DisGeNET - a database of gene-disease associations

PERP, p53 apoptosis effector related to PMP22, 64065

N. diseases: 47; N. variants: 1

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:

rs648802

Entrez Id:	64065
Gene Symbol:	PERP

PERP

CUI:	C0017168
Disease:

Gastroesophageal reflux disease

0.010

GeneticVariation

BEFREE

Four SNPs (PERP rs648802; PIK3CA rs4855094, rs7644468 and TNFRSF1A rs4149579) had significant interaction with gastroesophageal reflux disease (GERD).

21212151

2011