FH, fumarate hydratase, 2271

N. diseases: 231; N. variants: 143
Disease: Neoplastic Syndromes, Hereditary ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.150 CausalMutation group CLINVAR Morphologic and molecular characteristics of uterine leiomyomas in hereditary leiomyomatosis and renal cancer (HLRCC) syndrome. 23211287 2013
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.150 GeneticVariation group CLINVAR Fumarate hydratase gene mutation in two young patients with sporadic uterine fibroids. 22764886 2013
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.150 CausalMutation group CLINVAR Conformational changes upon ligand binding in the essential class II fumarase Rv1098c from Mycobacterium tuberculosis. 22561013 2012
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.150 CausalMutation group CLINVAR Mild fumarase deficiency and a trial of low protein diet. 22595425 2012
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.150 GeneticVariation group CLINVAR Bilateral ovarian steroid cell tumours and massive macronodular adrenocortical disease in a patient with hereditary leiomyomatosis and renal cell cancer syndrome. 22565324 2012
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.150 GeneticVariation group CLINVAR Hereditary leiomyomatosis and renal cell cancer presenting as metastatic kidney cancer at 18 years of age: implications for surveillance. 22086304 2012
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.150 GeneticVariation group CLINVAR Conformational changes upon ligand binding in the essential class II fumarase Rv1098c from Mycobacterium tuberculosis. 22561013 2012
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.150 GeneticVariation group CLINVAR Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes. 22703879 2012
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.150 CausalMutation group 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
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.150 GeneticVariation group CLINVAR Renal medullary carcinomas: histopathologic phenotype associated with diverse genotypes. 21733559 2011
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.150 CausalMutation group CLINVAR Hereditary leiomyomatosis and renal cell cancer: update on clinical and molecular characteristics. 21404119 2011
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.150 GeneticVariation group CLINVAR Hereditary leiomyomatosis and renal cell cancer: update on clinical and molecular characteristics. 21404119 2011
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.150 CausalMutation group CLINVAR Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysis. 20618355 2011
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.150 GeneticVariation group CLINVAR Aberrant succination of proteins in fumarate hydratase-deficient mice and HLRCC patients is a robust biomarker of mutation status. 21630274 2011
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.150 GeneticVariation group 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
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.150 GeneticVariation group CLINVAR Structure of fumarate hydratase from Rickettsia prowazekii, the agent of typhus and suspected relative of the mitochondria. 21904061 2011
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.150 CausalMutation group CLINVAR Renal medullary carcinomas: histopathologic phenotype associated with diverse genotypes. 21733559 2011
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.150 GeneticVariation group CLINVAR Clinical and biochemical heterogeneity associated with fumarase deficiency. 21560188 2011
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.150 CausalMutation group CLINVAR Aberrant succination of proteins in fumarate hydratase-deficient mice and HLRCC patients is a robust biomarker of mutation status. 21630274 2011
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.150 GeneticVariation group CLINVAR Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysis. 20618355 2011
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.150 CausalMutation group CLINVAR Structural basis of fumarate hydratase deficiency. 21445611 2011
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.150 GeneticVariation group CLINVAR Structural basis of fumarate hydratase deficiency. 21445611 2011
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.150 CausalMutation group 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
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.150 GeneticVariation group CLINVAR High-throughput structural biology of metabolic enzymes and its impact on human diseases. 21340633 2011
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.150 CausalMutation group CLINVAR Fumaric aciduria: an overview and the first Brazilian case report. 20549362 2010