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: C0086237
Disease: Epilepsy, Cryptogenic
Epilepsy, Cryptogenic
disease Nervous System Diseases Disease or Syndrome 88 4 0.300 None 1.000 2 2005 2018
CUI: C0270850
Disease: Idiopathic generalized epilepsy
Idiopathic generalized epilepsy
disease Nervous System Diseases Disease or Syndrome 94 24 0.020 None 1.000 2 1 2007 2010
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: C0751111
Disease: Awakening Epilepsy
Awakening Epilepsy
disease Nervous System Diseases Disease or Syndrome 83 0.300 None 1.000 2 2005 2018
CUI: C0751122
Disease: Infantile Severe Myoclonic Epilepsy
Infantile Severe Myoclonic Epilepsy
disease Nervous System Diseases Disease or Syndrome 63 32 0.020 None 1.000 2 2010 2017
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
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
disease Nervous System Diseases Disease or Syndrome 57 43 0.020 None 1.000 2 2010 2017
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: C4317339
Disease: Juvenile Absence Epilepsy
Juvenile Absence Epilepsy
disease Nervous System Diseases Disease or Syndrome 13 3 0.310 None 1.000 2 1 2008 2019
CUI: C4505072
Disease: Epileptic Syndromes
Epileptic Syndromes
disease Nervous System Diseases Disease or Syndrome 46 2 0.020 None 1.000 2 2010 2019
CUI: C0001890
Disease: Akinetic Petit Mal
Akinetic Petit Mal
disease Nervous System Diseases Disease or Syndrome 7 0.300 None 1.000 1 2008 2008
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 255 282 0.010 None 1.000 1 2002 2002
CUI: C0014548
Disease: Epilepsy, Generalized
Epilepsy, Generalized
disease Nervous System Diseases Disease or Syndrome 93 36 0.010 None 1.000 1 1 2011 2011
CUI: C0018524
Disease: Hallucinations
Hallucinations
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 178 18 0.010 None 1.000 1 2012 2012
CUI: C0019337
Disease: Heroin Dependence
Heroin Dependence
disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 100 110 0.010 None 1.000 1 1 2014 2014
Sleep Initiation and Maintenance Disorders
disease Nervous System Diseases; Mental Disorders Disease or Syndrome 15 26 0.300 None 1.000 1 2002 2002
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
disease Neoplasms Neoplastic Process 2509 386 0.010 None 1.000 1 2013 2013
CUI: C0030297
Disease: Pancreatic Neoplasm
Pancreatic Neoplasm
disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 764 20 0.010 None 1.000 1 2005 2005
CUI: C0030319
Disease: Panic Disorder
Panic Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 175 101 0.010 None 1.000 1 2014 2014
CUI: C0033139
Disease: Primary Insomnia
Primary Insomnia
disease Nervous System Diseases; Mental Disorders Disease or Syndrome 7 2 0.300 None 1.000 1 2002 2002
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 234 368 0.010 None 1.000 1 2007 2007
CUI: C0038436
Disease: Post-Traumatic Stress Disorder
Post-Traumatic Stress Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 418 117 0.010 None 1.000 1 2001 2001
CUI: C0078918
Disease: Albinism, Oculocutaneous
Albinism, Oculocutaneous
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases Congenital Abnormality 49 45 0.010 None 1.000 1 2013 2013
CUI: C0085762
Disease: Alcohol abuse
Alcohol abuse
disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 156 24 0.010 None 1.000 1 2004 2004
CUI: C0158646
Disease: Cleft palate with cleft lip
Cleft palate with cleft lip
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 119 43 0.010 None 1.000 1 2009 2009