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: C0683322
Disease: Mental impairment
Mental impairment
disease Mental or Behavioral Dysfunction 67 14 0.010 None 1.000 1 2016 2016
CUI: C1262760
Disease: Hepatitis, Drug-Induced
Hepatitis, Drug-Induced
disease Digestive System Diseases; Chemically-Induced Disorders Disease or Syndrome 418 0.300 None 1.000 1 2016 2016
CUI: C0036572
Disease: Seizures
Seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.110 None 1.000 1 2016 2016
CUI: C0027765
Disease: nervous system disorder
nervous system disorder
group Nervous System Diseases Disease or Syndrome 977 39 0.010 None 1.000 1 1 2016 2016
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 441 120 0.010 None 1.000 1 2016 2016
CUI: C0019193
Disease: Hepatitis, Toxic
Hepatitis, Toxic
disease Digestive System Diseases; Chemically-Induced Disorders Injury or Poisoning 412 0.300 None 1.000 1 2016 2016
Chemical and Drug Induced Liver Injury
disease Digestive System Diseases; Chemically-Induced Disorders Disease or Syndrome 461 38 0.300 None 1.000 1 2016 2016
CUI: C0008370
Disease: Cholestasis
Cholestasis
disease Digestive System Diseases Disease or Syndrome 420 15 0.300 None 1.000 1 2016 2016
CUI: C0013384
Disease: Dyskinetic syndrome
Dyskinetic syndrome
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 316 42 0.110 None 1.000 1 2016 2016
CUI: C4279912
Disease: Chemically-Induced Liver Toxicity
Chemically-Induced Liver Toxicity
disease Digestive System Diseases; Chemically-Induced Disorders Disease or Syndrome 412 0.300 None 1.000 1 2016 2016
CUI: C0008073
Disease: Developmental Disabilities
Developmental Disabilities
group Mental Disorders Mental or Behavioral Dysfunction 355 19 0.010 None 1.000 1 2016 2016
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 24
disease Disease or Syndrome 2 3 0.600 strong 1.000 1 3 2016 2016
CUI: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.010 None 1.000 1 2014 2014
CUI: C0948163
Disease: Leukoaraiosis
Leukoaraiosis
phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 72 24 0.100 None 0 2
CUI: C4317146
Disease: Acid reflux
Acid reflux
phenotype Finding 50 58 0.100 None 0 2
Attention deficit hyperactivity disorder
disease Mental Disorders Mental or Behavioral Dysfunction 842 420 0.100 None 0
CUI: C1847514
Disease: Postnatal microcephaly
Postnatal microcephaly
phenotype Finding 62 0.100 None 0
CUI: C1445953
Disease: Poor eye contact
Poor eye contact
phenotype Mental Disorders Finding 73 6 0.100 None 0
CUI: C1456852
Disease: Ventouse delivery (finding)
Ventouse delivery (finding)
phenotype Finding 3 3 0.100 None 0 2
CUI: C1277241
Disease: Delayed myelination
Delayed myelination
phenotype Mental Disorders Finding 112 6 0.100 None 0
CUI: C0852413
Disease: Abnormal muscle tone
Abnormal muscle tone
phenotype Nervous System Diseases Finding 14 7 0.100 None 0 2
CUI: C0752125
Disease: Spinocerebellar Ataxia Type 7
Spinocerebellar Ataxia Type 7
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 78 2 0.300 None 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0
phenotype Finding 779 0.100 None 0
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE
phenotype Finding 477 0.100 None 0
CUI: C4552810
Disease: Irritability, CTCAE
Irritability, CTCAE
phenotype Finding 140 0.100 None 0