Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Scleroatonic muscular dystrophy COL6A3 disease C0410179 CausalMutation 1 disgenet
Scleroatonic muscular dystrophy COL6A3 disease C0410179 GermlineCausalMutation 1 disgenet
Scleroatonic muscular dystrophy COL6A3 disease C0410179 GeneticVariation 1 disgenet
Scleroatonic muscular dystrophy COL6A3 disease C0410179 Biomarker 1 disgenet
Scleroatonic muscular dystrophy COL6A3 disease C0410179 AlteredExpression 1 disgenet
Scleroatonic muscular dystrophy COL6A2 disease C0410179 GermlineCausalMutation 0.8 disgenet
Scleroatonic muscular dystrophy COL6A1 disease C0410179 CausalMutation 0.8 disgenet
Scleroatonic muscular dystrophy COL6A2 disease C0410179 CausalMutation 0.8 disgenet
Scleroatonic muscular dystrophy COL6A2 disease C0410179 AlteredExpression 0.8 disgenet
Scleroatonic muscular dystrophy COL6A2 disease C0410179 GeneticVariation 0.8 disgenet
Scleroatonic muscular dystrophy COL6A1 disease C0410179 GeneticVariation 0.8 disgenet
Scleroatonic muscular dystrophy COL6A2 disease C0410179 Biomarker 0.8 disgenet
Scleroatonic muscular dystrophy COL6A1 disease C0410179 GermlineCausalMutation 0.8 disgenet
Scleroatonic muscular dystrophy COL6A1 disease C0410179 Biomarker 0.8 disgenet
Scleroatonic muscular dystrophy COL12A1 disease C0410179 Biomarker 0.5 disgenet
Scleroatonic muscular dystrophy COL12A1 disease C0410179 GermlineCausalMutation 0.5 disgenet
Scleroatonic muscular dystrophy DMD disease C0410179 Biomarker 0.02 disgenet
Scleroatonic muscular dystrophy DMD disease C0410179 AlteredExpression 0.02 disgenet
Scleroatonic muscular dystrophy FN1 disease C0410179 Biomarker 0.02 disgenet
Scleroatonic muscular dystrophy TNC disease C0410179 AlteredExpression 0.01 disgenet
Scleroatonic muscular dystrophy LAMA2 disease C0410179 Biomarker 0.01 disgenet
Scleroatonic muscular dystrophy GPX4 disease C0410179 Biomarker 0.01 disgenet
Scleroatonic muscular dystrophy SMCP disease C0410179 Biomarker 0.01 disgenet
Scleroatonic muscular dystrophy UPF1 disease C0410179 Biomarker 0.01 disgenet
Scleroatonic muscular dystrophy SEMA6A disease C0410179 Biomarker 0.01 disgenet
Scleroatonic muscular dystrophy VWF disease C0410179 GeneticVariation 0.01 disgenet
Scleroatonic muscular dystrophy SMG1 disease C0410179 Biomarker 0.01 disgenet
Scleroatonic muscular dystrophy BGN disease C0410179 Biomarker 0.01 disgenet
Scleroatonic muscular dystrophy CSPG4 disease C0410179 Biomarker 0.01 disgenet
Scleroatonic muscular dystrophy COL6A5 disease C0410179 GeneticVariation 0.01 disgenet
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