Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4072872
Disease: obsolete Rod-cone dystrophy
obsolete Rod-cone dystrophy
0.100 CausalMutation disease CLINVAR A Next Generation Sequencing custom gene panel as first line diagnostic tool for atypical cases of syndromic obesity: Application in a case of Alström syndrome. 29079548 2018