DisGeNET - a database of gene-disease associations

KCNV2, potassium voltage-gated channel modifier subfamily V member 2, 169522

N. diseases: 19; N. variants: 15

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:

rs104894115

Entrez Id:	9933;169522
Gene Symbol:	PUM3;KCNV2

PUM3;KCNV2

CUI:	C1835897
Disease:

Retinal Cone Dystrophy 3B

0.800

GeneticVariation

UNIPROT

"Mutations in the gene KCNV2 encoding a voltage-gated potassium channel subunit cause ""cone dystrophy with supernormal rod electroretinogram"" in humans."

16909397

2006

dbSNP:

rs104894116

Entrez Id:	169522
Gene Symbol:	KCNV2

KCNV2

CUI:	C1835897
Disease:

Retinal Cone Dystrophy 3B

0.800

GeneticVariation

UNIPROT

"Mutations in the gene KCNV2 encoding a voltage-gated potassium channel subunit cause ""cone dystrophy with supernormal rod electroretinogram"" in humans."

16909397

2006

dbSNP:

rs104894115

Entrez Id:	9933;169522
Gene Symbol:	PUM3;KCNV2

PUM3;KCNV2

CUI:	C1835897
Disease:

Retinal Cone Dystrophy 3B

0.800

CausalMutation

CLINVAR

dbSNP:

rs104894116

Entrez Id:	169522
Gene Symbol:	KCNV2

KCNV2

CUI:	C1835897
Disease:

Retinal Cone Dystrophy 3B

0.800

CausalMutation

CLINVAR

dbSNP:

rs1402837406

Entrez Id:	169522
Gene Symbol:	KCNV2

KCNV2

CUI:	C1855465
Disease:

STARGARDT DISEASE 1 (disorder)

0.700

CausalMutation

CLINVAR

Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

30718709

2019

dbSNP:

rs1402837406

Entrez Id:	169522
Gene Symbol:	KCNV2

KCNV2

CUI:	C0271092
Disease:

Progressive cone dystrophy (without rod involvement)

0.700

CausalMutation

CLINVAR

Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

30718709

2019

dbSNP:

rs149648640

Entrez Id:	9933;169522
Gene Symbol:	PUM3;KCNV2

PUM3;KCNV2

CUI:	C1835897
Disease:

Retinal Cone Dystrophy 3B

0.700

CausalMutation

CLINVAR

Molecular characteristics of four Japanese cases with KCNV2 retinopathy: report of novel disease-causing variants.

23885164

2013

dbSNP:

rs149648640

Entrez Id:	9933;169522
Gene Symbol:	PUM3;KCNV2

PUM3;KCNV2

CUI:	C1835897
Disease:

Retinal Cone Dystrophy 3B

0.700

CausalMutation

CLINVAR

Functional analysis of missense mutations in Kv8.2 causing cone dystrophy with supernormal rod electroretinogram.

23115240

2012

dbSNP:

rs149648640

Entrez Id:	9933;169522
Gene Symbol:	PUM3;KCNV2

PUM3;KCNV2

CUI:	C1835897
Disease:

Retinal Cone Dystrophy 3B

0.700

CausalMutation

CLINVAR

Long-term follow-up of the human phenotype in three siblings with cone dystrophy associated with a homozygous p.G461R mutation of KCNV2.

21911584

2011

dbSNP:

rs149648640

Entrez Id:	9933;169522
Gene Symbol:	PUM3;KCNV2

PUM3;KCNV2

CUI:	C1835897
Disease:

Retinal Cone Dystrophy 3B

0.700

CausalMutation

CLINVAR

Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod response.

21882291

2011

dbSNP:

rs786205121

Entrez Id:	169522
Gene Symbol:	KCNV2

KCNV2

CUI:	C0854723
Disease:

Retinal Dystrophies

0.700

CausalMutation

CLINVAR

Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod response.

21882291

2011

dbSNP:

rs149648640

Entrez Id:	9933;169522
Gene Symbol:	PUM3;KCNV2

PUM3;KCNV2

CUI:	C1835897
Disease:

Retinal Cone Dystrophy 3B

0.700

CausalMutation

CLINVAR

Cone dystrophy with supernormal rod response is strictly associated with mutations in KCNV2.

