Source: CURATED ×
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: C2752007
Disease: Congenital Disorder of Glycosylation, Type Io
Congenital Disorder of Glycosylation, Type Io 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 1 1 0.700 None 1.000 3 1 2000 2017
CUI: C0686353
Disease: Muscular Dystrophies, Limb-Girdle
Muscular Dystrophies, Limb-Girdle 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 32 7 0.320 moderate 1.000 1 2009 2019
CUI: C4510743
Disease: Carbohydrate deficient glycoprotein syndrome type 1o
Carbohydrate deficient glycoprotein syndrome type 1o 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 1 0.300 None 1.000 1 2017 2017