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GENE - TERM ANNOTATION REPORT

RGD ID: 620272
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Gli3
Name: GLI family zinc finger 3
Acc ID: DOID:14761
Term: Greig cephalopolysyndactyly syndrome
Definition: An acrocephalosyndactylia that has_material_basis_in mutation in the GLI3 gene which results_in abnormal development located_in limb, located_in head, located_in face. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Greig_cephalopolysyndactyly_syndrome "DO" "DO", http://ghr.nlm.nih.gov/condition/greig-cephalopolysyndactyly-syndrome "DO" "DO", http://rarediseases.info.nih.gov/GARD/Disease.aspx?PageID=4&diseaseID=6550 "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)
Gli3 ISOGLI3 (Homo sapiens)12738141RGDDNA:mutations:exon, intron:multiple 
Gli3 ISOGLI3 (Homo sapiens)12738205RGDDNA:mutations: :multiple 
Gli3 ISOGLI3 (Homo sapiens)12738208RGDDNA:nonsense mutations, missense mutations, splice-site mutations:exon, intron:multiple 
Gli3 ISOGLI3 (Homo sapiens)12738222RGDDNA:mutations:exon, intron:multiple 
Gli3 ISOGLI3 (Homo sapiens)7240710OMIM  
Gli3 ISOGLI3 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanismPMID:9302279 PMID:10441342 PMID:14608643 PMID:15739154 PMID:18154020 PMID:18241058
Gli3 ISOGLI3 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome | ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome, severe | ClinVar Annotator: match by term: Polysyndactyly with peculiar skull shapePMID:10441342 PMID:10441570 PMID:10678662 PMID:12414818 PMID:12794692 PMID:15739154 PMID:15811011 PMID:16199547 PMID:16740916 PMID:17576681 PMID:18000979 PMID:1879832 PMID:20583172 PMID:20672375 PMID:22903559 PMID:24736735 PMID:25606469 PMID:25640679 PMID:25741868 PMID:25741909 PMID:26508445 PMID:27231705 PMID:28127823 PMID:28224613 PMID:28492532 PMID:29236091 PMID:30235038 PMID:30773290 PMID:30993914 PMID:31399769 PMID:32591344 PMID:33304378 PMID:34482537 PMID:34906502 PMID:6641002 PMID:9302279 PMID:9536098
Gli3 ISSGli3 (Mus musculus)13592920MouseDOOMIM:175700 
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