Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
0.130 GeneticVariation disease BEFREE Mutations of PIEZO2 gene have been reported to be associated with progressive scoliosis and impaired proprioception. 31513102 2020
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
0.130 GeneticVariation disease BEFREE A novel nonsense PIEZO2 mutation in a family with scoliosis and proprioceptive defect. 30578100 2019
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
0.130 GeneticVariation disease BEFREE Loss-of-function mutations in the human PIEZO2 gene cause an autosomal recessive syndrome of muscular atrophy with perinatal respiratory distress, arthrogryposis, and scoliosis. 28728825 2017
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
0.130 Biomarker disease HPO