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GENE - TERM ANNOTATION REPORT

RGD ID: 1318436
Species: Mus musculus
RGD Object: Gene
Symbol: Dipk1a
Name: divergent protein kinase domain 1A
Acc ID: DOID:1339
Term: Diamond-Blackfan anemia
Definition: A congenital hypoplastic anemia that is characterized by anemia (low red blood cell counts) with decreased erythroid progenitors in the bone marrow and has_material_basis_insufficient levels of red blood cells due to bone marrow dysfunction. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Diamond%E2%80%93Blackfan_anemia "DO" "DO", http://ghr.nlm.nih.gov/condition/diamond-blackfan-anemia "DO" "DO", http://www.cdc.gov/ncbddd/dba/ "DO" "DO", http://www.omim.org/entry/105650 "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)
Dipk1a ISODIPK1A (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia | ClinVar Annotator: match by term: Red cell aplasia, pure hereditaryPMID:16199547 PMID:17576681 PMID:19061985 PMID:19191325 PMID:19773262 PMID:20054847 PMID:20960466 PMID:22689679 PMID:23718193 PMID:23744582 PMID:25741868 PMID:25946618 PMID:27432187 PMID:28492532 PMID:28694211 PMID:28991257 PMID:30183354 PMID:30503522 PMID:9536098
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