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GENE - TERM ANNOTATION REPORT

RGD ID: 2107
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Amelx
Name: amelogenin, X-linked
Acc ID: DOID:0110058
Term: amelogenesis imperfecta type 1E
Definition: An amelogenesis imperfecta that has_material_basis_in X-linked dominant mutation in the gene encoding amelogenin (AMELX). (DO)
Definition Source(s): https://ghr.nlm.nih.gov/condition/amelogenesis-imperfecta "DO" "DO", https://www.omim.org/entry/301200 "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)
Amelx ISOAMELX (Homo sapiens)7240710OMIM  
Amelx ISOAMELX (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Amelx ISOAMELX (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Amelogenesis imperfecta type 1E | ClinVar Annotator: match by term: Amelogenesis imperfecta, type 1E, with snow-capped teethPMID:10669095 PMID:11201048 PMID:11839357 PMID:11922868 PMID:1483698 PMID:15111628 PMID:1916828 PMID:1967204 PMID:23251683 PMID:25741868 PMID:3169793 PMID:4623931 PMID:5225441 PMID:7599636 PMID:8406474 PMID:9188994
Amelx ISSAmelx (Mus musculus)13592920MouseDOOMIM:301200 
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