Source: ALL

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 6647
Gene Symbol: SOD1
SOD1 		superoxide dismutase 1 0.379 0.962 0.18
CUI: C0043352
Disease: Xerostomia
Xerostomia 		disease 0.100 None 0 0
Entrez Id: 6647
Gene Symbol: SOD1
SOD1 		superoxide dismutase 1 0.379 0.962 0.18
CUI: C0013404
Disease: Dyspnea
Dyspnea 		phenotype 0.100 None 0 0
Entrez Id: 6647
Gene Symbol: SOD1
SOD1 		superoxide dismutase 1 0.379 0.962 0.18
CUI: C0033790
Disease: Pseudobulbar Palsy
Pseudobulbar Palsy 		disease 0.100 None 0 0
Entrez Id: 6647
Gene Symbol: SOD1
SOD1 		superoxide dismutase 1 0.379 0.962 0.18
CUI: C0037315
Disease: Sleep Apnea Syndromes
Sleep Apnea Syndromes 		disease 0.100 None 0 0
Entrez Id: 6647
Gene Symbol: SOD1
SOD1 		superoxide dismutase 1 0.379 0.962 0.18
CUI: C0522224
Disease: Paralysed
Paralysed 		phenotype 0.100 None 0 0
Entrez Id: 6647
Gene Symbol: SOD1
SOD1 		superoxide dismutase 1 0.379 0.962 0.18
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		phenotype 0.100 None 0 0
Entrez Id: 6647
Gene Symbol: SOD1
SOD1 		superoxide dismutase 1 0.379 0.962 0.18
CUI: C0746674
Disease: Generalized muscle weakness
Generalized muscle weakness 		phenotype 0.100 None 0 0
Entrez Id: 6647
Gene Symbol: SOD1
SOD1 		superoxide dismutase 1 0.379 0.962 0.18
CUI: C0027498
Disease: Nausea and vomiting
Nausea and vomiting 		phenotype 0.100 None 0 0
Entrez Id: 6647
Gene Symbol: SOD1
SOD1 		superoxide dismutase 1 0.379 0.962 0.18
CUI: C1963060
Disease: Agitation, CTCAE 3.0
Agitation, CTCAE 3.0 		phenotype 0.100 None 0 0
Entrez Id: 6647
Gene Symbol: SOD1
SOD1 		superoxide dismutase 1 0.379 0.962 0.18
CUI: C0023066
Disease: Laryngospasm
Laryngospasm 		disease 0.100 None 0 0
Entrez Id: 6647
Gene Symbol: SOD1
SOD1 		superoxide dismutase 1 0.379 0.962 0.18
CUI: C1843505
Disease: Degeneration of anterior horn cells
Degeneration of anterior horn cells 		phenotype 0.100 None 0 0
Entrez Id: 6647
Gene Symbol: SOD1
SOD1 		superoxide dismutase 1 0.379 0.962 0.18
CUI: C4022587
Disease: Fatigable weakness of respiratory muscles
Fatigable weakness of respiratory muscles 		phenotype 0.100 None 0 0
Entrez Id: 6647
Gene Symbol: SOD1
SOD1 		superoxide dismutase 1 0.379 0.962 0.18
CUI: C4022588
Disease: Fatigable weakness of swallowing muscles
Fatigable weakness of swallowing muscles 		phenotype 0.100 None 0 0
Entrez Id: 6647
Gene Symbol: SOD1
SOD1 		superoxide dismutase 1 0.379 0.962 0.18
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		phenotype 0.100 None 0 0
Entrez Id: 6647
Gene Symbol: SOD1
SOD1 		superoxide dismutase 1 0.379 0.962 0.18
CUI: C4552855
Disease: Agitation, CTCAE 5.0
Agitation, CTCAE 5.0 		phenotype 0.100 None 0 0
Entrez Id: 6647
Gene Symbol: SOD1
SOD1 		superoxide dismutase 1 0.379 0.962 0.18
CUI: C4552811
Disease: Generalized Muscle Weakness, CTCAE
Generalized Muscle Weakness, CTCAE 		phenotype 0.100 None 0 0
Entrez Id: 6647
Gene Symbol: SOD1
SOD1 		superoxide dismutase 1 0.379 0.962 0.18
CUI: C1846566
Disease: Degeneration of the lateral corticospinal tracts
Degeneration of the lateral corticospinal tracts 		phenotype 0.100 None 0 0
Entrez Id: 6647
Gene Symbol: SOD1
SOD1 		superoxide dismutase 1 0.379 0.962 0.18
CUI: C0085631
Disease: Agitation
Agitation 		phenotype 0.100 None 0 0
Entrez Id: 6647
Gene Symbol: SOD1
SOD1 		superoxide dismutase 1 0.379 0.962 0.18
CUI: C0037763
Disease: Spasm
Spasm 		phenotype 0.100 None 0 0
Entrez Id: 6647
Gene Symbol: SOD1
SOD1 		superoxide dismutase 1 0.379 0.962 0.18
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		phenotype 0.100 None 0 0
Entrez Id: 6647
Gene Symbol: SOD1
SOD1 		superoxide dismutase 1 0.379 0.962 0.18
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		disease 1.000 strong 0.980 294 46 1976 2019
Entrez Id: 6647
Gene Symbol: SOD1
SOD1 		superoxide dismutase 1 0.379 0.962 0.18
CUI: C0043116
Disease: HMN (Hereditary Motor Neuropathy) Proximal Type I
HMN (Hereditary Motor Neuropathy) Proximal Type I 		disease 0.020 None 1.000 2 0 1976 1982
Entrez Id: 6647
Gene Symbol: SOD1
SOD1 		superoxide dismutase 1 0.379 0.962 0.18
CUI: C0018609
Disease: Hartnup Disease
Hartnup Disease 		disease 0.010 None 1.000 1 0 1976 1976
Entrez Id: 6647
Gene Symbol: SOD1
SOD1 		superoxide dismutase 1 0.379 0.962 0.18
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.400 None 1.000 48 0 1977 2017
Entrez Id: 6647
Gene Symbol: SOD1
SOD1 		superoxide dismutase 1 0.379 0.962 0.18
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		disease 0.100 None 1.000 40 0 1980 2017