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: C1853398
Disease: Spasticity of pharyngeal muscles
Spasticity of pharyngeal muscles 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 1 0.100 None 0
CUI: C4551583
Disease: Cerebral cortical atrophy
Cerebral cortical atrophy 		disease Disease or Syndrome 271 13 0.100 None 0
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		phenotype Anatomical Abnormality 56 29 0.100 None 0
CUI: C4025723
Disease: Abnormal upper motor neuron morphology
Abnormal upper motor neuron morphology 		disease Anatomical Abnormality 20 1 0.100 None 0
CUI: C4025720
Disease: Pseudobulbar behavioral symptoms
Pseudobulbar behavioral symptoms 		phenotype Behavior and Behavior Mechanisms Sign or Symptom 5 0.100 None 0
CUI: C4025704
Disease: Abnormality of the corticospinal tract
Abnormality of the corticospinal tract 		phenotype Anatomical Abnormality 5 0.100 None 0
CUI: C4025660
Disease: Abnormality of the ankles
Abnormality of the ankles 		disease Anatomical Abnormality 17 1 0.100 None 0 1
CUI: C4025614
Disease: EMG: chronic denervation signs
EMG: chronic denervation signs 		phenotype Finding 18 0.100 None 0
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		phenotype Finding 477 0.100 None 0
CUI: C1865412
Disease: Abnormal lower motor neuron morphology
Abnormal lower motor neuron morphology 		phenotype Finding 23 0.100 None 0
CUI: C1854494
Disease: Slow progression
Slow progression 		phenotype Finding 165 0.100 None 0
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype Mental Disorders Finding 384 34 0.100 None 0
CUI: C1853406
Disease: Difficulty in tongue movements
Difficulty in tongue movements 		phenotype Finding 8 0.100 None 0
CUI: C1853404
Disease: Spasticity of facial muscles
Spasticity of facial muscles 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 1 0.100 None 0
CUI: C0497202
Disease: Abnormal ocular motility
Abnormal ocular motility 		phenotype Finding 45 6 0.100 None 0
CUI: C0476403
Disease: Electromyogram abnormal
Electromyogram abnormal 		phenotype Finding 130 12 0.100 None 0
CUI: C0234517
Disease: Anarthria speech disorder
Anarthria speech disorder 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 11 2 0.100 None 0
CUI: C0234132
Disease: Pyramidal sign
Pyramidal sign 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 155 10 0.100 None 0
CUI: C0231687
Disease: Spastic gait
Spastic gait 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 62 9 0.100 None 0
CUI: C0034372
Disease: Quadriplegia
Quadriplegia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 57 3 0.100 None 0
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 539 19 0.100 None 0
CUI: C0151313
Disease: Sensory neuropathy
Sensory neuropathy 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 116 15 0.100 None 0
CUI: C0149632
Disease: Abnormality of the bladder
Abnormality of the bladder 		phenotype Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding 9 2 0.100 None 0
CUI: C0042024
Disease: Urinary Incontinence
Urinary Incontinence 		phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Pathologic Function 151 14 0.100 None 0
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		phenotype Finding 218 11 0.100 None 0