Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Oculocerebrorenal Syndrome OCRL disease C0028860 AlteredExpression 0.8 orphanet , disgenet
Oculocerebrorenal Syndrome OCRL disease C0028860 PosttranslationalModification 0.8 orphanet , disgenet
Oculocerebrorenal Syndrome OCRL disease C0028860 GeneticVariation 0.8 orphanet , disgenet
Oculocerebrorenal Syndrome OCRL disease C0028860 CausalMutation 0.8 orphanet , disgenet
Oculocerebrorenal Syndrome OCRL disease C0028860 Biomarker 0.8 orphanet , disgenet
Oculocerebrorenal Syndrome INPP5B disease C0028860 Biomarker 0.06 disgenet
Oculocerebrorenal Syndrome INPP5B disease C0028860 GeneticVariation 0.06 disgenet
Oculocerebrorenal Syndrome ACTB disease C0028860 Biomarker 0.04 disgenet
Oculocerebrorenal Syndrome CLCN5 disease C0028860 GeneticVariation 0.04 disgenet
Oculocerebrorenal Syndrome CLCN5 disease C0028860 Biomarker 0.04 disgenet
Oculocerebrorenal Syndrome ARHGAP1 disease C0028860 Biomarker 0.03 disgenet
Oculocerebrorenal Syndrome ARHGAP1 disease C0028860 GeneticVariation 0.03 disgenet
Oculocerebrorenal Syndrome PHETA1 disease C0028860 Biomarker 0.02 disgenet
Oculocerebrorenal Syndrome INPP5K disease C0028860 Biomarker 0.02 disgenet
Oculocerebrorenal Syndrome INPP5E disease C0028860 Biomarker 0.02 disgenet
Oculocerebrorenal Syndrome INPP5D disease C0028860 Biomarker 0.02 disgenet
Oculocerebrorenal Syndrome RAB5A disease C0028860 Biomarker 0.01 disgenet
Oculocerebrorenal Syndrome SHH disease C0028860 Biomarker 0.01 disgenet
Oculocerebrorenal Syndrome SIX2 disease C0028860 Biomarker 0.01 disgenet
Oculocerebrorenal Syndrome ASPM disease C0028860 Biomarker 0.01 disgenet
Oculocerebrorenal Syndrome PHETA2 disease C0028860 Biomarker 0.01 disgenet
Oculocerebrorenal Syndrome APPL1 disease C0028860 Biomarker 0.01 disgenet
Oculocerebrorenal Syndrome CTSD disease C0028860 Biomarker 0.01 disgenet
Oculocerebrorenal Syndrome ARSH disease C0028860 GeneticVariation 0.01 disgenet
Oculocerebrorenal Syndrome PAFAH1B1 disease C0028860 Biomarker 0.01 disgenet
Oculocerebrorenal Syndrome SLC22A8 disease C0028860 Biomarker 0.01 disgenet
Oculocerebrorenal Syndrome MTM1 disease C0028860 Biomarker 0.01 disgenet
Oculocerebrorenal Syndrome SCRN1 disease C0028860 Biomarker 0.01 disgenet
Oculocerebrorenal Syndrome ABCC4 disease C0028860 Biomarker 0.01 disgenet
Oculocerebrorenal Syndrome NR1H4 disease C0028860 Biomarker 0.01 disgenet
Oculocerebrorenal Syndrome SMARCA1 disease C0028860 PosttranslationalModification 0.01 disgenet
Oculocerebrorenal Syndrome AFP disease C0028860 AlteredExpression 0.01 disgenet
Oculocerebrorenal Syndrome G6PD disease C0028860 Biomarker 0.01 disgenet
Oculocerebrorenal Syndrome SCN7A disease C0028860 Biomarker 0.01 disgenet
Oculocerebrorenal Syndrome HOXD13 disease C0028860 Biomarker 0.01 disgenet
Oculocerebrorenal Syndrome ABCC2 disease C0028860 Biomarker 0.01 disgenet
Oculocerebrorenal Syndrome ANXA2 disease C0028860 Biomarker 0.01 disgenet
Oculocerebrorenal Syndrome CETP disease C0028860 GeneticVariation 0.01 disgenet
Oculocerebrorenal Syndrome PTEN disease C0028860 Biomarker 0.01 disgenet
Oculocerebrorenal Syndrome PLEK disease C0028860 Biomarker 0.01 disgenet
Oculocerebrorenal Syndrome SESN2 disease C0028860 Biomarker 0.01 disgenet
Oculocerebrorenal Syndrome INPP5A disease C0028860 GeneticVariation 0.01 disgenet
Oculocerebrorenal Syndrome NBAS disease C0028860 Biomarker 0.01 disgenet
Oculocerebrorenal Syndrome PTBP1 disease C0028860 Biomarker 0.01 disgenet
Oculocerebrorenal Syndrome SCRN2 disease C0028860 Biomarker 0.01 disgenet
Oculocerebrorenal Syndrome PTBP2 disease C0028860 Biomarker 0.01 disgenet
Oculocerebrorenal Syndrome HPRT1 disease C0028860 GeneticVariation 0.01 disgenet
Oculocerebrorenal Syndrome CES1 disease C0028860 Biomarker 0.01 disgenet
Oculocerebrorenal Syndrome BFAR disease C0028860 Biomarker 0.01 disgenet
Oculocerebrorenal Syndrome SLC22A6 disease C0028860 Biomarker 0.01 disgenet
Oculocerebrorenal Syndrome ADRB2 disease C0028860 Biomarker 0.01 disgenet
Oculocerebrorenal Syndrome PALLD disease C0028860 Biomarker 0.01 disgenet
Oculocerebrorenal Syndrome HTC2 disease C0028860 GeneticVariation 0.01 disgenet
Oculocerebrorenal Syndrome DCX disease C0028860 Biomarker 0.01 disgenet
Oculocerebrorenal Syndrome NAGLU disease C0028860 Biomarker 0.01 disgenet
Oculocerebrorenal Syndrome PIFO disease C0028860 Biomarker 0.01 disgenet
Oculocerebrorenal Syndrome PIP disease C0028860 Biomarker 0.01 disgenet
Oculocerebrorenal Syndrome MCOLN1 disease C0028860 AlteredExpression 0.01 disgenet
Oculocerebrorenal Syndrome SNX9 disease C0028860 Biomarker 0.01 disgenet
Oculocerebrorenal Syndrome GH1 disease C0028860 Biomarker 0.01 disgenet
Oculocerebrorenal Syndrome GRB2 disease C0028860 GeneticVariation 0.01 disgenet
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