Waardenburg syndrome, type 2A, 193510 (3); Waardenburg syndrome/ocular albinism, digenic, 103470 (3); Tietz albinism-deafness syndrome, 103500 (3); {Melanoma, cutaneous malignant, susceptibility to, 8}, 614456 (3) MIXL1 1 226223618 226227054 Y . Y N 0.087449076 56.25976732 0.042890267 47.9 . . MKKS 20 10401009 10434222 Y . Y N -0.132705618 39.90854894 4.24E-09 89.8 DM McKusick-Kaufman syndrome, 236700 (3); Bardet-Biedl syndrome 6, 605231 (3) MKL1 22 40410281 40636702 Y . Y N 0.326393551 72.10163802 0.540324173 28.9 DM? Megakaryoblastic leukemia, acute (3) MKL2 16 14071321 14266773 Y . Y N -1.607112281 2.801412282 0.999938116 3.4 DM? . MKS1 17 58205437 58219605 Y . Y N 0.376692521 74.76992533 3.97E-09 89.8 DM Meckel syndrome 1, 249000 (3); Bardet-Biedl syndrome 13, 615990 (3) MLLT1 19 6210379 6279948 Y . Y N -0.780997286 11.9754587 0.991457208 9.6 . . MLLT3 9 20341665 20622543 Y Lethal Y N -0.999554985 7.865948949 0.99559105 8.2 DM . MLLT4 6 167826922 167972023 Y . Y N -1.831102461 2.112635295 0.999998022 1.9 DM . MLPH 2 237485428 237555318 Y . Y N 1.761528009 98.08994617 0.00125355 63.8 DM Griscelli syndrome, type 3, 609227 (3) MLST8 16 2204248 2209416 Y . Y N -0.698460933 13.95496903 0.629654086 26.7 . . MMP14 14 22836557 22849027 Y . Y N -0.274305776 31.04126874 0.987123657 10.6 DM ?Winchester syndrome, 277950 (3) MN1 22 27748277 27801498 Y . Y N -1.56876551 2.963477456 . . . Meningioma, 607174 (3) MNAT1 14 60734742 60969953 Y . Y N 0.061263744 54.22237657 3.97E-12 94.7 . . MNS1 15 56421544 56465137 Y . Y N -0.504181931 20.02083695 5.53E-14 96.3 . . MNT 17 2384060 2401118 Y . Y N -0.892591249 9.729698443 0.96048046 13.9 . . MNX1 7 156994051 157010651 Y . Y N . . . . DM Currarino syndrome, 176450 (3) MOCS1 6 39899578 39934551 Y . Y N 0.047365707 53.22683336 0.000969834 64.8 DM Molybdenum cofactor deficiency A, 252150 (3) MOCS2 5 53095679 53110063 N Lethal Y N 0.372716004 74.56155583 0.04045185 48.3 DM Molybdenum cofactor deficiency B, 252160 (3) MOGS 2 74461057 74465410 N Lethal Y N 0.135791432 59.90044568 3.25E-09 90 DM Congenital disorder of glycosylation, type IIb, 606056 (3) MORC3 21 36320189 36386148 Y . Y N -0.931871552 9.011981247 0.999874192 4 . . MORF4L1 15 78810487 78898133 Y . Y N -0.272697012 31.12808937 0.802941003 21.5 . . MOSPD3 7 100612102 100615384 Y . Y N 0.296728366 70.30734503 0.001606944 62.8 . . MPI 15 74890005 74902219 Y . Y N 0.302467839 70.66620362 0.000142828 70.8 DM Congenital disorder of glycosylation, type Ib, 602579 (3) MRC1 10 17809344 17911170 Y . Y N . . 0.975871402 12.3 DP . MRE11A 11 94415578 94493908 Y . Y N -0.740458971 12.87839324 0.001158833 64.1 DM Ataxia-telangiectasia-like disorder, 604391 (3) MRM1 17 36601572 36608971 N . Y N 0.331523457 72.40840424 5.93E-05 73.4 . . MRPL51 12 6491886 6493841 N Lethal Y N 0.116504775 58.48816345 0.066747198 45.4 . . MRPS25 3 15042460 15065335 N Lethal Y N 0.405450329 76.1185391 0.545528804 28.7 . . MRPS5 2 95087207 95149434 N Lethal Y N 0.137401468 60.01041848 0.006338704 57 . . MSGN1 2 17816496 17817101 Y . Y N -0.281157211 30.57243734 0.19109733 39 . . MSI2 17 57255851 57684685 Y . Y N -0.331764245 27.65526422 0.963858042 13.6 . . MSMO1 4 165327623 165343160 Y . Y N 0.26384649 68.31047057 0.137137231 41.2 DM . MST1R 3 49887002 49903873 Y . Y N -1.342177099 4.387335764 1.69E-20 98.8 FTV . MSX1 4 4859666 4863936 Y Lethal Y N 0.150343606 61.02332581 0.275361731 36.3 DM Tooth agenesis, selective, 1, with or without orofacial cleft, 106600 (3); Orofacial cleft 5, 608874 (3); Ectodermal dysplasia 3, Witkop type, 189500 (3) MTA2 11 62593214 62601840 Y . Y N -1.239675733 5.191873589 0.978013018 12 . . MTAP 9 21802543 21937651 Y . Y N -0.519341466 19.49991318 0.000179316 70.1 DM Diaphyseal medullary stenosis with malignant fibrous histiocytoma, 112250 (3) MTBP 8 120445400 120542133 Y . Y N -0.12968435 40.12849453 1.71E-07 85.4 . . MTCH2 11 47617315 47642623 Y Lethal Y N 0.418691306 76.76679979 0.166788403 39.9 DP . MTERF3 8 96239398 96261610 Y . Y N . . . . . . MTERF4 2 241072169 241102332 Y . Y N . . . . . . MTF1 1 37809567 37859620 Y Lethal Y N -0.798722345 1.16E+01 0.991394717 9.6 DM? . MTF2 1 93079235 93139081 Y . Y N -0.539936486 18.57961452 0.994599741 8.6 . . MTFMT 15 65001512 65029639 Y . Y N 0.693589967 86.75117208 0.00021633 69.6 DM Combined oxidative phosphorylation deficiency 15, 614947 (3) MTHFD1 14 64388031 64463457 Y . Y N -1.136240335 6.175840713 0.605609114 27.3 DM . MTHFD1L 6 150865549 151101887 Y . Y N -0.56295511 17.83295711 0.082519529 44.3 DM . MTHFD2 2 74198562 74217565 Y . Y N -0.170372579 37.39075071 0.151202634 40.5 . . MTM1 X 150568619 150673322 Y . Y N -0.142274465 39.26028824 0.999351774 5.4 DM Myotubular myopathy, X-linked, 310400 (3) MTMR2 11 95832882 95925315 Y . Y N -0.059589522 45.15830295 0.2127686 38.3 DM Charcot-Marie-Tooth disease, type 4B1, 601382 (3) MTOR 1 11106535 11262507 Y . Y N -4.044939405 0.191005383 1 0.2 DFP . MTR 1 236795281 236903981 Y . Y N -0.619159379 16.20072929 2.84E-07 84.6 DM Homocystinuria-megaloblastic anemia, cblG complementation type, 250940 (3); {Neural tube defects, folate-sensitive, susceptibility to}, 601634 (3) MTRF1L 6 152987362 153002685 Y . Y N 0.064133998 54.51756671 4.40E-07 83.9 . . MTTP 4 99563761 99623999 Y . Y N -0.016182386 48.20281299 0.012583367 54 DM . MUS81 11 65857126 65867653 Y . Y N -0.135424672 39.71175551 1.58E-06 81.8 . . MUSK 9 110668771 110801579 Y . Y N 0.149840497 60.9943856 8.17E-05 72.5 DM Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, 616325 (3); Fetal akinesia deformation sequence, 208150 (3) MUT 6 49430360 49463191 Y . Y N -0.154106795 38.46153846 5.92E-18 98.1 DM Methylmalonic aciduria, mut(0) type, 251000 (3) MYB 6 135181315 135219173 Y . Y N -0.599809597 16.72744111 0.881847511 18.5 DM? {T-cell acute lymphoblastic leukemia} (3) MYBBP1A 17 4538897 4555631 Y Lethal Y N 3.056307132 99.55432077 1.69E-17 98 DM? . MYBL2 20 43667019 43716496 Y . Y N -0.089449983 42.83729814 0.992108233 9.4 DFP . MYBPHL 1 109292365 109307041 N Subviable Y N 1.144908804 94.47241998 0.004618441 58.5 . . MYC 8 127735434 127741434 Y . Y N -0.045540401 46.17121028 . . DM Myoclonus, familial cortical, 614937 (3) MYCBP2 13 77044655 77327050 Y . Y N . . 1 0.1 DM? . MYCN 2 15940564 15947007 Y . Y N -0.541850891 18.51015801 0.913862108 17 DM Feingold syndrome, 164280 (3) MYF5 12 80716912 80719673 Y . Y N -0.597245112 16.75638132 0.001903405 62 . . MYF6 12 80707498 80709474 Y . Y N 0.734785964 87.69462291 0.076286043 44.7 DM Myopathy, centronuclear, 3, 614408 (3) MYH10 17 8474205 8630761 Y . Y N -3.112342381 0.561440065 0.99999755 2 . . MYH11 16 15703135 15857033 Y . Y N -1.706957234 2.419401516 0.998956488 5.9 DM Aortic aneurysm, familial thoracic 4, 132900 (3) MYH6 14 23381990 23408277 Y . Y N -1.079082102 6.806737281 1.28E-17 98 DM Cardiomyopathy, hypertrophic, 14, 613251 (3); Atrial septal defect 3, 614089 (3); Cardiomyopathy, dilated, 1EE, 613252 (3); {Sick sinus syndrome 3}, 614090 (3) MYH9 22 36281281 36388018 Y . Y N -2.938564164 0.625108526 1 0.4 DM May-Hegglin anomaly, 155100 (3); Fechtner syndrome, 153640 (3); Sebastian syndrome, 605249 (3); Deafness, autosomal dominant 17, 603622 (3); Epstein syndrome, 153650 (3); Macrothrombocytopenia and progressive sensorineural deafness, 600208 (3) MYL1 2 210290150 210315190 Y . Y N -0.01663693 48.16808474 0.063386374 45.7 . . MYL2 12 110910819 110920722 Y . Y N -0.177071645 36.92770736 0.016813134 52.5 DM Cardiomyopathy, hypertrophic, 10, 608758 (3) MYL7 7 44138864 44141332 Y . Y N 0.020878273 51.13735023 3.65E-06 80.2 . . MYLPF 16 30370934 30377991 Y . Y N -0.012004394 48.53851942 0.602001132 27.4 . . MYO18A 17 29073517 29180412 N Lethal Y N -0.742511375 12.82051282 0.999417504 5.3 . . MYO18B 22 25742144 26031041 Y . Y N 2.688328956 99.29385889 2.61E-15 97 DP Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, 616549 (3) MYO1E 15 59132434 59372900 Y . Y N -1.59293208 2.847716617 0.047977893 47.2 DM Glomerulosclerosis, focal segmental, 6, 614131 (3) MYO5A 15 52307283 52529050 Y . Y N -1.508354155 3.31075997 0.992129667 9.4 DM Griscelli syndrome, type 1, 214450 (3) MYOCD 17 12665890 12768949 Y . Y N 0.349860396 73.35764311 0.934596479 15.9 DFP . MYOG 1 203083132 203086036 Y . Y N 0.567799588 82.98894484 0.74001206 23.4 . . MYSM1 1 58654739 58700092 Y . Y N -0.218914427 34.39833304 0.020231645 51.6 . . MYT1 20 64151791 64242253 Y . Y N -0.801156303 11.5471436 0.999871802 4 DM . N6AMT1 21 28872191 28885371 Y . Y N 0.849250529 90.19505701 0.009871785 55 . . NABP2 12 56222015 56229854 Y Lethal Y N -0.117047237 40.96776061 0.956804648 14.2 . . NACA 12 56712428 56731628 Y . Y N 1.851751927 98.31567981 0.020338217 51.6 . . NACC1 19 13118103 13141141 Y . Y N -0.709793585 13.64241477 0.964946936 13.5 . . NAE1 16 66802875 66873256 N Lethal Y N -0.750983967 12.57162702 1.90E-07 85.2 . . NAGS 17 44004546 44009063 Y . Y N -0.360819318 26.28349829 4.89E-05 74 DM N-acetylglutamate synthase deficiency, 237310 (3) NALCN 13 101053776 101416492 Y . Y N -2.750047973 0.75823349 0.000169004 70.3 DM? Hypotonia, infantile, with psychomotor retardation and characteristic facies, 615419 (3); Congenital contractures of the limbs and face, hypotonia, and developmental delay, 616266 (3) NAMPT 7 106248285 106286326 Y Lethal Y N -0.288660263 30.16727441 0.982566484 11.4 DFP . NANOG 12 7787794 7799141 Y . Y N 0.182269088 63.36169474 0.911618852 17.2 . . NAPA 19 47487637 47515240 Y . Y N -0.345813209 26.95491115 0.974655185 12.4 . . NARFL 16 729753 741329 Y . Y N 0.915164754 91.39318169 1.05E-05 77.9 . . NASP 1 45583846 45618904 Y . Y N -0.452466161 22.16241246 0.4702163 30.9 . . NAT10 11 34105602 34147670 Y . Y N -0.196106007 35.7180066 1.05E-13 96.1 DM? . NBEA 13 34942287 35673022 Y . Y N -2.564951658 0.926086705 1 0.2 DM . NBN 8 89933336 90003228 Y . Y N 0.626363014 84.95109105 1.74E-10 92.6 DM . NCAM1 11 112961247 113278436 Y . Y N . . . . DP . NCAPG2 7 158631311 158704829 Y . Y N -0.791881927 11.72078486 0.975711233 12.3 . . NCAPH 2 96335787 96373845 Y . Y N -0.082903775 43.369798 0.032163584 49.3 . . NCAPH2 22 50508216 50523472 Y . Y N 0.121590173 58.83544597 0.652832373 25.9 . . NCDN 1 35557473 35567274 Y . Y N -1.588700427 2.870868785 0.996735084 7.7 . . NCKAP1 2 182909115 183038858 Y . Y N -1.651459319 2.668287318 0.999999991 0.8 DM? . NCOA3 20 47501902 47656877 Y . Y N -0.876059948 10.02488858 0.999916718 3.6 DP . NCOA6 20 34689097 34825649 Y . Y N -1.654481344 2.645135151 0.990815417 9.8 . . NCOR1 17 16029157 16218185 Y . Y N -2.889730328 0.648260693 0.999999999 0.6 . . NCOR2 12 124324415 124567589 Y . Y N -1.97530893 1.719048446 0.999999722 1.3 . . NCS1 9 130172578 130237304 N Subviable Y N -0.013918082 48.39381837 0.947220876 15 DM . NCSTN 1 160343272 160358952 Y . Y N -1.070763711 6.899345951 0.999982343 2.8 DM Acne inversa, familial, 1, 142690 (3) NDEL1 17 8413131 8490411 Y . Y N 0.077226532 55.46680558 0.979221293 11.9 . . NDN 15 23685400 23687330 Y . Y N 0.131661109 59.52422296 0.470364294 30.8 . Prader-Willi syndrome, 176270 (3) NDRG3 20 36651766 36746078 Y . Y N -0.345813209 26.95491115 0.919621044 16.7 . . NDST1 5 150485818 150558211 Y . Y N -1.818342664 2.147363547 0.998138372 6.8 DM Mental retardation, autosomal recessive 46, 616116 (3) NDUFA13 19 19515736 19529054 Y . Y N 0.225374457 65.97210164 0.000121027 71.3 DM {Thyroid carcinoma, Hurthle cell}, 607464 (3) NDUFA5 7 123536997 123558255 Y . Y N 0.033970832 52.15025757 0.173963053 39.6 . . NDUFA8 9 122144058 122159819 N Lethal Y N -0.056065882 45.38982462 0.202476373 38.7 DM . NDUFAF7 2 37231631 37253403 Y . Y N 0.056782277 53.85194189 1.18E-11 94.2 . . NDUFB8 10 100523740 100530000 Y . Y N 0.287312299 69.73432888 0.35052858 34.2 . . NDUFS1 2 206114817 206159603 N Lethal Y N -1.345541675 4.346819471 3.97E-09 89.8 DM Mitochondrial complex I deficiency, 252010 (3) NDUFS3 11 47565336 47584562 Y . Y N -0.370236728 25.85518319 0.047137034 47.3 DM Leigh syndrome due to mitochondrial complex I deficiency, 256000 (3); Mitochondrial complex I deficiency, 252010 (3) NDUFS7 19 1383527 1395589 N Lethal Y N 0.241337169 66.9618568 0.750835829 23.1 DM Leigh syndrome, 256000 (3) NDUFV2 18 9102630 9134345 Y . Y N 0.021835061 51.22417086 0.007630223 56.2 DM Mitochondrial complex I deficiency, 252010 (3) NEB 2 151485336 151734487 Y . Y N 2.941372194 99.49644035 4.08E-17 97.8 DM Nemaline myopathy 2, autosomal recessive, 256030 (3) NEDD4 15 55826922 55993746 Y . Y N 0.199953224 64.36881403 6.44E-09 89.4 . . NEDD4L 18 58044367 58401540 Y Subviable Y N -0.676755502 14.5858656 0.999966646 3.1 DM . NEK1 4 169393275 169612629 Y . Y N 0.483959469 79.85182613 4.22E-12 94.7 DM Short-rib thoracic dysplasia 6 with or without polydactyly, 263520 (3) NEK7 1 198156963 198322420 Y . Y N -0.312126643 28.79550848 0.707657761 24.4 . . NEK8 17 28725897 28743455 Y . Y N -0.929002374 9.064073624 1.56E-06 81.8 DM ?Nephronophthisis 9, 613824 (3); ?Renal-hepatic-pancreatic dysplasia 2, 615415 (3) NEK9 14 75079353 75127344 Y . Y N -0.474019054 21.27684204 1.19E-06 82.3 . . NELFB 9 137255173 137273546 Y . Y N -0.919734436 9.220350755 0.748854269 23.2 . . NELL1 11 20669551 21575681 Y . Y N 1.018613082 92.99646929 2.17E-09 90.4 DP . NEMF 14 49782083 49853203 N Lethal Y N -1.192451557 5.660704984 0.981706446 11.5 . . NEO1 15 73051710 73305206 Y . Y N -1.997292644 1.655379985 0.99985462 4.1 . . NEUROD1 2 181673088 181680876 Y . Y N 0.429063813 77.33981594 0.138071318 41.2 DM {Diabetes mellitus, noninsulin-dependent}, 125853 (3); Maturity-onset diabetes of the young 6, 606394 (3) NEUROD4 12 55019945 55030014 Y . Y N 0.285548454 69.68802454 0.140552619 41.1 . . NEUROG1 5 135534282 135535949 Y . Y N -0.175157533 37.05504428 5.14E-05 73.8 DM? . NEUROG2 4 112513516 112516172 Y . Y N 0.531239379 81.69242345 0.361612797 33.9 . . NEUROG3 10 69571698 69573238 Y . Y N 0.006828994 50.02025815 0.001116693 64.3 DM Diarrhea 4, malabsorptive, congenital, 610370 (3) NF1 17 31094927 31382116 Y . Y N -3.519844273 0.376222724 0.999999846 1.2 DM Neurofibromatosis, type 1, 162200 (3); Leukemia, juvenile myelomonocytic, 607785 (3); Neurofibromatosis, familial spinal, 162210 (3); Neurofibromatosis-Noonan syndrome, 601321 (3); Watson syndrome, 193520 (3) NF2 22 29603556 29698598 Y . Y N -0.646895469 15.48880014 0.999923343 3.6 DM Neurofibromatosis, type 2, 101000 (3); Meningioma, NF2-related, somatic, 607174 (3); Schwannomatosis, 162091 (3) NFASC 1 204828651 205022822 Y . Y N -1.388271535 4.01111304 0.998762678 6.2 . . NFAT5 16 69565094 69704666 Y . Y N -2.438509483 1.018695375 0.999990942 2.5 DM? . NFATC1 18 79395856 79529325 Y . Y N 0.263809768 68.25259015 0.969219888 13.1 DM . NFATC3 16 68084751 68229259 Y Lethal Y N -0.788059657 11.7960294 0.998062458 6.9 . . NFE2 12 54292111 54301121 Y . Y N -0.450856222 22.22608092 0.688914374 24.9 . . NFE2L1 17 48048329 48061487 Y . Y N -1.004995105 7.790704405 0.998123949 6.8 . . NFIA 1 60865259 61462793 Y . Y N -0.389874437 24.9580367 0.999555166 5 DM . NFIB 9 14081843 14398983 Y . Y N -0.808294265 11.39665451 0.990809167 9.8 . . NFIX 19 12995608 13098796 Y . Y N -0.629172944 15.89396307 0.989066455 10.1 DM Sotos syndrome 2, 614753 (3); Marshall-Smith syndrome, 602535 (3) NFKB1 4 102501329 102617302 Y . Y N -0.655053041 15.20518609 0.994260375 8.7 DFP Immunodeficiency, common variable, 12, 616576 (3) NFKBIA 14 35401511 35404749 Y . Y N -0.399291813 24.48341726 0.979352026 11.9 DM Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, 612132 (3) NFKBIZ 3 101827991 101861022 Y . Y N 0.142185434 60.35191295 0.999616951 4.9 . . NFYA 6 41072945 41099976 Y . Y N -0.312126643 28.79550848 0.022059271 51.2 . . NGF 1 115285918 115338236 Y . Y N 0.130704421 59.46634254 0.704368812 24.5 DM Neuropathy, hereditary sensory and autonomic, type V, 608654 (3) NGFR 17 49495293 49515017 Y Subviable Y N -0.36545112 26.11564508 0.238222215 37.4 DP . NGRN 15 90265659 90278141 Y . Y N 0.35116309 73.45025178 0.022406215 51.1 . . NHP2 5 178149460 178153967 Y . Y N 0.12592113 59.20588065 0.034261685 49 DM Dyskeratosis congenita, autosomal recessive 2, 613987 (3) NIP7 16 69339430 69343111 Y . Y N -0.229593003 33.74428431 0.603152383 27.4 . . NIPBL 5 36876759 37066413 Y . Y N -3.712394267 0.329918389 1 0.1 DM Cornelia de Lange syndrome 1, 122470 (3) NKX1-1 4 1402932 1406331 N . Y N . . 0.188420303 39 . . NKX2-1 14 36516392 36521149 Y . Y N -0.098213329 42.19482549 0.081926486 44.3 DM {Thyroid cancer, monmedullary, 1}, 188550 (3); Chorea, hereditary benign, 118700 (3); Choreoathetosis, hypothyroidism, and neonatal respiratory distress, 610978 (3) NKX2-2 20 21511010 21514026 Y . Y N 0.122244706 58.89332639 0.337334272 34.6 DM . NKX2-3 10 99532933 99536524 Y . Y N -0.26151962 31.75319789 0.802089179 21.6 DFP . NKX2-5 5 173232109 173235357 Y . Y N -0.018398956 48.03495977 0.858647741 19.6 DM Atrial septal defect 7, with or without AV conduction defects, 108900 (3); Tetrology of Fallot, 187500 (3); Hypothyroidism, congenital nongoitrous, 5, 225250 (3); Ventricular septal defect 3, 614432 (3); Hypoplastic left heart syndrome 2, 614435 (3); Conotruncal heart malformations, variable, 217095 (3) NKX3-2 4 13540830 13545050 Y . Y N . . 0.058492521 46.1 DM Spondylo-megaepiphyseal-metaphyseal dysplasia, 613330 (3) NKX6-1 4 84491987 84498450 Y . Y N . . 0.501554507 29.9 . . NLE1 17 35128753 35142315 Y . Y N 0.100843326 57.30161486 0.053987518 46.5 . . NLK 17 28041737 28196381 Y . Y N -0.425630209 23.29686867 0.998934347 6 . . NLRP3 1 247416156 247449108 Y . Y N -0.729942227 13.15621925 0.447262679 31.5 DM Familial cold-induced inflammatory syndrome 1, 120100 (3); Muckle-Wells syndrome, 191900 (3); CINCA syndrome, 607115 (3) NME1 17 51153536 51162428 Y . Y N 0.762888245 88.37182381 0.007774487 56.1 DM Neuroblastoma, 256700 (3) NME6 3 48293264 48301685 N Lethal Y N 0.741333534 87.88562829 9.22E-05 72.1 . . NMNAT1 1 9943428 9985501 Y . Y N 0.008742604 50.21705157 0.225291939 37.8 DM Leber congenital amaurosis 9, 608553 (3) NMNAT2 1 183248237 183418602 Y . Y N -0.665731542 14.86947966 0.943848445 15.3 . . NMT1 17 45051610 45109016 Y . Y N -0.443353128 22.55021126 0.998500521 6.5 . . NOA1 4 56963370 56978823 Y . Y N -0.150430658 38.69884818 0.000579557 66.6 . . NOBOX 7 144397240 144410227 N Subviable Y N . . 3.74E-05 74.6 DM Premature ovarian failure 5, 611548 (3) NOC3L 10 94333226 94362959 Y . Y N 0.110411687 58.00775598 1.14E-06 82.4 . . NODAL 10 70432315 70447951 Y . Y N 1.24422892 95.39271864 0.947214574 15 DM Heterotaxy, visceral, 5, 270100 (3) NOG 17 56593699 56595590 Y . Y N -0.001630854 49.29675291 0.682857448 25.1 DM Symphalangism, proximal, 185800 (3); Multiple synostoses syndrome 1, 186500 (3); Tarsal-carpal coalition syndrome, 186570 (3); Stapes ankylosis with broad thumb and toes, 184460 (3); Brachydactyly, type B2, 611377 (3) NOL8 9 92297358 92325636 N Lethal Y N 1.234469403 95.34641431 4.49E-08 87.1 . . NOS3 7 150990995 151014588 Y . Y N -0.651900167 15.33252301 2.21E-05 76 DFP . NOTCH1 9 136494444 136545862 Y . Y N -0.559891324 17.92556578 0.999999994 0.7 DM Aortic valve disease 1, 109730 (3); Adams-Oliver syndrome 5, 616028 (3) NOTCH2 1 119911553 120069626 Y . Y N -1.966945847 1.724836488 0.999999993 0.7 DM Alagille syndrome 2, 610205 (3); Hajdu-Cheney syndrome, 102500 (3) NOTO 2 73202258 73212513 Y . Y N . . . . . . NOV 8 119416306 119424353 Y . Y N 0.663576603 86.05081901 0.113896789 42.4 . . NOVA1 14 26443093 26597754 Y . Y N -0.73230344 13.09255079 0.977721706 12.1 . . NOVA2 19 45933734 45973546 Y . Y N -0.162065544 37.85379406 . . . . NPAS3 14 32934933 33804176 Y . Y N -0.779888867 12.015975 0.98054867 11.6 DM . NPC1 18 23506184 23586898 Y Subviable Y N -0.669636144 14.75950686 0.000213375 69.6 DM Niemann-Pick disease, type C1, 257220 (3); Niemann-Pick disease, type D, 257220 (3) NPEPPS 17 47522942 47623276 Y . Y N 0.151450703 61.09857035 0.99990592 3.7 . . NPHP3 3 132680609 132722442 Y . Y N -0.720388412 13.38774093 1.41E-09 90.9 DM Nephronophthisis 3, 604387 (3); Renal-hepatic-pancreatic dysplasia 1, 208540 (3); Meckel syndrome 7, 267010 (3) NPHS1 19 35825964 35869287 Y . Y N 0.400785852 75.85807721 7.72E-11 93.1 DM Nephrotic syndrome, type 1, 256300 (3) NPHS2 1 179550539 179575952 Y . Y N 0.131661109 59.52422296 0.008964142 55.3 DM Nephrotic syndrome, type 2, 600995 (3) NPLOC4 17 81556887 81648465 Y . Y N -0.091515106 42.70996122 0.998697458 6.3 . . NPM1 5 171387116 171411137 Y . Y N -0.418127104 23.56890664 0.959043977 14.1 DFP Leukemia, acute myeloid, somatic, 601626 (3) NPPC 2 231921820 231926403 Y . Y N 0.630550326 85.07263993 0.323065347 35.1 DM . NPR2 9 35792154 35809732 Y . Y N -1.349223015 4.306303178 0.991660782 9.5 DM Acromesomelic dysplasia, Maroteaux type, 602875 (3); Epiphyseal chondrodysplasia, Miura type, 615923 (3); Short stature with nonspecific skeletal abnormalities, 616255 (3) NPR3 5 32689070 32791724 Y . Y N -0.311972833 28.80708456 0.003099263 60.2 DP ?Hypertension, salt-resistant (1) NPRL3 16 84271 138860 Y . Y N . . 