Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Hyperexplexia hereditary GLRB disease C1835614 GeneticVariation 0.51 disgenet
Hyperexplexia hereditary GLRB disease C1835614 Biomarker 0.51 disgenet
Hyperexplexia hereditary SLC6A5 disease C1835614 Biomarker 0.5 disgenet
Hyperexplexia hereditary GLRA1 disease C1835614 GeneticVariation 0.37 disgenet
Hyperexplexia hereditary GLRA1 disease C1835614 Biomarker 0.37 disgenet
Hyperexplexia hereditary GPHN disease C1835614 Biomarker 0.3 disgenet
Hyperexplexia hereditary ATAD1 disease C1835614 GermlineCausalMutation 0.3 disgenet
Hyperexplexia hereditary CSF1R disease C1835614 GeneticVariation 0.01 disgenet
Hyperexplexia hereditary PRNP disease C1835614 GeneticVariation 0.01 disgenet
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