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GENE - TERM ANNOTATION REPORT

RGD ID: 11759896
Species: Pan paniscus
RGD Object: Gene
Symbol: B3GALNT2
Name: beta-1,3-N-acetylgalactosaminyltransferase 2
Acc ID: DOID:630
Term: genetic disease
Definition: A disease that has_material_basis_in genetic variations in the human genome. (DO)
Definition Source(s): http://ghr.nlm.nih.gov/ "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)
B3GALNT2 ISOB3GALNT2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Inborn genetic diseasesPMID:12389028 PMID:15645691 PMID:16199547 PMID:17576681 PMID:2001103 PMID:23453667 PMID:25741868 PMID:27666369 PMID:28492532 PMID:31130284 PMID:7538982 PMID:9475091 PMID:9536098
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