DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Blepharoptosis ×

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:	7862
Gene Symbol:	BRPF1

BRPF1

CUI:	C0005745
Disease:	Blepharoptosis

Blepharoptosis

0.110

Biomarker

BEFREE

Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis.

2017

Entrez Id:	7862
Gene Symbol:	BRPF1

BRPF1

CUI:	C0005745
Disease:	Blepharoptosis

Blepharoptosis

0.110

Biomarker

HPO