Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Primary hyperoxaluria type 1 AGXT disease C0268164 GeneticVariation 0.8 orphanet , disgenet
Primary hyperoxaluria type 1 AGXT disease C0268164 AlteredExpression 0.8 orphanet , disgenet
Primary hyperoxaluria type 1 AGXT disease C0268164 Biomarker 0.8 orphanet , disgenet
Primary hyperoxaluria type 1 AGXT disease C0268164 GermlineCausalMutation 0.8 orphanet , disgenet
Primary hyperoxaluria type 1 AGXT disease C0268164 CausalMutation 0.8 orphanet , disgenet
Primary hyperoxaluria type 1 AGK disease C0268164 Biomarker 0.3 disgenet
Primary hyperoxaluria type 1 AGT disease C0268164 GeneticVariation 0.1 disgenet
Primary hyperoxaluria type 1 AGT disease C0268164 AlteredExpression 0.1 disgenet
Primary hyperoxaluria type 1 AGT disease C0268164 Biomarker 0.1 disgenet
Primary hyperoxaluria type 1 HAO1 disease C0268164 GeneticVariation 0.05 disgenet
Primary hyperoxaluria type 1 HAO1 disease C0268164 AlteredExpression 0.05 disgenet
Primary hyperoxaluria type 1 HAO1 disease C0268164 Biomarker 0.05 disgenet
Primary hyperoxaluria type 1 HAO2 disease C0268164 Biomarker 0.05 disgenet
Primary hyperoxaluria type 1 HAO2 disease C0268164 AlteredExpression 0.05 disgenet
Primary hyperoxaluria type 1 HAO2 disease C0268164 GeneticVariation 0.05 disgenet
Primary hyperoxaluria type 1 GRHPR disease C0268164 GeneticVariation 0.02 disgenet
Primary hyperoxaluria type 1 GRHPR disease C0268164 Biomarker 0.02 disgenet
Primary hyperoxaluria type 1 PTHLH disease C0268164 Biomarker 0.02 disgenet
Primary hyperoxaluria type 1 SOSTDC1 disease C0268164 AlteredExpression 0.01 disgenet
Primary hyperoxaluria type 1 PAEP disease C0268164 Biomarker 0.01 disgenet
Primary hyperoxaluria type 1 C4orf3 disease C0268164 Biomarker 0.01 disgenet
Primary hyperoxaluria type 1 OR10A4 disease C0268164 Biomarker 0.01 disgenet
Primary hyperoxaluria type 1 APPBP2 disease C0268164 Biomarker 0.01 disgenet
Primary hyperoxaluria type 1 HSPD1 disease C0268164 GeneticVariation 0.01 disgenet
Primary hyperoxaluria type 1 SLC26A3 disease C0268164 Biomarker 0.01 disgenet
Primary hyperoxaluria type 1 SLC36A1 disease C0268164 Biomarker 0.01 disgenet
Primary hyperoxaluria type 1 PRDX5 disease C0268164 Biomarker 0.01 disgenet
Primary hyperoxaluria type 1 PAX2 disease C0268164 Biomarker 0.01 disgenet
Primary hyperoxaluria type 1 AAVS1 disease C0268164 Biomarker 0.01 disgenet
Primary hyperoxaluria type 1 DAO disease C0268164 Biomarker 0.01 disgenet
Primary hyperoxaluria type 1 HSPA14 disease C0268164 GeneticVariation 0.01 disgenet
Primary hyperoxaluria type 1 TTR disease C0268164 GeneticVariation 0.01 disgenet
Primary hyperoxaluria type 1 PLP1 disease C0268164 Biomarker 0.01 disgenet
Primary hyperoxaluria type 1 RET disease C0268164 GeneticVariation 0.01 disgenet
Primary hyperoxaluria type 1 SUMO1 disease C0268164 Biomarker 0.01 disgenet
Primary hyperoxaluria type 1 SP100 disease C0268164 Biomarker 0.01 disgenet
Primary hyperoxaluria type 1 PDXP disease C0268164 Biomarker 0.01 disgenet
Primary hyperoxaluria type 1 NQO1 disease C0268164 GeneticVariation 0.01 disgenet
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