Source: CURATED ×
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 14 0.740 None 1.000 7 14 2012 2018
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 86 61 0.450 None 1.000 1 2012 2019
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
group Nervous System Diseases Disease or Syndrome 30 6 0.430 None 1.000 1 2013 2019
CUI: C0032461
Disease: Polycythemia
Polycythemia
disease Hemic and Lymphatic Diseases Disease or Syndrome 8 3 0.420 None 1.000 1 2012 2019
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism
disease Endocrine System Diseases Disease or Syndrome 4 245 0.310 None 1.000 1 2017 2017
CUI: C0677050
Disease: Manganese Poisoning
Manganese Poisoning
disease Nervous System Diseases; Chemically-Induced Disorders Injury or Poisoning 14 0.300 None 1.000 2 2017 2018
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
disease Nervous System Diseases Disease or Syndrome 28 29 0.300 None 1.000 1 2015 2015
CUI: C3665349
Disease: Secondary hypothyroidism
Secondary hypothyroidism
disease Endocrine System Diseases Disease or Syndrome 3 2 0.300 None 1.000 1 2017 2017
CUI: C1527405
Disease: Erythrocytosis
Erythrocytosis
phenotype Hemic and Lymphatic Diseases Finding 9 1 0.300 None 1.000 1 2012 2012
CUI: C0752105
Disease: Parkinsonism, Juvenile
Parkinsonism, Juvenile
disease Nervous System Diseases Disease or Syndrome 30 0.300 None 1.000 1 2015 2015
CUI: C0752104
Disease: Familial Juvenile Parkinsonism
Familial Juvenile Parkinsonism
disease Nervous System Diseases Disease or Syndrome 28 0.300 None 1.000 1 2015 2015
CUI: C0752101
Disease: Parkinsonism, Experimental
Parkinsonism, Experimental
disease Nervous System Diseases Experimental Model of Disease 28 0.300 None 1.000 1 2015 2015
CUI: C0752100
Disease: Autosomal Recessive Parkinsonism
Autosomal Recessive Parkinsonism
disease Nervous System Diseases Disease or Syndrome 28 0.300 None 1.000 1 2015 2015
CUI: C0752098
Disease: Autosomal Dominant Parkinsonism
Autosomal Dominant Parkinsonism
disease Nervous System Diseases Disease or Syndrome 28 0.300 None 1.000 1 2015 2015
Autosomal Dominant Juvenile Parkinson Disease
disease Nervous System Diseases Disease or Syndrome 28 0.300 None 1.000 1 2015 2015
CUI: C0751093
Disease: Dystonia, Limb
Dystonia, Limb
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 17 9 0.300 None 1.000 1 2012 2012
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 103 20 0.300 None 1.000 1 2012 2012
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
disease Nervous System Diseases Disease or Syndrome 85 321 0.300 None 1.000 1 2014 2014
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver
disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 105 1 0.300 None 1.000 1 2012 2012
CUI: C0242423
Disease: Ramsay Hunt Paralysis Syndrome
Ramsay Hunt Paralysis Syndrome
disease Nervous System Diseases Disease or Syndrome 28 0.300 None 1.000 1 2015 2015
CUI: C0271801
Disease: Central hypothyroidism
Central hypothyroidism
disease Endocrine System Diseases Disease or Syndrome 4 3 0.300 None 1.000 1 2017 2017
CUI: C0393588
Disease: Dystonia, Paroxysmal
Dystonia, Paroxysmal
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 18 4 0.300 None 1.000 1 2012 2012
CUI: C0393610
Disease: Dystonia, Diurnal
Dystonia, Diurnal
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 17 0.300 None 1.000 1 2012 2012
CUI: C0008370
Disease: Cholestasis
Cholestasis
disease Digestive System Diseases Disease or Syndrome 110 4 0.300 None 1.000 1 2016 2016
CUI: C4316995
Disease: Primary Hypothyroidism
Primary Hypothyroidism
disease Endocrine System Diseases Disease or Syndrome 3 1 0.300 None 1.000 1 2017 2017