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: C0033860
Disease: Psoriasis
Psoriasis
disease Skin and Connective Tissue Diseases Disease or Syndrome 1308 705 0.010 None 1.000 1 2004 2004
CUI: C0036690
Disease: Septicemia
Septicemia
disease Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 1285 141 0.010 None 1.000 1 2017 2017
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 1263 112 0.030 None 1.000 3 2007 2018
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease Nervous System Diseases Disease or Syndrome 1215 339 0.040 None 0.750 4 1 2000 2018
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 1183 839 0.340 None 0.500 4 2003 2012
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke
disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 1159 704 0.020 None 1.000 2 2015 2017
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 1112 395 0.010 None 1.000 1 2019 2019
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
disease Mental Disorders Mental or Behavioral Dysfunction 1071 331 0.200 None 0
CUI: C0020179
Disease: Huntington Disease
Huntington Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Disease or Syndrome 978 115 0.010 None 1.000 1 1993 1993
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 967 579 0.100 None 1.000 25 3 1983 2017
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 955 164 0.100 None 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 910 121 0.040 None 1.000 4 2010 2019
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
disease Musculoskeletal Diseases Disease or Syndrome 850 135 0.100 None 0
CUI: C0004936
Disease: Mental disorders
Mental disorders
group Mental Disorders Mental or Behavioral Dysfunction 789 149 0.020 None 1.000 2 2010 2011
Idiopathic pulmonary arterial hypertension
disease Respiratory Tract Diseases Disease or Syndrome 776 24 0.010 None 1.000 1 2018 2018
CUI: C0027796
Disease: Neuralgia
Neuralgia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 767 16 0.010 None 1.000 1 2017 2017
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 2018 2018
CUI: C0038379
Disease: Strabismus
Strabismus
disease Eye Diseases; Nervous System Diseases Disease or Syndrome 716 89 0.100 None 0
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
disease Nutritional and Metabolic Diseases Disease or Syndrome 694 93 0.010 None 1.000 1 2017 2017
CUI: C0019348
Disease: Herpes Simplex Infections
Herpes Simplex Infections
group Infections; Skin and Connective Tissue Diseases Disease or Syndrome 645 11 0.010 None 1.000 1 2011 2011
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder)
phenotype Mental Disorders Mental or Behavioral Dysfunction 584 68 0.010 None 1.000 1 2019 2019
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 580 48 0.100 None 0
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic
disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 577 441 0.330 None 1.000 4 2003 2013
CUI: C0033975
Disease: Psychotic Disorders
Psychotic Disorders
group Mental Disorders Mental or Behavioral Dysfunction 560 179 0.320 None 1.000 3 1 2001 2013
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases
group Nervous System Diseases Disease or Syndrome 549 69 0.010 None 1.000 1 2019 2019