Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2271
Gene Symbol: FH
FH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.150 CausalMutation CLINVAR Inborn errors of the Krebs cycle: a group of unusual mitochondrial diseases in human. 9300800

1997
Entrez Id: 2271
Gene Symbol: FH
FH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.150 GeneticVariation CLINVAR Inborn errors of the Krebs cycle: a group of unusual mitochondrial diseases in human. 9300800

1997
Entrez Id: 2271
Gene Symbol: FH
FH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.150 GeneticVariation CLINVAR Crystal structures of native and recombinant yeast fumarase. 9665847

1998
Entrez Id: 2271
Gene Symbol: FH
FH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.150 GeneticVariation CLINVAR Molecular analysis and prenatal diagnosis of human fumarase deficiency. 9635293

1998
Entrez Id: 2271
Gene Symbol: FH
FH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.150 CausalMutation CLINVAR Molecular analysis and prenatal diagnosis of human fumarase deficiency. 9635293

1998
Entrez Id: 2271
Gene Symbol: FH
FH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.150 CausalMutation CLINVAR Abnormalities in succinylpurines in fumarase deficiency: possible role in pathogenesis of CNS impairment. 10896297

2000
Entrez Id: 2271
Gene Symbol: FH
FH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.150 CausalMutation CLINVAR Few FH mutations in sporadic counterparts of tumor types observed in hereditary leiomyomatosis and renal cell cancer families. 12183404

2002
Entrez Id: 2271
Gene Symbol: FH
FH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.150 GeneticVariation CLINVAR Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer. 11865300

2002
Entrez Id: 2271
Gene Symbol: FH
FH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.150 CausalMutation CLINVAR Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer. 11865300

2002
Entrez Id: 2271
Gene Symbol: FH
FH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.150 CausalMutation CLINVAR Germline fumarate hydratase mutations in families with multiple cutaneous and uterine leiomyomata. 14632190

2003
Entrez Id: 2271
Gene Symbol: FH
FH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.150 GeneticVariation CLINVAR Mutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North America. 12772087

2003
Entrez Id: 2271
Gene Symbol: FH
FH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.150 GeneticVariation CLINVAR Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate hydratase deficiency. 12761039

2003
Entrez Id: 2271
Gene Symbol: FH
FH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.150 CausalMutation CLINVAR Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate hydratase deficiency. 12761039

2003
Entrez Id: 2271
Gene Symbol: FH
FH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.150 CausalMutation CLINVAR Mutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North America. 12772087

2003
Entrez Id: 2271
Gene Symbol: FH
FH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.150 CausalMutation CLINVAR A novel mutation of the fumarase gene in a family with autosomal recessive fumarase deficiency. 15221078

2004
Entrez Id: 2271
Gene Symbol: FH
FH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.150 GeneticVariation CLINVAR Fumarate hydratase mutations and predisposition to cutaneous leiomyomas, uterine leiomyomas and renal cancer. 16029320

2005
Entrez Id: 2271
Gene Symbol: FH
FH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.150 GeneticVariation CLINVAR Fumarase deficiency presenting with periventricular cysts. 16151915

2005
Entrez Id: 2271
Gene Symbol: FH
FH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.150 CausalMutation CLINVAR Fumarate hydratase mutations and predisposition to cutaneous leiomyomas, uterine leiomyomas and renal cancer. 16029320

2005
Entrez Id: 2271
Gene Symbol: FH
FH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.150 CausalMutation CLINVAR Germline fumarate hydratase mutations and evidence for a founder mutation underlying multiple cutaneous and uterine leiomyomata. 15761418

2005
Entrez Id: 2271
Gene Symbol: FH
FH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.150 CausalMutation CLINVAR Missense mutations in fumarate hydratase in multiple cutaneous and uterine leiomyomatosis and renal cell cancer. 16237213

2005
Entrez Id: 2271
Gene Symbol: FH
FH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.150 CausalMutation CLINVAR Familial multiple cutaneous and uterine leiomyomas associated with papillary renal cell cancer. 15663510

2005
Entrez Id: 2271
Gene Symbol: FH
FH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.150 GeneticVariation CLINVAR Germline fumarate hydratase mutations and evidence for a founder mutation underlying multiple cutaneous and uterine leiomyomata. 15761418

2005
Entrez Id: 2271
Gene Symbol: FH
FH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.150 GeneticVariation CLINVAR Accumulation of Krebs cycle intermediates and over-expression of HIF1alpha in tumours which result from germline FH and SDH mutations. 15987702

2005
Entrez Id: 2271
Gene Symbol: FH
FH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.150 CausalMutation CLINVAR Accumulation of Krebs cycle intermediates and over-expression of HIF1alpha in tumours which result from germline FH and SDH mutations. 15987702

2005
Entrez Id: 2271
Gene Symbol: FH
FH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.150 CausalMutation CLINVAR Novel mutations in FH and expansion of the spectrum of phenotypes expressed in families with hereditary leiomyomatosis and renal cell cancer. 15937070

2006