Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Aniridia PAX6 disease C0003076 CausalMutation 1 orphanet , disgenet
Aniridia PAX6 disease C0003076 Biomarker 1 orphanet , disgenet
Aniridia PAX6 disease C0003076 GermlineCausalMutation 1 orphanet , disgenet
Aniridia PAX6 disease C0003076 GeneticVariation 1 orphanet , disgenet
Aniridia PAX6 disease C0003076 AlteredExpression 1 orphanet , disgenet
Aniridia TRIM44 disease C0003076 GermlineCausalMutation 0.61 orphanet , disgenet
Aniridia TRIM44 disease C0003076 AlteredExpression 0.61 orphanet , disgenet
Aniridia TRIM44 disease C0003076 Biomarker 0.61 orphanet , disgenet
Aniridia WT1 disease C0003076 Biomarker 0.48 disgenet
Aniridia WT1 disease C0003076 GeneticVariation 0.48 disgenet
Aniridia FOXC1 disease C0003076 Biomarker 0.44 orphanet , disgenet
Aniridia FOXC1 disease C0003076 GermlineCausalMutation 0.44 orphanet , disgenet
Aniridia FOXC1 disease C0003076 GeneticVariation 0.44 orphanet , disgenet
Aniridia ELP4 disease C0003076 GeneticVariation 0.43 disgenet
Aniridia ELP4 disease C0003076 Biomarker 0.43 disgenet
Aniridia ELP4 disease C0003076 CausalMutation 0.43 disgenet
Aniridia FOXD3 disease C0003076 Biomarker 0.3 disgenet
Aniridia PITX2 disease C0003076 GeneticVariation 0.15 disgenet
Aniridia PITX2 disease C0003076 Biomarker 0.15 disgenet
Aniridia FOXE3 disease C0003076 GeneticVariation 0.11 disgenet
Aniridia FOXE3 disease C0003076 Biomarker 0.11 disgenet
Aniridia COL25A1 disease C0003076 Biomarker 0.1 disgenet
Aniridia DIS3L2 disease C0003076 Biomarker 0.1 disgenet
Aniridia TMEM127 disease C0003076 Biomarker 0.1 disgenet
Aniridia DLX5 disease C0003076 Biomarker 0.1 disgenet
Aniridia SDHB disease C0003076 Biomarker 0.1 disgenet
Aniridia DLST disease C0003076 Biomarker 0.1 disgenet
Aniridia SEM1 disease C0003076 Biomarker 0.1 disgenet
Aniridia BTRC disease C0003076 Biomarker 0.1 disgenet
Aniridia LDHD disease C0003076 Biomarker 0.1 disgenet
Aniridia PORCN disease C0003076 Biomarker 0.1 disgenet
Aniridia TRIM28 disease C0003076 Biomarker 0.1 disgenet
Aniridia SDHA disease C0003076 Biomarker 0.1 disgenet
Aniridia REST disease C0003076 Biomarker 0.1 disgenet
Aniridia TP63 disease C0003076 Biomarker 0.1 disgenet
Aniridia DLX6 disease C0003076 Biomarker 0.1 disgenet
Aniridia BRCA2 disease C0003076 Biomarker 0.1 disgenet
Aniridia KIF1B disease C0003076 Biomarker 0.1 disgenet
Aniridia MDH2 disease C0003076 Biomarker 0.1 disgenet
Aniridia EPS15L1 disease C0003076 Biomarker 0.1 disgenet
Aniridia SDHD disease C0003076 Biomarker 0.1 disgenet
Aniridia FH disease C0003076 Biomarker 0.1 disgenet
Aniridia VHL disease C0003076 Biomarker 0.1 disgenet
Aniridia SLC25A11 disease C0003076 Biomarker 0.1 disgenet
Aniridia CHN1 disease C0003076 Biomarker 0.1 disgenet
Aniridia TRIP13 disease C0003076 Biomarker 0.1 disgenet
Aniridia ITPR1 disease C0003076 Biomarker 0.1 orphanet , disgenet
Aniridia GPC3 disease C0003076 Biomarker 0.1 disgenet
Aniridia FAM111A disease C0003076 Biomarker 0.1 disgenet
Aniridia SDHAF2 disease C0003076 Biomarker 0.1 disgenet
