Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4221
Gene Symbol: MEN1
MEN1
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1
0.900 GeneticVariation UNIPROT The same pocket in menin binds both MLL and JUND but has opposite effects on transcription. 22327296

2012

Entrez Id: 4221
Gene Symbol: MEN1
MEN1
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1
0.900 GeneticVariation UNIPROT High frequencies of MEN1 gene mutations were detected in Brazilian families with MEN1, including seven new genetic mutations that are predicted to cause inactivation of the MEN1 tumour suppressor gene. 17555499

2007

Entrez Id: 4221
Gene Symbol: MEN1
MEN1
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1
0.900 GeneticVariation UNIPROT We have identified four novel mutations in the MEN1 gene in patients with MEN1 in Taiwan. 15730416

2005

Entrez Id: 4221
Gene Symbol: MEN1
MEN1
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1
0.900 GeneticVariation UNIPROT Clinical testing for multiple endocrine neoplasia type 1 in a DNA diagnostic laboratory. 15714081

2005

Entrez Id: 4221
Gene Symbol: MEN1
MEN1
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1
0.900 GeneticVariation UNIPROT The cellular function of the menin tumor suppressor protein, product of the MEN1 gene mutated in familial multiple endocrine neoplasia type 1, has not been defined. 14992727

2004

Entrez Id: 4221
Gene Symbol: MEN1
MEN1
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1
0.900 GeneticVariation UNIPROT Efficient mutation detection in MEN1 gene using a combination of single-strand conformation polymorphism (MDGA) and heteroduplex analysis. 12652570

2003

Entrez Id: 4221
Gene Symbol: MEN1
MEN1
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1
0.900 GeneticVariation UNIPROT A novel missense mutation of the MEN1 gene in a multiple endocrine neoplasia type 1 patient associated with carcinoid syndrome. 14686752

2003

Entrez Id: 4221
Gene Symbol: MEN1
MEN1
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1
0.900 GeneticVariation UNIPROT Screening of the genetic variations of the MEN1 gene revealed four germline mutations in five typical MEN1 families. 12791038

2003

Entrez Id: 4221
Gene Symbol: MEN1
MEN1
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1
0.900 GeneticVariation UNIPROT Mutational and gross deletion study of the MEN1 gene and correlation with clinical features in Spanish patients. 12746426

2003

Entrez Id: 4221
Gene Symbol: MEN1
MEN1
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1
0.900 GeneticVariation UNIPROT Multiple endocrine neoplasia type 1 (MEN1) germline mutations in familial isolated primary hyperparathyroidism. 12699448

2003

Entrez Id: 4221
Gene Symbol: MEN1
MEN1
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1
0.900 GeneticVariation UNIPROT A novel six-nucleotide insertion in exon 4 of the MEN1 gene, 878insCTGCAG, in three patients with familial insulinoma and primary hyperparathyroidism. 12417605

2002

Entrez Id: 4221
Gene Symbol: MEN1
MEN1
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1
0.900 GeneticVariation UNIPROT Frequent occurrence of an intron 4 mutation in multiple endocrine neoplasia type 1. 12050235

2002

Entrez Id: 4221
Gene Symbol: MEN1
MEN1
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1
0.900 GeneticVariation UNIPROT Taken together, most missense and in-frame MEN1 genomic alterations affect one or all domains of menin interacting with JunD [codons 1-40; 139-242; 323-428], Smad3 [distal to codon 478], and NFkappaB [codons 276-479], three major effectors in transcription and cell growth regulation. 12112656

2002

Entrez Id: 4221
Gene Symbol: MEN1
MEN1
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1
0.900 GeneticVariation UNIPROT Identification of three novel menin mutations (c.741delGTCA, c.1348T>C, c.1785delA) in unrelated Italian families affected with multiple endocrine neoplasia type 1: Additional information for mutational screening. 11241849

2001

Entrez Id: 4221
Gene Symbol: MEN1
MEN1
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1
0.900 GeneticVariation UNIPROT MEN1 gene mutation analysis in Italian patients with multiple endocrine neoplasia type 1. 10664520

2000

Entrez Id: 4221
Gene Symbol: MEN1
MEN1
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1
0.900 GeneticVariation UNIPROT Based on our clinical experience with MEN 1 patients/families we formulated clinical criteria to identify disease gene carriers among patients with apparently sporadic MEN 1-related tumours. 10849016

2000

Entrez Id: 4221
Gene Symbol: MEN1
MEN1
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1
0.900 GeneticVariation UNIPROT A better understanding of early onset MEN 1 disease is needed to formulate recommendations for early MEN 1 genetic testing. 11134142

2000

Entrez Id: 4221
Gene Symbol: MEN1
MEN1
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1
0.900 GeneticVariation UNIPROT The entire coding region of the MEN1 gene was sequenced, and mutations were detected in 11 MEN 1 families; one sporadic MEN 1 patient, one case of FIHPT and one MEN 1-like case. 10993647

2000

Entrez Id: 4221
Gene Symbol: MEN1
MEN1
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1
0.900 GeneticVariation UNIPROT A novel mutation E179K of the MEN1 gene predisposes for multiple endocrine neoplasia-type 1 (MEN1). 11102994

2000

Entrez Id: 4221
Gene Symbol: MEN1
MEN1
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1
0.900 GeneticVariation UNIPROT We identified heterozygous germline mutations of the MEN1 gene in all of 16 Japanese MEN1 families examined, achieving the highest detectability of MEN1 mutations in familial MEN1 among studies that examined more than 10 families. 10576763

1999

Entrez Id: 4221
Gene Symbol: MEN1
MEN1
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1
0.900 GeneticVariation UNIPROT Germline mutations in the multiple endocrine neoplasia type 1 gene: evidence for frequent splicing defects. 10090472

1999

Entrez Id: 4221
Gene Symbol: MEN1
MEN1
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1
0.900 GeneticVariation UNIPROT The MEN1 tumor predisposition syndrome is caused by mutations in the MEN1 gene on human chromosome 11q13. 10534569

1999

Entrez Id: 4221
Gene Symbol: MEN1
MEN1
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1
0.900 GeneticVariation UNIPROT Mutation analysis of the MEN1 gene in Belgian patients with multiple endocrine neoplasia type 1 and related diseases. 9888389

1999

Entrez Id: 4221
Gene Symbol: MEN1
MEN1
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1
0.900 GeneticVariation UNIPROT A new mutation of the MEN1 gene in an italian kindred with multiple endocrine neoplasia type 1. 10229909

1999

Entrez Id: 4221
Gene Symbol: MEN1
MEN1
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1
0.900 GeneticVariation UNIPROT Menin interacts with the AP1 transcription factor JunD and represses JunD-activated transcription. 9989505

1999