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: C0004096
Disease: Asthma
Asthma
disease Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome 2096 1536 0.010 None 1.000 1 2005 2005
CUI: C0155877
Disease: Allergic asthma
Allergic asthma
disease Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome 371 55 0.010 None 1.000 1 2005 2005
CUI: C1827849
Disease: IgE-mediated allergic asthma
IgE-mediated allergic asthma
disease Immune System Diseases Disease or Syndrome 133 46 0.010 None 1.000 1 2005 2005
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders
group Mental Disorders Mental or Behavioral Dysfunction 535 14 0.010 None 1.000 1 2005 2005
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 384 96 0.010 None 1.000 1 2006 2006
CUI: C1862389
Disease: ATRIAL SEPTAL DEFECT 1
ATRIAL SEPTAL DEFECT 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 91 16 0.010 None 1.000 1 2006 2006
CUI: C2981140
Disease: Glaucoma of childhood
Glaucoma of childhood
disease Eye Diseases Disease or Syndrome 30 15 0.010 None 1.000 1 2006 2006
CUI: C3495676
Disease: Anorectal Malformations
Anorectal Malformations
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Anatomical Abnormality 112 6 0.010 None 1.000 1 2006 2006
CUI: C0020302
Disease: Hydrophthalmos
Hydrophthalmos
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 60 11 0.010 None 1.000 1 2006 2006
CUI: C0751156
Disease: FRAXA Syndrome
FRAXA Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 8 1 0.010 None 1.000 1 2008 2008
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease Nervous System Diseases Disease or Syndrome 1215 339 0.020 None 1.000 2 2002 2009
Attention deficit hyperactivity disorder
disease Mental Disorders Mental or Behavioral Dysfunction 842 420 0.010 None 1.000 1 2009 2009
CUI: C0041671
Disease: Attention Deficit Disorder
Attention Deficit Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 123 7 0.010 None 1.000 1 2009 2009
Human immunodeficiency virus (HIV) II infection category B1
disease Disease or Syndrome 985 56 0.010 None 1.000 1 2009 2009
CUI: C4317109
Disease: Epileptic Seizures
Epileptic Seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 250 7 0.010 None 1.000 1 2009 2009
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 1263 112 0.010 None 1.000 1 2010 2010
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 669 77 0.010 None 1.000 1 2012 2012
CUI: C0233794
Disease: Memory impairment
Memory impairment
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 763 48 0.010 None 1.000 1 2012 2012
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 766 80 0.010 None 1.000 1 2012 2012
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases Disease or Syndrome 424 28 0.020 None 1.000 2 2010 2014
CUI: C0262405
Disease: Cerebral dysfunction
Cerebral dysfunction
disease Nervous System Diseases Disease or Syndrome 45 0.010 None 1.000 1 2014 2014
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
disease Nervous System Diseases; Mental Disorders Disease or Syndrome 3397 1843 0.010 None 1.000 1 2016 2016
CUI: C4086152
Disease: Childhood Astrocytoma
Childhood Astrocytoma
disease Neoplasms Neoplastic Process 615 39 0.010 None 1.000 1 2016 2016
CUI: C1842605
Disease: SCHIZOPHRENIA 11
SCHIZOPHRENIA 11
disease Disease or Syndrome 3 0.010 None 1.000 1 2016 2016
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
disease Neoplasms Neoplastic Process 985 59 0.010 None 1.000 1 2016 2016