All diseases

6 entries on 1 page. Showing entries 1 - 6.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
00606 - mitochondrial respiratory chain complex II deficiency 252011 - 0 0 SDHA, SDHAF1, SDHD - -
00607 CMD-1GG cardiomyopathy, dilated, type 1GG (CMD-1GG) 613642 - 0 0 SDHA - -
00139 ID intellectual disability (ID) - - 1787 1520 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 535 more - -
00038 LS syndrome, Leigh (LS) 256000 - 66 57 BCS1L, C17orf89, COX10, COX15, FOXRED1, NDUFA10, NDUFA12, NDUFA2, NDUFA9, NDUFAF2, NDUFAF6, NDUFS3, NDUFS4, NDUFS7, NDUFS8, SDHA, SURF1 - -
02382 PGL-2 paragangliomas, type 2 (PGL-2) 601650 - 0 0 SDHAF2 - -
00608 PGL-5 paragangliomas, type 5 (PGL-5) 614165 - 0 0 SDHA - -
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