| ABCA4 | 0 |
| ABCC9 | 0 |
| ACAN | 0 |
| ACTA2 | 0 |
| ACTC1 | 0 |
| ACTG1 | 0 |
| ACTN2 | 0 |
| ACVR2B | 0 |
| ADAM9 | 0 |
| AHI1 | 0 |
| AIPL1 | 0 |
| ALS2 | 0 |
| ANG | 0 |
| ANK2 | 0 |
| APOE | 0 |
| APP | 0 |
| ARL13B | 0 |
| ARL6 | 0 |
| ARVCF | 0 |
| ATP6V0A2 | 0 |
| ATP7A | 0 |
| ATXN1 | 0 |
| ATXN2 | 0 |
| ATXN3 | 0 |
| ATXN7 | 0 |
| ATXN8 | 0 |
| Achromatopsia | 0 |
| Alzheimer disease, familial | 0 |
| Amyotrophic lateral sclerosis | 0 |
| Anophthalmia - Microphthalmia, isolated | 0 |
| Arrhythmogenic right ventricular dysplasia | 0 |
| Atrial fibrillation, familial | 0 |
| Autosomal dominant Charcot-Marie-Tooth disease, type 2 | 0 |
| Autosomal dominant cerebellar ataxia | 0 |
| BAZ1B | 0 |
| BBS1 | 0 |
| BBS10 | 0 |
| BBS12 | 0 |
| BBS2 | 0 |
| BBS4 | 0 |
| BBS5 | 0 |
| BBS7 | 0 |
| BBS9 | 0 |
| BCKDHA | 0 |
| BCKDHB | 0 |
| BCL7B | 0 |
| BCR | 0 |
| BCS1L | 0 |
| BFSP1 | 0 |
| BFSP2 | 0 |
| BSND | 0 |
| Bardet-Biedl syndrome | 0 |
| Bartter syndrome | 0 |
| C14orf104 | 0 |
| C1QTNF5 | 0 |
| C20orf7 | 0 |
| C8orf38 | 0 |
| CA4 | 0 |
| CABP4 | 0 |
| CACNA1A | 0 |
| CACNA1C | 0 |
| CACNA1F | 0 |
| CACNA2D4 | 0 |
| CAV3 | 0 |
| CBFB | 0 |
| CC2D2A | 0 |
| CCDC50 | 0 |
| CDH23 | 0 |
| CEP290 | 0 |
| CERKL | 0 |
| CFC1 | 0 |
| CFC1B | 0 |
| CHMP2B | 0 |
| CHMP4B | 0 |
| CHST3 | 0 |
| CLCNKA | 0 |
| CLCNKB | 0 |
| CLDN14 | 0 |
| CLIP2 | 0 |
| CLRN1 | 0 |
| CNGA1 | 0 |
| CNGA3 | 0 |
| CNGB1 | 0 |
| CNGB3 | 0 |
| COCH | 0 |
| COL11A1 | 0 |
| COL11A2 | 0 |
| COL17A1 | 0 |
| COL2A1 | 0 |
| COL7A1 | 0 |
| COL9A1 | 0 |
| COL9A2 | 0 |
| COL9A3 | 0 |
| COMP | 0 |
| COX10 | 0 |
| COX15 | 0 |
| CRB1 | 0 |
| CRX | 0 |
| CRYAA | 0 |
| CRYAB | 0 |
| CRYBA1 | 0 |
| CRYBA4 | 0 |
| CRYBB1 | 0 |
| CRYBB2 | 0 |
| CRYBB3 | 0 |
| CRYGC | 0 |
| CRYGD | 0 |
| CRYM | 0 |
| CSRP3 | 0 |
| Cardiomyopathy, familial dilated | 0 |
| Cardiomyopathy, hypertrophic, primary or idiopathic | 0 |
| Cataract, cerulean | 0 |
| Cataract, posterior polar | 0 |
| Cataract, pulverulent | 0 |
| Cataract, zonular | 0 |
| Charcot-Marie-Tooth disease, type 1 | 0 |
| Coenzyme Q cytochrome c reductase deficiency | 0 |
| Colon cancer, familial nonpolyposis | 0 |
| Cone rod dystrophy | 0 |
| Conotruncal heart malformations | 0 |
| Cutis laxa | 0 |
| DBT | 0 |
| DDR2 | 0 |
| DES | 0 |
| DFNA5 | 0 |
| DFNB31 | 0 |
| DFNB59 | 0 |
| DIAPH1 | 0 |
| DLAT | 0 |
| DLD | 0 |
| DMD | 0 |
| DNAH11 | 0 |
| DNAH5 | 0 |
| DNAI1 | 0 |
| DNAI2 | 0 |
| DNAJC30 | 0 |
| DSC2 | 0 |
| DSG2 | 0 |
| DSP | 0 |
| Deafness, autosomal dominant, nonsyndromic, sensorineural, type DFNA | 0 |
| Deafness, autosomal recessive, nonsyndromic, sensorineural, type DFNB | 0 |
| Dejerine-Sottas syndrome | 0 |
| EFEMP2 | 0 |
| EGR2 | 0 |
| EIF4H | 0 |
| ELN | 0 |
| EMD | 0 |
| EPHA2 | 0 |
| ESPN | 0 |
