FH, fumarate hydratase, 2271

N. diseases: 231; N. variants: 143
Disease: Fumarase deficiency ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs398123168
rs398123168
Entrez Id: 2271
Gene Symbol: FH
FH
CUI: C0342770
Disease:
Fumarase deficiency 		A 0.700 CausalMutation CLINVAR Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysis. 20618355 2011
dbSNP: rs398123168
rs398123168
Entrez Id: 2271
Gene Symbol: FH
FH
CUI: C0342770
Disease:
Fumarase deficiency 		A 0.700 CausalMutation CLINVAR Structural basis of fumarate hydratase deficiency. 21445611 2011
dbSNP: rs398123168
rs398123168
Entrez Id: 2271
Gene Symbol: FH
FH
CUI: C0342770
Disease:
Fumarase deficiency 		A 0.700 CausalMutation CLINVAR Germline fumarate hydratase mutations in families with multiple cutaneous and uterine leiomyomata. 14632190 2003
dbSNP: rs398123168
rs398123168
Entrez Id: 2271
Gene Symbol: FH
FH
CUI: C0342770
Disease:
Fumarase deficiency 		A 0.700 CausalMutation CLINVAR Mutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North America. 12772087 2003
dbSNP: rs398123168
rs398123168
Entrez Id: 2271
Gene Symbol: FH
FH
CUI: C0342770
Disease:
Fumarase deficiency 		A 0.700 GeneticVariation CLINVAR