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GENE - TERM ANNOTATION REPORT

RGD ID: 1560322
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Amer1
Name: APC membrane recruitment protein 1
Acc ID: DOID:0060886
Term: osteopathia striata with cranial sclerosis
Definition: An osteosclerosis characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss in females and fetal or neonatal lethality in males that has_material_basis_in mutation in the AMER1 gene on chromosome Xq11. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/19079258 "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)
Amer1 ISOAMER1 (Homo sapiens)7240710OMIM  
Amer1 ISOAMER1 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanismPMID:19079258
Amer1 ISOAMER1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: AMER1-related condition | ClinVar Annotator: match by term: Osteopathia striata with cranial sclerosisPMID:19079258 PMID:20209645 PMID:20950377 PMID:22043478 PMID:22716240 PMID:24033266 PMID:24728327 PMID:25741868 PMID:27369646 PMID:28492532 PMID:8723089 PMID:9327263 PMID:9383023
Amer1 ISSAmer1 (Mus musculus)13592920MouseDOOMIM:300373 
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