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.
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26
disease Disease or Syndrome 1 13 0.700 None 1.000 7 13 2014 2017
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
disease Mental Disorders Mental or Behavioral Dysfunction 2872 2897 0.310 None 1.000 1 2016 2016
CUI: C0019284
Disease: Diaphragmatic Hernia
Diaphragmatic Hernia
phenotype Pathological Conditions, Signs and Symptoms Disease or Syndrome 78 3 0.300 None 1.000 1 2004 2004
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease Nervous System Diseases Disease or Syndrome 187 126 0.150 None 1.000 5 19 2014 2019
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.130 None 1.000 5 2 2015 2017
CUI: C0036572
Disease: Seizures
Seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.110 None 1.000 3 2 2017 2017
CUI: C0085584
Disease: Encephalopathies
Encephalopathies
group Nervous System Diseases Disease or Syndrome 457 64 0.110 None 1.000 1 2020 2020
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 0.110 None 1.000 1 2017 2017
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 967 579 0.100 None 1.000 7 1 1995 2017
CUI: C0021704
Disease: Intelligence
Intelligence
phenotype Behavior and Behavior Mechanisms Mental Process 645 2093 0.100 None 1.000 3 5 2018 2019
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 441 120 0.100 None 1.000 2 1 2017 2017
CUI: C4022901
Disease: Low CSF 5-methyltetrahydrofolate
Low CSF 5-methyltetrahydrofolate
phenotype Finding 1 1 0.100 None 1.000 2 1 2017 2017
CUI: C0005890
Disease: Body Height
Body Height
phenotype Organism Attribute 1903 3972 0.100 None 1.000 1 1 2017 2017
CUI: C0596887
Disease: mathematical ability
mathematical ability
phenotype Mental Process 854 2127 0.100 None 1.000 1 1 2018 2018
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 1236 1451 0.100 None 1.000 1 2 2018 2018
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure
phenotype Clinical Attribute 507 1037 0.100 None 1.000 1 1 2018 2018
Delayed speech and language development
phenotype Behavior and Behavior Mechanisms Finding 560 192 0.100 None 0 1
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure
phenotype Finding 391 49 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature
phenotype Finding 1127 292 0.100 None 0
CUI: C0311394
Disease: Difficulty walking
Difficulty walking
phenotype Pathological Conditions, Signs and Symptoms Finding 224 30 0.100 None 0 1
CUI: C0239676
Disease: High forehead
High forehead
phenotype Finding 211 17 0.100 None 0
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 454 44 0.100 None 0
CUI: C0235659
Disease: Reduced fetal movement
Reduced fetal movement
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Finding 169 17 0.100 None 0
CUI: C0234985
Disease: Mental deterioration
Mental deterioration
phenotype Mental Disorders Mental or Behavioral Dysfunction 508 121 0.100 None 0
CUI: C0013384
Disease: Dyskinetic syndrome
Dyskinetic syndrome
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 316 42 0.100 None 0