Statements (21)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:aminoAcidAtPosition112 |
Cys
|
| gptkbp:aminoAcidAtPosition158 |
Cys
|
| gptkbp:aminoAcidChange |
Cys112, Cys158
|
| gptkbp:associatedWith |
gptkb:type_III_hyperlipoproteinemia
lower risk of Alzheimer's disease |
| gptkbp:containsGene |
gptkb:APOE
|
| gptkbp:distinctFrom |
gptkb:APOE_ε3
gptkb:APOE_ε4 |
| gptkbp:effectOnLipidMetabolism |
reduced binding to LDL receptor
|
| gptkbp:encodes |
gptkb:apolipoprotein_E2
|
| gptkbp:frequency |
~8% (varies by ethnicity)
|
| https://www.w3.org/2000/01/rdf-schema#label |
APOE ε2
|
| gptkbp:locatedOnChromosome |
19q13.32
|
| gptkbp:protectedBy |
gptkb:Alzheimer's_disease
|
| gptkbp:riskFactor |
gptkb:type_III_hyperlipoproteinemia
|
| gptkbp:rsID |
gptkb:rs7412
|
| gptkbp:variant |
gptkb:APOE
|
| gptkbp:bfsParent |
gptkb:APOE_gene
gptkb:apolipoprotein_E |
| gptkbp:bfsLayer |
6
|