DisGeNET - a database of gene-disease associations

GMPPB, GDP-mannose pyrophosphorylase B, 29925

N. diseases: 158; N. variants: 23

Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14 ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs142336618

Entrez Id:	29925
Gene Symbol:	GMPPB

GMPPB

CUI:	C3714932
Disease:

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14

0.800

GeneticVariation

UNIPROT

Novel mutations in the C-terminal region of GMPPB causing limb-girdle muscular dystrophy overlapping with congenital myasthenic syndrome.

28433477

2017

dbSNP:

rs142336618

Entrez Id:	29925
Gene Symbol:	GMPPB

GMPPB

CUI:	C3714932
Disease:

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14

0.800

GeneticVariation

UNIPROT

Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan.

23768512

2013

dbSNP:

rs142336618

Entrez Id:	29925
Gene Symbol:	GMPPB

GMPPB

CUI:	C3714932
Disease:

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14

0.800

GeneticVariation

UNIPROT

Late-onset limb-girdle muscular dystrophy caused by GMPPB mutations.

28478914

2017

dbSNP:

rs142336618

Entrez Id:	29925
Gene Symbol:	GMPPB

GMPPB

CUI:	C3714932
Disease:

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14

0.800

GeneticVariation

UNIPROT

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

26310427

2015

dbSNP:

rs142908436

Entrez Id:	29925
Gene Symbol:	GMPPB

GMPPB

CUI:	C3714932
Disease:

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14

0.800

GeneticVariation

UNIPROT

Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan.

23768512

2013

dbSNP:

rs142908436

Entrez Id:	29925
Gene Symbol:	GMPPB

GMPPB

CUI:	C3714932
Disease:

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14

0.800

GeneticVariation

UNIPROT

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

26310427

2015

dbSNP:

rs142908436

Entrez Id:	29925
Gene Symbol:	GMPPB

GMPPB

CUI:	C3714932
Disease:

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14

0.800

GeneticVariation

UNIPROT

Late-onset limb-girdle muscular dystrophy caused by GMPPB mutations.

28478914

2017

dbSNP:

rs142908436

Entrez Id:	29925
Gene Symbol:	GMPPB

GMPPB

CUI:	C3714932
Disease:

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14

0.800

GeneticVariation

UNIPROT

Novel mutations in the C-terminal region of GMPPB causing limb-girdle muscular dystrophy overlapping with congenital myasthenic syndrome.

28433477

2017

dbSNP:

rs199922550

Entrez Id:	29925;63891
Gene Symbol:	GMPPB;RNF123

GMPPB;RNF123

CUI:	C3714932
Disease:

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14

0.800

GeneticVariation

UNIPROT

dbSNP:

rs202160208

Entrez Id:	29925
Gene Symbol:	GMPPB

GMPPB

CUI:	C3714932
Disease:

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14

0.800

GeneticVariation

UNIPROT

dbSNP:

rs397509424

Entrez Id:	29925
Gene Symbol:	GMPPB

GMPPB

CUI:	C3714932
Disease:

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14

0.800

GeneticVariation

UNIPROT

Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan.

23768512

2013

dbSNP:

rs397509424

Entrez Id:	29925
Gene Symbol:	GMPPB

GMPPB

CUI:	C3714932
Disease:

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14

0.800

GeneticVariation

UNIPROT

Novel mutations in the C-terminal region of GMPPB causing limb-girdle muscular dystrophy overlapping with congenital myasthenic syndrome.

28433477

2017

dbSNP:

rs397509424

Entrez Id:	29925
Gene Symbol:	GMPPB

GMPPB

CUI:	C3714932
Disease:

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14

0.800

GeneticVariation

UNIPROT

Late-onset limb-girdle muscular dystrophy caused by GMPPB mutations.

28478914

2017

dbSNP:

rs397509424

Entrez Id:	29925
Gene Symbol:	GMPPB

GMPPB

CUI:	C3714932
Disease:

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14

0.800

GeneticVariation

UNIPROT

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

26310427

2015

dbSNP:

rs761714818

Entrez Id:	29925
Gene Symbol:	GMPPB

GMPPB

CUI:	C3714932
Disease:

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14

0.800

GeneticVariation

UNIPROT

Late-onset limb-girdle muscular dystrophy caused by GMPPB mutations.

28478914

2017

dbSNP:

rs761714818

Entrez Id:	29925
Gene Symbol:	GMPPB

GMPPB

CUI:	C3714932
Disease:

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14

0.800

GeneticVariation

UNIPROT

Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan.

23768512

2013

dbSNP:

rs761714818

Entrez Id:	29925
Gene Symbol:	GMPPB

GMPPB

CUI:	C3714932
Disease:

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14

0.800

GeneticVariation

UNIPROT

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

26310427

2015

dbSNP:

rs761714818

Entrez Id:	29925
Gene Symbol:	GMPPB

GMPPB

CUI:	C3714932
Disease:

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14

0.800

GeneticVariation

UNIPROT

Novel mutations in the C-terminal region of GMPPB causing limb-girdle muscular dystrophy overlapping with congenital myasthenic syndrome.

28433477

2017

dbSNP:

rs771861177

Entrez Id:	29925;63891
Gene Symbol:	GMPPB;RNF123

GMPPB;RNF123

CUI:	C3714932
Disease:

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14

0.800

GeneticVariation

UNIPROT

dbSNP:

rs875989850

Entrez Id:	29925
Gene Symbol:	GMPPB

GMPPB

CUI:	C3714932
Disease:

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14

0.800

GeneticVariation

UNIPROT

Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan.

23768512

2013

dbSNP:

rs875989850

Entrez Id:	29925
Gene Symbol:	GMPPB

GMPPB

CUI:	C3714932
Disease:

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14

0.800

GeneticVariation

UNIPROT

Late-onset limb-girdle muscular dystrophy caused by GMPPB mutations.

28478914

2017

dbSNP:

rs875989850

Entrez Id:	29925
Gene Symbol:	GMPPB

GMPPB

CUI:	C3714932
Disease:

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14

0.800

GeneticVariation

UNIPROT

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

26310427

2015

dbSNP:

rs875989850

Entrez Id:	29925
Gene Symbol:	GMPPB

GMPPB

CUI:	C3714932
Disease:

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14

0.800

GeneticVariation

UNIPROT

Novel mutations in the C-terminal region of GMPPB causing limb-girdle muscular dystrophy overlapping with congenital myasthenic syndrome.

28433477

2017

dbSNP:

rs1064796834

Entrez Id:	29925;63891
Gene Symbol:	GMPPB;RNF123

GMPPB;RNF123

CUI:	C3714932
Disease:

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14

0.700

GeneticVariation

UNIPROT

dbSNP:

rs145535498

Entrez Id:	29925
Gene Symbol:	GMPPB

GMPPB

CUI:	C3714932
Disease:

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14

0.700

GeneticVariation

UNIPROT