DisGeNET - a database of gene-disease associations

KCNK3, potassium two pore domain channel subfamily K member 3, 3777

N. diseases: 93; N. variants: 21

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:

rs1553387422

Entrez Id:	3777
Gene Symbol:	KCNK3

KCNK3

CUI:	C3809198
Disease:

PULMONARY HYPERTENSION, PRIMARY, 4

0.700

GeneticVariation

CLINVAR

dbSNP:

rs398123039

Entrez Id:	3777
Gene Symbol:	KCNK3

KCNK3

CUI:	C4552070
Disease:

Pulmonary Hypertension, Primary, 1

0.700

CausalMutation

CLINVAR

dbSNP:

rs398123039

Entrez Id:	3777
Gene Symbol:	KCNK3

KCNK3

CUI:	C3809198
Disease:

PULMONARY HYPERTENSION, PRIMARY, 4

0.700

CausalMutation

CLINVAR

dbSNP:

rs398123040

Entrez Id:	3777
Gene Symbol:	KCNK3

KCNK3

CUI:	C3809198
Disease:

PULMONARY HYPERTENSION, PRIMARY, 4

0.700

CausalMutation

CLINVAR

dbSNP:

rs398123041

Entrez Id:	3777
Gene Symbol:	KCNK3

KCNK3

CUI:	C3809198
Disease:

PULMONARY HYPERTENSION, PRIMARY, 4

0.700

CausalMutation

CLINVAR

dbSNP:

rs398123042

Entrez Id:	3777
Gene Symbol:	KCNK3

KCNK3

CUI:	C3809198
Disease:

PULMONARY HYPERTENSION, PRIMARY, 4

0.700

CausalMutation

CLINVAR

dbSNP:

rs398123043

Entrez Id:	3777
Gene Symbol:	KCNK3

KCNK3

CUI:	C3809198
Disease:

PULMONARY HYPERTENSION, PRIMARY, 4

0.700

CausalMutation

CLINVAR

dbSNP:

rs1085307438

Entrez Id:	3777
Gene Symbol:	KCNK3

KCNK3

CUI:	C3809198
Disease:

PULMONARY HYPERTENSION, PRIMARY, 4

0.800

CausalMutation

CLINVAR

A novel channelopathy in pulmonary arterial hypertension.

23883380

2013

dbSNP:

rs1085307438

Entrez Id:	3777
Gene Symbol:	KCNK3

KCNK3

CUI:	C3809198
Disease:

PULMONARY HYPERTENSION, PRIMARY, 4

0.800

GeneticVariation

UNIPROT

A novel channelopathy in pulmonary arterial hypertension.

23883380

2013

dbSNP:

rs11126666

Entrez Id:	3777
Gene Symbol:	KCNK3

KCNK3

CUI:	C1305855
Disease:

Body mass index

0.700

GeneticVariation

GWASCAT

Genetic studies of body mass index yield new insights for obesity biology.

25673413

2015

dbSNP:

rs1275988

Entrez Id:	3777
Gene Symbol:	KCNK3

KCNK3

CUI:	C0428886
Disease:

Mean blood pressure

0.700

GeneticVariation

GWASCAT

Trans-ancestry genome-wide association study identifies 12 genetic loci influencing blood pressure and implicates a role for DNA methylation.

26390057

2015

dbSNP:

rs3739081

Entrez Id:	3777
Gene Symbol:	KCNK3

KCNK3

CUI:	C1305855
Disease:

Body mass index

0.700

GeneticVariation

GWASCAT

The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study.

26426971

2015

dbSNP:

rs2586886

Entrez Id:	3777
Gene Symbol:	KCNK3

KCNK3

CUI:	C0871470
Disease:

Systolic Pressure

0.700

GeneticVariation

GWASCAT

The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals.

27618452

2016

dbSNP:

rs2586886

Entrez Id:	3777
Gene Symbol:	KCNK3

KCNK3

CUI:	C0428883
Disease:

Diastolic blood pressure

0.700

GeneticVariation

GWASCAT

The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals.

27618452

2016

dbSNP:

rs2586886

Entrez Id:	3777
Gene Symbol:	KCNK3

KCNK3

CUI:	C0428883
Disease:

Diastolic blood pressure

0.700

GeneticVariation

GWASCAT

The most significant diastolic blood pressure variant identified in our analysis, rs2586886/KCNK3 (P = 5.2 x 10-9), also replicated in independent Hispanic and European-descent samples.

27736895

2016

dbSNP:

rs1275988

Entrez Id:	3777
Gene Symbol:	KCNK3

KCNK3

CUI:	C0871470
Disease:

Systolic Pressure

0.700

GeneticVariation

GWASCAT

Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation.

27841878

2017

dbSNP:

rs1275988

Entrez Id:	3777
Gene Symbol:	KCNK3

KCNK3

CUI:	C0428883
Disease:

Diastolic blood pressure

0.700

GeneticVariation

GWASCAT

Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation.

27841878

2017

dbSNP:

rs1275988

Entrez Id:	3777
Gene Symbol:	KCNK3

KCNK3

CUI:	C0428883
Disease:

Diastolic blood pressure

0.700

GeneticVariation

GWASCAT

Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney.

28739976

2017

dbSNP:

rs1275988

Entrez Id:	3777
Gene Symbol:	KCNK3

KCNK3

CUI:	C0871470
Disease:

Systolic Pressure

0.700

GeneticVariation

GWASCAT

Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney.

28739976

2017

dbSNP:

rs11126666

Entrez Id:	3777
Gene Symbol:	KCNK3

KCNK3

CUI:	C1305855
Disease:

Body mass index

0.700

GeneticVariation

GWASCAT

Genome-wide association study identifies 112 new loci for body mass index in the Japanese population.

28892062

2017

dbSNP:

rs1275980

Entrez Id:	3777
Gene Symbol:	KCNK3

KCNK3

CUI:	C0202194
Disease:

Potassium measurement

0.700

GeneticVariation

GWASCAT

Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

29403010

2018

dbSNP:

rs1731249

Entrez Id:	3777
Gene Symbol:	KCNK3

KCNK3

CUI:	C0871470
Disease:

Systolic Pressure

0.700

GeneticVariation

GWASCAT

Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

29403010

2018

dbSNP:

rs35021474

Entrez Id:	3777
Gene Symbol:	KCNK3

KCNK3

CUI:	C0428883
Disease:

Diastolic blood pressure

0.700

GeneticVariation

GWASCAT

Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

29403010

2018

dbSNP:

rs35021474

Entrez Id:	3777
Gene Symbol:	KCNK3

KCNK3

CUI:	C0428886
Disease:

Mean blood pressure

0.700

GeneticVariation

GWASCAT

Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

29403010

2018

dbSNP:

rs1275988

Entrez Id:	3777
Gene Symbol:	KCNK3

KCNK3

CUI:	C0428883
Disease:

Diastolic blood pressure

0.700

GeneticVariation

GWASCAT

A Large-Scale Multi-ancestry Genome-wide Study Accounting for Smoking Behavior Identifies Multiple Significant Loci for Blood Pressure.

29455858

2018