CDKN1B, cyclin dependent kinase inhibitor 1B, 1027

N. diseases: 373; N. variants: 7
Disease: Multiple endocrine neoplasia type 4 ×
Source: BEFREE ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4274947
Disease: Multiple endocrine neoplasia type 4
Multiple endocrine neoplasia type 4 		0.330 GeneticVariation disease BEFREE Cyclin-dependent kinase inhibitor 1B (CDKN1B) pathogenic variants lead to multiple endocrine neoplasia type 4 (MEN4) syndrome, in which pituitary adenomas can occur. 31658440 2019
CUI: C4274947
Disease: Multiple endocrine neoplasia type 4
Multiple endocrine neoplasia type 4 		0.330 GeneticVariation disease BEFREE Multiple endocrine neoplasia type 4 (MEN 4) is a novel form of multiple endocrine neoplasia caused by mutations in the CDKN1B gene. 26762354 2016
CUI: C4274947
Disease: Multiple endocrine neoplasia type 4
Multiple endocrine neoplasia type 4 		0.330 GeneticVariation disease BEFREE Germline mutations in the aryl hydrocarbon receptor-interacting protein (AIP) gene and the p27(KIP1) encoding gene CDKN1B have been associated with two well-defined hereditary conditions, familial isolated pituitary adenoma (FIPA) and multiple endocrine neoplasia type 4 (MEN4). 20530095 2010