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 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 CausalMutation CLINVAR Fumarate Hydratase-deficient Renal Cell Carcinoma Is Strongly Correlated With Fumarate Hydratase Mutation and Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome. 26900816

2016

Entrez Id: 2271
Gene Symbol: FH
FH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 CausalMutation CLINVAR Fumarate Hydratase Mutation in a Young Woman With Uterine Leiomyomas and a Family History of Renal Cell Cancer. 25923021

2015

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 CausalMutation CLINVAR Hereditary leiomyomatosis associated with renal cell carcinoma. 25477250

2015

Entrez Id: 2271
Gene Symbol: FH
FH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 GeneticVariation CLINVAR Genetic testing of leiomyoma tissue in women younger than 30 years old might provide an effective screening approach for the hereditary leiomyomatosis and renal cell cancer syndrome (HLRCC). 25985877

2015

Entrez Id: 2271
Gene Symbol: FH
FH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 CausalMutation CLINVAR Use of Whole Genome Sequencing for Diagnosis and Discovery in the Cancer Genetics Clinic. 26023681

2015

Entrez Id: 2271
Gene Symbol: FH
FH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 CausalMutation CLINVAR Reed syndrome presenting with leiomyosarcoma. 27051714

2015

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 CausalMutation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015

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 GeneticVariation CLINVAR Hereditary leiomyomatosis and renal cell carcinoma syndrome-associated renal cancer: recognition of the syndrome by pathologic features and the utility of detecting aberrant succination by immunohistochemistry. 24441663

2014

Entrez Id: 2271
Gene Symbol: FH
FH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 CausalMutation CLINVAR Hereditary leiomyomatosis and renal cell carcinoma (HLRCC): a rapid autopsy report of metastatic renal cell carcinoma. 24625422

2014

Entrez Id: 2271
Gene Symbol: FH
FH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 GeneticVariation CLINVAR Novel missense mutation in the FH gene in familial renal cell cancer patients lacking cutaneous leiomyomas. 24684806

2014

Entrez Id: 2271
Gene Symbol: FH
FH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 GeneticVariation CLINVAR Germline FH mutations presenting with pheochromocytoma. 25004247

2014

Entrez Id: 2271
Gene Symbol: FH
FH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 CausalMutation CLINVAR Hereditary leiomyomatosis and renal cell cancer (HLRCC): renal cancer risk, surveillance and treatment. 25012257

2014

Entrez Id: 2271
Gene Symbol: FH
FH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 CausalMutation CLINVAR Hereditary leiomyomatosis and renal cell carcinoma syndrome-associated renal cancer: recognition of the syndrome by pathologic features and the utility of detecting aberrant succination by immunohistochemistry. 24441663

2014

Entrez Id: 2271
Gene Symbol: FH
FH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 GeneticVariation CLINVAR Fumarase deficiency in dichorionic diamniotic twins. 24182348

2013

Entrez Id: 2271
Gene Symbol: FH
FH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 GeneticVariation CLINVAR Hereditary papillary renal cell carcinoma primarily diagnosed in a cervical lymph node: a case report of a 30-year-old woman with multiple metastases. 23320739

2013

Entrez Id: 2271
Gene Symbol: FH
FH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 GeneticVariation CLINVAR Mild clinical presentation and prolonged survival of a patient with fumarase deficiency due to the combination of a known and a novel mutation in FH gene. 23612258

2013

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 Morphologic and molecular characteristics of uterine leiomyomas in hereditary leiomyomatosis and renal cancer (HLRCC) syndrome. 23211287

2013

Entrez Id: 2271
Gene Symbol: FH
FH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 GeneticVariation CLINVAR Fumarate hydratase gene mutation in two young patients with sporadic uterine fibroids. 22764886

2013

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 CausalMutation CLINVAR Mild fumarase deficiency and a trial of low protein diet. 22595425

2012