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: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0 1
CUI: C4310702
Disease: ALAZAMI-YUAN SYNDROME
ALAZAMI-YUAN SYNDROME
disease Disease or Syndrome 1 2 0.700 strong 1.000 2 2 2015 2015
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.400 strong 1.000 1 2015 2015
Finding of Mean Corpuscular Hemoglobin
phenotype Finding 653 1206 0.100 None 1.000 1 1 2019 2019