Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Hypotonia-Cystinuria Syndrome PREPL disease C1848030 ChromosomalRearrangement 0.68 orphanet , disgenet
Hypotonia-Cystinuria Syndrome PREPL disease C1848030 Biomarker 0.68 orphanet , disgenet
Hypotonia-Cystinuria Syndrome PREPL disease C1848030 GeneticVariation 0.68 orphanet , disgenet
Hypotonia-Cystinuria Syndrome SLC3A1 disease C1848030 PosttranslationalModification 0.57 orphanet , disgenet
Hypotonia-Cystinuria Syndrome SLC3A1 disease C1848030 GeneticVariation 0.57 orphanet , disgenet
Hypotonia-Cystinuria Syndrome SLC3A1 disease C1848030 ChromosomalRearrangement 0.57 orphanet , disgenet
Hypotonia-Cystinuria Syndrome SLC3A1 disease C1848030 Biomarker 0.57 orphanet , disgenet
Hypotonia-Cystinuria Syndrome CAMKMT disease C1848030 GeneticVariation 0.52 orphanet , disgenet
Hypotonia-Cystinuria Syndrome CAMKMT disease C1848030 Biomarker 0.52 orphanet , disgenet
Hypotonia-Cystinuria Syndrome PPM1B disease C1848030 GeneticVariation 0.32 disgenet
Hypotonia-Cystinuria Syndrome PPM1B disease C1848030 Biomarker 0.32 disgenet
Hypotonia-Cystinuria Syndrome CYCS disease C1848030 GeneticVariation 0.01 disgenet
Hypotonia-Cystinuria Syndrome HLCS disease C1848030 GeneticVariation 0.01 disgenet
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