Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
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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 | ||||
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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 | ||||
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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 | ||||
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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 | ||||
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0.470 | Biomarker | group | BEFREE | TRPV4-pathy manifesting both skeletal dysplasia and peripheral neuropathy: a report of three patients. | 22419508 | 2012 | ||||
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0.470 | Biomarker | group | BEFREE | Human skeletal dysplasia caused by a constitutive activated transient receptor potential vanilloid 4 (TRPV4) cation channel mutation. | 23143559 | 2012 | ||||
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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 | ||||
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0.470 | Biomarker | group | CTD_human | Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia. | 18587396 | 2008 | ||||
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0.470 | Biomarker | group | HPO |