Disease: Achalasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1321756
Disease: Achalasia
Achalasia 		0.020 GeneticVariation disease BEFREE A familial germline mutation in KIT associated with achalasia, mastocytosis and gastrointestinal stromal tumors shows response to kinase inhibitors. 31109590 2019
CUI: C1321756
Disease: Achalasia
Achalasia 		0.020 GeneticVariation disease BEFREE A functional polymorphism (rs6554199) located in the c-kit gene was associated with achalasia in a Turkish cohort. 22917541 2012