All diseases

9 entries on 1 page. Showing entries 1 - 9.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
01221 cancer, liver cancer, hepatocellular (HCC) 114550 - 4 4 APC, AXIN1, CASP8, CTNNB1, IGF2R, MET, PDGFRL, PIK3CA, TP53 liver -
05994 DFNB26M ?{Deafness, autosomal recessive 26, modifier of} 605429 AD - - METTL13 - -
05270 DFNB97 deafness, autosomal recessive, type 97 (DFNB-97) 616705 AR - - MET - -
00139 ID intellectual disability (ID) - - 2695 2377 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 553 more - -
04147 MRT mental retardation, autosomal recessive (MRT, intellectual disability (IDT)) - - 24 24 ELP2, LINGO1, LINS, MBOAT7, METTL5, PGAP1 - autosomal recessive
04141 MRT44 mental retardation, autosomal recessive, type 44 (MRT-44) 615942 AR - - METTL23 - -
05982 MRT72 intellectual developmental disorder, autosomal recessive, type 12 (MRT72) 618665 AR - - METTL5 - -
05269 OSFD dysplasia, osteofibrous, susceptibility to (OSFD) 607278 AD - - MET - -
02532 RCCP1 carcinoma, renal cell, papillary, type 1 (RCCP-1) 605074 - 1 1 MET, PRCC - -
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