All diseases

4 entries on 1 page. Showing entries 1 - 4.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
00946 - cardiomyopathy, hypertrophic, early-onset fatal - - 1 1 COX15 - -
03834 CEMCOX-2 cardioencephalomyopathy, fatal infantile, due to cytochrome C oxidase deficiency, type 2 (CEMCOX-2) 615119 - 0 0 COX15 - -
00139 ID intellectual disability (ID) - - 936 815 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 519 more - -
00038 LS syndrome, Leigh (LS) 256000 - 52 47 BCS1L, COX10, COX15, FOXRED1, NDUFA10, NDUFA12, NDUFA2, NDUFA9, NDUFAF2, NDUFAF6, NDUFS3, NDUFS4, NDUFS7, NDUFS8, SDHA, SURF1 - -
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