Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Esophageal Achalasia HLA-DQA1 disease C0014848 Biomarker 0.52 orphanet , disgenet
Esophageal Achalasia HLA-DQB1 disease C0014848 Biomarker 0.52 orphanet , disgenet
Esophageal Achalasia NOS1 disease C0014848 Biomarker 0.52 orphanet , disgenet
Esophageal Achalasia NOS1 disease C0014848 GeneticVariation 0.52 orphanet , disgenet
Esophageal Achalasia HLA-DQA1 disease C0014848 GeneticVariation 0.52 orphanet , disgenet
Esophageal Achalasia HLA-DQB1 disease C0014848 GeneticVariation 0.52 orphanet , disgenet
Esophageal Achalasia HLA-DQB1 disease C0014848 SusceptibilityMutation 0.52 orphanet , disgenet
Esophageal Achalasia NOS1 disease C0014848 GermlineCausalMutation 0.52 orphanet , disgenet
Esophageal Achalasia HLA-DQA1 disease C0014848 SusceptibilityMutation 0.52 orphanet , disgenet
Esophageal Achalasia CRLF1 disease C0014848 GermlineCausalMutation 0.31 orphanet , disgenet
Esophageal Achalasia CRLF1 disease C0014848 Biomarker 0.31 orphanet , disgenet
Esophageal Achalasia SPRY2 disease C0014848 Biomarker 0.2 disgenet
Esophageal Achalasia LMNA disease C0014848 Biomarker 0.2 disgenet
Esophageal Achalasia AAAS disease C0014848 Biomarker 0.13 disgenet
Esophageal Achalasia AAAS disease C0014848 GeneticVariation 0.13 disgenet
Esophageal Achalasia GUCY1A1 disease C0014848 GeneticVariation 0.12 orphanet , disgenet
Esophageal Achalasia GUCY1A1 disease C0014848 Biomarker 0.12 orphanet , disgenet
Esophageal Achalasia IARS2 disease C0014848 Biomarker 0.11 disgenet
Esophageal Achalasia TRAPPC11 disease C0014848 Biomarker 0.1 disgenet
Esophageal Achalasia GMPPA disease C0014848 Biomarker 0.1 disgenet
Esophageal Achalasia GLA disease C0014848 Biomarker 0.1 disgenet
Esophageal Achalasia FLVCR1 disease C0014848 Biomarker 0.1 disgenet
Esophageal Achalasia ACTB disease C0014848 Biomarker 0.1 disgenet
Esophageal Achalasia NPNT disease C0014848 Biomarker 0.05 disgenet
Esophageal Achalasia FUT3 disease C0014848 Biomarker 0.04 disgenet
Esophageal Achalasia POMC disease C0014848 Biomarker 0.03 disgenet
Esophageal Achalasia POMC disease C0014848 GeneticVariation 0.03 disgenet
Esophageal Achalasia KIT disease C0014848 GeneticVariation 0.02 disgenet
Esophageal Achalasia RBM45 disease C0014848 GeneticVariation 0.02 disgenet
Esophageal Achalasia RBM45 disease C0014848 Biomarker 0.02 disgenet
Esophageal Achalasia HLA-DRB1 disease C0014848 Biomarker 0.02 disgenet
Esophageal Achalasia TP53 disease C0014848 GeneticVariation 0.02 disgenet
Esophageal Achalasia RET disease C0014848 GeneticVariation 0.02 disgenet
Esophageal Achalasia TNF disease C0014848 GeneticVariation 0.02 disgenet
Esophageal Achalasia PTPN22 disease C0014848 GeneticVariation 0.02 disgenet
Esophageal Achalasia TNF disease C0014848 AlteredExpression 0.02 disgenet
Esophageal Achalasia WNT2 disease C0014848 GeneticVariation 0.02 disgenet
Esophageal Achalasia HLA-DRB1 disease C0014848 GeneticVariation 0.02 disgenet
Esophageal Achalasia LTA disease C0014848 GeneticVariation 0.01 disgenet
Esophageal Achalasia PNMA2 disease C0014848 Biomarker 0.01 disgenet
Esophageal Achalasia MMP9 disease C0014848 Biomarker 0.01 disgenet
Esophageal Achalasia DBI disease C0014848 Biomarker 0.01 disgenet
Esophageal Achalasia VIPR1 disease C0014848 AlteredExpression 0.01 disgenet
Esophageal Achalasia CALR disease C0014848 Biomarker 0.01 disgenet
Esophageal Achalasia CCK disease C0014848 Biomarker 0.01 disgenet
Esophageal Achalasia IL13 disease C0014848 Biomarker 0.01 disgenet
Esophageal Achalasia MMP2 disease C0014848 Biomarker 0.01 disgenet
Esophageal Achalasia RNASE2 disease C0014848 Biomarker 0.01 disgenet
Esophageal Achalasia POLG disease C0014848 GeneticVariation 0.01 disgenet
Esophageal Achalasia S100A1 disease C0014848 Biomarker 0.01 disgenet
Esophageal Achalasia IL23A disease C0014848 Biomarker 0.01 disgenet
Esophageal Achalasia IL10 disease C0014848 GeneticVariation 0.01 disgenet
Esophageal Achalasia ECI1 disease C0014848 Biomarker 0.01 disgenet
Esophageal Achalasia AGA disease C0014848 GeneticVariation 0.01 disgenet
Esophageal Achalasia MIR130A disease C0014848 AlteredExpression 0.01 disgenet
Esophageal Achalasia ISLR2 disease C0014848 GeneticVariation 0.01 disgenet
Esophageal Achalasia S100B disease C0014848 Biomarker 0.01 disgenet
Esophageal Achalasia TWNK disease C0014848 GeneticVariation 0.01 disgenet
Esophageal Achalasia SERPINE1 disease C0014848 Biomarker 0.01 disgenet
Esophageal Achalasia NOS3 disease C0014848 GeneticVariation 0.01 disgenet
Esophageal Achalasia IL22 disease C0014848 Biomarker 0.01 disgenet
Esophageal Achalasia SERPINB2 disease C0014848 Biomarker 0.01 disgenet
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