Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1
0.400 Biomarker disease BEFREE The genetic syndromes associated with PHPT include multiple endocrine neoplasia type 1 (MEN1), MEN2A, and MEN4, hyperparathyroidism-jaw tumor syndrome, familial isolated PHPT, familial hypocalciuric hypercalcemia, and neonatal severe hyperparathyroidism. 30641515 2019
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1
0.400 GeneticVariation disease BEFREE Genotyping of the MEN1, cyclin-dependent kinase inhibitor 1B (CDKN1B) and aryl hydrocarbon receptor-interacting protein (AIP) genes using Sanger sequencing was carried out in a family with MEN1 and the resulting germline variants genotyped in an additional 95 ethnically matched controls. 29848728 2018
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1
0.400 Biomarker disease BEFREE The aim of this study was to carry out genetic screening of the MEN1, CDKN1B and AIP genes, both by direct sequencing of the coding region and multiplex ligation-dependent probe amplification (MLPA) assay in the largest monocentric series of Italian patients with Multiple Endocrine Neoplasia type 1 syndrome (MEN1) and Familial Isolated Hyperparathyroidism (FIHP). 29036195 2017
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1
0.400 Biomarker disease BEFREE We provide here a review of the clinical features and human molecular genetics of multiple endocrine neoplasia (MEN) type 1 and 4 (MEN1 and MEN4, respectively) and Carney complex (CNC). 25592387 2016
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1
0.400 Biomarker disease BEFREE Four different MEN syndromes have been so far identified: MEN type 1 (MEN1), MEN2A (also referred to as MEN2), MEN2B (or MEN3) and MEN4, which have slightly varying tumor spectra and are caused by mutations in different genes. 26184857 2016
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1
0.400 GeneticVariation disease ORPHANET In this study, we assessed whether the CDKN1B V109G polymorphism was associated with the development of aggressive tumours in 55 consecutive patients affected by MEN1. 25824098 2015
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1
0.400 GeneticVariation disease BEFREE In this study, we assessed whether the CDKN1B V109G polymorphism was associated with the development of aggressive tumours in 55 consecutive patients affected by MEN1. 25824098 2015
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1
0.400 GeneticVariation disease BEFREE Four major forms of MEN, which are autosomal dominant disorders, are recognized and referred to as: MEN type 1 (MEN1), due to menin mutations; MEN2 (previously MEN2A) due to mutations of a tyrosine kinase receptor encoded by the rearranged during transfection (RET) protoncogene; MEN3 (previously MEN2B) due to RET mutations; and MEN4 due to cyclin-dependent kinase inhibitor (CDNK1B) mutations. 23933118 2014
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1
0.400 GeneticVariation disease ORPHANET The aim of this study was to perform a genetic screening in our cohort or patients with suspected MEN1 syndrome by direct sequencing analysis of MEN1, CDKN1B and AIP, and dosage analysis of MEN1 and AIP. 22026581 2012
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1
0.400 GeneticVariation disease BEFREE Novel mutations in MEN1, CDKN1B and AIP genes in patients with multiple endocrine neoplasia type 1 syndrome in Spain. 22026581 2012
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1
0.400 AlteredExpression disease BEFREE Since information on the pathogenesis of MEN1 in malignant cases is limited, we conducted genetic analysis and compared the expression of menin, p27(Kip1)(p27)/CDKN1B and p18(Ink4C)(p18)/CDKN2C with levels in benign cases. 21441703 2011
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1
0.400 Biomarker disease BEFREE CDKN1B, encoding cyclin-dependent kinase inhibitor p27(kip1), has recently been implicated in a multiple endocrine tumor phenotype in rats and, rarely, in a human familial MEN1 (multiple endocrine neoplasia type 1)-like disorder. 21289244 2011
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1
0.400 GeneticVariation disease BEFREE To date, six germline CDKN1B mutations have been found in patients with a MEN1-like phenotype but negative for MEN1 mutations. 20980721 2011
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1
0.400 GeneticVariation disease BEFREE Mutation screening by conventional PCR sequence analysis of patients' peripheral blood DNA did not reveal any mutation in the MEN1 or CDKN1B gene. 21627674 2011
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1
0.400 AlteredExpression disease BEFREE The menin and p27(Kip1) expression levels were correlated with MEN1 mutation status that was confirmed by DNA analysis. 20616437 2010
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1
0.400 GeneticVariation disease BEFREE One case of Cushing's disease has been reported as part of MEN4, a rare MEN1-like syndrome due to mutation in the CDKN1B gene. 20829611 2010
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1
0.400 GeneticVariation disease BEFREE Although we have a limited number of patients in our cohort, our data is consistent with others in the literature suggesting that CDKN1B and AIP mutations are extremely rare in MEN1 syndrome. 18710468 2009
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1
0.400 GeneticVariation disease BEFREE The rarity of MEN1 mutations in some MEN1-like states aids the identification of other mutated genes, such as AIP, HRPT2 and p27(Kip1). 19407509 2009
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1
0.400 GeneticVariation disease BEFREE In multiple endocrine neoplasia type 1 (Men1), a mutation of menin caused decreased expression of the p27(Kip1) and p18(Ink4C) genes and deregulated cell growth. 19318494 2009
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1
0.400 Biomarker disease BEFREE This editorial summarizes some of these advances: the identification of the AIP, and the PDE11A and PDE8B genes by genome-wide association (GWA) studies as predisposing genes for pituitary and adrenal tumours, respectively, the discovery of p27 mutations in a new form of MEN similar to MEN type 1 (MEN 1) that is now known as MEN 4, the molecular investigations of Carney triad (CT), a disorder that associates paragangliomas (PGLs), gastrointestinal stromal tumour (GISTs), and pulmonary chondromas (PCH) with pheochromocytomas and adrenocortical adenomas and other lesions, and the molecular elucidation of the association of GISTs with paragangliomas (Carney-Stratakis syndrome) that is now known to be because of SDHB, SDHC, and SDHD mutations. 19522821 2009
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1
0.400 GeneticVariation disease BEFREE Inactivating mutations of CDKN1B, encoding the p27 cyclin-dependent kinase inhibitor, were reported to cause hyperparathyroidism in a multiple endocrine neoplasia type 1-like syndrome. 18288099 2008
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1
0.400 GeneticVariation disease BEFREE The parathyroid/pituitary variant of multiple endocrine neoplasia type 1 usually has causes other than p27Kip1 mutations. 17299066 2007
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1
0.400 GeneticVariation disease BEFREE We analyzed germline CDKN1B/p27(Kip1) mutations in individuals with pituitary adenoma and MEN1-like features. 17519308 2007