Disease Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Gastrointestinal Stromal Tumors
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
0.730 GeneticVariation BEFREE A case of multiple gastrointestinal stromal tumors caused by a germline KIT gene mutation (p.Leu576Pro). 27771813 2017
Gastrointestinal Stromal Tumors
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
0.730 GeneticVariation BEFREE A novel germline KIT mutation (p.L576P) in a family presenting with juvenile onset of multiple gastrointestinal stromal tumors, skin hyperpigmentations, and esophageal stenosis. 23598963 2013
Gastrointestinal Stromal Tumors
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
0.730 GeneticVariation BEFREE Activate and resist: L576P-KIT in GIST. 19723893 2010
Gastrointestinal Stromal Tumors
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
0.730 GeneticVariation CLINVAR An update on molecular genetics of gastrointestinal stromal tumours. 16731599 2006