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GENE - TERM ANNOTATION REPORT

RGD ID: 3066
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Tpsab1
Name: tryptase alpha/beta 1
Acc ID: DOID:0110097
Term: short-rib thoracic dysplasia 9 with or without polydactyly
Definition: An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the IFT140 gene on chromosome 16p13. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/22503633 "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)
Tpsab1 ISOTPSAB1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Saldino-Mainzer syndromePMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532
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