DisGeNET - a database of gene-disease associations

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1, C3150415

Variant: rs119462987 ×

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:

rs119462987

POMT1

0.800

GeneticVariation

CLINVAR

Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy.

22549409

2012

dbSNP:

rs119462987

POMT1

0.800

GeneticVariation

CLINVAR

POMGnT1, POMT1, and POMT2 mutations in congenital muscular dystrophies.

20816175

2010

dbSNP:

rs119462987

POMT1

0.800

GeneticVariation

CLINVAR

Protein O-mannosyltransferase activities in lymphoblasts from patients with alpha-dystroglycanopathies.

17869517

2008

dbSNP:

rs119462987

POMT1

0.800

GeneticVariation

CLINVAR

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

17878207

2007

dbSNP:

rs119462987

POMT1

0.800

GeneticVariation

CLINVAR

Expanding the clinical spectrum of POMT1 phenotype.

16717220

2006

dbSNP:

rs119462987

POMT1

0.800

GeneticVariation

UNIPROT

dbSNP:

rs119462987

POMT1

0.800

CausalMutation

CLINVAR