Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Potassium aggravated myotonia SCN4A disease C2931826 GermlineCausalMutation 0.79 orphanet , disgenet
Potassium aggravated myotonia SCN4A disease C2931826 CausalMutation 0.79 orphanet , disgenet
Potassium aggravated myotonia SCN4A disease C2931826 GeneticVariation 0.79 orphanet , disgenet
Potassium aggravated myotonia SCN4A disease C2931826 Biomarker 0.79 orphanet , disgenet
Potassium aggravated myotonia SLC34A2 disease C2931826 GeneticVariation 0.09 disgenet
Potassium aggravated myotonia PIK3CD disease C2931826 Biomarker 0.02 disgenet
Potassium aggravated myotonia CLCN1 disease C2931826 GeneticVariation 0.02 disgenet
Potassium aggravated myotonia PIK3CB disease C2931826 Biomarker 0.02 disgenet
Potassium aggravated myotonia PIK3CG disease C2931826 Biomarker 0.02 disgenet
Potassium aggravated myotonia PIK3CA disease C2931826 Biomarker 0.02 disgenet
Potassium aggravated myotonia CTNNB1 disease C2931826 AlteredExpression 0.01 disgenet
Potassium aggravated myotonia IRF1 disease C2931826 GeneticVariation 0.01 disgenet
Potassium aggravated myotonia PDP1 disease C2931826 Biomarker 0.01 disgenet
Potassium aggravated myotonia SLC35A1 disease C2931826 Biomarker 0.01 disgenet
Potassium aggravated myotonia GRM5 disease C2931826 GeneticVariation 0.01 disgenet
Potassium aggravated myotonia CYP51A1 disease C2931826 Biomarker 0.01 disgenet
Potassium aggravated myotonia CST12P disease C2931826 Biomarker 0.01 disgenet
Potassium aggravated myotonia CXCR4 disease C2931826 Biomarker 0.01 disgenet
Potassium aggravated myotonia EBI3 disease C2931826 GeneticVariation 0.01 disgenet
Potassium aggravated myotonia GAL3ST1 disease C2931826 Biomarker 0.01 disgenet
Potassium aggravated myotonia ASS1 disease C2931826 AlteredExpression 0.01 disgenet
Potassium aggravated myotonia LOC110806263 disease C2931826 GeneticVariation 0.01 disgenet
Potassium aggravated myotonia PAM disease C2931826 Biomarker 0.01 disgenet
Potassium aggravated myotonia KIT disease C2931826 Biomarker 0.01 disgenet
Potassium aggravated myotonia FGF23 disease C2931826 AlteredExpression 0.01 disgenet
Potassium aggravated myotonia IFNG disease C2931826 AlteredExpression 0.01 disgenet
Potassium aggravated myotonia CASZ1 disease C2931826 Biomarker 0.01 disgenet
Potassium aggravated myotonia IL18R1 disease C2931826 GeneticVariation 0.01 disgenet
Potassium aggravated myotonia CCR10 disease C2931826 GeneticVariation 0.01 disgenet
Potassium aggravated myotonia CRTAM disease C2931826 AlteredExpression 0.01 disgenet
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