Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894264
rs104894264
0.800 GeneticVariation UNIPROT Germline mutations of the MEN1 gene in familial multiple endocrine neoplasia type 1 and related states. 9215689

1997

dbSNP: rs104894264
rs104894264
0.800 GeneticVariation UNIPROT Mutation analysis of the MEN1 gene in multiple endocrine neoplasia type 1, familial acromegaly and familial isolated hyperparathyroidism. 9709921

1998

dbSNP: rs104894264
rs104894264
0.800 GeneticVariation UNIPROT Somatic mutations of the MEN1 tumor suppressor gene detected in sporadic angiofibromas. 9740255

1998

dbSNP: rs104894264
rs104894264
0.800 GeneticVariation UNIPROT MEN1 gene mutations in 12 MEN1 families and their associated tumors. 9820618

1998

dbSNP: rs104894264
rs104894264
T 0.800 CausalMutation CLINVAR Characterization of mutations in patients with multiple endocrine neoplasia type 1. 9463336

1998

dbSNP: rs104894264
rs104894264
0.800 GeneticVariation UNIPROT Germ-line mutation analysis in patients with multiple endocrine neoplasia type 1 and related disorders. 9683585

1998

dbSNP: rs104894264
rs104894264
0.800 GeneticVariation UNIPROT Molecular pathology of multiple endocrine neoplasia type I: two novel germline mutations and updated classification of mutations affecting MEN1 gene. 10617276

1999

dbSNP: rs104894264
rs104894264
0.800 GeneticVariation UNIPROT Germline MEN1 mutations in sixteen Japanese families with multiple endocrine neoplasia type 1 (MEN1). 10576763

1999

dbSNP: rs104894264
rs104894264
0.800 GeneticVariation UNIPROT Mutation analysis of the MEN1 gene in Belgian patients with multiple endocrine neoplasia type 1 and related diseases. 9888389

1999

dbSNP: rs104894264
rs104894264
0.800 GeneticVariation UNIPROT Menin interacts with the AP1 transcription factor JunD and represses JunD-activated transcription. 9989505

1999

dbSNP: rs104894264
rs104894264
0.800 GeneticVariation UNIPROT A new mutation of the MEN1 gene in an italian kindred with multiple endocrine neoplasia type 1. 10229909

1999

dbSNP: rs104894264
rs104894264
T 0.800 CausalMutation CLINVAR Clinical features of multiple endocrine neoplasia type 1 (MEN1) phenocopy without germline MEN1 gene mutations: analysis of 20 Japanese sporadic cases with MEN1. 10762295

2000

dbSNP: rs104894264
rs104894264
0.800 GeneticVariation UNIPROT Identification of MEN1 gene mutations in families with MEN 1 and related disorders. 10993647

2000

dbSNP: rs104894264
rs104894264
0.800 GeneticVariation UNIPROT A novel mutation E179K of the MEN1 gene predisposes for multiple endocrine neoplasia-type 1 (MEN1). 11102994

2000

dbSNP: rs104894264
rs104894264
0.800 GeneticVariation UNIPROT Pituitary macroadenoma in a 5-year-old: an early expression of multiple endocrine neoplasia type 1. 11134142

2000

dbSNP: rs104894264
rs104894264
T 0.800 CausalMutation CLINVAR Founder effect in multiple endocrine neoplasia type 1 (MEN 1) in Finland. 11303512

2001

dbSNP: rs104894264
rs104894264
0.800 GeneticVariation UNIPROT Guidelines for diagnosis and therapy of MEN type 1 and type 2. 11739416

2001

dbSNP: rs104894264
rs104894264
T 0.800 CausalMutation CLINVAR Pituitary disease in MEN type 1 (MEN1): data from the France-Belgium MEN1 multicenter study. 11836268

2002

dbSNP: rs104894264
rs104894264
T 0.800 CausalMutation CLINVAR Frequent occurrence of an intron 4 mutation in multiple endocrine neoplasia type 1. 12050235

2002

dbSNP: rs104894264
rs104894264
0.800 GeneticVariation UNIPROT Germline mutation profile of MEN1 in multiple endocrine neoplasia type 1: search for correlation between phenotype and the functional domains of the MEN1 protein. 12112656

2002

dbSNP: rs104894264
rs104894264
0.800 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

dbSNP: rs104894264
rs104894264
T 0.800 CausalMutation CLINVAR Germline mutation profile of MEN1 in multiple endocrine neoplasia type 1: search for correlation between phenotype and the functional domains of the MEN1 protein. 12112656

2002

dbSNP: rs104894264
rs104894264
0.800 GeneticVariation UNIPROT A novel missense mutation of the MEN1 gene in a multiple endocrine neoplasia type 1 patient associated with carcinoid syndrome. 14686752

2003

dbSNP: rs104894264
rs104894264
0.800 GeneticVariation UNIPROT Multiple endocrine neoplasia type 1 (MEN1) germline mutations in familial isolated primary hyperparathyroidism. 12699448

2003

dbSNP: rs104894264
rs104894264
T 0.800 CausalMutation CLINVAR Efficient mutation detection in MEN1 gene using a combination of single-strand conformation polymorphism (MDGA) and heteroduplex analysis. 12652570

2003