DisGeNET - a database of gene-disease associations

KIR3DL3, killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 3, 115653

N. diseases: 7; N. variants: 3

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:

rs1639429

Entrez Id:	3803;3804;3809;115653;100132285
Gene Symbol:	KIR2DL2;KIR2DL3;KIR2DS4;KIR3DL3;KIR2DS2

KIR2DL2;KIR2DL3;KIR2DS4;KIR3DL3;KIR2DS2

CUI:	C2985280
Disease:

Blood Protein Measurement

0.700

GeneticVariation

GWASCAT

Genomic atlas of the human plasma proteome.

29875488

2018

dbSNP:

rs376891043

Entrez Id:	3803;3804;115653;100132285
Gene Symbol:	KIR2DL2;KIR2DL3;KIR3DL3;KIR2DS2

KIR2DL2;KIR2DL3;KIR3DL3;KIR2DS2

CUI:	C2985280
Disease:

Blood Protein Measurement

0.700

GeneticVariation

GWASCAT

Genomic atlas of the human plasma proteome.

29875488

2018

dbSNP:

rs7247700

Entrez Id:	115653;554300
Gene Symbol:	KIR3DL3;KIR2DP1

KIR3DL3;KIR2DP1

CUI:	C0018498
Disease:

Hair Color

0.700

GeneticVariation

GWASCAT

Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability.

30531825

2018