CANT1, calcium activated nucleotidase 1, 124583

N. diseases: 111; N. variants: 19
Disease: Desbuquois syndrome ×
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0432242
Disease: Desbuquois syndrome
Desbuquois syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome 9 3 0.600 None 1.000 13 1 2009 2019