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.
LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY
disease Disease or Syndrome 1 1 0.600 0 1
CUI: C0270612
Disease: Leukoencephalopathies
Leukoencephalopathies
group Nervous System Diseases Disease or Syndrome 85 6 0.400 1 2006 2006
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 5053 1365 0.310 1.000 1 2015 2015
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 250 31 0.310 1.000 1 2006 2006
CUI: C0282528
Disease: Peroxisomal Disorders
Peroxisomal Disorders
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 42 0.300 strong 2 2015 2015
CUI: C0271683
Disease: Polyneuropathy, Motor
Polyneuropathy, Motor
disease Nervous System Diseases Disease or Syndrome 15 0.300 1 2006 2006
CUI: C0393588
Disease: Dystonia, Paroxysmal
Dystonia, Paroxysmal
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 21 1 0.300 1 2006 2006
CUI: C0393610
Disease: Dystonia, Diurnal
Dystonia, Diurnal
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 18 0.300 1 2006 2006
CUI: C0393851
Disease: Polyneuropathy, Critical Illness
Polyneuropathy, Critical Illness
disease Nervous System Diseases Disease or Syndrome 3 0.300 1 2006 2006
CUI: C0751093
Disease: Dystonia, Limb
Dystonia, Limb
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 25 0.300 1 2006 2006
CUI: C0751448
Disease: Polyneuropathy, Familial
Polyneuropathy, Familial
disease Nervous System Diseases Disease or Syndrome 5 0.300 1 2006 2006
CUI: C0751449
Disease: Acquired Polyneuropathy
Acquired Polyneuropathy
disease Nervous System Diseases Disease or Syndrome 3 0.300 1 2006 2006
Childhood Ataxia with Central Nervous System Hypomyelinization
disease Nervous System Diseases Disease or Syndrome 30 57 0.300 1 2006 2006
CUI: C0152025
Disease: Polyneuropathy
Polyneuropathy
disease Nervous System Diseases Disease or Syndrome 94 8 0.300 1 2006 2006
CUI: C1112213
Disease: Cholestasis in newborn
Cholestasis in newborn
disease Disease or Syndrome 91 2 0.300 limited 0
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy
disease Disease or Syndrome 203 6 0.300 strong 0
CUI: C0239882
Disease: Head tremor
Head tremor
phenotype Sign or Symptom 6 0.100 0
CUI: C0948896
Disease: Primary hypogonadism
Primary hypogonadism
disease Endocrine System Diseases Disease or Syndrome 67 0.100 0
CUI: C0949445
Disease: Cervical Dystonia
Cervical Dystonia
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 34 3 0.100 0
CUI: C1842584
Disease: Impaired saccades
Impaired saccades
phenotype Finding 4 0.100 0
CUI: C0004509
Disease: Azoospermia
Azoospermia
disease Male Urogenital Diseases Disease or Syndrome 173 80 0.100 0
CUI: C2364082
Disease: Sense of smell impaired
Sense of smell impaired
phenotype Sign or Symptom 38 2 0.100 0
CUI: C4020856
Disease: Terminal tremor
Terminal tremor
phenotype Finding 30 1 0.100 0
CUI: C4021243
Disease: Abnormality of thalamus morphology
Abnormality of thalamus morphology
phenotype Anatomical Abnormality 2 0.100 0
CUI: C4025707
Disease: Abnormal motor neuron morphology
Abnormal motor neuron morphology
phenotype Anatomical Abnormality 1 0.100 0