| ESRRB | 0 |
| ETV6 | 0 |
| EYA4 | 0 |
| Emery-Dreifuss muscular dystrophy | 0 |
| Epidermolysis bullosa, epidermolytic | 0 |
| Epidermolysis bullosa, generalized atrophic benign | 0 |
| Epidermolysis bullosa, junctional | 0 |
| Epidermolysis bullosa, junctional, non-Herlitz type | 0 |
| Epiphyseal dysplasia multiple | 0 |
| FBLN5 | 0 |
| FBN1 | 0 |
| FGF14 | 0 |
| FHL2 | 0 |
| FIG4 | 0 |
| FKBP6 | 0 |
| FKRP | 0 |
| FKTN | 0 |
| FLT3 | 0 |
| FSCN2 | 0 |
| FUS | 0 |
| Fatal infantile cytochrome C oxidase deficiency | 0 |
| Frontotemporal dementia | 0 |
| GARS | 0 |
| GATA4 | 0 |
| GDAP1 | 0 |
| GDF1 | 0 |
| GJA1 | 0 |
| GJA3 | 0 |
| GJA8 | 0 |
| GJB2 | 0 |
| GJB3 | 0 |
| GJB6 | 0 |
| GLIS2 | 0 |
| GNAT1 | 0 |
| GNAT2 | 0 |
| GPR98 | 0 |
| GRHL2 | 0 |
| GRM6 | 0 |
| GRN | 0 |
| GTF2I | 0 |
| GTF2IRD1 | 0 |
| GTPBP3 | 0 |
| GUCA1A | 0 |
| GUCA1B | 0 |
| GUCY2D | 0 |
| HGF | 0 |
| HMCN1 | 0 |
| HSF4 | 0 |
| HSPB1 | 0 |
| HSPB8 | 0 |
| HTRA1 | 0 |
| Heterotaxia | 0 |
| IDH3B | 0 |
| IFRD1 | 0 |
| IMPDH1 | 0 |
| INPP5E | 0 |
| INVS | 0 |
| IQCB1 | 0 |
| ITGA6 | 0 |
| ITGB4 | 0 |
| Interauricular communication | 0 |
| JAG1 | 0 |
| JUP | 0 |
| Joubert syndrome | 0 |
| KCNA5 | 0 |
| KCNE1 | 0 |
| KCNE2 | 0 |
| KCNH2 | 0 |
| KCNJ1 | 0 |
| KCNJ10 | 0 |
| KCNJ2 | 0 |
| KCNQ1 | 0 |
| KCNQ4 | 0 |
| KCNV2 | 0 |
| KIF1B | 0 |
| KLHL7 | 0 |
| KRT14 | 0 |
| KRT5 | 0 |
| LAMA3 | 0 |
| LAMB3 | 0 |
| LAMC2 | 0 |
| LARGE | 0 |
| LAT2 | 0 |
| LCA5 | 0 |
| LDB3 | 0 |
| LEFTY2 | 0 |
| LHFPL5 | 0 |
| LIM2 | 0 |
| LIMK1 | 0 |
| LITAF | 0 |
| LMNA | 0 |
| LOX | 0 |
| LRAT | 0 |
| LRPPRC | 0 |
| LRTOMT | 0 |
| Leber amaurosis, congenital | 0 |
| Leber hereditary optic neuropathy | 0 |
| Leigh syndrome | 0 |
| Leucinosis | 0 |
| Leukemia, myeloid, acute | 0 |
| Long QT syndrome, familial | 0 |
| MAF | 0 |
| MAPK1 | 0 |
| MAPT | 0 |
| MARVELD2 | 0 |
| MATN3 | 0 |
| MED13L | 0 |
| MELAS syndrome | 0 |
| MERTK | 0 |
| MFN2 | 0 |
| MFRP | 0 |
| MIP | 0 |
| MKKS | 0 |
| MKS1 | 0 |
| MLH1 | 0 |
| MLH3 | 0 |
| MLXIPL | 0 |
| MMP13 | 0 |
| MPZ | 0 |
| MSH2 | 0 |
| MSH6 | 0 |
| MT-ATP6 | 0 |
| MT-ATP8 | 0 |
| MT-CO1 | 0 |
| MT-CO3 | 0 |
| MT-CYB | 0 |
| MT-ND1 | 0 |
| MT-ND2 | 0 |
| MT-ND3 | 0 |
| MT-ND4 | 0 |
| MT-ND4L | 0 |
| MT-ND5 | 0 |
| MT-ND6 | 0 |
| MYBPC3 | 0 |
| MYH11 | 0 |
| MYH14 | 0 |
| MYH6 | 0 |
| MYH7 | 0 |
| MYH9 | 0 |
| MYL2 | 0 |
| MYL3 | 0 |
| MYLK2 | 0 |
| MYO15A | 0 |
| MYO1A | 0 |
| MYO3A | 0 |
| MYO6 | 0 |
| MYO7A | 0 |
| Macular degeneration, age-related | 0 |
| Meckel syndrome | 0 |
| Medullary cystic kidney disease, autosomal recessive | 0 |
| Monosomy 22q11 | 0 |
| NADH-CoQ reductase deficiency | 0 |
| NDUFA1 | 0 |
| NDUFA11 | 0 |
| NDUFAF2 | 0 |
| NDUFAF3 | 0 |
| NDUFAF4 | 0 |
| NDUFS1 | 0 |
| NDUFS2 | 0 |
| NDUFS3 | 0 |
| NDUFS4 | 0 |
