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: C3275406
Disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, RAYMOND TYPE
MENTAL RETARDATION, X-LINKED, SYNDROMIC, RAYMOND TYPE 		disease Disease or Syndrome 1 6 0.900 strong 1.000 4 6 2007 2018
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 447 6 0.460 strong 1.000 1 2017 2020
CUI: C0014544
Disease: Epilepsy
Epilepsy 		disease Nervous System Diseases Disease or Syndrome 109 90 0.310 strong 1.000 1 2018 2019
CUI: C0796022
Disease: Lujan Fryns syndrome
Lujan Fryns syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 3 3 0.300 None 1.000 2 2007 2013