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GENE - TERM ANNOTATION REPORT

RGD ID: 12383407
Species: Canis lupus familiaris
RGD Object: Gene
Symbol: LOC100855558
Name: hemoglobin subunit alpha-like
Acc ID: DOID:0110031
Term: hemoglobin H disease
Definition: An alpha thalassemia that has_material_basis_in contiguous gene deletion of the hemoglobin alpha-1 (HBA1) and alpha-2 (HBA2) genes on one chromosome 16, and a defect, deletional or nondeletional, in either HBA1 or HBA2 on the other. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/12393486 "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
LOC100855558 ISOHBA2 (Homo sapiens)7240710OMIM  
LOC100855558 ISOHBA2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hemoglobin H disease | ClinVar Annotator: match by term: Hemoglobin H disease, nondeletionalPMID:10722113 PMID:11410420 PMID:11570724 PMID:11836160 PMID:12393486 PMID:12403487 PMID:1281602 PMID:15182058 PMID:1581238 PMID:16116675 PMID:1634361 PMID:1686260 PMID:17164653 PMID:1787098 PMID:18473243 PMID:20507641 PMID:20854116 PMID:21077766 PMID:21077767 PMID:21599435 PMID:21637442 PMID:22452522 PMID:22881835 PMID:2298455 PMID:23094635 PMID:23181747 PMID:2372512 PMID:23901141 PMID:24081251 PMID:24200101 PMID:2468982 PMID:24829075 PMID:25523870 PMID:25741868 PMID:25818820 PMID:25892676 PMID:25897478 PMID:25976777 PMID:26035111 PMID:26193976 PMID:26467025 PMID:26715484 PMID:26956449 PMID:27207683 PMID:27271331 PMID:27577202 PMID:28125089 PMID:28244614 PMID:28492532 PMID:28506685 PMID:29219637 PMID:29477874 PMID:29627922 PMID:30615015 PMID:31111755 PMID:31113390 PMID:31286593 PMID:3177365 PMID:31933393 PMID:32019385 PMID:32338097 PMID:32860378 PMID:32925409 PMID:3384694 PMID:34272389 PMID:34426522 PMID:35314707 PMID:36052950 PMID:3620699 PMID:36459106 PMID:4422784 PMID:4623704 PMID:4944483 PMID:6153381 PMID:6725554 PMID:7327587 PMID:7502632 PMID:7701914 PMID:7734346 PMID:7969150 PMID:8136277 PMID:8193381 PMID:8537235 PMID:8555062 PMID:8602995 PMID:9057661 PMID:9322079 PMID:9629496
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