Statements (11)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
mutant
|
| gptkbp:aminoAcidChange |
Aspartic acid to Alanine at position 90
|
| gptkbp:associatedWith |
amyotrophic lateral sclerosis
|
| gptkbp:foundIn |
humans
|
| https://www.w3.org/2000/01/rdf-schema#label |
D90A
|
| gptkbp:inheritance |
autosomal dominant
autosomal recessive |
| gptkbp:notableFor |
variable penetrance
|
| gptkbp:regulates |
gptkb:SOD1
|
| gptkbp:bfsParent |
gptkb:SOD1
|
| gptkbp:bfsLayer |
5
|