Statements (13)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:aminoAcidChange |
glutamic acid to lysine
G to A at codon 26 |
| gptkbp:associatedWith |
Hemoglobin E
|
| https://www.w3.org/2000/01/rdf-schema#label |
CD26 (HbE mutation)
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
point mutation
|
| gptkbp:OMIM |
613985
|
| gptkbp:prevalence |
high in Southeast Asia
|
| gptkbp:regulates |
gptkb:HBB
|
| gptkbp:significance |
causes Hemoglobin E disease
|
| gptkbp:bfsParent |
gptkb:P20226
|
| gptkbp:bfsLayer |
7
|