DisGeNET - a database of gene-disease associations

KIR3DL1, killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1, 3811

N. diseases: 231; N. variants: 12

Disease: Hirschsprung Disease ×

Source: ALL

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Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Disease

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

CUI:	C0019569
Disease:	Hirschsprung Disease

Hirschsprung Disease

0.100

GeneticVariation

disease

GWASDB

Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's disease.

2009