Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1854335
Disease: Epilepsy, Nocturnal Frontal Lobe, Type 3
Epilepsy, Nocturnal Frontal Lobe, Type 3 		0.900 Biomarker disease MGD Altered activity-rest patterns in mice with a human autosomal-dominant nocturnal frontal lobe epilepsy mutation in the β2 nicotinic receptor. 20603624 2011
CUI: C1854335
Disease: Epilepsy, Nocturnal Frontal Lobe, Type 3
Epilepsy, Nocturnal Frontal Lobe, Type 3 		0.900 Biomarker disease GENOMICS_ENGLAND CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy. 11104662 2001
CUI: C1854335
Disease: Epilepsy, Nocturnal Frontal Lobe, Type 3
Epilepsy, Nocturnal Frontal Lobe, Type 3 		0.900 GeneticVariation disease UNIPROT CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy. 11104662 2001
CUI: C1854335
Disease: Epilepsy, Nocturnal Frontal Lobe, Type 3
Epilepsy, Nocturnal Frontal Lobe, Type 3 		0.900 Biomarker disease GENOMICS_ENGLAND A new locus for autosomal dominant nocturnal frontal lobe epilepsy maps to chromosome 1. 11094099 2000
CUI: C1854335
Disease: Epilepsy, Nocturnal Frontal Lobe, Type 3
Epilepsy, Nocturnal Frontal Lobe, Type 3 		0.900 GeneticVariation disease UNIPROT The nicotinic receptor beta 2 subunit is mutant in nocturnal frontal lobe epilepsy. 11062464 2000
CUI: C1854335
Disease: Epilepsy, Nocturnal Frontal Lobe, Type 3
Epilepsy, Nocturnal Frontal Lobe, Type 3 		0.900 Biomarker disease GENOMICS_ENGLAND The nicotinic receptor beta 2 subunit is mutant in nocturnal frontal lobe epilepsy. 11062464 2000
CUI: C1854335
Disease: Epilepsy, Nocturnal Frontal Lobe, Type 3
Epilepsy, Nocturnal Frontal Lobe, Type 3 		0.900 Biomarker disease CTD_human
CUI: C1854335
Disease: Epilepsy, Nocturnal Frontal Lobe, Type 3
Epilepsy, Nocturnal Frontal Lobe, Type 3 		0.900 CausalMutation disease CLINVAR
CUI: C1854335
Disease: Epilepsy, Nocturnal Frontal Lobe, Type 3
Epilepsy, Nocturnal Frontal Lobe, Type 3 		0.900 GeneticVariation disease CLINVAR
CUI: C3696898
Disease: Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 		0.500 GeneticVariation disease BEFREE To investigate this issue of phenotypic heterogeneity, we prospectively carried out a high-resolution 3-T magnetic resonance imaging (MRI) study in an ADNFLE family containing 10 affected members including one pharmacoresistant patient and carrying the V287L mutation of the CHRN beta2 subunit (CHRNB2). 22897520 2013
CUI: C0041671
Disease: Attention Deficit Disorder
Attention Deficit Disorder 		0.500 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: C3696898
Disease: Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 		0.500 GeneticVariation disease BEFREE A case of autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) coexisting with pervasive developmental disorder harboring SCN1A mutation in addition to CHRNB2 mutation. 23032131 2012
CUI: C3696898
Disease: Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 		0.500 GeneticVariation disease BEFREE Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is a rare familial seizure disorder caused by mutations in at least two different subunit genes of the neuronal nicotinic acetylcholine receptor (nAChR), CHRNA4 and CHRNB2. 22036597 2012
CUI: C3696898
Disease: Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 		0.500 GeneticVariation disease BEFREE Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is partly caused by mutations in the nicotinic acetylcholine receptor (nAChR) genes CHRNA4, CHRNB2, and CHRNA2. 21497487 2011
CUI: C3696898
Disease: Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 		0.500 GeneticVariation disease BEFREE Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) can be caused by mutations in the neuronal nicotinic acetylcholine receptor (nAChR) subunit genes CHRNA4 and CHRNB2. 19383498 2009
CUI: C3696898
Disease: Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 		0.500 GeneticVariation disease BEFREE In order to assess the genetic defects in NFLE, we performed a mutation screening in 33 unrelated patients with sporadic NFLE by amplifying and sequencing bidirectionally TM 1-3 of CHRNA4, CHRNB2 and CHRNA2 which contain the mutations reported in ADNFLE. 19058950 2009
CUI: C0041671
Disease: Attention Deficit Disorder
Attention Deficit Disorder 		0.500 Biomarker disease MGD Retinal waves in mice lacking the beta2 subunit of the nicotinic acetylcholine receptor. 18757739 2008
CUI: C3696898
Disease: Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 		0.500 GeneticVariation disease BEFREE Autosomal dominant nocturnal frontal lobe epilepsy and mild memory impairment associated with CHRNB2 mutation I312M in the neuronal nicotinic acetylcholine receptor. 18534914 2008
CUI: C3696898
Disease: Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 		0.500 GeneticVariation disease BEFREE Mutation analysis of the CHRNB2 gene revealed a c.859G>A transition (Val287Met) within the second transmembrane domain, identical to that previously described in a Scottish ADNFLE family. 17900292 2008
CUI: C3696898
Disease: Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 		0.500 Biomarker disease BEFREE Certain mutations in specific parts of the neuronal nicotinic acetylcholine receptor (nAChR) subunit genes CHRNA4, CHRNB2, and probably CHRNA2, can cause autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE). 18456869 2008
CUI: C3696898
Disease: Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 		0.500 GeneticVariation disease BEFREE Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is known to be caused by mutations in the transmembrane regions of the neuronal nicotinic acetylcholine receptor (nAChR) genes CHRNA4 and CHRNB2. 17602836 2007
CUI: C3696898
Disease: Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 		0.500 Biomarker disease BEFREE Although over hundred families are on record, only a minority of them have been linked to mutations in the genes coding for the alpha4, alpha2 and beta2 (CHRNA4, CHRNA2, and CHRNB2) subunits of the nAChRs, indicating that ADNFLE is genetically heterogeneous despite a relatively homogeneous clinical picture. 17662253 2007
CUI: C0041671
Disease: Attention Deficit Disorder
Attention Deficit Disorder 		0.500 Biomarker disease MGD Control of breathing in newborn mice lacking the beta-2 nAChR subunit. 15450117 2004
CUI: C3696898
Disease: Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 		0.500 GeneticVariation disease BEFREE Mutations responsible for autosomal dominant nocturnal frontal lobe epilepsy have been identified in two members of the neuronal nicotinic acetylcholine receptor gene family: CHRNA4(ENFL1 locus) and CHRNB2 (ENFL3 locus) coding for alpha4 and beta2 subunit, respectively. 15245761 2004
CUI: C0041671
Disease: Attention Deficit Disorder
Attention Deficit Disorder 		0.500 Biomarker disease MGD Executive and social behaviors under nicotinic receptor regulation. 12876201 2003