Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.100 GeneticVariation CLINVAR Phenotypic spectrum and incidence of TRPV4 mutations in patients with inherited axonal neuropathy. 24789864

2014
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.100 GeneticVariation CLINVAR Structural and biochemical consequences of disease-causing mutations in the ankyrin repeat domain of the human TRPV4 channel. 22702953

2012
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.100 GeneticVariation 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: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.100 GeneticVariation CLINVAR Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C. 20037586

2010