DisGeNET - a database of gene-disease associations

CABCOCO1, ciliary associated calcium binding coiled-coil 1, 219621

N. diseases: 12; N. variants: 10

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:

rs2393831

Entrez Id:	219621
Gene Symbol:	CABCOCO1

CABCOCO1

CUI:	C0337443
Disease:

Sodium measurement

0.700

GeneticVariation

GWASCAT

GWAS for urinary sodium and potassium excretion highlights pathways shared with cardiovascular traits.

31409800

2019

dbSNP:

rs72831343

Entrez Id:	219621
Gene Symbol:	CABCOCO1

CABCOCO1

CUI:	C0871470
Disease:

Systolic Pressure

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs72831343

Entrez Id:	219621
Gene Symbol:	CABCOCO1

CABCOCO1

CUI:	C0007222
Disease:

Cardiovascular Diseases

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs72831344

Entrez Id:	219621
Gene Symbol:	CABCOCO1

CABCOCO1

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:

rs1530440

Entrez Id:	219621
Gene Symbol:	CABCOCO1

CABCOCO1

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:

rs1530440

Entrez Id:	219621
Gene Symbol:	CABCOCO1

CABCOCO1

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:

rs4590817

Entrez Id:	219621
Gene Symbol:	CABCOCO1

CABCOCO1

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:

rs4590817

Entrez Id:	219621
Gene Symbol:	CABCOCO1

CABCOCO1

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:

rs71507180

Entrez Id:	219621
Gene Symbol:	CABCOCO1

CABCOCO1

CUI:	C0596887
Disease:

mathematical ability

0.700

GeneticVariation

GWASCAT

Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.

30038396

2018

dbSNP:

rs72823804

Entrez Id:	219621
Gene Symbol:	CABCOCO1

CABCOCO1

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:

rs72823804

Entrez Id:	219621
Gene Symbol:	CABCOCO1

CABCOCO1

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:

rs72831345

Entrez Id:	219621
Gene Symbol:	CABCOCO1

CABCOCO1

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:

rs72831345

Entrez Id:	219621
Gene Symbol:	CABCOCO1

CABCOCO1

CUI:	C0428883
Disease:

Diastolic 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:

rs72831345

Entrez Id:	219621
Gene Symbol:	CABCOCO1

CABCOCO1

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:

rs72831345

Entrez Id:	219621
Gene Symbol:	CABCOCO1

CABCOCO1

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:

rs76781995

Entrez Id:	219621
Gene Symbol:	CABCOCO1

CABCOCO1

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:

rs76781995

Entrez Id:	219621
Gene Symbol:	CABCOCO1

CABCOCO1

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:

rs7922049

Entrez Id:	219621
Gene Symbol:	CABCOCO1

CABCOCO1

CUI:	C0428883
Disease:

Diastolic 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:

rs7922049

Entrez Id:	219621
Gene Symbol:	CABCOCO1

CABCOCO1

CUI:	C1305849
Disease:

Diastolic blood pressure measurement

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:

rs7922049

Entrez Id:	219621
Gene Symbol:	CABCOCO1

CABCOCO1

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:

rs1530440

Entrez Id:	219621
Gene Symbol:	CABCOCO1

CABCOCO1

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:

rs1530440

Entrez Id:	219621
Gene Symbol:	CABCOCO1

CABCOCO1

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:

rs4590817

Entrez Id:	219621
Gene Symbol:	CABCOCO1

CABCOCO1

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:

rs4590817

Entrez Id:	219621
Gene Symbol:	CABCOCO1

CABCOCO1

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:

rs1530440

Entrez Id:	219621
Gene Symbol:	CABCOCO1

CABCOCO1

CUI:	C0428886
Disease:

Mean blood pressure

0.700

GeneticVariation

GWASCAT

Meta-analysis identifies common and rare variants influencing blood pressure and overlapping with metabolic trait loci.

27618448

2016