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: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases
group Nervous System Diseases Disease or Syndrome 549 69 0.100 None 0
CUI: C1445953
Disease: Poor eye contact
Poor eye contact
phenotype Mental Disorders Finding 73 6 0.100 None 0
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 740 337 0.100 None 0
CUI: C1167918
Disease: Increased CSF lactate
Increased CSF lactate
phenotype Finding 87 1 0.100 None 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0
CUI: C0554970
Disease: Pallor of optic disc
Pallor of optic disc
phenotype Finding 98 4 0.100 None 0
CUI: C0456909
Disease: Blindness
Blindness
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 393 34 0.100 None 0
CUI: C0393525
Disease: Progressive cerebellar ataxia
Progressive cerebellar ataxia
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 136 23 0.100 None 0
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy
group Nervous System Diseases Disease or Syndrome 189 17 0.100 None 0
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 454 44 0.100 None 0
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties
phenotype Finding 473 62 0.100 None 0
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7
disease Disease or Syndrome 2 2 0.400 strong 0 2
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 539 19 0.100 None 0
CUI: C0085633
Disease: Mood swings
Mood swings
disease Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 171 1 0.100 None 0
CUI: C0042963
Disease: Vomiting
Vomiting
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 303 23 0.100 None 0
CUI: C0038379
Disease: Strabismus
Strabismus
disease Eye Diseases; Nervous System Diseases Disease or Syndrome 716 89 0.100 None 0
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 429 74 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: C1836440
Disease: Increased serum lactate
Increased serum lactate
phenotype Nutritional and Metabolic Diseases Finding 169 2 0.100 None 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0
phenotype Finding 779 0.100 None 0
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE
phenotype Finding 477 0.100 None 0
CUI: C4551584
Disease: Brain atrophy
Brain atrophy
disease Nervous System Diseases Disease or Syndrome 182 46 0.100 None 0
Focal T2 hyperintense basal ganglia lesion
phenotype Finding 46 3 0.100 None 0
Decreased activity of mitochondrial respiratory chain
phenotype Finding 34 0.100 None 0
Focal T2 hyperintense brainstem lesion
phenotype Finding 33 2 0.100 None 0