Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Deficiencies, alpha 1-Antitrypsin SERPINA1 disease C0221757 AlteredExpression 0.7 orphanet , disgenet
Deficiencies, alpha 1-Antitrypsin SERPINA1 disease C0221757 CausalMutation 0.7 orphanet , disgenet
Deficiencies, alpha 1-Antitrypsin SERPINA1 disease C0221757 GeneticVariation 0.7 orphanet , disgenet
Deficiencies, alpha 1-Antitrypsin SERPINA1 disease C0221757 Biomarker 0.7 orphanet , disgenet
Deficiencies, alpha 1-Antitrypsin COPD disease C0221757 GeneticVariation 0.1 disgenet
Deficiencies, alpha 1-Antitrypsin ELANE disease C0221757 AlteredExpression 0.1 disgenet
Deficiencies, alpha 1-Antitrypsin COPD disease C0221757 Biomarker 0.1 disgenet
Deficiencies, alpha 1-Antitrypsin ELANE disease C0221757 Biomarker 0.1 disgenet
Deficiencies, alpha 1-Antitrypsin ELANE disease C0221757 GeneticVariation 0.1 disgenet
Deficiencies, alpha 1-Antitrypsin SERPINA13P disease C0221757 Biomarker 0.03 disgenet
Deficiencies, alpha 1-Antitrypsin SERPINA3 disease C0221757 Biomarker 0.03 disgenet
Deficiencies, alpha 1-Antitrypsin CRP disease C0221757 Biomarker 0.03 disgenet
Deficiencies, alpha 1-Antitrypsin HFE disease C0221757 Biomarker 0.03 disgenet
Deficiencies, alpha 1-Antitrypsin CRP disease C0221757 PosttranslationalModification 0.03 disgenet
Deficiencies, alpha 1-Antitrypsin HFE disease C0221757 GeneticVariation 0.03 disgenet
Deficiencies, alpha 1-Antitrypsin ELN disease C0221757 Biomarker 0.03 disgenet
Deficiencies, alpha 1-Antitrypsin SERPINA3 disease C0221757 GeneticVariation 0.03 disgenet
Deficiencies, alpha 1-Antitrypsin SERPINA13P disease C0221757 GeneticVariation 0.03 disgenet
Deficiencies, alpha 1-Antitrypsin TNF disease C0221757 Biomarker 0.02 disgenet
Deficiencies, alpha 1-Antitrypsin SERPING1 disease C0221757 Biomarker 0.02 disgenet
Deficiencies, alpha 1-Antitrypsin ADRA1D disease C0221757 Biomarker 0.02 disgenet
Deficiencies, alpha 1-Antitrypsin TNF disease C0221757 GeneticVariation 0.02 disgenet
Deficiencies, alpha 1-Antitrypsin SERPING1 disease C0221757 GeneticVariation 0.02 disgenet
Deficiencies, alpha 1-Antitrypsin CAT disease C0221757 Biomarker 0.02 disgenet
Deficiencies, alpha 1-Antitrypsin A2M disease C0221757 Biomarker 0.02 disgenet
Deficiencies, alpha 1-Antitrypsin ADRA1D disease C0221757 AlteredExpression 0.02 disgenet
Deficiencies, alpha 1-Antitrypsin CAT disease C0221757 AlteredExpression 0.02 disgenet
Deficiencies, alpha 1-Antitrypsin MAN1B1 disease C0221757 GeneticVariation 0.01 disgenet
Deficiencies, alpha 1-Antitrypsin TWIST1 disease C0221757 GeneticVariation 0.01 disgenet
Deficiencies, alpha 1-Antitrypsin ACAD8 disease C0221757 Biomarker 0.01 disgenet
Deficiencies, alpha 1-Antitrypsin DBP disease C0221757 GeneticVariation 0.01 disgenet
Deficiencies, alpha 1-Antitrypsin OTOA disease C0221757 GeneticVariation 0.01 disgenet
Deficiencies, alpha 1-Antitrypsin MYO15A disease C0221757 GeneticVariation 0.01 disgenet
Deficiencies, alpha 1-Antitrypsin NPC1 disease C0221757 GeneticVariation 0.01 disgenet
Deficiencies, alpha 1-Antitrypsin VWF disease C0221757 GeneticVariation 0.01 disgenet
Deficiencies, alpha 1-Antitrypsin HAMP disease C0221757 AlteredExpression 0.01 disgenet
Deficiencies, alpha 1-Antitrypsin HERPUD1 disease C0221757 GeneticVariation 0.01 disgenet
Deficiencies, alpha 1-Antitrypsin MPO disease C0221757 AlteredExpression 0.01 disgenet
Deficiencies, alpha 1-Antitrypsin AAVS1 disease C0221757 GeneticVariation 0.01 disgenet
Deficiencies, alpha 1-Antitrypsin IL27 disease C0221757 AlteredExpression 0.01 disgenet
Deficiencies, alpha 1-Antitrypsin IL10 disease C0221757 Biomarker 0.01 disgenet
Deficiencies, alpha 1-Antitrypsin ATP7B disease C0221757 GeneticVariation 0.01 disgenet
Deficiencies, alpha 1-Antitrypsin MYDGF disease C0221757 AlteredExpression 0.01 disgenet
