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: 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: C2931441
Disease: Hereditary spastic paralysis, infantile onset ascending
Hereditary spastic paralysis, infantile onset ascending 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 2 15 0.800 strong 1.000 17 14 2001 2018
CUI: C1853396
Disease: Primary lateral sclerosis juvenile
Primary lateral sclerosis juvenile 		disease Nervous System Diseases Disease or Syndrome 2 5 0.760 strong 1.000 10 5 2001 2018
CUI: C1862940
Disease: Amyotrophic Lateral Sclerosis, Autosomal Recessive
Amyotrophic Lateral Sclerosis, Autosomal Recessive 		disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 2 0.010 None 1.000 1 2003 2003
CUI: C4025704
Disease: Abnormality of the corticospinal tract
Abnormality of the corticospinal tract 		phenotype Anatomical Abnormality 5 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: C0521659
Disease: Motor Neuron Disease, Upper
Motor Neuron Disease, Upper 		disease Nervous System Diseases Disease or Syndrome 7 0.010 None 1.000 1 2006 2006
CUI: C1853406
Disease: Difficulty in tongue movements
Difficulty in tongue movements 		phenotype Finding 8 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: C0239830
Disease: Hand muscle atrophy
Hand muscle atrophy 		phenotype Finding 10 2 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: C0239043
Disease: Difficulty chewing
Difficulty chewing 		phenotype Finding 14 0.100 None 0
CUI: C1273957
Disease: Upper limb spasticity
Upper limb spasticity 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 14 1 0.100 None 0
CUI: C0393556
Disease: Complicated hereditary spastic paraplegia
Complicated hereditary spastic paraplegia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 16 0.010 None 1.000 1 2006 2006
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: C0154682
Disease: Lateral Sclerosis
Lateral Sclerosis 		disease Nervous System Diseases Disease or Syndrome 19 1 0.020 None 1.000 2 2008 2009
CUI: C3468114
Disease: Juvenile amyotrophic lateral sclerosis
Juvenile amyotrophic lateral sclerosis 		disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 20 1 0.390 None 1.000 10 2002 2018
CUI: C4025723
Disease: Abnormal upper motor neuron morphology
Abnormal upper motor neuron morphology 		disease Anatomical Abnormality 20 1 0.100 None 0
CUI: C1836479
Disease: Saccadic smooth pursuit
Saccadic smooth pursuit 		phenotype Finding 22 5 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: C0742038
Disease: Cerebellar signs
Cerebellar signs 		phenotype Sign or Symptom 24 5 0.010 None 1.000 1 2014 2014
CUI: C1859807
Disease: AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (disorder)
AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (disorder) 		disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 25 10 0.700 None 1.000 14 7 1999 2016
CUI: C0030360
Disease: Papillon-Lefevre Disease
Papillon-Lefevre Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 29 19 0.010 None 1.000 1 2019 2019