0.468162601 30.9 . . NR1D1 17 40092787 40100725 Y Subviable Y N -0.909360889 9.41714418 0.946085418 15.2 . . NR1D2 3 23945260 23980618 Y . Y N -0.278133044 30.72292643 0.63142178 26.6 . . NR2C2 3 14947584 15053600 Y . Y N -0.750026799 12.61793135 0.994140346 8.8 . . NR2F1 5 93583337 93594615 Y . Y N -0.480066954 20.97007582 . . DM Bosch-Boonstra-Schaaf optic atrophy syndrome, 615722 (3) NR2F2 15 96325938 96340263 Y . Y N -0.660143486 15.0141807 0.91670423 16.9 DFP Congenital heart defects, multiple types, 4, 615779 (3) NR3C1 5 143277931 143435512 Y . Y N -0.562293597 17.86189732 0.311618466 35.4 DM Glucocorticoid resistance, 615962 (3) NR3C2 4 148078762 148444698 Y . Y N -0.433633853 23.03640678 0.925088553 16.4 DM Pseudohypoaldosteronism type I, autosomal dominant, 177735 (3); Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy, 605115 (3) NR4A2 2 156324432 156342348 Y . Y N -0.423561627 23.40105342 0.991432866 9.6 DM . NR4A3 9 99821855 99866891 Y . Y N -0.085925845 43.1209122 . . . . NR5A1 9 124481236 124507430 Y . Y N -0.580323987 17.36991376 0.947523498 15 DM 46XY sex reversal 3, 612965 (3); Premature ovarian failure 7, 612964 (3); Adrenocortical insufficiency (3); Spermatogenic failure 8, 613957 (3) NR5A2 1 200027602 200177424 Y . Y N -0.81755696 11.25195346 0.959085111 14 . . NR6A1 9 124517275 124771310 Y Lethal Y N -0.450856222 22.22608092 0.992320028 9.3 . . NRAS 1 114704469 114716894 Y . Y N -0.202452202 35.31863171 0.912772901 17.1 DM Autoimmune lymphoproliferative syndrome type IV, 614470 (3); Noonan syndrome 6, 613224 (3); Epidermal nevus, somatic, 162900 (3); Thyroid carcinoma, follicular, somatic, 188470 (3); Colorectal cancer, somatic, 114500 (3); Melanocytic nevus syndrome, congenital, somatic, 137550 (3); Neurocutaneous melanosis, somatic, 249400 (3); Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200 (3) NRBP1 2 27427790 27442259 Y . Y N -0.430261371 23.14059154 0.999548511 5.1 . . NRD1 1 51789191 51878937 Y . Y N -1.573405307 2.94611333 0.878722429 18.7 . . NRDE2 14 90267856 90332137 Y . Y N 0.207456485 64.82606934 6.49E-10 91.5 . . NRF1 7 129611714 129757082 Y . Y N -0.614166516 16.35700642 0.996970243 7.6 . . NRG1 8 31639386 32767959 Y . Y N 0.151907661 61.11593448 0.947798762 15 DM {?Schizophrenia, susceptibility to}, 603013 (1) NRG2 5 139846779 140043299 Y . Y N -0.227525777 33.90056144 0.995154288 8.4 . . NRK X 105822543 105958610 Y . Y N 0.397440353 75.71337616 0.763369951 22.8 . . NRP1 10 33177492 33336262 Y . Y N -0.967332976 8.427389014 0.996035953 7.9 . . NRP2 2 205681990 205798133 Y . Y N -0.285188096 30.3177635 0.00171165 62.5 DM? . NRXN2 11 64606174 64723188 Y . Y N -3.016673962 0.596168316 0.999895574 3.8 DM . NRXN3 14 78242391 79868290 Y . Y N -2.457334473 1.007119292 0.999855501 4.1 DM . NSD1 5 177133025 177300215 Y . Y N -2.845588443 0.677200903 0.999999999 0.6 DM Sotos syndrome 1, 117550 (3); Leukemia, acute myeloid, 601626 (1); Beckwith-Wiedemann syndrome, 130650 (3) NSDHL X 152830967 152869729 Y . Y N 0.730150671 87.57886207 0.940558049 15.5 DM CHILD syndrome, 308050 (3); CK syndrome, 300831 (3) NSF 17 46590669 46757464 N Lethal Y N . . 0.71368213 24.2 . . NSRP1 17 30115521 30186475 Y . Y N 0.077377607 55.48416971 0.104801505 42.8 . . NTF3 12 5432112 5521536 Y . Y N -0.160151469 38.02743532 0.854440385 19.7 DM? . NTN1 17 9021542 9244000 Y . Y N -0.071876736 44.2958847 . . . . NTRK1 1 156815640 156881850 Y Lethal Y N 0.196772508 64.19517277 0.000424899 67.6 DM Insensitivity to pain, congenital, with anhidrosis, 256800 (3); Medullary thyroid carcinoma, familial, 155240 (3) NTRK2 9 84668551 85027070 Y Subviable Y N -1.18332098 5.759101696 0.99989318 3.8 DM ?Obesity, hyperphagia, and developmental delay, 613886 (3) NTRK3 15 87859751 88256768 Y . Y N -1.303241811 4.682525901 0.978536238 12 DM? . NUAK1 12 106063340 106140033 Y . Y N -1.303385217 4.67673786 0.189029673 39 DM? . NUAK2 1 205302059 205321791 Y . Y N -0.013463392 48.46327487 3.18E-05 75.1 . . NUBP1 16 10743786 10769351 Y . Y N 0.212431469 65.21965619 6.66E-08 86.6 . . NUBPL 14 31489956 31861224 N Lethal Y N 0.715143866 87.26630781 0.002009882 61.9 DM Mitochondrial complex I deficiency, 252010 (3) NUMA1 11 72002864 72080693 Y . Y N 0.819001069 89.49470394 0.999999245 1.6 . Leukemia, acute promyelocytic, somatic, 612376 (3) NUMB 14 73275107 73463642 Y . Y N -0.965712571 8.44475314 0.024399169 50.6 . . NUP133 1 229440260 229508341 Y . Y N -0.370592408 25.84939515 0.06623242 45.4 . . NUP155 5 37288137 37371181 Y . Y N -2.424342467 1.036059501 0.990594276 9.8 DM ?Atrial fibrillation 15, 615770 (3) NUP214 9 131125561 131234670 Y . Y N -1.024736551 7.541818603 0.993841693 8.9 . Leukemia, acute myeloid, somatic, 601626 (3); Leukemia, T-cell acute lymphoblastic, somatic, 613065 (3) NUP50 22 45163841 45188015 Y . Y N -0.58863046 17.126816 0.238540628 37.4 . . NUP62 19 49906825 49929763 Y . Y N -0.142927664 39.19083174 0.804394184 21.5 DM Striatonigral degeneration, infantile, 271930 (3) NUP85 17 75205659 75235758 Y . Y N -0.521907714 19.37257626 0.999782632 4.4 . . NUP98 11 3671083 3797792 Y . Y N 0.154288078 61.32430399 0.999999979 0.9 . . NUS1 6 117675502 117710640 N . Y N 0.351015356 73.42131157 0.86994289 19.1 . . NUSAP1 15 41332694 41381050 Y . Y N 0.125114793 59.14221219 0.005102518 58 . . NUTF2 16 67846732 67872567 N Lethal Y N -0.014874933 48.27805753 0.885150385 18.4 . . NXN 17 799313 979770 Y Lethal Y N -0.412383648 23.80042832 0.86063739 19.5 DM? . OAT 10 124397303 124418976 Y . Y N -0.023988294 47.67610117 0.000721947 65.9 DM Gyrate atrophy of choroid and retina with or without ornithinemia, 258870 (3) OCA2 15 27754875 28099358 Y . Y N 1.535767851 97.14649534 7.68E-12 94.4 DM Albinism, oculocutaneous, type II, 203200 (3); Albinism, brown oculocutaneous, 203200 (3); [Skin/hair/eye pigmentation 1, blue/nonblue eyes], 227220 (3); [Skin/hair/eye pigmentation 1, blond/brown hair], 227220 (3) ODC1 2 10439968 10448504 Y . Y N -1.167508425 5.926954911 0.950802103 14.7 FP {Colonic adenoma recurrence, reduced risk of}, 114500 (3) ODF2 9 128455186 128501292 Y . Y N -0.181248987 36.66145743 0.365893592 33.8 . . OGDH 7 44606572 44709066 Y . Y N -1.718864637 2.378885223 0.993695121 8.9 . Alpha-ketoglutarate dehydrogenase deficiency, 203740 (1) OLIG2 21 33025845 33029196 Y . Y N . . 0.203764107 38.6 . . OLIG3 6 137492202 137494250 Y . Y N -0.160151469 38.02743532 0.672757859 25.4 . . ONECUT1 15 52756989 52791078 Y . Y N -0.134619278 39.77542397 0.209132853 38.5 . . OPA1 3 193593144 193697823 Y . Y N -0.913038952 9.336111593 0.994351456 8.7 DM Optic atrophy 1, 165500 (3); {Glaucoma, normal tension, susceptibility to}, 606657 (3); Optic atrophy plus syndrome, 125250 (3) OPA3 19 45527427 45602212 Y . Y N -0.435850038 22.9148579 0.004120666 59 DM 3-methylglutaconic aciduria, type III, 258501 (3); Optic atrophy 3 with cataract, 165300 (3) OPHN1 X 68042344 68433913 N . Y N 0.17204628 62.67291775 0.999448415 5.3 DM Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486 (3) OPTN 10 13099449 13138308 Y . Y N -0.958208997 8.606818313 4.99E-07 83.8 DM Glaucoma 1, open angle, E, 137760 (3); {Glaucoma, normal tension, susceptibility to}, 606657 (3); Amyotrophic lateral sclerosis 12, 613435 (3) ORAI1 12 121626550 121642677 Y . Y N 0.101649038 57.35370724 0.003053358 60.3 DM Immunodeficiency 9, 612782 (3); Myopathy, tubular aggregate, 2, 615883 (3) ORC1 1 52372829 52404459 N Lethal Y N -0.367870323 25.95936795 3.39E-05 74.9 DM Meier-Gorlin syndrome 1, 224690 (3) ORC3 6 87590067 87667453 N . Y N 0.024051489 51.38044799 0.000309997 68.5 . . OS9 12 57693955 57721557 Y . Y N -0.916864433 9.272443132 1.13E-07 86 FTV . OSR1 2 19351485 19358653 Y . Y N -0.167654501 37.52966371 0.774760147 22.5 DFP . OSR2 8 98944403 98952104 Y . Y N 0.098778904 57.07588123 0.566682209 28.3 . . OSTM1 6 108041409 108165854 Y . Y N -0.17611458 36.99137582 0.060471418 45.9 DM Osteopetrosis, autosomal recessive 5, 259720 (3) OTC X 38352545 38421450 Y . Y N 0.240380673 66.89818834 0.9810179 11.6 DM Ornithine transcarbamylase deficiency, 311250 (3) OTP 5 77628712 77639688 Y . Y N . . 0.848003249 20 . . OTUB1 11 63985853 64001811 N Lethal Y N -0.20804097 35.04659374 0.945238199 15.2 . . OTUD6B 8 91070196 91087095 N Subviable Y N 0.802317481 89.18214968 6.26E-08 86.7 . . OTULIN 5 14664664 14699711 Y . Y N . . . . . . OTX1 2 63050057 63057836 Y . Y N -0.57377816 17.53197893 0.219807904 38 . . OTX2 14 56799905 56810479 Y . Y N -0.32617555 27.96781849 0.744599587 23.3 DM Microphthalmia, syndromic 5, 610125 (3); Pituitary hormone deficiency, combined, 6, 613986 (3); Retinal dystrophy, early-onset, with or without pituitary dysfunction, 610125 (3) OVOL1 11 65787022 65797219 Y Subviable Y N 0.249796776 67.44226428 0.676795694 25.3 . . OVOL2 20 17956979 18059188 Y . Y N -0.047605945 46.02072119 0.436097284 31.8 . . OXCT1 5 41730065 41870519 Y . Y N -0.442395976 22.60809168 0.267382737 36.6 DM Succinyl CoA:3-oxoacid CoA transferase deficiency, 245050 (3) OXSR1 3 38165089 38255488 Y . Y N -0.42930414 23.16374371 0.989117556 10.1 . . P2RY4 X 70258170 70259764 Y . Y N 0.859622035 90.36291023 0.34071107 34.5 FTV . P3H2 3 189956728 190122437 N . Y N . . . . . Myopia, high, with cataract and vitreoretinal degeneration, 614292 (3) P4HA1 10 73007217 73096974 Y . Y N -0.350445024 26.76390577 0.776076095 22.4 . . P4HB 17 81843159 81860694 N Subviable Y N -0.437610849 22.86276553 0.968508654 13.2 . Cole-Carpenter syndrome 1, 112240 (3) PACSIN2 22 42835412 43015145 N Subviable Y N -0.487262043 20.68646177 0.270395757 36.5 . . PADI2 1 17066761 17119435 N Subviable Y N 0.347790268 73.27661052 0.000124031 71.2 . . PADI4 1 17308195 17364004 Y . Y N 0.902228092 91.11535568 1.30E-09 90.9 DP {Rheumatoid arthritis, susceptibility to}, 180300 (3) PAFAH1B1 17 2593210 2685615 Y . Y N -0.434090717 23.00746657 0.999632853 4.9 DM Lissencephaly 1, 607432 (3); Subcortical laminar heterotopia, 607432 (3) PAK1IP1 6 10694695 10709782 Y . Y N -0.124397678 40.48156509 0.368163912 33.7 . . PAK2 3 196739857 196832647 Y . Y N -0.239813643 33.09023557 0.938688564 15.7 . . PAK4 19 39125770 39182816 Y . Y N -0.115786048 41.08352144 0.701123853 24.6 . . PALB2 16 23603160 23641310 Y Lethal Y N -0.769231113 12.21276842 1.33E-10 92.7 DM Fanconi anemia, complementation group N, 610832 (3); {Breast cancer, susceptibility to}, 114480 (3); {Pancreatic cancer, susceptibility to, 3}, 613348 (3) PALLD 4 168497066 168928457 Y . Y N -0.409064849 23.98564566 6.64E-05 73.1 DM {Pancreatic cancer, susceptibility to, 1}, 606856 (3) PAM 5 102753981 103031105 Y . Y N -0.62584989 16.00393587 0.030444397 49.6 DM . PAM16 16 4331549 4355607 N Lethal Y N -0.072028905 44.27852058 0.144011544 40.9 . Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type, 613320 (3) PANK2 20 3888839 3929882 Y . Y N -0.555899965 18.03553858 0.010791833 54.6 DM Neurodegeneration with brain iron accumulation 1, 234200 (3); HARP syndrome, 607236 (3) PARD3 10 34109560 34815325 Y Lethal Y N -0.44261542 22.56178735 0.93852705 15.7 DM? . PARG 10 49818279 49970203 Y . Y N . . . . . . PARP1 1 226360691 226408079 Y Subviable Y N -0.733623524 13.04624645 0.006996931 56.6 DM . PARVA 11 12377185 12530801 Y . Y N -0.49124353 20.54754876 0.34376402 34.4 . . PATL1 11 59636716 59668980 N Subviable Y N -0.181550908 36.64988135 0.991973626 9.4 . . PATZ1 22 31325804 31346232 Y Lethal Y N -1.394392098 3.953232621 0.992716044 9.2 . . PAWR 12 79574979 79691097 N Subviable Y N -0.079531963 43.66498813 0.442459925 31.6 DP . PAX1 20 21705659 21718486 N . Y N -0.303512836 29.281704 0.616084026 27.1 DM ?Otofaciocervical syndrome 2, 615560 (3) PAX2 10 100735603 100829941 Y . Y N -0.684411658 14.4064363 0.120234372 42.1 DM Papillorenal syndrome, 120330 (3); Renal hypoplasia, isolated, 191830 (3); Glomerulosclerosis, focal segmental, 7, 616002 (3) PAX3 2 222199888 222298996 Y . Y N -0.013614871 48.45169879 0.900856133 17.8 DM Waardenburg syndrome, type 1, 193500 (3); Waardenburg syndrome, type 3, 148820 (3); Craniofacial-deafness-hand syndrome, 122880 (3); Rhabdomyosarcoma 2, alveolar, 268220 (3) PAX4 7 127610292 127615928 Y Lethal Y N 0.976957029 92.43502923 0.003370356 59.9 DM Maturity-onset diabetes of the young, type IX, 612225 (3); Diabetes mellitus, type 2, 125853 (3); {Diabetes mellitus, ketosis-prone, susceptibility to}, 612227 (3) PAX5 9 36833275 37034185 Y . Y N 0.008742604 50.21705157 0.984243989 11.1 DM? {Leukemia, acute lymphoblastic, susceptibility to, 3}, 615545 (3) PAX6 11 31784792 31817961 Y . Y N -0.461231059 21.83249407 0.998807897 6.1 DM Aniridia, 106210 (3); Peters anomaly, 604229 (3); Cataract with late-onset corneal dystrophy, 106210 (3); Keratitis, 148190 (3); Foveal hypoplasia 1, 136520 (3); ?Morning glory disc anomaly, 120430 (3); Optic nerve hypoplasia, 165550 (3); Coloboma, ocular, 120200 (3); Coloboma of optic nerve, 120430 (3); Gillespie syndrome, 206700 (3) PAX7 1 18631006 18748866 Y Subviable Y N -0.418777308 23.55733056 0.6298293 26.6 FP Rhabdomyosarcoma 2, alveolar, 268220 (3) PAX8 2 113215997 113278950 Y . Y N 0.19742545 64.22990102 0.902123843 17.7 DM Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia, 218700 (3) PAX9 14 36657568 36679715 Y . Y N -0.285788866 30.29461133 0.088094505 43.9 DM Tooth agenesis, selective, 3, 604625 (3) PAXIP1 7 154943687 155003084 Y . Y N -0.53515137 18.78219598 0.999932438 3.4 . . PBRM1 3 52545352 52685917 Y . Y N -2.257385594 1.2154888 0.999999987 0.8 . . PBX1 1 164555584 164899296 Y . Y N -0.411581382 23.84673265 0.910582151 17.3 . Leukemia, acute pre-B-cell (2) PBX3 9 125747345 125967377 Y Lethal Y N -0.535305023 18.7706199 0.592665484 27.6 DP . PC 11 66848233 66958376 N Lethal Y N -1.911977463 1.846385368 0.71643567 24.2 DM Pyruvate carboxylase deficiency, 266150 (3) PCCA 13 100089015 100530435 Y . Y N -0.694482425 14.12861029 2.13E-10 92.4 DM Propionicacidemia, 606054 (3) PCDH10 4 133149315 133208606 Y . Y N -2.144785878 1.389130057 0.894430213 18 . . PCGF2 17 38733897 38749817 Y Lethal Y N -0.304623579 29.21803554 0.553826743 28.6 . . PCK1 20 57561080 57568112 Y . Y N -0.151236787 38.62360363 3.93E-08 87.3 DFP ?Phosphoenolpyruvate carboxykinase-1, cytosolic, deficiency, 261680 (1) PCNA 20 5114953 5126626 Y . Y N -0.004501323 49.10574753 0.937503505 15.7 . ?Ataxia-telangiectasia-like disorder, 615919 (3) PCSK1 5 96390415 96434143 Y Subviable Y N -0.422453667 23.43578168 0.089639821 43.8 DM Obesity with impaired prohormone processing, 600955 (3); {Obesity, susceptibility to, BMIQ12}, 612362 (3) PCSK5 9 75890644 76362339 Y Lethal Y N -0.076414421 43.94281415 0.000207779 69.7 . . PCSK6 15 101297142 101525202 Y . Y N . . 0.010469586 54.7 . . PCYT1A 3 196214222 196287957 Y . Y N -0.064373744 44.83996064 0.098300076 43.3 . Spondylometaphyseal dysplasia with cone-rod dystrophy, 608940 (3) PCYT2 17 81900965 81911464 Y . Y N -0.224807605 34.0336864 0.248194492 37.1 . . PDCD10 3 167683298 167734939 Y . Y N -0.08048891 43.56080338 0.985734931 10.8 DM Cerebral cavernous malformations 3, 603285 (3) PDCD2 6 170575295 170584692 Y Lethal Y N 0.297684879 70.38258957 0.000192309 69.9 . . PDE12 3 57556276 57566844 N Lethal Y N -0.377586284 25.59472131 0.023572423 50.8 . . PDE2A 11 72576141 72674591 Y . Y N -0.843742825 10.70787753 0.988417593 10.3 . . PDE4D 5 58969038 60522120 Y . Y N -0.888763627 9.822307114 0.983199686 11.2 DM {Stroke, susceptibility to, 1}, 606799 (3); Acrodysostosis 2, with or without hormone resistance, 614613 (3) PDE4DIP 1 148808181 149048286 N . Y N 9.267670111 99.95369566 . . FTV . PDGFA 7 497258 520296 Y . Y N 0.141883914 60.31139665 0.858461737 19.6 . . PDGFB 22 39223359 39244751 Y . Y N 0.206691474 64.80870522 0.966288095 13.4 DM Meningioma, SIS-related, 607174 (3); Dermatofibrosarcoma protuberans, 607907 (3); Basal ganglia calcification, idiopathic, 5, 615483 (3) PDGFC 4 156760454 156971394 Y . Y N -0.559729217 17.94292991 0.969061049 13.1 DFP . PDGFRA 4 54229097 54298247 Y . Y N -0.661455164 14.99681658 0.99987673 4 DM Gastrointestinal stromal tumor, somatic, 606764 (3); Hypereosinophilic syndrome, idiopathic, resistant to imatinib, 607685 (3) PDGFRB 5 150113837 150155872 Y Lethal Y N -0.984934088 8.126410835 0.998643466 6.3 DM Myeloproliferative disorder with eosinophilia, 131440 (4); Basal ganglia calcification, idiopathic, 4, 615007 (3); Myofibromatosis, infantile, 1, 228550 (3); Premature aging syndrome, Penttinen type, 601812 (3); Kosaki overgrowth syndrome, 616592 (3) PDHA1 X 19343893 19361705 Y . Y N -0.055108985 45.45349308 0.992090139 9.4 DM Pyruvate dehydrogenase E1-alpha deficiency, 312170 (3) PDIA3 15 43746392 43773279 Y . Y N -0.219065877 34.38675696 0.959251419 14 . . PDIA6 2 10783391 10837977 N Lethal Y N -0.190010792 36.18104995 0.120591092 42.1 . . PDLIM3 4 185500660 185535612 Y . Y N -0.212519778 34.79191989 9.37E-08 86.2 DM . PDLIM7 5 177483394 177497606 Y . Y N 0.654309067 85.76720495 0.903030194 17.6 . . PDPK1 16 2537964 2603188 Y . Y N . . 0.952237848 14.5 FTV . PDPN 1 13583465 13617957 Y Subviable Y N 0.155126864 61.40533657 0.000983708 64.8 . . PDS5A 4 39822863 39977956 Y . Y N -1.129837298 6.274237425 0.99985292 4.1 . . PDS5B 13 32586427 32778019 Y . Y N -1.670969928 2.564102564 0.999912404 3.7 . . PDSS2 6 107152557 107459564 Y . Y N -0.245402639 32.7487411 1.90E-05 76.4 DM Coenzyme Q10 deficiency, primary, 3, 614652 (3) PDX1 13 27920020 27926231 Y . Y N . . 0.522915816 29.4 DM Lacticacidemia due to PDX1 deficiency, 245349 (3) PDXK 21 43719094 43762307 Y . Y N -0.097256408 42.28164612 0.984648173 11 FP . PEG10 7 94656325 94669695 Y . Y N -0.25960522 31.89789894 0.894178858 18 . . PEG3 19 56810083 56840728 Y . Y N 1.039127817 93.25114314 0.001908157 62 . . PELI1 2 64092652 64144454 Y . Y N -0.824258627 11.07831221 0.909074231 17.3 . . PELO 5 52787940 52804046 Y . Y N -0.261365676 31.77635006 0.590624889 27.7 . . PEPD 19 33386950 33521794 Y . Y N 0.276282588 69.08606818 0.014507135 53.3 DM Prolidase deficiency, 170100 (3) PERP 6 138088505 138107511 Y . Y N 0.520867599 81.28726052 0.141632279 41 . . PES1 22 30576625 30607083 Y . Y N 0.030597644 51.86085547 0.655113489 25.9 . . PEX10 1 2403964 2413797 N . Y N 0.644892524 85.51253111 0.010463632 54.7 DM Peroxisome biogenesis disorder 6A (Zellweger), 614870 (3); Peroxisome biogenesis disorder 6B, 614871 (3) PEX11B 1 145911350 145918837 Y . Y N -0.196709583 35.69485443 0.000510737 67 DM Peroxisome biogenesis disorder 14B, 614920 (3) PEX13 2 61017225 61051990 Y . Y N 0.526605081 81.48984199 0.023139719 50.9 DM Peroxisome biogenesis disorder 11A (Zellweger), 614883 (3); Peroxisome biogenesis disorder 11B, 614885 (3) PEX14 1 10472288 10630758 Y . Y N 0.179549296 63.17068936 0.634568378 26.5 DM Peroxisome biogenesis disorder 13A (Zellweger), 614887 (3) PEX2 8 76980258 77001044 Y . Y N 0.190728755 63.83052613 0.055556481 46.4 DM Peroxisome biogenesis disorder 5A (Zellweger), 614866 (3); Peroxisome biogenesis disorder 5B, 614867 (3) PEX26 22 18077920 18131138 N Lethal Y N 0.219784433 65.64218325 0.435973302 31.8 DM Peroxisome biogenesis disorder 7A (Zellweger), 614872 (3); Peroxisome biogenesis disorder 7B, 614873 (3) PEX5 12 7188685 7218574 Y . Y N -0.393397902 24.77281936 0.401174868 32.7 DM Peroxisome biogenesis disorder 2A (Zellweger), 214110 (3); Peroxisome biogenesis disorder 2B, 202370 (3) PEX7 6 136822564 136913937 Y . Y N -0.363690885 26.19088962 6.86E-08 86.6 DM Chondrodysplasia punctata, rhizomelic, type 1, 215100 (3); Peroxisome biogenesis disorder 9B, 614879 (3) PFAS 17 8247618 8270491 Y . Y N 0.881357304 90.72755687 2.79E-08 87.7 DP . PFDN2 1 161100556 161118111 Y . Y N 0.102455237 57.40579962 0.219933484 38 . . PFDN6 6 33289302 33298401 N Subviable Y N 0.031100532 51.89558372 0.85942218 19.5 . . PFKFB3 10 6144934 6235545 Y . Y N -0.554790415 18.07605487 0.048931812 47.1 . . PFKL 21 44300051 44327376 Y . Y N -0.350951363 26.71760144 3.68E-10 92 . Hemolytic anemia due to phosphofructokinase deficiency (1) PFKM 12 48105139 48146404 Y . Y N -1.012498808 7.698095734 6.03E-07 83.4 DM Glycogen storage disease VII, 232800 (3) PFN1 17 4945652 4949061 Y . Y N 0.069572814 54.86484922 0.688581662 24.9 DM Amyotrophic lateral sclerosis 18, 614808 (3) PGAP1 2 196833004 196927796 Y . Y N -1.0415576 7.345025178 0.008785882 55.4 . ?Mental retardation, autosomal recessive 42, 615802 (3) PGM3 6 83161150 83193936 Y . Y N 0.478865545 79.695549 0.023563573 50.8 . Immunodeficiency 23, 615816 (3) PGS1 17 78378640 78425114 N Lethal Y N -0.59517675 16.86635411 0.000957082 64.9 . . PHACTR4 1 28369582 28500369 Y . Y N -0.431870058 23.10007524 0.004273776 58.8 . . PHB 17 49404049 49414905 Y . Y N -0.426587603 23.26214042 0.82163215 20.9 DFP {Breast cancer, susceptibility to}, 114480 (3) PHB2 12 6965327 6970825 Y . Y N -0.251145013 32.40145859 0.075835362 44.7 . . PHC1 12 8913896 8941467 Y . Y N -0.825865938 11.03200787 0.997152365 7.4 DM ?Microcephaly 11, primary, autosomal recessive, 615414 (3) PHF11 13 49495610 49528987 N Lethal Y N 0.317324799 71.58071424 1.77E-05 76.6 DFP [IgE levels QTL], 147050 (3); {Asthma}, 600807 (3) PHF13 1 6613685 6624033 Y . Y N -0.497789345 20.304451 0.931111283 16.1 . . PHF14 7 10973872 11169623 Y . Y N -0.48550039 20.72697806 0.20653924 38.6 . . PHF2 9 93576407 93679587 Y . Y N -0.401708401 24.32135209 0.994132137 8.8 DM? . PHF21A 11 45929323 46121178 Y . Y N -0.256580891 32.10626845 0.999675486 4.7 DM . PHF5A 22 41459717 41468725 Y . Y N 0.082665704 55.90669676 0.849500693 19.9 . . PHF6 X 134373253 134428791 N Lethal Y N -0.193991974 35.88007177 0.972400781 12.8 DM Borjeson-Forssman-Lehmann syndrome, 301900 (3) PHGDH 1 119659798 119744215 Y . Y N -0.722732042 13.33564855 0.000436999 67.5 DM Phosphoglycerate dehydrogenase deficiency, 601815 (3); Neu-Laxova syndrome1, 256520 (3) PHIP 6 78935867 79078236 Y . Y N -2.567092114 0.920298663 0.999999948 1 DM . PHOX2A 11 72239077 72245664 Y . Y N . . 0.652575726 26 DM Fibrosis of extraocular muscles, congenital, 2, 602078 (3) PHOX2B 4 41744082 41748970 Y . Y N -0.252102165 32.32621404 0.850787953 19.9 DM Central hypoventilation syndrome, congenital, with or without Hirschsprung disease, 209880 (3); {Neuroblastoma, susceptibility to, 2}, 613013 (3); Neuroblastoma with Hirschsprung disease, 613013 (3) PI4KA 22 20707691 20859417 Y . Y N -3.527357649 0.36464664 0.000804073 65.5 . Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, 616531 (3) PIAS1 15 68054179 68198603 Y . Y N -1.204070369 5.533368062 0.997024482 7.5 DM? . PIAS4 19 4007646 4039386 Y . Y N -0.853159973 10.50529606 0.994350818 8.7 . . PIBF1 13 72782059 73016461 N Lethal Y N -0.463646524 21.74567344 4.98E-08 87 DM? . PICALM 11 85957684 86069882 Y . Y N -0.647699278 15.45407189 0.97208309 12.8 DM Leukemia, acute myeloid, somatic, 601626 (3) PIFO 1 111346288 111353013 Y . Y N 0.331374701 72.39104011 7.55E-05 72.8 . . PIGA X 15319451 15335554 Y . Y N -0.221132832 34.27099612 0.916789462 16.9 DM Paroxysmal nocturnal hemoglobinuria, somatic, 300818 (3); Multiple congenital anomalies-hypotonia-seizures syndrome 2, 300868 (3) PIGF 2 46580937 46617119 Y . Y N 0.355796906 73.73386583 0.00090904 65.1 . . PIGH 14 67581955 67600287 N Lethal Y N 0.144604076 60.5660705 0.069881581 45.1 . . PIGL 17 16217191 16351797 N Lethal Y N 0.457163544 78.66527754 3.55E-05 74.8 DM CHIME syndrome, 280000 (3) PIGU 20 34560542 34698790 N Lethal Y N -0.214433638 34.65879493 0.813069113 21.2 . . PIK3C2A 11 17077730 17207983 N Lethal Y N -1.243773449 5.157145338 0.14870309 40.6 . . PIK3C3 18 41955206 42087830 Y . Y N -1.604518338 2.818776408 0.080317726 44.4 DFP . PIK3CA 3 179148114 179240093 Y . Y N -1.06804498 6.95722637 0.999998511 1.8 DM Ovarian cancer, somatic, 167000 (3); Breast cancer, somatic, 114480 (3); Colorectal cancer, somatic, 114500 (3); Gastric cancer, somatic, 613659 (3); Hepatocellular carcinoma, somatic, 114550 (3); Nonsmall cell lung cancer, somatic, 211980 (3); Keratosis, seborrheic, somatic, 182000 (3); Nevus, epidermal, somatic, 162900 (3); CLOVE syndrome, somatic, 612918 (3); Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, 602501 (3); Cowden syndrome 5, 615108 (3) PIK3CB 3 138652699 138834938 Y . Y N -1.398071789 3.935868496 0.999979002 2.8 DFP . PIK3R1 5 68215720 68301821 Y . Y N -1.194652177 5.631764774 0.998240488 6.7 DM ?Agammaglobulinemia 7, autosomal recessive, 615214 (3); SHORT syndrome, 269880 (3); Immunodeficiency 36, 616005 (3) PIK3R4 3 130678935 130746829 Y . Y N -0.847133803 10.6210569 0.707146276 24.4 FTV . PIKFYVE 2 208266267 208358751 Y . Y N -2.716085045 0.781385657 0.979802749 11.8 DM Corneal fleck dystrophy, 121850 (3) PINX1 8 10764963 10839884 Y . Y N 0.710659214 87.15054697 4.94E-09 89.6 . . PIP4K2B 17 38765689 38800126 Y . Y N -0.314843927 28.5639868 0.989205104 10.1 . . PIP5K1A 1 151197949 151249536 Y . Y N -0.347574091 26.90281878 0.014586299 53.3 . . PIP5K1C 19 3630183 3700479 Y . Y N -0.784523017 11.86548591 0.859389818 19.5 DM Lethal congenital contractural syndrome 3, 611369 (3) PISD 22 31618491 31662432 Y . Y N 0.160867203 61.83943972 0.840252301 20.3 . . PITPNA 17 1517718 1562816 Y . Y N -0.313083888 28.69711177 0.929437925 16.2 . . PITPNB 22 27851669 27920134 Y . Y N -0.194949121 35.83376744 0.974445019 12.5 . . PITRM1 10 3137728 3172841 Y . Y N 2.234894585 98.90606008 7.16E-16 97.4 . . PITX1 5 135027735 135034813 Y . Y N -0.287703102 30.21357875 0.273516401 36.4 DM Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly, 119800 (3); Liebenberg syndrome, 186550 (4) PITX2 4 110617423 110642123 Y Lethal Y N -0.157280485 38.20107658 0.672788796 25.4 DM Axenfeld-Rieger syndrome, type 1, 180500 (3); Iridogoniodysgenesis, type 2, 137600 (3); Ring dermoid of cornea, 180550 (3); Peters anomaly, 604229 (3) PKD1 16 2088710 2135898 Y . Y N 3.131531169 99.58326098 0.999905332 3.7 DM Polycystic kidney disease, adult type I, 173900 (3) PKD1L1 7 47774652 47948491 Y . Y N 2.905188588 99.4617121 1.72E-23 99.2 DP . PKD2 4 88007668 88077777 Y . Y N -0.46460294 21.68200498 0.99527786 8.3 DM . PKDCC 2 42048020 42058528 Y . Y N -0.024945118 47.60085663 5.41E-05 73.7 . . PKHD1 6 51615300 52087625 Y . Y N -0.377854299 25.55420501 2.89E-23 99.2 DM Polycystic kidney and hepatic disease, 263200 (3) PKM 15 72199029 72231822 Y . Y N -0.687129344 14.29067546 0.994197406 8.8 DM . PKNOX1 21 42974510 43033931 Y . Y N -0.493960577 20.43757597 0.986550844 10.7 DM? . PKP2 12 32790745 32896840 Y . Y N 0.72039146 87.45152515 6.14E-10 91.6 DM Arrhythmogenic right ventricular dysplasia 9, 609040 (3) PLA2G3 22 31134809 31140607 Y . Y N 0.848590578 90.18348093 1.14E-08 88.8 FTV . PLAC1 X 134565838 134764322 Y . Y N 0.063983137 54.4886265 0.181581259 39.3 . . PLAGL1 6 143940300 144064599 Y . Y N -0.266954701 31.4637958 0.881694431 18.5 DM? {Diabetes mellitus, transient neonatal}, 601410 (1) PLAGL2 20 32192503 32207791 Y . Y N -0.841981514 10.74839382 0.869795638 19.1 . . PLCB1 20 8114453 8968360 Y . Y N -0.981385029 8.20165538 0.979044816 11.9 DM Epileptic encephalopathy, early infantile, 12, 613722 (3) PLCB3 11 64251523 64269150 Y . Y N -0.97101522 8.375296637 0.9683767 13.2 . . PLCB4 20 9068763 9481242 Y . Y N -0.590245334 17.05157145 0.272263498 36.4 DM Auriculocondylar syndrome 2, 614669 (3) PLCG1 20 41136960 41196801 Y . Y N -1.794744299 2.205243966 0.763352352 22.8 . . PLEC 8 143915147 143976734 Y . Y N 3.998310165 99.77426637 0.024936271 50.5 DM Epidermolysis bullosa simplex with muscular dystrophy, 226670 (3); Epidermolysis bullosa simplex, Ogna type, 131950 (3); Epidermolysis bullosa simplex with pyloric atresia, 612138 (3); Muscular dystrophy, limb-girdle, type 2Q, 613723 (3); ?Epidermolysis bullosa simplex with nail dystrophy, 616487 (3) PLEKHA1 10 122374696 122442602 Y . Y N 0.119525236 58.70810905 0.017777338 52.2 . {Age-related maculopathy, susceptibility to}, 603075 (2) PLK1 16 23677656 23690367 Y Lethal Y N -0.208692306 35.01186549 0.994120613 8.8 . . PLK2 5 58453982 58460260 Y . Y N -0.750026799 12.61793135 0.998863615 6.1 . . PLK3 1 44800225 44805990 Y . Y N -0.517274597 19.5577936 6.25E-05 73.3 . . PLK4 4 127880861 127899195 Y . Y N -0.536766152 18.73589165 0.777981749 22.3 . Microcephaly and chorioretinopathy, autosomal recessive, 2, 616171 (3) PLOD3 7 101205977 101218420 Y . Y N 0.973591632 92.35978468 3.88E-08 87.3 DM Lysyl hydroxylase 3 deficiency, 612394 (3) PLP1 X 103773718 103792619 Y . Y N 0.04051715 52.61908896 0.902958512 17.6 DM Pelizaeus-Merzbacher disease, 312080 (3); Spastic paraplegia 2, X-linked, 312920 (3) PLRG1 4 154535006 154550435 Y . Y N -0.102845596 41.94593969 0.998224783 6.7 . . PLVAP 19 17351448 17377350 Y . Y N -0.511685065 19.76037507 0.000801227 65.5 . . PLXNB2 22 50274979 50307627 Y . Y N -1.051056935 7.188748047 0.992862471 9.2 . . PLXND1 3 129555175 129606818 Y . Y N 1.009884763 92.89228454 0.999989725 2.6 DP . PMM2 16 8788823 8849331 Y . Y N 0.29113834 69.98900272 4.03E-10 91.9 DM Congenital disorder of glycosylation, type Ia, 212065 (3) PMP22 17 15229777 15265326 Y . Y N 0.503948861 80.59848353 0.833150052 20.5 DM Charcot-Marie-Tooth disease, type 1A, 118220 (3); Dejerine-Sottas disease, 145900 (3); Neuropathy, recurrent, with pressure palsies, 162500 (3); Charcot-Marie-Tooth disease, type 1E, 118300 (3); Roussy-Levy syndrome, 180800 (3); Neuropathy, inflammatory demyelinating, 139393 (3) PMPCB 7 103297422 103329511 Y . Y N 0.200295721 64.41511837 5.38E-06 79.4 . . PNN 14 39175183 39183218 Y Lethal Y N -0.531324185 18.93847311 0.163641787 40 . . PNO1 2 68157844 68176238 Y . Y N 0.705728228 87.03478613 0.256534457 36.9 . . PNP 14 20468954 20477094 Y . Y N 0.068766772 54.77802859 0.065626801 45.5 DM Immunodeficiency due to purine nucleoside phosphorylase deficiency, 613179 (3) PNPLA1 6 36243203 36308595 N Subviable Y N 0.437673966 77.76813104 0.0004652 67.2 DM Ichthyosis, congenital, autosomal recessive 10, 615024 (3) PNPLA6 19 7534004 7561764 Y . Y N -2.491062397 0.97239104 1.59E-08 88.4 DM Spastic paraplegia 39, autosomal recessive, 612020 (3); Boucher-Neuhauser syndrome, 215470 (3); ?Laurence-Moon syndrome, 245800 (3); Oliver-McFarlane syndrome, 275400 (3) PNPLA8 7 108470422 108569666 Y . Y N -0.406490851 24.08983041 0.008131857 55.8 . ?Mitochondrial myopathy with lactic acidosis, 251950 (3) PNPO 17 47941506 47948288 Y . Y N 0.172852824 62.72501013 3.72E-05 74.7 DM Pyridoxamine 5'-phosphate oxidase deficiency, 610090 (3) PNPT1 2 55634265 55693910 Y . Y N -0.327633636 27.86363373 0.908266843 17.4 DM Combined oxidative phosphorylation deficiency 13, 614932 (3); Deafness, autosomal recessive 70, 614934 (3) PODXL 7 131500262 131558217 Y . Y N 1.164699834 94.68657753 0.251078486 37.1 . . POFUT1 20 32207880 32238667 Y . Y N -0.379500211 25.48474851 0.987586067 10.5 DM Dowling-Degos disease 2, 615327 (3) POFUT2 21 45263928 45287898 Y . Y N 0.01926743 51.03895352 0.010840872 54.6 . . POGLUT1 3 119468938 119494708 Y . Y N -0.147863581 38.90142965 0.000114466 71.4 . Dowling-Degos disease 4, 615696 (3) POLB 8 42338454 42371808 Y . Y N 0.128791076 59.33321757 0.000157164 70.5 DFP . POLD1 19 50384204 50418018 Y . Y N -0.322704383 28.08936737 0.001807011 62.3 DM {Colorectal cancer, susceptibility to, 10}, 612591 (3); Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, 615381 (3) POLD3 11 74493851 74669117 N Lethal Y N 0.468492577 79.26144585 0.991394247 9.6 . . POLDIP2 17 28347177 28357522 Y . Y N . . 0.049245457 47.1 . . POLE 12 132623753 132687365 Y . Y N -1.528488869 3.206575216 1.01E-14 96.7 DM . POLG 15 89316305 89334861 Y . Y N 0.251676151 67.52908491 4.12E-05 74.4 DM Progressive external ophthalmoplegia, autosomal recessive, 258450 (3); Progressive external ophthalmoplegia, autosomal dominant, 157640 (3); Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662 (3); Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700 (3); Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459 (3) POLG2 17 64477785 64497036 Y . Y N 0.533300984 81.79660821 2.16E-06 81.2 DM Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, 610131 (3) POLR1B 2 112541915 112577150 Y . Y N -0.941955257 8.832551948 0.91220791 17.2 . . POLR1E 9 37485935 37503697 Y . Y N 0.258406299 67.95161197 1.03E-05 78 . . POLR2A 17 7484366 7514618 Y . Y N -4.735642635 0.115760838 0.999999942 1 DM? . POLR2H 3 184361718 184368596 N Lethal Y N -0.042973552 46.37957979 0.90276728 17.7 . . POLR3F 20 18467127 18484643 Y . Y N 0.203821715 64.60033571 0.003866175 59.2 . . POLR3G 5 90471748 90514553 Y . Y N 0.013375229 50.50645367 6.43E-05 73.2 . . POMC 2 25160853 25168903 Y . Y N 0.143797178 60.51397812 0.000689013 66 DM Obesity, adrenal insufficiency, and red hair due to POMC deficiency, 609734 (3); {Obesity, early-onset, susceptibility to}, 601665 (3) POMGNT1 1 46188682 46220305 Y . Y N -0.51712528 19.56358164 1.68E-09 90.7 DM Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, 253280 (3); Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3, 613151 (3); Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3, 613157 (3) POMGNT2 3 43079232 43106076 N . Y N 0.54191358 82.13231464 0.007726772 56.1 . Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, 614830 (3) POMT1 9 131502902 131523806 Y . Y N -0.508665713 19.84719569 5.00E-10 91.8 DM Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, 236670 (3); Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1, 613155 (3); Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1, 609308 (3) POMT2 14 77274956 77320884 Y . Y N -0.444006465 22.52127105 0.000130414 71.1 DM Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150 (3); Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2, 613156 (3); Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2, 613158 (3) PON3 7 95359944 95396368 Y . Y N 0.535064702 81.88342884 0.002536783 61.1 DM . POP4 19 29604017 29617237 Y . Y N 0.584718507 83.67193378 0.14347717 40.9 . . POR 7 75899200 75986855 Y . Y N 0.351464982 73.46761591 4.34E-05 74.3 DM Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, 201750 (3); Disordered steroidogenesis due to cytochrome P450 oxidoreductase, 613571 (3) PORCN X 48508962 48520814 Y . Y N -0.288660263 30.16727441 0.995196052 8.4 DM Focal dermal hypoplasia, 305600 (3) POT1 7 124822386 124929983 Y . Y N -0.225611996 33.99317011 0.522727217 29.4 DM? {Melanoma, cutaneous malignant, susceptibility to, 10}, 615848 (3); {Glioma susceptibility 9}, 616568 (3) POU2F1 1 167220829 167427345 Y . Y N -0.88780693 9.845459281 0.913950638 17 . . POU2F2 19 42086110 42196585 Y . Y N -0.147863581 38.90142965 0.97379428 12.5 . . POU3F1 1 38043827 38046794 Y . Y N . . . . . . POU3F2 6 98834592 98839490 Y . Y N -0.274611335 31.00075245 . . . . POU3F3 2 104855511 104860471 Y . Y N . . . . . . POU4F1 13 78598362 78603560 Y . Y N -0.299035003 29.50743763 . . . . POU5F1 6 31164337 31180731 Y . Y N -0.047605945 46.02072119 0.889691089 18.2 DM . PPAP2B 1 56494747 56645301 Y . Y N -0.241727755 32.9281704 0.961834123 13.8 . . PPARD 6 35342558 35428191 Y . Y N -1.200396462 5.568096313 0.966868135 13.4 DFP . PPARG 3 12287368 12434356 Y Lethal Y N -0.669405164 14.77687098 0.668218174 25.5 DM Obesity, severe, 601665 (3); [Obesity, resistance to] (3); Insulin resistance, severe, digenic, 604367 (3); Lipodystrophy, familial partial, type 3, 604367 (3); Carotid intimal medial thickness 1, 609338 (3); {Diabetes, type 2}, 125853 (3) PPARGC1A 4 23755041 23904089 Y . Y N -0.89707561 9.654453898 0.999660629 4.8 DP . PPARGC1B 5 149730298 149855022 Y . Y N 0.459693288 78.78682642 0.934054614 15.9 DFP {Obesity, variation in}, 601665 (3) PPHLN1 12 42238447 42459715 Y . Y N -0.340071051 27.25010129 7.58E-05 72.7 . . PPIA 7 44796680 44824564 Y . Y N -0.134924458 39.72911964 0.808049495 21.3 DFP . PPM1B 2 44167969 44244384 Y . Y N -0.750026799 12.61793135 0.109620711 42.6 . . PPM1D 17 60600183 60666280 Y . Y N 0.33806995 72.74989871 0.001168004 64.1 DM Breast cancer, 114480 (3) PPM1F 22 21919420 21952837 Y . Y N 0.17204628 62.67291775 0.00026747 69 . . PPM1G 2 27381194 27409687 Y . Y N -0.219218665 34.36360479 0.996010386 8 . . PPM1K 4 88257620 88284769 Y . Y N -0.26232271 31.69531747 0.045466127 47.5 DM ?Maple syrup urine disease, mild variant, 615135 (3) PPME1 11 74171099 74254703 Y . Y N 0.23383407 66.45250912 0.92489377 16.4 . . PPP1CB 2 28751640 28802940 Y . Y N -0.09740902 42.25270591 0.997194974 7.4 . . PPP1R10 6 30600400 30618612 Y . Y N -1.527559683 3.212363258 0.999999768 1.3 . . PPP1R12A 12 79773563 79935460 Y . Y N -0.500354874 20.17132604 0.999179084 5.7 . . PPP1R13L 19 45379634 45406349 Y . Y N -0.865296466 10.27377438 0.002654018 60.9 . . PPP1R14C 6 150143076 150250357 Y . Y N 0.230008154 66.23835157 0.004678142 58.4 . . PPP1R15B 1 204403387 204411791 Y . Y N -0.275112083 30.96602419 0.161223928 40.1 DM? . PPP1R35 7 100435282 100436565 N Lethal Y N 0.17476603 62.85234705 0.001983487 61.9 . . PPP1R3C 10 91628442 91633054 Y . Y N -0.15536658 38.37471783 0.036881178 48.7 DM . PPP1R8 1 27830778 27851676 Y . Y N -0.085121135 43.16142849 0.95405437 14.4 . . PPP2CA 5 134194334 134226142 Y . Y N -0.065482771 44.7241998 0.985509348 10.8 . . PPP2R1A 19 52190039 52229533 Y . Y N -0.874867324 10.082769 0.719603753 24.1 FP Mental retardation, autosomal dominant 36, 616362 (3) PPP2R4 9 129110950 129148946 N Lethal Y N -0.089753398 42.80835793 0.983923153 11.1 . . PPP2R5C 14 101761798 101927989 N . Y N -0.382371374 25.31110725 0.997672663 7.2 . . PPP2R5D 6 42984499 43012342 Y . Y N -0.911427154 9.370839845 0.997520079 7.2 DM? Mental retardation, autosomal dominant 35, 616355 (3) PPP3R1 2 68178857 68256237 Y . Y N 0.082665704 55.90669676 0.88982022 18.2 . . PPP4C 16 30075978 30085377 Y . Y N -0.471606334 21.36366267 0.7595859 22.9 . . PPP4R2 3 72996785 73069199 N Lethal Y N 0.157040256 61.54424958 0.98805629 10.4 . . PPP5C 19 46346994 46392981 Y . Y N -0.691914915 14.19227875 0.99909299 5.8 . . PPP6C 9 125146573 125189939 N Lethal Y N -0.242684848 32.87607802 0.988609354 10.2 . . PPRC1 10 102132994 102150331 Y . Y N -1.559837429 3.027145917 0.999999328 1.6 . . PRC1 15 90966038 90995629 Y . Y N -0.514404546 19.65619031 0.01597584 52.8 . . PRDM1 6 106086320 106109939 Y . Y N -0.116591726 41.00248886 0.980264413 11.7 . . PRDM10 11 129899706 130002835 N Lethal Y N -0.641669892 15.63350119 0.998059991 6.9 . . PRDM16 1 3069168 3438621 Y . Y N -0.622569998 16.0907565 0.999843194 4.2 DM Left ventricular noncompaction 8, 615373 (3); Cardiomyopathy, dilated, 1LL, 615373 (3) PRDM6 5 123089121 123194266 Y . Y N . . . . . . PREP 6 105277565 105403084 N Lethal Y N -1.167356614 5.932742953 0.99104373 9.7 . . PRICKLE1 12 42456754 42590355 Y . Y N -0.474019054 21.27684204 0.991966859 9.4 DM Epilepsy, progressive myoclonic 1B, 612437 (3) PRKAB2 1 147155106 147172550 N Subviable Y N 0.133424212 59.69786421 0.767108492 22.7 . . PRKACA 19 14091688 14118084 Y . Y N -0.64322184 15.58140881 0.95905642 14 FP Cushing syndrome, ACTH-independent adrenal, somatic, 615830 (3) PRKAR1A 17 68511780 68551319 Y . Y N -0.484697758 20.7732824 0.999223269 5.6 DM Carney complex, type 1, 160980 (3); Myxoma, intracardiac, 255960 (3); Pigmented nodular adrenocortical disease, primary, 1, 610489 (3); Adrenocortical tumor, somatic, (3); Acrodysostosis 1, with or without hormone resistance, 101800 (3) PRKCH 14 61187559 61550976 Y . Y N -1.123290101 6.34948197 0.994390179 8.7 DFP {Cerebral infarction, susceptibility to}, 601367 (3) PRKCI 3 170222365 170305981 Y . Y N -0.629974609 15.88238699 0.253553082 37 . . PRKCSH 19 11435288 11450968 Y . Y N -0.107326278 41.66811368 0.140789248 41 DM Polycystic liver disease, 174050 (3) PRKD1 14 29576479 30191898 Y . Y N -0.45805624 21.96561903 2.13E-05 76.1 DM? . PRKDC 8 47773108 47960183 Y . Y N . . 1 0.1 DM Immunodeficiency 26, with or without neurologic abnormalities, 615966 (3) PRKG1 10 50991358 52298350 Y . Y N -1.02015166 7.622851189 0.999743687 4.5 DM Aortic aneurysm, familial thoracic 8, 615436 (3) PRKRA 2 178431414 178451512 Y . Y N 0.386765898 75.22718064 0.154541987 40.4 DM Dystonia 16, 612067 (3) PRMT1 19 49675786 49689029 Y . Y N -0.27924293 30.68241014 0.993587787 9 . . PRMT3 11 20387530 20509294 Y . Y N -0.049216095 45.88759623 6.29E-12 94.5 FP . PRMT5 14 22920511 22929585 Y . Y N -1.060541298 7.061411125 0.994806433 8.5 . . PROC 2 127418427 127429246 Y . Y N -0.606507878 16.56537593 0.032475443 49.3 DM Thrombophilia due to protein C deficiency, autosomal dominant, 176860 (3); Thrombophilia due to protein C deficiency, autosomal recessive, 612304 (3) PROCR 20 35172073 35177362 Y . Y N 0.265759477 68.41465532 0.010130889 54.9 DM . PROKR2 20 5302040 5314369 Y . Y N 0.032359762 52.04607281 0.000669053 66.1 DM Hypogonadotropic hypogonadism 3 with or without anosmia, 244200 (3) PROP1 5 177992235 177996242 Y . Y N 0.508729649 80.80685304 0.299126611 35.7 DM Pituitary hormone deficiency, combined, 2, 262600 (3) PROS1 3 93873033 93974066 Y . Y N 0.129093152 59.3505817 0.000209234 69.7 DM Thrombophilia due to protein S deficiency, autosomal dominant, 612336 (3); Thrombophilia due to protein S deficiency, autosomal recessive, 614514 (3) PROX1 1 213983181 214041502 Y . Y N -1.422645726 3.79695549 0.993426963 9 . . PRPF19 11 60890730 60906588 Y . Y N -0.239813643 33.09023557 0.998566696 6.4 . . PRPF3 1 150321476 150353195 Y . Y N -0.63939225 15.70295769 0.999998844 1.8 DM Retinitis pigmentosa 18, 601414 (3) PRPF31 19 54115410 54131719 Y Lethal Y N -0.449899067 22.28396134 0.968045447 13.2 DM Retinitis pigmentosa 11, 600138 (3) PRPS1 X 107628424 107651026 Y Lethal Y N -0.082402837 43.40452625 0.871770725 19 DM Gout, PRPS-related, 300661 (3); Phosphoribosylpyrophosphate synthetase superactivity, 300661 (3); Charcot-Marie-Tooth disease, X-linked recessive, 5, 311070 (3); Arts syndrome, 301835 (3); Deafness, X-linked 1, 304500 (3) PRRX1 1 170662728 170739419 Y . Y N -0.408709366 23.99722174 0.752904237 23.1 DM Agnathia-otocephaly complex, 202650 (3) PRSS8 16 31131433 31135762 Y . Y N -0.3767826 25.61787347 0.00338431 59.8 DM? . PSAP 10 71816298 71851375 Y . Y N -0.326827012 27.93309024 0.950037221 14.7 DM Metachromatic leukodystrophy due to SAP-b deficiency, 249900 (3); Gaucher disease, atypical, 610539 (3); Combined SAP deficiency, 611721 (3); Krabbe disease, atypical, 611722 (3) PSAT1 9 78297143 78330093 Y . Y N -0.184421636 36.49360421 2.11E-09 90.4 DM ?Phosphoserine aminotransferase deficiency, 610992 (3); Neu-Laxova syndrome 2, 616038 (3) PSEN1 14 73136418 73223691 Y Lethal Y N 0.141077527 60.28245644 0.997601161 7.2 DM Alzheimer disease, type 3, 607822 (3); Alzheimer disease, type 3, with spastic paraparesis and unusual plaques, 607822 (3); Alzheimer disease, type 3, with spastic paraparesis and apraxia, 607822 (3); Dementia, frontotemporal, 600274 (3); Pick disease, 172700 (3); Cardiomyopathy, dilated, 1U, 613694 (3); Acne inversa, familial, 3, 613737 (3) PSENEN 19 35745114 35747519 Y . Y N 0.038603643 52.45123575 0.53569486 29 DM Acne inversa, familial, 2, 613736 (3) PSIP1 9 15464066 15511019 Y . Y N -0.93856934 8.878856283 0.946350058 15.1 . . PSMC1 14 90256495 90275429 Y . Y N -0.313083888 28.69711177 0.995728891 8.1 . . PSMC3 11 47418769 47426473 Y . Y N -0.357145068 26.46871563 0.979199713 11.9 . . PSMC4 19 39971005 39981441 Y . Y N -0.801748514 11.52399143 0.605976546 27.3 . . PSMD14 2 161308038 161411717 N Lethal Y N 0.038603643 52.45123575 0.790099057 22 . . PSMD4 1 151254703 151267479 Y . Y N -0.507207153 19.92244024 0.984312092 11.1 . . PSMD7 16 74296775 74306288 Y . Y N -0.506249788 19.96874457 0.019332351 51.9 DFP . PSMF1 20 1113263 1189415 N Lethal Y N 0.314604136 71.36076865 0.000147582 70.7 . . PSMG1 21 39174769 39183851 Y . Y N 0.546245901 82.28280373 0.012974417 53.9 . . PSPH 7 56011051 56051604 Y Lethal Y N 1.183240604 94.88337096 0.709723367 24.4 DM Phosphoserine phosphatase deficiency, 614023 (3) PTBP1 19 797075 812327 Y . Y N -0.944009594 8.803611738 0.9987392 6.2 . . PTBP2 1 96721665 96823738 Y . Y N -0.764231802 12.32274122 0.992693429 9.3 . . PTCH1 9 95442980 95517057 Y . Y N -0.705115216 13.79290386 0.999998857 1.7 DM Basal cell nevus syndrome, 109400 (3); Basal cell carcinoma, somatic, 605462 (3); Holoprosencephaly-7, 610828 (3) PTEN 10 87863113 87971930 Y . Y N -0.320586962 28.25722058 0.975506866 12.4 DM Cowden syndrome 1, 158350 (3); Lhermitte-Duclos syndrome, 158350 (3); Bannayan-Riley-Ruvalcaba syndrome, 153480 (3); {Meningioma}, 607174 (3); {Glioma susceptibility 2}, 613028 (3); Macrocephaly/autism syndrome, 605309 (3); PTEN hamartoma tumor syndrome (3); VATER association with macrocephaly and ventriculomegaly, 276950 (3); {Prostate cancer, somatic}, 176807 (3); Malignant melanoma, somatic, 155600 (3); Endometrial