Statements (14)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:alsoKnownAs |
Hemoglobin C mutation
|
| gptkbp:aminoAcidChange |
glutamic acid to lysine at position 6 (E6K)
|
| gptkbp:associatedWith |
Hemoglobin C disease
|
| https://www.w3.org/2000/01/rdf-schema#label |
CD39 (HbC mutation)
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:locatedOnChromosome |
gptkb:11p15.5
|
| gptkbp:mutationAssociatedWith |
missense mutation
|
| gptkbp:OMIM |
141900
|
| gptkbp:prevalence |
West African populations
|
| gptkbp:regulates |
gptkb:HBB
|
| gptkbp:result |
Hemoglobin C
|
| gptkbp:bfsParent |
gptkb:P20226
|
| gptkbp:bfsLayer |
7
|