FH, fumarate hydratase, 2271

N. diseases: 231; N. variants: 143
Disease: Hereditary Leiomyomatosis and Renal Cell Cancer ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913119
rs121913119
Entrez Id: 2271
Gene Symbol: FH
FH
CUI: C1708350
Disease:
Hereditary Leiomyomatosis and Renal Cell Cancer 		0.700 GeneticVariation UNIPROT Local generation of fumarate promotes DNA repair through inhibition of histone H3 demethylation. 26237645 2015
dbSNP: rs121913119
rs121913119
Entrez Id: 2271
Gene Symbol: FH
FH
CUI: C1708350
Disease:
Hereditary Leiomyomatosis and Renal Cell Cancer 		0.700 GeneticVariation UNIPROT Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer. 11865300 2002
dbSNP: rs121913119
rs121913119
Entrez Id: 2271
Gene Symbol: FH
FH
CUI: C1708350
Disease:
Hereditary Leiomyomatosis and Renal Cell Cancer 		0.700 GeneticVariation UNIPROT Mutation of the fumarase gene in two siblings with progressive encephalopathy and fumarase deficiency. 8200987 1994