rs781986930, CCN6

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
0.700 CausalMutation CLINVAR WISP3 mutation associated with pseudorheumatoid dysplasia. 29092958 2018
Progressive pseudorheumatoid dysplasia
CUI: C0432215
Disease: Progressive pseudorheumatoid dysplasia
0.700 CausalMutation CLINVAR WISP3 mutational analysis in Indian patients diagnosed with progressive pseudorheumatoid dysplasia and report of a novel mutation at p.Y198. 27436824 2016
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
0.700 CausalMutation CLINVAR Novel and recurrent mutations in WISP3 and an atypical phenotype. 25988854 2015
Progressive pseudorheumatoid dysplasia
CUI: C0432215
Disease: Progressive pseudorheumatoid dysplasia
0.700 CausalMutation CLINVAR Novel and recurrent mutations in WISP3 and an atypical phenotype. 25988854 2015
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
0.700 CausalMutation CLINVAR A descriptive analysis of 14 cases of progressive-psuedorheumatoid-arthropathy of childhood from south India: review of literature in comparison with juvenile idiopathic arthritis. 23270760 2013
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
0.700 CausalMutation CLINVAR The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): a review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals. 22791401 2012
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
0.700 CausalMutation CLINVAR Analysis of the WISP3 gene in Indian families with progressive pseudorheumatoid dysplasia. 22987568 2012
Progressive pseudorheumatoid dysplasia
CUI: C0432215
Disease: Progressive pseudorheumatoid dysplasia
0.700 CausalMutation CLINVAR Analysis of the WISP3 gene in Indian families with progressive pseudorheumatoid dysplasia. 22987568 2012