Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Adrenal Hyperplasia, Congenital CYP17A1 disease C0001627 GeneticVariation 0.7 orphanet , disgenet
Adrenal Hyperplasia, Congenital CYP17A1 disease C0001627 Biomarker 0.7 orphanet , disgenet
Adrenal Hyperplasia, Congenital HSD3B2 disease C0001627 GeneticVariation 0.5 orphanet , disgenet
Adrenal Hyperplasia, Congenital CYP21A2 disease C0001627 PosttranslationalModification 0.5 disgenet
Adrenal Hyperplasia, Congenital CYP21A2 disease C0001627 Biomarker 0.5 disgenet
Adrenal Hyperplasia, Congenital HSD3B2 disease C0001627 Biomarker 0.5 orphanet , disgenet
Adrenal Hyperplasia, Congenital HSD3B2 disease C0001627 AlteredExpression 0.5 orphanet , disgenet
Adrenal Hyperplasia, Congenital CYP21A2 disease C0001627 AlteredExpression 0.5 disgenet
Adrenal Hyperplasia, Congenital CYP21A2 disease C0001627 GeneticVariation 0.5 disgenet
Adrenal Hyperplasia, Congenital POR disease C0001627 Biomarker 0.46 orphanet , disgenet
Adrenal Hyperplasia, Congenital POR disease C0001627 GeneticVariation 0.46 orphanet , disgenet
Adrenal Hyperplasia, Congenital PDE8B disease C0001627 GeneticVariation 0.42 disgenet
Adrenal Hyperplasia, Congenital PDE8B disease C0001627 Biomarker 0.42 disgenet
Adrenal Hyperplasia, Congenital PRKAR1A disease C0001627 Biomarker 0.4 disgenet
Adrenal Hyperplasia, Congenital HTR4 disease C0001627 Biomarker 0.3 disgenet
Adrenal Hyperplasia, Congenital AVPR1A disease C0001627 Biomarker 0.3 disgenet
Adrenal Hyperplasia, Congenital AVPR2 disease C0001627 Biomarker 0.3 disgenet
Adrenal Hyperplasia, Congenital CYP11B1 disease C0001627 GeneticVariation 0.2 disgenet
Adrenal Hyperplasia, Congenital CYP11B1 disease C0001627 Biomarker 0.2 disgenet
Adrenal Hyperplasia, Congenital STAR disease C0001627 GeneticVariation 0.14 disgenet
Adrenal Hyperplasia, Congenital STAR disease C0001627 Biomarker 0.14 disgenet
Adrenal Hyperplasia, Congenital CYP11B2 disease C0001627 AlteredExpression 0.13 disgenet
Adrenal Hyperplasia, Congenital CYP11B2 disease C0001627 Biomarker 0.13 disgenet
Adrenal Hyperplasia, Congenital PRKACA disease C0001627 GeneticVariation 0.12 disgenet
Adrenal Hyperplasia, Congenital KCNJ5 disease C0001627 GeneticVariation 0.12 disgenet
Adrenal Hyperplasia, Congenital KCNJ5 disease C0001627 Biomarker 0.12 disgenet
Adrenal Hyperplasia, Congenital PRKACA disease C0001627 Biomarker 0.12 disgenet
Adrenal Hyperplasia, Congenital PDE11A disease C0001627 GeneticVariation 0.12 disgenet
Adrenal Hyperplasia, Congenital PDE11A disease C0001627 Biomarker 0.12 disgenet
Adrenal Hyperplasia, Congenital POMC disease C0001627 Biomarker 0.1 disgenet
Adrenal Hyperplasia, Congenital USP8 disease C0001627 Biomarker 0.1 disgenet
Adrenal Hyperplasia, Congenital POMC disease C0001627 GeneticVariation 0.1 disgenet
Adrenal Hyperplasia, Congenital POMC disease C0001627 AlteredExpression 0.1 disgenet
Adrenal Hyperplasia, Congenital CYP21A1P disease C0001627 Biomarker 0.1 disgenet
Adrenal Hyperplasia, Congenital TBC1D24 disease C0001627 Biomarker 0.1 disgenet
Adrenal Hyperplasia, Congenital CACNA1D disease C0001627 Biomarker 0.1 disgenet
Adrenal Hyperplasia, Congenital GML disease C0001627 GeneticVariation 0.1 disgenet
Adrenal Hyperplasia, Congenital NR3C1 disease C0001627 Biomarker 0.1 disgenet
Adrenal Hyperplasia, Congenital CYP21A1P disease C0001627 GeneticVariation 0.1 disgenet