| NDUFS6 | 0 |
| NDUFS7 | 0 |
| NDUFS8 | 0 |
| NDUFV1 | 0 |
| NDUFV2 | 0 |
| NEFH | 0 |
| NEFL | 0 |
| NEK8 | 0 |
| NKX2-5 | 0 |
| NPHP1 | 0 |
| NPHP3 | 0 |
| NPHP4 | 0 |
| NPPA | 0 |
| NR1H3 | 0 |
| NR2E3 | 0 |
| NRL | 0 |
| NUP155 | 0 |
| NYX | 0 |
| Night blindness, stationary, congenital | 0 |
| Non-syndromic congenital cataract | 0 |
| Nonsyndromic genetic deafness | 0 |
| OFD1 | 0 |
| OLR1 | 0 |
| OTOA | 0 |
| OTOF | 0 |
| OTX2 | 0 |
| PAPSS2 | 0 |
| PC | 0 |
| PCDH15 | 0 |
| PDE6A | 0 |
| PDE6B | 0 |
| PDE6C | 0 |
| PDE6H | 0 |
| PDGFRL | 0 |
| PDHA1 | 0 |
| PDHB | 0 |
| PDHX | 0 |
| PIK3CA | 0 |
| PITX3 | 0 |
| PKP2 | 0 |
| PLEC1 | 0 |
| PLEKHG5 | 0 |
| PLN | 0 |
| PMP22 | 0 |
| PMS1 | 0 |
| PMS2 | 0 |
| POMGNT1 | 0 |
| POMT1 | 0 |
| POMT2 | 0 |
| POU3F4 | 0 |
| POU4F3 | 0 |
| PPP2R2B | 0 |
| PRCD | 0 |
| PRKAG2 | 0 |
| PRKCG | 0 |
| PROM1 | 0 |
| PRPF3 | 0 |
| PRPF31 | 0 |
| PRPF8 | 0 |
| PRPH | 0 |
| PRPH2 | 0 |
| PRX | 0 |
| PSEN1 | 0 |
| PSEN2 | 0 |
| Primary ciliary dyskinesia | 0 |
| Progressive cone dystrophy | 0 |
| Pyruvate dehydrogenase deficiency | 0 |
| RAB7A | 0 |
| RAX | 0 |
| RAX2 | 0 |
| RD3 | 0 |
| RDH12 | 0 |
| RDX | 0 |
| RFC2 | 0 |
| RGR | 0 |
| RHO | 0 |
| RIMS1 | 0 |
| RLBP1 | 0 |
| ROM1 | 0 |
| RP1 | 0 |
| RP2 | 0 |
| RP9 | 0 |
| RPE65 | 0 |
| RPGR | 0 |
| RPGRIP1 | 0 |
| RPGRIP1L | 0 |
| RSPH4A | 0 |
| RSPH9 | 0 |
| RYR2 | 0 |
| Retinitis pigmentosa | 0 |
| SCN4B | 0 |
| SCN5A | 0 |
| SCO1 | 0 |
| SCO2 | 0 |
| SDHA | 0 |
| SEMA4A | 0 |
| SETX | 0 |
| SGCD | 0 |
| SLC12A1 | 0 |
| SLC17A8 | 0 |
| SLC26A2 | 0 |
| SLC26A4 | 0 |
| SLC26A5 | 0 |
| SOD1 | 0 |
| SPATA7 | 0 |
| SPTBN2 | 0 |
| STRC | 0 |
| SURF1 | 0 |
| SYNE1 | 0 |
| SYNE2 | 0 |
| Senior-Loken syndrome | 0 |
| Situs ambiguus | 0 |
| Spondyloepimetaphyseal dysplasia | 0 |
| Spondyloepiphyseal dysplasia | 0 |
| Stickler syndrome | 0 |
| TACO1 | 0 |
| TARDBP | 0 |
| TAZ | 0 |
| TBL2 | 0 |
| TBP | 0 |
| TBX1 | 0 |
| TCAP | 0 |
| TECTA | 0 |
| TFB1M | 0 |
| TGFB3 | 0 |
| TGFBR1 | 0 |
| TGFBR2 | 0 |
| TMC1 | 0 |
| TMEM43 | 0 |
| TMEM67 | 0 |
| TMIE | 0 |
| TMPO | 0 |
| TMPRSS3 | 0 |
| TNNC1 | 0 |
| TNNI3 | 0 |
| TNNT2 | 0 |
| TOPORS | 0 |
| TPM1 | 0 |
| TRAPPC2 | 0 |
| TRIM32 | 0 |
| TRIOBP | 0 |
| TRMU | 0 |
| TTC8 | 0 |
| TTN | 0 |
| TULP1 | 0 |
| TXNDC3 | 0 |
| Tetralogy of Fallot | 0 |
| Thoracic aortic aneurysm, familial form | 0 |
| Transposition of the great arteries | 0 |
| Transposition of the great arteries, right | 0 |
| UFD1L | 0 |
| UQCRB | 0 |
| UQCRQ | 0 |
| USH1C | 0 |
| USH1G | 0 |
| USH2A | 0 |
| Usher syndrome | 0 |
| VAPB | 0 |
| VCL | 0 |
| VSX2 | 0 |
| WBSCR16 | 0 |
| WBSCR22 | 0 |
| WBSCR27 | 0 |
| WFS1 | 0 |
| WISP3 | 0 |
| Walker-Warburg syndrome | 0 |
| Williams syndrome | 0 |
| ZFPM2 | 0 |
| ZIC3 | 0 |
| DIRC1 | 1 |
