Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias
0.470 GeneticVariation group BEFREE Metatropic dysplasia is a rare osteochondrodysplasia due to mutations in the TRPV4 gene: TRPV4 is a cation channel, non-selectively permeable to calcium, encoded by a gene on chromosome 12q24.11; it is widely expressed and involved in many different physiological processes through responses to several different stimuli (physical, chemical, and hormonal) in ciliated epithelial cells. 28414187 2017
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias
0.470 GeneticVariation group BEFREE Over 50 TRPV4 mutations are now known to cause heritable skeletal dysplasia (SD) and other diseases in human. 26170305 2015
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias
0.470 GeneticVariation group BEFREE Taken together, these data strongly support that up-regulation of FST in chondrocytes by skeletal dysplasia-inducing TRPV4 mutations contributes to disease pathogenesis. 24577120 2014
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias
0.470 GeneticVariation group BEFREE Finally, a small number of patients have been identified in whom a TRPV4 mutation results in a phenotype combining skeletal dysplasia with peripheral neuropathy. 22791502 2012
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias
0.470 Biomarker group BEFREE TRPV4-pathy manifesting both skeletal dysplasia and peripheral neuropathy: a report of three patients. 22419508 2012
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias
0.470 Biomarker group BEFREE Human skeletal dysplasia caused by a constitutive activated transient receptor potential vanilloid 4 (TRPV4) cation channel mutation. 23143559 2012
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias
0.470 AlteredExpression group BEFREE Thus, while other factors are at play, our results are consistent with the increased TRPV4 basal activity being a critical determinant of the severity of skeletal dysplasia. 21573172 2011
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias
0.470 Biomarker group CTD_human Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia. 18587396 2008
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias
0.470 Biomarker group HPO