Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Limb-girdle muscular dystrophy type 2A CAPN3 disease C1869123 GeneticVariation 1 disgenet
Limb-girdle muscular dystrophy type 2A CAPN3 disease C1869123 AlteredExpression 1 disgenet
Limb-girdle muscular dystrophy type 2A CAPN3 disease C1869123 CausalMutation 1 disgenet
Limb-girdle muscular dystrophy type 2A CAPN3 disease C1869123 Biomarker 1 disgenet
Limb-girdle muscular dystrophy type 2A BRAF disease C1869123 Biomarker 0.04 disgenet
Limb-girdle muscular dystrophy type 2A DYSF disease C1869123 AlteredExpression 0.04 disgenet
Limb-girdle muscular dystrophy type 2A COG3 disease C1869123 Biomarker 0.04 disgenet
Limb-girdle muscular dystrophy type 2A DYSF disease C1869123 Biomarker 0.04 disgenet
Limb-girdle muscular dystrophy type 2A ANO5 disease C1869123 GeneticVariation 0.02 disgenet
Limb-girdle muscular dystrophy type 2A FRZB disease C1869123 AlteredExpression 0.02 disgenet
Limb-girdle muscular dystrophy type 2A TTN disease C1869123 Biomarker 0.02 disgenet
Limb-girdle muscular dystrophy type 2A CAPN5 disease C1869123 GeneticVariation 0.01 disgenet
Limb-girdle muscular dystrophy type 2A FLNC disease C1869123 GeneticVariation 0.01 disgenet
Limb-girdle muscular dystrophy type 2A FKRP disease C1869123 Biomarker 0.01 disgenet
Limb-girdle muscular dystrophy type 2A SGCD disease C1869123 GeneticVariation 0.01 disgenet
Limb-girdle muscular dystrophy type 2A POMT1 disease C1869123 GeneticVariation 0.01 disgenet
Limb-girdle muscular dystrophy type 2A GH1 disease C1869123 GeneticVariation 0.01 disgenet
Limb-girdle muscular dystrophy type 2A DNAH8 disease C1869123 Biomarker 0.01 disgenet
Limb-girdle muscular dystrophy type 2A FKTN disease C1869123 Biomarker 0.01 disgenet
Limb-girdle muscular dystrophy type 2A CTNNB1 disease C1869123 AlteredExpression 0.01 disgenet
Limb-girdle muscular dystrophy type 2A ACTB disease C1869123 AlteredExpression 0.01 disgenet
Limb-girdle muscular dystrophy type 2A PLEC disease C1869123 Biomarker 0.01 disgenet
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