Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Mucopolysaccharidosis IV GALNS disease C0026707 CausalMutation 0.9 disgenet
Mucopolysaccharidosis IV GALNS disease C0026707 Biomarker 0.9 disgenet
Mucopolysaccharidosis IV GALNS disease C0026707 GeneticVariation 0.9 disgenet
Mucopolysaccharidosis IV GLB1 disease C0026707 Biomarker 0.52 disgenet
Mucopolysaccharidosis IV COMP disease C0026707 GeneticVariation 0.02 disgenet
Mucopolysaccharidosis IV RMRP disease C0026707 Biomarker 0.02 disgenet
Mucopolysaccharidosis IV RMRP disease C0026707 GeneticVariation 0.02 disgenet
Mucopolysaccharidosis IV COL2A1 disease C0026707 GeneticVariation 0.02 orphanet , disgenet
Mucopolysaccharidosis IV GOLGB1 disease C0026707 Biomarker 0.02 disgenet
Mucopolysaccharidosis IV GOLGB1 disease C0026707 AlteredExpression 0.02 disgenet
Mucopolysaccharidosis IV TRPV4 disease C0026707 GeneticVariation 0.02 orphanet , disgenet
Mucopolysaccharidosis IV COL2A1 disease C0026707 Biomarker 0.02 orphanet , disgenet
Mucopolysaccharidosis IV CRTAP disease C0026707 GeneticVariation 0.02 disgenet
Mucopolysaccharidosis IV COL10A1 disease C0026707 Biomarker 0.01 disgenet
Mucopolysaccharidosis IV IDS disease C0026707 Biomarker 0.01 disgenet
Mucopolysaccharidosis IV SPAM1 disease C0026707 AlteredExpression 0.01 disgenet
Mucopolysaccharidosis IV SLC26A2 disease C0026707 GeneticVariation 0.01 disgenet
Mucopolysaccharidosis IV SLC13A1 disease C0026707 GeneticVariation 0.01 disgenet
Mucopolysaccharidosis IV NEK1 disease C0026707 GeneticVariation 0.01 disgenet
Mucopolysaccharidosis IV FGFR3 disease C0026707 GeneticVariation 0.01 disgenet
Mucopolysaccharidosis IV TRAPPC2B disease C0026707 GeneticVariation 0.01 disgenet
Mucopolysaccharidosis IV TRAPPC2 disease C0026707 GeneticVariation 0.01 disgenet
Mucopolysaccharidosis IV RPL10 disease C0026707 GeneticVariation 0.01 orphanet , disgenet
Mucopolysaccharidosis IV P3H1 disease C0026707 GeneticVariation 0.01 disgenet
Mucopolysaccharidosis IV HYAL1 disease C0026707 AlteredExpression 0.01 disgenet
Mucopolysaccharidosis IV SHOX disease C0026707 GeneticVariation 0.01 disgenet
Mucopolysaccharidosis IV ARSB disease C0026707 GeneticVariation 0.01 disgenet
Mucopolysaccharidosis IV PLF disease C0026707 Biomarker 0.01 disgenet
Mucopolysaccharidosis IV GNPTG disease C0026707 GeneticVariation 0.01 disgenet
Mucopolysaccharidosis IV FKBP14 disease C0026707 Biomarker 0.01 disgenet
Mucopolysaccharidosis IV ACAN disease C0026707 Biomarker 0.01 orphanet , disgenet
Mucopolysaccharidosis IV TAPT1 disease C0026707 GeneticVariation 0.01 orphanet , disgenet
Mucopolysaccharidosis IV FLNB disease C0026707 GeneticVariation 0.01 disgenet
Mucopolysaccharidosis IV MIR140 NA C0026707 NA NA orphanet
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