Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
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0.730 | GeneticVariation | disease | BEFREE | Defects in TRPV4 are the cause of several human diseases, including brachyolmia type 3 (MIM:113500) (also known as brachyrachia or spondylometaphyseal dysplasia Kozlowski type [MIM:118452]), and metatropic dysplasia (MIM:156530) (also called metatropic dwarfism or parastremmatic dwarfism [MIM:168400]). | 23143559 | 2012 | ||||
|
0.730 | GeneticVariation | disease | UNIPROT | We conclude that SED Maroteaux type and parastremmatic dysplasia are part of the TRPV4 dysplasia family and that TRPV4 mutations show considerable variability in phenotypic expression resulting in distinct clinical-radiographic phenotypes. | 20503319 | 2010 | ||||
|
0.730 | 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 | ||||
|
0.730 | Biomarker | disease | GENOMICS_ENGLAND | |||||||
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0.730 | Biomarker | disease | CTD_human | |||||||
|
0.730 | Biomarker | disease | BEFREE | We conclude that SED Maroteaux type and parastremmatic dysplasia are part of the TRPV4 dysplasia family and that TRPV4 mutations show considerable variability in phenotypic expression resulting in distinct clinical-radiographic phenotypes. | 20503319 | 2010 | ||||
|
0.730 | CausalMutation | disease | CLINVAR | |||||||
|
0.730 | GermlineCausalMutation | disease | ORPHANET | We conclude that SED Maroteaux type and parastremmatic dysplasia are part of the TRPV4 dysplasia family and that TRPV4 mutations show considerable variability in phenotypic expression resulting in distinct clinical-radiographic phenotypes. | 20503319 | 2010 |