FH, fumarate hydratase, 2271

N. diseases: 231; N. variants: 143
Disease: Fumarase deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0342770
Disease: Fumarase deficiency
Fumarase deficiency 		0.740 Biomarker disease CTD_human
CUI: C0342770
Disease: Fumarase deficiency
Fumarase deficiency 		0.740 CausalMutation disease CLINVAR Fumarase deficiency is an autosomal recessive encephalopathy affecting both the mitochondrial and the cytosolic enzymes. 2314594 1990
CUI: C0342770
Disease: Fumarase deficiency
Fumarase deficiency 		0.740 GeneticVariation disease BEFREE Mutation of the fumarase gene in two siblings with progressive encephalopathy and fumarase deficiency. 8200987 1994
CUI: C0342770
Disease: Fumarase deficiency
Fumarase deficiency 		0.740 CausalMutation disease CLINVAR Inborn errors of the Krebs cycle: a group of unusual mitochondrial diseases in human. 9300800 1997
CUI: C0342770
Disease: Fumarase deficiency
Fumarase deficiency 		0.740 GeneticVariation disease CLINVAR Inborn errors of the Krebs cycle: a group of unusual mitochondrial diseases in human. 9300800 1997
CUI: C0342770
Disease: Fumarase deficiency
Fumarase deficiency 		0.740 GeneticVariation disease CLINVAR Molecular analysis and prenatal diagnosis of human fumarase deficiency. 9635293 1998
CUI: C0342770
Disease: Fumarase deficiency
Fumarase deficiency 		0.740 Biomarker disease GENOMICS_ENGLAND Molecular analysis and prenatal diagnosis of human fumarase deficiency. 9635293 1998
CUI: C0342770
Disease: Fumarase deficiency
Fumarase deficiency 		0.740 GeneticVariation disease UNIPROT Molecular analysis and prenatal diagnosis of human fumarase deficiency. 9635293 1998
CUI: C0342770
Disease: Fumarase deficiency
Fumarase deficiency 		0.740 CausalMutation disease CLINVAR Molecular analysis and prenatal diagnosis of human fumarase deficiency. 9635293 1998
CUI: C0342770
Disease: Fumarase deficiency
Fumarase deficiency 		0.740 CausalMutation disease CLINVAR Abnormalities in succinylpurines in fumarase deficiency: possible role in pathogenesis of CNS impairment. 10896297 2000
CUI: C0342770
Disease: Fumarase deficiency
Fumarase deficiency 		0.740 GeneticVariation disease CLINVAR Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer. 11865300 2002
CUI: C0342770
Disease: Fumarase deficiency
Fumarase deficiency 		0.740 CausalMutation disease CLINVAR Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer. 11865300 2002
CUI: C0342770
Disease: Fumarase deficiency
Fumarase deficiency 		0.740 CausalMutation disease 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
CUI: C0342770
Disease: Fumarase deficiency
Fumarase deficiency 		0.740 GeneticVariation disease CLINVAR Mutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North America. 12772087 2003
CUI: C0342770
Disease: Fumarase deficiency
Fumarase deficiency 		0.740 GeneticVariation disease 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
CUI: C0342770
Disease: Fumarase deficiency
Fumarase deficiency 		0.740 CausalMutation disease CLINVAR Mutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North America. 12772087 2003
CUI: C0342770
Disease: Fumarase deficiency
Fumarase deficiency 		0.740 CausalMutation disease CLINVAR Germline fumarate hydratase mutations in families with multiple cutaneous and uterine leiomyomata. 14632190 2003
CUI: C0342770
Disease: Fumarase deficiency
Fumarase deficiency 		0.740 GeneticVariation disease BEFREE A novel mutation of the fumarase gene in a family with autosomal recessive fumarase deficiency. 15221078 2004
CUI: C0342770
Disease: Fumarase deficiency
Fumarase deficiency 		0.740 CausalMutation disease CLINVAR A novel mutation of the fumarase gene in a family with autosomal recessive fumarase deficiency. 15221078 2004
CUI: C0342770
Disease: Fumarase deficiency
Fumarase deficiency 		0.740 CausalMutation disease CLINVAR Missense mutations in fumarate hydratase in multiple cutaneous and uterine leiomyomatosis and renal cell cancer. 16237213 2005
CUI: C0342770
Disease: Fumarase deficiency
Fumarase deficiency 		0.740 CausalMutation disease CLINVAR Germline fumarate hydratase mutations and evidence for a founder mutation underlying multiple cutaneous and uterine leiomyomata. 15761418 2005
CUI: C0342770
Disease: Fumarase deficiency
Fumarase deficiency 		0.740 CausalMutation disease CLINVAR The SDH mutation database: an online resource for succinate dehydrogenase sequence variants involved in pheochromocytoma, paraganglioma and mitochondrial complex II deficiency. 16288654 2005
CUI: C0342770
Disease: Fumarase deficiency
Fumarase deficiency 		0.740 GeneticVariation disease CLINVAR Accumulation of Krebs cycle intermediates and over-expression of HIF1alpha in tumours which result from germline FH and SDH mutations. 15987702 2005
CUI: C0342770
Disease: Fumarase deficiency
Fumarase deficiency 		0.740 Biomarker disease GENOMICS_ENGLAND Fumarase deficiency presenting with periventricular cysts. 16151915 2005
CUI: C0342770
Disease: Fumarase deficiency
Fumarase deficiency 		0.740 GeneticVariation disease CLINVAR Fumarase deficiency presenting with periventricular cysts. 16151915 2005