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.
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 4
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 1 11 0.700 None 1.000 2 11 2018 2018
CUI: C0027765
Disease: nervous system disorder
nervous system disorder
group Nervous System Diseases Disease or Syndrome 977 39 0.020 None 1.000 2 2018 2018
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 580 48 0.110 None 1.000 1 2018 2018
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 441 120 0.010 None 1.000 1 2018 2018
CUI: C0041296
Disease: Tuberculosis
Tuberculosis
disease Infections Disease or Syndrome 1256 328 0.010 None 1.000 1 2018 2018
CUI: C0004134
Disease: Ataxia
Ataxia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 868 68 0.110 None 1.000 1 2018 2018
CUI: C0087012
Disease: Ataxia, Spinocerebellar
Ataxia, Spinocerebellar
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 156 4 0.010 None 1.000 1 2018 2018
CUI: C0023211
Disease: Left Bundle-Branch Block
Left Bundle-Branch Block
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 25 1 0.010 None 1.000 1 2019 2019