Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0743002
Disease: Abnormal Deep Tendon Reflex
Abnormal Deep Tendon Reflex 		0.300 Therapeutic phenotype CTD_human The β2 nicotinic acetylcholine receptor subunit differentially influences ethanol behavioral effects in the mouse. 23419392 2013
CUI: C0234146
Disease: Absent reflex
Absent reflex 		0.300 Therapeutic phenotype CTD_human The β2 nicotinic acetylcholine receptor subunit differentially influences ethanol behavioral effects in the mouse. 23419392 2013
CUI: C0546126
Disease: Acute Confusional Senile Dementia
Acute Confusional Senile Dementia 		0.300 Biomarker disease CTD_human Systematic meta-analyses of Alzheimer disease genetic association studies: the AlzGene database. 17192785 2007
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset 		0.300 Biomarker disease CTD_human Systematic meta-analyses of Alzheimer disease genetic association studies: the AlzGene database. 17192785 2007
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.300 Biomarker disease CTD_human Systematic meta-analyses of Alzheimer disease genetic association studies: the AlzGene database. 17192785 2007
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.340 AlteredExpression disease LHGDN Changes in nicotinic acetylcholine receptor subunits expression in brain of patients with Down syndrome and Alzheimer's disease. 11771745 2001
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.340 Biomarker disease BEFREE Accordingly, we have analysed polymorphisms in the genes that encode the alpha4 and beta2 subunits, CHRNA4 and CHRNB2 respectively, for genetic associations with late-onset AD. 15026168 2004
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.340 Biomarker disease BEFREE In addition to identifying the epsilon4 allele of APOE and related effects, we pinpointed over a dozen potential Alzheimer disease susceptibility genes (ACE, CHRNB2, CST3, ESR1, GAPDHS, IDE, MTHFR, NCSTN, PRNP, PSEN1, TF, TFAM and TNF) with statistically significant allelic summary odds ratios (ranging from 1.11-1.38 for risk alleles and 0.92-0.67 for protective alleles). 17192785 2007
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.340 Biomarker disease BEFREE A search for mutations of the genes coding for the most widely distributed nicotinic receptor subtype alpha4beta2 (CHRNA4/CHRNB2) has been performed in AD patients by screening the coding regions of both genes by single strand conformation analysis and heteroduplex analysis of fibroblast-derived genomic DNA. 10549797 1999
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.340 Biomarker disease CTD_human Systematic meta-analyses of Alzheimer disease genetic association studies: the AlzGene database. 17192785 2007
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.340 GeneticVariation disease LHGDN Accordingly, we have analysed polymorphisms in the genes that encode the alpha4 and beta2 subunits, CHRNA4 and CHRNB2 respectively, for genetic associations with late-onset AD. 15026168 2004
CUI: C0750900
Disease: Alzheimer's Disease, Focal Onset
Alzheimer's Disease, Focal Onset 		0.300 Biomarker disease CTD_human Systematic meta-analyses of Alzheimer disease genetic association studies: the AlzGene database. 17192785 2007
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders 		0.300 Biomarker group CTD_human The β2 nicotinic acetylcholine receptor subunit differentially influences ethanol behavioral effects in the mouse. 23419392 2013
CUI: C1279420
Disease: Anxiety neurosis (finding)
Anxiety neurosis (finding) 		0.300 Biomarker disease CTD_human The β2 nicotinic acetylcholine receptor subunit differentially influences ethanol behavioral effects in the mouse. 23419392 2013
CUI: C0376280
Disease: Anxiety States, Neurotic
Anxiety States, Neurotic 		0.300 Biomarker disease CTD_human The β2 nicotinic acetylcholine receptor subunit differentially influences ethanol behavioral effects in the mouse. 23419392 2013
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: 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: C0041671
Disease: Attention Deficit Disorder
Attention Deficit Disorder 		0.500 Biomarker disease MGD Executive and social behaviors under nicotinic receptor regulation. 12876201 2003
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: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		0.300 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: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.200 Biomarker disease MGD
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		0.010 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: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.310 AlteredExpression disease LHGDN Molecular analysis of nicotinic receptor expression in autism. 15046869 2004
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.310 Biomarker disease CTD_human Molecular analysis of nicotinic receptor expression in autism. 15046869 2004
CUI: C3696898
Disease: Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 		0.500 Biomarker disease BEFREE CHRNB2 is a new gene for idiopathic epilepsy, the second acetylcholine receptor subunit implicated in ADNFLE. 11104662 2001