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GENE - TERM ANNOTATION REPORT

RGD ID: 12690795
Species: Ictidomys tridecemlineatus
RGD Object: Gene
Symbol: Atp7a
Name: ATPase copper transporting alpha
Acc ID: DOID:0110030
Term: alpha thalassemia-X-linked intellectual disability syndrome
Definition: An alpha thalassemia that has_material_basis_in mutation in the ATRX gene on Xq21. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/1415255 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/7697714 "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)
Atp7a ISOATP7A (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Alpha thalassemia-X-linked intellectual disability syndromePMID:11241493 PMID:15591283 PMID:18409179 PMID:20652413 PMID:23681356 PMID:28492532
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