Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy CHRNB2 disease C3696898 GeneticVariation 0.5 orphanet , disgenet
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy CHRNA4 disease C3696898 AlteredExpression 0.5 orphanet , disgenet
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy CHRNA4 disease C3696898 GeneticVariation 0.5 orphanet , disgenet
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy CHRNA4 disease C3696898 CausalMutation 0.5 orphanet , disgenet
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy CHRNB2 disease C3696898 GermlineCausalMutation 0.5 orphanet , disgenet
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy CHRNB2 disease C3696898 CausalMutation 0.5 orphanet , disgenet
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy CHRNA4 disease C3696898 GermlineCausalMutation 0.5 orphanet , disgenet
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy CHRNB2 disease C3696898 Biomarker 0.5 orphanet , disgenet
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy CHRNA4 disease C3696898 Biomarker 0.5 orphanet , disgenet
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy CHRNA2 disease C3696898 GermlineCausalMutation 0.48 orphanet , disgenet
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy CHRNA2 disease C3696898 GeneticVariation 0.48 orphanet , disgenet
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy CHRNA2 disease C3696898 Biomarker 0.48 orphanet , disgenet
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy CHRNA2 disease C3696898 CausalMutation 0.48 orphanet , disgenet
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy KCNT1 disease C3696898 GeneticVariation 0.35 orphanet , disgenet
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy KCNT1 disease C3696898 Biomarker 0.35 orphanet , disgenet
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy KCNT1 disease C3696898 GermlineCausalMutation 0.35 orphanet , disgenet
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy CRH disease C3696898 GermlineCausalMutation 0.33 orphanet , disgenet
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy CRH disease C3696898 GeneticVariation 0.33 orphanet , disgenet
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy DEPDC5 disease C3696898 GermlineCausalMutation 0.31 orphanet , disgenet
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy DEPDC5 disease C3696898 GeneticVariation 0.31 orphanet , disgenet
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy CABP4 disease C3696898 GermlineCausalMutation 0.3 orphanet , disgenet
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy ENFL2 disease C3696898 Biomarker 0.04 disgenet
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy ENFL2 disease C3696898 GeneticVariation 0.04 disgenet
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy IGBP1 disease C3696898 GeneticVariation 0.03 disgenet
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy FGFR3 disease C3696898 GeneticVariation 0.02 disgenet
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy FGFR3 disease C3696898 Biomarker 0.02 disgenet
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy KCNQ3 disease C3696898 Biomarker 0.01 disgenet
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy KCNQ2 disease C3696898 Biomarker 0.01 disgenet
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy SCN1A disease C3696898 GeneticVariation 0.01 disgenet
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy CHRNA7 disease C3696898 GeneticVariation 0.01 disgenet
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy CHRNA5 disease C3696898 Biomarker 0.01 disgenet
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy CHRFAM7A disease C3696898 AlteredExpression 0.01 disgenet
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy CHRNA3 disease C3696898 Biomarker 0.01 disgenet
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