| DIRC2 | 1 |
| EGLN1 | 1 |
| EPAS1 | 1 |
| EPOR | 1 |
| FHIT | 1 |
| HIF1A | 1 |
| HSPBAP1 | 1 |
| OGG1 | 1 |
| Primary familial polycythemia | 1 |
| RNF139 | 1 |
| Renal cell carcinoma, familial | 1 |
| VHL | 1 |
| Adrenoleukodystrophy, neonatal | 2 |
| HSD17B4 | 2 |
| PEX1 | 2 |
| PEX10 | 2 |
| PEX12 | 2 |
| PEX13 | 2 |
| PEX14 | 2 |
| PEX16 | 2 |
| PEX19 | 2 |
| PEX26 | 2 |
| PEX3 | 2 |
| PEX5 | 2 |
| PEX6 | 2 |
| PXMP3 | 2 |
| Refsum disease, infantile form | 2 |
| Zellweger syndrome | 2 |
| ACSL4 | 3 |
| AGTR2 | 3 |
| ARHGEF6 | 3 |
| ARX | 3 |
| Atypical Rett syndrome | 3 |
| BRWD3 | 3 |
| CC2D1A | 3 |
| CDH15 | 3 |
| CDKL5 | 3 |
| CRBN | 3 |
| DLG3 | 3 |
| FG syndrome | 3 |
| FLNA | 3 |
| FOXG1 | 3 |
| FTSJ1 | 3 |
| GDI1 | 3 |
| IL1RAPL1 | 3 |
| KIRREL3 | 3 |
| MECP2 | 3 |
| MED12 | 3 |
| NTNG1 | 3 |
| PAK3 | 3 |
| PRSS12 | 3 |
| RPS6KA3 | 3 |
| Rare intellectual deficit without developmental anomaly | 3 |
| SYNGAP1 | 3 |
| TSPAN7 | 3 |
| TUSC3 | 3 |
| UPF3B | 3 |
| ZNF41 | 3 |
| ZNF674 | 3 |
| ZNF81 | 3 |
| ACE | 4 |
| AGT | 4 |
| AGTR1 | 4 |
| REN | 4 |
| Renal tubular dysgenesis | 4 |
| ACTA1 | 5 |
| CFL2 | 5 |
| MYH3 | 5 |
| Mild nemaline myopathy | 5 |
| NEB | 5 |
| Nemaline myopathy | 5 |
| Sheldon-Hall syndrome | 5 |
| TNNI2 | 5 |
| TNNT1 | 5 |
| TNNT3 | 5 |
| TPM2 | 5 |
| TPM3 | 5 |
| Beckwith-Wiedemann syndrome | 6 |
| CDKN1C | 6 |
| COPG2 | 6 |
| CPA4 | 6 |
| GRB10 | 6 |
| IGF2 | 6 |
| MEST | 6 |
| NSD1 | 6 |
| SLC22A18 | 6 |
| Silver-Russell syndrome | 6 |
| ANK1 | 7 |
| EPB42 | 7 |
| SLC4A1 | 7 |
| SPTA1 | 7 |
| SPTB | 7 |
| Spherocytosis hereditary | 7 |
| BMP4 | 8 |
| Cleft lip with or without cleft palate | 8 |
| FBXW4 | 8 |
| IRF6 | 8 |
| PVRL1 | 8 |
| SHFM1 | 8 |
| SUMO1 | 8 |
| Split hand - split foot | 8 |
| TGFA | 8 |
| TP63 | 8 |
| WNT10B | 8 |
| HLA-DRB1 | 9 |
| LOC100294161 | 9 |
| LOC100294189 | 9 |
| LOC100294468 | 9 |
| Sarcoidosis | 9 |
| CLINT1 | 10 |
| DISC1 | 10 |
| FXYD6 | 10 |
| PRODH | 10 |
| RGS4 | 10 |
| Schizophrenia | 10 |
| C10orf2 | 11 |
| DGUOK | 11 |
| MPV17 | 11 |
| Mitochondrial DNA depletion syndrome | 11 |
| POLG | 11 |
| POLG2 | 11 |
| Progressive external ophthalmoplegia | 11 |
| SLC25A4 | 11 |
| TK2 | 11 |
| TYMP | 11 |
| ASPM | 12 |
| BARD1 | 12 |
| BRCA1 | 12 |
| BRCA2 | 12 |
| BRIP1 | 12 |
| Breast cancer, familial | 12 |
| CDK5RAP2 | 12 |
| CENPJ | 12 |
| CHEK2 | 12 |
| CYP11A1 | 12 |
| CYP11B1 | 12 |
| CYP17A1 | 12 |
| CYP21A2 | 12 |
| Congenital adrenal hyperplasia | 12 |
| ELAC2 | 12 |
| EPHB2 | 12 |
| FANCA | 12 |
| FANCB | 12 |
| FANCC | 12 |
| FANCD2 | 12 |
| FANCE | 12 |
| FANCF | 12 |
| FANCG | 12 |
| FANCI | 12 |
| FANCL | 12 |
| FANCM | 12 |
| Fanconi anemia | 12 |
| HLF | 12 |
| HNF1B | 12 |
| HSD17B3 | 12 |
| HSD3B2 | 12 |
| ING1 | 12 |
| ING3 | 12 |
