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: C0013362
Disease: Dysarthria
Dysarthria
disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 281 19 0.100 0
Subclinical abnormal liver function tests
phenotype Finding 117 0.100 0
CUI: C1112213
Disease: Cholestasis in newborn
Cholestasis in newborn
disease Disease or Syndrome 91 2 0.300 limited 0
CUI: C0877359
Disease: Increased liver function tests
Increased liver function tests
phenotype Finding 117 0.100 0
Increased total iron binding capacity
phenotype Finding 2 0.100 0
CUI: C0438237
Disease: Liver enzymes abnormal
Liver enzymes abnormal
phenotype Finding 117 0.100 0
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity
phenotype Musculoskeletal Diseases; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 118 7 0.100 0
CUI: C0040822
Disease: Tremor
Tremor
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 225 27 0.100 0
CUI: C0086565
Disease: Liver Dysfunction
Liver Dysfunction
phenotype Digestive System Diseases Finding 206 0.100 0
Liver function tests abnormal finding
phenotype Finding 117 0.100 0
CUI: C0235996
Disease: Elevated liver enzymes
Elevated liver enzymes
phenotype Finding 117 0.100 0
CUI: C0233565
Disease: Bradykinesia
Bradykinesia
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 60 4 0.100 0
CUI: C1843921
Disease: Postural instability
Postural instability
phenotype Finding 23 1 0.100 0
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
phenotype Digestive System Diseases; Pathological Conditions, Signs and Symptoms Finding 372 0.100 0
CUI: C1848701
Disease: Elevated hepatic transaminases
Elevated hepatic transaminases
phenotype Finding 118 2 0.100 0
CUI: C4020871
Disease: Dystonic disease
Dystonic disease
disease Disease or Syndrome 147 0.100 0
CUI: C3279149
Disease: Liver dysfunction, mild
Liver dysfunction, mild
phenotype Finding 38 0.100 0
CUI: C0232744
Disease: Decreased liver function
Decreased liver function
phenotype Finding 38 0.100 0
CUI: C0438717
Disease: Transaminases increased
Transaminases increased
phenotype Finding 117 0.100 0
CUI: C1867864
Disease: Poor fine motor coordination
Poor fine motor coordination
phenotype Finding 5 0.100 0
CUI: C1868945
Disease: Polyglobulia
Polyglobulia
disease Disease or Syndrome 8 0.100 0
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
disease Nervous System Diseases Disease or Syndrome 1063 636 0.500 strong 5 1993 2015
Diabetes Mellitus, Insulin-Dependent
disease Endocrine System Diseases; Immune System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 955 775 0.100 0.971 35 2008 2017
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
group Endocrine System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 1506 440 0.100 1.000 21 2008 2017
CUI: C0011847
Disease: Diabetes
Diabetes
disease Disease or Syndrome 1267 349 0.100 1.000 20 2008 2017