RYR1, ryanodine receptor 1, 6261

N. diseases: 34; N. variants: 121
Disease: Arthrogryposis ×
Source: CLINVAR ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.130 CausalMutation disease CLINVAR The genomic and clinical landscape of fetal akinesia. 31680123 2020
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.130 GeneticVariation disease CLINVAR The genomic and clinical landscape of fetal akinesia. 31680123 2020