DisGeNET - a database of gene-disease associations

KCNQ5, potassium voltage-gated channel subfamily Q member 5, 56479

N. diseases: 35; N. variants: 16

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:

rs1135401955

Entrez Id:	56479
Gene Symbol:	KCNQ5

KCNQ5

CUI:	C4539851
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 46

0.800

CausalMutation

CLINVAR

dbSNP:

rs1135401955

Entrez Id:	56479
Gene Symbol:	KCNQ5

KCNQ5

CUI:	C4539851
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 46

0.800

GeneticVariation

UNIPROT

dbSNP:

rs1135401956

Entrez Id:	56479
Gene Symbol:	KCNQ5

KCNQ5

CUI:	C4539851
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 46

0.800

CausalMutation

CLINVAR

dbSNP:

rs1135401956

Entrez Id:	56479
Gene Symbol:	KCNQ5

KCNQ5

CUI:	C4539851
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 46

0.800

GeneticVariation

UNIPROT

dbSNP:

rs1135401957

Entrez Id:	56479
Gene Symbol:	KCNQ5

KCNQ5

CUI:	C4539851
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 46

0.800

GeneticVariation

UNIPROT

dbSNP:

rs1135401957

Entrez Id:	56479
Gene Symbol:	KCNQ5

KCNQ5

CUI:	C4539851
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 46

0.800

CausalMutation

CLINVAR

dbSNP:

rs1135401958

Entrez Id:	56479
Gene Symbol:	KCNQ5

KCNQ5

CUI:	C4539851
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 46

0.800

CausalMutation

CLINVAR

dbSNP:

rs1135401958

Entrez Id:	56479
Gene Symbol:	KCNQ5

KCNQ5

CUI:	C4539851
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 46

0.800

GeneticVariation

UNIPROT

dbSNP:

rs7744813

Entrez Id:	56479
Gene Symbol:	KCNQ5

KCNQ5

CUI:	C0027092
Disease:

Myopia

0.710

GeneticVariation

BEFREE

The SNP rs7744813, previously shown to be associated with refractive error and myopia in two GWAS, showed an odds ratio of 0.75 (95% CI 0.63-0.90; <i>P</i><sub>emp</sub> = 0.0058) for the minor allele.

28884119

2017

dbSNP:

rs7744813

Entrez Id:	56479
Gene Symbol:	KCNQ5

KCNQ5

CUI:	C0027092
Disease:

Myopia

0.710

GeneticVariation

GWASCAT

Detection and interpretation of shared genetic influences on 42 human traits.

27182965

2016

dbSNP:

rs10498891

Entrez Id:	56479
Gene Symbol:	KCNQ5

KCNQ5

CUI:	C1305855
Disease:

Body mass index

0.700

GeneticVariation

GWASCAT

Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.

30239722

2019

dbSNP:

rs13206405

Entrez Id:	56479;105377855
Gene Symbol:	KCNQ5;LOC105377855

KCNQ5;LOC105377855

CUI:	C1518922
Disease:

peak expiratory flow (procedure)

0.700

GeneticVariation

GWASCAT

New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries.

30804560

2019

dbSNP:

rs7776021

Entrez Id:	56479
Gene Symbol:	KCNQ5

KCNQ5

CUI:	C1305855
Disease:

Body mass index

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs112348907

Entrez Id:	56479
Gene Symbol:	KCNQ5

KCNQ5

CUI:	C1269683
Disease:

Major Depressive Disorder

0.700

GeneticVariation

GWASCAT

Genome-wide association study of depression phenotypes in UK Biobank identifies variants in excitatory synaptic pathways.

29662059

2018

dbSNP:

rs947612

Entrez Id:	56479
Gene Symbol:	KCNQ5

KCNQ5

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:

rs947612

Entrez Id:	56479
Gene Symbol:	KCNQ5

KCNQ5

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:

rs7744813

Entrez Id:	56479
Gene Symbol:	KCNQ5

KCNQ5

CUI:	C0034951
Disease:

Refractive Errors

0.700

GeneticVariation

GWASDB

Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.

23396134

2013

dbSNP:

rs7744813

Entrez Id:	56479
Gene Symbol:	KCNQ5

KCNQ5

CUI:	C4025843
Disease:

Abnormality of refraction

0.700

GeneticVariation

GWASCAT

Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.

23396134

2013

dbSNP:

rs17729195

Entrez Id:	56479
Gene Symbol:	KCNQ5

KCNQ5

CUI:	C0004096
Disease:

Asthma

0.700

GeneticVariation

GWASDB

[Genome-wide association study of allergic diseases in Russians of Western Siberia].

21790008

2011

dbSNP:

rs1314919218

Entrez Id:	56479
Gene Symbol:	KCNQ5

KCNQ5

CUI:	C0009402
Disease:

Colorectal Carcinoma

0.700

GeneticVariation

UNIPROT

dbSNP:

rs9446777

Entrez Id:	56479
Gene Symbol:	KCNQ5

KCNQ5

CUI:	C0031099
Disease:

Periodontitis

0.010

GeneticVariation

BEFREE

Although single-nucleotide polymorphisms that surpassed a stringent genome-wide significance threshold (P < 5 × 10(-8)) were not identified, we found 2 suggestive loci for periodontitis: KCNQ5 on chromosome 6q13 (rs9446777, P = 4.83 × 10(-6), odds ratio = 0.82) and GPR141-NME8 at chromosome 7p14.1 (rs2392510, P = 4.17 × 10(-6), odds ratio = 0.87).

25672891

2015

dbSNP:

rs6907229

Entrez Id:	56479
Gene Symbol:	KCNQ5

KCNQ5

CUI:	C0010278
Disease:

Craniosynostosis

0.010

GeneticVariation

BEFREE

In addition to the top significant SNPs rs2917454 and rs6907229, imputation analysis uncovered additional genetic variants in KCNMA1 and in KCNQ5 that were associated with CRS.

24595210

2014

dbSNP:

rs9351963

Entrez Id:	56479
Gene Symbol:	KCNQ5

KCNQ5

CUI:	C0011991
Disease:

Diarrhea

0.010

GeneticVariation

BEFREE

These results suggest that rs9351963 in KCNQ5 is a possible predictive factor of incidence of diarrhea in cancer patients treated with irinotecan chemotherapy and for selecting chemotherapy regimens, such as irinotecan alone or a combination of irinotecan with a KCNQ5 opener.

25127363

2014

dbSNP:

rs960292283

Entrez Id:	56479
Gene Symbol:	KCNQ5

KCNQ5

CUI:	C0036341
Disease:

Schizophrenia

0.010

GeneticVariation

BEFREE

At least, the insufficiency of (N251S)-PIP5K2A to stimulate neuronal M channels may contribute to the clinical phenotype of schizophrenia.

18545987

2008