DisGeNET - a database of gene-disease associations

Walker-Warburg congenital muscular dystrophy, C0265221

Variant: rs104894691 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs104894691

FKRP

0.700

CausalMutation

CLINVAR

Clinical and muscle biopsy findings in Norwegian paediatric patients with limb girdle muscular dystrophy 2I.

24447024

2014

dbSNP:

rs104894691

FKRP

0.700

CausalMutation

CLINVAR

FKRP (826C>A) frequently causes limb-girdle muscular dystrophy in German patients.

15060126

2004

dbSNP:

rs104894691

FKRP

0.700

CausalMutation

CLINVAR

Asymptomatic carriers for homozygous novel mutations in the FKRP gene: the other end of the spectrum.

14647208

2003