| LMO1 | 12 |
| LYL1 | 12 |
| Leukemia, lymphoblastic, acute | 12 |
| MCPH1 | 12 |
| MLL | 12 |
| MXI1 | 12 |
| Microcephaly, isolated congenital | 12 |
| PALB2 | 12 |
| PBX1 | 12 |
| PDGFRA | 12 |
| PTEN | 12 |
| Prostate cancer, familial | 12 |
| RAD51 | 12 |
| RNASEL | 12 |
| SRD5A2 | 12 |
| STIL | 12 |
| Squamous cell carcinoma of head and neck | 12 |
| TAL1 | 12 |
| TAL2 | 12 |
| TCF3 | 12 |
| TLX1 | 12 |
| TNFRSF10B | 12 |
| BMP15 | 13 |
| DIAPH2 | 13 |
| FMR1 | 13 |
| FOXL2 | 13 |
| FSHR | 13 |
| NOBOX | 13 |
| POF1B | 13 |
| Premature ovarian failure | 13 |
| MAGEL2 | 14 |
| NDN | 14 |
| OCA2 | 14 |
| Oculocutaneous albinism | 14 |
| Prader-Willi syndrome | 14 |
| SLC45A2 | 14 |
| SNRPN | 14 |
| TYR | 14 |
| TYRP1 | 14 |
| CSF2RA | 15 |
| CSF2RB | 15 |
| Pulmonary alveolar proteinosis | 15 |
| SFTPB | 15 |
| SFTPC | 15 |
| NR3C2 | 16 |
| Pseudohypoaldosteronism, type 1 | 16 |
| SCNN1A | 16 |
| SCNN1B | 16 |
| SCNN1G | 16 |
| COFS syndrome | 17 |
| DDB2 | 17 |
| ERCC1 | 17 |
| ERCC2 | 17 |
| ERCC3 | 17 |
| ERCC4 | 17 |
| ERCC5 | 17 |
| ERCC6 | 17 |
| POLH | 17 |
| XPA | 17 |
| XPC | 17 |
| Xeroderma pigmentosum | 17 |
| ALK | 18 |
| ASCL1 | 18 |
| BDNF | 18 |
| CCDC6 | 18 |
| ECE1 | 18 |
| EDN3 | 18 |
| EDNRB | 18 |
| ERC1 | 18 |
| GDNF | 18 |
| GOLGA5 | 18 |
| Hirschsprung disease | 18 |
| L1CAM | 18 |
| MYCN | 18 |
| NCOA4 | 18 |
| NME1 | 18 |
| NRTN | 18 |
| Neuroblastoma | 18 |
| Ondine syndrome | 18 |
| PCM1 | 18 |
| PHOX2B | 18 |
| RET | 18 |
| TFG | 18 |
| TPR | 18 |
| TRIM24 | 18 |
| TRIM27 | 18 |
| TRIM33 | 18 |
| Thyroid carcinoma, papillary or follicular | 18 |
| SS18 | 19 |
| SSX1 | 19 |
| SSX2 | 19 |
| SSX2B | 19 |
| SSX2IP | 19 |
| Synovialosarcoma | 19 |
| Encephalopathy due to sulfite oxidase deficiency | 20 |
| GLRA1 | 20 |
| GLRB | 20 |
| GPHN | 20 |
| Hyperekplexia, hereditary | 20 |
| MOCOS | 20 |
| MOCS1 | 20 |
| MOCS2 | 20 |
| SLC6A5 | 20 |
| SUOX | 20 |
| XDH | 20 |
| Xanthinuria | 20 |
| CYP27B1 | 21 |
| CYP2R1 | 21 |
| Calcinosis, tumoral | 21 |
| DMP1 | 21 |
| FGF23 | 21 |
| GALNT3 | 21 |
| KL | 21 |
| PHEX | 21 |
| SAMD9 | 21 |
| SLC34A3 | 21 |
| VDR | 21 |
| Vitamin D resistant rickets | 21 |
| Leukemia, promyelocytic, acute | 22 |
| NPM1 | 22 |
| PML | 22 |
| RARA | 22 |
| ZBTB16 | 22 |
| CLN3 | 23 |
| CLN5 | 23 |
| CLN6 | 23 |
| CLN8 | 23 |
| CTSD | 23 |
| Late infantile neuronal ceroid lipofuscinosis | 23 |
| MFSD8 | 23 |
| Neuronal ceroid lipofuscinosis | 23 |
| PPT1 | 23 |
| TPP1 | 23 |
| CHD7 | 24 |
| FGF8 | 24 |
| FGFR1 | 24 |
| GNRH1 | 24 |
| GNRHR | 24 |
| KAL1 | 24 |
| KISS1R | 24 |
| Kallmann syndrome | 24 |
| NELF | 24 |
| Normosmic congenital hypogonadotropic hypogonadism | 24 |
| PROK2 | 24 |
| PROKR2 | 24 |
| TAC3 | 24 |
| TACR3 | 24 |
| ABCC8 | 25 |
| CEL | 25 |
