FH, fumarate hydratase, 2271

N. diseases: 231; N. variants: 143
Disease: Encephalopathies ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		0.020 Biomarker group BEFREE A key enzyme of tricarboxylic cycle, fumarate hydratase (FH), is involved in encephalopathies, but also in leiomyoma formation, and occasionally also in various types of cancer. 18313410 2008
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		0.020 GeneticVariation group BEFREE Mutation of the fumarase gene in two siblings with progressive encephalopathy and fumarase deficiency. 8200987 1994