DisGeNET - a database of gene-disease associations

Multiple Endocrine Neoplasia Type 1, C0025267

Variant: rs398124435 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs398124435

MEN1 ; MAP4K2

0.800

GeneticVariation

CLINVAR

Menin missense mutants encoded by the MEN1 gene that are targeted to the proteasome: restoration of expression and activity by CHIP siRNA.

22090276

2012

dbSNP:

rs398124435

MEN1 ; MAP4K2

0.800

GeneticVariation

CLINVAR

Correlation of mutant menin stability with clinical expression of multiple endocrine neoplasia type 1 and its incomplete forms.

21819486

2011

dbSNP:

rs398124435

MEN1 ; MAP4K2

0.800

GeneticVariation

CLINVAR

The tumor suppressor protein menin inhibits AKT activation by regulating its cellular localization.

21127195

2011

dbSNP:

rs398124435

MEN1 ; MAP4K2

0.800

GeneticVariation

UNIPROT

Clinical testing for multiple endocrine neoplasia type 1 in a DNA diagnostic laboratory.

15714081

2005

dbSNP:

rs398124435

MEN1 ; MAP4K2

0.800

GeneticVariation

UNIPROT

Novel mutations in the MEN1 gene in subjects with multiple endocrine neoplasia-1.

15730416

2005

dbSNP:

rs398124435

MEN1 ; MAP4K2

0.800

GeneticVariation

CLINVAR

Clinical testing for multiple endocrine neoplasia type 1 in a DNA diagnostic laboratory.

15714081

2005

dbSNP:

rs398124435

MEN1 ; MAP4K2

0.800

GeneticVariation

UNIPROT

Menin associates with a trithorax family histone methyltransferase complex and with the hoxc8 locus.

14992727

2004

dbSNP:

rs398124435

MEN1 ; MAP4K2

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:

rs398124435

MEN1 ; MAP4K2

0.800

GeneticVariation

UNIPROT

Multiple endocrine neoplasia type 1 (MEN1) germline mutations in familial isolated primary hyperparathyroidism.

12699448

2003

dbSNP:

rs398124435

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:

rs398124435

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:

rs398124435

MEN1 ; MAP4K2

0.800

GeneticVariation

UNIPROT

Identification of MEN1 gene mutations in families with MEN 1 and related disorders.

10993647

2000

dbSNP:

rs398124435

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:

rs398124435

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:

rs398124435

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:

rs398124435

MEN1 ; MAP4K2

0.800

GeneticVariation

UNIPROT

Germline MEN1 mutations in sixteen Japanese families with multiple endocrine neoplasia type 1 (MEN1).

10576763

1999

dbSNP:

rs398124435

MEN1 ; MAP4K2

0.800

GeneticVariation

UNIPROT

Menin interacts with the AP1 transcription factor JunD and represses JunD-activated transcription.

9989505

1999

dbSNP:

rs398124435

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:

rs398124435

MEN1 ; MAP4K2

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:

rs398124435

MEN1 ; MAP4K2

0.800

GeneticVariation

UNIPROT

Somatic mutations of the MEN1 tumor suppressor gene detected in sporadic angiofibromas.

9740255

1998

dbSNP:

rs398124435

MEN1 ; MAP4K2

0.800

GeneticVariation

UNIPROT

Germ-line mutation analysis in patients with multiple endocrine neoplasia type 1 and related disorders.

9683585

1998

dbSNP:

rs398124435

MEN1 ; MAP4K2

0.800

GeneticVariation

UNIPROT

MEN1 gene mutations in 12 MEN1 families and their associated tumors.

9820618

1998

dbSNP:

rs398124435

MEN1 ; MAP4K2

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:

rs398124435

MEN1 ; MAP4K2

0.800

GeneticVariation

CLINVAR

Positional cloning of the gene for multiple endocrine neoplasia-type 1.

9103196

1997

dbSNP:

rs398124435

MEN1 ; MAP4K2

0.800

GeneticVariation

UNIPROT

Germline mutations of the MEN1 gene in familial multiple endocrine neoplasia type 1 and related states.

9215689

1997