| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.060 | Biomarker | disease | BEFREE | In summary, we present the first sporadic case of MEN1 with concomitant pheochromocytoma and duodenal NET which occurred 20 years apart. | 30181398 | 2018 | ||||
|
0.060 | 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 | ||||
|
0.060 | GeneticVariation | disease | BEFREE | LOH on chromosome 11q, but not SDHD and Men1 mutations was frequently detectable in Chinese patients with pheochromocytoma and paraganglioma. | 17526943 | 2006 | ||||
|
0.060 | AlteredExpression | disease | BEFREE | Although weak expression of MEN1 mRNA also was detected in pheochromocytoma on RT-PCR, menin expression was not detected in any case of pheochromocytoma by Western blot analysis, possibly due to the lower sensitivity of this assay compared with RT-PCR. | 11745215 | 2001 | ||||
|
0.060 | Biomarker | disease | BEFREE | MEN1 is characterized by parathyroid, pancreatic islet and anterior pituitary tumours, whilst MEN2 is characterized by medullary thyroid carcinoma (MTC) in association with phaeochromocytoma. | 11786689 | 2001 | ||||
|
0.060 | Biomarker | disease | BEFREE | Extension of the screening program can now be anticipated for other inherited forms of MTC, such as familial MTC without pheochromocytoma or other endocrinological tumor syndromes such as MEN1 for which the locus has also recently been mapped. | 2575577 | 1989 |