Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 CausalMutation CLINVAR Compound heterozygous TRPV4 mutations in two siblings with a complex phenotype including severe intellectual disability and neuropathy. 28898540

2018

Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 CausalMutation CLINVAR Gain-of-function mutation in TRPV4 identified in patients with osteonecrosis of the femoral head. 27330106

2017

Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 CausalMutation CLINVAR A mutation in TRPV4 results in altered chondrocyte calcium signaling in severe metatropic dysplasia. 26249260

2016

Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 CausalMutation CLINVAR Phenotypic variability of TRPV4 related neuropathies. 25900305

2016

Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 CausalMutation CLINVAR Autosomal dominant brachyolmia in a large Swedish family: phenotypic spectrum and natural course. 24677493

2015

Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 CausalMutation CLINVAR TRPV4-associated skeletal dysplasias. 22791502

2013

Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 CausalMutation CLINVAR Comprehensive analysis of the TRPV4 gene in a large series of inherited neuropathies and controls. 22851605

2013

Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 CausalMutation CLINVAR TRPV4 mutations and cytotoxic hypercalcemia in axonal Charcot-Marie-Tooth neuropathies. 21288981

2011

Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 CausalMutation CLINVAR Mutations in TRPV4 cause an inherited arthropathy of hands and feet. 21964574

2011

Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 CausalMutation CLINVAR Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family. 20577006

2011

Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 CausalMutation CLINVAR CMT2C with vocal cord paresis associated with short stature and mutations in the TRPV4 gene. 21115951

2010

Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 CausalMutation CLINVAR Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4. 20037587

2010

Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 CausalMutation CLINVAR Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies. 20460441

2010

Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 CausalMutation CLINVAR Dominant TRPV4 mutations in nonlethal and lethal metatropic dysplasia. 20425821

2010

Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 CausalMutation CLINVAR Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations. 20503319

2010

Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 CausalMutation CLINVAR Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C. 20037586

2010

Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 CausalMutation CLINVAR Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C. 20037588

2010

Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 CausalMutation CLINVAR Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia. 19232556

2009

Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 CausalMutation CLINVAR Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia. 18587396

2008

Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 CausalMutation CLINVAR Spondyloepimetaphyseal dysplasia of Maroteaux (pseudo-Morquio type II syndrome): report of a new patient and review of the literature. 14755468

2004

Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 CausalMutation CLINVAR Familial digital arthropathy-brachydactyly. 11891693

2002

Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 CausalMutation CLINVAR A large New England kindred with autosomal dominant neurogenic scapuloperoneal amyotrophy with unique features. 1520078

1992

Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 CausalMutation CLINVAR A dominantly inherited lower motor neuron disorder presenting at birth with associated arthrogryposis. 4056805

1985

Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 CausalMutation CLINVAR Parastremmatic dwarfism. 956253

1976