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.
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27
disease Disease or Syndrome 1 3 0.700 None 1.000 3 3 2014 2018
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease Nervous System Diseases Disease or Syndrome 187 126 0.110 None 1.000 1 2015 2015
CUI: C4476822
Disease: Hypoplastic hippocampus
Hypoplastic hippocampus
disease Congenital Abnormality 7 1 0.100 None 0
CUI: C1854699
Disease: Diffuse cerebellar atrophy
Diffuse cerebellar atrophy
phenotype Finding 17 4 0.100 None 0
CUI: C1850415
Disease: Microvesicular hepatic steatosis
Microvesicular hepatic steatosis
phenotype Digestive System Diseases Finding 11 0.100 None 0
CUI: C1847514
Disease: Postnatal microcephaly
Postnatal microcephaly
phenotype Finding 62 0.100 None 0
CUI: C1839630
Disease: Severe muscular hypotonia
Severe muscular hypotonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 75 9 0.100 None 0
CUI: C1839364
Disease: Progressive visual loss
Progressive visual loss
phenotype Finding 77 11 0.100 None 0
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease Mental Disorders Disease or Syndrome 333 80 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: 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: C1854882
Disease: Absent speech
Absent speech
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 232 72 0.100 None 0
CUI: C1867138
Disease: Upper limb postural tremor
Upper limb postural tremor
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 8 0.100 None 0
Decreased activity of mitochondrial complex I
phenotype Finding 41 3 0.100 None 0
CUI: C4021759
Disease: Generalized myoclonic seizures
Generalized myoclonic seizures
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 105 8 0.100 None 0
CUI: C4021219
Disease: Multifocal epileptiform discharges
Multifocal epileptiform discharges
phenotype Finding 52 9 0.100 None 0
EEG with periodic lateralized epileptiform discharges
phenotype Finding 1 0.100 None 0
Decreased activity of mitochondrial complex IV
phenotype Finding 6 0.100 None 0
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.100 None 0
CUI: C3665347
Disease: Visual Impairment
Visual Impairment
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 422 0.100 None 0
CUI: C3281034
Disease: Multifocal seizures
Multifocal seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 4 0.100 None 0
CUI: C3275417
Disease: Ragged-red muscle fibers
Ragged-red muscle fibers
phenotype Finding 59 1 0.100 None 0
Decreased activity of mitochondrial complex III
phenotype Finding 5 0.100 None 0
CUI: C0856975
Disease: Autistic behavior
Autistic behavior
disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 261 78 0.100 None 0
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties
phenotype Finding 473 62 0.100 None 0