FKRP, fukutin related protein, 79147

N. diseases: 248; N. variants: 71
Disease: Walker-Warburg congenital muscular dystrophy ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs563033008
rs563033008
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C0265221
Disease:
Walker-Warburg congenital muscular dystrophy 		A 0.700 CausalMutation CLINVAR Clinical exome sequencing: results from 2819 samples reflecting 1000 families. 27848944 2017
dbSNP: rs563033008
rs563033008
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C0265221
Disease:
Walker-Warburg congenital muscular dystrophy 		A 0.700 CausalMutation CLINVAR Clinical and muscle biopsy findings in Norwegian paediatric patients with limb girdle muscular dystrophy 2I. 24447024 2014
dbSNP: rs563033008
rs563033008
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C0265221
Disease:
Walker-Warburg congenital muscular dystrophy 		A 0.700 CausalMutation CLINVAR FKRP (826C>A) frequently causes limb-girdle muscular dystrophy in German patients. 15060126 2004
dbSNP: rs563033008
rs563033008
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C0265221
Disease:
Walker-Warburg congenital muscular dystrophy 		A 0.700 CausalMutation CLINVAR Asymptomatic carriers for homozygous novel mutations in the FKRP gene: the other end of the spectrum. 14647208 2003