| Diabetes mellitus, neonatal | 25 |
| Diabetes mellitus, neonatal, permanent | 25 |
| GCK | 25 |
| HADH | 25 |
| HNF1A | 25 |
| HNF4A | 25 |
| INS | 25 |
| INSR | 25 |
| KCNJ11 | 25 |
| KLF11 | 25 |
| MODY syndrome | 25 |
| NEUROD1 | 25 |
| PAX4 | 25 |
| PDX1 | 25 |
| PTF1A | 25 |
| Persistent hyperinsulinemic hypoglycemia of infancy | 25 |
| SLC16A1 | 25 |
| ZFP57 | 25 |
| CHAT | 26 |
| CHRNA1 | 26 |
| CHRNB1 | 26 |
| CHRND | 26 |
| CHRNE | 26 |
| CHRNG | 26 |
| COLQ | 26 |
| Congenital myasthenic syndromes | 26 |
| DOK7 | 26 |
| LAMB2 | 26 |
| MUSK | 26 |
| Multiple pterygium syndrome, lethal form | 26 |
| Postsynaptic congenital myasthenic syndromes | 26 |
| RAPSN | 26 |
| SCN4A | 26 |
| GNS | 27 |
| HGSNAT | 27 |
| Mucopolysaccharidosis type 3 | 27 |
| NAGLU | 27 |
| SGSH | 27 |
| KRT81 | 28 |
| KRT83 | 28 |
| KRT86 | 28 |
| LOC100293351 | 28 |
| Monilethrix | 28 |
| BCL10 | 29 |
| BIRC3 | 29 |
| FOXP1 | 29 |
| MALT lymphoma | 29 |
| MALT1 | 29 |
| APOA5 | 30 |
| APOC2 | 30 |
| GPIHBP1 | 30 |
| LIPI | 30 |
| LPL | 30 |
| Major hypertriglyceridemia | 30 |
| IFNGR1 | 31 |
| IFNGR2 | 31 |
| IL12B | 31 |
| IL12RB1 | 31 |
| Mendelian susceptibility to atypical mycobacteria | 31 |
| STAT1 | 31 |
| APC | 32 |
| CTNNB1 | 32 |
| Medulloblastoma | 32 |
| PTCH2 | 32 |
| SUFU | 32 |
| BRAF | 33 |
| CDKN2A | 33 |
| Cardiofaciocutaneous syndrome | 33 |
| DMBT1 | 33 |
| EGFR | 33 |
| GLI1 | 33 |
| GLTSCR1 | 33 |
| GLTSCR2 | 33 |
| Glioblastoma | 33 |
| KRAS | 33 |
| LRRN2 | 33 |
| MANF | 33 |
| MAP2K1 | 33 |
| MAP2K2 | 33 |
| Noonan syndrome | 33 |
| PTPN11 | 33 |
| Pancreatic carcinoma, familial | 33 |
| RAF1 | 33 |
| SMAD4 | 33 |
| SOS1 | 33 |
| TP53 | 33 |
| YEATS4 | 33 |
| MTHFD1 | 34 |
| MTHFR | 34 |
| MTR | 34 |
| Neural tube defect | 34 |
| T | 34 |
| VANGL1 | 34 |
| HESX1 | 35 |
| LHX3 | 35 |
| Nonacquired combined pituitary hormone deficiency | 35 |
| POU1F1 | 35 |
| PROP1 | 35 |
| GJC2 | 36 |
| HSPD1 | 36 |
| PLP1 | 36 |
| Pelizaeus-Merzbacher disease | 36 |
| SLC16A2 | 36 |
| ATP13A2 | 37 |
| GIGYF2 | 37 |
| HTRA2 | 37 |
| LRRK2 | 37 |
| NR4A2 | 37 |
| PACRG | 37 |
| PARK2 | 37 |
| PARK7 | 37 |
| PINK1 | 37 |
| Parkinson disease, genetic type | 37 |
| SNCA | 37 |
| UCHL1 | 37 |
| CYP1B1 | 38 |
| FOXC1 | 38 |
| Glaucoma, congenital | 38 |
| Glaucoma, hereditary | 38 |
| HDAC9 | 38 |
| LTBP2 | 38 |
| MYOC | 38 |
| OPTN | 38 |
| PAX6 | 38 |
| PITX2 | 38 |
| Peters anomaly | 38 |
| TGFB2 | 38 |
| WDR36 | 38 |
| Pontocerebellar hypoplasia | 39 |
| RARS2 | 39 |
| TSEN2 | 39 |
| TSEN34 | 39 |
| TSEN54 | 39 |
| GPR56 | 40 |
| NHEJ1 | 40 |
| Polymicrogyria | 40 |
| SRPX2 | 40 |
| TUBB2B | 40 |
| ALAS2 | 41 |
| FECH | 41 |
| HAMP | 41 |
| HFE | 41 |
| HFE2 | 41 |
| Hemochromatosis | 41 |
| Porphyria | 41 |
| TFR2 | 41 |
| UROD | 41 |
| UROS | 41 |
