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: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		phenotype Finding 779 0.100 None 0
CUI: C1836003
Disease: Facial diplegia
Facial diplegia 		phenotype Infections; Nervous System Diseases; Stomatognathic Diseases Finding 42 4 0.100 None 0
CUI: C1698196
Disease: Muscle Weakness Upper Limb
Muscle Weakness Upper Limb 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 29 3 0.100 None 0
CUI: C1263857
Disease: Peripheral axonal neuropathy
Peripheral axonal neuropathy 		disease Nervous System Diseases Disease or Syndrome 94 12 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: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		disease Nervous System Diseases Disease or Syndrome 187 126 0.100 None 0 1
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		phenotype Pathologic Function 306 12 0.100 None 0
CUI: C0427149
Disease: Gait, Drop Foot
Gait, Drop Foot 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 51 5 0.100 None 0
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		phenotype Finding 271 106 0.100 None 0
CUI: C0424230
Disease: Motor retardation
Motor retardation 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Finding 98 8 0.100 None 0
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 385 49 0.100 None 0
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		disease Mental Disorders Mental or Behavioral Dysfunction 1630 348 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: C1836830
Disease: Developmental regression
Developmental regression 		disease Mental Disorders Disease or Syndrome 333 80 0.100 None 0
CUI: C4024946
Disease: Focal white matter lesions
Focal white matter lesions 		phenotype Pathological Conditions, Signs and Symptoms Finding 14 2 0.100 None 0
CUI: C4024612
Disease: Tibialis muscle weakness
Tibialis muscle weakness 		phenotype Finding 5 0.100 None 0
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		phenotype Anatomical Abnormality 104 131 0.100 None 0 1
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: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		phenotype Finding 779 0.100 None 0
CUI: C1867864
Disease: Poor fine motor coordination
Poor fine motor coordination 		phenotype Finding 31 3 0.100 None 0
CUI: C1866141
Disease: Foot dorsiflexor weakness
Foot dorsiflexor weakness 		phenotype Finding 70 4 0.100 None 0
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		phenotype Finding 319 0.100 None 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 955 164 0.100 None 0
CUI: C1849148
Disease: Decreased sensory nerve conduction velocity
Decreased sensory nerve conduction velocity 		phenotype Finding 15 0.100 None 0