DisGeNET - a database of gene-disease associations

KBTBD2, kelch repeat and BTB domain containing 2, 25948

N. diseases: 4; N. variants: 4

Disease: Creatinine measurement, serum (procedure) ×

Variant: rs3750082 ×

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:

rs3750082

Entrez Id:	25948
Gene Symbol:	KBTBD2

KBTBD2

CUI:	C0201976
Disease:

Creatinine measurement, serum (procedure)

0.700

GeneticVariation

GWASCAT

Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function.

26831199

2016