Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Globoid Cell Leukodystrophies GALC disease C0023521 CausalMutation 1 orphanet , disgenet
Globoid Cell Leukodystrophies GALC disease C0023521 Biomarker 1 orphanet , disgenet
Globoid Cell Leukodystrophies GALC disease C0023521 AlteredExpression 1 orphanet , disgenet
Globoid Cell Leukodystrophies GALC disease C0023521 GeneticVariation 1 orphanet , disgenet
Globoid Cell Leukodystrophies PSAP disease C0023521 Biomarker 0.25 disgenet
Globoid Cell Leukodystrophies PSAP disease C0023521 GeneticVariation 0.25 disgenet
Globoid Cell Leukodystrophies GLB1 disease C0023521 GeneticVariation 0.05 disgenet
Globoid Cell Leukodystrophies GLB1 disease C0023521 Biomarker 0.05 disgenet
Globoid Cell Leukodystrophies GLB1 disease C0023521 AlteredExpression 0.05 disgenet
Globoid Cell Leukodystrophies SNCA disease C0023521 Biomarker 0.04 disgenet
Globoid Cell Leukodystrophies ARSA disease C0023521 Biomarker 0.03 disgenet
Globoid Cell Leukodystrophies ARSA disease C0023521 GeneticVariation 0.03 disgenet
Globoid Cell Leukodystrophies NFE2L2 disease C0023521 AlteredExpression 0.02 disgenet
Globoid Cell Leukodystrophies PIEZO1 disease C0023521 GeneticVariation 0.02 disgenet
Globoid Cell Leukodystrophies GMCL2 disease C0023521 Biomarker 0.02 disgenet
Globoid Cell Leukodystrophies GCA disease C0023521 Biomarker 0.02 disgenet
Globoid Cell Leukodystrophies GMCL1 disease C0023521 Biomarker 0.02 disgenet
Globoid Cell Leukodystrophies GCLC disease C0023521 Biomarker 0.02 disgenet
Globoid Cell Leukodystrophies IDUA disease C0023521 Biomarker 0.01 disgenet
Globoid Cell Leukodystrophies DEGS1 disease C0023521 Biomarker 0.01 disgenet
Globoid Cell Leukodystrophies PLB1 disease C0023521 AlteredExpression 0.01 disgenet
Globoid Cell Leukodystrophies ACTB disease C0023521 Biomarker 0.01 disgenet
Globoid Cell Leukodystrophies BECN1 disease C0023521 Biomarker 0.01 disgenet
Globoid Cell Leukodystrophies ANGPT2 disease C0023521 Biomarker 0.01 disgenet
Globoid Cell Leukodystrophies RNF139 disease C0023521 Biomarker 0.01 disgenet
Globoid Cell Leukodystrophies CSF2 disease C0023521 Biomarker 0.01 disgenet
Globoid Cell Leukodystrophies VHL disease C0023521 Biomarker 0.01 disgenet
Globoid Cell Leukodystrophies AAVS1 disease C0023521 GeneticVariation 0.01 disgenet
Globoid Cell Leukodystrophies EBP disease C0023521 Biomarker 0.01 disgenet
Globoid Cell Leukodystrophies LAMC2 disease C0023521 Biomarker 0.01 disgenet
Globoid Cell Leukodystrophies CHIT1 disease C0023521 AlteredExpression 0.01 disgenet
Globoid Cell Leukodystrophies IGF1 disease C0023521 AlteredExpression 0.01 disgenet
Globoid Cell Leukodystrophies YWHAZ disease C0023521 AlteredExpression 0.01 disgenet
Globoid Cell Leukodystrophies LAMP1 disease C0023521 AlteredExpression 0.01 disgenet
Globoid Cell Leukodystrophies PECAM1 disease C0023521 Biomarker 0.01 disgenet
Globoid Cell Leukodystrophies ASAH1 disease C0023521 Biomarker 0.01 disgenet
Globoid Cell Leukodystrophies IGF2R disease C0023521 AlteredExpression 0.01 disgenet
Globoid Cell Leukodystrophies TP53 disease C0023521 Biomarker 0.01 disgenet
Globoid Cell Leukodystrophies PLA2G1B disease C0023521 Biomarker 0.01 disgenet
Globoid Cell Leukodystrophies CASP3 disease C0023521 Biomarker 0.01 disgenet
Globoid Cell Leukodystrophies VPS51 disease C0023521 Biomarker 0.01 disgenet
Globoid Cell Leukodystrophies COL4A1 disease C0023521 Biomarker 0.01 disgenet
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