18235024

2008

dbSNP:

rs776275880

Entrez Id:	169522
Gene Symbol:	KCNV2

KCNV2

CUI:	C1835897
Disease:

Retinal Cone Dystrophy 3B

0.700

GeneticVariation

UNIPROT

"Mutations in the gene KCNV2 encoding a voltage-gated potassium channel subunit cause ""cone dystrophy with supernormal rod electroretinogram"" in humans."

16909397

2006

dbSNP:

rs104894113

Entrez Id:	169522
Gene Symbol:	KCNV2

KCNV2

CUI:	C1835897
Disease:

Retinal Cone Dystrophy 3B

0.700

CausalMutation

CLINVAR

dbSNP:

rs104894114

Entrez Id:	169522
Gene Symbol:	KCNV2

KCNV2

CUI:	C1835897
Disease:

Retinal Cone Dystrophy 3B

0.700

CausalMutation

CLINVAR

dbSNP:

rs140256288

Entrez Id:	169522
Gene Symbol:	KCNV2

KCNV2

CUI:	C1835897
Disease:

Retinal Cone Dystrophy 3B

0.700

CausalMutation

CLINVAR

dbSNP:

rs1402837406

Entrez Id:	169522
Gene Symbol:	KCNV2

KCNV2

CUI:	C1835897
Disease:

Retinal Cone Dystrophy 3B

0.700

CausalMutation

CLINVAR

dbSNP:

rs1554628460

Entrez Id:	169522
Gene Symbol:	KCNV2

KCNV2

CUI:	C0854723
Disease:

Retinal Dystrophies

CCCGTTCCGGCTCCCAGGCCAGCATCCACGGCTGGACAGAGGGCAACTATAACTACTACATCGAGGAAGACGAAGACGGCGAGGAGGAGGACCAGTGGAAGGACGACCTGGCAGAAGAGGACCAGCAGGCAGGGGAGGTCACCACCGCCAAGCCCGAGGGCCCCAGCGACCCTCCGGCCCTGCTGT

0.700

GeneticVariation

CLINVAR

dbSNP:

rs387907302

Entrez Id:	169522
Gene Symbol:	KCNV2

KCNV2

CUI:	C1835897
Disease:

Retinal Cone Dystrophy 3B

0.700

CausalMutation

CLINVAR

dbSNP:

rs397514604

Entrez Id:	169522
Gene Symbol:	KCNV2

KCNV2

CUI:	C1835897
Disease:

Retinal Cone Dystrophy 3B

0.700

CausalMutation

CLINVAR

dbSNP:

rs772921412

Entrez Id:	169522
Gene Symbol:	KCNV2

KCNV2

CUI:	C1835897
Disease:

Retinal Cone Dystrophy 3B

0.700

GeneticVariation

UNIPROT

dbSNP:

rs786205064

Entrez Id:	169522
Gene Symbol:	KCNV2

KCNV2

CUI:	C1835897
Disease:

Retinal Cone Dystrophy 3B

0.700

CausalMutation

CLINVAR

dbSNP:

rs786205121

Entrez Id:	169522
Gene Symbol:	KCNV2

KCNV2

CUI:	C1835897
Disease:

Retinal Cone Dystrophy 3B

0.700

CausalMutation

CLINVAR

dbSNP:

rs977790637

Entrez Id:	169522
Gene Symbol:	KCNV2

KCNV2

CUI:	C0854723
Disease:

Retinal Dystrophies

0.700

GeneticVariation

CLINVAR

dbSNP:

rs149648640

Entrez Id:	9933;169522
Gene Symbol:	PUM3;KCNV2

PUM3;KCNV2

CUI:	C0730290
Disease:

Cone Dystrophy

0.010

GeneticVariation

BEFREE

Long-term follow-up of the human phenotype in three siblings with cone dystrophy associated with a homozygous p.G461R mutation of KCNV2.

21911584

2011