FKRP, fukutin related protein, 79147

N. diseases: 248; N. variants: 71
Disease: Seizures ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036572
Disease: Seizures
Seizures 		0.400 Biomarker phenotype GENOMICS_ENGLAND Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan. 11592034 2001
CUI: C0036572
Disease: Seizures
Seizures 		0.400 Biomarker phenotype HPO