Statements (15)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alsoKnownAs |
rs2476601
|
| gptkbp:aminoAcidChange |
Arginine to Tryptophan at position 620
|
| gptkbp:associatedWith |
gptkb:systemic_lupus_erythematosus
type 1 diabetes autoimmune diseases rheumatoid arthritis |
| gptkbp:dbSNPID |
rs2476601
|
| gptkbp:effectOnProtein |
alters PTPN22 protein function
|
| https://www.w3.org/2000/01/rdf-schema#label |
R620W
|
| gptkbp:inheritance |
germline
|
| gptkbp:locatedOnChromosome |
gptkb:PTPN22
chromosome 1 |
| gptkbp:bfsParent |
gptkb:PTPN22
|
| gptkbp:bfsLayer |
7
|