Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3150077
Disease: Mild short stature
Mild short stature
0.100 CausalMutation phenotype 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