DisGeNET - a database of gene-disease associations

ATP2A2, ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2, 488

N. diseases: 159; N. variants: 17

Disease: Keratosis Follicularis ×

Variant: rs121912731 ×

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:

rs121912731

rs121912731

Entrez Id:	488
Gene Symbol:	ATP2A2

ATP2A2

CUI:	C0022595
Disease:

Keratosis Follicularis

T

0.700

CausalMutation

CLINVAR