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GENE - TERM ANNOTATION REPORT

RGD ID: 11668232
Species: Pan paniscus
RGD Object: Gene
Symbol: DIPK1A
Name: divergent protein kinase domain 1A
Acc ID: DOID:0111895
Term: Diamond-Blackfan anemia 1
Definition: A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS19 gene on chromosome 19q13.2. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/9988267/ "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: Diamond-Blackfan anemia 1PMID:19061985 PMID:19191325 PMID:19773262 PMID:20054847 PMID:20960466 PMID:23718193 PMID:25741868 PMID:28492532
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