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.
CUI: C0003467
Disease: Anxiety
Anxiety 		disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1048 287 0.100 None 0
CUI: C0004134
Disease: Ataxia
Ataxia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 868 68 0.100 None 0
CUI: C0000921
Disease: Accidental Falls
Accidental Falls 		phenotype Injury or Poisoning 22 0.100 None 0
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 210 15 0.100 None 0
CUI: C4023701
Disease: Impaired visuospatial constructive cognition
Impaired visuospatial constructive cognition 		phenotype Finding 15 0.100 None 0
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 94 135 0.400 None 1.000 23 1991 2019
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 185 8 0.100 None 1.000 12 1991 2016
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 611 158 0.030 None 1.000 3 1993 2019
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases Congenital Abnormality 190 75 0.020 None 1.000 2 1993 2019
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 295 70 0.020 None 1.000 2 1993 2019
CUI: C0270854
Disease: Symptomatic Generalized Epilepsy
Symptomatic Generalized Epilepsy 		disease Nervous System Diseases Disease or Syndrome 5 0.010 None 1.000 1 1993 1993
CUI: C0270853
Disease: Juvenile Myoclonic Epilepsy
Juvenile Myoclonic Epilepsy 		disease Nervous System Diseases Disease or Syndrome 74 46 0.020 None 1.000 2 1 1997 2005
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 1112 395 0.400 None 0.867 15 3 1998 2018
CUI: C0014544
Disease: Epilepsy
Epilepsy 		disease Nervous System Diseases Disease or Syndrome 1215 339 0.390 None 1.000 11 2 1998 2019
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 577 441 0.340 None 1.000 4 1998 2013
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.130 None 1.000 3 1998 2018
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		phenotype Mental Disorders Mental or Behavioral Dysfunction 584 68 0.030 None 1.000 3 1998 2018
CUI: C0234533
Disease: Generalized seizures
Generalized seizures 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 210 13 0.010 None 1.000 1 1998 1998
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy 		disease Nervous System Diseases Disease or Syndrome 89 17 0.500 None 0.917 12 3 1999 2019
CUI: C4281785
Disease: Childhood Absence Epilepsy
Childhood Absence Epilepsy 		disease Nervous System Diseases Disease or Syndrome 33 13 0.400 None 0.900 10 3 1999 2019
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		group Mental Disorders Mental or Behavioral Dysfunction 535 14 0.320 None 1.000 3 1999 2018
CUI: C0036572
Disease: Seizures
Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.130 None 1.000 3 1999 2017
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 757 47 0.010 None 1.000 1 1999 1999
CUI: C0011570
Disease: Mental Depression
Mental Depression 		disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1478 271 0.330 None 1.000 5 1 2001 2012
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 1719 297 0.430 None 1.000 5 1 2001 2012