Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1838049
Disease: Epilepsy, Nocturnal Frontal Lobe, Type 1
Epilepsy, Nocturnal Frontal Lobe, Type 1 		0.700 Biomarker disease GENOMICS_ENGLAND A Korean kindred with autosomal dominant nocturnal frontal lobe epilepsy and mental retardation. 14623738 2003
CUI: C1838049
Disease: Epilepsy, Nocturnal Frontal Lobe, Type 1
Epilepsy, Nocturnal Frontal Lobe, Type 1 		0.700 Biomarker disease GENOMICS_ENGLAND A Korean kindred with autosomal dominant nocturnal frontal lobe epilepsy and mental retardation. 14623738 2003
CUI: C1838049
Disease: Epilepsy, Nocturnal Frontal Lobe, Type 1
Epilepsy, Nocturnal Frontal Lobe, Type 1 		0.700 GeneticVariation disease UNIPROT A Korean kindred with autosomal dominant nocturnal frontal lobe epilepsy and mental retardation. 14623738 2003
CUI: C1838049
Disease: Epilepsy, Nocturnal Frontal Lobe, Type 1
Epilepsy, Nocturnal Frontal Lobe, Type 1 		0.700 GeneticVariation disease UNIPROT A novel mutation of CHRNA4 responsible for autosomal dominant nocturnal frontal lobe epilepsy. 10563623 1999
CUI: C1838049
Disease: Epilepsy, Nocturnal Frontal Lobe, Type 1
Epilepsy, Nocturnal Frontal Lobe, Type 1 		0.700 Biomarker disease GENOMICS_ENGLAND Localization of a gene for autosomal dominant nocturnal frontal lobe epilepsy to chromosome 20q 13.2. 7647781 1995
CUI: C1838049
Disease: Epilepsy, Nocturnal Frontal Lobe, Type 1
Epilepsy, Nocturnal Frontal Lobe, Type 1 		0.700 GeneticVariation disease UNIPROT A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy. 7550350 1995
CUI: C1838049
Disease: Epilepsy, Nocturnal Frontal Lobe, Type 1
Epilepsy, Nocturnal Frontal Lobe, Type 1 		0.700 Biomarker disease CTD_human
CUI: C1861063
Disease: TOBACCO ADDICTION, SUSCEPTIBILITY TO (finding)
TOBACCO ADDICTION, SUSCEPTIBILITY TO (finding) 		0.500 Biomarker phenotype GENOMICS_ENGLAND A Korean kindred with autosomal dominant nocturnal frontal lobe epilepsy and mental retardation. 14623738 2003
CUI: C3696898
Disease: Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 		0.500 GermlineCausalMutation disease ORPHANET A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy. 7550350 1995
CUI: C1861063
Disease: TOBACCO ADDICTION, SUSCEPTIBILITY TO (finding)
TOBACCO ADDICTION, SUSCEPTIBILITY TO (finding) 		0.500 Biomarker phenotype CTD_human
CUI: C0036572
Disease: Seizures
Seizures 		0.440 Biomarker phenotype CTD_human Novel seizure phenotype and sleep disruptions in knock-in mice with hypersensitive alpha 4* nicotinic receptors. 16339034 2005
CUI: C0036572
Disease: Seizures
Seizures 		0.440 Biomarker phenotype CTD_human Genetic and pharmacological strategies identify a behavioral function of neuronal nicotinic receptors. 10942032 2000
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal 		0.420 Biomarker phenotype CTD_human Novel seizure phenotype and sleep disruptions in knock-in mice with hypersensitive alpha 4* nicotinic receptors. 16339034 2005
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal 		0.420 Biomarker phenotype CTD_human Genetic and pharmacological strategies identify a behavioral function of neuronal nicotinic receptors. 10942032 2000
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.400 Biomarker disease PSYGENET The present study suggests that the α(4)β(2) nAChR agonists may be better suited to control the epigenetic alterations of GABAergic neurons in schizophrenia than the α(7) nAChR agonists. 21368748 2011
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.400 Biomarker disease PSYGENET Expression of the α7*nAChR mRNA and protein are reduced in multiple regions of post-mortem brain from patients diagnosed with schizophrenia. 21979958 2011
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.400 Biomarker disease PSYGENET α7 nicotinic receptor agonism mitigates phencyclidine-induced changes in synaptophysin and Arc gene expression in the mouse prefrontal cortex. 20817066 2010
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.400 Biomarker disease PSYGENET Together, these results suggest that the molecular mechanism of the association between NRG1 risk alleles and schizophrenia may include down-regulation of nAChR alpha7 expression. 17884806 2007
CUI: C0085541
Disease: Epilepsy, Frontal Lobe
Epilepsy, Frontal Lobe 		0.400 Biomarker disease CTD_human Nicotine-induced dystonic arousal complex in a mouse line harboring a human autosomal-dominant nocturnal frontal lobe epilepsy mutation. 17881519 2007
CUI: C0085541
Disease: Epilepsy, Frontal Lobe
Epilepsy, Frontal Lobe 		0.400 Biomarker disease CTD_human Mice lacking neuronal nicotinic acetylcholine receptor beta4-subunit and mice lacking both alpha5- and beta4-subunits are highly resistant to nicotine-induced seizures. 14996991 2004
CUI: C0085541
Disease: Epilepsy, Frontal Lobe
Epilepsy, Frontal Lobe 		0.400 Biomarker disease CTD_human A new Chrna4 mutation with low penetrance in nocturnal frontal lobe epilepsy. 12823585 2003
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		0.370 Biomarker disease CTD_human Efficacy and safety of the novel α₄β₂ neuronal nicotinic receptor partial agonist ABT-089 in adults with attention-deficit/hyperactivity disorder: a randomized, double-blind, placebo-controlled crossover study. 21748252 2012
CUI: C0011570
Disease: Mental Depression
Mental Depression 		0.340 Biomarker disease PSYGENET We identified a significant epistasis effect BCL1 by CHRNA4 showing that carriers of the CC genotype at the BCL1 locus who were also homozygous for the T allele at the CHRNA4 locus had the highest depression scores. 22760121 2012
CUI: C0011570
Disease: Mental Depression
Mental Depression 		0.340 Biomarker disease PSYGENET Study findings identified a significant link between the CHRNA4:rs1044396 polymorphism and depression and loneliness in the aged. 22008229 2012
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.340 Biomarker disease PSYGENET We identified a significant epistasis effect BCL1 by CHRNA4 showing that carriers of the CC genotype at the BCL1 locus who were also homozygous for the T allele at the CHRNA4 locus had the highest depression scores. 22760121 2012