Adrenal Hyperplasia, Congenital AIRE disease C0001627 Biomarker 0.1 disgenet
Adrenal Hyperplasia, Congenital CYP2B6 disease C0001627 Biomarker 0.1 disgenet
Adrenal Hyperplasia, Congenital CYP2B6 disease C0001627 GeneticVariation 0.1 disgenet
Adrenal Hyperplasia, Congenital CDH23 disease C0001627 Biomarker 0.1 disgenet
Adrenal Hyperplasia, Congenital TNXB disease C0001627 GeneticVariation 0.06 disgenet
Adrenal Hyperplasia, Congenital TNXB disease C0001627 Biomarker 0.06 disgenet
Adrenal Hyperplasia, Congenital AR disease C0001627 Biomarker 0.05 disgenet
Adrenal Hyperplasia, Congenital AR disease C0001627 GeneticVariation 0.05 disgenet
Adrenal Hyperplasia, Congenital HSD3B1 disease C0001627 GeneticVariation 0.04 disgenet
Adrenal Hyperplasia, Congenital HSD3B1 disease C0001627 Biomarker 0.04 disgenet
Adrenal Hyperplasia, Congenital HLA-A disease C0001627 GeneticVariation 0.03 disgenet
Adrenal Hyperplasia, Congenital CHST3 disease C0001627 GeneticVariation 0.03 disgenet
Adrenal Hyperplasia, Congenital CHST3 disease C0001627 AlteredExpression 0.03 disgenet
Adrenal Hyperplasia, Congenital CYP19A1 disease C0001627 Biomarker 0.03 disgenet
Adrenal Hyperplasia, Congenital GLO1 disease C0001627 GeneticVariation 0.03 disgenet
Adrenal Hyperplasia, Congenital GLO1 disease C0001627 Biomarker 0.03 disgenet
Adrenal Hyperplasia, Congenital SRY disease C0001627 Biomarker 0.02 disgenet
Adrenal Hyperplasia, Congenital NR0B1 disease C0001627 GeneticVariation 0.02 disgenet
Adrenal Hyperplasia, Congenital CYP4F3 disease C0001627 Biomarker 0.02 disgenet
Adrenal Hyperplasia, Congenital MC2R disease C0001627 AlteredExpression 0.02 disgenet
Adrenal Hyperplasia, Congenital GIP disease C0001627 AlteredExpression 0.02 disgenet
Adrenal Hyperplasia, Congenital HLA-B disease C0001627 GeneticVariation 0.02 disgenet
Adrenal Hyperplasia, Congenital REN disease C0001627 GeneticVariation 0.02 disgenet
Adrenal Hyperplasia, Congenital GIP disease C0001627 Biomarker 0.02 disgenet
Adrenal Hyperplasia, Congenital CRH disease C0001627 Biomarker 0.02 disgenet
Adrenal Hyperplasia, Congenital TNXA disease C0001627 GeneticVariation 0.02 disgenet
Adrenal Hyperplasia, Congenital MC2R disease C0001627 Biomarker 0.02 disgenet
Adrenal Hyperplasia, Congenital RNU1-4 disease C0001627 GeneticVariation 0.02 disgenet
Adrenal Hyperplasia, Congenital CRH disease C0001627 AlteredExpression 0.02 disgenet
Adrenal Hyperplasia, Congenital GH1 disease C0001627 Biomarker 0.02 disgenet
Adrenal Hyperplasia, Congenital CYP2C19 disease C0001627 GeneticVariation 0.02 disgenet
Adrenal Hyperplasia, Congenital HLA-B disease C0001627 Biomarker 0.02 disgenet
Adrenal Hyperplasia, Congenital HSD11B2 disease C0001627 GeneticVariation 0.02 disgenet
Adrenal Hyperplasia, Congenital CYP4F3 disease C0001627 GeneticVariation 0.02 disgenet
Adrenal Hyperplasia, Congenital CYP2C19 disease C0001627 Biomarker 0.02 disgenet
Adrenal Hyperplasia, Congenital REN disease C0001627 Biomarker 0.02 disgenet
Adrenal Hyperplasia, Congenital HTC2 disease C0001627 Biomarker 0.01 disgenet
Adrenal Hyperplasia, Congenital TGM5 disease C0001627 GeneticVariation 0.01 disgenet
Adrenal Hyperplasia, Congenital LEP disease C0001627 Biomarker 0.01 disgenet
Adrenal Hyperplasia, Congenital SCO2 disease C0001627 GeneticVariation 0.01 disgenet
