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: C4693367
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58 		disease Disease or Syndrome 1 1 0.600 None 1.000 3 1 2004 2017
CUI: C4476723
Disease: Anti-multiple nuclear dots antibody positivity
Anti-multiple nuclear dots antibody positivity 		phenotype Laboratory or Test Result 1 1 0.100 None 0 1
CUI: C3151303
Disease: Obesity, Hyperphagia, and Developmental Delay
Obesity, Hyperphagia, and Developmental Delay 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders Disease or Syndrome 2 3 0.700 None 1.000 4 3 2004 2017
CUI: C0034931
Disease: Reflex Sympathetic Dystrophy
Reflex Sympathetic Dystrophy 		disease Nervous System Diseases Disease or Syndrome 5 0.010 None 1.000 1 2017 2017
CUI: C0678807
Disease: prenatal alcohol exposure
prenatal alcohol exposure 		phenotype Finding 5 0.300 None 1.000 1 2005 2005
CUI: C0857094
Disease: Endometriosis related pain
Endometriosis related pain 		disease Disease or Syndrome 5 0.010 None 1.000 1 2004 2004
CUI: C3146244
Disease: Alcohol Related Birth Defect
Alcohol Related Birth Defect 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Chemically-Induced Disorders Disease or Syndrome 8 0.300 None 1.000 1 2005 2005
CUI: C0155305
Disease: Optic Neuropathy, Ischemic
Optic Neuropathy, Ischemic 		disease Eye Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 9 0.010 None 1.000 1 2018 2018
CUI: C0751506
Disease: REM Sleep Deprivation
REM Sleep Deprivation 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Disease or Syndrome 9 0.010 None 1.000 1 2017 2017
CUI: C0240595
Disease: Rotary Nystagmus
Rotary Nystagmus 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 9 3 0.100 None 0 1
CUI: C4025573
Disease: Increased muscle fatiguability
Increased muscle fatiguability 		phenotype Finding 9 3 0.100 None 0 1
CUI: C4023470
Disease: EEG with continuous slow activity
EEG with continuous slow activity 		phenotype Finding 10 1 0.100 None 0 1
CUI: C4022761
Disease: Reduced brain N-acetyl aspartate level by MRS
Reduced brain N-acetyl aspartate level by MRS 		phenotype Finding 11 8 0.100 None 0 1
CUI: C0013415
Disease: Dysthymic Disorder
Dysthymic Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 12 2 0.300 None 1.000 1 2005 2005
CUI: C1519086
Disease: Pilomyxoid astrocytoma
Pilomyxoid astrocytoma 		disease Neoplasms Neoplastic Process 15 2 0.300 None 1.000 1 2013 2013
CUI: C1524032
Disease: Depression and Suicide
Depression and Suicide 		disease Mental or Behavioral Dysfunction 15 2 0.010 None 1.000 1 2016 2016
CUI: C4023528
Disease: Abnormality of skin morphology
Abnormality of skin morphology 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Anatomical Abnormality 16 2 0.100 None 0
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 2018 2018
CUI: C0750936
Disease: Intracranial Astrocytoma
Intracranial Astrocytoma 		disease Neoplasms Neoplastic Process 26 0.300 None 1.000 1 2013 2013
CUI: C0338070
Disease: Childhood Cerebral Astrocytoma
Childhood Cerebral Astrocytoma 		disease Neoplasms Neoplastic Process 28 0.300 None 1.000 1 2013 2013
CUI: C0085996
Disease: Child Development Deviations
Child Development Deviations 		disease Mental Disorders Mental or Behavioral Dysfunction 29 0.300 None 1.000 1 2004 2004
CUI: C0334580
Disease: Protoplasmic astrocytoma
Protoplasmic astrocytoma 		disease Neoplasms Neoplastic Process 29 0.300 None 1.000 1 2013 2013
CUI: C0085997
Disease: Child Development Disorders, Specific
Child Development Disorders, Specific 		disease Mental Disorders Mental or Behavioral Dysfunction 30 0.300 None 1.000 1 2004 2004
CUI: C0547065
Disease: Mixed oligoastrocytoma
Mixed oligoastrocytoma 		disease Neoplasms Neoplastic Process 30 0.300 None 1.000 1 2013 2013
CUI: C1518693
Disease: Clear cell adenocarcinoma of ovary
Clear cell adenocarcinoma of ovary 		disease Neoplasms Neoplastic Process 30 2 0.010 None 1.000 1 2014 2014