Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894264
rs104894264
MEN1 ; MAP4K2
0.800 GeneticVariation UNIPROT Novel mutations in the MEN1 gene in subjects with multiple endocrine neoplasia-1. 15730416

2005
dbSNP: rs104894264
rs104894264
MEN1 ; MAP4K2
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
MEN1 ; MAP4K2
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
MEN1 ; MAP4K2
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
MEN1 ; MAP4K2
0.800 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249

2013
dbSNP: rs104894264
rs104894264
MEN1 ; MAP4K2
0.800 GeneticVariation UNIPROT Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. 15604628

2004
dbSNP: rs104894264
rs104894264
MEN1 ; MAP4K2
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
MEN1 ; MAP4K2
0.800 GeneticVariation UNIPROT Guidelines for diagnosis and therapy of MEN type 1 and type 2. 11739416

2001
dbSNP: rs104894264
rs104894264
MEN1 ; MAP4K2
0.800 GeneticVariation UNIPROT Menin interacts with the AP1 transcription factor JunD and represses JunD-activated transcription. 9989505

1999
dbSNP: rs104894264
rs104894264
MEN1 ; MAP4K2
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
MEN1 ; MAP4K2
0.800 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965

2015
dbSNP: rs104894264
rs104894264
MEN1 ; MAP4K2
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
MEN1 ; MAP4K2
0.800 GeneticVariation UNIPROT Germ-line mutation analysis in patients with multiple endocrine neoplasia type 1 and related disorders. 9683585

1998