Disease: Esophageal Achalasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0014848
Disease: Esophageal Achalasia
Esophageal Achalasia 		0.520 GeneticVariation disease BEFREE In addition, two amino acid substitutions in the extracellular domain of HLA-DQα1 at position 41 (lysine encoded by HLA-DQA1*01:03; P=5.60×10(-10)) and of HLA-DQβ1 at position 45 (glutamic acid encoded by HLA-DQB1*03:01 and HLA-DQB1*03:04; P=1.20×10(-9)) independently confer achalasia risk. 24997987 2014
CUI: C0014848
Disease: Esophageal Achalasia
Esophageal Achalasia 		0.520 SusceptibilityMutation disease ORPHANET In addition, two amino acid substitutions in the extracellular domain of HLA-DQα1 at position 41 (lysine encoded by HLA-DQA1*01:03; P=5.60×10(-10)) and of HLA-DQβ1 at position 45 (glutamic acid encoded by HLA-DQB1*03:01 and HLA-DQB1*03:04; P=1.20×10(-9)) independently confer achalasia risk. 24997987 2014
CUI: C0014848
Disease: Esophageal Achalasia
Esophageal Achalasia 		0.520 Biomarker disease CTD_human In addition, two amino acid substitutions in the extracellular domain of HLA-DQα1 at position 41 (lysine encoded by HLA-DQA1*01:03; P=5.60×10(-10)) and of HLA-DQβ1 at position 45 (glutamic acid encoded by HLA-DQB1*03:01 and HLA-DQB1*03:04; P=1.20×10(-9)) independently confer achalasia risk. 24997987 2014
CUI: C0014848
Disease: Esophageal Achalasia
Esophageal Achalasia 		0.520 GeneticVariation disease BEFREE All of the women and 66.7% of the men with achalasia and the DQB1*0603 allele or the DQA1*0103-DQB1*0603 heterodimer were positive for antibodies. 11837716 2002