FKRP, fukutin related protein, 79147

N. diseases: 248; N. variants: 71
Disease: Fukuyama Type Congenital Muscular Dystrophy ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs775681117
rs775681117
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C0410174
Disease:
Fukuyama Type Congenital Muscular Dystrophy 		C 0.700 CausalMutation CLINVAR