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GENE - TERM ANNOTATION REPORT

RGD ID: 12132377
Species: Canis lupus familiaris
RGD Object: Gene
Symbol: RAB3GAP2
Name: RAB3 GTPase activating non-catalytic protein subunit 2
Acc ID: DOID:0110717
Term: Warburg micro syndrome 2
Definition: A Warburg micro syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the RAB3GAP2 gene on chromosome 1q41. (DO)
Definition Source(s): PMID:20967465 "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)
RAB3GAP2 ISORAB3GAP2 (Homo sapiens)7240710OMIM  
RAB3GAP2 ISORAB3GAP2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: MICRO SYNDROME 2 | ClinVar Annotator: match by term: Warburg micro syndrome 2PMID:16199547 PMID:20967465 PMID:23420520 PMID:24033266 PMID:25741868 PMID:28492532 PMID:29300443 PMID:32740904 PMID:32870266
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