DisGeNET - a database of gene-disease associations

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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

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1541252

ATP2B4

CUI:	C0474535
Disease:	Mean corpuscular hemoglobin concentration determination

Mean corpuscular hemoglobin concentration determination

0.700

GeneticVariation

GWASDB

GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.

2013