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
02659 - Hurthle cell carcinoma of thyroid 607464 - - - NDUFA13 - -
00139 ID intellectual disability (ID) - - 2694 2376 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 553 more - -
00038 LS Leigh syndrome (LS) 256000 AR;Mi 72 62 BCS1L, C17orf89, COX10, COX15, FASTKD5, FOXRED1, NDUFA12, NDUFA2, NDUFA9, NDUFAF2, NDUFAF6, NDUFS3, NDUFS4, NDUFS7, NDUFS8, SDHA, SURF1 - -
00611 MC1DN mitochondrial complex I deficiency, nuclear (MC1DN) 252010 AR 31 29 ACAD9, FOXRED1, NDUFA1, NDUFA11, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFV1, NDUFV2, NUBPL, TIMMDC1 - -
06860 MC1DN12 Mi complex I deficiency, nuclear type 12 301020 XLR - - NDUFA1 - -
06433 MC1DN14 Mi complex I deficiency, nuclear type 14 618236 AR - - NDUFA11 - -
06478 MC1DN22 Mi complex I deficiency, nuclear type 22 618243 AR - - NDUFA10 - -
06193 MC1DN23 ?Mi complex I deficiency, nuclear type 23 618244 AR - - NDUFA12 - -
06434 MC1DN28 ?Mi complex I deficiency, nuclear type 28 618249 AR - - NDUFA13 - -
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