Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Peters anomaly PAX6 disease C0344559 GermlineCausalMutation 1 disgenet
Peters anomaly PAX6 disease C0344559 GeneticVariation 1 disgenet
Peters anomaly PAX6 disease C0344559 Biomarker 1 disgenet
Peters anomaly FOXC1 disease C0344559 GermlineCausalMutation 0.62 disgenet
Peters anomaly FOXC1 disease C0344559 GeneticVariation 0.62 disgenet
Peters anomaly FOXC1 disease C0344559 Biomarker 0.62 disgenet
Peters anomaly PITX2 disease C0344559 GeneticVariation 0.61 disgenet
Peters anomaly PITX2 disease C0344559 Biomarker 0.61 disgenet
Peters anomaly CYP1B1 disease C0344559 Biomarker 0.45 disgenet
Peters anomaly CYP1B1 disease C0344559 GermlineCausalMutation 0.45 disgenet
Peters anomaly CYP1B1 disease C0344559 GeneticVariation 0.45 disgenet
Peters anomaly FOXE3 disease C0344559 Biomarker 0.42 disgenet
Peters anomaly FOXE3 disease C0344559 GermlineCausalMutation 0.42 disgenet
Peters anomaly WDR37 disease C0344559 Biomarker 0.3 disgenet
Peters anomaly FOXD3 disease C0344559 Biomarker 0.3 disgenet
Peters anomaly KERA disease C0344559 Biomarker 0.2 disgenet
Peters anomaly B3GLCT disease C0344559 Biomarker 0.12 disgenet
Peters anomaly B3GLCT disease C0344559 GeneticVariation 0.12 disgenet
Peters anomaly PITX3 disease C0344559 Biomarker 0.11 disgenet
Peters anomaly CRPPA disease C0344559 Biomarker 0.1 disgenet
Peters anomaly NCAPG2 disease C0344559 Biomarker 0.1 disgenet
Peters anomaly POMT2 disease C0344559 Biomarker 0.1 disgenet
Peters anomaly POMT1 disease C0344559 Biomarker 0.1 disgenet
Peters anomaly TRIM44 disease C0344559 Biomarker 0.1 disgenet
Peters anomaly LARGE1 disease C0344559 Biomarker 0.1 disgenet
Peters anomaly FKRP disease C0344559 Biomarker 0.1 disgenet
Peters anomaly CENPF disease C0344559 Biomarker 0.1 disgenet
Peters anomaly FKTN disease C0344559 Biomarker 0.1 disgenet
Peters anomaly NECTIN1 disease C0344559 Biomarker 0.01 disgenet
Peters anomaly RBL2 disease C0344559 GeneticVariation 0.01 disgenet
Peters anomaly FLNA disease C0344559 Biomarker 0.01 disgenet
Peters anomaly SLC4A11 disease C0344559 Biomarker 0.01 disgenet
Peters anomaly DNAJB1 disease C0344559 AlteredExpression 0.01 disgenet
Peters anomaly TFAP2A disease C0344559 Biomarker 0.01 disgenet
Peters anomaly RB1 disease C0344559 GeneticVariation 0.01 disgenet
Peters anomaly CDH2 disease C0344559 Biomarker 0.01 disgenet
Peters anomaly OAF disease C0344559 Biomarker 0.01 disgenet
Peters anomaly SHOX disease C0344559 GeneticVariation 0.01 disgenet
Peters anomaly PAX1 disease C0344559 GeneticVariation 0.01 disgenet
Peters anomaly HDAC9 disease C0344559 Biomarker 0.01 disgenet
Peters anomaly SOSTDC1 disease C0344559 AlteredExpression 0.01 disgenet
Peters anomaly SOX3 disease C0344559 Biomarker 0.01 disgenet
Peters anomaly PAX3 disease C0344559 GeneticVariation 0.01 disgenet
Peters anomaly NDP disease C0344559 Biomarker 0.01 disgenet
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