Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Schwannomatosis SMARCB1 disease C1335929 GeneticVariation 0.8 orphanet , disgenet
Schwannomatosis SMARCB1 disease C1335929 Biomarker 0.8 orphanet , disgenet
Schwannomatosis SMARCB1 disease C1335929 GermlineCausalMutation 0.8 orphanet , disgenet
Schwannomatosis SMARCB1 disease C1335929 CausalMutation 0.8 orphanet , disgenet
Schwannomatosis SMARCB1 disease C1335929 AlteredExpression 0.8 orphanet , disgenet
Schwannomatosis LZTR1 disease C1335929 GeneticVariation 0.6 orphanet , disgenet
Schwannomatosis LZTR1 disease C1335929 Biomarker 0.6 orphanet , disgenet
Schwannomatosis LZTR1 disease C1335929 SusceptibilityMutation 0.6 orphanet , disgenet
Schwannomatosis NF2 disease C1335929 AlteredExpression 0.58 orphanet , disgenet
Schwannomatosis NF2 disease C1335929 PosttranslationalModification 0.58 orphanet , disgenet
Schwannomatosis NF2 disease C1335929 Biomarker 0.58 orphanet , disgenet
Schwannomatosis NF2 disease C1335929 GeneticVariation 0.58 orphanet , disgenet
Schwannomatosis COQ6 disease C1335929 GeneticVariation 0.31 orphanet , disgenet
Schwannomatosis COQ6 disease C1335929 SusceptibilityMutation 0.31 orphanet , disgenet
Schwannomatosis NFIC disease C1335929 Biomarker 0.01 disgenet
Schwannomatosis SMARCE1 disease C1335929 Biomarker 0.01 disgenet
Schwannomatosis TP53 disease C1335929 GeneticVariation 0.01 disgenet
Schwannomatosis IKBKG disease C1335929 AlteredExpression 0.01 disgenet
Schwannomatosis SMARCA1 disease C1335929 Biomarker 0.01 disgenet
Schwannomatosis CABIN1 disease C1335929 GeneticVariation 0.01 disgenet
Schwannomatosis ESCO1 disease C1335929 Biomarker 0.01 disgenet
Schwannomatosis MED16 disease C1335929 Biomarker 0.01 disgenet
Schwannomatosis PRKAR1A disease C1335929 Biomarker 0.01 disgenet
Schwannomatosis NFIX disease C1335929 Biomarker 0.01 disgenet
Schwannomatosis DGCR8 disease C1335929 Biomarker 0.01 disgenet
Schwannomatosis NFIA disease C1335929 Biomarker 0.01 disgenet
Schwannomatosis NFIB disease C1335929 Biomarker 0.01 disgenet
Schwannomatosis ETV5 disease C1335929 Biomarker 0.01 disgenet
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