Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Kohlschutter Tonz syndrome ROGDI disease C0406740 GermlineCausalMutation 0.74 orphanet , disgenet
Kohlschutter Tonz syndrome ROGDI disease C0406740 Biomarker 0.74 orphanet , disgenet
Kohlschutter Tonz syndrome ROGDI disease C0406740 GeneticVariation 0.74 orphanet , disgenet
Kohlschutter Tonz syndrome ROGDI disease C0406740 CausalMutation 0.74 orphanet , disgenet
Kohlschutter Tonz syndrome SLC13A5 disease C0406740 GermlineCausalMutation 0.31 orphanet , disgenet
Kohlschutter Tonz syndrome SLC13A5 disease C0406740 Biomarker 0.31 orphanet , disgenet
Kohlschutter Tonz syndrome ACAD8 disease C0406740 Biomarker 0.01 disgenet
Kohlschutter Tonz syndrome AUH disease C0406740 Biomarker 0.01 disgenet
Kohlschutter Tonz syndrome DHCR7 disease C0406740 GeneticVariation 0.01 disgenet
Kohlschutter Tonz syndrome ACADSB disease C0406740 Biomarker 0.01 disgenet
Kohlschutter Tonz syndrome HSD17B10 disease C0406740 GeneticVariation 0.01 disgenet
Kohlschutter Tonz syndrome FKBP14 disease C0406740 GeneticVariation 0.01 disgenet
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