Statements (27)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
hemoglobin
|
| gptkbp:aminoAcidChange |
glutamic acid to lysine at position 26
|
| gptkbp:associatedWith |
gptkb:hemoglobin_E/beta-thalassemia
gptkb:hemoglobin_E_disease |
| gptkbp:discoveredBy |
gptkb:H._Lehmann
|
| gptkbp:discoveredIn |
1954
|
| gptkbp:Entrez_Gene_ID |
rs33950507
|
| gptkbp:foundIn |
humans
|
| gptkbp:HBBGeneMutation |
GAG to AAG at codon 26
|
| https://www.w3.org/2000/01/rdf-schema#label |
hemoglobin E
|
| gptkbp:ICD-10_code |
D55-D59
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
gptkb:beta-globin_gene
point mutation |
| gptkbp:OMIM |
140600
|
| gptkbp:prevalence |
gptkb:Bangladesh
gptkb:Cambodia gptkb:Laos gptkb:Southeast_Asia gptkb:Thailand gptkb:Vietnam gptkb:Northeast_India |
| gptkbp:significance |
microcytosis
target cells in blood smear usually mild anemia |
| gptkbp:bfsParent |
gptkb:hemoglobin
|
| gptkbp:bfsLayer |
5
|