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GENE - TERM ANNOTATION REPORT

CRRD ID: 1304726
Species: Rattus norvegicus
CRRD Object: Gene
Symbol: Smarce1
Name: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1
Acc ID: DOID:9007071
Term: Hereditary Neoplastic Syndromes
Definition: The condition of a pattern of malignancies within a family, but not every individual's necessarily having the same neoplasm. Characteristically the tumor tends to occur at an earlier than average age, individuals may have more than one primary tumor, the tumors may be multicentric, usually more than 25 percent of the individuals in direct lineal descent from the proband are affected, and the cancer predisposition in these families behaves as an autosomal dominant trait with about 60 percent penetrance.
Definition Source(s): MESH:D009386
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.
QualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
 ISORGD:13137438554872ClinVarClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome

 
 ISORGD:13137438554872ClinVarClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome

PMID:23198860, PMID:27149204, PMID:28492532
 ISORGD:13137438554872ClinVarClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome

PMID:24487276, PMID:25169753, PMID:25741868, PMID:28492532
 ISORGD:13137438554872ClinVarClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome

PMID:25169753, PMID:26552009, PMID:28492532
 ISORGD:13137438554872ClinVarClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome

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.