DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Blepharoptosis ×

Gene: PAX7 ×

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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:	5081
Gene Symbol:	PAX7

PAX7

CUI:	C0005745
Disease:	Blepharoptosis

Blepharoptosis

0.300

Biomarker

GENOMICS_ENGLAND

Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy.

31092906

2019

Entrez Id:	5081
Gene Symbol:	PAX7