Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Mucolipidoses NEU1 disease C0026697 PosttranslationalModification 0.6 disgenet
Mucolipidoses NEU1 disease C0026697 Biomarker 0.6 disgenet
Mucolipidoses NEU1 disease C0026697 GeneticVariation 0.6 disgenet
Mucolipidoses NEU1 disease C0026697 AlteredExpression 0.6 disgenet
Mucolipidoses MCOLN1 disease C0026697 GeneticVariation 0.45 disgenet
Mucolipidoses MCOLN1 disease C0026697 Biomarker 0.45 disgenet
Mucolipidoses MCOLN1 disease C0026697 CausalMutation 0.45 disgenet
Mucolipidoses GNPTAB disease C0026697 AlteredExpression 0.2 disgenet
Mucolipidoses GNPTAB disease C0026697 Biomarker 0.2 disgenet
Mucolipidoses GNPTAB disease C0026697 GeneticVariation 0.2 disgenet
Mucolipidoses GNPTAB disease C0026697 CausalMutation 0.2 disgenet
Mucolipidoses GNPTG disease C0026697 GeneticVariation 0.13 disgenet
Mucolipidoses GLB1 disease C0026697 Biomarker 0.04 disgenet
Mucolipidoses GLB1 disease C0026697 GeneticVariation 0.04 disgenet
Mucolipidoses CTSA disease C0026697 Biomarker 0.03 disgenet
Mucolipidoses CTSA disease C0026697 AlteredExpression 0.03 disgenet
Mucolipidoses CTSA disease C0026697 GeneticVariation 0.03 disgenet
Mucolipidoses NEURL1 disease C0026697 GeneticVariation 0.02 disgenet
Mucolipidoses DPAGT1 disease C0026697 GeneticVariation 0.01 disgenet
Mucolipidoses NAGPA disease C0026697 GeneticVariation 0.01 disgenet
Mucolipidoses IDS disease C0026697 GeneticVariation 0.01 disgenet
Mucolipidoses IDUA disease C0026697 GeneticVariation 0.01 disgenet
Mucolipidoses ERBB2 disease C0026697 GeneticVariation 0.01 disgenet
Mucolipidoses OGA disease C0026697 Biomarker 0.01 disgenet
Mucolipidoses FUCA2 disease C0026697 Biomarker 0.01 disgenet
Mucolipidoses CHIT1 disease C0026697 Biomarker 0.01 disgenet
Mucolipidoses ESA4 disease C0026697 Biomarker 0.01 disgenet
Mucolipidoses EGFL7 disease C0026697 GeneticVariation 0.01 disgenet
Mucolipidoses DHCR7 disease C0026697 Biomarker 0.01 disgenet
Mucolipidoses HPRT1 disease C0026697 Biomarker 0.01 disgenet
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