Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Hyperekplexia GLRA1 phenotype C0234166 GeneticVariation 0.7 disgenet
Hyperekplexia GLRA1 phenotype C0234166 Biomarker 0.7 disgenet
Hyperekplexia GLRA1 phenotype C0234166 CausalMutation 0.7 disgenet
Hyperekplexia SLC6A5 phenotype C0234166 Biomarker 0.2 disgenet
Hyperekplexia SLC6A5 phenotype C0234166 GeneticVariation 0.2 disgenet
Hyperekplexia SLC6A5 phenotype C0234166 CausalMutation 0.2 disgenet
Hyperekplexia GLRB phenotype C0234166 AlteredExpression 0.15 disgenet
Hyperekplexia GLRB phenotype C0234166 GeneticVariation 0.15 disgenet
Hyperekplexia GLRB phenotype C0234166 CausalMutation 0.15 disgenet
Hyperekplexia GLRB phenotype C0234166 Biomarker 0.15 disgenet
Hyperekplexia CTSD phenotype C0234166 GeneticVariation 0.1 disgenet
Hyperekplexia GGTA1P phenotype C0234166 GeneticVariation 0.08 disgenet
Hyperekplexia GGTA1P phenotype C0234166 Biomarker 0.08 disgenet
Hyperekplexia GARS1 phenotype C0234166 Biomarker 0.04 disgenet
Hyperekplexia GARS1 phenotype C0234166 GeneticVariation 0.04 disgenet
Hyperekplexia ARHGEF9 phenotype C0234166 GeneticVariation 0.02 disgenet
Hyperekplexia ARHGEF9 phenotype C0234166 Biomarker 0.02 disgenet
Hyperekplexia GPHN phenotype C0234166 Biomarker 0.02 disgenet
Hyperekplexia EPHA3 phenotype C0234166 GeneticVariation 0.01 disgenet
Hyperekplexia SLC7A10 phenotype C0234166 Biomarker 0.01 disgenet
Hyperekplexia SCN8A phenotype C0234166 Biomarker 0.01 disgenet
Hyperekplexia CTNNB1 phenotype C0234166 Biomarker 0.01 disgenet
Hyperekplexia BRAF phenotype C0234166 GeneticVariation 0.01 disgenet
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