DisGeNET - a database of gene-disease associations

rs2476601, AP4B1-AS1;PTPN22

N. diseases: 121

Disease: Esophageal Achalasia ×

Source: ALL

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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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Esophageal Achalasia

CUI:	C0014848
Disease:	Esophageal Achalasia

0.010

GeneticVariation

BEFREE

Gender-specific association of the PTPN22 C1858T polymorphism with achalasia.

2007