rs1555165811, MEN1

N. diseases: 1
Disease: Multiple Endocrine Neoplasia Type 1 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Multiple Endocrine Neoplasia Type 1
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
0.700 GeneticVariation UNIPROT Clinical testing for multiple endocrine neoplasia type 1 in a DNA diagnostic laboratory. 15714081 2005
Multiple Endocrine Neoplasia Type 1
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
0.700 GeneticVariation UNIPROT Novel mutations in the MEN1 gene in subjects with multiple endocrine neoplasia-1. 15730416 2005
Multiple Endocrine Neoplasia Type 1
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
0.700 GeneticVariation UNIPROT Menin associates with a trithorax family histone methyltransferase complex and with the hoxc8 locus. 14992727 2004
Multiple Endocrine Neoplasia Type 1
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
0.700 GeneticVariation UNIPROT Multiple endocrine neoplasia type 1 (MEN1) germline mutations in familial isolated primary hyperparathyroidism. 12699448 2003
Multiple Endocrine Neoplasia Type 1
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
0.700 GeneticVariation UNIPROT A novel missense mutation of the MEN1 gene in a multiple endocrine neoplasia type 1 patient associated with carcinoid syndrome. 14686752 2003
Multiple Endocrine Neoplasia Type 1
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
0.700 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
Multiple Endocrine Neoplasia Type 1
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
0.700 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
Multiple Endocrine Neoplasia Type 1
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
0.700 GeneticVariation UNIPROT A novel mutation E179K of the MEN1 gene predisposes for multiple endocrine neoplasia-type 1 (MEN1). 11102994 2000
Multiple Endocrine Neoplasia Type 1
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
0.700 GeneticVariation UNIPROT Pituitary macroadenoma in a 5-year-old: an early expression of multiple endocrine neoplasia type 1. 11134142 2000
Multiple Endocrine Neoplasia Type 1
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
0.700 GeneticVariation UNIPROT Identification of MEN1 gene mutations in families with MEN 1 and related disorders. 10993647 2000
Multiple Endocrine Neoplasia Type 1
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
0.700 GeneticVariation UNIPROT Germline MEN1 mutations in sixteen Japanese families with multiple endocrine neoplasia type 1 (MEN1). 10576763 1999
Multiple Endocrine Neoplasia Type 1
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
0.700 GeneticVariation UNIPROT Mutation analysis of the MEN1 gene in Belgian patients with multiple endocrine neoplasia type 1 and related diseases. 9888389 1999
Multiple Endocrine Neoplasia Type 1
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
0.700 GeneticVariation UNIPROT Molecular pathology of multiple endocrine neoplasia type I: two novel germline mutations and updated classification of mutations affecting MEN1 gene. 10617276 1999
Multiple Endocrine Neoplasia Type 1
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
0.700 GeneticVariation UNIPROT A new mutation of the MEN1 gene in an italian kindred with multiple endocrine neoplasia type 1. 10229909 1999
Multiple Endocrine Neoplasia Type 1
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
0.700 GeneticVariation UNIPROT Menin interacts with the AP1 transcription factor JunD and represses JunD-activated transcription. 9989505 1999
Multiple Endocrine Neoplasia Type 1
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
0.700 GeneticVariation UNIPROT Somatic mutations of the MEN1 tumor suppressor gene detected in sporadic angiofibromas. 9740255 1998
Multiple Endocrine Neoplasia Type 1
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
0.700 GeneticVariation UNIPROT Mutation analysis of the MEN1 gene in multiple endocrine neoplasia type 1, familial acromegaly and familial isolated hyperparathyroidism. 9709921 1998
Multiple Endocrine Neoplasia Type 1
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
0.700 GeneticVariation UNIPROT MEN1 gene mutations in 12 MEN1 families and their associated tumors. 9820618 1998
Multiple Endocrine Neoplasia Type 1
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
0.700 GeneticVariation UNIPROT Germ-line mutation analysis in patients with multiple endocrine neoplasia type 1 and related disorders. 9683585 1998
Multiple Endocrine Neoplasia Type 1
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
0.700 GeneticVariation UNIPROT Germline mutations of the MEN1 gene in familial multiple endocrine neoplasia type 1 and related states. 9215689 1997