rs267607148, TRPV4

N. diseases: 4
Disease: Spondylometaphyseal dysplasia, Kozlowski type ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Spondylometaphyseal dysplasia, Kozlowski type
CUI: C0265280
Disease: Spondylometaphyseal dysplasia, Kozlowski type
0.800 GeneticVariation UNIPROT Structural and biochemical consequences of disease-causing mutations in the ankyrin repeat domain of the human TRPV4 channel. 22702953 2012
Spondylometaphyseal dysplasia, Kozlowski type
CUI: C0265280
Disease: Spondylometaphyseal dysplasia, Kozlowski type
0.800 GeneticVariation UNIPROT Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family. 20577006 2010
Spondylometaphyseal dysplasia, Kozlowski type
CUI: C0265280
Disease: Spondylometaphyseal dysplasia, Kozlowski type
0.800 GeneticVariation UNIPROT Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia. 19232556 2009
Spondylometaphyseal dysplasia, Kozlowski type
CUI: C0265280
Disease: Spondylometaphyseal dysplasia, Kozlowski type
0.800 CausalMutation CLINVAR