All diseases

17 entries on 1 page. Showing entries 1 - 17.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
00683 - cancer, breast, familial 114480 - 8011 749 AKT1, ATM, BARD1, BRCA1, BRCA2, BRIP1, CASP8, CDH1, CHEK2, ESR1, HMMR, KRAS, NQO2, PALB2, PHB, PIK3CA, PPM1D, RAD51, RAD54L, RB1CC1, 4 more - -
01989 - osteosarcoma 259500 - 1 1 CHEK2, RB1, TP53 - -
02644 - Resting heart rate 607276 - 0 0 ADRB1 - -
00315 cancer, bladder cancer, bladder 109800 - 60 60 FGFR3, HRAS, KRAS, RB1 - -
00503 FNSS sleep, short, natural, familial - - 2 2 ADRB1, BHLHE41, NPSR1 - -
05671 FNSS2 sleep, short, natural, familial, type 2 (FNSS2) 618591 AD 0 0 ADRB1 - -
02979 HDLCQ-6 HDL cholesterol level, quantitative trait locus 6 (HDLCQ-6) 610762 - 0 0 SCARB1 - -
04501 HLA-DRB1 major histocompatibility complex, class II, DR beta-1 (HLA-DRB1) 142857 - 0 0 HLA-DRB1 - -
04516 IMD-30 immunodeficiency, type 30 (IMD-30) 614891 - 179 172 IL12RB1 - -
03456 LCA-8 Leber congenital amaurosis, type 8 (LCA-8) 613835 - 0 0 CRB1 - -
01288 MS multiple sclerosis susceptibility to (MS) 126200 - 0 0 HLA-DQB1, HLA-DRB1, PDCD1 - -
01507 PPCRA atrophy, chorioretinal, pigmented paravenous (PPCRA) 172870 - 5 5 CRB1 - -
01546 RA arthritis, rheumatoid (RA) 180300 - 0 0 CD244, CIITA, HLA-DRB1, IL10, NFKBIL1, PADI4, PTPN22, SLC22A4 - -
01544 RB-1 retinoblastoma (RB-1) 180200 - 8 7 RB1 - -
02286 RP-12 retinitis pigmentosa, with/without PPRPE, type 12 (RP-12) 600105 - 11 11 CRB1 - -
01558 SCLC cancer, lung, small cell (SCLS) 182280 - 0 0 RB1 - -
01550 SS-1 sarcoidosis, susceptibility to, type 1 (SS-1) 181000 - 0 0 HLA-DRB1 - -
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