Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265281
Disease: Metatropic dwarfism
Metatropic dwarfism 		0.800 GeneticVariation disease BEFREE Our findings recorded metatropic dysplasia with the c.2396C > T mutation in the TRPV4 gene in China. 31808622 2020
CUI: C0265281
Disease: Metatropic dwarfism
Metatropic dwarfism 		0.800 GeneticVariation disease BEFREE Metatropic dysplasia in third trimester of pregnancy and a novel causative variant in the TRPV4 gene. 28414187 2017
CUI: C0265281
Disease: Metatropic dwarfism
Metatropic dwarfism 		0.800 GeneticVariation disease BEFREE Somatic mosaicism for a lethal TRPV4 mutation results in non-lethal metatropic dysplasia. 27530454 2016
CUI: C0265281
Disease: Metatropic dwarfism
Metatropic dwarfism 		0.800 GeneticVariation disease BEFREE Metatropic Dysplasia with a Novel Mutation in TRPV4. 27567651 2016
CUI: C0265281
Disease: Metatropic dwarfism
Metatropic dwarfism 		0.800 GeneticVariation disease BEFREE A mutation in TRPV4 results in altered chondrocyte calcium signaling in severe metatropic dysplasia. 26249260 2015
CUI: C0265281
Disease: Metatropic dwarfism
Metatropic dwarfism 		0.800 GeneticVariation disease UNIPROT A mutation in TRPV4 results in altered chondrocyte calcium signaling in severe metatropic dysplasia. 26249260 2015
CUI: C0265281
Disease: Metatropic dwarfism
Metatropic dwarfism 		0.800 GeneticVariation disease BEFREE Overexpression of a mutant TRPV4 caused a lethal skeletal dysplasia that phenocopied many abnormalities associated with metatropic dysplasia in humans, including dumbbell-shaped long bones, a small ribcage, abnormalities in the autopod, and abnormal ossification in the vertebrae. 24644033 2014
CUI: C0265281
Disease: Metatropic dwarfism
Metatropic dwarfism 		0.800 GeneticVariation disease BEFREE To study early stages of aberrant cartilage formation in vitro, we generated the first induced pluripotent stem cells (iPSCs) from fibroblasts of an SD patient with a lethal form of metatropic dysplasia, caused by a dominant mutation (I604M) in the calcium channel gene TRPV4. 24559391 2014
CUI: C0265281
Disease: Metatropic dwarfism
Metatropic dwarfism 		0.800 GeneticVariation disease UNIPROT Structural and biochemical consequences of disease-causing mutations in the ankyrin repeat domain of the human TRPV4 channel. 22702953 2012
CUI: C0265281
Disease: Metatropic dwarfism
Metatropic dwarfism 		0.800 GermlineCausalMutation disease ORPHANET Over 50 different TRPV4 mutations have been reported, with two codons appearing to be mutational hot spots: P799 in exon 15, mostly associated with MD, and R594 in exon 11, associated with SMDK. 22791502 2012
CUI: C0265281
Disease: Metatropic dwarfism
Metatropic dwarfism 		0.800 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
CUI: C0265281
Disease: Metatropic dwarfism
Metatropic dwarfism 		0.800 GeneticVariation disease BEFREE Over 50 different TRPV4 mutations have been reported, with two codons appearing to be mutational hot spots: P799 in exon 15, mostly associated with MD, and R594 in exon 11, associated with SMDK. 22791502 2012
CUI: C0265281
Disease: Metatropic dwarfism
Metatropic dwarfism 		0.800 GeneticVariation disease BEFREE Dominant mutations in the receptor calcium channel gene TRPV4 have been associated with a family of skeletal dysplasias (metatropic dysplasia, pseudo-Morquio type 2, spondylometaphyseal dysplasia, Kozlowski type, brachyolmia, and familial digital arthropathy) as well as with dominantly inherited neuropathies (hereditary motor and sensory neuropathy 2C, scapuloperoneal spinal muscular atrophy, and congenital distal spinal muscular atrophy). 21964829 2011
CUI: C0265281
Disease: Metatropic dwarfism
Metatropic dwarfism 		0.800 CausalMutation disease CLINVAR Dominant mutations in the gene encoding TRPV4, a calcium permeable ion channel, were identified all 10 of a series of metatropic dysplasia cases, ranging in severity from mild to perinatal lethal. 20425821 2010
CUI: C0265281
Disease: Metatropic dwarfism
Metatropic dwarfism 		0.800 GeneticVariation disease UNIPROT In MD, a recurrent P799L mutation was identified in nine subjects, as well as 10 novel mutations including F471del, the first deletion mutation of TRPV4. 20577006 2010
CUI: C0265281
Disease: Metatropic dwarfism
Metatropic dwarfism 		0.800 GeneticVariation disease BEFREE TRPV4 mutations were found in all but one MD subject. 20577006 2010
CUI: C0265281
Disease: Metatropic dwarfism
Metatropic dwarfism 		0.800 GeneticVariation disease UNIPROT Dominant mutations in the gene encoding TRPV4, a calcium permeable ion channel, were identified all 10 of a series of metatropic dysplasia cases, ranging in severity from mild to perinatal lethal. 20425821 2010
CUI: C0265281
Disease: Metatropic dwarfism
Metatropic dwarfism 		0.800 GeneticVariation disease BEFREE Dominant TRPV4 mutations in nonlethal and lethal metatropic dysplasia. 20425821 2010
CUI: C0265281
Disease: Metatropic dwarfism
Metatropic dwarfism 		0.800 GeneticVariation disease BEFREE All six patients were found to have heterozygous TRPV4 mutations; three patients had unreported mutations, while three patients had mutations previously described in association with metatropic dysplasia. 20503319 2010
CUI: C0265281
Disease: Metatropic dwarfism
Metatropic dwarfism 		0.800 Biomarker disease CTD_human Dominant mutations in the gene encoding TRPV4, a calcium permeable ion channel, were identified all 10 of a series of metatropic dysplasia cases, ranging in severity from mild to perinatal lethal. 20425821 2010
CUI: C0265281
Disease: Metatropic dwarfism
Metatropic dwarfism 		0.800 CausalMutation disease CLINVAR In MD, a recurrent P799L mutation was identified in nine subjects, as well as 10 novel mutations including F471del, the first deletion mutation of TRPV4. 20577006 2010
CUI: C0265281
Disease: Metatropic dwarfism
Metatropic dwarfism 		0.800 GeneticVariation disease UNIPROT Because of some similar radiographic features between SMDK and metatropic dysplasia, TRPV4 was tested as a disease gene for nonlethal metatropic dysplasia. 19232556 2009
CUI: C0265281
Disease: Metatropic dwarfism
Metatropic dwarfism 		0.800 Biomarker disease BEFREE Because of some similar radiographic features between SMDK and metatropic dysplasia, TRPV4 was tested as a disease gene for nonlethal metatropic dysplasia. 19232556 2009
CUI: C0265281
Disease: Metatropic dwarfism
Metatropic dwarfism 		0.800 CausalMutation disease CLINVAR Because of some similar radiographic features between SMDK and metatropic dysplasia, TRPV4 was tested as a disease gene for nonlethal metatropic dysplasia. 19232556 2009
CUI: C0265281
Disease: Metatropic dwarfism
Metatropic dwarfism 		0.800 Biomarker disease GENOMICS_ENGLAND Because of some similar radiographic features between SMDK and metatropic dysplasia, TRPV4 was tested as a disease gene for nonlethal metatropic dysplasia. 19232556 2009