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GENE - TERM ANNOTATION REPORT

RGD ID: 18650275
Species: Chlorocebus sabaeus
RGD Object: Gene
Symbol: SEC11C
Name: SEC11 homolog C, signal peptidase complex subunit
Acc ID: DOID:0060842
Term: isolated microphthalmia 3
Definition: An isolated microphthalmia characterized by clinical anophthalmia and/or microphthalmia that has_material_basis_in compound heterozygous mutation in the RAX gene on chromosome 18q21. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/14662654 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/18783408 "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)
SEC11C ISOSEC11C (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Isolated microphthalmia 3PMID:14662654 PMID:18783408 PMID:19935664 PMID:21778431 PMID:24033328 PMID:26686525 PMID:28492532
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