DisGeNET - a database of gene-disease associations

TRPV4, transient receptor potential cation channel subfamily V member 4, 59341

N. diseases: 422; N. variants: 56

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:

rs121912632

Entrez Id:	59341
Gene Symbol:	TRPV4

TRPV4

CUI:	C0432227
Disease:

Brachyolmia Type 3

0.810

GeneticVariation

BEFREE

The purpose of this study was to describe a large Swedish family with brachyolmia type 3 due to a heterozygous TRPV4 mutation c.1847G>A (p.R616Q) in 11 individuals.

24677493

2014

dbSNP:

rs387906905

Entrez Id:	59341
Gene Symbol:	TRPV4

TRPV4

CUI:	C1853710
Disease:

HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder)

0.810

CausalMutation

CLINVAR

Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects.

24319099

2014

dbSNP:

rs387906905

Entrez Id:	59341
Gene Symbol:	TRPV4

TRPV4

CUI:	C1853710
Disease:

HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder)

0.810

GeneticVariation

UNIPROT

TRPV4 channel activity is modulated by direct interaction of the ankyrin domain to PI(4,5)P₂.

25256292

2014

dbSNP:

rs387906905

Entrez Id:	59341
Gene Symbol:	TRPV4

TRPV4

CUI:	C1853710
Disease:

HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder)

0.810

CausalMutation

CLINVAR

Phenotypic spectrum and incidence of TRPV4 mutations in patients with inherited axonal neuropathy.

24789864

2014

dbSNP:

rs387906905

Entrez Id:	59341
Gene Symbol:	TRPV4

TRPV4

CUI:	C1853710
Disease:

HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder)

0.810

GeneticVariation

UNIPROT

Structural and biochemical consequences of disease-causing mutations in the ankyrin repeat domain of the human TRPV4 channel.

22702953

2012

dbSNP:

rs387906905

Entrez Id:	59341
Gene Symbol:	TRPV4

TRPV4

CUI:	C1853710
Disease:

HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder)

0.810

CausalMutation

CLINVAR

The R316H is a novel de novo mutation found in a patient with CMT2C phenotype.

21288981

2011

dbSNP:

rs387906905

Entrez Id:	59341
Gene Symbol:	TRPV4

TRPV4

CUI:	C1853710
Disease:

HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder)

0.810

GeneticVariation

BEFREE

The R316H is a novel de novo mutation found in a patient with CMT2C phenotype.

21288981

2011

dbSNP:

rs387906905

Entrez Id:	59341
Gene Symbol:	TRPV4

TRPV4

CUI:	C1853710
Disease:

HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder)

0.810

CausalMutation

CLINVAR

Mutant TRPV4-mediated toxicity is linked to increased constitutive function in axonal neuropathies.

21454511

2011

dbSNP:

rs387906905

Entrez Id:	59341
Gene Symbol:	TRPV4

TRPV4

CUI:	C1853710
Disease:

HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder)

0.810

GeneticVariation

UNIPROT

The R316H is a novel de novo mutation found in a patient with CMT2C phenotype.

21288981

2011

dbSNP:

rs387906905

Entrez Id:	59341
Gene Symbol:	TRPV4

TRPV4

CUI:	C1853710
Disease:

HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder)

0.810

CausalMutation

CLINVAR

Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4.

20037587

2010

dbSNP:

rs387906905

Entrez Id:	59341
Gene Symbol:	TRPV4

TRPV4

CUI:	C1853710
Disease:

HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder)

0.810

GeneticVariation

UNIPROT

Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C.

20037586

2010

dbSNP:

rs387906905

Entrez Id:	59341
Gene Symbol:	TRPV4

TRPV4

CUI:	C1853710
Disease:

HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder)

0.810

CausalMutation

CLINVAR

Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C.

20037588

2010

dbSNP:

rs387906905

Entrez Id:	59341
Gene Symbol:	TRPV4

TRPV4

CUI:	C1853710
Disease:

HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder)

0.810

GeneticVariation

UNIPROT

Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4.

20037587

2010

dbSNP:

rs387906905

Entrez Id:	59341
Gene Symbol:	TRPV4

TRPV4

CUI:	C1853710
Disease:

HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder)

0.810

GeneticVariation

UNIPROT

CMT2C with vocal cord paresis associated with short stature and mutations in the TRPV4 gene.

21115951

2010

dbSNP:

rs387906905

Entrez Id:	59341
Gene Symbol:	TRPV4

TRPV4

CUI:	C1853710
Disease:

HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder)

0.810

GeneticVariation

UNIPROT

Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C.

20037588

2010

dbSNP:

rs121912632

Entrez Id:	59341
Gene Symbol:	TRPV4

TRPV4

CUI:	C0432227
Disease:

Brachyolmia Type 3

0.810

GeneticVariation

UNIPROT

Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia.

18587396

2008

dbSNP:

rs121912632

Entrez Id:	59341
Gene Symbol:	TRPV4

TRPV4

CUI:	C0432227
Disease:

Brachyolmia Type 3

0.810

CausalMutation

CLINVAR

dbSNP:

rs267607146

Entrez Id:	59341
Gene Symbol:	TRPV4

TRPV4

CUI:	C1853710
Disease:

HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder)

0.800

CausalMutation

CLINVAR

TRPV4 related scapuloperoneal spinal muscular atrophy: Report of an Italian family and review of the literature.

26948711

2017

dbSNP:

rs267607146

Entrez Id:	59341
Gene Symbol:	TRPV4

TRPV4

CUI:	C1853710
Disease:

HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder)

0.800

CausalMutation

CLINVAR

A case of congenital spinal muscular atrophy with pain due to a mutation in TRPV4.

27751652

2016

dbSNP:

rs121912636

Entrez Id:	59341
Gene Symbol:	TRPV4

TRPV4

CUI:	C0265281
Disease:

Metatropic dwarfism

0.800

GeneticVariation

UNIPROT

A mutation in TRPV4 results in altered chondrocyte calcium signaling in severe metatropic dysplasia.

26249260

2015

dbSNP:

rs121912637

Entrez Id:	59341
Gene Symbol:	TRPV4

TRPV4

CUI:	C0265281
Disease:

Metatropic dwarfism

0.800

GeneticVariation

UNIPROT

A mutation in TRPV4 results in altered chondrocyte calcium signaling in severe metatropic dysplasia.

26249260

2015

dbSNP:

rs267607144

Entrez Id:	59341
Gene Symbol:	TRPV4

TRPV4

CUI:	C1853710
Disease:

HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder)

0.800

CausalMutation

CLINVAR

Phenotypic variability of TRPV4 related neuropathies.

25900305

2015

dbSNP:

rs267607146

Entrez Id:	59341
Gene Symbol:	TRPV4

TRPV4

CUI:	C1853710
Disease:

HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder)

0.800

CausalMutation

CLINVAR

Long-Term Observations in an Affected Family with Neurogenic Scapuloperoneal Syndrome Caused by Mutation R269C in the TRPV4 Gene.

26110311

2015

dbSNP:

rs267607146

Entrez Id:	59341
Gene Symbol:	TRPV4

TRPV4

CUI:	C1853710
Disease:

HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder)

0.800

CausalMutation

CLINVAR

Phenotypic variability of TRPV4 related neuropathies.

25900305

2015

dbSNP:

rs267607147

Entrez Id:	59341
Gene Symbol:	TRPV4

TRPV4

CUI:	C0265281
Disease:

Metatropic dwarfism

0.800

GeneticVariation

UNIPROT

A mutation in TRPV4 results in altered chondrocyte calcium signaling in severe metatropic dysplasia.

26249260

2015