Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894261
rs104894261
MEN1 ; MAP4K2
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1 		A 0.700 CausalMutation CLINVAR Ectopic Cushing syndrome associated with thymic carcinoid tumor as the first presentation of MEN1 syndrome-report of a family with MEN1 gene mutation. 24218143

2014
dbSNP: rs104894261
rs104894261
MEN1 ; MAP4K2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Primary hyperparathyroidism in MEN1 patients: a cohort study with longterm follow-up on preferred surgical procedure and the relation with genotype. 22470073

2012
dbSNP: rs104894261
rs104894261
MEN1 ; MAP4K2
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1 		A 0.700 CausalMutation CLINVAR Developing effective screening strategies in multiple endocrine neoplasia type 1 (MEN 1) on the basis of clinical and sequencing data of German patients with MEN 1. 17853334

2007
dbSNP: rs104894261
rs104894261
MEN1 ; MAP4K2
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1 		A 0.700 CausalMutation CLINVAR Tumor suppressor menin: the essential role of nuclear localization signal domains in coordinating gene expression. 16449969

2006
dbSNP: rs104894261
rs104894261
MEN1 ; MAP4K2
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1 		A 0.700 CausalMutation CLINVAR Direct binding of DNA by tumor suppressor menin. 15331604

2004
dbSNP: rs104894261
rs104894261
MEN1 ; MAP4K2
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1 		A 0.700 CausalMutation CLINVAR Prospective controlled trial of a standardized meal stimulation test in the detection of pancreaticoduodenal endocrine tumours in patients with multiple endocrine neoplasia type 1. 11578300

2001
dbSNP: rs104894261
rs104894261
MEN1 ; MAP4K2
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1 		A 0.700 CausalMutation CLINVAR Positional cloning of the gene for multiple endocrine neoplasia-type 1. 9103196

1997
dbSNP: rs104894261
rs104894261
MEN1 ; MAP4K2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Positional cloning of the gene for multiple endocrine neoplasia-type 1. 9103196

1997