DIAPH1, diaphanous related formin 1, 1729

N. diseases: 71; N. variants: 12
Disease: Seizures ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036572
Disease: Seizures
Seizures 		0.110 GeneticVariation phenotype BEFREE Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures. 26463574 2016
CUI: C0036572
Disease: Seizures
Seizures 		0.110 Biomarker phenotype HPO