DisGeNET - a database of gene-disease associations

Muscular Dystrophy, C0026850

Variant: rs142908436 ×

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:

rs142908436

GMPPB

0.700

GeneticVariation

CLINVAR

Two patients with GMPPB mutation: The overlapping phenotypes of limb-girdle myasthenic syndrome and limb-girdle muscular dystrophy dystroglycanopathy.

27874200

2017

dbSNP:

rs142908436

GMPPB

0.700

GeneticVariation

CLINVAR

Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T).

27766311

2016

dbSNP:

rs142908436

GMPPB

0.700

GeneticVariation

CLINVAR

Clinical features of the myasthenic syndrome arising from mutations in GMPPB.

27147698

2016

dbSNP:

rs142908436

GMPPB

0.700

GeneticVariation

CLINVAR

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

27527004

2016

dbSNP:

rs142908436

GMPPB

0.700

GeneticVariation

CLINVAR

Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies.

26133662

2015

dbSNP:

rs142908436

GMPPB

0.700

GeneticVariation

CLINVAR

GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation.

26310427

2015