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: C1864912
Disease: 2-Methylbutyryl-CoA Dehydrogenase Deficiency
2-Methylbutyryl-CoA Dehydrogenase Deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 1 4 0.700 definitive 1.000 8 4 2000 2016
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 261 181 0.300 None 1.000 1 2007 2007