FH, fumarate hydratase, 2271

N. diseases: 231; N. variants: 143
Disease: Seizures ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036572
Disease: Seizures
Seizures 		0.300 Biomarker phenotype GENOMICS_ENGLAND Fumarase deficiency presenting with periventricular cysts. 16151915 2005