Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
gptkb:SOD1_gene
|
| gptkbp:associatedWith |
gptkb:ALS_type_1
amyotrophic lateral sclerosis |
| gptkbp:biologicalProcess |
superoxide dismutase activity
|
| gptkbp:discoveredBy |
gptkb:Rosen_et_al.
|
| gptkbp:discoveredIn |
1993
|
| gptkbp:encodes |
gptkb:ALS1_protein
|
| gptkbp:Entrez_Gene_ID |
6647
|
| gptkbp:foundIn |
gptkb:Homo_sapiens
|
| gptkbp:HGNC_ID |
gptkb:HGNC:11179
|
| https://www.w3.org/2000/01/rdf-schema#label |
ALS1 gene
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:locatedOnChromosome |
chromosome 21q22.1
|
| gptkbp:mutationAssociatedWith |
gptkb:familial_amyotrophic_lateral_sclerosis
nonsense deletion insertion missense |
| gptkbp:OMIM |
105400
|
| gptkbp:UniProtID |
gptkb:P00441
|
| gptkbp:bfsParent |
gptkb:ALS1
|
| gptkbp:bfsLayer |
6
|