rs121913121, FH

N. diseases: 6
Disease: Hereditary Leiomyomatosis and Renal Cell Cancer ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hereditary Leiomyomatosis and Renal Cell Cancer
CUI: C1708350
Disease: Hereditary Leiomyomatosis and Renal Cell Cancer
0.800 GeneticVariation UNIPROT Local generation of fumarate promotes DNA repair through inhibition of histone H3 demethylation. 26237645 2015
Hereditary Leiomyomatosis and Renal Cell Cancer
CUI: C1708350
Disease: Hereditary Leiomyomatosis and Renal Cell Cancer
0.800 GeneticVariation UNIPROT Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer. 11865300 2002
Hereditary Leiomyomatosis and Renal Cell Cancer
CUI: C1708350
Disease: Hereditary Leiomyomatosis and Renal Cell Cancer
0.800 GeneticVariation UNIPROT Mutation of the fumarase gene in two siblings with progressive encephalopathy and fumarase deficiency. 8200987 1994
Hereditary Leiomyomatosis and Renal Cell Cancer
CUI: C1708350
Disease: Hereditary Leiomyomatosis and Renal Cell Cancer
0.800 CausalMutation CLINVAR