Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Acidoses NFE2L2 phenotype C0001122 Biomarker 0.3 disgenet
Acidoses SLC9A4 phenotype C0001122 Biomarker 0.3 disgenet
Acidoses SLC6A14 phenotype C0001122 Biomarker 0.2 disgenet
Acidoses CYP27B1 phenotype C0001122 Biomarker 0.2 disgenet
Acidoses SLC34A1 phenotype C0001122 Biomarker 0.2 disgenet
Acidoses ADM phenotype C0001122 Biomarker 0.2 disgenet
Acidoses SLC26A4 phenotype C0001122 Biomarker 0.2 disgenet
Acidoses CPS1 phenotype C0001122 Biomarker 0.2 disgenet
Acidoses CLDN14 phenotype C0001122 Biomarker 0.2 disgenet
Acidoses AMT phenotype C0001122 Biomarker 0.2 disgenet
Acidoses OTC phenotype C0001122 Biomarker 0.2 disgenet
Acidoses ETFA phenotype C0001122 Biomarker 0.1 disgenet
Acidoses EPG5 phenotype C0001122 Biomarker 0.1 disgenet
Acidoses ETFDH phenotype C0001122 Biomarker 0.1 disgenet
Acidoses MARS1 phenotype C0001122 Biomarker 0.1 disgenet
Acidoses SLC2A2 phenotype C0001122 Biomarker 0.1 disgenet
Acidoses ETFB phenotype C0001122 Biomarker 0.1 disgenet
Acidoses CYP11A1 phenotype C0001122 Biomarker 0.1 disgenet
Acidoses WDR35 phenotype C0001122 Biomarker 0.1 disgenet
Acidoses HSD3B2 phenotype C0001122 Biomarker 0.1 disgenet
Acidoses CA9 phenotype C0001122 AlteredExpression 0.01 disgenet
Acidoses IGF1 phenotype C0001122 AlteredExpression 0.01 disgenet
Acidoses IGFBP3 phenotype C0001122 AlteredExpression 0.01 disgenet
Acidoses KCNK2 phenotype C0001122 Biomarker 0.01 disgenet
Acidoses IGK phenotype C0001122 Biomarker 0.01 disgenet
Acidoses SLC12A7 phenotype C0001122 Biomarker 0.01 disgenet
Acidoses GPR65 phenotype C0001122 Biomarker 0.01 disgenet
Acidoses PDP1 phenotype C0001122 Biomarker 0.01 disgenet
Acidoses MCEE NA C0001122 NA NA orphanet
Acidoses SUGCT NA C0001122 NA NA orphanet
Acidoses MRPS22 NA C0001122 NA NA orphanet
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