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.
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 0.600 4 9 2015 2017
MENTAL RETARDATION, AUTOSOMAL DOMINANT 22
disease Disease or Syndrome 3 0.500 0
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 0.410 strong 1.000 7 2012 2017
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease Disease or Syndrome 467 60 0.300 strong 0
CUI: C4273897
Disease: Distal monosomy 1q
Distal monosomy 1q
disease Disease or Syndrome 1 0.300 0
MENTAL RETARDATION, AUTOSOMAL DOMINANT 2
disease Disease or Syndrome 4 0.200 0
MENTAL RETARDATION, AUTOSOMAL DOMINANT 8
disease Disease or Syndrome 4 8 0.200 0
MENTAL RETARDATION, AUTOSOMAL DOMINANT 9
disease Disease or Syndrome 4 24 0.200 0
MENTAL RETARDATION, AUTOSOMAL DOMINANT 6
disease Mental or Behavioral Dysfunction 4 17 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 20
disease Disease or Syndrome 4 10 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 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 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 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 7
disease Disease or Syndrome 4 23 0.200 0
MENTAL RETARDATION, AUTOSOMAL DOMINANT 10
disease Disease or Syndrome 4 0.200 0
MENTAL RETARDATION, AUTOSOMAL DOMINANT 11
disease Disease or Syndrome 4 0.200 0
CHROMOSOME 5q14.3 DELETION SYNDROME, PROXIMAL
disease Disease or Syndrome 4 0.200 0
MENTAL RETARDATION, AUTOSOMAL DOMINANT 24
disease Disease or Syndrome 4 6 0.200 0
MENTAL RETARDATION, AUTOSOMAL DOMINANT 23
disease Disease or Syndrome 4 6 0.200 0
MENTAL RETARDATION, AUTOSOMAL DOMINANT 21
disease Disease or Syndrome 4 3 0.200 0
MENTAL RETARDATION, AUTOSOMAL DOMINANT 19
disease Disease or Syndrome 4 9 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
MENTAL RETARDATION, AUTOSOMAL DOMINANT 18
disease Disease or Syndrome 4 7 0.200 0