Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4
0.060 Biomarker disease BEFREE Our data extend the spectrum of TRPV4 channelopathies and provide rationale for the use of TRPV4 and RAS/MAPK antagonists at the bedside in GCLJ. 30385747 2018
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4
0.060 AlteredExpression disease BEFREE A channelopathy mechanism revealed by direct calmodulin activation of TrpV4. 26170305 2015
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4
0.060 GeneticVariation disease BEFREE The human TRPV4(V620I) channelopathy mutation was transfected into primary porcine chondrocytes and caused significant (2.6-fold) up-regulation of follistatin (FST) expression levels. 24577120 2014
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4
0.060 Biomarker disease BEFREE In this review, we describe the phenotypes of TRPV4 channelopathies and overlapping symptoms. 23306656 2013
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4
0.060 Biomarker disease BEFREE TRPV4-mediated channelopathies. 20676052 2011
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4
0.060 GeneticVariation disease BEFREE In summary, we describe a new hereditary channelopathy caused by mutations in TRPV4 and present evidence that the resulting substitutions in the N-terminal ankyrin domain affect channel maturation, leading to reduced surface expression of functional TRPV4 channels. 20037588 2010