DisGeNET - a database of gene-disease associations

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2, C3150411

Variant: rs267606965 ×

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:

rs267606965

POMT2

0.800

GeneticVariation

UNIPROT

Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome.

22958903

2012

dbSNP:

rs267606965

POMT2

0.800

GeneticVariation

UNIPROT

POMT2 intragenic deletions and splicing abnormalities causing congenital muscular dystrophy with mental retardation.

19138766

2009

dbSNP:

rs267606965

POMT2

0.800

GeneticVariation

UNIPROT

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

17878207

2007

dbSNP:

rs267606965

POMT2

0.800

GeneticVariation

UNIPROT

POMT2 mutation in a patient with 'MEB-like' phenotype.

16701995

2006

dbSNP:

rs267606965

POMT2

0.800

GeneticVariation

UNIPROT

POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome.

15894594

2005

dbSNP:

rs267606965

POMT2

0.800

CausalMutation

CLINVAR