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.
Hypermanganesemia with Dystonia Polycythemia and Cirrhosis
disease Nutritional and Metabolic Diseases Disease or Syndrome 1 2 0.630 1.000 6 2 2012 2017
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
disease Nervous System Diseases Disease or Syndrome 1063 636 0.500 strong 5 1993 2015
CUI: C0008370
Disease: Cholestasis
Cholestasis
disease Digestive System Diseases Disease or Syndrome 314 5 0.500 strong 1 2016 2016
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 250 31 0.430 1.000 3 2013 2014
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
group Nervous System Diseases Disease or Syndrome 213 64 0.420 1.000 3 2013 2016
CUI: C1527405
Disease: Erythrocytosis
Erythrocytosis
phenotype Hemic and Lymphatic Diseases Finding 12 1 0.400 1 2013 2013
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
disease Digestive System Diseases Disease or Syndrome 682 71 0.400 1 2013 2013
CUI: C0032461
Disease: Polycythemia
Polycythemia
disease Hemic and Lymphatic Diseases Disease or Syndrome 74 17 0.400 1 2013 2013
CUI: C0393610
Disease: Dystonia, Diurnal
Dystonia, Diurnal
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 18 0.300 1 2013 2013
CUI: C4316995
Disease: Primary Hypothyroidism
Primary Hypothyroidism
disease Endocrine System Diseases Disease or Syndrome 5 0.300 1 2017 2017
CUI: C0752105
Disease: Parkinsonism, Juvenile
Parkinsonism, Juvenile
disease Nervous System Diseases Disease or Syndrome 41 3 0.300 1 2016 2016
CUI: C0752104
Disease: Familial Juvenile Parkinsonism
Familial Juvenile Parkinsonism
disease Nervous System Diseases Disease or Syndrome 27 0.300 1 2016 2016
CUI: C0271801
Disease: Central hypothyroidism
Central hypothyroidism
disease Endocrine System Diseases Disease or Syndrome 19 0.300 1 2017 2017
CUI: C0393588
Disease: Dystonia, Paroxysmal
Dystonia, Paroxysmal
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 21 1 0.300 1 2013 2013
CUI: C0752101
Disease: Parkinsonism, Experimental
Parkinsonism, Experimental
disease Nervous System Diseases Experimental Model of Disease 27 0.300 1 2016 2016
CUI: C0752100
Disease: Autosomal Recessive Parkinsonism
Autosomal Recessive Parkinsonism
disease Nervous System Diseases Disease or Syndrome 33 0.300 1 2016 2016
CUI: C0242423
Disease: Ramsay Hunt Paralysis Syndrome
Ramsay Hunt Paralysis Syndrome
disease Nervous System Diseases Disease or Syndrome 27 0.300 1 2016 2016
CUI: C0752098
Disease: Autosomal Dominant Parkinsonism
Autosomal Dominant Parkinsonism
disease Nervous System Diseases Disease or Syndrome 32 2 0.300 1 2016 2016
CUI: C0751093
Disease: Dystonia, Limb
Dystonia, Limb
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 25 0.300 1 2013 2013
CUI: C0677050
Disease: Manganese Poisoning
Manganese Poisoning
disease Nervous System Diseases; Substance-Related Disorders Injury or Poisoning 13 0.300 1 2017 2017
Autosomal Dominant Juvenile Parkinson Disease
disease Nervous System Diseases Disease or Syndrome 27 0.300 1 2016 2016
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver
disease Digestive System Diseases Disease or Syndrome 544 31 0.300 1 2013 2013
CUI: C3665349
Disease: Secondary hypothyroidism
Secondary hypothyroidism
disease Endocrine System Diseases Disease or Syndrome 23 0.300 1 2017 2017
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism
disease Endocrine System Diseases Disease or Syndrome 267 83 0.300 1 2017 2017
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
disease Nervous System Diseases Disease or Syndrome 95 28 0.300 1 2016 2016