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: C2697764
Disease: Interleukin 16 Measurement
Interleukin 16 Measurement 		phenotype Laboratory Procedure 9 12 0.100 None 1.000 1 1 2017 2017
CUI: C3554439
Disease: Microcephalic primordial dwarfism Alazami type
Microcephalic primordial dwarfism Alazami type 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 4 6 0.100 None 0 6
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		phenotype Anatomical Abnormality 104 131 0.100 None 0 1