DisGeNET - a database of gene-disease associations

KCNJ6, potassium inwardly rectifying channel subfamily J member 6, 3763

N. diseases: 104; N. variants: 110

Disease: KEPPEN-LUBINSKY SYNDROME ×

Variant: rs786204795 ×

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:

rs786204795

Entrez Id:	3763;105372799;107985507
Gene Symbol:	KCNJ6;KCNJ6-AS1;LOC107985507

KCNJ6;KCNJ6-AS1;LOC107985507

CUI:	C3279800
Disease:

KEPPEN-LUBINSKY SYNDROME

0.800

GeneticVariation

UNIPROT

Keppen-Lubinsky syndrome is caused by mutations in the inwardly rectifying K+ channel encoded by KCNJ6.

25620207

2015

dbSNP:

rs786204795

Entrez Id:	3763;105372799;107985507
Gene Symbol:	KCNJ6;KCNJ6-AS1;LOC107985507

KCNJ6;KCNJ6-AS1;LOC107985507

CUI:	C3279800
Disease:

KEPPEN-LUBINSKY SYNDROME

0.800

CausalMutation

CLINVAR