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GENE - TERM ANNOTATION REPORT

RGD ID: 621006
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Atp6v0a2
Name: ATPase H+ transporting V0 subunit a2
Acc ID: DOID:0080564
Term: congenital disorder of glycosylation Il
Definition: A congenital disorder of glycosylation I that is characterized by progressive microcephaly, hypotonia, developmental delay, drug-resistant infantile epilepsy, and hepatomegaly and has_material_basis_in homozygous mutation in the ALG9 gene on chromosome 11q23. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/26453364 "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)
Atp6v0a2 ISOATP6V0A2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: ALG9 congenital disorder of glycosylation | ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IlPMID:15657616 PMID:16199547 PMID:17576681 PMID:18157129 PMID:19321599 PMID:20301755 PMID:22773132 PMID:23806237 PMID:23963297 PMID:25741868 PMID:26467025 PMID:27896089 PMID:28294978 PMID:28492532 PMID:29419872 PMID:31980526 PMID:9536098
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