Aniridia WNT10B disease C0003076 Biomarker 0.1 disgenet
Aniridia MAX disease C0003076 Biomarker 0.1 disgenet
Aniridia MAFB disease C0003076 Biomarker 0.1 disgenet
Aniridia POU6F2 disease C0003076 Biomarker 0.1 disgenet
Aniridia RET disease C0003076 Biomarker 0.1 disgenet
Aniridia SDHC disease C0003076 Biomarker 0.1 disgenet
Aniridia H19 disease C0003076 Biomarker 0.1 disgenet
Aniridia CAT disease C0003076 GeneticVariation 0.09 disgenet
Aniridia CAT disease C0003076 AlteredExpression 0.09 disgenet
Aniridia CAT disease C0003076 Biomarker 0.09 disgenet
Aniridia DEL11P13 disease C0003076 Biomarker 0.07 disgenet
Aniridia DEL11P13 disease C0003076 GeneticVariation 0.07 disgenet
Aniridia ACP1 disease C0003076 Biomarker 0.03 disgenet
Aniridia ACP1 disease C0003076 GeneticVariation 0.03 disgenet
Aniridia PAX3 disease C0003076 GeneticVariation 0.02 disgenet
Aniridia CYP1B1 disease C0003076 GeneticVariation 0.02 disgenet
Aniridia HRAS disease C0003076 Biomarker 0.02 disgenet
Aniridia HRAS disease C0003076 GeneticVariation 0.02 disgenet
Aniridia NR2E1 disease C0003076 GeneticVariation 0.01 disgenet
Aniridia SLURP1 disease C0003076 Biomarker 0.01 disgenet
Aniridia PHF21A disease C0003076 Biomarker 0.01 disgenet
Aniridia ALDH1A1 disease C0003076 AlteredExpression 0.01 disgenet
Aniridia OTX2 disease C0003076 GeneticVariation 0.01 disgenet
Aniridia SIX6 disease C0003076 GeneticVariation 0.01 disgenet
Aniridia RIEG2 disease C0003076 Biomarker 0.01 disgenet
Aniridia KIF21A disease C0003076 GeneticVariation 0.01 disgenet
Aniridia BCR disease C0003076 Biomarker 0.01 disgenet
Aniridia NRAS disease C0003076 Biomarker 0.01 disgenet
Aniridia MTOR disease C0003076 Biomarker 0.01 disgenet
Aniridia WT1-AS disease C0003076 GeneticVariation 0.01 disgenet
Aniridia ARSD disease C0003076 Biomarker 0.01 disgenet
Aniridia APOB disease C0003076 Biomarker 0.01 disgenet
Aniridia CTNNB1 disease C0003076 Biomarker 0.01 disgenet
Aniridia CCL3 disease C0003076 Biomarker 0.01 disgenet
Aniridia SERPINB1 disease C0003076 Biomarker 0.01 disgenet
Aniridia NOTCH1 disease C0003076 Biomarker 0.01 disgenet
Aniridia ADH7 disease C0003076 Biomarker 0.01 disgenet
Aniridia PAX2 disease C0003076 Biomarker 0.01 disgenet
Aniridia OCA2 disease C0003076 GeneticVariation 0.01 disgenet
Aniridia EGF disease C0003076 Biomarker 0.01 disgenet
Aniridia DCPS disease C0003076 Biomarker 0.01 disgenet
Aniridia LGR4 disease C0003076 Biomarker 0.01 disgenet
Aniridia ATP2A2 disease C0003076 GeneticVariation 0.01 disgenet
Aniridia KRT12 disease C0003076 AlteredExpression 0.01 disgenet
Aniridia CXCL8 disease C0003076 AlteredExpression 0.01 disgenet
Aniridia RASSF7 disease C0003076 Biomarker 0.01 disgenet
Aniridia DEL11P13 disease C0003076 Biomarker 0.01 disgenet
Aniridia RN7SL263P disease C0003076 GeneticVariation 0.01 disgenet
Aniridia GPR143 disease C0003076 GeneticVariation 0.01 disgenet
Aniridia FGF2 disease C0003076 Biomarker 0.01 disgenet
Aniridia VEGFA disease C0003076 AlteredExpression 0.01 disgenet
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