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GENE - TERM ANNOTATION REPORT

RGD ID: 2179
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Atp7a
Name: ATPase copper transporting alpha
Acc ID: DOID:0111272
Term: occipital horn syndrome
Definition: A metal metabolism disorder characterized by hyperelastic and bruisable skin, hernias, bladder diverticula, hyperextensible joints, varicosities, abnormal copper transport, and multiple skeletal abnormalities that has_material_basis_in X-linked recessive inheritance of mutations in ATP7A on Xq21.1. This disorder is allelic to Menkes disease. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/7842019 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/7887410 "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 (Mus musculus)11340205RGDDNA:snp:intron:c.2553+3A>C (mouse) 
Atp7a ISOATP7A (Homo sapiens)11252184RGDDNA:transversion:intron:g.IVS10+3A>T (human) 
Atp7a ISOATP7A (Homo sapiens)7240710OMIM  
Atp7a ISOATP7A (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Atp7a ISOATP7A (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cutis laxa, X-linked | ClinVar Annotator: match by term: EDS IX | ClinVar Annotator: match by term: Occipital horn syndromePMID:10319589 PMID:10570920 PMID:10739752 PMID:11241493 PMID:11350187 PMID:11431706 PMID:15596607 PMID:15981243 PMID:16083905 PMID:16199547 PMID:17108763 PMID:18414213 PMID:19153371 PMID:20045993 PMID:20170900 PMID:20652413 PMID:20799318 PMID:21208200 PMID:21494555 PMID:21716286 PMID:22210628 PMID:22552817 PMID:23281160 PMID:24033266 PMID:24919650 PMID:25741868 PMID:28119449 PMID:28492532 PMID:29653220 PMID:7842019 PMID:8149649 PMID:8981948 PMID:9246006
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