| DCLRE1C | 42 |
| LIG4 | 42 |
| Omenn syndrome | 42 |
| RAG1 | 42 |
| RAG2 | 42 |
| KRT16 | 43 |
| KRT17 | 43 |
| KRT6A | 43 |
| KRT6B | 43 |
| Pachyonychia congenita | 43 |
| COL1A1 | 44 |
| COL1A2 | 44 |
| COL3A1 | 44 |
| COL5A1 | 44 |
| COL5A2 | 44 |
| CRTAP | 44 |
| Classic Ehlers-Danlos syndrome | 44 |
| LEPRE1 | 44 |
| Osteogenesis imperfecta | 44 |
| TNXB | 44 |
| DKC1 | 45 |
| Dyskeratosis congenita | 45 |
| IFNG | 45 |
| Idiopathic aplastic anemia | 45 |
| NHP2 | 45 |
| NOP10 | 45 |
| PRF1 | 45 |
| SBDS | 45 |
| TERT | 45 |
| TINF2 | 45 |
| Crohn disease | 46 |
| IL10 | 46 |
| IL23R | 46 |
| NOD2 | 46 |
| SLC22A4 | 46 |
| Crigler-Najjar syndrome | 47 |
| Gilbert syndrome | 47 |
| Hyperbilirubinemia transient familial neonatal | 47 |
| UGT1A1 | 47 |
| UGT1A10 | 47 |
| UGT1A3 | 47 |
| UGT1A4 | 47 |
| UGT1A5 | 47 |
| UGT1A6 | 47 |
| UGT1A7 | 47 |
| UGT1A8 | 47 |
| UGT1A9 | 47 |
| GABRD | 48 |
| GABRG2 | 48 |
| Generalized epilepsy with febrile seizures-plus context | 48 |
| SCN1A | 48 |
| SCN1B | 48 |
| SCN2A | 48 |
| ERG | 49 |
| ETV1 | 49 |
| EWSR1 | 49 |
| Ewing sarcoma | 49 |
| FLI1 | 49 |
| NR4A3 | 49 |
| ABCA12 | 50 |
| ABHD5 | 50 |
| ALOX12B | 50 |
| ALOXE3 | 50 |
| CYP4F22 | 50 |
| Erythroderma, congenital ichthyosiform, nonbullous | 50 |
| Ichthyosis, lamellar | 50 |
| KRT1 | 50 |
| KRT10 | 50 |
| TGM1 | 50 |
| FOXH1 | 51 |
| GLI2 | 51 |
| Holoprosencephaly | 51 |
| PTCH1 | 51 |
| SHH | 51 |
| SIX3 | 51 |
| TDGF1 | 51 |
| TGIF1 | 51 |
| ZIC2 | 51 |
| ABCG5 | 52 |
| ABCG8 | 52 |
| APOB | 52 |
| Hypercholesterolemia, familial | 52 |
| LDLR | 52 |
| LDLRAP1 | 52 |
| PCSK9 | 52 |
| SREBF2 | 52 |
| Hereditary pheochromocytoma-paraganglioma syndrome | 53 |
| SDHAF2 | 53 |
| SDHB | 53 |
| SDHC | 53 |
| SDHD | 53 |
| BLOC1S3 | 54 |
| DTNBP1 | 54 |
| HPS1 | 54 |
| HPS3 | 54 |
| HPS4 | 54 |
| HPS5 | 54 |
| HPS6 | 54 |
| Hermansky-Pudlak syndrome | 54 |
| CYBA | 55 |
| CYBB | 55 |
| Granulomatous disease, chronic | 55 |
| NCF1 | 55 |
| NCF2 | 55 |
| NCF4 | 55 |
| CFTR | 56 |
| CTRC | 56 |
| Hereditary chronic pancreatitis | 56 |
| PRSS1 | 56 |
| PRSS2 | 56 |
| REG1A | 56 |
| SPINK1 | 56 |
| ETFA | 57 |
| ETFB | 57 |
| ETFDH | 57 |
| GCDH | 57 |
| Glutaryl-CoA dehydrogenase deficiency | 57 |
| DHH | 58 |
| DMRT1 | 58 |
| DMRT2 | 58 |
| Gonadal dysgenesis, XY female type | 58 |
| NR0B1 | 58 |
| NR5A1 | 58 |
| SRY | 58 |
| ABCD1 | 59 |
| AMN | 59 |
| CUBN | 59 |
| DHFR | 59 |
| Graesbeck-Imerslund disease | 59 |
| Atypical hemolytic uremic syndrome | 60 |
| C2 | 60 |
| C3 | 60 |
| C4A | 60 |
| C4B | 60 |
| C5 | 60 |
| C6 | 60 |
| C7 | 60 |
| C8A | 60 |
| C8B | 60 |
| C8G | 60 |
| C9 | 60 |
| CD46 | 60 |
| CFH | 60 |
| CFI | 60 |
| Immunodeficiency with a complement cascade protein anomaly | 60 |
| SERPING1 | 60 |
