Disease: Abnormal bone formation ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0231557
Disease: Abnormal bone formation
Abnormal bone formation 		0.020 GeneticVariation disease BEFREE SMD Kozlowski type caused by p.Arg594His substitution in TRPV4 reveals abnormal ossification and notochordal remnants in discs and vertebrae. 28687525 2017
CUI: C0231557
Disease: Abnormal bone formation
Abnormal bone formation 		0.020 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