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GENE - TERM ANNOTATION REPORT

RGD ID: 1307734
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Tbx1
Name: T-box transcription factor 1
Acc ID: DOID:11198
Term: DiGeorge syndrome
Definition: A syndrome that has_material_basis_in a large deletion of the chromosome 22q11.2 region which includes the DGS gene needed for development of the thymus and related glands with subsequent lack of T-cell production. (DO)
Definition Source(s): http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gnd&part=digeorgesyndrome "DO" "DO", https://ghr.nlm.nih.gov/condition/22q112-deletion-syndrome "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)
Tbx1 ISOTbx1 (Mus musculus)1578374RGD  
Tbx1 ISOTbx1 (Mus musculus)9590333RGD  
Tbx1 ISOTbx1 (Mus musculus)155641238RGD  
Tbx1 ISOTBX1 (Homo sapiens)7240710OMIM  
Tbx1 ISOTBX1 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanismPMID:15190012 PMID:16399080 PMID:17000704
Tbx1 ISOTBX1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Autosomal dominant Opitz G/BBB syndrome | ClinVar Annotator: match by term: Catch22 | ClinVar Annotator: match by term: DiGeorge Syndrome | ClinVar Annotator: match by term: DiGeorge sequence | ClinVar Annotator: match by term: DiGeorge syndrome | ClinVar Annotator: match by term: Familial third and fourth pharyngeal pouch syndrome | ClinVar Annotator: match by term: Thymic aplasia syndromePMID:11239417 PMID:11242049 PMID:11748311 PMID:14585638 PMID:15060116 PMID:15355425 PMID:15703190 PMID:16199547 PMID:17273972 PMID:17576681 PMID:18375573 PMID:19948535 PMID:20937753 PMID:21921585 PMID:24033266 PMID:24637876 PMID:24826987 PMID:24998776 PMID:25205790 PMID:25516202 PMID:25640679 PMID:25741868 PMID:25860641 PMID:26467025 PMID:26805781 PMID:26805782 PMID:27879657 PMID:28272434 PMID:28492532 PMID:28798025 PMID:29250159 PMID:29500247 PMID:30007050 PMID:30245509 PMID:30773290 PMID:31690835 PMID:32045288 PMID:32110744 PMID:32185379 PMID:32581362 PMID:33995479 PMID:34374102 PMID:9536098
Tbx1 ISOTBX1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Catch22 | ClinVar Annotator: match by term: DiGeorge sequence | ClinVar Annotator: match by term: DiGeorge syndrome | ClinVar Annotator: match by term: Familial third and fourth pharyngeal pouch syndrome | ClinVar Annotator: match by term: Thymic aplasia syndromePMID:11239417 PMID:11242049 PMID:11748311 PMID:14585638 PMID:15060116 PMID:15355425 PMID:15703190 PMID:16199547 PMID:17273972 PMID:17576681 PMID:18375573 PMID:19948535 PMID:20937753 PMID:21921585 PMID:24033266 PMID:24637876 PMID:24826987 PMID:24998776 PMID:25205790 PMID:25516202 PMID:25741868 PMID:25860641 PMID:26467025 PMID:26805781 PMID:26805782 PMID:27879657 PMID:28272434 PMID:28492532 PMID:28798025 PMID:29250159 PMID:29500247 PMID:30007050 PMID:30245509 PMID:30773290 PMID:31690835 PMID:32045288 PMID:32110744 PMID:32185379 PMID:32581362 PMID:33995479 PMID:34374102 PMID:9536098
Tbx1 ISOTBX1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Catch22 | ClinVar Annotator: match by term: DiGeorge Syndrome | ClinVar Annotator: match by term: DiGeorge sequence | ClinVar Annotator: match by term: DiGeorge syndrome | ClinVar Annotator: match by term: Familial third and fourth pharyngeal pouch syndrome | ClinVar Annotator: match by term: Thymic aplasia syndromePMID:11239417 PMID:11242049 PMID:11748311 PMID:14585638 PMID:15060116 PMID:15355425 PMID:15703190 PMID:16199547 PMID:17273972 PMID:17576681 PMID:18375573 PMID:19948535 PMID:20453311 PMID:20937753 PMID:21921585 PMID:24033266 PMID:24637876 PMID:24826987 PMID:24998776 PMID:25205790 PMID:25516202 PMID:25640679 PMID:25741868 PMID:25860641 PMID:26467025 PMID:26805781 PMID:26805782 PMID:27879657 PMID:28272434 PMID:28492532 PMID:28798025 PMID:29250159 PMID:29500247 PMID:29915097 PMID:30007050 PMID:30137364 PMID:30245509 PMID:30773290 PMID:31690835 PMID:32045288 PMID:32110744 PMID:32185379 PMID:32581362 PMID:33057194 PMID:33995479 PMID:34374102 PMID:37432431 PMID:9536098
Tbx1 ISSTbx1 (Mus musculus)13592920MouseDOOMIM:188400 
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