Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Leukodystrophies, Metachromatic ARSA disease C0023522 Biomarker 1 orphanet , disgenet
Leukodystrophies, Metachromatic ARSA disease C0023522 GeneticVariation 1 orphanet , disgenet
Leukodystrophies, Metachromatic ARSA disease C0023522 AlteredExpression 1 orphanet , disgenet
Leukodystrophies, Metachromatic ARSA disease C0023522 CausalMutation 1 orphanet , disgenet
Leukodystrophies, Metachromatic PSAP disease C0023522 AlteredExpression 0.3 orphanet , disgenet
Leukodystrophies, Metachromatic PSAP disease C0023522 Biomarker 0.3 orphanet , disgenet
Leukodystrophies, Metachromatic PSAP disease C0023522 GeneticVariation 0.3 orphanet , disgenet
Leukodystrophies, Metachromatic ARSB disease C0023522 GeneticVariation 0.1 disgenet
Leukodystrophies, Metachromatic ARSB disease C0023522 CausalMutation 0.1 disgenet
Leukodystrophies, Metachromatic GLB1 disease C0023522 AlteredExpression 0.02 disgenet
Leukodystrophies, Metachromatic GLB1 disease C0023522 Biomarker 0.02 disgenet
Leukodystrophies, Metachromatic SUMF1 disease C0023522 Biomarker 0.02 disgenet
Leukodystrophies, Metachromatic SUMF1 disease C0023522 AlteredExpression 0.02 disgenet
Leukodystrophies, Metachromatic SLC6A3 disease C0023522 GeneticVariation 0.01 disgenet
Leukodystrophies, Metachromatic ACTB disease C0023522 Biomarker 0.01 disgenet
Leukodystrophies, Metachromatic IDS disease C0023522 GeneticVariation 0.01 disgenet
Leukodystrophies, Metachromatic DEFB4B disease C0023522 Biomarker 0.01 disgenet
Leukodystrophies, Metachromatic DEGS1 disease C0023522 Biomarker 0.01 disgenet
Leukodystrophies, Metachromatic SCLT1 disease C0023522 Biomarker 0.01 disgenet
Leukodystrophies, Metachromatic NPC1 disease C0023522 Biomarker 0.01 disgenet
Leukodystrophies, Metachromatic GALC disease C0023522 Biomarker 0.01 disgenet
Leukodystrophies, Metachromatic PSMA7 disease C0023522 GeneticVariation 0.01 disgenet
Leukodystrophies, Metachromatic FUT1 disease C0023522 GeneticVariation 0.01 disgenet
Leukodystrophies, Metachromatic SLC6A4 disease C0023522 GeneticVariation 0.01 disgenet
Leukodystrophies, Metachromatic LRP1 disease C0023522 GeneticVariation 0.01 disgenet
Leukodystrophies, Metachromatic DEFB4A disease C0023522 Biomarker 0.01 disgenet
Leukodystrophies, Metachromatic SMPD1 disease C0023522 GeneticVariation 0.01 disgenet
Leukodystrophies, Metachromatic APOE disease C0023522 GeneticVariation 0.01 disgenet
Leukodystrophies, Metachromatic PTPRH disease C0023522 Biomarker 0.01 disgenet
Leukodystrophies, Metachromatic HOXB4 disease C0023522 AlteredExpression 0.01 disgenet
Leukodystrophies, Metachromatic COX8A disease C0023522 GeneticVariation 0.01 disgenet
Leukodystrophies, Metachromatic ELK4 disease C0023522 Biomarker 0.01 disgenet
Leukodystrophies, Metachromatic CD24 disease C0023522 Biomarker 0.01 disgenet
Leukodystrophies, Metachromatic ADA disease C0023522 Biomarker 0.01 disgenet
Leukodystrophies, Metachromatic POTEF disease C0023522 Biomarker 0.01 disgenet
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