rs121912636, TRPV4

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Metatropic dwarfism
CUI: C0265281
Disease: Metatropic dwarfism
0.800 GeneticVariation UNIPROT A mutation in TRPV4 results in altered chondrocyte calcium signaling in severe metatropic dysplasia. 26249260 2015
Metatropic dwarfism
CUI: C0265281
Disease: Metatropic dwarfism
0.800 GeneticVariation UNIPROT Structural and biochemical consequences of disease-causing mutations in the ankyrin repeat domain of the human TRPV4 channel. 22702953 2012
Metatropic dwarfism
CUI: C0265281
Disease: Metatropic dwarfism
0.800 GeneticVariation UNIPROT Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family. 20577006 2010
Metatropic dwarfism
CUI: C0265281
Disease: Metatropic dwarfism
0.800 GeneticVariation UNIPROT Dominant TRPV4 mutations in nonlethal and lethal metatropic dysplasia. 20425821 2010
Metatropic dwarfism
CUI: C0265281
Disease: Metatropic dwarfism
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
Metatropic dwarfism
CUI: C0265281
Disease: Metatropic dwarfism
0.800 CausalMutation CLINVAR
Skeletal dysplasia
CUI: C0410528
Disease: Skeletal dysplasia
0.700 CausalMutation CLINVAR