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.
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44
disease Disease or Syndrome 2 12 0.600 3 12 2015 2017
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 24
disease Disease or Syndrome 2 4 0.400 2 4 2015 2016
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease Disease or Syndrome 467 60 0.310 strong 1.000 1 2017 2017
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 2502 53 0.300 strong 3 2015 2017
CUI: C0008370
Disease: Cholestasis
Cholestasis
disease Digestive System Diseases Disease or Syndrome 314 5 0.300 1 2017 2017
CUI: C3658290
Disease: Drug-Induced Acute Liver Injury
Drug-Induced Acute Liver Injury
disease Digestive System Diseases; Substance-Related Disorders Disease or Syndrome 324 0.300 1 2017 2017
CUI: C0860207
Disease: Drug-Induced Liver Disease
Drug-Induced Liver Disease
disease Digestive System Diseases; Substance-Related Disorders Disease or Syndrome 376 45 0.300 1 2017 2017
CUI: C0019193
Disease: Hepatitis, Toxic
Hepatitis, Toxic
disease Digestive System Diseases; Substance-Related Disorders Injury or Poisoning 324 0.300 1 2017 2017
Chemical and Drug Induced Liver Injury
disease Digestive System Diseases; Substance-Related Disorders Disease or Syndrome 324 0.300 1 2017 2017
CUI: C4279912
Disease: Chemically-Induced Liver Toxicity
Chemically-Induced Liver Toxicity
disease Digestive System Diseases; Substance-Related Disorders Disease or Syndrome 324 0.300 1 2017 2017
CUI: C1262760
Disease: Hepatitis, Drug-Induced
Hepatitis, Drug-Induced
disease Digestive System Diseases; Substance-Related Disorders Disease or Syndrome 328 0.300 1 2017 2017
Spinocerebellar Ataxia Type 6 (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 47 8 0.300 0
CUI: C0087012
Disease: Ataxia, Spinocerebellar
Ataxia, Spinocerebellar
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 115 3 0.300 0
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 71 1 0.300 0
CUI: C0752120
Disease: Spinocerebellar Ataxia Type 1
Spinocerebellar Ataxia Type 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 78 3 0.300 0
CUI: C0752123
Disease: Spinocerebellar Ataxia Type 5
Spinocerebellar Ataxia Type 5
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 45 4 0.300 0
CUI: C0752122
Disease: Spinocerebellar Ataxia Type 4
Spinocerebellar Ataxia Type 4
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 36 0.300 0
CUI: C0752121
Disease: Spinocerebellar Ataxia Type 2
Spinocerebellar Ataxia Type 2
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 54 0.300 0
Total iron binding capacity function
phenotype Clinical Attribute 14 35 0.100 1 1 2017 2017
Iron binding capacity total measurement
phenotype Laboratory Procedure 14 35 0.100 1 1 2017 2017
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum
disease Congenital Abnormality 186 12 0.100 0
CUI: C1277241
Disease: Delayed myelination
Delayed myelination
phenotype Finding 47 3 0.100 0
CUI: C1445953
Disease: Poor eye contact
Poor eye contact
phenotype Finding 23 1 0.100 0
CUI: C4317146
Disease: Acid reflux
Acid reflux
phenotype Finding 139 4 0.100 0
CUI: C4020873
Disease: Infratentorial atrophy
Infratentorial atrophy
disease Disease or Syndrome 166 8 0.100 0