Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4
0.410 GeneticVariation disease BEFREE TRPV4 mutation was first identified in brachyolmia, and then in a spectrum of autosomal-dominant skeletal dysplasias, which includes Kozlowski type of spondylometaphyseal dysplasia, metatropic dysplasia, Maroteaux type of spondyloepiphyseal dysplasia and parastremmatic dysplasia. 20505684 2010
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4
0.410 Biomarker disease CTD_human Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia. 18587396 2008
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4
0.410 Biomarker disease HPO