Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Neuropathy ataxia and retinitis pigmentosa ATP6 disease C1328349 GeneticVariation 0.7 disgenet
Neuropathy ataxia and retinitis pigmentosa ATP6 disease C1328349 CausalMutation 0.7 disgenet
Neuropathy ataxia and retinitis pigmentosa ATP6 disease C1328349 Biomarker 0.7 disgenet
Neuropathy ataxia and retinitis pigmentosa NPTX2 disease C1328349 GeneticVariation 0.06 disgenet
Neuropathy ataxia and retinitis pigmentosa NPTX2 disease C1328349 Biomarker 0.06 disgenet
Neuropathy ataxia and retinitis pigmentosa MFN2 disease C1328349 GeneticVariation 0.01 disgenet
Neuropathy ataxia and retinitis pigmentosa ATP11A disease C1328349 GeneticVariation 0.01 disgenet
Neuropathy ataxia and retinitis pigmentosa ATP8 disease C1328349 GeneticVariation 0.01 disgenet
Neuropathy ataxia and retinitis pigmentosa KIF1B disease C1328349 GeneticVariation 0.01 disgenet
Neuropathy ataxia and retinitis pigmentosa ATM disease C1328349 AlteredExpression 0.01 disgenet
Neuropathy ataxia and retinitis pigmentosa MT-ATP6 NA C1328349 NA NA orphanet
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