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GENE - TERM ANNOTATION REPORT

RGD ID: 1552511
Species: Mus musculus
RGD Object: Gene
Symbol: Slc39a4
Name: solute carrier family 39 (zinc transporter), member 4
Acc ID: DOID:0050605
Term: acrodermatitis enteropathica
Definition: A metal metabolism disorder characterized by dermatitis around bodily openings and the tips of fingers and toes, alopecia and diarrhea and has_material_basis_in mutation in the SLC39A4 gene that encodes a zinc uptake protein and results in zinc deficiency. (DO)
Definition Source(s): https://en.wikipedia.org/wiki/Acrodermatitis_enteropathica "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)
Slc39a4 ISOSLC39A4 (Homo sapiens)1599005RGDDNA:deletions, snp, missense mutations:multiple (human) 
Slc39a4 ISOSLC39A4 (Homo sapiens)7240710OMIM  
Slc39a4 ISOSLC39A4 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanismPMID:12068297 PMID:14709598 PMID:15358787 PMID:17483098
Slc39a4 ISOSLC39A4 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hereditary acrodermatitis enteropathica | ClinVar Annotator: match by term: SLC39A4-related conditionPMID:11035780 PMID:11254458 PMID:12032886 PMID:12068297 PMID:12787121 PMID:12955721 PMID:14709598 PMID:16199547 PMID:16819703 PMID:19370757 PMID:20981092 PMID:21165302 PMID:21762381 PMID:24033266 PMID:25741868 PMID:26351177 PMID:28492532 PMID:31979155 PMID:33837739 PMID:34625996
Slc39a4 IAGP 13592920MouseDOOMIM:201100 
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