SOD1, superoxide dismutase 1, 6647

N. diseases: 689; N. variants: 68
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: C0085631
Disease: Agitation
Agitation
phenotype Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Sign or Symptom 109 4 0.100 None 0
CUI: C1843505
Disease: Degeneration of anterior horn cells
Degeneration of anterior horn cells
phenotype Nervous System Diseases Finding 15 0.100 None 0
CUI: C0023066
Disease: Laryngospasm
Laryngospasm
disease Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 48 0.100 None 0
CUI: C0037315
Disease: Sleep Apnea Syndromes
Sleep Apnea Syndromes
disease Respiratory Tract Diseases; Nervous System Diseases Disease or Syndrome 148 18 0.100 None 0
CUI: C0027498
Disease: Nausea and vomiting
Nausea and vomiting
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 257 11 0.100 None 0
CUI: C0746674
Disease: Generalized muscle weakness
Generalized muscle weakness
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 126 4 0.100 None 0
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy
phenotype Pathologic Function 306 12 0.100 None 0
CUI: C0522224
Disease: Paralysed
Paralysed
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 68 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: C0033790
Disease: Pseudobulbar Palsy
Pseudobulbar Palsy
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 13 0.100 None 0
CUI: C0037763
Disease: Spasm
Spasm
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 172 9 0.100 None 0
CUI: C0043352
Disease: Xerostomia
Xerostomia
disease Stomatognathic Diseases Finding 56 1 0.100 None 0
Degeneration of the lateral corticospinal tracts
phenotype Finding 21 0.100 None 0
CUI: C0013404
Disease: Dyspnea
Dyspnea
phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom 222 26 0.100 None 0
Fatigable weakness of swallowing muscles
phenotype Finding 39 0.100 None 0
CUI: C4552811
Disease: Generalized Muscle Weakness, CTCAE
Generalized Muscle Weakness, CTCAE
phenotype Finding 117 0.100 None 0
Fatigable weakness of respiratory muscles
phenotype Finding 60 0.100 None 0
CUI: C1963060
Disease: Agitation, CTCAE 3.0
Agitation, CTCAE 3.0
phenotype Finding 87 0.100 None 0
CUI: C4552855
Disease: Agitation, CTCAE 5.0
Agitation, CTCAE 5.0
phenotype Finding 87 0.100 None 0
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE
phenotype Finding 477 0.100 None 0
CUI: C0018609
Disease: Hartnup Disease
Hartnup Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases Disease or Syndrome 12 16 0.010 None 1.000 1 1976 1976
HMN (Hereditary Motor Neuropathy) Proximal Type I
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 34 8 0.020 None 1.000 2 1976 1982
CUI: C0026499
Disease: Monosomy
Monosomy
group Pathological Conditions, Signs and Symptoms Congenital Abnormality 214 11 0.010 None 1.000 1 1983 1983
CUI: C1297882
Disease: Partial Trisomy
Partial Trisomy
disease Pathological Conditions, Signs and Symptoms Congenital Abnormality 29 0.010 None 1.000 1 1986 1986
CUI: C2931257
Disease: Alzheimer disease type 1
Alzheimer disease type 1
disease Nervous System Diseases; Mental Disorders Disease or Syndrome 3 10 0.010 None 1.000 1 1989 1989