DisGeNET - a database of gene-disease associations

Source: ALL

Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7 ×

Gene: CRPPA-AS1 ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	100506025
Gene Symbol:	CRPPA-AS1

CRPPA-AS1

CUI:	C4015095
Disease:	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7

0.100

CausalMutation

CLINVAR

ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies.

23288328

2013

Entrez Id:	100506025
Gene Symbol:	CRPPA-AS1

CRPPA-AS1

CUI:	C4015095
Disease:	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7

0.100

CausalMutation

CLINVAR

ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome.

22522420

2012

Entrez Id:	100506025
Gene Symbol:	CRPPA-AS1

CRPPA-AS1

CUI:	C4015095
Disease:	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7

0.100

GeneticVariation

CLINVAR