carcinoma, somatic, 608089 (3); Squamous cell carcinoma, head and neck, somatic, 275355 (3) PTF1A 10 23192327 23194252 Y . Y N . . . . DM Pancreatic and cerebellar agenesis, 609069 (3); Pancreatic agenesis 2, 615935 (3) PTGER4 5 40679498 40693735 Y . Y N 0.028532581 51.68721422 0.896912957 17.9 DP . PTGES3 12 56663341 56688408 Y . Y N -0.013918082 48.39381837 0.87136585 19 . . PTGIR 19 46620468 46625118 Y . Y N 0.077226532 55.46680558 0.001360202 63.5 DFP . PTGS1 9 122370530 122395703 Y . Y N 0.418992516 76.78416392 6.41E-06 79.1 DFP . PTGS2 1 186671791 186680427 Y . Y N -0.349488013 26.84493836 0.999033116 5.9 DFP . PTH1R 3 46877746 46903799 Y . Y N -0.617686367 16.24703363 0.742389489 23.4 DM . PTHLH 12 27958084 27972705 Y . Y N -0.141470476 39.31238062 0.921296518 16.6 DM Humoral hypercalcemia of malignancy (1); Brachydactyly, type E2, 613382 (3) PTK2 8 140657900 141002216 Y . Y N -1.176627413 5.834346241 0.999992958 2.4 . . PTK7 6 43076268 43161719 Y . Y N -1.081664735 6.777797071 0.975879481 12.3 DM? . PTMA 2 231706895 231713541 N Lethal Y N 0.068616116 54.74908838 0.377491926 33.4 . . PTMS 12 6765516 6770952 N Subviable Y N 0.030143764 51.8087631 0.778967638 22.3 . . PTP4A3 8 141391993 141432454 Y . Y N 0.04243066 52.74063784 0.127669884 41.7 . . PTPMT1 11 47565430 47573461 Y Lethal Y N 0.353884195 73.67019737 0.459152455 31.1 . . PTPN11 12 112418351 112509913 Y . Y N -0.509923942 19.8066794 0.999877231 3.9 DM Noonan syndrome 1, 163950 (3); LEOPARD syndrome 1, 151100 (3); Leukemia, juvenile myelomonocytic, somatic, 607785 (3); Metachondromatosis, 156250 (3) PTPN12 7 77537275 77640071 Y Lethal Y N -0.855879784 10.46477977 0.999459859 5.2 . Colon cancer, somatic, 114500 (3) PTPN14 1 214348696 214552449 N Subviable Y N -1.043059135 7.327661052 0.991959026 9.4 DM Choanal atresia and lymphedema, 613611 (3) PTPN2 18 12785478 12929643 Y . Y N 0.418691306 76.76679979 0.995606483 8.2 DFP . PTPN23 3 47381011 47413441 Y Lethal Y N -1.770875203 2.274700469 0.647596781 26.1 . . PTPN6 12 6946468 6961316 Y . Y N -0.712510304 13.59032239 0.999911915 3.7 DM? . PTPN9 15 75463251 75579289 Y . Y N -0.515512873 19.61567402 0.986283614 10.7 . . PTPRB 12 70515866 70637440 Y . Y N -0.479727292 21.0221682 0.943502941 15.4 DP . PTPRC 1 198638671 198757283 Y . Y N -1.199823451 5.591248481 0.999941156 3.4 DM {Hepatitic C virus, susceptibility to}, 609532 (3); Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive, 608971 (3) PTPRJ 11 47980558 48170841 Y . Y N -0.101135863 42.03854836 2.39E-05 75.8 DP Colon cancer, somatic, 114500 (3) PTPRS 19 5158495 5340803 Y . Y N -3.847660631 0.266249928 0.76091506 22.8 . . PTRF 17 42402452 42423517 Y . Y N -0.11785159 40.91566823 0.020881047 51.4 DM Lipodystrophy, congenital generalized, type 4, 613327 (3) PTRH2 17 59674636 59707626 Y . Y N -0.20804097 35.04659374 0.336972394 34.7 . Infantile-onset multisystem neurologic, endocrine, and pancreatic disease, 616263 (3) PTS 11 112226365 112269955 Y . Y N -0.095495045 42.38583087 0.001156188 64.2 DM Hyperphenylalaninemia, BH4-deficient, A, 261640 (3) PURA 5 140107777 140125619 Y . Y N -0.291531924 29.91838861 0.845099484 20.1 . Mental retardation, autosomal dominant 31, 616158 (3) PXN 12 120210439 120265771 Y . Y N 0.057739082 53.92718643 0.006568411 56.9 . . PYGO2 1 154957026 154963853 Y . Y N -0.368322377 25.92463969 0.923104365 16.5 . . PYROXD1 12 21437615 21471252 N Lethal Y N -0.27063003 31.24385021 3.51E-07 84.3 . . QDPR 4 17460261 17512234 N . Y N -0.438721742 22.81646119 0.065816427 45.5 DM Hyperphenylalaninemia, BH4-deficient, C, 261630 (3) QKI 6 163414000 163578596 Y . Y N -0.545680331 18.36545697 0.963163356 13.7 DM . RAB18 10 27504174 27542237 N . Y N -0.042016662 46.43167217 0.955008595 14.3 DM Warburg micro syndrome 3, 614222 (3) RAB23 6 57186992 57222314 Y Lethal Y N 0.165349748 62.17514615 0.038517374 48.5 DM Carpenter syndrome, 201000 (3) RAB32 6 146543693 146554965 N Subviable Y N -0.318672489 28.34982925 0.008770923 55.4 . . RAB34 17 28714281 28718429 N Lethal Y N -0.187292531 36.30259883 4.68E-06 79.7 DM? . RAB35 12 120095095 120117502 N Lethal Y N 0.018007904 50.90004052 0.979782361 11.8 . . RAB40C 16 589357 629272 N Subviable Y N -0.354273411 26.59605256 0.113249055 42.5 . . RAB5C 17 42124976 42155044 Y . Y N 0.279809186 69.29443769 0.826569532 20.7 . . RABGEF1 7 66682164 66811464 Y . Y N -0.318518891 28.37876946 0.496529666 30.1 . . RABGGTA 14 24265538 24271739 N Lethal Y N -0.283722377 30.43931238 0.001339842 63.6 DM? . RAC1 7 6374523 6403977 Y . Y N -0.073942787 44.13960757 0.572395053 28.2 DM? . RACGAP1 12 49976923 50033136 Y . Y N -0.187140168 36.325751 0.786373401 22.1 . . RAD17 5 69369293 69414801 Y . Y N 0.888022062 90.90698617 0.007697435 56.1 . . RAD21 8 116845935 116874866 Y . Y N -0.780997286 11.9754587 0.999544949 5.1 DM Cornelia de Lange syndrome 4, 614701 (3) RAD23B 9 107283137 107332194 Y . Y N -0.26327977 31.63743706 0.973409007 12.6 DP . RAD50 5 132556019 132646344 Y . Y N -0.465267734 21.65306477 3.45E-15 97 DM Nijmegen breakage syndrome-like disorder, 613078 (3) RAD51 15 40694774 40732339 Y . Y N -0.115133273 41.12403774 0.990418088 9.9 DM . RAD51B 14 67819779 68730218 Y . Y N 0.693589967 86.75117208 1.46E-09 90.8 DP . RAD51C 17 58692573 58735611 Y . Y N -0.235985706 33.32175725 4.28E-09 89.7 DM Fanconi anemia, complementation group O, 613390 (3); {Breast-ovarian cancer, familial, susceptibility to, 3}, 613399 (3) RAD51D 17 35092208 35121522 Y . Y N 0.667402358 86.14921572 6.19E-07 83.3 DM {Breast-ovarian cancer, familial, susceptibility to, 4}, 614291 (3) RAD54L2 3 51541144 51668667 Y . Y N -1.733747097 2.33836893 0.999999053 1.7 . . RAD9A 11 67317871 67398410 Y . Y N 0.154320987 61.33009203 0.002325378 61.4 DP . RAD9B 12 110501655 110532086 Y . Y N 0.20573487 64.71609654 3.63E-05 74.7 . . RAE1 20 57351010 57379211 Y . Y N -0.387157394 25.09116166 0.9911693 9.7 . . RAF1 3 12583601 12664226 Y Lethal Y N -0.960122879 8.548937894 0.999776866 4.4 DM Noonan syndrome 5, 611553 (3); LEOPARD syndrome 2, 611554 (3); Cardiomyopathy, dilated, 1NN, 615916 (3) RAI1 17 17681473 17811453 Y . Y N -2.137747438 1.394918099 0.999136112 5.7 DM Smith-Magenis syndrome, 182290 (3) RALA 7 39623483 39708124 Y . Y N 0.023597424 51.32256758 0.950372431 14.7 . . RALGAPB 20 38472816 38578861 Y . Y N -1.5798283 2.91717312 0.999999956 1 . . RAMP2 17 42758447 42763041 Y . Y N 0.078032613 55.54205012 0.003892992 59.2 . . RANBP2 2 108719481 108785811 Y . Y N -1.672029547 2.55252648 0.999999999 0.6 DM {Encephalopathy, acute, infection-induced, 3, susceptibility to}, 608033 (3) RANBP9 6 13621498 13711564 Y . Y N -0.64402392 15.57562077 0.999958496 3.2 . . RANGAP1 22 41245611 41286251 Y . Y N 0.006175108 49.97395381 0.13271872 41.4 . . RAP1A 1 111542218 111716691 Y . Y N -0.09740902 42.25270591 0.934189798 15.9 . . RAP1B 12 68610839 68671901 Y . Y N -0.089905929 42.77941772 0.936825076 15.8 . . RAPGEF1 9 131576770 131740074 Y . Y N -1.33885276 4.40469989 0.99991475 3.7 DM? . RAPGEF2 4 159104178 159360169 Y . Y N -1.983342439 1.690108236 0.999996667 2.1 . . RAPSN 11 47437757 47449178 Y Lethal Y N -0.147863581 38.90142965 0.032644546 49.3 DM Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, 616326 (3); Fetal akinesia deformation sequence, 208150 (3) RARA 17 40309192 40357643 Y . Y N -0.714424723 13.54401806 0.934197317 15.9 . Leukemia, acute promyelocytic, 612376 (1) RARS 5 168486445 168519299 Y . Y N 0.210669154 65.1386236 0.00053365 66.9 . Leukodystrophy, hypomyelinating, 9, 616140 (3) RARS2 6 87514378 87590003 Y . Y N 0.075615479 55.33946866 3.49E-06 80.2 DM Pontocerebellar hypoplasia, type 6, 611523 (3) RASA1 5 87267888 87391931 Y . Y N -0.524628496 19.24523934 0.999998286 1.9 DM Parkes Weber syndrome, 608355 (3); Capillary malformation-arteriovenous malformation, 608354 (3); Basal cell carcinoma, somatic, 605462 (3) RASA3 13 113977783 114132611 Y Lethal Y N -1.544340983 3.119754587 0.000433959 67.5 . . RASIP1 19 48720587 48740721 Y . Y N -0.120570168 40.6899346 0.975494282 12.4 . . RASSF8 12 25959029 26079892 N Subviable Y N 0.094146026 56.71123459 0.84123634 20.2 . . RASSF9 12 85800697 85836570 Y . Y N 0.558530792 82.72848295 7.70E-05 72.7 . . RAX 18 59267035 59274086 Y . Y N . . 0.841214636 20.2 DM Microphthalmia, isolated 3, 611038 (3) RB1 13 48303751 48481986 Y . Y N -0.260256521 31.86317069 0.999999833 1.2 DM Retinoblastoma, 180200 (3); Osteosarcoma, somatic, 259500 (3); Bladder cancer, somatic, 109800 (3); Small cell cancer of the lung, somatic, 182280 (3); Retinoblastoma, trilateral, 180200 (3) RB1CC1 8 52622456 52745843 Y . Y N -2.081766832 1.481738728 0.999999799 1.3 DM? Breast cancer, somatic, 114480 (3) RBBP6 16 24537693 24572863 Y . Y N -2.620419281 0.873994328 0.999999003 1.7 . . RBBP8 18 22798261 23026488 Y . Y N -1.218784869 5.400243098 0.000108379 71.6 DM Pancreatic carcinoma, somatic (3); Seckel syndrome 2, 606744 (3); Jawad syndrome, 251255 (3) RBL1 20 36996349 37095995 Y . Y N -0.84536273 10.66736123 1.76E-05 76.6 . . RBL2 16 53433977 53491649 Y . Y N -1.196272557 5.62018869 0.957797036 14.1 . . RBM15 1 110338506 110346681 Y . Y N -1.649409371 2.685651444 0.999853093 4.1 DM Megakaryoblastic leukemia, acute (2) RBM19 12 113816738 113966371 Y . Y N 1.340657272 96.05255542 1.62E-05 76.8 . . RBM39 20 35703609 35742312 Y . Y N -0.569147347 17.65352781 0.999996915 2.1 . . RBMS1 2 160272151 160493794 Y Lethal Y N -0.693829603 14.14018637 0.996886207 7.6 . . RBPJ 4 26163455 26435131 Y . Y N -0.384285668 25.21271054 0.999929169 3.5 DM Adams-Oliver syndrome 3, 614814 (3) RBSN 3 15070073 15099163 N . Y N . . . . . . RBX1 22 40951347 40973309 Y . Y N 0.090168851 56.43919662 0.94024688 15.6 . . RC3H1 1 173931214 174022297 Y . Y N -1.295737567 4.711466111 0.999539903 5.1 . . RC3H2 9 122844556 122905341 Y . Y N -1.649409371 2.685651444 0.999999562 1.5 . . RCE1 11 66842835 66846546 Y . Y N -0.892747082 9.718122359 0.559303287 28.5 . . RCOR1 14 102592661 102730576 Y . Y N -0.325218356 28.00833478 0.994042795 8.8 . . RDH10 8 73294612 73325281 Y . Y N 0.14651721 60.7454998 0.934320139 15.9 . . RDX 11 110174880 110296722 N Subviable Y N -0.543611442 18.44070151 0.998954589 6 DM Deafness, autosomal recessive 24, 611022 (3) REC8 14 24171853 24180257 Y . Y N -0.520145081 19.48254905 0.526977585 29.2 . . RECK 9 36036433 36124451 Y . Y N -0.522715872 19.31469584 0.000196798 69.8 . . RECQL4 8 144511288 144517845 Y Lethal Y N . . . . DM Rothmund-Thomson syndrome, 268400 (3); RAPADILINO syndrome, 266280 (3); Baller-Gerold syndrome, 218600 (3) RELA 11 65653596 65663094 Y . Y N -0.585912632 17.20206054 0.998828468 6.1 . . RELB 19 45001430 45038198 Y . Y N -0.830649701 10.97412745 0.973562746 12.6 . . RELN 7 103471784 103989516 Y . Y N -1.584712943 2.894020953 1 0.1 DM Lissencephaly 2 (Norman-Roberts type), 257320 (3); {Epilepsy, familial temporal lobe, 7}, 616436 (3) REN 1 204154819 204166322 Y . Y N -0.462991075 21.75724952 0.006604139 56.8 DM [Hyperproreninemia] (3); Renal tubular dysgenesis, 267430 (3); Hyperuricemic nephropathy, familial juvenile 2, 613092 (3) RERE 1 8352397 8817643 Y . Y N -2.82790456 0.694565029 0.999995655 2.2 DM? . REST 4 56907876 56935844 Y Lethal Y N 0.228853046 66.15153094 0.972672071 12.7 DM? . RET 10 43077027 43130351 Y . Y N -1.062838348 7.020894831 0.999889044 3.8 DM Multiple endocrine neoplasia IIA, 171400 (3); Medullary thyroid carcinoma, 155240 (3); Multiple endocrine neoplasia IIB, 162300 (3); Central hypoventilation syndrome, congenital, 209880 (3); Pheochromocytoma, 171300 (3); Renal agenesis, 191830 (3); {Hirschsprung disease, susceptibility to, 1}, 142623 (3) REV1 2 99400475 99490035 Y . Y N -0.605108076 16.60589223 0.997023541 7.5 . . REV3L 6 111299028 111483715 Y . Y N -2.311364084 1.12288013 1 0.2 DFP . REXO2 11 114439386 114450279 N Lethal Y N 0.095908833 56.83278347 0.888428672 18.3 . . RFC1 4 39287456 39366375 N Lethal Y N -0.871555489 10.14643746 0.175487404 39.5 . . RFK 9 76385517 76394517 Y . Y N 0.405450329 76.1185391 0.523880795 29.3 . . RFNG 17 82047902 82051831 Y . Y N -0.474322733 21.23632575 5.68E-08 86.8 . . RFWD2 1 175944831 176207493 Y . Y N -0.531476218 18.93268507 0.998566093 6.4 DM . RFX1 19 13961538 14007039 Y . Y N -0.233770467 33.44909417 0.998752687 6.2 . . RFX3 9 3218297 3526004 Y . Y N -0.972259363 8.35214447 0.999773274 4.4 . . RFX4 12 106582907 106762803 Y . Y N -0.598852924 16.74480523 0.999662759 4.8 . . RFX6 6 116877212 116932163 Y . Y N -0.184118896 36.5051803 0.030046523 49.6 DM Mitchell-Riley syndrome, 615710 (3) RFX7 15 56087280 56243266 N Subviable Y N . . 0.999680946 4.7 . . RGMA 15 93035273 93089204 Y . Y N -0.330654223 27.71314464 0.010575529 54.7 DM? . RGMB 5 98768650 98798643 Y . Y N 0.21706442 65.48590612 0.060755423 45.9 . . RGP1 9 35749287 35758575 N Lethal Y N -0.138446759 39.5439023 1.51E-05 77 . . RGPD8 2 112370092 112434488 N Lethal Y N . . . . . . RGS10 10 119499828 119542708 Y . Y N 0.04051715 52.61908896 0.601559968 27.4 . . RGS14 5 177357837 177372601 Y . Y N 0.191835947 63.9231348 0.023111552 50.9 . . RGS4 1 163068775 163076802 Y . Y N 0.23383407 66.45250912 1.59E-05 76.9 . . RHBDF1 16 58059 76355 Y . Y N 0.429522329 77.36296811 3.65E-06 80.2 . . RHBDL1 16 675666 678268 N Subviable Y N -0.473365526 21.30578225 0.494734022 30.1 . . RHBDL3 17 32266176 32324661 N Subviable Y N -0.577452276 17.42779418 0.001523114 63 . . RHEB 7 151466012 151520120 Y . Y N 0.11459153 58.34925045 0.954420413 14.4 . . RHOT1 17 32142454 32253374 Y . Y N -0.36545112 26.11564508 0.955425773 14.3 . . RIC8A 11 207511 215113 Y . Y N -0.395311308 24.65127048 0.000378553 68 . . RIC8B 12 106774595 106889316 N Lethal Y N -0.223850595 34.10314291 0.997486827 7.3 . . RICTOR 5 38937919 39074408 Y . Y N -2.29671615 1.140244255 1 0.5 . . RIF1 2 151409883 151508013 Y . Y N -0.947677339 8.751519361 0.999999997 0.7 . . RIMS1 6 71886703 72403143 Y . Y N -1.672750948 2.546738438 0.029211449 49.8 DM Cone-rod dystrophy 7, 603649 (3) RINT1 7 105532085 105567677 Y Lethal Y N -0.360515672 26.30086242 1.93E-06 81.4 . . RIPK1 6 3063991 3115187 Y . Y N -0.447832968 22.39393413 0.4181774 32.3 . . RIPK4 21 41739369 41767106 Y . Y N -0.825577938 11.04358396 0.001206596 64 DM Popliteal pterygium syndrome 2, lethal type, 263650 (3) RIPPLY2 6 83853266 83857515 Y . Y N 0.100541925 57.24952249 0.078765748 44.5 . ?Spondylocostal dysostosis 6, 616566 (3) RIPPLY3 21 37006150 37019659 Y . Y N 0.581850138 83.55617295 2.12E-06 81.2 . . RLF 1 40161373 40240921 Y . Y N -0.615199817 16.33385426 0.999999867 1.2 . . RLIM X 74585217 74614617 Y . Y N -0.010895966 48.63112809 0.991772915 9.5 . . RMI1 9 83980711 84004074 Y . Y N -0.003241475 49.17520403 0.003097098 60.2 DP . RNASEH1 2 3544793 3558616 Y . Y N -0.495874865 20.37969555 0.016415654 52.7 . Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2, 616479 (3) RNASEH2B 13 50909678 50973745 Y . Y N 0.335200382 72.59362158 1.30E-09 90.9 DM Aicardi-Goutieres syndrome 2, 610181 (3) RNASEH2C 11 65714896 65720947 Y . Y N -0.002587674 49.23887249 0.511931592 29.6 DM Aicardi-Goutieres syndrome 3, 610329 (3) RNF111 15 58865175 59097419 Y . Y N -0.737445745 12.95942583 0.999889183 3.8 . . RNF2 1 185045364 185102608 Y . Y N 0.079946001 55.69832726 0.944004162 15.3 . . RNF20 9 101533851 101563344 N Lethal Y N -0.974980404 8.305840134 0.000923365 65 DM . RNF31 14 24146683 24160661 Y . Y N -0.48409792 20.79643457 0.999718687 4.6 . . RNF38 9 36336396 36487548 N Subviable Y N -0.917973275 9.260867049 0.999390257 5.4 DM? . RNF4 4 2462220 2625320 Y . Y N 0.542421446 82.15546681 0.628950995 26.7 . . RNF7 3 141738204 141747560 Y . Y N 0.015137522 50.6627308 0.014527327 53.3 . . RNMTL1 17 782273 792509 N Lethal Y N -0.344703456 27.01857961 1.82E-07 85.3 . . ROBO1 3 78597240 79767815 Y . Y N -1.386257537 4.034265208 3.04E-08 87.6 DM? . ROBO2 3 75906695 77649964 Y . Y N -1.115241844 6.413150431 0.99999613 2.1 DM Vesicoureteral reflux 2, 610878 (3) ROBO3 11 124865386 124881470 Y . Y N 0.344430638 73.09718122 0.028612011 49.9 DM Gaze palsy, horizontal, with progressive scoliosis, 607313 (3) ROBO4 11 124883691 124898500 N Subviable Y N 1.779759796 98.14203855 1.67E-09 90.7 . . ROCK1 18 20946906 21111851 Y Subviable Y N -1.011542625 7.703883776 0.999996548 2.1 DP . ROCK2 2 11179761 11348330 Y . Y N -0.57060426 17.63037564 0.99999999 0.8 DP . ROR1 1 63774022 64181498 Y . Y N -0.70294221 13.8392082 0.906688532 17.5 . . ROR2 9 91563091 91950162 Y . Y N 0.29845321 70.38837761 0.464718606 31 DM Brachydactyly, type B1, 113000 (3); Robinow syndrome, autosomal recessive, 268310 (3) RORA 15 60488284 61229319 Y Subviable Y N -0.735020179 13.01730625 0.95319655 14.5 DM . RPA1 17 1829702 1900082 Y Lethal Y N -0.599809597 16.72744111 0.308711196 35.5 FP . RPAP2 1 92298965 92402056 Y . Y N -0.286592944 30.25409504 0.002085534 61.7 . . RPGRIP1L 16 53597683 53703938 Y . Y N 0.608963319 84.41859119 1.20E-18 98.4 DM Joubert syndrome 7, 611560 (3); Meckel syndrome 5, 611561 (3); COACH syndrome, 216360 (3) RPIA 2 88691644 88750935 Y . Y N 0.051847216 53.50465937 0.005909113 57.3 DM ?Ribose 5-phosphate isomerase deficiency, 608611 (3) RPL24 3 101681091 101686782 Y . Y N -0.172439875 37.20553337 0.864299873 19.3 . . RPL27A 11 8682411 8714759 Y . Y N -0.095495045 42.38583087 0.867199854 19.2 . . RPL29 3 51993600 51995942 Y . Y N -0.093581117 42.57683626 0.59726203 27.5 . . RPL38 17 74203582 74210655 Y . Y N 0.052653149 53.55096371 0.890753138 18.2 . . RPN2 20 37178410 37241623 Y . Y N 0.479017244 79.71291312 0.031677343 49.4 DM? . RPS19 19 41859918 41872926 Y . Y N -0.254016546 32.19887712 0.9239928 16.4 DM Diamond-Blackfan anemia 1, 105650 (3) RPS19BP1 22 39529093 39532855 N Subviable Y N -0.065482771 44.7241998 0.005897984 57.3 . . RPS20 8 56067295 56074581 Y . Y N 0.267523946 68.51884008 0.686321059 25 . . RPS7 2 3575205 3580919 Y . Y N -0.155519548 38.35156567 0.907087093 17.5 DM Diamond-Blackfan anemia 8, 612563 (3) RPSA 3 39406689 39412542 Y . Y N -0.411581382 23.84673265 0.751851426 23.1 DM Asplenia, isolated congenital, 271400 (3) RPTOR 17 80544819 80966371 Y Lethal Y N -2.567092114 0.920298663 0.999999983 0.9 . . RQCD1 2 218568580 218597080 Y . Y N -0.246513473 32.65613243 0.930277945 16.1 . . RRAGA 9 19049395 19050983 Y . Y N -0.252102165 32.32621404 0.291376609 35.9 . . RRM2 2 10122328 10131419 N Lethal Y N -0.227678773 33.88319731 0.968270921 13.2 . . RRN3 16 15060022 15094317 Y . Y N 0.382434228 75.04775135 0.00047458 67.2 . . RRP8 11 6595075 6603620 N Subviable Y N -0.204865148 35.18550674 6.40E-06 79.1 . . RSBN1 1 113761832 113812476 N Lethal Y N -0.73678193 12.99415408 0.805139688 21.4 . . RSF1 11 77659996 77821017 N Lethal Y N -0.298282222 29.54795393 0.999999963 1 . . RSPH9 6 43645046 43672599 N Subviable Y N 0.025662211 51.48463275 0.004900378 58.2 DM Ciliary dyskinesia, primary, 12, 612650 (3) RSPO2 8 107899316 108083648 Y . Y N 0.052803966 53.57411588 0.69114045 24.9 DM? . RSPO3 6 127118604 127197765 Y . Y N -0.138599374 39.52075013 0.043976319 47.7 . . RTEL1 20 63657810 63696253 Y . Y N 0.73896402 87.81617179 0.777758475 22.4 DM Dyskeratosis congenita, autosomal recessive 5, 615190 (3); Dyskeratosis congenita, autosomal dominant 4, 615190 (3); Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3, 616373 (3) RTF1 15 41408408 41483563 Y . Y N -0.528759206 19.07738612 0.993637764 9 DM? . RTL1 14 100880655 100884847 Y . Y N . . 0.008166484 55.8 . . RTN4 2 54972187 55112621 Y . Y N -0.482186154 20.88904324 0.010835356 54.6 . . RTTN 18 70003793 70205945 Y . Y N -1.606523025 2.807200324 2.40E-13 95.8 DM Polymicrogyria with seizures, 614833 (3) RUFY3 4 70704204 70807315 N Lethal Y N -0.43202169 23.08849916 0.980976379 11.6 . . RUNDC1 17 42980565 42993690 Y Subviable Y N 0.561400373 82.79215142 0.018920491 52 . . RUNX1 21 34787801 36004667 Y . Y N 0.155126864 61.40533657 0.449323607 31.4 DM Leukemia, acute myeloid, 601626 (3); Platelet disorder, familial, with associated myeloid malignancy, 601399 (3) RUNX1T1 8 91954967 92103286 Y . Y N -0.906641191 9.463448515 0.999121688 5.7 DM . RUNX2 6 45328157 45664349 Y . Y N -0.697503755 14.01863749 0.995958899 8 DM Cleidocranial dysplasia, 119600 (3); Cleidocranial dysplasia, forme fruste, with brachydactyly, 119600 (3); Cleidocranial dysplasia, forme fruste, dental anomalies only, 119600 (3); Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly, 156510 (3) RUNX3 1 24899511 24965121 Y . Y N -0.277328762 30.80974706 0.673967692 25.4 DFP . RUVBL2 19 48993448 49015995 Y . Y N -0.833520891 10.91045899 0.99911008 5.8 . . RWDD3 1 95234155 95247225 N Lethal Y N -0.138599374 39.52075013 1.52E-06 81.9 . . RXRA 9 134317098 134440585 Y . Y N -0.841024296 10.75418186 0.943607123 15.3 . . RXRB 6 33193588 33200688 Y . Y N -0.600117693 16.70428894 0.997594351 7.2 . . RYBP 3 72371825 72446918 Y . Y N . . . . . . RYK 3 134065303 134250744 Y . Y N . . . . DM . RYR1 19 38433699 38587564 Y . Y N -6.701742431 0.02894021 1.61E-07 85.5 DM {Malignant hyperthermia susceptibility 1}, 145600 (3); Central core disease, 117000 (3); Minicore myopathy with external ophthalmoplegia, 255320 (3); Neuromuscular disease, congenital, with uniform type 1 fiber, 117000 (3); King-Denborough syndrome, 145600 (3) RYR2 1 237042205 237833988 Y Lethal Y N -6.592606883 0.034728251 0.999999934 1 DM Ventricular tachycardia, catecholaminergic polymorphic, 1, 604772 (3); Arrhythmogenic right ventricular dysplasia 2, 600996 (3) S100A14 1 153614255 153616986 N Subviable Y N 0.108045035 57.83990276 0.057046954 46.3 DFP . S100A4 1 153543613 153550136 Y . Y N -0.043930449 46.31591133 0.004651459 58.5 . . S100A6 1 153534599 153536244 N Subviable Y N 0.493577577 80.20489668 0.178917966 39.4 . . S100A8 1 153390032 153391188 Y . Y N -0.006414986 48.96104648 0.186216605 39.1 . . S1PR1 1 101236888 101241518 Y . Y N -0.309255099 28.96336169 0.484814895 30.4 DFP . S1PR2 19 10221435 10231272 Y . Y N 0.045452123 53.0242519 0.127343395 41.7 . . S1PR4 19 3172346 3180332 Y . Y N 0.58486661 83.67772183 0.520047224 29.5 . . SAA2 11 18239223 18248643 Y . Y N 0.588397468 83.79348266 0.028655399 49.9 DP . SACM1L 3 45689056 45745424 N Lethal Y N -0.296009812 29.68107889 0.721901743 24 . . SAFB 19 5623035 5668478 Y . Y N -1.422496882 3.802743532 0.999685074 4.7 . . SALL1 16 51135975 51151367 Y . Y N -0.781240008 11.95230653 0.994674178 8.5 DM Townes-Brocks syndrome, 107480 (3); Townes-Brocks branchiootorenal-like syndrome, 107480 (3) SALL2 14 21521081 21537216 N . Y N -0.293647581 29.78526365 1.78E-05 76.6 . ?Coloboma, ocular, autosomal recessive, 216820 (3) SALL3 18 78980275 79002677 Y . Y N -0.435111858 22.94379811 0.090193129 43.8 . . SALL4 20 51782331 51802520 Y . Y N -0.844268551 10.68472536 0.999442034 5.3 DM Duane-radial ray syndrome, 607323 (3); IVIC syndrome, 147750 (3) SAP130 2 127941217 128028120 Y . Y N -1.712314436 2.407825433 0.998572964 6.4 . . SAR1B 5 134601144 134649271 Y . Y N -0.367520149 25.97673207 0.006300416 57 DM Chylomicron retention disease, 246700 (3) SATB1 3 18345387 18445588 Y Lethal Y N -1.325091417 4.514672686 0.856613872 19.6 . . SATB2 2 199269500 199471266 Y Subviable Y N -1.205027688 5.516003936 0.999563007 5 DM Glass syndrome, 612313 (3) SAV1 14 50632058 50668331 Y . Y N -0.115937794 41.07194536 0.777230367 22.4 . . SBDS 7 66987677 66995601 Y . Y N -0.037232312 46.79053076 0.119263624 42.1 DM Shwachman-Diamond syndrome, 260400 (3); {Aplastic anemia, susceptibility to}, 609135 (3) SBF1 22 50445000 50475024 Y . Y N -3.410951384 0.428315101 0.690538814 24.9 DM Charcot-Marie-Tooth disease, type 4B3, 615284 (3) SBNO2 19 1107636 1174283 Y . Y N . . 