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
05458 DFN deafness, nonsyndromic (DFN) - - 50 45 CDC14A, CDH23, CEACAM16, FAM65B, MYO15A, MYO6, MYO7A, OTOF, OTOG, PCDH15, PDZD7, TECTA, TMC1, USH1C - -
05400 DFNB deafness, autosomal recessive (DFNB) - - 977 973 CDH23, CIB2, FAM65B, GIPC3, GRXCR1, HGF, MYO15A, MYO7A, OTOF, OTOG, PCDH15, RDX, S1PR2, SERPINB6, STRC, TMC1, USH1C - autosomal recessive
02858 DFNB23 deafness, autosomal recessive, type 23 (DFNB-23) 609533 AR 1 1 PCDH15 - -
06650 DMJDS1 dysplasia, diencephalic-mesencephalic junction, syndrome 1 251280 AR - - PCDH12 - -
02142 EIEE9 encephalopathy, epileptic, early infantile, type 9 (EIEE-9) 300088 XL 42 8 PCDH19 - early infantile epileptic encephalopathy, also known as epilepsy and mental retardation restricted to females (EFMR)
00139 ID intellectual disability (ID) - - 2799 2480 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 556 more - -
05415 USH Usher syndrome (USH) - - 457 455 ARSG, CDH23, CIB2, CLRN1, GPR98, MYO7A, PCDH15, USH1C, USH1G, USH2A - -
02115 USH1 Usher syndrome, type I (USH-1) - - 644 645 CDH23, MYO7A, PCDH15, USH1C, USH1G - -
02413 USH1F Usher syndrome, type 1F (USH-1F) 602083 AR 3 3 PCDH15 - -
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