Adrenal Hyperplasia, Congenital OTOA disease C0001627 GeneticVariation 0.01 disgenet
Adrenal Hyperplasia, Congenital PPIG disease C0001627 GeneticVariation 0.01 disgenet
Adrenal Hyperplasia, Congenital SDHB disease C0001627 Biomarker 0.01 disgenet
Adrenal Hyperplasia, Congenital CYP3A7 disease C0001627 Biomarker 0.01 disgenet
Adrenal Hyperplasia, Congenital CYP2B7P disease C0001627 GeneticVariation 0.01 disgenet
Adrenal Hyperplasia, Congenital CGB3 disease C0001627 Biomarker 0.01 disgenet
Adrenal Hyperplasia, Congenital ATP7B disease C0001627 GeneticVariation 0.01 disgenet
Adrenal Hyperplasia, Congenital CYP11A1 disease C0001627 GeneticVariation 0.01 disgenet
Adrenal Hyperplasia, Congenital TP53 disease C0001627 GeneticVariation 0.01 disgenet
Adrenal Hyperplasia, Congenital VWF disease C0001627 GeneticVariation 0.01 disgenet
Adrenal Hyperplasia, Congenital AVP disease C0001627 Biomarker 0.01 disgenet
Adrenal Hyperplasia, Congenital MEN1 disease C0001627 AlteredExpression 0.01 disgenet
Adrenal Hyperplasia, Congenital C4B disease C0001627 GeneticVariation 0.01 disgenet
Adrenal Hyperplasia, Congenital HADHA disease C0001627 GeneticVariation 0.01 disgenet
Adrenal Hyperplasia, Congenital CGA disease C0001627 Biomarker 0.01 disgenet
Adrenal Hyperplasia, Congenital MDH2 disease C0001627 Biomarker 0.01 disgenet
Adrenal Hyperplasia, Congenital GRB7 disease C0001627 GeneticVariation 0.01 disgenet
Adrenal Hyperplasia, Congenital SULT2A1 disease C0001627 AlteredExpression 0.01 disgenet
Adrenal Hyperplasia, Congenital FH disease C0001627 Biomarker 0.01 disgenet
Adrenal Hyperplasia, Congenital HLA-DRB1 disease C0001627 GeneticVariation 0.01 disgenet
Adrenal Hyperplasia, Congenital SERPINA1 disease C0001627 GeneticVariation 0.01 disgenet
Adrenal Hyperplasia, Congenital ENPEP disease C0001627 Biomarker 0.01 disgenet
Adrenal Hyperplasia, Congenital AZF1 disease C0001627 GeneticVariation 0.01 disgenet
Adrenal Hyperplasia, Congenital TWIST1 disease C0001627 Biomarker 0.01 disgenet
Adrenal Hyperplasia, Congenital LOC110673972 disease C0001627 AlteredExpression 0.01 disgenet
Adrenal Hyperplasia, Congenital PRKACB disease C0001627 GeneticVariation 0.01 disgenet
Adrenal Hyperplasia, Congenital BCL2 disease C0001627 AlteredExpression 0.01 disgenet
Adrenal Hyperplasia, Congenital COASY disease C0001627 GeneticVariation 0.01 disgenet
Adrenal Hyperplasia, Congenital CGB5 disease C0001627 Biomarker 0.01 disgenet
Adrenal Hyperplasia, Congenital SDHD disease C0001627 Biomarker 0.01 disgenet
Adrenal Hyperplasia, Congenital ACADVL disease C0001627 GeneticVariation 0.01 disgenet
Adrenal Hyperplasia, Congenital PROP1 disease C0001627 GeneticVariation 0.01 disgenet
Adrenal Hyperplasia, Congenital ARMC5 disease C0001627 GeneticVariation 0.01 orphanet , disgenet
Adrenal Hyperplasia, Congenital EYS disease C0001627 GeneticVariation 0.01 disgenet
Adrenal Hyperplasia, Congenital CGB8 disease C0001627 Biomarker 0.01 disgenet
Adrenal Hyperplasia, Congenital RBM45 disease C0001627 GeneticVariation 0.01 disgenet
Adrenal Hyperplasia, Congenital TNC disease C0001627 Biomarker 0.01 disgenet
Adrenal Hyperplasia, Congenital CRYGD disease C0001627 Biomarker 0.01 disgenet
Adrenal Hyperplasia, Congenital GNAS NA C0001627 NA NA orphanet
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