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GENE - TERM ANNOTATION REPORT

RGD ID: 1305252
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Rnf135
Name: ring finger protein 135
Acc ID: DOID:0060403
Term: chromosome 17q11.2 deletion syndrome
Definition: A chromosomal deletion syndrome that has_material_basis_in a contiguous gene deletion on 17q11.2 that includes the NF1 gene. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/10631140/ "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)
Rnf135 ISORNF135 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanismPMID:17632510
Rnf135 ISORNF135 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Chromosome 17q11.2 deletion syndrome, 1.4Mb | ClinVar Annotator: match by term: Macrocephaly, macrosomia, facial dysmorphism syndromePMID:17632510 PMID:21681106 PMID:25741868 PMID:27535533 PMID:28135719 PMID:30665703 PMID:30763456
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