All diseases

14 entries on 1 page. Showing entries 1 - 14.
Legend   How to query  

ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
02901 - Giant axonal neuropathy, autosomal dominant 610100 - 0 0 DCAF8 - -
03779 - CD11C+/CD1C+ dendritic cell deficiency, autosomal dominant 614893 - 0 0 IRF8 - -
00855 CRPT-2 Carpenter syndrome, type 2 (CRPT-2) 614976 - 0 0 MEGF8 - -
00495 HEMA hemophilia A (HEMA) 306700 - 8366 8365 F8 - -
03180 HH-6 hypogonadotropic hypogonadism, type 6 with/without anosmia (HH-6) 612702 - 0 0 FGF8 - -
00139 ID intellectual disability (ID) - - 1542 1279 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 531 more - -
03780 IMD-32B immunodeficiency, type 32B (IMD-32B) 614894 - 0 0 IRF8 - -
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 - -
05452 MC3DN mitochondrial complex III deficiency, nuclear (MC3DN)] - - 4 4 BCS1L, C11orf83, CYC1, LYRM7, MNF1, TTC19, UQCRB, UQCRC2, UQCRFS1, UQCRQ - -
04387 MC3DN-9 mitochondrial complex III deficiency?, nuclear, type 9 (MC3DN-9) 616111 - 0 0 C11orf83 - -
01115 MRX45 mental retardation, X-linked, type 45 (MRX45) 300498 - 0 0 ZNF81 - -
01066 MRXSSD mental retardation syndrome, X-linked, Siderius type (MRXSSD) 300263 - 0 0 PHF8 - X-linked
02282 RP13 retinitis pigmentosa, type 13 (RP13) 600059 - 0 0 PRPF8 - -
00947 SHFM3 split-hand/foot malformation, type 3, gene duplication syndrome (SHFM3) 246560 AD 10 10 BTRC, DPCD, FBXW4, FGF8, LBX1, POLL - -
Legend   How to query