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GENE - TERM ANNOTATION REPORT

RGD ID: 733679
Species: Homo sapiens
RGD Object: Gene
Symbol: MAN2C1
Name: mannosidase alpha class 2C member 1
Acc ID: DOID:0060395
Term: chromosome 15q24 deletion syndrome
Definition: A chromosomal deletion syndrome that is characterized by dysmorphic facial features, intellectual disability and seizure, has_material_basis_in autosomal dominant inheritance of mutation in the SIN3A gene causing partial deletion of the long arm of chromosome 15. (DO)
Definition Source(s): https://www.omim.org/entry/613406 "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)
MAN2C1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Witteveen-kolk syndromePMID:18755302 PMID:19557438 PMID:21681106
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