Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Hydrophthalmos CYP1B1 disease C0020302 Biomarker 0.5 orphanet , disgenet
Hydrophthalmos CYP1B1 disease C0020302 GeneticVariation 0.5 orphanet , disgenet
Hydrophthalmos CYP1B1 disease C0020302 GermlineCausalMutation 0.5 orphanet , disgenet
Hydrophthalmos MYOC disease C0020302 AlteredExpression 0.4 orphanet , disgenet
Hydrophthalmos MYOC disease C0020302 GermlineCausalMutation 0.4 orphanet , disgenet
Hydrophthalmos MYOC disease C0020302 Biomarker 0.4 orphanet , disgenet
Hydrophthalmos MYOC disease C0020302 GeneticVariation 0.4 orphanet , disgenet
Hydrophthalmos LTBP2 disease C0020302 GeneticVariation 0.33 orphanet , disgenet
Hydrophthalmos LTBP2 disease C0020302 Biomarker 0.33 orphanet , disgenet
Hydrophthalmos LTBP2 disease C0020302 GermlineCausalMutation 0.33 orphanet , disgenet
Hydrophthalmos GLIS3 disease C0020302 Biomarker 0.3 disgenet
Hydrophthalmos TEK disease C0020302 GermlineCausalMutation 0.3 orphanet , disgenet
Hydrophthalmos FOXC1 disease C0020302 Biomarker 0.2 disgenet
Hydrophthalmos FOXC1 disease C0020302 GeneticVariation 0.2 disgenet
Hydrophthalmos PITX2 disease C0020302 Biomarker 0.14 disgenet
Hydrophthalmos PITX2 disease C0020302 GeneticVariation 0.14 disgenet
Hydrophthalmos FUT8 disease C0020302 Biomarker 0.11 disgenet
Hydrophthalmos PAX6 disease C0020302 AlteredExpression 0.11 disgenet
Hydrophthalmos PAX6 disease C0020302 Biomarker 0.11 disgenet
Hydrophthalmos FUT8 disease C0020302 GeneticVariation 0.11 disgenet
Hydrophthalmos SH3PXD2B disease C0020302 GeneticVariation 0.11 disgenet
Hydrophthalmos OCRL disease C0020302 Biomarker 0.11 disgenet
Hydrophthalmos OCRL disease C0020302 GeneticVariation 0.11 disgenet
Hydrophthalmos SH3PXD2B disease C0020302 Biomarker 0.11 disgenet
Hydrophthalmos ADAMTSL1 disease C0020302 Biomarker 0.11 disgenet
Hydrophthalmos ADAMTSL1 disease C0020302 GeneticVariation 0.11 disgenet
Hydrophthalmos IFIH1 disease C0020302 Biomarker 0.1 disgenet
Hydrophthalmos AKT1 disease C0020302 Biomarker 0.1 disgenet
Hydrophthalmos ADAR disease C0020302 Biomarker 0.1 disgenet
Hydrophthalmos RNASEH2C disease C0020302 Biomarker 0.1 disgenet
Hydrophthalmos POMGNT1 disease C0020302 Biomarker 0.1 disgenet
Hydrophthalmos CANT1 disease C0020302 Biomarker 0.1 disgenet
Hydrophthalmos B3GAT3 disease C0020302 Biomarker 0.1 disgenet
Hydrophthalmos ATOH7 disease C0020302 Biomarker 0.1 disgenet
Hydrophthalmos TWIST1 disease C0020302 Biomarker 0.1 disgenet
Hydrophthalmos PTEN disease C0020302 Biomarker 0.1 disgenet
Hydrophthalmos POMT2 disease C0020302 Biomarker 0.1 disgenet
Hydrophthalmos RNASEH2B disease C0020302 Biomarker 0.1 disgenet
Hydrophthalmos SAMHD1 disease C0020302 Biomarker 0.1 disgenet
Hydrophthalmos SRY disease C0020302 Biomarker 0.1 disgenet
Hydrophthalmos FLNA disease C0020302 Biomarker 0.1 disgenet
Hydrophthalmos PYCR1 disease C0020302 Biomarker 0.1 disgenet
Hydrophthalmos DAG1 disease C0020302 Biomarker 0.1 disgenet
Hydrophthalmos NCAPG2 disease C0020302 Biomarker 0.1 disgenet
Hydrophthalmos CHST3 disease C0020302 Biomarker 0.1 disgenet
Hydrophthalmos MAB21L1 disease C0020302 Biomarker 0.1 disgenet
Hydrophthalmos FGFR2 disease C0020302 Biomarker 0.1 disgenet
Hydrophthalmos FKRP disease C0020302 Biomarker 0.1 disgenet
Hydrophthalmos FOXE3 disease C0020302 Biomarker 0.1 disgenet
Hydrophthalmos FKTN disease C0020302 Biomarker 0.1 disgenet
Hydrophthalmos POMT1 disease C0020302 Biomarker 0.1 disgenet
Hydrophthalmos GNAQ disease C0020302 Biomarker 0.1 disgenet
Hydrophthalmos LARGE1 disease C0020302 Biomarker 0.1 disgenet
Hydrophthalmos RNASEH2A disease C0020302 Biomarker 0.1 disgenet
Hydrophthalmos TREX1 disease C0020302 Biomarker 0.1 disgenet
Hydrophthalmos PXDN disease C0020302 GeneticVariation 0.03 disgenet
Hydrophthalmos CYP2B6 disease C0020302 GeneticVariation 0.02 disgenet
Hydrophthalmos GLC3B disease C0020302 GeneticVariation 0.01 disgenet
Hydrophthalmos GPATCH3 disease C0020302 Biomarker 0.01 disgenet
Hydrophthalmos FOXC2 disease C0020302 GeneticVariation 0.01 disgenet
Hydrophthalmos GDAP1 disease C0020302 Biomarker 0.01 disgenet
Hydrophthalmos PLXNA2 disease C0020302 Biomarker 0.01 disgenet
Hydrophthalmos TYR disease C0020302 Biomarker 0.01 disgenet
Hydrophthalmos AR disease C0020302 GeneticVariation 0.01 disgenet
Hydrophthalmos LGALS7B disease C0020302 Biomarker 0.01 disgenet
Hydrophthalmos NUFIP2 disease C0020302 Biomarker 0.01 disgenet
Hydrophthalmos ARSD disease C0020302 GeneticVariation 0.01 disgenet
Hydrophthalmos LTBP3 disease C0020302 Biomarker 0.01 disgenet
Hydrophthalmos KMT2B disease C0020302 GeneticVariation 0.01 disgenet
Hydrophthalmos VAV3 disease C0020302 GeneticVariation 0.01 disgenet
Hydrophthalmos KMT2D disease C0020302 GeneticVariation 0.01 disgenet
Hydrophthalmos LGALS7 disease C0020302 Biomarker 0.01 disgenet
Hydrophthalmos GJA1 disease C0020302 GeneticVariation 0.01 disgenet
Hydrophthalmos ARHGAP1 disease C0020302 GeneticVariation 0.01 disgenet
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