0.024423765 50.6 . . SC5D 11 121292453 121308694 Y . Y N -0.105716346 41.73178214 0.103132835 42.9 . . SCD 10 100347124 100364834 Y . Y N -0.437764465 22.83961336 0.887398176 18.3 DP . SCG5 15 32641676 32697098 Y . Y N -0.092624171 42.6520808 1.07E-05 77.9 . . SCHIP1 3 159839861 159897360 Y . Y N -0.38061162 25.41529201 0.956602926 14.2 . . SCN1A 2 165989160 166128047 Y . Y N -1.764604749 2.292064595 1 0.5 DM Epilepsy, generalized, with febrile seizures plus, type 2, 604403 (3); Dravet syndrome, 607208 (3); Migraine, familial hemiplegic, 3, 609634 (3); Febrile seizures, familial, 3A, 604403 (3) SCN1B 19 35030684 35040448 Y . Y N -0.438721742 22.81646119 0.205166938 38.6 DM Epilepsy, generalized, with febrile seizures plus, type 1, 604233 (3); Brugada syndrome 5, 612838 (3); Cardiac conduction defect, nonspecific, 612838 (3); Atrial fibrillation, familial, 13, 615377 (3) SCN2A 2 165239402 165392310 Y . Y N -2.596172478 0.891358453 0.999999992 0.8 DM Seizures, benign familial infantile, 3, 607745 (3); Epileptic encephalopathy, early infantile, 11, 613721 (3) SCN3A 2 165087522 165204067 Y . Y N -2.780952629 0.72929328 0.999999993 0.8 DM . SCN4A 17 63938554 63972918 Y Lethal Y N -0.324864347 28.03148695 0.010441935 54.8 DM Hyperkalemic periodic paralysis, type 2, 170500 (3); Paramyotonia congenita, 168300 (3); Myotonia congenita, atypical, acetazolamide-responsive, 608390 (3); Myasthenic syndrome, congenital, 16, 614198 (3); Hypokalemic periodic paralysis, type 2, 613345 (3) SCN5A 3 38548057 38649673 Y . Y N 0.033577713 52.11552932 0.995747527 8.1 DM Long QT syndrome-3, 603830 (3); Brugada syndrome 1, 601144 (3); Heart block, progressive, type IA, 113900 (3); Heart block, nonprogressive, 113900 (3); Ventricular fibrillation, familial, 1, 603829 (3); Sick sinus syndrome 1, 608567 (3); Cardiomyopathy, dilated, 1E, 601154 (3); {Sudden infant death syndrome, susceptibility to}, 272120 (3); Atrial fibrillation, familial, 10, 614022 (3) SCN8A 12 51590266 51812864 Y . Y N -2.894715732 0.63668461 0.99999829 1.9 DM ?Cognitive impairment with or without cerebellar ataxia, 614306 (3); Epileptic encephalopathy, early infantile, 13, 614558 (3) SCN9A 2 166195185 166375993 Y . Y N 0.147741958 60.85547259 9.30E-13 95.3 DM Erythermalgia, primary, 133020 (3); Paroxysmal extreme pain disorder, 167400, (3); Insensitivity to pain, congenital, 243000 (3); Febrile seizures, familial, 3B, 613863 (3); Epilepsy, generalized, with febrile seizures plus, type 7, 613863 (3); Small fiber neuropathy, 133020 (3); {Dravet syndrome, modifier of}, 607208 (3); HSAN2D, autosomal recessive, 243000 (3) SCNN1A 12 6346843 6377730 Y . Y N -0.008679381 48.75267697 9.40E-06 78.2 DM Pseudohypoaldosteronism, type I, 264350 (3); Bronchiectasis with or without elevated sweat chloride 2, 613021 (3) SCNN1B 16 23278231 23381299 Y Lethal Y N 0.043841622 52.86218672 0.000701537 66 DM Liddle syndrome, 177200 (3); Pseudohypoaldosteronism, type I, 264350 (3); Bronchiectasis with or without elevated sweat chloride 1, 211400 (3) SCNN1G 16 23182715 23216883 Y . Y N -0.492851728 20.48966835 0.368698569 33.7 DM Liddle syndrome, 177200 (3); Pseudohypoaldosteronism, type I, 264350 (3); Bronchiectasis with or without elevated sweat chloride 3, 613071 (3) SCO1 17 10672474 10698375 Y . Y N -0.158237463 38.14319616 0.507628824 29.7 DM Mitochondrial complex IV deficiency, 220110 (3) SCO2 22 50523568 50526439 Y . Y N 0.24898988 67.40753603 0.000101907 71.8 DM Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377 (3); Myopia 6, 608908 (3) SCRIB 8 143790920 143815379 Y Lethal Y N -0.877595694 9.990160329 0.913273181 17.1 DM . SCUBE1 22 43197283 43343388 Y . Y N -0.362133012 26.242982 0.960878306 13.9 . . SDCCAG8 1 243256034 243500092 Y . Y N -0.140057468 39.41077733 1.33E-07 85.8 DM Senior-Loken syndrome 7, 613615 (3); Bardet-Biedl syndrome 16, 615993 (3) SDHA 5 218241 256700 N Lethal Y N 0.021332626 51.17207849 9.39E-06 78.2 DM Leigh syndrome, 256000 (3); Mitochondrial respiratory chain complex II deficiency, 252011 (3); Cardiomyopathy, dilated, 1GG, 613642 (3); Paragangliomas 5, 614165 (3) SDHB 1 17018722 17054170 N Lethal Y N 0.228244069 66.13416681 0.050102772 47 DM Paragangliomas 4, 115310 (3); Pheochromocytoma, 171300 (3); Paraganglioma and gastric stromal sarcoma, 606864 (3); Cowden syndrome 2, 612359 (3); Gastrointestinal stromal tumor, 606764 (3) SDHC 1 161314257 161375340 Y Lethal Y N -0.040102903 46.61110146 0.095419956 43.4 DM Paragangliomas 3, 605373 (3); Paraganglioma and gastric stromal sarcoma, 606864 (3); Gastrointestinal stromal tumor, 606764 (3) SDHD 11 112086773 112120013 Y . Y N 0.102455237 57.40579962 0.705440048 24.5 DM Paragangliomas 1, with or without deafness, 168000 (3); Pheochromocytoma, 171300 (3); Carcinoid tumors, intestinal, 114900 (3); Merkel cell carcinoma, somatic (3); Paraganglioma and gastric stromal sarcoma, 606864 (3); Cowden syndrome 3, 615106 (3); Mitochondrial complex II deficiency, 252011 (3) SEC22B 1 120150898 120176515 Y . Y N . . . . . . SEC23A 14 39031919 39109646 Y . Y N -1.116743038 6.395786305 0.000127976 71.1 DM Craniolenticulosutural dysplasia, 607812 (3) SEC23B 20 18507493 18561415 Y . Y N -0.501162499 20.0960815 6.86E-14 96.2 DM Dyserythropoietic anemia, congenital, type II, 224100 (3) SEC24B 4 109433772 109540896 Y . Y N -0.983157836 8.178503212 0.999867447 4 DM . SEC24D 4 118722823 118838683 Y . Y N 0.179048666 63.10702089 0.002094212 61.7 . Cole-Carpenter syndrome 2, 616294 (3) SEC63 6 107867756 107958189 Y . Y N -0.73678193 12.99415408 1.24E-05 77.5 DM Polycystic liver disease, 174050 (3) SECISBP2 9 89318506 89359662 Y . Y N -1.125869983 6.332117845 1.29E-09 91 DM Thyroid hormone metabolism, abnormal, 609698 (3) SEH1L 18 12947133 12987536 Y . Y N -0.191924635 36.05950107 0.745892347 23.3 . . SEL1L 14 81471549 81533861 Y . Y N -0.749875342 12.63529548 0.704308255 24.5 DP . SEMA3A 7 83955777 84492724 Y . Y N 0.351464982 73.46761591 0.988432782 10.3 DM {Hypogonadotropic hypogonadism 16 with or without anosmia}, 614897 (3) SEMA3C 7 80742538 80922359 Y . Y N -1.019046351 7.651791399 0.296856254 35.8 . . SEMA3F 3 50155045 50189075 N Subviable Y N -0.902667102 9.521328934 0.9999177 3.6 . . SEMA4C 2 96859716 96870757 Y . Y N 0.074810485 55.25264803 0.999373139 5.4 FTV . SEMA5A 5 9035026 9546075 Y . Y N -0.999942291 7.860160908 0.000979594 64.8 DM? . SENP1 12 48042898 48106308 Y . Y N -0.568991981 17.68825606 0.993896902 8.9 . . SENP2 3 185582496 185633551 Y . Y N -0.720013589 13.41089309 0.998304834 6.7 . . SENP6 6 75601509 75718278 Y . Y N -0.123944399 40.50471725 0.999876822 4 . . SEPP1 5 42799880 42887392 Y . Y N 0.57353725 83.21467847 3.00E-08 87.6 DP . SEPT7 7 35800932 35907105 N . Y N . . 0.9923775 9.3 . . SEPT9 17 77280569 77500596 Y . Y N -0.236640191 33.26387683 0.892006146 18.1 DM Leukemia, acute myeloid, therapy-related (1); Ovarian carcinoma (1); Amyotrophy, hereditary neuralgic, 162100 (3) SERP1 3 150541994 150603228 Y . Y N 0.098628637 57.02378885 0.211802393 38.4 . . SERPINA1 14 94376747 94390693 Y . Y N 0.844762943 90.11402443 3.66E-07 84.2 DM Emphysema due to AAT deficiency, 613490 (3); Emphysema-cirrhosis, due to AAT deficiency, 613490 (3); Hemorrhagic diathesis due to \'antithrombin\' Pittsburgh, 613490 (3); {Pulmonary disease, chronic obstructive, susceptibility to}, 606963 (1) SERPINC1 1 173903804 173917378 Y . Y N 0.013526612 50.54118192 0.993263587 9.1 DM Thrombophilia due to antithrombin III deficiency, 613118 (3) SERPIND1 22 20773879 20787720 Y . Y N -0.130792007 40.01852173 2.80E-05 75.4 DM Thrombophilia due to heparin cofactor II deficiency, 612356 (3) SERPINH1 11 75562056 75572783 Y . Y N -0.76870886 12.24170863 0.16655085 39.9 DM {Preterm premature rupture of the membranes, susceptibility to}, 610504 (3); ?Osteogenesis imperfecta, type X, 613848 (3) SESTD1 2 179101692 179264790 Y . Y N -1.029569457 7.489726226 0.989112553 10.1 . . SETBP1 18 44680173 45068510 N Subviable Y N -0.793385396 11.69184465 0.999002929 5.9 DM Schinzel-Giedion midface retraction syndrome, 269150 (3); Mental retardation, autosomal dominant 29, 616078 (3) SETD1A 16 30957294 30985116 Y . Y N -2.706686144 0.787173699 0.999996231 2.1 . . SETD1B 12 121804180 121832584 Y . Y N . . 0.022456316 51.1 . . SETD5 3 9397615 9479240 Y . Y N -1.49250636 3.420732766 0.999999564 1.5 DM? Mental retardation, autosomal dominant 23, 615761 (3) SETD7 4 139495941 139606699 Y . Y N -0.118808507 40.85199977 0.293260031 35.9 . . SETD8 12 123383773 123409358 Y . Y N -0.089753398 42.80835793 0.945359271 15.2 DP . SETDB1 1 150926263 150964744 Y . Y N -1.0864395 6.702552526 0.999996684 2.1 DM? . SF1 11 64764606 64778786 Y . Y N -0.490132566 20.5938531 0.998855017 6.1 . . SF3A1 22 30331988 30356947 Y . Y N -0.678669157 14.53956127 0.994075396 8.8 . . SF3B1 2 197389784 197435091 Y . Y N -1.391671612 3.982172831 0.999999973 0.9 . Myelodysplastic syndrome, somatic, 614286 (3) SFN 1 26863138 26864457 Y . Y N 0.165349748 62.17514615 0.490890062 30.2 . . SFPQ 1 35176378 35193148 Y . Y N -0.685368969 14.36592001 0.99952726 5.1 DM? . SFTPA1 10 79610939 79615455 N . Y N 0.641066664 85.39098223 0.000541612 66.8 DP {Pulmonary fibrosis, idiopathic, susceptibility to}, 178500 (3) SFTPB 2 85657314 85668741 Y . Y N 0.945029929 91.9198935 0.040741579 48.2 DM Surfactant metabolism dysfunction, pulmonary, 1, 265120 (3) SGOL1 3 20160593 20186292 Y . Y N 0.279153051 69.27128552 2.46E-07 84.8 . Chronic atrial and intestinal dysrhythmia, 616201 (3) SGPL1 10 70815961 70881173 Y Lethal Y N -0.838153116 10.79469815 0.122514048 42 . . SGPP1 14 63684214 63728039 Y . Y N -0.203255573 35.26075129 0.500345893 29.9 . . SH2B1 16 28846600 28874212 Y . Y N -0.691613434 14.19806679 0.95682971 14.2 DM . SH2D3C 9 127738317 127778741 Y . Y N -0.113721602 41.21664641 0.000941187 65 . . SH3PXD2B 5 172325181 172454523 Y . Y N 0.357363532 73.81489842 0.018536793 52.1 DM Frank-ter Haar syndrome, 249420 (3) SHANK2 11 70467856 71252577 Y . Y N . . 0.99992017 3.6 DM {Autism susceptibility 17}, 613436 (3) SHANK3 22 50674415 50733298 N . Y N . . 0.99983962 4.2 DM Phelan-McDermid syndrome, 606232 (3); {Schizophrenia 15}, 613950 (3) SHB 9 37919134 38069211 Y . Y N . . 0.744183629 23.3 . . SHC1 1 154962298 154974395 Y . Y N -0.524777749 19.22787521 0.341634863 34.5 . . SHH 7 155799986 155812273 Y Lethal Y N -0.372151226 25.76836256 0.912961328 17.1 DM Holoprosencephaly-3, 142945 (3); Single median maxillary central incisor, 147250 (3); Microphthalmia with coloboma 5, 611638 (3); Schizencephaly, 269160 (3) SHISA2 13 26044597 26051031 Y . Y N 0.583762331 83.63720553 0.404087524 32.6 . . SHOC2 10 110919547 111013667 Y . Y N -0.466819625 21.58360827 0.991705192 9.5 DM Noonan-like syndrome with loose anagen hair, 607721 (3) SHOX2 3 158095954 158106503 Y . Y N -0.733260961 13.05782254 0.085211228 44.1 . . SHROOM3 4 76435100 76783253 Y . Y N 0.671427667 86.21867222 0.732358844 23.7 DM . SIK3 11 116843402 117098437 Y . Y N -0.710157331 13.62505065 0.999882541 3.9 . . SIL1 5 138946720 139293557 Y . Y N 0.250903275 67.50593274 0.000933875 65 DM Marinesco-Sjogren syndrome, 248800 (3) SIM1 6 100385015 100464929 Y . Y N -1.039645618 7.391329513 0.996936183 7.6 DM Obesity, severe, 601665 (3) SIM2 21 36699133 36749917 Y . Y N -0.493808428 20.44915205 0.178825369 39.4 . . SIN3A 15 75369379 75455842 Y . Y N -2.052927999 1.528043063 0.999999941 1 . . SIN3B 19 16829400 16880353 Y . Y N -1.029136482 7.501302309 0.992239405 9.4 . . SIRT1 10 67884669 67918390 Y Subviable Y N -0.551114598 18.16866354 0.951787841 14.6 DM . SIRT6 19 4174109 4182604 Y . Y N -0.030686146 47.24199803 0.054471157 46.5 . . SIX1 14 60643415 60658259 Y . Y N -0.317715301 28.40770967 0.926377064 16.3 DM Brachiootic syndrome 3, 608389 (3); Deafness, autosomal dominant 23, 605192 (3) SIX2 2 45005161 45009430 Y . Y N -0.088796495 42.91254269 0.870283342 19 DM . SIX3 2 44941898 44946077 Y . Y N 0.075313076 55.32210453 0.348879194 34.2 DM Holoprosencephaly-2, 157170 (3); Schizencephaly, 269160 (3) SKA2 17 59109951 59155269 N Lethal Y N -0.072985841 44.23221624 0.000501074 67 . . SKI 1 2228695 2310119 Y . Y N -0.869123828 10.20431788 0.9814021 11.5 DM Shprintzen-Goldberg syndrome, 182212 (3) SKIDA1 10 21513478 21526368 N Subviable Y N -0.029577629 47.32881866 . . . . SKIL 3 170357678 170396835 Y . Y N -0.358752744 26.36453088 0.459267763 31.1 . . SKIV2L 6 31959080 31969755 Y . Y N -0.583412369 17.28309313 1.11E-15 97.3 DM Trichohepatoenteric syndrome 2, 614602 (3) SKOR2 18 47212089 47249183 Y . Y N . . 0.611171343 27.2 . . SLC11A2 12 50979401 51028566 Y . Y N -0.150582092 38.66990797 0.006235237 57.1 DM . SLC12A1 15 48191664 48304078 Y . Y N -0.153956776 38.47890259 2.65E-07 84.7 DM Bartter syndrome, type 1, 601678 (3) SLC12A2 5 128083766 128189688 Y . Y N -1.727324687 2.355733056 0.999438622 5.3 . . SLC12A5 20 46021690 46060152 Y . Y N -1.737695422 2.332580888 0.999987272 2.6 . . SLC16A1 1 112911847 112957013 Y . Y N -0.000522543 49.39514962 0.826067878 20.8 DM Erythrocyte lactate transporter defect, 245340 (3); Hyperinsulinemic hypoglycemia, familial, 7, 610021 (3); Monocarboxylate transporter 1 deficiency, 616095 (3) SLC17A5 6 73593379 73654155 Y . Y N -0.333524957 27.5684436 0.022196175 51.1 DM Salla disease, 604369 (3); Sialic acid storage disorder, infantile, 269920 (3) SLC17A6 11 22338097 22379503 Y . Y N -1.04361964 7.310296927 0.857098873 19.6 . . SLC17A7 19 49429401 49442360 Y . Y N -0.387960287 25.05064537 0.995932825 8 . . SLC18A2 10 117241093 117279430 Y . Y N -0.58863046 17.126816 0.971755219 12.8 . . SLC18A3 10 49610301 49612720 Y . Y N -0.419734093 23.5226023 0.161377082 40.1 . . SLC19A1 21 45493572 45544411 Y . Y N -0.199275692 35.5385773 0.0123881 54 DFP . SLC1A2 11 35251206 35420063 Y . Y N -0.946072869 8.786247612 0.907792747 17.5 DFP . SLC1A3 5 36606355 36688334 N Subviable Y N -0.340071051 27.25010129 0.432519796 31.9 DM Episodic ataxia, type 6, 612656 (3) SLC20A1 2 112645857 112663827 Y . Y N -0.875670325 10.06540487 0.725656583 23.9 . . SLC20A2 8 42416475 42541926 N Subviable Y N -1.228344669 5.330786595 0.86442958 19.3 DM Basal ganglia calcification, idiopathic, 1, 213600 (3) SLC23A1 5 139367196 139384553 Y . Y N -0.036123783 46.87156335 0.024322306 50.6 DP . SLC23A2 20 4852356 5010293 Y . Y N -0.998597841 7.883313075 0.511221637 29.6 . . SLC24A4 14 92322581 92501483 N Subviable Y N 0.162932629 61.98414077 3.17E-06 80.4 DM [Skin/hair/eye pigmentation 6, blond/brown hair], 210750 (3); [Skin/hair/eye pigmentation 6, blue/green eyes], 210750 (3); Amelogenesis imperfecta, type IIA5, 615887 (3) SLC25A12 2 171784370 171999859 Y . Y N -1.04361964 7.310296927 0.887050482 18.3 DM Hypomyelination, global cerebral, 612949 (3) SLC25A19 17 75272981 75289510 Y . Y N 0.087599756 56.28870753 0.929610776 16.2 DM Microcephaly, Amish type, 607196 (3); Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710 (3) SLC25A20 3 48856931 48898993 Y . Y N -0.264236856 31.60849685 2.05E-07 85.1 DM Carnitine-acylcarnitine translocase deficiency, 212138 (3) SLC25A26 3 66133610 66388116 Y . Y N 0.421412982 76.87677259 4.24E-09 89.8 . . SLC25A3 12 98593591 98606379 N Lethal Y N -0.686326345 14.33119176 0.071557649 45 DM Mitochondrial phosphate carrier deficiency, 610773 (3) SLC25A37 8 23528805 23575463 Y . Y N -0.465862421 21.6299126 0.512222995 29.6 . . SLC26A3 7 107765467 107803225 Y . Y N 0.263342657 68.24101406 3.08E-10 92.1 DM Diarrhea 1, secretory chloride, congenital, 214700 (3) SLC27A4 9 128340646 128361470 Y . Y N -1.008674634 7.761764195 0.00122184 63.9 DM Ichthyosis prematurity syndrome, 608649 (3) SLC2A1 1 42925375 42959173 Y . Y N -0.782911829 11.91179024 0.93980813 15.6 DM GLUT1 deficiency syndrome 1, 606777 (3); GLUT1 deficiency syndrome 2, 612126 (3); {Epilepsy, idiopathic generalized, suscpetibility to, 12}, 614847 (3); Dystonia 9, 601042 (3) SLC2A2 3 170996348 171026750 Y Lethal Y N -0.203103007 35.27811541 7.53E-05 72.8 DM {Diabetes mellitus, noninsulin-dependent}, 125853 (3); Fanconi-Bickel syndrome, 227810 (3) SLC2A3 12 7919230 7936275 Y . Y N 0.345723482 73.17242577 0.519822946 29.5 . . SLC2A8 9 127397138 127408424 Y . Y N 0.467536051 79.21514152 0.237274588 37.5 . . SLC2A9 4 9771153 10054936 Y . Y N -0.218914427 34.39833304 1.40E-10 92.7 DM {Uric acid concentration, serum, QTL 2}, 612076 (3); Hypouricemia, renal, 2, 612076 (3) SLC30A1 1 211571568 211578742 Y . Y N -0.995880925 7.918041327 0.913544367 17.1 . . SLC30A4 15 45479611 45522807 Y . Y N -0.344856099 27.00700353 0.950659467 14.7 . . SLC31A1 9 113221562 113264492 Y . Y N -0.094538075 42.4726515 0.519265078 29.5 DM . SLC32A1 20 38724462 38729372 Y . Y N -0.532433342 18.88638074 . . . . SLC34A1 5 177379235 177398848 Y . Y N -0.172789315 37.18816924 1.08E-15 97.3 DM Nephrolithiasis/osteoporosis, hypophosphatemic, 1, 612286 (3); Fanconi renotubular syndrome 2, 613388 (3) SLC34A2 4 25655301 25678748 Y . Y N -0.758187951 12.43850205 1.02E-05 78 DM Pulmonary alveolar microlithiasis, 265100 (3); ?Testicular microlithiasis, 610441 (3) SLC35A1 6 87470623 87512336 Y . Y N 0.067810037 54.72014817 0.208304141 38.5 DM Congenital disorder of glycosylation, type IIf, 603585 (3) SLC35C1 11 45804072 45813015 Y . Y N -0.206930636 35.10447416 0.147014852 40.7 DM Congenital disorder of glycosylation, type IIc, 266265 (3) SLC35D1 1 66999332 67054099 Y . Y N -0.367365256 26.00567228 0.001854201 62.2 DM Schneckenbecken dysplasia, 269250 (3) SLC37A4 11 119024114 119030906 Y . Y N . . 0.000674732 66.1 DM Glycogen storage disease Ib, 232220 (3); Glycogen storage disease Ic, 232240 (3) SLC39A4 8 144409742 144416895 Y . Y N 1.227759581 95.28853389 0.005737361 57.5 DM Acrodermatitis enteropathica, 201100 (3) SLC39A7 6 33200445 33204439 N Lethal Y N -0.291377772 29.93575273 0.014990754 53.2 . . SLC39A8 4 102251041 102431258 N Lethal Y N -0.340224471 27.22116108 0.891567479 18.1 . . SLC3A2 11 62856102 62888875 Y . Y N 0.660855672 85.94663425 0.923234161 16.5 . . SLC40A1 2 189560579 189583758 Y Lethal Y N 0.157040256 61.54424958 0.977595135 12.1 DM Hemochromatosis, type 4, 606069 (3) SLC4A1 17 44248385 44268141 Y . Y N 0.489547433 80.07755976 0.909484295 17.3 DM Ovalocytosis (3); Spherocytosis, type 4, 612653 (3); [Malaria, resistance to], 611162 (3); Renal tubular acidosis, distal, AD, 179800 (3); Renal tubular acidosis, distal, AR, 611590 (3); [Blood group, Diego], 110500 (3); [Blood group, Waldner], 112010 (3); [Blood group, Wright], 112050 (3); [Blood group, Froese], 601551 (3); [Blood group, Swann], 601550 (3) SLC4A2 7 151057210 151076527 Y . Y N -1.471897879 3.495977311 0.999960116 3.1 . . SLC4A4 4 71187286 71572087 Y . Y N -0.79666137 11.65132836 0.999995795 2.2 DM Renal tubular acidosis, proximal, with ocular abnormalities, 604278 (3) SLC4A7 3 27372721 27484420 Y . Y N -1.138012686 6.170052671 0.697707973 24.7 . . SLC52A2 8 144354135 144361272 N Lethal Y N -0.46379592 21.73409735 0.011960005 54.2 DM Brown-Vialetto-Van Laere syndrome 2, 614707 (3) SLC52A3 20 760080 776015 Y . Y N -0.402009394 24.309776 0.001625094 62.8 DM Brown-Vialetto-Van Laere syndrome 1, 211530 (3); Fazio-Londe disease, 211500 (3) SLC5A1 22 32043032 32113029 Y . Y N -0.72081858 13.38195289 0.008031196 55.9 DM Glucose/galactose malabsorption, 606824 (3) SLC5A3 21 34073570 34106260 Y . Y N -0.752745356 12.53111073 0.84946475 19.9 . . SLC5A6 2 27199587 27212958 Y . Y N -0.544417257 18.40597326 0.571968338 28.2 . . SLC5A7 2 107986523 108013994 Y . Y N -0.045540401 46.17121028 0.101652706 43 DM Neuronopathy, distal hereditary motor, type VIIA, 158580 (3) SLC6A11 3 10816200 10940733 Y . Y N -0.601723109 16.6579846 0.36494333 33.8 DP . SLC6A4 17 30194319 30236002 Y . Y N -0.821232546 11.15355675 0.854880095 19.7 DFP {Anxiety-related personality traits}, 607834 (3); {Obsessive-compulsive disorder}, 164230 (3) SLC6A5 11 20599400 20659285 Y Lethal Y N 0.486674995 79.95022284 1.85E-12 95 DM Hyperekplexia 3, 614618 (3) SLC6A9 1 43991500 44031467 Y . Y N -1.065025053 7.003530706 0.044253041 47.7 . . SLC7A1 13 29509410 29595688 Y . Y N -0.989180225 8.05116629 0.574964447 28.1 DFP . SLC7A10 19 33208664 33225850 Y . Y N 0.223761511 65.86212884 0.001577454 62.9 DM? . SLC7A5 16 87830023 87869488 Y . Y N -0.799679197 11.60502402 0.5084966 29.7 DM? . SLC7A7 14 22773222 22829820 Y . Y N -0.414144703 23.73097181 0.002091195 61.7 DM Lysinuric protein intolerance, 222700 (3) SLC8A1 2 40097270 40611053 Y . Y N -1.274180508 4.91983562 0.988208625 10.4 DP . SLC9A1 1 27098815 27166981 Y . Y N -0.939375127 8.867280199 0.95222813 14.5 . ?Lichtenstein-Knorr syndrome, 616291 (3) SLC9A3R1 17 74748652 74769353 Y . Y N 0.618556794 84.73114545 6.36E-05 73.2 DM Nephrolithiasis/osteoporosis, hypophosphatemic, 2, 612287 (3) SLCO2A1 3 133932696 134052184 Y . Y N 0.942461058 91.89674133 2.25E-09 90.4 DM Hypertrophic osteoarthropathy, primary, autosomal recessive 2, 614441 (3) SLIRP 14 77708071 77761104 Y . Y N 0.465476352 79.10516872 0.000361058 68.1 . . SLIT2 4 20253260 20620561 Y . Y N -1.545881002 3.108178503 0.999999067 1.7 . . SLX4 16 3581181 3611598 Y . Y N 1.741846071 98.02627771 8.90E-08 86.2 DM Fanconi anemia, complementation group P, 613951 (3) SMAD1 4 145481194 145558079 Y . Y N -0.5962877 16.80268565 0.870045546 19 DM Charcot-Marie-Tooth disease, type 2D, 601472 (3); Neuropathy, distal hereditary motor, type VA, 600794 (3) SMAD2 18 47808957 47931146 Y . Y N -0.621669727 16.13127279 0.988180754 10.4 DM . SMAD4 18 51028394 51085045 Y . Y N -0.179789518 36.75985414 0.967432536 13.3 DM Pancreatic cancer, somatic, 260350 (3); Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050 (3); Myhre syndrome, 139210 (3); Polyposis, juvenile intestinal, 174900 (3) SMAD5 5 136132845 136188747 Y . Y N . . 