Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly
0.300 Biomarker disease GENOMICS_ENGLAND Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations. 28288113 2017