Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Kufor-Rakeb syndrome ATP13A2 disease C1847640 GeneticVariation 1 orphanet , disgenet
Kufor-Rakeb syndrome ATP13A2 disease C1847640 CausalMutation 1 orphanet , disgenet
Kufor-Rakeb syndrome ATP13A2 disease C1847640 Biomarker 1 orphanet , disgenet
Kufor-Rakeb syndrome ATP13A2 disease C1847640 AlteredExpression 1 orphanet , disgenet
Kufor-Rakeb syndrome ATP13A2 disease C1847640 GermlineCausalMutation 1 orphanet , disgenet
Kufor-Rakeb syndrome SNCA disease C1847640 AlteredExpression 0.02 disgenet
Kufor-Rakeb syndrome SNCA disease C1847640 Biomarker 0.02 disgenet
Kufor-Rakeb syndrome SLC6A3 disease C1847640 Biomarker 0.01 disgenet
Kufor-Rakeb syndrome LRRK2 disease C1847640 GeneticVariation 0.01 disgenet
Kufor-Rakeb syndrome PANK2 disease C1847640 GeneticVariation 0.01 disgenet
Kufor-Rakeb syndrome FA2H disease C1847640 GeneticVariation 0.01 disgenet
Kufor-Rakeb syndrome PLB1 disease C1847640 GeneticVariation 0.01 disgenet
Kufor-Rakeb syndrome EGLN1 disease C1847640 AlteredExpression 0.01 disgenet
Kufor-Rakeb syndrome PLA2G1B disease C1847640 GeneticVariation 0.01 disgenet
Kufor-Rakeb syndrome KARS1 disease C1847640 GeneticVariation 0.01 disgenet
Kufor-Rakeb syndrome YWHAZ disease C1847640 GeneticVariation 0.01 disgenet
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