0.986055593 10.8 . . SMAD6 15 66702228 66782848 Y . Y N . . 6.97E-06 78.9 DM Aortic valve disease 2, 614823 (3) SMAD7 18 48919853 48950711 Y . Y N -0.36273366 26.21404179 0.975695731 12.3 DFP {Colorectal cancer, susceptibility to, 3}, 612229 (3) SMARCA4 19 10961001 11065395 Y . Y N -3.299307148 0.451467269 0.999999998 0.7 DM {Rhabdoid tumor predisposition syndrome 2}, 613325 (3); Mental retardation, autosomal dominant 16, 614609 (3) SMARCA5 4 143513463 143557486 Y . Y N -1.365484334 4.178966256 0.999999855 1.2 . . SMARCAD1 4 94207611 94291292 Y . Y N -1.082901473 6.74306882 0.999996803 2.1 DP Adermatoglyphia, 136000 (3) SMARCB1 22 23786963 23834516 Y . Y N -0.372151226 25.76836256 0.996807634 7.6 DM Rhabdoid tumors, somatic, 609322 (3); {Rhabdoid predisposition syndrome 1}, 609322 (3); Mental retardation, autosomal dominant 15, 614608 (3); {Schwannomatosis-1, susceptibility to}, 162091 (3) SMARCC1 3 47585272 47782106 Y . Y N -0.726262117 13.2314638 0.999999593 1.4 DM? . SMARCC2 12 56162983 56189567 Y . Y N -1.358501274 4.225270591 0.999999989 0.8 DM? . SMARCD2 17 63832081 63843065 N Subviable Y N -0.656313373 15.18203392 0.980738447 11.6 . . SMARCE1 17 40624962 40648508 Y . Y N -0.544722892 18.39439718 0.998188065 6.8 DM {Meningioma, familial, susceptibility to}, 607174 (3) SMC3 10 110567691 110604636 Y . Y N -1.549263558 3.090814377 0.999999999 0.5 DM Cornelia de Lange syndrome 3, 610759 (3) SMC5 9 70258962 70354888 N Lethal Y N -0.895977359 9.666029982 0.980364885 11.7 . . SMCHD1 18 2655738 2805017 Y . Y N -1.274867899 4.902471494 0.999999999 0.6 DM Fascioscapulohumeral muscular dystrophy 2, digenic, 158901 (3) SMDT1 22 42079691 42084284 N Lethal Y N -0.110501175 41.41343983 0.163350133 40 . . SMG1 16 18804853 18926454 Y . Y N -3.703064791 0.335706431 1 0.2 FTV . SMG6 17 2059839 2303771 Y . Y N -0.189118229 36.20420212 0.999935136 3.4 . . SMN1 5 70925030 70953942 Y . Y N . . 0.100971869 43 DM Spinal muscular atrophy-1, 253300 (3); Spinal muscular atrophy-2, 253550 (3); Spinal muscular atrophy-3, 253400 (3); Spinal muscular atrophy-4, 271150 (3) SMO 7 129188872 129213545 Y Lethal Y N -0.174853152 37.09556057 0.063711815 45.6 . . SMOC1 14 69854131 70032366 Y Subviable Y N -0.295052873 29.7100191 0.006004031 57.2 DM Microphthalmia with limb anomalies, 206920 (3) SMPD3 16 68358325 68448688 Y . Y N -0.045237653 46.19436245 0.65919615 25.8 . . SMPD4 2 130151392 130182750 N Subviable Y N -0.123944399 40.50471725 0.006058046 57.2 . . SMTN 22 31064105 31104757 Y . Y N 0.396794445 75.6497077 0.755974257 22.9 . . SMURF2 17 64542295 64662068 N Subviable Y N -0.628060421 15.93447937 0.999989891 2.5 . . SMYD1 2 88067780 88113387 Y . Y N 0.539042257 82.01076576 0.00024789 69.1 . . SNAI1 20 49982999 49988886 Y . Y N -0.387157394 25.09116166 0.367002591 33.7 . . SNAI2 8 48917690 48921740 Y Subviable Y N -0.207083847 35.09289807 0.871690015 19 DM Waardenburg syndrome, type 2D, 608890 (3); Piebaldism, 172800 (3) SNAP23 15 42491233 42545356 Y . Y N 0.200952107 64.44405857 0.826507889 20.8 . . SNAP25 20 10218830 10307418 Y . Y N -0.096452026 42.31637437 0.95980653 13.9 . ?Myasthenic syndrome, congenital, 18, 616330 (3) SNAP29 22 20858983 20891218 Y . Y N 0.570668188 83.09312959 0.151662054 40.5 DM Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, 609528 (3) SNAPC4 9 136375577 136398797 Y . Y N 2.252482932 98.93500029 2.01E-21 99 DP . SNAPIN 1 153658654 153661830 Y Lethal Y N -0.178028729 36.84667477 3.05E-05 75.2 . . SNF8 17 48929316 48945117 Y . Y N -0.446224844 22.44602651 0.290873868 35.9 . . SNIP1 1 37534449 37554302 Y . Y N 0.489089088 80.05440759 0.905058049 17.6 DM? Psychomotor retardation, epilepsy, and craniofacial dysmorphism, 614501 (3) SNPH 20 1266316 1309328 N Subviable Y N 0.12989848 59.41425016 0.796091126 21.8 . . SNRNP200 2 96274336 96305515 Y Lethal Y N -3.126481328 0.549863981 1 0.3 DM Retinitis pigmentosa 33, 610359 (3) SNRNP27 2 69893560 69905575 N Lethal Y N -0.021421177 47.83816635 0.024069445 50.7 . . SNRPN 15 24823647 24978723 Y . Y N -0.375023253 25.68154193 0.848259451 20 DM Prader-Willi syndrome, 176270 (3) SNX13 7 17790761 17940501 Y . Y N -0.911274155 9.376627887 0.985321608 10.9 . . SNX22 15 64151715 64157481 N Subviable Y N 0.034927599 52.21971407 0.007922548 56 . . SNX27 1 151612065 151699091 Y Subviable Y N -0.466819625 21.58360827 0.999884819 3.9 . . SNX5 20 17941597 17968980 Y . Y N -0.418929621 23.54575447 0.44984557 31.4 DM? . SOCS1 16 11254405 11256179 Y Lethal Y N . . 0.541775585 28.9 DFP . SOCS3 17 78356778 78360077 Y . Y N -0.08048891 43.56080338 0.576558159 28.1 DM . SOCS7 17 38352228 38405593 Y . Y N -0.749225164 12.64108352 0.998970598 5.9 . . SOD2 6 159669057 159762529 Y . Y N -0.093581117 42.57683626 0.237154646 37.5 DFP {Microvascular complications of diabetes 6}, 612634 (3) SORT1 1 109309568 109397951 N Subviable Y N 0.082161626 55.87775655 0.99992656 3.5 DFP [Low density lipoprotein cholesterol level QTL6], 613589 (3) SOS1 2 38981396 39124345 Y . Y N -1.678475031 2.523586271 0.999999895 1.1 DM ?Fibromatosis, gingival, 1, 135300 (3); Noonan syndrome 4, 610733 (3) SOSTDC1 7 16461481 16530580 Y Subviable Y N 0.05935026 54.0603114 0.303977581 35.6 FTV . SOX10 22 37970686 37987422 Y . Y N -0.442395976 22.60809168 0.913097851 17.1 DM Waardenburg syndrome, type 4C, 613266 (3); Waardenburg syndrome, type 2E, with or without neurologic involvement, 611584 (3); PCWH syndrome, 609136 (3) SOX11 2 5692667 5701385 Y . Y N . . 0.343767037 34.4 . Mental retardation, autosomal dominant, 27, 615866 (3) SOX17 8 54457935 54460888 Y . Y N . . 0.866918773 19.2 DM Vesicoureteral reflux 3, 613674 (3) SOX2 3 181711924 181714436 Y . Y N 0.08936246 56.39289228 0.396696528 32.8 DM Microphthalmia, syndromic 3, 206900 (3); Optic nerve hypoplasia and abnormalities of the central nervous system, 206900 (3) SOX3 X 140502987 140505503 Y . Y N . . . . DM Mental retardation, X-linked, with isolated growth hormone deficiency, 300123 (3); Panhypopituitarism, X-linked, 312000 (3) SOX4 6 21592769 21598619 Y . Y N -0.150734446 38.66411993 0.384005969 33.2 DM? . SOX5 12 23529500 23951032 Y . Y N -1.647780828 2.691439486 0.999398884 5.4 DM . SOX6 11 15966449 16739591 Y . Y N -1.680522614 2.500434103 0.99953096 5.1 DM? . SOX7 8 10723768 10730512 Y . Y N -0.267759536 31.40012734 0.131241611 41.5 DM? . SOX9 17 72121020 72126420 Y . Y N -0.917015999 9.266655091 0.983539903 11.2 DM Campomelic dysplasia with autosomal sex reversal, 114290 (3); Acampomelic campomelic dysplasia, 114290 (3); Campomelic dysplasia, 114290 (3) SP1 12 53380176 53416446 Y . Y N -1.111004137 6.436302599 0.997637149 7.2 . . SP2 17 47896150 47928957 Y . Y N -0.989180225 8.05116629 0.969394325 13.1 . . SP3 2 173906459 173965702 Y . Y N -0.592306384 16.9473867 0.992297744 9.3 . . SP4 7 21428034 21514822 Y . Y N -0.582889864 17.31203334 0.951288043 14.6 . . SP7 12 53326575 53345315 Y . Y N -0.114980914 41.14140186 0.663143307 25.7 DM ?Osteogenesis imperfecta, type XII, 613849 (3) SP8 7 20782283 20786886 Y . Y N . . . . DM? . SPATA5 4 122923074 123319450 N Lethal Y N -1.174715944 5.851710366 4.65E-10 91.8 . Epilepsy, hearing loss, and mental retardation syndrome, 616577 (3) SPDEF 6 34537802 34556333 Y . Y N 0.885001253 90.82016554 0.711825442 24.3 . . SPEF1 20 3777504 3781448 N Subviable Y N 0.26384649 68.31047057 0.000189255 70 . . SPEF2 5 35617844 35814611 Y . Y N 1.354512512 96.13937605 2.03E-16 97.6 . . SPEG 2 219434846 219498287 Y Lethal Y N -0.914706269 9.307171384 0.999790422 4.3 . Centronuclear myopathy 5, 615959 (3) SPEN 1 15847864 15940460 Y . Y N -2.636434944 0.845054118 1 0.2 . Megakaryoblastic leukemia, acute (2) SPI1 11 47354860 47378576 Y . Y N -0.246513473 32.65613243 0.897230517 17.9 DM . SPIC 12 101475421 101486997 Y . Y N 0.537786438 81.96446142 0.118412348 42.2 . . SPIN1 9 88388419 88478694 Y . Y N -0.15743371 38.19528853 0.925083439 16.4 . . SPINK1 5 147824568 147831786 Y . Y N 0.49453353 80.25698906 0.293111299 35.9 DM Pancreatitis, hereditary, 167800 (3); {Fibrocalculous pancreatic diabetes, susceptibility to}, 608189 (3); Tropical calcific pancreatitis, 608189 (3) SPINK5 5 148025683 148137289 Y . Y N 0.133226762 59.65155988 2.12E-17 98 DM Netherton syndrome, 256500 (3); Atopy, 147050 (3) SPINT1 15 40844018 40858207 Y . Y N 0.3955263 75.61497945 0.00152363 63 . . SPINT2 19 38244035 38292614 Y . Y N 0.325784353 72.08427389 0.029618615 49.7 DM Diarrhea 3, secretory sodium, congenital, syndromic, 270420 (3) SPNS1 16 28974221 28984548 Y . Y N -0.59517675 16.86635411 0.258446825 36.8 . . SPOP 17 49598884 49678234 Y Lethal Y N -0.337507753 27.3890143 0.992531223 9.3 . . SPR 2 72887360 72892158 Y . Y N -0.094538075 42.4726515 0.000439257 67.4 DM Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716 (3) SPRY1 4 123396795 123403760 Y . Y N -0.381414283 25.35741159 4.13E-05 74.4 . . SPRY2 13 80335976 80340951 Y . Y N -0.324261194 28.05463912 0.930516838 16.1 DM? . SPRY4 5 142310427 142326455 Y . Y N -0.077465999 43.85599352 0.109919686 42.6 DM? Hypogonadotropic hypogonadism 17 with or without anosmia, 615266 (3) SPTA1 1 158610706 158686698 Y . Y N 3.158180937 99.58904902 5.85E-05 73.5 DM Elliptocytosis-2, 130600 (3); Pyropoikilocytosis, 266140 (3); Spherocytosis, type 3, 270970 (3) SPTAN1 9 128552558 128633662 Y . Y N -3.690784008 0.347282514 1 0.2 DM Epileptic encephalopathy, early infantile, 5, 613477 (3) SPTB 14 64746283 64879883 Y . Y N -0.616245523 16.29333796 0.999999748 1.3 DM Elliptocytosis-3 (3); Spherocytosis, type 2 (3); Anemia, neonatal hemolytic, fatal and near-fatal (3) SPTBN1 2 54456285 54671445 Y . Y N -4.740507312 0.109972796 1 0.4 . . SPTLC1 9 92031999 92115384 Y . Y N -0.484543364 20.78485848 2.78E-07 84.7 DM Neuropathy, hereditary sensory and autonomic, type IA, 162400 (3) SPTLC2 14 77505997 77616773 Y . Y N -0.52397308 19.2683915 0.820593935 21 DM Neuropathy, hereditary sensory and autonomic, type IC, 613640 (3) SPTSSA 14 34432789 34462356 N Lethal Y N 0.099585278 57.16270186 0.57131762 28.2 . . SQLE 8 124998497 125022283 Y . Y N -0.311015862 28.89390519 0.91297068 17.1 . . SRC 20 37344685 37406050 Y . Y N -0.883328302 9.9033397 0.988983228 10.2 . Colon cancer, advanced, somatic (3) SRD5A3 4 55346109 55373096 Y Lethal Y N -0.029729296 47.29987845 0.040727036 48.2 DM Congenital disorder of glycosylation, type Iq, 612379 (3); Kahrizi syndrome, 612713 (3) SREBF1 17 17810399 17837002 Y . Y N -0.047000176 46.0496614 0.985657782 10.8 DM . SREBF2 22 41833079 41907308 Y . Y N -0.725164521 13.25461596 0.996271601 7.8 DM? . SRF 6 43171299 43181507 Y . Y N -0.521256062 19.41309255 0.970031288 13 . . SRGAP2 1 206203345 206464443 Y . Y N . . . . DM . SRP9 1 225777813 225790466 N Lethal Y N 0.08362237 55.98772935 0.308171839 35.5 . . SRRT 7 100875111 100888664 Y . Y N -1.045237847 7.269780633 0.98296789 11.3 . . SRSF1 17 58003360 58007346 Y . Y N -0.058936621 45.1930312 0.991994023 9.4 . . SRSF10 1 23964804 23980927 Y . Y N . . . . . . SRSF2 17 76734115 76737374 Y . Y N -0.374065873 25.71627019 0.352601172 34.1 . . SRSF3 6 36594353 36605600 Y . Y N -0.037384251 46.76159055 0.97617521 12.2 . . SRSF7 2 38743599 38751494 Y . Y N -0.163022609 37.81906581 0.997841973 7.1 . . SS18 18 26016253 26091217 Y . Y N -0.512795604 19.70249465 0.994140959 8.8 . Sarcoma, synovial (1) SSB 2 169791933 169812064 Y . Y N -0.044735327 46.24066678 0.525946313 29.3 . . SSBP1 7 141738321 141787922 Y . Y N 0.260020778 68.03264456 0.058441518 46.2 . . SSBP3 1 54225432 54413479 Y . Y N -0.227678773 33.88319731 0.999756196 4.4 . . SSR1 6 7268306 7347446 Y . Y N -0.076661182 43.91387394 0.032289601 49.3 . . SSR3 3 156540140 156555184 Y . Y N -0.215544031 34.54882213 0.301905502 35.7 . . SSRP1 11 57325985 57335877 Y . Y N -0.401052411 24.3502923 0.999693192 4.7 . . ST14 11 130159562 130210376 Y . Y N 0.53265131 81.74451583 0.852676553 19.8 DM Ichthyosis, congenital, autosomal recessive 11, 602400 (3) STAC3 12 57243453 57251193 Y . Y N -0.056870751 45.35509637 0.004878302 58.2 DM Native American myopathy, 255995 (3) STAG1 3 136336233 136752403 Y . Y N -1.573543478 2.940325288 0.99999991 1.1 DM? . STAMBP 2 73828916 73873659 Y . Y N 0.051041541 53.45835504 0.001430273 63.2 DM Microcephaly-capillary malformation syndrome, 614261 (3) STAR 8 38143649 38151265 Y . Y N 0.253623009 67.679574 3.07E-07 84.5 DM STAR syndrome, 300707 (3) STAT1 2 190964358 191020960 Y . Y N -0.745395207 12.75684436 0.999994277 2.3 DM Immunodeficiency 31A, mycobacteriosis, autosomal dominant, 614892 (3); Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive, 613796 (3); Immunodeficiency 31C, autosomal dominant, 614162 (3) STAT3 17 42313324 42388568 Y . Y N -0.55398566 18.10499508 0.999989193 2.6 DM Hyper-IgE recurrent infection syndrome, 147060 (3); Autoimmune disease, multisystem, infantile-onset, 615952 (3) STIL 1 47250139 47314147 Y . Y N -0.261722107 31.7126816 0.20268784 38.7 DM Microcephaly 7, primary, autosomal recessive, 612703 (3) STIM1 11 3854527 4093210 Y . Y N -1.289333518 4.757770446 0.926766743 16.3 DM Immunodeficiency 10, 612783 (3); Myopathy, tubular aggregate, 1 160565 (3); Stormorken syndrome, 185070 (3) STIP1 11 64185272 64204543 Y . Y N -0.878541444 9.972796203 0.999887764 3.8 . . STK11 19 1177558 1228435 Y . Y N -0.207887594 35.06395786 0.978282902 12 DM Peutz-Jeghers syndrome, 175200 (3); Melanoma, malignant, somatic (3); Pancreatic cancer, 260350 (3); Testicular tumor, somatic, 273300 (3) STK36 2 218672026 218702716 Y . Y N 0.92236156 91.54367078 3.75E-07 84.2 . . STK40 1 36339624 36385896 Y . Y N -0.961079954 8.531573769 0.991723985 9.5 . . STRA6 15 74179466 74212267 N . Y N 0.240833594 66.92134051 3.25E-08 87.5 DM Microphthalmia, syndromic 9, 601186 (3); Microphthalmia, isolated, with coloboma 8, 601186 (3) STRAP 12 15882391 15903478 Y . Y N -0.304623579 29.21803554 0.701829616 24.6 . . STRBP 9 123109500 123268576 Y . Y N -0.752898517 12.51953464 0.999902421 3.8 . . STRN3 14 30893799 31026401 N Lethal Y N -1.364375071 4.207906465 0.447040096 31.5 . . STUB1 16 680224 682870 Y . Y N -0.2707828 31.23227412 0.042533886 47.9 . Spinocerebellar ataxia, autosomal recessive 16, 615768 (3) STX1A 7 73699206 73719672 Y . Y N -0.288660263 30.16727441 0.910475757 17.3 DFP . STX1B 16 30989256 31010628 Y . Y N -0.298077744 29.55953001 0.944474733 15.2 . Generalized epilepsy with febrile seizures plus, type 9, 616172 (3) STX3 11 59713456 59805882 N Lethal Y N 0.329610306 72.28106731 0.630609378 26.6 . . STX4 16 31032889 31042975 Y . Y N -0.112262427 41.3266192 9.66E-05 72 . . STXBP1 9 127611760 127692936 Y . Y N -0.709793585 13.64241477 0.999882943 3.9 DM Epileptic encephalopathy, early infantile, 4, 612164 (3) STXBP2 19 7636881 7647873 Y . Y N -0.293944711 29.77368756 7.76E-05 72.7 DM Hemophagocytic lymphohistiocytosis, familial, 5, 613101 (3) STXBP3 1 108746674 108809526 Y . Y N -0.356991058 26.48029172 7.40E-06 78.8 DM? . STXBP5 6 147204425 147390476 Y . Y N -1.591279908 2.865080743 0.9999916 2.5 DM? . SUCLA2 13 47936487 48001326 Y . Y N 0.082010267 55.87196851 0.030668159 49.5 DM Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), 612073 (3) SUCO 1 172532349 172611833 Y . Y N -0.916578082 9.278231174 0.302497744 35.7 . . SUDS3 12 118376380 118418031 Y . Y N -0.411581382 23.84673265 0.007596107 56.2 . . SUFU 10 102503987 102633535 Y Lethal Y N -0.623428585 16.06181629 0.999161485 5.7 DM Medulloblastoma, desmoplastic, 155255 (3); {Meningioma, familial, susceptibility to}, 607174 (3); Basal cell nevus syndrome, 109400 (3) SULF2 20 47656348 47786616 Y . Y N -0.708387513 13.68293106 0.878046241 18.7 . . SUMF1 3 3700814 4467281 Y . Y N -0.463948146 21.72830931 0.042577722 47.9 DM Multiple sulfatase deficiency, 272200 (3) SUMO1 2 202206180 202238608 Y . Y N 0.075162561 55.29316432 0.800374019 21.7 DM Orofacial cleft 10, 613705 (3) SUPT20H 13 37009312 37059713 Y . Y N -0.772385473 12.13173583 0.001381988 63.4 . . SUPT3H 6 44809317 45377953 Y . Y N -0.009939149 48.69479655 0.000109913 71.5 . . SUPT4H1 17 58345175 58353093 N Lethal Y N -0.006414986 48.96104648 0.33844726 34.6 . . SUPT7L 2 27650812 27663840 Y . Y N -0.170372579 37.39075071 0.833193339 20.5 . . SUPV3L1 10 69180232 69209099 Y . Y N -0.72449582 13.27776813 0.033820997 49.1 . . SURF1 9 133351755 133356676 Y . Y N -0.009939149 48.69479655 1.02E-13 96.1 DM Leigh syndrome, due to COX deficiency, 256000 (3) SUV420H1 11 68154863 68213828 Y . Y N -0.818362499 11.21722521 0.99993019 3.5 DM . SUZ12 17 31937018 32001045 Y . Y N -0.626300493 15.98657174 0.999270636 5.6 . . SV2A 1 149903318 149917882 Y . Y N -1.172947717 5.874862534 0.578982695 28 . . SVEP1 9 110365251 110579880 N Lethal Y N 1.155165185 94.55345257 0.58900765 27.7 . . SYF2 1 25222679 25232502 Y . Y N 0.136294125 59.95253806 0.037927097 48.6 . . SYK 9 90801787 90898549 Y . Y N -0.4732126 21.32314638 0.998540059 6.5 . . SYMPK 19 45815410 45863290 Y . Y N -1.718736345 2.384673265 0.997278492 7.4 . . SYNE1 6 152121684 152637801 Y . Y N -1.316384691 4.601493315 3.75E-27 99.5 DM Spinocerebellar ataxia, autosomal recessive 8, 610743 (3); Emery-Dreifuss muscular dystrophy 4, autosomal dominant, 612998 (3) SYNGAP1 6 33420070 33457541 Y . Y N -1.964767732 1.742200614 0.99999845 1.8 DM Mental retardation, autosomal dominant 5, 612621 (3) SYNJ1 21 32628759 32728048 Y Lethal Y N -0.779463633 12.02176304 0.214295146 38.3 . Parkinson disease 20, early-onset, 615530 (3) SYNPO2 4 118850688 119061247 N Lethal Y N -1.080580587 6.795161197 0.737066032 23.5 . . SYT1 12 78863993 79452008 Y . Y N -0.529716584 19.0195057 0.837180355 20.4 . . SYT2 1 202590596 202710417 Y . Y N -0.595330347 16.85477803 0.887810989 18.3 DM Myasthenic syndrome, congenital, 7, presynaptic, 616040 (3) SYT5 19 55171199 55180441 Y . Y N 0.344616494 73.13190948 0.00220634 61.5 . . SYVN1 11 65121780 65134533 Y . Y N -0.367212606 26.01724836 0.996650378 7.7 . . SZT2 1 43389882 43452650 Y . Y N -4.156536448 0.179429299 1.52E-07 85.6 . Epileptic encephalopathy, early infantile, 18, 615476 (3) T 6 166157656 166168700 Y . Y N -0.015528497 48.24911732 0.00020819 69.7 DM {Neural tube defects, susceptibility to}, 182940 (3); Sacral agenesis with vertebral anomalies, 615709 (3) TAB1 22 39399741 39437060 Y . Y N -0.820275787 11.17092088 0.003995811 59.1 . . TAB2 6 149218641 149411613 Y . Y N -1.117699885 6.384210222 0.999757962 4.4 DM Congenital heart defects, nonsyndromic, 2, 614980 (3) TACC3 4 1721490 1745176 Y . Y N -0.425027485 23.33738496 0.091951814 43.6 . . TADA3 3 9779860 9793011 Y . Y N -0.84389619 10.70208948 0.004747355 58.3 . . TAF10 11 6606296 6612667 Y . Y N -0.26151962 31.75319789 0.776130899 22.4 . . TAF4 20 61953469 62065810 Y . Y N -1.32126329 4.55518898 0.999487086 5.2 . . TAF6 7 100107070 100119841 Y . Y N -1.102544157 6.517335186 0.000674165 66.1 . . TAF7 5 141260225 141320821 Y . Y N 0.021835061 51.22417086 0.736629404 23.6 . . TAF8 6 42050513 42087461 Y . Y N -0.268868697 31.33645888 3.04E-09 90.1 . . TAL1 1 47216290 47232220 Y . Y N 0.17380942 62.79446663 0.824692215 20.8 DM Leukemia, T-cell acute lymphocytic, somatic, 613065 (3) TAL2 9 105662457 105663112 Y . Y N 0.570522981 83.06997743 0.48853507 30.3 . Leukemia, T-cell acute lymphocytic, somatic, 613065 (3) TANC2 17 63009556 63427699 Y . Y N -3.89839298 0.237309718 0.999999966 0.9 DM? . TANGO6 16 68843604 69085180 N Lethal Y N -0.51602315 19.58673381 9.71E-09 88.9 . . TAPT1 4 16160505 16227410 Y . Y N -0.197666633 35.6485501 0.563962465 28.4 . . TARBP2 12 53500921 53506431 Y . Y N -0.438721742 22.81646119 0.446803724 31.5 . . TARDBP 1 11012344 11026420 Y . Y N -0.335593115 27.47004688 0.980707837 11.6 DM Amyotrophic lateral sclerosis 10, with or without FTD, 612069 (3); Frontotemporal lobar degeneration, TARDBP-related, 612069 (3) TASP1 20 13389392 13638940 Y . Y N 0.010656209 50.33281241 0.956178727 14.3 . . TAX1BP1 7 27739331 27844564 Y . Y N 0.153515835 61.27221161 2.99E-06 80.6 . . TBC1D14 4 6909242 7033118 Y . Y N -0.389571521 24.98118886 0.909001498 17.4 . . TBK1 12 64451880 64502108 Y . Y N -0.549200816 18.232332 0.995096971 8.4 DM Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, 616439 (3) TBP 6 170554302 170572870 Y . Y N -0.242684848 32.87607802 0.490805122 30.2 DM Spinocerebellar ataxia 17, 607136 (3); {Parkinson disease, susceptibility to}, 168600 (3) TBR1 2 161416094 161425870 Y . Y N -0.799833369 11.59923598 0.993588037 9 DM . TBX1 22 19756703 19783593 Y . Y N -0.674993982 14.6263819 0.983396788 11.2 DM Conotruncal anomaly face syndrome, 217095 (3); DiGeorge syndrome, 188400 (3); Velocardiofacial syndrome, 192430 (3); Tetralogy of Fallot, 187500 (3) TBX15 1 118883046 118989556 Y . Y N 0.067004291 54.66226775 0.877333976 18.7 DM Cousin syndrome, 260660 (3) TBX18 6 84687351 84764519 Y . Y N 0.083923805 56.03403369 0.997468364 7.3 DM? Congenital anomalies of kidney and urinary tract 2, 143100 (3) TBX2 17 61399896 61409466 Y . Y N -0.109391694 41.51183655 0.964019297 13.6 DM . TBX20 7 35202430 35254147 Y . Y N -0.412383648 23.80042832 0.337045818 34.7 DM Atrial septal defect 4, 611363 (3) TBX22 X 80014756 80031769 Y . Y N -0.397377504 24.54708572 0.97475207 12.4 DM Cleft palate with ankyloglossia, 303400 (3); ?Abruzzo-Erickson syndrome, 302905 (3) TBX3 12 114670254 114684164 Y . Y N -0.502420818 20.06714129 0.948925457 14.8 DM Ulnar-mammary syndrome, 181450 (3) TBX4 17 61452404 61485110 Y Lethal Y N -0.240617998 33.02077907 0.407057023 32.6 DM Small patella syndrome, 147891 (3) TBX5 12 114353931 114408442 Y . Y N -0.057675878 45.29142791 0.991878564 9.5 DM Holt-Oram syndrome, 142900 (3) TBX6 16 30085793 30091887 Y . Y N -0.022074656 47.79186201 0.029147489 49.8 DM Spondylocostal dysostosis 5, 122600 (3) TCEA1 8 53966552 54022529 Y . Y N 0.339834225 72.85987151 0.342254929 34.5 . . TCEB3 1 23743155 23762059 Y . Y N 0.196620018 64.18938473 0.999991942 2.4 . . TCF12 15 56918623 57299281 Y . Y N -0.968433098 8.410024889 0.973899934 12.5 DM Craniosynostosis 3, 615314 (3) TCF15 20 603797 610398 Y . Y N . . 