Statements (18)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects |
gptkb:SOD1_gene
|
| gptkbp:associatedWith |
amyotrophic lateral sclerosis
|
| gptkbp:cause |
gptkb:familial_ALS
motor neuron degeneration |
| gptkbp:detects |
genetic testing
|
| gptkbp:discoveredIn |
1993
|
| gptkbp:firstReported |
gptkb:Rosen_et_al.
|
| gptkbp:foundIn |
humans
other mammals |
| gptkbp:frequency |
rare
|
| https://www.w3.org/2000/01/rdf-schema#label |
SOD1 gene mutation
|
| gptkbp:impact |
superoxide dismutase activity
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:result |
toxic gain of function
|
| gptkbp:studiedBy |
gptkb:transgenic_mouse_models
|
| gptkbp:bfsParent |
gptkb:familial_ALS
|
| gptkbp:bfsLayer |
6
|