Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Monomelic amyotrophy CEP126 disease C1865384 Biomarker 0.31 orphanet , disgenet
Monomelic amyotrophy CEP126 disease C1865384 SusceptibilityMutation 0.31 orphanet , disgenet
Monomelic amyotrophy CPLANE1 disease C1865384 SusceptibilityMutation 0.31 orphanet , disgenet
Monomelic amyotrophy CPLANE1 disease C1865384 Biomarker 0.31 orphanet , disgenet
Monomelic amyotrophy SMN2 disease C1865384 GeneticVariation 0.02 disgenet
Monomelic amyotrophy SMN1 disease C1865384 Biomarker 0.02 disgenet
Monomelic amyotrophy SMN1 disease C1865384 GeneticVariation 0.02 disgenet
Monomelic amyotrophy SMN2 disease C1865384 Biomarker 0.02 disgenet
Monomelic amyotrophy STMN1 disease C1865384 GeneticVariation 0.01 disgenet
Monomelic amyotrophy SNURF disease C1865384 GeneticVariation 0.01 disgenet
Monomelic amyotrophy GARS1 disease C1865384 Biomarker 0.01 disgenet
Monomelic amyotrophy UCN disease C1865384 GeneticVariation 0.01 disgenet
Monomelic amyotrophy CCL5 disease C1865384 AlteredExpression 0.01 disgenet
Monomelic amyotrophy DNAJB2 disease C1865384 GeneticVariation 0.01 disgenet
Monomelic amyotrophy CCL11 disease C1865384 AlteredExpression 0.01 disgenet
Monomelic amyotrophy AIFM1 disease C1865384 GeneticVariation 0.01 disgenet
Monomelic amyotrophy SNRPN disease C1865384 GeneticVariation 0.01 disgenet
Monomelic amyotrophy CCL2 disease C1865384 AlteredExpression 0.01 disgenet
Monomelic amyotrophy SOD1 disease C1865384 GeneticVariation 0.01 disgenet
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