0.551527505 28.6 . . TCF21 6 133889138 133895553 Y . Y N 0.026467762 51.52514904 0.805369944 21.4 DM? . TCF3 19 1609290 1652605 Y . Y N 0.438784354 77.82022342 0.185647144 39.1 DM? Leukemia, acute lymphoblastic (1) TCF4 18 55222331 55664787 Y . Y N -0.705964203 13.78132778 0.999866544 4 DM Pitt-Hopkins syndrome, 610954 (3); Corneal dystrophy, Fuchs endothelial, 3, 613267 (3) TCF7L1 2 85133410 85310388 Y . Y N -0.117699662 4.09E+01 0.75375201 23 DM . TCF7L2 10 112950250 113167678 Y . Y N -0.765838674 12.29380101 0.989605029 10 DM {Diabetes mellitus, type 2, susceptibility to}, 125853 (3) TCIRG1 11 68039016 68050895 Y . Y N 0.294311835 70.15685594 6.04E-06 79.2 DM Osteopetrosis, autosomal recessive 1, 259700 (3) TCOF1 5 150357639 150400308 Y . Y N 1.179593173 94.83706662 0.765232863 22.7 DM Treacher Collins syndrome 1, 154500 (3) TCTN1 12 110614027 110649430 Y . Y N 0.147774792 60.86126064 1.87E-09 90.6 DM . TDG 12 103965804 103988874 Y . Y N 0.302467839 70.66620362 0.000922352 65 . . TDGF1 3 46574555 46626543 Y . Y N 0.136294125 59.95253806 3.98E-06 80 DM Forebrain defects (3) TEAD1 11 12674591 12944483 Y Lethal Y N -0.716339415 13.49192568 . . DM Sveinsson choreoretinal atrophy, 108985 (3) TEAD2 19 49340595 49362457 Y . Y N -0.385089341 25.1664062 0.002047317 61.8 . . TEAD4 12 2959330 3040673 Y . Y N 0.038905938 52.49175204 . . . . TEK 9 27109141 27230175 Y . Y N -0.931585708 9.029345372 0.999992784 2.4 DM Venous malformations, multiple cutaneous and mucosal, 600195 (3) TELO2 16 1493344 1510457 Y . Y N 1.217713539 95.21907739 4.84E-07 83.8 FTV . TENM4 11 78652831 79440948 Y . Y N 0.212721083 65.22544423 0.999718776 4.6 . . TERF1 8 73008864 73048122 Y . Y N 0.157996972 61.60213 0.87803358 18.7 . . TERF2 16 69355561 69408571 Y . Y N . . 0.927472177 16.3 . . TERF2IP 16 75647786 75761872 Y . Y N -0.271739892 31.18018174 0.022797301 51 . . TET1 10 68560656 68694482 Y . Y N -0.624221464 16.03287608 0.999563278 5 DM? . TET2 4 105145875 105279816 Y . Y N -1.164210516 5.955895121 7.05E-26 99.4 DM? Myelodysplastic syndrome, somatic, 614286 (3) TEX19 17 82359247 82363776 N . Y N 0.352927885 73.57180066 0.00018445 70.1 . . TF 3 133745956 133779006 Y . Y N -0.05002151 45.76604735 0.002372266 61.3 DM Atransferrinemia, 209300 (3) TFAM 10 58385022 58399221 Y . Y N 0.04243066 52.74063784 0.775627181 22.4 DM? . TFAP2A 6 10393186 10419659 Y . Y N -0.025901946 47.53140013 0.987223276 10.5 DM Branchiooculofacial syndrome, 113620 (3) TFAP2B 6 50818723 50847613 Y . Y N -0.783869211 11.88285003 0.990904305 9.7 DM Char syndrome, 169100 (3) TFAP2C 20 56629302 56639283 Y . Y N -0.2707828 31.23227412 0.939950974 15.6 . . TFAP4 16 4257186 4273075 Y . Y N -0.323304064 28.0662152 0.978529176 12 . . TFB1M 6 155257509 155314493 Y . Y N 0.611053519 84.5169879 1.16E-05 77.7 DM? . TFCP2L1 2 121216587 121285207 Y . Y N -0.674036865 14.64953406 0.999192587 5.7 . . TFDP1 13 113584721 113641470 Y . Y N -1.062456005 7.032470915 0.96315312 13.7 . . TFEB 6 41683978 41736259 Y Lethal Y N -0.163826529 37.7901256 0.968857338 13.1 . . TFPI 2 187464230 187565760 Y . Y N 0.274219089 68.94136714 0.025322956 50.4 DP . TFRC 3 196027183 196082189 Y . Y N -0.185075564 36.45308792 0.780323177 22.3 DP . TGFB1 19 41301587 41353911 Y . Y N 0.076269801 55.37998495 0.354132528 34.1 DM Camurati-Engelmann disease, 131300 (3); {Cystic fibrosis lung disease, modifier of}, 219700 (3) TGFB2 1 218346235 218444619 Y . Y N -0.398334639 24.51814551 0.989115508 10.1 DM Loeys-Dietz syndrome 4, 614816 (3) TGFB3 14 75958099 75982991 Y . Y N -0.427389804 23.21583608 0.922717484 16.5 DM Arrhythmogenic right ventricular dysplasia 1, 107970 (3); Loeys-Dietz syndrome 5, 615582 (3) TGFBR1 9 99104038 99154192 Y . Y N -0.430261371 23.14059154 0.948697388 14.9 DM Loeys-Dietz syndrome 1, 609192 (3); {Multiple self-healing squamous epithelioma, susceptiblity to}, 132800 (3) TGFBR2 3 30606502 30694142 Y . Y N -0.157128223 38.22422874 0.035592701 48.9 DM Colorectal cancer, hereditary nonpolyposis, type 6, 614331 (3); Esophageal cancer, somatic, 133239 (3); Loeys-Dietz syndrome 2, 610168 (3) TGFBR3 1 91680343 91906335 Y . Y N 0.362796383 74.05220814 0.011054798 54.5 DM . TGIF1 18 3411608 3459978 Y . Y N 0.305337941 70.81090467 0.090759152 43.7 DM . TGIF2 20 36573488 36593950 N Lethal Y N -0.289617454 30.09202987 0.307264901 35.6 . . TGM1 14 24249114 24264432 Y . Y N 0.64248454 85.43728657 5.31E-07 83.6 DM Ichthyosis, congenital, autosomal recessive 1, 242300 (3) TGS1 8 55773142 55825448 Y . Y N 1.467095946 96.81078891 1.02E-07 86.1 . . TH 11 2163929 2171877 Y . Y N 0.362643275 74.0464201 0.004098744 59 DM Segawa syndrome, recessive, 605407 (3) THAP11 16 67842082 67844195 Y . Y N -0.484697758 20.7732824 0.465632986 31 . . THBD 20 23045633 23049741 Y . Y N 0.414057549 76.56421832 . . DM Thrombophilia due to thrombomodulin defect, 614486 (3); {Hemolytic uremic syndrome, atypical, susceptibility to, 6}, 612926 (3) THOC1 18 214520 268050 Y . Y N -0.465862421 21.6299126 0.871670075 19 . . THOC5 22 29505879 29555216 Y . Y N -0.554790415 18.07605487 0.000462815 67.3 . . THRA 17 40058290 40093867 Y Subviable Y N -0.730388607 13.14464317 0.16700677 39.9 DM Hypothyroidism, congenital, nongoitrous, 6, 614450 (3) TIA1 2 70209444 70248660 Y . Y N -0.104759418 41.81281472 0.832581092 20.5 DM Welander distal myopathy, 604454 (3) TIAL1 10 119571802 119597029 Y . Y N -0.367520149 25.97673207 0.998790732 6.1 . . TIE1 1 43300993 43323108 Y . Y N -1.206373782 5.504427852 8.71E-12 94.3 . . TIMELESS 12 56416373 56449403 Y . Y N -0.159250242 38.05637553 1.04E-25 99.4 . . TIMM22 17 997117 1003671 N Lethal Y N -0.099170261 42.1543092 0.003621007 59.5 . . TIMM23 10 45972449 46003734 Y . Y N . . 0.597093477 27.5 . . TIMM50 19 39480412 39493785 N Lethal Y N 0.428257224 77.31666377 0.442656937 31.6 . . TIMMDC1 3 119498532 119525090 Y . Y N 0.586631015 83.74139029 5.68E-07 83.5 . . TINF2 14 24239643 24242674 Y . Y N -0.137489868 39.60757076 0.158554363 40.2 DM Dyskeratosis congenita, autosomal dominant 3, 613990 (3); Revesz syndrome, 268130 (3) TIPARP 3 156673235 156706770 Y . Y N -0.498592618 20.25235863 0.99775209 7.1 . . TJP2 9 69121264 69255208 Y . Y N 0.052605923 53.53938763 6.24E-07 83.3 DM Hypercholanemia, familial, 607748 (3); Cholestasis, progressive familial intrahepatic 4, 615878 (3) TK1 17 78174075 78187233 Y . Y N 0.315412023 71.43022515 0.255670113 36.9 . . TK2 16 66508003 66552544 Y . Y N -0.000674037 49.38936158 0.003269753 60 DM Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560 (3) TKT 3 53224707 53256052 Y . Y N -0.035972328 46.87735139 0.060283495 46 DM? . TLE3 15 70047790 70098176 Y . Y N -1.562359248 2.992417665 0.999913537 3.7 . . TLL1 4 165873258 166103895 Y . Y N -0.57891777 17.38727788 0.327496391 34.9 DM Atrial septal defect 6, 613087 (3) TLN1 9 35696948 35732395 Y . Y N -3.691733396 0.341494472 1 0.3 . . TLX2 2 74513463 74517147 Y . Y N -0.041059779 46.53585692 0.140777838 41 . . TLX3 5 171309284 171312134 Y . Y N 0.027424541 51.61775771 0.302655051 35.7 . . TMED10 14 75131470 75176631 Y Lethal Y N -0.246513473 32.65613243 0.718151478 24.1 . . TMED2 12 123584531 123598577 Y . Y N -0.322501565 28.10673149 0.797679588 21.8 . . TMEFF2 2 191949043 192195709 Y . Y N -0.27924293 30.68241014 0.386319162 33.1 . . TMEM100 17 55719627 55732121 Y Lethal Y N 0.131510986 59.50685883 0.485334012 30.4 . . TMEM107 17 8173237 8176399 Y . Y N 0.010504826 50.32702437 0.02890558 49.9 . . TMEM132A 11 60924463 60937159 N Lethal Y N 0.225179156 65.94316143 2.89E-06 80.6 . . TMEM14C 6 10722915 10731129 Y . Y N 0.018007904 50.90004052 0.121418784 42 . . TMEM161B 5 88189633 88269476 Y . Y N -0.52397308 19.2683915 0.003685002 59.4 . . TMEM184B 22 38219291 38273034 N Subviable Y N -0.736934592 12.97100191 0.878340976 18.7 . . TMEM231 16 75536744 75556286 Y . Y N 0.20573487 64.71609654 7.38E-05 72.8 DM Joubert syndrome 20, 614970 (3); Meckel syndrome 11, 615397 (3) TMEM30A 6 75252924 75284968 Y . Y N -0.528759206 19.07738612 0.040683085 48.2 . . TMEM38B 9 105694544 105776612 Y . Y N 0.063177242 54.40180587 0.168799966 39.8 DM Osteogenesis imperfecta, type XIV, 615066 (3) TMEM63B 6 44126914 44155519 N Lethal Y N -1.211423811 5.463911559 0.999844992 4.1 . . TMEM67 8 93754844 93819234 Y . Y N -1.277863118 4.861955201 1.21E-17 98 DM Meckel syndrome 3, 607361 (3); Joubert syndrome 6, 610688 (3); {Bardet-Biedl syndrome 14, modifier of}, 209900 (3); COACH syndrome, 216360 (3); Nephronophthisis 11, 613550 (3) TMEM8C 9 133514586 133528612 Y . Y N 0.091275867 56.54338137 0.002169159 61.6 . . TMEM98 17 32927910 32945106 Y . Y N -0.145145404 39.04034265 0.02864654 49.9 . ?Nanophthalmos 4, 615972 (3) TMOD1 9 97501180 97601748 Y . Y N -0.594373051 16.88371824 0.856622012 19.6 . . TMOD3 15 51829628 51947295 Y . Y N -0.231353608 33.64009955 0.804645652 21.5 . . TMPRSS6 22 37065436 37109563 Y . Y N 0.263496747 68.24680211 3.34E-06 80.3 DM Iron-refractory iron deficiency anemia, 206200 (3) TMSB4X X 12975108 12977227 Y . Y N 0.142690981 60.37506512 0.485751297 30.4 . . TMTC3 12 88142296 88199887 Y . Y N -0.854923297 10.47635585 0.009052132 55.3 . . TNFAIP3 6 137867188 137883312 Y . Y N -0.541547724 18.5217341 0.999666685 4.8 DFP . TNFRSF11B 8 118923557 118952200 Y . Y N 0.163586571 62.05938531 0.27222944 36.4 DM . TNFRSF9 1 7915894 7943165 N Subviable Y N 0.478716768 79.67818487 0.253050501 37 . . TNIP1 5 151029945 151093577 Y . Y N 0.419949566 76.82468021 0.929689199 16.2 DP . TNKS2 10 91798312 91865276 Y . Y N -2.237851238 1.227064884 0.733760224 23.6 . . TNNI3 19 55151767 55157773 Y . Y N 0.13438084 59.79626092 0.171895313 39.7 DM Cardiomyopathy, hypertrophic, 7, 613690 (3); Cardiomyopathy, familial restrictive, 1, 115210 (3); ?Cardiomyopathy, dilated, 2A, 611880 (3); Cardiomyopathy, dilated, 1FF, 613286 (3) TNNT2 1 201359008 201377762 Y . Y N -0.234224724 33.42015396 0.01285284 53.9 DM Cardiomyopathy, hypertrophic, 2, 115195 (3); Cardiomyopathy, dilated, 1D, 601494 (3); Cardiomyopathy, familial restrictive, 3, 612422 (3); Left ventricular noncompaction 6, 601494 (3) TNNT3 11 1919562 1938706 Y . Y N -0.113219363 41.24558662 0.00472932 58.4 DM Arthyrgryposis, distal, type 2B, 601680 (3) TNPO3 7 128954180 129055173 Y . Y N -1.652415655 2.662499276 0.001389201 63.4 DM Muscular dystrophy, limb-girdle, type 1F, 608423 (3) TNRC6A 16 24729695 24827632 Y . Y N -1.173149307 5.869074492 0.999999928 1.1 . . TNS3 7 47275154 47582558 Y . Y N -0.572773164 17.56091914 0.999389291 5.4 DM . TOMM5 9 37582646 37592642 Y . Y N 0.274070774 68.90085084 0.58888159 27.8 . . TOP1 20 41028818 41124487 Y . Y N -0.761359217 12.36904555 0.9999994 1.5 DM? DNA topoisomerase I, camptothecin-resistant (3) TOP2B 3 25597905 25664907 Y . Y N -0.965564342 8.450541182 0.997311093 7.3 . . TOP3A 17 18271428 18315007 Y . Y N -0.642625458 15.59877294 2.64E-08 87.8 . . TOPBP1 3 133598175 133661893 Y . Y N 1.052629845 93.39584419 0.999999934 1.1 DP . TOR1A 9 129812944 129824134 Y . Y N -0.051281473 45.6908028 0.167048491 39.9 DM Dystonia-1, torsion, 128100 (3); Dystonia, early-onset atypical, with myoclonic features (3); {Dystonia-1, modifier of} (3) TOR1AIP1 1 179882042 179925000 Y . Y N -0.485348588 20.73855415 0.064614782 45.6 . . TOX3 16 52438005 52547802 N Subviable Y N -0.136532991 39.65966314 0.994339108 8.7 DP . TP53 17 7661779 7687550 Y . Y N -0.10747793 41.66232564 0.912222953 17.2 DM Colorectal cancer, 114500 (3); Li-Fraumeni syndrome, 151623 (3); Hepatocellular carcinoma, 114550 (3); Osteosarcoma, 259500 (3); Choroid plexus papilloma, 260500 (3); Nasopharyngeal carcinoma, 607107 (3); Pancreatic cancer, 260350 (3); Adrenal cortical carcinoma, 202300 (3); Breast cancer, 114480 (3); {Basal cell carcinoma 7}, 614740 (3); {Glioma susceptibility 1}, 137800 (3) TP53BP2 1 223779899 223845972 Y . Y N -0.893111541 9.712334317 0.002018518 61.8 . . TP63 3 189631416 189897279 Y . Y N -1.461931297 3.565433814 0.983222202 11.2 DM Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, 604292 (3); Split-hand/foot malformation 4, 605289 (3); Hay-Wells syndrome, 106260 (3); ADULT syndrome, 103285 (3); Limb-mammary syndrome, 603543 (3); Rapp-Hodgkin syndrome, 129400 (3); Orofacial cleft 8, 129400 (3) TP73 1 3652520 3736201 Y . Y N -1.264908337 5.006656248 0.975977778 12.3 DP ?Neuroblastoma (1) TPH2 12 71938846 72186618 Y . Y N -0.363537126 26.20825375 0.696911876 24.7 DM {Unipolar depression, susceptibility to}, 608516 (3); {Attention deficit-hyperactivity disorder, susceptibility to, 7}, 613003 (3) TPI1 12 6867119 6870948 Y . Y N -0.203255573 35.26075129 0.581366832 27.9 DM Hemolytic anemia due to triosephosphate isomerase deficiency, 615512 (3) TPM1 15 63042632 63071915 Y . Y N -0.364648146 26.14458529 0.799470022 21.7 DM Cardiomyopathy, hypertrophic, 3, 115196 (3); Cardiomyopathy, dilated, 1Y, 611878 (3); Left ventricular noncompaction 9, 611878 (3) TPM3 1 154155304 154194648 Y . Y N -0.439679063 22.75279273 0.191983984 38.9 DM Nemaline myopathy 1, autosomal dominant or recessive, 609284 (3); CAP myopathy 1, 609284 (3); Myopathy, congenital, with fiber-type disproportion, 255310 (3) TPT1 13 45333471 45341370 Y . Y N -0.322501565 28.10673149 0.94644228 15.1 . . TPX2 20 31739271 31801805 Y . Y N -0.80048623 11.58187185 0.992124193 9.4 . . TRA2B 3 185915906 185938136 Y . Y N -0.246513473 32.65613243 0.988418187 10.3 DM? . TRAF2 9 136881912 136926607 Y . Y N -0.751788615 12.55426289 0.996480875 7.7 . . TRAF3 14 102777476 102911500 Y . Y N -0.318518891 28.37876946 0.998405669 6.6 DM {?Herpes simplex encephalitis, susceptibility to, 3}, 614849 (3) TRAF3IP1 2 238320441 238400900 Y . Y N 0.514618873 81.05573884 0.000159262 70.5 DP . TRAF4 17 28743984 28750958 Y . Y N -0.502420818 20.06714129 0.840038712 20.3 . . TRAF6 11 36487027 36510272 Y . Y N -0.474322733 21.23632575 0.996923826 7.6 DM . TRAIP 3 49828599 49856574 Y . Y N -0.084012126 43.26561324 0.125103592 41.8 . . TRAM2 6 52497402 52576915 N . Y N -0.125354587 40.43526075 0.995357865 8.3 . . TRIM28 19 58544091 58550722 Y . Y N -1.201051275 5.562308271 0.999902029 3.8 . . TRIM33 1 114392777 114511160 Y . Y N -1.344732532 4.358395555 0.999998356 1.9 . . TRIM45 1 117111060 117122587 Y . Y N 0.703155926 86.95954159 1.45E-06 82 . . TRIM71 3 32818018 32897826 Y . Y N -0.923411499 9.168258378 0.993173544 9.1 . . TRIO 5 14143702 14532128 Y . Y N -4.36744287 0.15048909 1 0.2 DM? . TRIOBP 22 37697004 37776556 Y . Y N 2.98607983 99.53116861 8.95E-13 95.3 DM Deafness, autosomal recessive 28, 609823 (3) TRIP11 14 91965991 92040896 Y . Y N 1.01565351 92.955953 2.34E-09 90.4 DM Achondrogenesis, type IA, 200600 (3) TRIP12 2 229763838 229923239 Y . Y N -2.966870748 0.613532442 1 0.3 DM? . TRMT1 19 13104902 13117567 N Subviable Y N -0.571560634 17.60722348 8.74E-06 78.4 DM . TRO X 54920462 54931431 Y . Y N 0.602095104 84.16970539 0.00166962 62.6 . . TRPC3 4 121879027 121951754 N Lethal Y N -0.780845438 11.99282283 0.000446956 67.4 FP ?Spinocerebellar ataxia 41, 616410 (3) TRPC4AP 20 35002404 35092871 Y . Y N -1.066937543 6.968802454 0.999538656 5.1 . . TRPM6 9 74722495 74888094 Y . Y N -1.410574746 3.866411993 0.588344973 27.8 DM Hypomagnesemia 1, intestinal, 602014 (3) TRPM7 15 50552473 50686815 Y . Y N -2.717088877 0.775597615 1.66E-08 88.4 DM? {Amyotrophic lateral sclerosis-parkinsonism/dementia complex, susceptibility to}, 105500 (3) TRPS1 8 115408496 115809673 Y . Y N -0.581642036 17.34097355 0.990109018 9.9 DM Trichorhinophalangeal syndrome, type I, 190350 (3); Trichorhinophalangeal syndrome, type III, 190351 (3) TRRAP 7 98877933 99013243 Y . Y N -8.028544114 0.011576084 1 0.1 DM? . TRUB2 9 128305161 128322742 Y . Y N 0.506964925 80.73739654 0.001495702 63 . . TSC1 9 132891348 132944633 Y . Y N -0.214938193 34.59512647 0.999978334 2.9 DM Tuberous sclerosis-1, 191100 (3); Lymphangioleiomyomatosis, 606690 (3); Focal cortical dysplasia, Taylor balloon cell type, 607341 (3) TSC2 16 2047465 2088720 Y . Y N -2.772348931 0.735081322 0.999999983 0.9 DM Tuberous sclerosis-2, 613254 (3); Lymphangioleiomyomatosis, somatic, 606690 (3) TSFM 12 57782589 57808071 Y . Y N 0.526605081 81.48984199 9.80E-08 86.1 DM Combined oxidative phosphorylation deficiency 3, 610505 (3) TSG101 11 18468336 18527232 Y . Y N -0.30079494 29.40904092 0.982720287 11.3 . Breast cancer, somatic, 114480 (3) TSHR 14 80954989 81146302 Y . Y N -0.409211558 23.97985761 5.80E-06 79.2 DM Hypothyroidism, congenital, nongoitrous, 1 275200 (3); Thyroid adenoma, hyperfunctioning, somatic (3); Hyperthyroidism, nonautoimmune, 609152 (3); Thyroid carcinoma with thyrotoxicosis (3); Hyperthyroidism, familial gestational, 603373 (3) TSHZ1 18 75210755 75289950 Y . Y N -1.469038263 3.513341437 0.93955948 15.6 DM Aural atresia, congenital, 607842 (3) TSHZ2 20 52972407 53495330 Y . Y N -0.473726939 21.28263009 0.406843773 32.6 . . TSHZ3 19 31274945 31349547 Y . Y N -0.834854916 10.88730682 0.425645582 32.1 . . TSTA3 8 143612618 143618048 Y . Y N -0.197513786 35.67170226 0.004991924 58.1 . . TTBK2 15 42738734 42920809 Y . Y N -0.157633698 38.17213637 0.996929375 7.6 DM Spinocerebellar ataxia 11, 604432 (3) TTC26 7 139133744 139191986 N . Y N -0.635563637 15.77820223 0.007670003 56.2 . . TTC7A 2 46916157 47076137 Y . Y N -0.003743909 49.11732361 1.96E-09 90.5 DM Gastrointestinal defects and immunodeficiency syndrome, 243150 (3) TTC8 14 88824153 88881078 Y . Y N -0.362580181 26.22561787 0.345392612 34.4 DM Bardet-Biedl syndrome 8, 615985 (3); ?Retinitis pigmentosa 51, 613464 (3) TTL 2 112482154 112541739 Y . Y N -0.521256062 19.41309255 0.984657699 11 . . TTN 2 178525989 178830802 Y . Y N -3.850260778 0.260461886 1.21E-32 99.8 DM Cardiomyopathy, familial hypertrophic, 9, 613765 (3); Cardiomyopathy, dilated, 1G, 604145 (3); Tibial muscular dystrophy, tardive, 600334 (3); Muscular dystrophy, limb-girdle, type 2J, 608807 (3); Myopathy, proximal, with early respiratory muscle involvement, 603689 (3); Myopathy, early-onset, with fatal cardiomyopathy, 611705 (3) TTYH1 19 54415219 54436900 Y . Y N 0.423473783 77.05041384 0.998439974 6.6 . . TUBB2B 6 3224261 3231730 Y . Y N -0.141470476 39.31238062 . . DM Polymicrogyria, symmetric or asymmetric, 610031 (3) TUBB3 16 89919165 89936092 Y . Y N -0.822343474 11.1188285 0.960789307 13.9 DM Fibrosis of extraocular muscles, congenital, 3A, 600638 (3); Cortical dysplasia, complex, with other brain malformations 1, 614039 (3) TUBG1 17 42609676 42615234 Y . Y N -0.665731542 14.86947966 0.975922884 12.3 DM Cortical dysplasia, complex, with other brain malformations 4, 615412 (3) TULP3 12 2877223 2941140 Y Lethal Y N 0.404791194 76.08381085 0.001036889 64.6 DM? . TWIST1 7 19020991 19117672 Y . Y N -0.149930626 38.75094056 0.182033891 39.2 DM Saethre-Chotzen syndrome, 101400 (3); Saethre-Chotzen syndrome with eyelid anomalies, 101400 (3); Craniosynostosis, type 1, 123100 (3); Robinow-Sorauf syndrome, 180750 (3) TWIST2 2 238848032 238910543 Y Subviable Y N . . 