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.
MENTAL RETARDATION, AUTOSOMAL DOMINANT 26
disease Disease or Syndrome 1 3 0.800 4 3 2014 2016
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 2502 53 0.470 strong 1.000 7 2007 2016
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
disease Mental Disorders Mental or Behavioral Dysfunction 1922 1782 0.310 1.000 2 2 2013 2015
CUI: C0751111
Disease: Awakening Epilepsy
Awakening Epilepsy
disease Nervous System Diseases Disease or Syndrome 60 0.300 1 2010 2010
CUI: C0086237
Disease: Epilepsy, Cryptogenic
Epilepsy, Cryptogenic
disease Nervous System Diseases Disease or Syndrome 62 1 0.300 1 2010 2010
CUI: C0236018
Disease: Aura
Aura
phenotype Nervous System Diseases Finding 60 0.300 1 2010 2010
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease Nervous System Diseases Disease or Syndrome 1176 147 0.300 1 2010 2010
Precursor B-cell lymphoblastic leukemia
disease Neoplastic Process 366 18 0.300 0
CUI: C0006413
Disease: Burkitt Lymphoma
Burkitt Lymphoma
disease Hemic and Lymphatic Diseases; Immune System Diseases; Neoplasms; Virus Diseases Neoplastic Process 406 8 0.300 0
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
group Mental Disorders Mental or Behavioral Dysfunction 676 237 0.200 1.000 10 2003 2016
Mental Retardation, Autosomal Dominant 5
disease Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 4 27 0.200 0
MENTAL RETARDATION, AUTOSOMAL DOMINANT 8
disease Disease or Syndrome 4 8 0.200 0
MENTAL RETARDATION, AUTOSOMAL DOMINANT 2
disease Disease or Syndrome 4 0.200 0
Mental Retardation, Autosomal Dominant 4
disease Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 4 4 0.200 0
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
disease Disease or Syndrome 4 23 0.200 0
CUI: C3277090
Disease: CHROMOSOME 2q23.1 DELETION SYNDROME
CHROMOSOME 2q23.1 DELETION SYNDROME
disease Disease or Syndrome 3 5 0.200 0
MENTAL RETARDATION, AUTOSOMAL DOMINANT 6
disease Mental or Behavioral Dysfunction 4 17 0.200 0
MENTAL RETARDATION, AUTOSOMAL DOMINANT 20
disease Disease or Syndrome 4 10 0.200 0
Chromosome 1q43-Q44 Deletion Syndrome
disease Behavior and Behavior Mechanisms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 3 9 0.200 0
Mental Retardation, Autosomal Dominant 1
disease Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 3 11 0.200 0
Mental Retardation, Autosomal Dominant 3
disease Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 4 4 0.200 0
MENTAL RETARDATION, AUTOSOMAL DOMINANT 9
disease Disease or Syndrome 4 24 0.200 0
MENTAL RETARDATION, AUTOSOMAL DOMINANT 10
disease Disease or Syndrome 4 0.200 0
CHROMOSOME 5q14.3 DELETION SYNDROME, PROXIMAL
disease Disease or Syndrome 4 0.200 0
CUI: C4014538
Disease: HELSMOORTEL-VAN DER AA SYNDROME
HELSMOORTEL-VAN DER AA SYNDROME
disease Disease or Syndrome 4 10 0.200 0