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: 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: 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: C4025278
Disease: Stress/infection-induced lactic acidosis
Stress/infection-induced lactic acidosis 		disease Nutritional and Metabolic Diseases Disease or Syndrome 4 0.100 None 0
CUI: C4476644
Disease: Segmental myoclonic seizures
Segmental myoclonic seizures 		phenotype Sign or Symptom 5 0.100 None 0
CUI: C1855010
Disease: Progressive leukoencephalopathy
Progressive leukoencephalopathy 		phenotype Nervous System Diseases Finding 7 0.100 None 0
CUI: C4024705
Disease: Decreased activity of mitochondrial complex II
Decreased activity of mitochondrial complex II 		phenotype Finding 7 2 0.100 None 0
CUI: C4025244
Disease: Abnormal atrioventricular conduction
Abnormal atrioventricular conduction 		phenotype Pathologic Function 7 0.100 None 0
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: C0342777
Disease: Succinate-coenzyme Q reductase deficiency
Succinate-coenzyme Q reductase deficiency 		disease Disease or Syndrome 8 6 0.010 None 1.000 1 2012 2012
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: C1856565
Disease: Progressive psychomotor deterioration
Progressive psychomotor deterioration 		phenotype Finding 11 2 0.100 None 0
CUI: C1836806
Disease: Mild microcephaly
Mild microcephaly 		phenotype Finding 12 5 0.100 None 0
CUI: C0240116
Disease: Hyperactive patellar reflex
Hyperactive patellar reflex 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 14 3 0.100 None 0
CUI: C1866284
Disease: Motor deterioration
Motor deterioration 		phenotype Mental Disorders Finding 14 1 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: C1839832
Disease: Noncompaction cardiomyopathy
Noncompaction cardiomyopathy 		disease Cardiovascular Diseases Disease or Syndrome 17 5 0.100 None 0
CUI: C1845245
Disease: Lower limb hypertonia
Lower limb hypertonia 		phenotype Finding 21 5 0.100 None 0
CUI: C2237142
Disease: Moderate global developmental delay
Moderate global developmental delay 		phenotype Finding 27 21 0.100 None 0
CUI: C4020730
Disease: Increased intramyocellular lipid droplets
Increased intramyocellular lipid droplets 		phenotype Finding 27 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: C0454641
Disease: Expressive language delay
Expressive language delay 		phenotype Disease or Syndrome 30 25 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: C1960469
Disease: Left ventricular noncompaction
Left ventricular noncompaction 		disease Cardiovascular Diseases Disease or Syndrome 35 26 0.100 None 0
CUI: C1849097
Disease: Loss of ability to walk
Loss of ability to walk 		phenotype Finding 37 11 0.100 None 0