Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Microphthalmia, syndromic 1 NAA10 disease C0796016 Biomarker 0.72 disgenet
Microphthalmia, syndromic 1 NAA10 disease C0796016 GermlineCausalMutation 0.72 disgenet
Microphthalmia, syndromic 1 NAA10 disease C0796016 CausalMutation 0.72 disgenet
Microphthalmia, syndromic 1 NAA10 disease C0796016 GeneticVariation 0.72 disgenet
Microphthalmia, syndromic 1 BCOR disease C0796016 GermlineCausalMutation 0.65 disgenet
Microphthalmia, syndromic 1 BCOR disease C0796016 Biomarker 0.65 disgenet
Microphthalmia, syndromic 1 BCOR disease C0796016 GeneticVariation 0.65 disgenet
Microphthalmia, syndromic 1 ARHGAP4 disease C0796016 CausalMutation 0.1 disgenet
Microphthalmia, syndromic 1 NAT10 disease C0796016 GeneticVariation 0.01 disgenet
Microphthalmia, syndromic 1 ANOP1 disease C0796016 GeneticVariation 0.01 disgenet
Microphthalmia, syndromic 1 LRP4 NA C0796016 NA NA orphanet
Microphthalmia, syndromic 1 APC NA C0796016 NA NA orphanet
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