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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:0110086
Term: asphyxiating thoracic dystrophy 2
Definition: An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the IFT80 gene on chromosome 3q25. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/17468754 "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)7240710OMIM  
Ift80 ISOIFT80 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 2 | ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 2 WITH OR WITHOUT POLYDACTYLYPMID:16199547 PMID:17468754 PMID:17576681 PMID:19610081 PMID:19648123 PMID:20301500 PMID:21227999 PMID:23339108 PMID:25741868 PMID:28492532 PMID:29068549 PMID:30266093 PMID:30767363 PMID:9536098
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