FH, fumarate hydratase, 2271

N. diseases: 231; N. variants: 143
Disease: Fumarase deficiency ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs367543046
rs367543046
Entrez Id: 2271
Gene Symbol: FH
FH
CUI: C0342770
Disease:
Fumarase deficiency 		ATTT 0.700 GeneticVariation CLINVAR Fumarase deficiency in dichorionic diamniotic twins. 24182348 2013
dbSNP: rs367543046
rs367543046
Entrez Id: 2271
Gene Symbol: FH
FH
CUI: C0342770
Disease:
Fumarase deficiency 		ATTT 0.700 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
dbSNP: rs367543046
rs367543046
Entrez Id: 2271
Gene Symbol: FH
FH
CUI: C0342770
Disease:
Fumarase deficiency 		ATTT 0.700 GeneticVariation CLINVAR Molecular and biochemical investigations in fumarase deficiency. 16510303 2006
dbSNP: rs367543046
rs367543046
Entrez Id: 2271
Gene Symbol: FH
FH
CUI: C0342770
Disease:
Fumarase deficiency 		ATTT 0.700 GeneticVariation CLINVAR Accumulation of Krebs cycle intermediates and over-expression of HIF1alpha in tumours which result from germline FH and SDH mutations. 15987702 2005
dbSNP: rs367543046
rs367543046
Entrez Id: 2271
Gene Symbol: FH
FH
CUI: C0342770
Disease:
Fumarase deficiency 		ATTT 0.700 GeneticVariation CLINVAR Fumarase deficiency presenting with periventricular cysts. 16151915 2005
dbSNP: rs367543046
rs367543046
Entrez Id: 2271
Gene Symbol: FH
FH
CUI: C0342770
Disease:
Fumarase deficiency 		ATTT 0.700 GeneticVariation CLINVAR Molecular analysis and prenatal diagnosis of human fumarase deficiency. 9635293 1998
dbSNP: rs367543046
rs367543046
Entrez Id: 2271
Gene Symbol: FH
FH
CUI: C0342770
Disease:
Fumarase deficiency 		ATTT 0.700 GeneticVariation CLINVAR Inborn errors of the Krebs cycle: a group of unusual mitochondrial diseases in human. 9300800 1997
dbSNP: rs367543046
rs367543046
Entrez Id: 2271
Gene Symbol: FH
FH
CUI: C0342770
Disease:
Fumarase deficiency 		ATTT 0.700 CausalMutation CLINVAR