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GENE - TERM ANNOTATION REPORT

RGD ID: 12357080
Species: Canis lupus familiaris
RGD Object: Gene
Symbol: MAPK8IP1
Name: mitogen-activated protein kinase 8 interacting protein 1
Acc ID: DOID:0070255
Term: congenital disorder of glycosylation type IIc
Definition: A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the SLC35C1 gene on chromosome 11p11.2. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/10590041 "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)
MAPK8IP1 ISOMAPK8IP1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Rambam Hasharon syndromePMID:16455955 PMID:24403049 PMID:28492532
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