All diseases

20 entries on 1 page. Showing entries 1 - 20.
Legend   How to query  

ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
00315 cancer, bladder cancer, bladder 109800 - 63 63 FGFR3, HRAS, KRAS, RB1 - -
00683 cancer, breast cancer, breast, susceptibility 114480 - 8104 787 AKT1, ATM, BARD1, BRCA1, BRCA2, BRIP1, CASP8, CDH1, CHEK2, ESR1, HMMR, KRAS, NQO2, PALB2, PHB, PIK3CA, PPM1D, RAD51, RAD54L, RB1CC1, 4 more - -
06621 EIEE45 Epileptic encephalopathy, early infantile, 45 617153 AD - - GABRB1 - -
00503 FNSS sleep, short, natural, familial - - 2 2 ADRB1, BHLHE41, NPSR1 - -
05671 FNSS2 sleep, short, natural, familial, type 2 (FNSS2) 618591 AD - - ADRB1 - -
02979 HDLCQ6 HDL cholesterol level, quantitative trait locus 6 (HDLCQ-6) 610762 - - - SCARB1 - -
04501 HLADRB1 major histocompatibility complex, class II, DR beta-1 (HLA-DRB1) 142857 AD - - HLA-DRB1 - -
04516 IMD30 immunodeficiency, type 30 (IMD-30) 614891 AR 179 172 IL12RB1 - -
03456 LCA8 Leber congenital amaurosis, type 8 613835 AR - - CRB1 - -
01288 MS multiple sclerosis susceptibility to (MS) 126200 Mu - - HLA-DQB1, HLA-DRB1, PDCD1 - -
05611 NDD neurodevelopmental disorder (NDD) - - 3538 3353 ACBD6, ADARB1, AP1G1, ARFGEF1, ATP9A, CAMSAP1, CAPRIN1, CASP2, CHASERR, CPSF3L, DDB1, DENND5B, DHX30, DHX9, DOHH, DOT1L, EEFSEC, EIF2C1, EIF2C2, EIF4A2, 71 more - -
05960 NEDHYMS neurodevelopmental disorder with hypotonia, microcephaly, and seizures (NEDHYMS) 618862 AR - - ADARB1 - -
01989 OSTEOSARCOMA osteosarcoma 259500 SMu 1 1 CHEK2, RB1, TP53 - -
01507 PPCRA atrophy, chorioretinal, pigmented paravenous (PPCRA) 172870 AD 5 5 CRB1 - -
01546 RA arthritis, rheumatoid (RA) 180300 - - - CD244, CIITA, HLA-DRB1, IL10, NFKBIL1, PADI4, PTPN22, SLC22A4 - -
01544 RB1 retinoblastoma, type 1 180200 AD;SMu 67 66 RB1 - -
02644 RHR resting heart rate, variation 607276 - - - ADRB1 - -
02286 RP12 retinitis pigmentosa, with/without PPRPE, type 12 600105 AR 12 12 CRB1 - -
01558 SCLC1 cancer, lung, small cell (SCLS) 182280 - - - RB1 - -
01550 SS1 sarcoidosis, susceptibility to, type 1 (SS-1) 181000 AD - - HLA-DRB1 - -
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.