Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0349588
Disease: Short stature
Short stature
0.100 CausalMutation phenotype CLINVAR Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations. 28288113 2017
CUI: C0349588
Disease: Short stature
Short stature
0.100 Biomarker phenotype HPO