Deficiencies, alpha 1-Antitrypsin SERPINA5 disease C0221757 GeneticVariation 0.01 disgenet
Deficiencies, alpha 1-Antitrypsin PROP1 disease C0221757 GeneticVariation 0.01 disgenet
Deficiencies, alpha 1-Antitrypsin UBB disease C0221757 Biomarker 0.01 disgenet
Deficiencies, alpha 1-Antitrypsin SFXN1 disease C0221757 GeneticVariation 0.01 disgenet
Deficiencies, alpha 1-Antitrypsin CHRNA3 disease C0221757 Biomarker 0.01 disgenet
Deficiencies, alpha 1-Antitrypsin UGGT1 disease C0221757 GeneticVariation 0.01 disgenet
Deficiencies, alpha 1-Antitrypsin ACADVL disease C0221757 GeneticVariation 0.01 disgenet
Deficiencies, alpha 1-Antitrypsin BPI disease C0221757 Biomarker 0.01 disgenet
Deficiencies, alpha 1-Antitrypsin ATF6 disease C0221757 AlteredExpression 0.01 disgenet
Deficiencies, alpha 1-Antitrypsin TGFB1 disease C0221757 GeneticVariation 0.01 disgenet
Deficiencies, alpha 1-Antitrypsin IL17D disease C0221757 AlteredExpression 0.01 disgenet
Deficiencies, alpha 1-Antitrypsin AMELX disease C0221757 Biomarker 0.01 disgenet
Deficiencies, alpha 1-Antitrypsin CFTR disease C0221757 GeneticVariation 0.01 disgenet
Deficiencies, alpha 1-Antitrypsin MSC disease C0221757 Biomarker 0.01 disgenet
Deficiencies, alpha 1-Antitrypsin TFEB disease C0221757 Biomarker 0.01 disgenet
Deficiencies, alpha 1-Antitrypsin MVK disease C0221757 Biomarker 0.01 disgenet
Deficiencies, alpha 1-Antitrypsin GC disease C0221757 GeneticVariation 0.01 disgenet
Deficiencies, alpha 1-Antitrypsin IDO1 disease C0221757 Biomarker 0.01 disgenet
Deficiencies, alpha 1-Antitrypsin FEV disease C0221757 Biomarker 0.01 disgenet
Deficiencies, alpha 1-Antitrypsin TERT disease C0221757 AlteredExpression 0.01 disgenet
Deficiencies, alpha 1-Antitrypsin CELA1 disease C0221757 AlteredExpression 0.01 disgenet
Deficiencies, alpha 1-Antitrypsin MMP12 disease C0221757 Biomarker 0.01 disgenet
Deficiencies, alpha 1-Antitrypsin SVIP disease C0221757 Biomarker 0.01 disgenet
Deficiencies, alpha 1-Antitrypsin SELENOS disease C0221757 AlteredExpression 0.01 disgenet
Deficiencies, alpha 1-Antitrypsin HADHA disease C0221757 GeneticVariation 0.01 disgenet
Deficiencies, alpha 1-Antitrypsin KLF10 disease C0221757 AlteredExpression 0.01 disgenet
Deficiencies, alpha 1-Antitrypsin PRTN3 disease C0221757 Biomarker 0.01 disgenet
Deficiencies, alpha 1-Antitrypsin AMFR disease C0221757 AlteredExpression 0.01 disgenet
Deficiencies, alpha 1-Antitrypsin KLF9 disease C0221757 AlteredExpression 0.01 disgenet
Deficiencies, alpha 1-Antitrypsin PIM1 disease C0221757 Biomarker 0.01 disgenet
Deficiencies, alpha 1-Antitrypsin GSTP1 disease C0221757 GeneticVariation 0.01 disgenet
Deficiencies, alpha 1-Antitrypsin GCNA disease C0221757 Biomarker 0.01 disgenet
Deficiencies, alpha 1-Antitrypsin SCO2 disease C0221757 GeneticVariation 0.01 disgenet
Deficiencies, alpha 1-Antitrypsin SMS disease C0221757 Biomarker 0.01 disgenet
Deficiencies, alpha 1-Antitrypsin EYS disease C0221757 GeneticVariation 0.01 disgenet
Deficiencies, alpha 1-Antitrypsin ACE disease C0221757 AlteredExpression 0.01 disgenet
Deficiencies, alpha 1-Antitrypsin TMBIM4 disease C0221757 GeneticVariation 0.01 disgenet
Deficiencies, alpha 1-Antitrypsin TGM5 disease C0221757 GeneticVariation 0.01 disgenet
Deficiencies, alpha 1-Antitrypsin PLF disease C0221757 Biomarker 0.01 disgenet
Deficiencies, alpha 1-Antitrypsin TLX1NB disease C0221757 Biomarker 0.01 disgenet
Deficiencies, alpha 1-Antitrypsin IREB2 disease C0221757 Biomarker 0.01 disgenet
Deficiencies, alpha 1-Antitrypsin DNAJB11 disease C0221757 Biomarker 0.01 disgenet
Deficiencies, alpha 1-Antitrypsin CYP21A2 disease C0221757 GeneticVariation 0.01 disgenet
Deficiencies, alpha 1-Antitrypsin ATD disease C0221757 GeneticVariation 0.01 disgenet
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