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GENE - TERM ANNOTATION REPORT

RGD ID: 12491504
Species: Ictidomys tridecemlineatus
RGD Object: Gene
Symbol: Ift80
Name: intraflagellar transport 80
Acc ID: DOID:0110085
Term: asphyxiating thoracic dystrophy 1
Definition: An asphyxiating thoracic dystrophy associated with variation in the region 15q13. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/20503315 "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)
Ift80 ISOIFT80 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndromePMID:17576681 PMID:25741868 PMID:28492532 PMID:29068549 PMID:9536098
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