rs121913513, KIT

N. diseases: 9
Source: ALL
Disease Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Esophageal Stenosis
CUI: C0014866
Disease: Esophageal Stenosis
0.010 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