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 GeneticVariation CLINVAR A novel missense mutation in fumarate hydratase in an Italian patient with a diffuse variant of cutaneous leiomyomatosis (Reed's syndrome). 21051878

2010
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 Aberrant succination of proteins in fumarate hydratase-deficient mice and HLRCC patients is a robust biomarker of mutation status. 21630274

2011
Entrez Id: 2271
Gene Symbol: FH
FH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.150 CausalMutation CLINVAR Aberrant succination of proteins in fumarate hydratase-deficient mice and HLRCC patients is a robust biomarker of mutation status. 21630274

2011
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 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 Actionable exomic incidental findings in 6503 participants: challenges of variant classification. 25637381

2015
Entrez Id: 2271
Gene Symbol: FH
FH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.150 GeneticVariation CLINVAR Adrenal nodular hyperplasia in hereditary leiomyomatosis and renal cell cancer. 22982371

2013
Entrez Id: 2271
Gene Symbol: FH
FH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.150 CausalMutation CLINVAR Adult leydig cell tumors of the testis caused by germline fumarate hydratase mutations. 16757530

2006
Entrez Id: 2271
Gene Symbol: FH
FH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.150 CausalMutation CLINVAR An unusual case of sporadic hereditary leiomyomatosis and renal cell carcinoma syndrome. 25750977

2015
Entrez Id: 2271
Gene Symbol: FH
FH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.150 GeneticVariation CLINVAR Bilateral ovarian steroid cell tumours and massive macronodular adrenocortical disease in a patient with hereditary leiomyomatosis and renal cell cancer syndrome. 22565324

2012
Entrez Id: 2271
Gene Symbol: FH
FH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.150 CausalMutation CLINVAR Cascade Fumarate Hydratase mutation screening allows early detection of kidney tumour: a case report. 28747166

2017
Entrez Id: 2271
Gene Symbol: FH
FH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.150 GeneticVariation CLINVAR Clinical and biochemical heterogeneity associated with fumarase deficiency. 21560188

2011
Entrez Id: 2271
Gene Symbol: FH
FH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.150 CausalMutation CLINVAR Clinical and molecular genetic aspects of hereditary multiple cutaneous leiomyomatosis. 19939761

2010
Entrez Id: 2271
Gene Symbol: FH
FH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.150 GeneticVariation CLINVAR Cloning, expression, purification, crystallization and preliminary X-ray diffraction analysis of recombinant human fumarase. 24419633

2014
Entrez Id: 2271
Gene Symbol: FH
FH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.150 CausalMutation CLINVAR Conformational changes upon ligand binding in the essential class II fumarase Rv1098c from Mycobacterium tuberculosis. 22561013

2012
Entrez Id: 2271
Gene Symbol: FH
FH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.150 GeneticVariation CLINVAR Conformational changes upon ligand binding in the essential class II fumarase Rv1098c from Mycobacterium tuberculosis. 22561013

2012
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 CausalMutation CLINVAR Detection of a novel FH whole gene deletion in the propositus leading to subsequent prenatal diagnosis in a sibship with fumarase deficiency. 22069215

2012
Entrez Id: 2271
Gene Symbol: FH
FH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.150 CausalMutation CLINVAR Differential metabolic consequences of fumarate hydratase and respiratory chain defects. 18313410

2008
Entrez Id: 2271
Gene Symbol: FH
FH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.150 CausalMutation CLINVAR Downregulation of SRF-FOS-JUNB pathway in fumarate hydratase deficiency and in uterine leiomyomas. 19151755

2009
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 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 CausalMutation CLINVAR Fumarase deficiency caused by homozygous P131R mutation and paternal partial isodisomy of chromosome 1. 16575891

2006