DisGeNET - a database of gene-disease associations

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2, C3150418

Variant: rs267606967 ×

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:

rs267606967

POMT2

0.800

GeneticVariation

UNIPROT

Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.

17878207

2007

dbSNP:

rs267606967

POMT2

0.800

GeneticVariation

UNIPROT

POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes.

17923109

2007

dbSNP:

rs267606967

POMT2

0.800

CausalMutation

CLINVAR