| CACNB4 | 61 |
| EFHC1 | 61 |
| GABRA1 | 61 |
| JRK | 61 |
| Juvenile myoclonic epilepsy | 61 |
| KCNQ3 | 61 |
| CIITA | 62 |
| Immunodeficiency by defective expression of HLA class 2 | 62 |
| RFX5 | 62 |
| RFXANK | 62 |
| RFXAP | 62 |
| TAP2 | 62 |
| Iminoglycinuria | 63 |
| SLC36A2 | 63 |
| SLC6A18 | 63 |
| SLC6A19 | 63 |
| SLC6A20 | 63 |
| DUOX2 | 64 |
| DUOXA2 | 64 |
| Hypothyroidism, congenital | 64 |
| IYD | 64 |
| NKX2-1 | 64 |
| PAX8 | 64 |
| SLC5A5 | 64 |
| TPO | 64 |
| TRH | 64 |
| TSHB | 64 |
| TSHR | 64 |
| AICDA | 65 |
| CD40 | 65 |
| Hyper-IgM syndrome | 65 |
| IKBKG | 65 |
| UNG | 65 |
| AXIN2 | 66 |
| EDA | 66 |
| Hypodontia | 66 |
| MSX1 | 66 |
| PAX9 | 66 |
| WNT10A | 66 |
| AUTS2 | 67 |
| Autism | 67 |
| EN2 | 67 |
| GABRB3 | 67 |
| MET | 67 |
| NLGN3 | 67 |
| NLGN4X | 67 |
| NRXN1 | 67 |
| RPL10 | 67 |
| Autosomal dominant centronuclear myopathy | 68 |
| BIN1 | 68 |
| Centronuclear myopathy | 68 |
| DNM2 | 68 |
| MAMLD1 | 68 |
| MTM1 | 68 |
| MTMR14 | 68 |
| MYF6 | 68 |
| RYR1 | 68 |
| Autoimmune lymphoproliferative syndrome | 69 |
| CASP10 | 69 |
| CASP8 | 69 |
| FAS | 69 |
| FASLG | 69 |
| Autosomal recessive spondylocostal dysostosis | 70 |
| DLL3 | 70 |
| HES7 | 70 |
| LFNG | 70 |
| MESP2 | 70 |
| Autosomal recessive malignant osteopetrosis | 71 |
| CLCN7 | 71 |
| OSTM1 | 71 |
| TCIRG1 | 71 |
| TNFRSF11A | 71 |
| TNFSF11 | 71 |
| AKR1D1 | 72 |
| AMACR | 72 |
| Bile acid synthesis defect with cholestasis and malabsorption | 72 |
| CYP7B1 | 72 |
| HSD3B7 | 72 |
| Blackfan-Diamond disease | 73 |
| RPL11 | 73 |
| RPL35A | 73 |
| RPL5 | 73 |
| RPS17 | 73 |
| RPS19 | 73 |
| RPS24 | 73 |
| RPS7 | 73 |
| CACH syndrome | 74 |
| Congenital or early infantile CACH syndrome | 74 |
| Cree leukoencephalopathy | 74 |
| EIF2B1 | 74 |
| EIF2B2 | 74 |
| EIF2B3 | 74 |
| EIF2B4 | 74 |
| EIF2B5 | 74 |
| Juvenile or adult CACH syndrome | 74 |
| Late infantile CACH syndrome | 74 |
| Ovarioleukodystrophy | 74 |
| BMPR1B | 75 |
| Brachydactyly | 75 |
| GDF5 | 75 |
| HOXD13 | 75 |
| IHH | 75 |
| ROR2 | 75 |
| Chromosome Y deletion | 76 |
| DAZ1 | 76 |
| DAZ2 | 76 |
| DAZ3 | 76 |
| DAZ4 | 76 |
| DDX3Y | 76 |
| RBMY1A1 | 76 |
| USP9Y | 76 |
| CHST6 | 77 |
| COL8A2 | 77 |
| Corneal dystrophy | 77 |
| DCN | 77 |
| KRT12 | 77 |
| KRT3 | 77 |
| PIKFYVE | 77 |
| SLC4A11 | 77 |
| TACSTD2 | 77 |
| TGFBI | 77 |
| VSX1 | 77 |
| ZEB1 | 77 |
| APOA1 | 78 |
| APOA2 | 78 |
| Amyloid nephropathy, familial | 78 |
| Amyloidosis | 78 |
| CST3 | 78 |
| FGA | 78 |
| GSN | 78 |
| IGHG1 | 78 |
| LYZ | 78 |
| TTR | 78 |
| AMELX | 79 |
| Amelogenesis imperfecta | 79 |
| DLX3 | 79 |
| ENAM | 79 |
| FAM83H | 79 |
| KLK4 | 79 |
| MMP20 | 79 |
| Aicardi-Goutieres syndrome | 80 |
| RNASEH2A | 80 |
| RNASEH2B | 80 |
| RNASEH2C | 80 |
| SAMHD1 | 80 |
| TREX1 | 80 |