Disease: Spondylometaphyseal dysplasia, Kozlowski type ×
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265280
Disease: Spondylometaphyseal dysplasia, Kozlowski type
Spondylometaphyseal dysplasia, Kozlowski type 		0.760 GeneticVariation disease UNIPROT Structural and biochemical consequences of disease-causing mutations in the ankyrin repeat domain of the human TRPV4 channel. 22702953 2012
CUI: C0265280
Disease: Spondylometaphyseal dysplasia, Kozlowski type
Spondylometaphyseal dysplasia, Kozlowski type 		0.760 GeneticVariation disease UNIPROT To examine TRPV4 mutation spectrum and phenotype-genotype association, we searched for TRPV4 mutations by PCR-direct sequencing from genomic DNA in 22 MD and 20 SMDK probands. 20577006 2010
CUI: C0265280
Disease: Spondylometaphyseal dysplasia, Kozlowski type
Spondylometaphyseal dysplasia, Kozlowski type 		0.760 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
CUI: C0265280
Disease: Spondylometaphyseal dysplasia, Kozlowski type
Spondylometaphyseal dysplasia, Kozlowski type 		0.760 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: C0265280
Disease: Spondylometaphyseal dysplasia, Kozlowski type
Spondylometaphyseal dysplasia, Kozlowski type 		0.760 Biomarker disease GENOMICS_ENGLAND
CUI: C0265280
Disease: Spondylometaphyseal dysplasia, Kozlowski type
Spondylometaphyseal dysplasia, Kozlowski type 		0.760 Biomarker disease CTD_human