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 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
Multiple Endocrine Neoplasia Type 1
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
0.700 CausalMutation CLINVAR Tumor suppressor menin: the essential role of nuclear localization signal domains in coordinating gene expression. 16449969 2006
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Natural course of small, asymptomatic neuroendocrine pancreatic tumours in multiple endocrine neoplasia type 1: an endoscopic ultrasound imaging study. 17158764 2006
Multiple Endocrine Neoplasia Type 1
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
0.700 CausalMutation CLINVAR Natural course of small, asymptomatic neuroendocrine pancreatic tumours in multiple endocrine neoplasia type 1: an endoscopic ultrasound imaging study. 17158764 2006
Multiple Endocrine Neoplasia Type 1
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
0.700 CausalMutation CLINVAR Direct binding of DNA by tumor suppressor menin. 15331604 2004
Multiple Endocrine Neoplasia Type 1
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
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
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
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
Multiple Endocrine Neoplasia Type 1
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
0.700 CausalMutation CLINVAR Germline mutations in the multiple endocrine neoplasia type 1 gene: evidence for frequent splicing defects. 10090472 1999