DisGeNET - a database of gene-disease associations

Gene: PABPN1 ×

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:	8106
Gene Symbol:	PABPN1

PABPN1

CUI:	C0270952
Disease:	Muscular Dystrophy, Oculopharyngeal

Muscular Dystrophy, Oculopharyngeal

0.900

Biomarker

MGD

Recent studies have suggested that a loss of PABPN1 function could contribute to muscle pathology in OPMD.

2017