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.
CUI: C1855008
Disease: Mitochondrial Complex II Deficiency
Mitochondrial Complex II Deficiency
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 8 45 0.700 None 1.000 6 2 2009 2016
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 453 97 0.400 limited 1.000 1 2013 2013
CUI: C0393561
Disease: Subcortical Vascular Dementia
Subcortical Vascular Dementia
disease Nervous System Diseases; Mental Disorders; Cardiovascular Diseases Disease or Syndrome 8 0.300 None 1.000 1 2009 2009
CUI: C0600359
Disease: Arteriosclerotic Dementia
Arteriosclerotic Dementia
disease Nervous System Diseases; Mental Disorders; Cardiovascular Diseases Disease or Syndrome 1 0.300 None 1.000 1 2009 2009
CUI: C0270786
Disease: Binswanger Disease
Binswanger Disease
disease Nervous System Diseases; Mental Disorders; Cardiovascular Diseases Disease or Syndrome 4 0.300 None 1.000 1 2009 2009
CUI: C0393560
Disease: Vascular Dementia, Acute Onset
Vascular Dementia, Acute Onset
disease Nervous System Diseases; Mental Disorders; Cardiovascular Diseases Disease or Syndrome 1 0.300 None 1.000 1 2009 2009
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group Nutritional and Metabolic Diseases Disease or Syndrome 284 84 0.300 strong 1.000 1 2016 2016
CUI: C0011269
Disease: Dementia, Vascular
Dementia, Vascular
disease Nervous System Diseases; Mental Disorders; Cardiovascular Diseases Disease or Syndrome 212 32 0.300 None 1.000 1 2009 2009
CUI: C1849097
Disease: Loss of ability to walk
Loss of ability to walk
phenotype Finding 37 11 0.100 None 0
CUI: C1846176
Disease: Hyperactive deep tendon reflexes
Hyperactive deep tendon reflexes
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 32 2 0.100 None 0
CUI: C1845245
Disease: Lower limb hypertonia
Lower limb hypertonia
phenotype Finding 21 5 0.100 None 0
CUI: C1854301
Disease: Motor delay
Motor delay
phenotype Mental Disorders Finding 384 34 0.100 None 0
CUI: C1843175
Disease: Hyperreflexia in upper limbs
Hyperreflexia in upper limbs
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 16 2 0.100 None 0
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy
disease Disease or Syndrome 106 7 0.100 None 0
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate
phenotype Nutritional and Metabolic Diseases Finding 169 2 0.100 None 0
CUI: C0850703
Disease: Frequent falls
Frequent falls
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 94 4 0.100 None 0
CUI: C1262477
Disease: Weight decreased
Weight decreased
phenotype Pathological Conditions, Signs and Symptoms Finding 271 3 0.100 None 0
CUI: C1533847
Disease: Disorder of skeletal muscle
Disorder of skeletal muscle
group Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 29 10 0.100 None 0
CUI: C1836038
Disease: Poor head control
Poor head control
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 162 13 0.100 None 0
CUI: C4476644
Disease: Segmental myoclonic seizures
Segmental myoclonic seizures
phenotype Sign or Symptom 5 0.100 None 0
CUI: C1836806
Disease: Mild microcephaly
Mild microcephaly
phenotype Finding 12 5 0.100 None 0
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease Mental Disorders Disease or Syndrome 333 80 0.100 None 0
CUI: C1839832
Disease: Noncompaction cardiomyopathy
Noncompaction cardiomyopathy
disease Cardiovascular Diseases Disease or Syndrome 17 5 0.100 None 0
CUI: C1855010
Disease: Progressive leukoencephalopathy
Progressive leukoencephalopathy
phenotype Nervous System Diseases Finding 7 0.100 None 0
Progressive psychomotor deterioration
phenotype Finding 11 2 0.100 None 0