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GENE - TERM ANNOTATION REPORT

RGD ID: 1305598
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Gba2
Name: glucosylceramidase beta 2
Acc ID: DOID:0111597
Term: distal arthrogryposis type 1A
Definition: A distal arthrogryposis type 1 that has_material_basis_in heterozygous mutation in the TPM2 gene on chromosome 9p13.3. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/12592607 "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)
Gba2 ISOGBA2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Arthrogryposis, distal, type 1APMID:28492532
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