Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0005941
Disease: Bone Diseases, Developmental
Bone Diseases, Developmental
0.310 Biomarker group BEFREE Relevant manuscripts published in English were searched using PubMed. aCML is diagnosed as per WHO 2016 classification in the presence of leukocytosis ≥13 × 109/l with circulating neutrophil precursors ≥10%, monocytes less than 10%, minimal basophils, hypercellular bone marrow with granulocytic proliferation and dysplasia, bone marrow blast less than 20% and absence of BCR/ABL fusion gene. 29226717 2018
CUI: C0005941
Disease: Bone Diseases, Developmental
Bone Diseases, Developmental
0.310 Biomarker group CTD_human Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations. 28288113 2017