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:

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:

rs12476527

Entrez Id:	3777
Gene Symbol:	KCNK3

KCNK3

CUI:	C0871470
Disease:

Systolic Pressure

0.700

GeneticVariation

GWASCAT

Trans-ethnic association study of blood pressure determinants in over 750,000 individuals.

30578418

2019

dbSNP:

rs1275988

Entrez Id:	3777
Gene Symbol:	KCNK3

KCNK3

CUI:	C0007222
Disease:

Cardiovascular Diseases

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs1731259

Entrez Id:	3777
Gene Symbol:	KCNK3

KCNK3

CUI:	C1305855
Disease:

Body mass index

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs2586886

Entrez Id:	3777
Gene Symbol:	KCNK3

KCNK3

CUI:	C0428883
Disease:

Diastolic blood pressure

0.700

GeneticVariation

GWASCAT

Genetic analyses of diverse populations improves discovery for complex traits.

31217584

2019

dbSNP:

rs11126666

Entrez Id:	3777
Gene Symbol:	KCNK3

KCNK3

CUI:	C1305855
Disease:

Body mass index

0.700

GeneticVariation

GWASCAT

A Large Multiethnic Genome-Wide Association Study of Adult Body Mass Index Identifies Novel Loci.

30108127

2018

dbSNP:

rs12476527

Entrez Id:	3777
Gene Symbol:	KCNK3

KCNK3

CUI:	C0038454
Disease:

Cerebrovascular accident

0.700

GeneticVariation

GWASCAT

Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes.

29531354

2018

dbSNP:

rs12476527

Entrez Id:	3777
Gene Symbol:	KCNK3

KCNK3

CUI:	C0948008
Disease:

Ischemic stroke

0.700

GeneticVariation

GWASCAT

Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes.

29531354

2018

dbSNP:

rs1275923

Entrez Id:	3777
Gene Symbol:	KCNK3

KCNK3

CUI:	C0871470
Disease:

Systolic Pressure

0.700

GeneticVariation

GWASCAT

Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries.

29912962

2018

dbSNP:

rs1275923

Entrez Id:	3777
Gene Symbol:	KCNK3

KCNK3

CUI:	C0001948
Disease:

Alcohol consumption

0.700

GeneticVariation

GWASCAT

Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries.

29912962

2018

dbSNP:

rs1275978

Entrez Id:	3777
Gene Symbol:	KCNK3

KCNK3

CUI:	C0428886
Disease:

Mean blood pressure

0.700

GeneticVariation

GWASCAT

Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries.

29912962

2018

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:

rs1275982

Entrez Id:	3777
Gene Symbol:	KCNK3

KCNK3

CUI:	C0428883
Disease:

Diastolic blood pressure

0.700

GeneticVariation

GWASCAT

Interethnic analyses of blood pressure loci in populations of East Asian and European descent.

30487518

2018

dbSNP:

rs1275982

Entrez Id:	3777
Gene Symbol:	KCNK3

KCNK3

CUI:	C0871470
Disease:

Systolic Pressure

0.700

GeneticVariation

GWASCAT

Interethnic analyses of blood pressure loci in populations of East Asian and European descent.

30487518

2018

dbSNP:

rs1275982

Entrez Id:	3777
Gene Symbol:	KCNK3

KCNK3

CUI:	C0428886
Disease:

Mean blood pressure

0.700

GeneticVariation

GWASCAT

Interethnic analyses of blood pressure loci in populations of East Asian and European descent.

30487518

2018

dbSNP:

rs1275988

Entrez Id:	3777
Gene Symbol:	KCNK3

KCNK3

CUI:	C0428883
Disease:

Diastolic blood pressure

0.700

GeneticVariation

GWASCAT

Interethnic analyses of blood pressure loci in populations of East Asian and European descent.

30487518

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

dbSNP:

rs1275988

Entrez Id:	3777
Gene Symbol:	KCNK3

KCNK3

CUI:	C0020538
Disease:

Hypertensive disease

0.700

GeneticVariation

GWASCAT

Interethnic analyses of blood pressure loci in populations of East Asian and European descent.

30487518

2018

dbSNP:

rs1275988

Entrez Id:	3777
Gene Symbol:	KCNK3

KCNK3

CUI:	C0428886
Disease:

Mean blood pressure

0.700

GeneticVariation

GWASCAT

Interethnic analyses of blood pressure loci in populations of East Asian and European descent.

30487518

2018

dbSNP:

rs1275988

Entrez Id:	3777
Gene Symbol:	KCNK3

KCNK3

CUI:	C0871470
Disease:

Systolic 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

dbSNP:

rs1275988

Entrez Id:	3777
Gene Symbol:	KCNK3

KCNK3

CUI:	C0871470
Disease:

Systolic Pressure

0.700

GeneticVariation

GWASCAT

Interethnic analyses of blood pressure loci in populations of East Asian and European descent.

30487518

2018

dbSNP:

rs1731243

Entrez Id:	3777
Gene Symbol:	KCNK3

KCNK3

CUI:	C0428886
Disease:

Mean blood pressure

0.700

GeneticVariation

GWASCAT

Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries.

29912962

2018

dbSNP:

rs1731243

Entrez Id:	3777
Gene Symbol:	KCNK3

KCNK3

CUI:	C0020538
Disease:

Hypertensive disease

0.700

GeneticVariation

GWASCAT

Interethnic analyses of blood pressure loci in populations of East Asian and European descent.

30487518

2018

dbSNP:

rs1731243

Entrez Id:	3777
Gene Symbol:	KCNK3

KCNK3

CUI:	C0001948
Disease:

Alcohol consumption

0.700

GeneticVariation

GWASCAT

Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries.

29912962

2018