Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

GENE - TERM ANNOTATION REPORT

RGD ID: 69116
Species: Mus musculus
RGD Object: Gene
Symbol: Cdkn1b
Name: cyclin dependent kinase inhibitor 1B
Acc ID: DOID:0080137
Term: multiple endocrine neoplasia type 4
Definition: A multiple endocrine neoplasia that is characterized by hyperparathyroidism and multiple endocrine tumors and that has_material_basis_in mutations in the CDKN1B gene on chromosome 12p13 resulting in a reduction in the amount of functional p27 tumor suppressor protein which allows cells to grow and divide unchecked. (DO)
Definition Source(s): https://ghr.nlm.nih.gov/condition/multiple-endocrine-neoplasia "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)
Cdkn1b ISOCDKN1B (Homo sapiens)7240710OMIM  
Cdkn1b ISOCDKN1B (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Cdkn1b ISOCDKN1B (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV | ClinVar Annotator: match by term: Multiple endocrine neoplasia type 4PMID:11986963 PMID:15026335 PMID:15607373 PMID:16199547 PMID:17030811 PMID:17372254 PMID:17519308 PMID:17576681 PMID:18288099 PMID:19141585 PMID:20075119 PMID:20530095 PMID:20824794 PMID:21289244 PMID:21454826 PMID:21575944 PMID:22026581 PMID:22291433 PMID:22547391 PMID:23273568 PMID:23505216 PMID:23555276 PMID:24033266 PMID:24819502 PMID:25058500 PMID:25586243 PMID:25741868 PMID:26065650 PMID:26467025 PMID:26603463 PMID:26762354 PMID:26829051 PMID:2694462 PMID:26989398 PMID:27038812 PMID:27153395 PMID:27997549 PMID:28425505 PMID:28492532 PMID:28667701 PMID:28687353 PMID:28801450 PMID:29625052 PMID:29954938 PMID:30065701 PMID:30990521 PMID:31760486 PMID:31980526 PMID:32052251 PMID:32232325 PMID:32386678 PMID:32761341 PMID:33140857 PMID:3328816 PMID:33316141 PMID:34313605 PMID:34322384 PMID:34426522 PMID:35323929 PMID:35355569 PMID:36149413 PMID:36520683 PMID:9536098
Go Back to source page   Continue to Ontology report