0.443476734 31.6 DM Focal facial dermal dysplasia 3, Setleis type, 227260 (3); Barber-Say syndrome, 209885 (3); Ablepharon-macrostomia syndrome, 200110 (3) TWSG1 18 9334767 9402420 Y . Y N -0.108587205 41.55814088 0.890252416 18.2 . . TXN 9 110243811 110256640 Y . Y N 0.190579485 63.80158592 0.417886376 32.3 . . TXN2 22 36467036 36482030 Y . Y N -0.116090248 41.04300515 0.005545678 57.7 DFP . TXNRD1 12 104215779 104350305 Y . Y N -0.187140168 36.325751 0.002337547 61.4 . . TXNRD2 22 19875517 19941992 Y . Y N 0.341091042 72.94669213 1.07E-08 88.8 DM . TYR 11 89177452 89295759 Y . Y N -0.746049629 12.74526828 7.26E-21 98.8 DM Albinism, oculocutaneous, type IA, 203100 (3); Waardenburg syndrome/albinism, digenic, 103470 (3); Albinism, oculocutaneous, type IB, 606952 (3); [Skin/hair/eye pigmentation 3, light/dark/freckling skin], 601800 (3); {Melanoma, cutaneous malignant, susceptibility to, 8}, 601800 (3); [Skin/hair/eye pigmentation 3, blue/green eyes], 601800 (3) TYRP1 9 12685439 12710290 Y . Y N 0.057890757 53.94455056 4.48E-21 98.9 DM Albinism, oculocutaneous, type III, 203290 (3); [Skin/hair/eye pigmentation, variation in, 11 (Melanesian blond hair)], 612271 (3) UBA2 19 34428352 34471251 Y . Y N -0.524930204 19.22208717 0.999673179 4.7 . . UBA3 3 69054730 69080408 Y . Y N -1.101889561 6.528911269 0.967546958 13.3 DM . UBA5 3 132654446 132678097 Y . Y N -0.226721694 33.94107773 0.745375692 23.3 . . UBA6 4 67612652 67701179 Y . Y N -0.991755546 8.004861955 0.932317517 16 . . UBAP1 9 34179005 34252523 Y . Y N -0.673079812 14.68426231 0.952984527 14.5 . . UBC 12 124911604 124917368 Y . Y N -2.195679342 1.284945303 0.704156667 24.5 . . UBE2A X 119574467 119591083 Y . Y N 0.112678313 58.18139723 0.798143754 21.7 DM Mental retardation, X-linked syndromic, Nascimento-type, 300860 (3) UBE2B 5 134371179 134391992 N Subviable Y N -0.10491211 41.78387452 0.320977559 35.1 DM ?Male infertility (1) UBE2C 20 45812576 45816957 N Lethal Y N -0.062612024 44.95572148 0.218752616 38.1 . . UBE2H 7 129830732 129952949 N Lethal Y N -0.067396649 44.56792267 0.970971739 12.9 . . UBE2I 16 1308880 1327018 Y . Y N -0.126464329 40.30213579 0.943944487 15.3 DFP . UBE2L3 22 21549447 21624034 Y . Y N 0.082665704 55.90669676 0.778719691 22.3 . . UBE2M 19 58555712 58558960 N Lethal Y N -0.035470476 46.91207964 0.619518063 27 . . UBE2N 12 93405673 93442262 Y . Y N 0.061112993 54.1992244 0.787720768 22 . . UBE2O 17 76389451 76453206 N Subviable Y N -1.12859884 6.303177635 0.999985318 2.7 . . UBE2Q1 1 154548577 154559028 Y . Y N -0.055108985 45.45349308 0.969363487 13.1 . . UBE3A 15 25333728 25439056 Y . Y N -1.295075174 4.723042195 0.999576244 5 DM Angelman syndrome, 105830 (3) UBE3B 12 109477402 109536705 Y . Y N -2.325900697 1.09393992 0.009387706 55.2 DM Kaufman oculocerebrofacial syndrome, 244450 (3) UBE4B 1 10032832 10181239 Y . Y N -1.083574347 6.731492736 0.999987414 2.6 . . UBLCP1 5 159263081 159286040 N Subviable Y N -0.434090717 23.00746657 0.118128583 42.2 . . UBP1 3 33388336 33441371 Y . Y N -0.615925383 16.32227817 0.999799487 4.3 . . UBR2 6 42564062 42693504 Y . Y N -1.81619332 2.158939631 0.99999988 1.2 . . UBR3 2 169827458 170084131 Y . Y N . . 0.999549124 5.1 DM? . UBR4 1 19074506 19210276 Y . Y N -8.191159789 0.005788042 1 0.1 . . UBR5 8 102253012 102412841 Y . Y N -4.143591237 0.185217341 1 0.1 DM? . UCHL5 1 193012250 193060080 Y Lethal Y N -0.145145404 39.04034265 0.781096748 22.2 . . UFL1 6 96521595 96555276 Y . Y N -0.312627457 28.7434161 1.91E-12 95 . . UGCG 9 111896766 111935369 Y . Y N -0.425630209 23.29686867 0.982568592 11.3 . . UGDH 4 39498755 39528311 Y . Y N -0.314843927 28.5639868 5.54E-05 73.6 DM . UHRF1 19 4903080 4962154 Y . Y N . . . . . . UHRF2 9 6413151 6507054 N Subviable Y N -1.009777476 7.738612028 0.999646144 4.8 . . UNC13A 19 17601328 17688365 Y . Y N -1.617480162 2.778260115 0.999986711 2.7 FTV . UNC13B 9 35161992 35405338 N Subviable Y N -1.447252369 3.692770736 6.60E-05 73.1 DM? . UNC45A 15 90930180 90954093 N Lethal Y N -0.277684856 30.73450252 9.49E-08 86.2 . . UNC45B 17 35147817 35189345 Y . Y N 0.609758245 84.46489553 2.77E-08 87.8 . ?Cataract 43, 616279 (3) UNC5B 10 71212570 71302864 Y . Y N 1.276962113 95.61266424 0.000746121 65.7 . . UNC5C 4 95162504 95549206 Y . Y N -0.432530759 23.07692308 0.016927005 52.5 DM . UNC79 14 93333219 93707876 Y . Y N -2.98174709 0.6077444 1 0.4 . . UNCX 7 1232907 1237318 Y . Y N . . . . . . UPF1 19 18831938 18868236 Y . Y N -2.281935617 1.157608381 0.999926075 3.5 . . UPF2 10 11920022 12043170 Y . Y N -1.923419812 1.840597326 0.999998269 1.9 DM? . UPK2 11 118925164 118958559 Y . Y N 0.628782299 85.00897146 2.80E-06 80.6 . . UQCRB 8 96225920 96235634 N Lethal Y N 0.381984452 75.00723505 0.206960118 38.5 DM Mitochondrial complex III deficiency, nuclear type 3, 615158 (3) UQCRFS1 19 29205321 29213541 Y . Y N -0.124550289 40.46420096 0.694438038 24.8 . . UROD 1 45012147 45015575 Y . Y N -0.09438571 42.50159171 0.00014221 70.8 DM Porphyria cutanea tarda, 176100 (3); Porphyria, hepatoerythropoietic, 176100 (3) UROS 10 125784980 125823248 Y . Y N 0.144753827 60.57185854 0.012274951 54.1 DM Porphyria, congenital erythropoietic, 263700 (3) USE1 19 17215346 17219829 Y . Y N -0.152648436 38.52520692 0.014841706 53.2 . . USF2 19 35268978 35279821 Y . Y N -0.335593115 27.47004688 0.992520444 9.3 . . USO1 4 75724593 75814286 Y . Y N . . 0.918011906 16.8 . . USP1 1 62436297 62451804 Y . Y N -0.591349706 17.00526712 0.993180568 9.1 . . USP10 16 84699978 84779922 N Lethal Y N 0.536481693 81.92394513 0.988853453 10.2 . . USP14 18 158383 214629 Y Lethal Y N -0.011852785 48.56745963 0.927536808 16.3 . . USP16 21 29024629 29054488 Y Lethal Y N -0.345509503 26.97227528 0.005864863 57.3 . . USP22 17 20999593 21043760 Y Lethal Y N -0.526844603 19.11790241 0.983292792 11.2 . . USP3 15 63504511 63594640 N Subviable Y N -0.963951725 8.491057475 0.984379976 11 . . USP36 17 78787381 78841441 N Lethal Y N -0.110403666 41.41922788 0.068552675 45.2 . . USP37 2 218450251 218568361 N . Y N -0.193535266 35.90901198 0.998322479 6.7 . . USP39 2 85602856 85649282 N Lethal Y N -0.55398566 18.10499508 0.031607796 49.4 . . USP5 12 6852128 6866632 Y . Y N -1.45810714 3.588585981 0.996309625 7.8 . . USP50 15 50500562 50546708 N Lethal Y N 0.852118493 90.23557331 1.23E-14 96.6 . . USP7 16 8892094 8964514 Y . Y N -1.962040432 1.747988655 0.999999998 0.6 DM? . USP8 15 50424380 50514419 Y . Y N 0.175220462 62.87549922 0.999982629 2.8 . . UTF1 10 133230274 133231558 Y . Y N . . 0.150834366 40.6 FP . UXS1 2 106093303 106194339 Y . Y N -0.666689105 14.82317532 0.06615534 45.4 . . VAC14 16 70687439 70801161 Y . Y N -1.231067411 5.301846385 0.629700168 26.7 . . VAMP1 12 6462237 6470987 Y . Y N 0.115548149 58.40713087 0.673786666 25.4 DM Spastic ataxia 1, autosomal dominant, 108600 (3) VAMP2 17 8159149 8163546 Y . Y N 0.31158679 71.14082306 0.837117601 20.4 . . VAMP8 2 85561562 85582031 Y . Y N 0.206542259 64.76240088 0.270489594 36.4 . . VANGL2 1 160400586 160428678 Y . Y N -0.184269704 36.49939226 0.948574652 14.9 DM Neural tube defects, 182940 (3) VAV1 19 6772714 6857366 Y . Y N -0.906641191 9.463448515 0.999993063 2.4 DM . VAX1 10 117128521 117138301 Y . Y N . . 0.534984091 29 DM ?Microphthalmia, syndromic 11, 614402 (3) VCAM1 1 100719742 100739045 Y . Y N -0.294901399 29.71580714 0.781503144 22.2 DP . VCAN 5 83471465 83582303 Y . Y N -0.249005421 32.51143138 0.999750598 4.5 DM Wagner syndrome 1, 143200 (3) VCL 10 73995193 74121363 Y . Y N -0.695292411 14.09388204 0.994870402 8.5 DM Cardiomyopathy, dilated, 1W, 611407 (3); Cardiomyopathy, hypertrophic, 15, 613255 (3) VCP 9 35056064 35073249 Y . Y N -0.948944659 8.739943277 0.999992047 2.4 DM Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1, 167320 (3); Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia, 613954 (3) VDAC1 5 133971915 134005133 Y . Y N -0.523170861 19.29733171 0.975595138 12.4 . . VEGFA 6 43770184 43786487 Y . Y N -0.210758594 34.87295248 . . DM . VEGFC 4 176683538 176792727 Y . Y N 0.262082672 68.1773456 0.115230709 42.3 DM Lymphedema, hereditary, ID, 615907 (3) VEZF1 17 57971547 57988259 Y . Y N -0.995880925 7.918041327 0.943031803 15.4 . . VEZT 12 95217746 95302790 Y Lethal Y N 0.831669756 89.83619841 0.025936851 50.4 . . VGF 7 101162509 101165593 Y . Y N -0.264083901 31.62007293 0.825896021 20.8 . . VHL 3 10141008 10152220 Y . Y N -0.260562407 31.82844244 0.0337352 49.1 DM von Hippel-Lindau syndrome, 193300 (3); Renal cell carcinoma, somatic, 144700 (3); Pheochromocytoma, 171300 (3); Hemangioblastoma, cerebellar, somatic (3); Erythrocytosis, familial, 2, 263400 (3) VIPR1 3 42489299 42537573 Y . Y N -0.129030009 40.15743474 8.28E-10 91.2 . . VKORC1 16 31090842 31095980 Y . Y N 0.746925466 88.0245413 0.081803076 44.3 DM Vitamin K-dependent clotting factors, combined deficiency of, 2, 607473 (3); Warfarin resistance, 122700 (3) VPRBP 3 51395867 51500002 Y . Y N . . . . . . VPS13D 1 12230067 12512047 Y Lethal Y N -4.887434622 0.098396712 0.999992132 2.4 . . VPS18 15 40894430 40903975 Y . Y N -1.068566293 6.939862245 0.939243017 15.6 . . VPS25 17 42773436 42779599 N Lethal Y N -0.124550289 40.46420096 0.735077728 23.6 . . VPS26A 10 69123512 69172861 Y . Y N -0.092624171 42.6520808 0.661577284 25.7 . . VPS33B 15 90998416 91022603 Y . Y N -1.082901473 6.74306882 2.91E-09 90.2 DM Arthrogryposis, renal dysfunction, and cholestasis 1, 208085 (3) VPS35 16 46656132 46689518 Y . Y N -1.218120977 5.411819182 0.993599132 9 DM {Parkinson disease 17}, 614203 (3) VPS37D 7 73667825 73672112 N Lethal Y N . . 0.656347211 25.9 . . VPS41 7 38722963 38932394 Y . Y N -0.449596612 22.3071135 1.16E-08 88.8 . . VPS4A 16 69311356 69326939 N Lethal Y N -0.240770687 32.9976269 0.912320744 17.2 . . VPS51 11 65089324 65111860 Y . Y N -0.905684255 9.475024599 6.38E-05 73.2 . . VPS52 6 33250272 33272047 Y . Y N -0.570753533 17.61879956 0.015963263 52.8 . . VPS53 17 508668 721717 Y . Y N -0.801442629 11.54135556 5.00E-05 73.9 . Pontocerebellar hypoplasia, type 2E, 615851 (3) VPS54 2 63892146 64019072 Y . Y N -1.002126797 7.83700874 0.94981674 14.8 . . VPS72 1 151169987 151195321 Y . Y N -0.435850038 22.9148579 0.24942857 37.1 . . VSX2 14 74239472 74262738 Y . Y N . . 0.116076833 42.3 DM . WAPAL 10 86435256 86521815 Y . Y N -1.335169968 4.451004225 0.999997765 2 . . WARS 14 100333788 100376805 N Lethal Y N -0.023988294 47.67610117 0.994700675 8.5 . . WARS2 1 119031216 119140671 N Lethal Y N 0.231113855 66.29623198 0.601342005 27.4 . . WASF1 6 110099819 110180004 Y . Y N -0.83639279 10.84679053 0.914369887 17 . . WASF2 1 27404226 27490158 Y . Y N -0.227525777 33.90056144 0.975317446 12.4 . . WASL 7 123681935 123749067 Y . Y N -0.473365526 21.30578225 0.961960487 13.8 . . WDPCP 2 63121383 63827843 Y . Y N 0.061566363 54.27446895 2.32E-09 90.4 DM ?Bardet-Biedl syndrome 15, 615992 (3); ?Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085 (3) WDR1 4 10074339 10116949 Y . Y N -1.003230595 7.819644614 0.994593463 8.6 . . WDR12 2 202874782 203014798 N Lethal Y N 0.278045399 69.20761706 0.609006891 27.2 . . WDR19 4 39182404 39285810 Y . Y N -0.389423628 24.98697691 1.73E-07 85.4 DM Nephronophthisis 13, 614377 (3); ?Cranioectodermal dysplasia 4, 614378 (3); ?Short-rib thoracic dysplasia 5 with or without polydactyly, 614376 (3); Senior-Loken syndrome 8, 616307 (3) WDR3 1 117929720 117966542 Y . Y N -0.647404139 15.47722406 3.05E-07 84.5 . . WDR35 2 19910260 19990131 Y . Y N 0.079747659 55.65202292 2.65E-16 97.6 DM Cranioectodermal dysplasia 2, 613610 (3); Short-rib thoracic dysplasia 7 with or without polydactyly, 614091 (3) WDR36 5 111091716 111130502 Y . Y N -0.534709998 18.79956011 0.544023667 28.8 DM Glaucoma 1, open angle, G, 609887 (3) WDR48 3 39051998 39096671 Y . Y N -0.977044237 8.276899925 0.999805648 4.3 . . WDR55 5 140664676 140674124 Y . Y N 0.665489359 86.0913353 1.48E-06 81.9 . . WDR59 16 74871367 75000173 N Lethal Y N -1.413766582 3.854835909 3.44E-11 93.6 . . WDR77 1 111439890 111449376 Y . Y N -0.074747377 44.06436303 0.015726571 52.9 . . WDR83 19 12666800 12675832 Y . Y N -0.047454069 46.03229727 8.21E-07 82.9 . . WDSUB1 2 159235793 159286799 N Subviable Y N -0.022074656 47.79186201 1.38E-06 82.1 . . WDTC1 1 27234516 27308633 Y . Y N -0.171177353 37.31550616 0.999307826 5.5 . . WEE1 11 9573681 9593457 Y Lethal Y N -0.195752553 35.7874631 0.99710577 7.5 . . WFS1 4 6269849 6303265 Y . Y N 1.876000077 98.3561961 . . DM Wolfram syndrome, 222300 (3); Deafness, autosomal dominant 6/14/38, 600965 (3); Wolfram-like syndrome, autosomal dominant, 614296 (3); {Diabetes mellitus, noninsulin-dependent, association with}, 125853 (3); ?Cataract 41, 116400 (3) WHSC1 4 1871424 1982207 Y . Y N -1.813448881 2.176303756 0.999999325 1.6 DM . WHSC1L1 8 38269697 38382272 N Subviable Y N -1.222468298 5.371302888 0.999999688 1.4 . Leukemia, acute myeloid, 601626 (3) WLS 1 68098473 68233120 Y . Y N -0.228330922 33.84268102 0.344541187 34.4 . . WNK1 12 752593 911452 Y . Y N -0.708559667 13.67135498 0.999999999 0.5 DM Pseudohypoaldosteronism, type IIC, 614492 (3); Neuropathy, hereditary sensory and autonomic, type II, 201300 (3) WNT1 12 48978453 48981676 Y . Y N 0.051847216 53.50465937 0.101878962 43 DM Osteogenesis imperfecta, type XV, 615220 (3); {Osteoporosis, early-onset, susceptibility to, autosomal dominant}, 615221 (3) WNT2 7 117276631 117323289 Y . Y N 0.156083554 61.48058112 0.611106305 27.2 . . WNT3 17 46762506 46833154 Y . Y N -0.553183496 18.11657116 0.946108101 15.2 DM ?Tetra-amelia syndrome, 273395 (3) WNT3A 1 228007051 228061260 Y . Y N -0.392745948 24.81333565 0.777794121 22.4 DM? . WNT4 1 22117305 22143969 Y . Y N -0.306383832 29.09069862 0.153837856 40.4 DM SERKAL syndrome, 611812 (3); Mullerian aplasia and hyperandrogenism, 158330 (3) WNT5A 3 55465715 55490539 Y . Y N -0.522213436 19.34942409 0.974673047 12.4 DM Robinow syndrome, autosomal dominant 1, 180700 (3) WNT6 2 218859821 218874233 N Lethal Y N . . 0.669265997 25.5 . . WNT7A 3 13816258 13880121 Y . Y N -0.705964203 13.78132778 0.441260495 31.7 DM Ulna and fibula, absence of, with severe limb deficiency, 276820 (3); Fuhrmann syndrome, 228930 (3) WNT7B 22 45920362 45977129 Y . Y N -0.963951725 8.491057475 0.00039154 67.8 . . WNT9A 1 227918656 227947898 Y . Y N -0.27637172 30.86762748 0.68038415 25.1 . . WNT9B 17 46833201 46886730 Y . Y N 0.385001656 75.16930023 0.051616811 46.8 . . WRAP53 17 7686071 7703502 N Lethal Y N -0.023836771 47.69925334 0.617463015 27 DM Dyskeratosis congenita, autosomal recessive 3, 613988 (3) WRN 8 31033801 31173769 Y . Y N 0.4815705 79.80552179 1.96E-16 97.6 DM Werner syndrome, 277700 (3) WT1 11 32387775 32435630 Y . Y N -0.201341563 35.40545234 . . DM Wilms tumor, type 1, 194070 (3); Denys-Drash syndrome, 194080 (3); Nephrotic syndrome, type 4, 256370 (3); Frasier syndrome, 136680 (3); Meacham syndrome, 608978 (3); Mesothelioma, somatic, 156240 (3) WTAP 6 159725585 159756319 Y . Y N -0.492200886 20.50124443 0.995576735 8.2 . . WTIP 19 34481638 34512304 N Subviable Y N . . 0.002799047 60.6 . . WWOX 16 78099413 79212667 Y . Y N 2.075953602 98.70347861 1.94E-08 88.2 DM Esophageal squamous cell carcinoma, somatic, 133239 (3); Spinocrebellar ataxia, autosomal recessive 12, 614322 (3); Epileptic encephalopathy, early infantile, 28, 616211 (3) WWTR1 3 149517235 149736714 Y . Y N 0.336156875 72.63992591 0.918871194 16.8 . . XAB2 19 7619525 7629565 Y . Y N -1.158615451 6.007987498 0.99707026 7.5 . . XBP1 22 28794555 28800597 Y Lethal Y N -0.094538075 42.4726515 0.203748476 38.6 DFP {Major affective disorder-7, susceptibility to}, 612371 (3) XDH 2 31334321 31414715 Y . Y N 0.614885595 84.59223245 1.56E-13 95.9 DM Xanthinuria, type I, 278300 (3) XIAP X 123859724 123913979 Y . Y N 0.523736129 81.40302136 0.979278387 11.9 DM Lymphoproliferative syndrome, X-linked, 2, 300635 (3) XIRP2 2 166888487 167259753 Y . Y N 0.573560462 83.22046652 2.86E-37 99.9 . . XPA 9 97674909 97697357 Y . Y N 0.51527665 81.07889101 6.12E-05 73.3 DM Xeroderma pigmentosum, group A, 278700 (3) XPNPEP1 10 109864766 109923553 Y . Y N -0.844699643 10.67314927 0.964214097 13.6 . . XPOT 12 64404350 64451127 N Subviable Y N -1.133515748 6.222145048 0.997933923 7 . . XRCC1 19 43543040 43580473 Y . Y N 1.049426086 93.35532789 1.45E-07 85.7 DFP . XRCC2 7 152644779 152676165 Y . Y N -0.074747377 44.06436303 4.24E-06 79.8 DM . XRCC3 14 103697609 103715504 N Lethal Y N 0.378306375 74.85095792 6.32E-08 86.7 DM {Melanoma, cutaneous malignant, 6}, 613972 (3); {Breast cancer, susceptibility to}, 114480 (3) XRCC4 5 83077498 83353787 Y . Y N 0.290181792 69.94269839 0.001250643 63.8 DFP Short stature, microcephaly, and endocrine dysfunction, 616541 (3) XRCC5 2 216107464 216206303 Y . Y N -0.299685249 29.47849742 0.999991832 2.4 DFP . XYLT1 16 17101769 17470881 Y . Y N -1.03009139 7.478150142 0.985159711 10.9 DFP {Pseudoxanthoma elasticum, modifier of severity of}, 264800 (3); Desbuquois dysplasia 2, 615777 (3) YAE1D1 7 39566376 39610320 N Lethal Y N 0.438331876 77.80285929 0.125672788 41.8 . . YAP1 11 102110461 102233423 Y . Y N -0.125354587 40.43526075 0.9985478 6.5 DFP Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation, 120433 (3); Coloboma, ocular, 120433 (3) YARS 1 32775237 32818153 N Lethal Y N -0.666533619 14.84053945 0.000308554 68.5 DM Charcot-Marie-Tooth disease, dominant intermediate C, 608323 (3) YBX1 1 42682427 42702349 Y . Y N -0.228635876 33.80216473 0.990640769 9.8 . . YIPF5 5 144158159 144170714 N Lethal Y N 0.354840535 73.70492562 0.931585721 16 . . YWHAE 17 1344272 1400378 Y . Y N -0.239010401 33.13075187 0.964161142 13.6 DM . YWHAQ 2 9583972 9631014 Y . Y N -0.412538803 23.77148811 0.873107724 18.9 . . YY1 14 100238298 100282792 Y . Y N 0.044344174 52.90849106 0.967830955 13.2 DM . ZBED4 22 49853842 49890078 N Subviable Y N -0.813164763 11.32140997 0.989506768 10 . . ZBTB17 1 15941869 15976132 Y . Y N -0.888763627 9.822307114 0.998165365 6.8 . . ZBTB18 1 244048939 244057476 Y . Y N -1.190977389 5.672281067 0.970123549 13 . ?Mental retardation, autosomal dominant 22, 612337 (3) ZBTB20 3 114338094 115147271 Y . Y N -0.967626441 8.421600972 0.98255723 11.4 DM? Primrose syndrome, 259050 (3) ZBTB24 6 109462594 109483237 N Lethal Y N -0.893397306 9.700758233 0.000201035 69.8 DM Immunodeficiency-centromeric instability-facial anomalies syndrome-2, 614069 (3) ZBTB46 20 63743666 63831244 N Subviable Y N -1.028462502 7.507090351 0.814437308 21.1 . . ZBTB7A 19 4044364 4066945 Y . Y N -0.709793585 13.64241477 . . . . ZC3HC1 7 130018286 130051451 Y . Y N -0.11115351 41.40186375 0.000510516 67 FTV . ZCCHC11 1 52408282 52553487 Y . Y N -1.820002019 2.141575505 0.999999999 0.6 . . ZEB1 10 31318495 31529814 Y . Y N -0.309757942 28.94599757 0.983612745 11.2 DM Corneal dystrophy, posterior polymorphous, 3, 609141 (3); Corneal dystrophy, Fuchs endothelial, 6, 613270 (3) ZEB2 2 144384081 144524583 Y . Y N -0.820127946 11.18249696 0.999833867 4.2 DM Mowat-Wilson syndrome, 235730 (3) ZFAND5 9 72351425 72365235 Y . Y N 0.010504826 50.32702437 0.912585067 17.1 . . ZFAT 8 134477788 134713049 Y . Y N -0.213833671 34.67615906 0.002928673 60.4 DFP . ZFHX3 16 72782885 73059698 Y . Y N -3.952548359 0.208369509 1 0.5 DP {Prostate cancer, susceptibility to, somatic}, 176807 (3) ZFP36 19 39406813 39409412 N Lethal Y N 0.421560678 76.91728888 0.645934183 26.2 DFP . ZFP36L1 14 68787660 68796253 Y . Y N -0.136685385 39.64229901 0.506697565 29.8 DM . ZFP36L2 2 43222402 43226609 Y . Y N -0.658073323 15.10678937 0.456433762 31.2 . . ZFP57 6 29672392 29681110 Y . Y N 0.734932275 87.72356312 0.001815937 62.3 DM Diabetes mellitus, transient neonatal, 1, 601410 (3) ZFPM1 16 88453317 88537016 Y . Y N . . 0.031491837 49.5 . . ZFPM2 8 104590733 105804532 Y . Y N -0.105111665 41.76651039 0.999955694 3.2 DM Tetralogy of Fallot, 187500 (3); Diaphragmatic hernia 3, 610187 (3); 46XY sex reversal 9, 616067 (3) ZFR 5 32354350 32444761 Y . Y N -1.09040526 6.662036233 0.99999967 1.4 . . ZFX X 24149173 24216255 Y . Y N -0.289463756 30.10939399 0.98613345 10.7 . . ZHX3 20 41178448 41317672 N Subviable Y N -0.91576265 9.2955953 0.354421203 34.1 DM . ZIC1 3 147393422 147510293 Y . Y N -0.616882625 16.28176188 0.825224393 20.8 DM . ZIC2 13 99981772 99986773 Y . Y N -0.525085865 19.18735892 . . DM Holoprosencephaly-5, 609637 (3) ZIC3 X 137566142 137577691 Y . Y N 0.307908866 70.93824159 0.822806978 20.9 DM Heterotaxy, visceral, 1, X-linked 306955 (3); Congenital heart defects, nonsyndromic, 1, X-linked, 306955 (3); VACTERL association, X-linked, 314390 (3) ZIC4 3 147386046 147406860 Y . Y N 0.521971277 81.33356486 0.001816904 62.3 . . ZIC5 13 99962964 99971909 Y . Y N . . . . . . ZMIZ1 10 79069035 79316528 Y . Y N -2.660996798 0.827689992 0.999743701 4.5 . . ZMIZ2 7 44748581 44769881 N Lethal Y N -1.275953034 4.885107368 0.999620382 4.9 . . ZMPSTE24 1 40258107 40294184 Y . Y N -0.819471332 11.19407305 1.25E-07 85.9 DM Mandibuloacral dysplasia with type B lipodystrophy, 608612 (3); Restrictive dermopathy, lethal, 275210 (3) ZMYM2 13 19958670 20091829 N . Y N -1.600695349 2.836140534 0.974459956 12.5 DM? . ZNF148 3 125225561 125375354 Y Lethal Y N -1.082095186 6.766220987 0.932274762 16 . . ZNF207 17 32350117 32381886 N Lethal Y N -0.776365873 12.0854315 0.054263846 46.5 . . ZNF24 18 35332212 35345482 Y . Y N 0.113784984 58.30294611 0.995634783 8.1 DP . ZNF266 19 9412598 9435578 N Subviable Y N -0.085774145 43.14406436 1.25E-09 91 . . ZNF274 19 58183029 58213562 Y . Y N . . 0.007249822 56.4 . . ZNF281 1 200404940 200410056 Y . Y N -0.73678193 12.99415408 0.95167159 14.6 . . ZNF335 20 45948653 45972172 Y . Y N -1.437844852 3.744863113 0.006503002 56.9 DM ?Microcephaly 10, primary, autosomal recessive, 615095 (3) ZNF346 5 177022696 177081189 N Subviable Y N -0.26151962 31.75319789 0.782525685 22.2 . . ZNF385A 12 54369133 54391298 Y . Y N -0.092624171 42.6520808 0.848554694 20 . . ZNF394 7 99486519 99500324 Y . Y N -0.160803945 37.95797882 0.043334824 47.8 . . ZNF423 16 49487524 49857919 Y . Y N -1.509306234 3.299183886 0.990468533 9.9 DM Nephronophthisis 14, 614844 (3); Joubert syndrome 19, 614844 (3) ZNF48 16 30378106 30400108 Y . Y N -0.88780693 9.845459281 0.032425146 49.3 . . ZNF496 1 247297412 247331846 N Lethal Y N -0.507858025 19.88771199 0.983327488 11.2 . . ZNF536 19 30228290 30713538 N Lethal Y N -2.316385537 1.111304046 0.965216842 13.5 . . ZNF689 16 30602558 30624012 N Subviable Y N -1.009930576 7.727035944 0.31873733 35.2 . . ZNF830 17 34961530 34963775 Y . Y N -0.244445663 32.81240956 0.447637076 31.5 . . ZNRF3 22 28883592 29057487 Y . Y N -0.63990073 15.67401748 0.995712186 8.1 . . ZPR1 11 116773799 116788050 Y . Y N . . . . . . ZRANB1 10 124942123 124988189 N Subviable Y N -1.081138099 6.783585113 0.99983985 4.2 . . ZRANB2 1 71063291 71081297 Y . Y N -0.529716584 19.0195057 0.99288109 9.2 . . ZSCAN10 16 3088890 3099317 N . Y N -0.538678635 18.63749494 0.006066062 57.2 . . ZSWIM5 1 45016399 45306209 N Subviable Y N -0.583698227 17.27730509 0.116879096 42.3 . . ZZZ3 1 77562416 77683419 Y . Y N -0.482478742 20.87746715 0.999729639 4.5 . .