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GENE - TERM ANNOTATION REPORT

CRRD ID: 13982215
Species: Sus scrofa
CRRD Object: Gene
Symbol: TELO2
Name: telomere maintenance 2
Acc ID: DOID:0080325
Term: tuberous sclerosis 2
Definition: A tuberous sclerosis that is characterized by hamartomas in multiple organ systems and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the TSC2 gene, which encodes tuberin, on chromosome 16p13. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/28667702 "DO", https://www.omim.org/entry/613254 "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)
TELO2 ISORGD:147092029068941ClinVarClinVar Annotator: match by term: Tuberous sclerosis 2

PMID:28492532, PMID:29932062
TELO2 ISORGD:268985669068941ClinVarClinVar Annotator: match by term: Tuberous sclerosis 2

PMID:16114042, PMID:17287951, PMID:28492532
TELO2 ISORGD:268987219068941ClinVarClinVar Annotator: match by term: Tuberous sclerosis 2

PMID:16114042, PMID:17287951, PMID:28492532
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.