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: C0338474
Disease: Central nervous system demyelination
Central nervous system demyelination 		disease Disease or Syndrome 52 3 0.010 None 1.000 1 2017 2017
CUI: C0521158
Disease: Recurrent tumor
Recurrent tumor 		phenotype Neoplastic Process 735 33 0.010 None 1.000 1 2017 2017
CUI: C0871189
Disease: Psychotic symptom
Psychotic symptom 		phenotype Sign or Symptom 86 21 0.010 None 1.000 1 2009 2009
CUI: C1263886
Disease: Neoplasm of frontal lobe
Neoplasm of frontal lobe 		disease Neoplastic Process 2 0.010 None 1.000 1 2014 2014
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.010 None 1.000 1 2016 2016
CUI: C1608408
Disease: Malignant transformation
Malignant transformation 		phenotype Neoplastic Process 1027 20 0.010 None 1.000 1 2017 2017
CUI: C1852242
Disease: Nonarteritic anterior ischemic optic neuropathy (NAION)
Nonarteritic anterior ischemic optic neuropathy (NAION) 		disease Disease or Syndrome 22 6 0.010 None 1.000 1 2019 2019
CUI: C2986550
Disease: Pituicytoma
Pituicytoma 		disease Neoplastic Process 7 0.010 None 1.000 1 2013 2013
CUI: C2986658
Disease: Diffuse Intrinsic Pontine Glioma
Diffuse Intrinsic Pontine Glioma 		disease Neoplastic Process 87 9 0.010 None 1.000 1 2017 2017
CUI: C3828464
Disease: Proneural Glioblastoma
Proneural Glioblastoma 		disease Neoplastic Process 7 0.010 None 1.000 1 2017 2017
CUI: C3829122
Disease: Mesenchymal Glioblastoma
Mesenchymal Glioblastoma 		disease Neoplastic Process 21 0.010 None 1.000 1 2017 2017
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 910 121 0.020 None 1.000 2 1 2013 2019
CUI: C0740858
Disease: Substance abuse problem
Substance abuse problem 		disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 185 20 0.010 None 1.000 1 2008 2008
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Neoplastic Process 609 237 0.010 None 1.000 1 2020 2020
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Neoplastic Process 311 827 0.010 None 1.000 1 2017 2017
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 766 80 0.050 None 1.000 5 2000 2019
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 141 13 0.010 None 1.000 1 2018 2018
CUI: C1845055
Disease: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 42 32 0.010 None 1.000 1 1 2018 2018
CUI: C0040517
Disease: Gilles de la Tourette syndrome
Gilles de la Tourette syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Disease or Syndrome 177 63 0.010 None 1.000 1 2007 2007
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 190 27 0.010 None < 0.001 1 2007 2007
CUI: C0014070
Disease: Encephalomyelitis
Encephalomyelitis 		disease Infections; Nervous System Diseases Disease or Syndrome 865 7 0.020 None 1.000 2 2017 2018
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		disease Mental Disorders Mental or Behavioral Dysfunction 2872 2897 0.400 None 0.600 10 3 2006 2020
CUI: C0028768
Disease: Obsessive-Compulsive Disorder
Obsessive-Compulsive Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 175 112 0.040 None 1.000 4 5 2007 2019
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		disease Mental Disorders Mental or Behavioral Dysfunction 1630 348 0.020 None 1.000 2 2019 2019
CUI: C0003125
Disease: Anorexia Nervosa
Anorexia Nervosa 		disease Mental Disorders Mental or Behavioral Dysfunction 202 72 0.010 None 1.000 1 2013 2013