614296 | WOLFRAM-LIKE SYNDROME, AUTOSOMAL DOMINANT | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | WFS1 |
222300 | WOLFRAM SYNDROME 1 | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | WFS1 |
125853 | DIABETES MELLITUS, NONINSULIN-DEPENDENT | OMIM | link to OMIM | 33 | SLC2A2, HNF4A, TCF7L2, SLC30A8, GPD2, PAX4, PTPN1, SLC2A4, ABCC8, HMGA1, LIPC, NEUROD1, CDKAL1, WFS1, PPARG, RETN, AKT2, IRS2, IL6, IRS1, GCGR, CAPN10, IGF2BP2, INSR, PDX1, MTNR1B, GCK, HNF1B, HNF1A, MAPK8IP1, ENPP1, PPP1R3A, KCNJ11 |
PS116200 | CATARACT | ClinVar, OMIM, HUMSAVAR | link to OMIM | 33 | GCNT2, CRYGD, VIM, CRYBB2, PITX3, UNC45B, BFSP1, GJA8, MAF, AGK, EPHA2, CRYBB3, MIP, CRYBA2, CRYGS, CRYBB1, FYCO1, SIPA1L3, CRYAB, GJA3, BFSP2, TDRD7, HSF4, CHMP4B, CRYAA, LIM2, WFS1, CRYBA4, LSS, CRYBA1, CRYGB, CRYGC, NHS |
PS124900 | DEAFNESS, AUTOSOMAL DOMINANT | ClinVar, OMIM, HUMSAVAR | link to OMIM | 33 | GJB2, DIAPH1, DFNA5, CEACAM16, CRYM, CCDC50, GJB3, KCNQ4, POU4F3, SLC17A8, MYO1A, TBC1D24, MYO7A, COL11A2, MIR96, GJB6, OSBPL2, TMC1, MYO6, P2RX2, EYA4, ACTG1, HOMER2, SIX1, WFS1, KITLG, DIABLO, COCH, TECTA, GRHL2, MYH14, TNC, MYH9 |