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: 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 0.610 strong 1.000 2 2012 2016
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46
disease Disease or Syndrome 1 4 0.600 2 4 2012 2016
CUI: C0917816
Disease: Mental deficiency
Mental deficiency
disease Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 1031 0.400 1 2012 2012
CUI: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial
disease Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 137 0.300 1 2012 2012
CUI: C3179349
Disease: Gastrointestinal Stromal Sarcoma
Gastrointestinal Stromal Sarcoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 59 0.300 1 2016 2016
CUI: C0020796
Disease: Profound Mental Retardation
Profound Mental Retardation
disease Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 195 2 0.300 1 2012 2012
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors
group Digestive System Diseases; Neoplasms Neoplastic Process 322 90 0.300 1 2016 2016
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 186 4 0.300 1 2005 2005
CUI: C0015393
Disease: Eye Abnormalities
Eye Abnormalities
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 41 2 0.300 1 2005 2005
CUI: C0431380
Disease: Cortical Dysplasia
Cortical Dysplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 63 3 0.300 1 2005 2005
Malformations of Cortical Development
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 98 2 0.300 1 2005 2005
CUI: C0020192
Disease: Hyaline Membrane Disease
Hyaline Membrane Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Disease or Syndrome 11 0.200 2 2000 2000
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome
disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Hemic and Lymphatic Diseases; Musculoskeletal Diseases Disease or Syndrome 73 3 0.200 0
CUI: C0019284
Disease: Diaphragmatic Hernia
Diaphragmatic Hernia
phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 63 2 0.200 0
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
disease Cardiovascular Diseases Disease or Syndrome 965 454 0.100 1 1 2011 2011
CUI: C4020875
Disease: Mental and motor retardation
Mental and motor retardation
phenotype Pathologic Function 1020 151 0.100 0
CUI: C4280574
Disease: Problems speaking
Problems speaking
phenotype Finding 72 0.100 0
CUI: C1457883
Disease: Aggressive reaction
Aggressive reaction
phenotype Mental or Behavioral Dysfunction 109 0.100 0
CUI: C1527347
Disease: Difficulty speaking
Difficulty speaking
phenotype Finding 72 0.100 0
CUI: C1837385
Disease: Poor growth
Poor growth
phenotype Finding 167 0.100 0
CUI: C1843367
Disease: Poor school performance
Poor school performance
phenotype Finding 984 116 0.100 0
CUI: C1848207
Disease: Poor speech
Poor speech
phenotype Finding 75 2 0.100 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype Finding 632 17 0.100 0
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype Finding 965 0.100 0
CUI: C4020876
Disease: Dull intelligence
Dull intelligence
phenotype Finding 946 0.100 0