Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Achalasia Addisonianism Alacrimia syndrome AAAS disease C0271742 CausalMutation 0.8 orphanet , disgenet
Achalasia Addisonianism Alacrimia syndrome AAAS disease C0271742 GeneticVariation 0.8 orphanet , disgenet
Achalasia Addisonianism Alacrimia syndrome AAAS disease C0271742 GermlineCausalMutation 0.8 orphanet , disgenet
Achalasia Addisonianism Alacrimia syndrome AAAS disease C0271742 Biomarker 0.8 orphanet , disgenet
Achalasia Addisonianism Alacrimia syndrome GMPPA disease C0271742 GermlineCausalMutation 0.3 orphanet , disgenet
Achalasia Addisonianism Alacrimia syndrome TRAPPC11 disease C0271742 GermlineCausalMutation 0.3 orphanet , disgenet
Achalasia Addisonianism Alacrimia syndrome POMC disease C0271742 GeneticVariation 0.1 disgenet
Achalasia Addisonianism Alacrimia syndrome POMC disease C0271742 Biomarker 0.1 disgenet
Achalasia Addisonianism Alacrimia syndrome POMC disease C0271742 AlteredExpression 0.1 disgenet
Achalasia Addisonianism Alacrimia syndrome MC2R disease C0271742 Biomarker 0.09 disgenet
Achalasia Addisonianism Alacrimia syndrome MC2R disease C0271742 GeneticVariation 0.09 disgenet
Achalasia Addisonianism Alacrimia syndrome MRAP disease C0271742 GeneticVariation 0.02 disgenet
Achalasia Addisonianism Alacrimia syndrome MRAP disease C0271742 Biomarker 0.02 disgenet
Achalasia Addisonianism Alacrimia syndrome IGFALS disease C0271742 Biomarker 0.01 disgenet
Achalasia Addisonianism Alacrimia syndrome SOD1 disease C0271742 Biomarker 0.01 disgenet
Achalasia Addisonianism Alacrimia syndrome TSHR disease C0271742 GeneticVariation 0.01 disgenet
Achalasia Addisonianism Alacrimia syndrome PACC1 disease C0271742 Biomarker 0.01 disgenet
Achalasia Addisonianism Alacrimia syndrome RGPD2 disease C0271742 Biomarker 0.01 disgenet
Achalasia Addisonianism Alacrimia syndrome SGPL1 disease C0271742 GeneticVariation 0.01 disgenet
Achalasia Addisonianism Alacrimia syndrome FTH1 disease C0271742 Biomarker 0.01 disgenet
Achalasia Addisonianism Alacrimia syndrome GH1 disease C0271742 GeneticVariation 0.01 disgenet
Achalasia Addisonianism Alacrimia syndrome AGFG2 disease C0271742 Biomarker 0.01 disgenet
Achalasia Addisonianism Alacrimia syndrome NR5A1 disease C0271742 GeneticVariation 0.01 disgenet
Achalasia Addisonianism Alacrimia syndrome SMARCD1 disease C0271742 Biomarker 0.01 disgenet
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