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: rs1558396285
rs1558396285
Entrez Id: 2271
Gene Symbol: FH
FH
CUI: C0342770
Disease:
Fumarase deficiency 		G 0.700 GeneticVariation CLINVAR Novel FH mutations in families with hereditary leiomyomatosis and renal cell cancer (HLRCC) and patients with isolated type 2 papillary renal cell carcinoma. 21398687 2011
dbSNP: rs1558396285
rs1558396285
Entrez Id: 2271
Gene Symbol: FH
FH
CUI: C0342770
Disease:
Fumarase deficiency 		G 0.700 GeneticVariation CLINVAR Hereditary leiomyomatosis and renal cell cancer: update on clinical and molecular characteristics. 21404119 2011
dbSNP: rs1558396285
rs1558396285
Entrez Id: 2271
Gene Symbol: FH
FH
CUI: C0342770
Disease:
Fumarase deficiency 		G 0.700 GeneticVariation CLINVAR Fumarate hydratase enzyme activity in lymphoblastoid cells and fibroblasts of individuals in families with hereditary leiomyomatosis and renal cell cancer. 16597677 2006
dbSNP: rs1558396285
rs1558396285
Entrez Id: 2271
Gene Symbol: FH
FH
CUI: C0342770
Disease:
Fumarase deficiency 		G 0.700 GeneticVariation CLINVAR Mutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North America. 12772087 2003
dbSNP: rs1558396285
rs1558396285
Entrez Id: 2271
Gene Symbol: FH
FH
CUI: C0342770
Disease:
Fumarase deficiency 		G 0.700 GeneticVariation CLINVAR Molecular analysis and prenatal diagnosis of human fumarase deficiency. 9635293 1998