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
02396 ALPS Autoimmune lymphoproliferative syndrome 601859 AD 2 2 FAS, FASLG - -
00639 cancer, lung cancer, lung (adenocarcinoma) 211980 - 55 43 BRAF, CASP8, CYP2A6, DLEC1, EGFR, ERBB2, ERCC6, FASLG, IRF1, KRAS, MAP3K8, PARK2, PIK3CA, PPP2R1B, RASSF1, SFTPA2, SLC22A18 - -
06496 COXPD44 Combined oxidative phosphorylation deficiency 44 618855 AR - - FASTKD2 - -
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 - -
01740 MC4DN mitochondrial complex IV deficiency (MCDN4) - - 17 17 APOPT1, COA5, COX10, COX14, COX20, COX5A, COX6A2, COX6B1, FASTKD2, PET100, SCO1, SURF1, TACO1 - -
06049 NEDCPMD Neurodevelopmental disorder with central and peripheral motor dysfunction 618356 AR - - NFASC - -
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