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GENE - TERM ANNOTATION REPORT

CRRD ID: 8833333
Species: Chinchilla lanigera
CRRD Object: Gene
Symbol: Hes7
Name: hes family bHLH transcription factor 7
Acc ID: DOID:3012
Term: Li-Fraumeni syndrome
Definition: Rare autosomal dominant syndrome characterized by mesenchymal and epithelial neoplasms at multiple sites. MUTATION of the p53 tumor suppressor gene, a component of the DNA DAMAGE response pathway, apparently predisposes family members who inherit it to develop certain cancers. The spectrum of cancers in the syndrome was shown to include, in addition to BREAST CANCER and soft tissue sarcomas (SARCOMA); BRAIN TUMORS; OSTEOSARCOMA; LEUKEMIA; and ADRENOCORTICAL CARCINOMA.
Definition Source(s): http://en.wikipedia.org/wiki/Li%E2%80%93Fraumeni_syndrome "DO", http://ghr.nlm.nih.gov/condition/li-fraumeni-syndrome "DO", MESH:D016864
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)
Hes7 ISORGD:147164649068941ClinVarClinVar Annotator: match by term: Li-Fraumeni syndrome

PMID:20522432, PMID:21056402, PMID:23172776, PMID:26681312, 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.