Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		0.080 GeneticVariation disease BEFREE A human congenital myasthenia-causing mutation (epsilon L78P) of the muscle nicotinic acetylcholine receptor with unusual single channel properties. 15731194 2005
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		0.080 GeneticVariation disease BEFREE However, mutations in lipoprotein-like receptor 4, a long-time candidate gene for congenital myasthenia, have now been described and a new pathogenic splicing mutation in the nonfunctional exon of CHRNA1 has been reported. 25159927 2014
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		0.080 GeneticVariation disease BEFREE Tannic acid facilitates expression of the polypyrimidine tract binding protein and alleviates deleterious inclusion of CHRNA1 exon P3A due to an hnRNP H-disrupting mutation in congenital myasthenic syndrome. 19147685 2009
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		0.080 GeneticVariation disease BEFREE hnRNP H enhances skipping of a nonfunctional exon P3A in CHRNA1 and a mutation disrupting its binding causes congenital myasthenic syndrome. 18806275 2008
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		0.080 GeneticVariation disease BEFREE Here, we report on a CHRNA1 mutation (α1Leu251Arg) in a patient with congenital myasthenic syndrome associated with transformation of the muscle acetylcholine receptor (AChR) into an inhibitory channel. 31570625 2019
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		0.080 AlteredExpression disease BEFREE Antisense oligonucleotide-mediated exon skipping of CHRNA1 pre-mRNA as potential therapy for Congenital Myasthenic Syndromes. 25888793 2015
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		0.080 GeneticVariation disease BEFREE Congenital myasthenic syndrome in Japan: ethnically unique mutations in muscle nicotinic acetylcholine receptor subunits. 25264167 2015
CUI: C0026896
Disease: Myasthenia Gravis
Myasthenia Gravis 		0.070 GeneticVariation disease BEFREE HLA-linked loci and the HB*14 micro-satellite marker located within the CHRNA gene which encodes the muscular acetylcholine receptor (AChR) alpha-subunit, the target self-antigen, were previously associated with MG. 9237805 1997
CUI: C0026896
Disease: Myasthenia Gravis
Myasthenia Gravis 		0.070 Biomarker disease BEFREE These findings highlight the role of auto-antigen gene (CHRNA1) in the autoimmune reactions against AChR and reveal synergistic contribution of genes of both auto-antigen and immune-regulating proteins (AIRE and CTLA-4) in the pathogenesis of MG. 27501803 2017
CUI: C0026896
Disease: Myasthenia Gravis
Myasthenia Gravis 		0.070 Biomarker disease BEFREE Neoplastic epithelial cells express alpha-subunit of muscle nicotinic acetylcholine receptor in thymomas from patients with myasthenia gravis. 1995332 1991
CUI: C0026896
Disease: Myasthenia Gravis
Myasthenia Gravis 		0.070 GeneticVariation disease BEFREE Specific adsorbents for myasthenia gravis autoantibodies using mutants of the muscle nicotinic acetylcholine receptor extracellular domains. 25595248 2015
CUI: C0026896
Disease: Myasthenia Gravis
Myasthenia Gravis 		0.070 Biomarker disease BEFREE Expression of a highly antigenic and native-like folded extracellular domain of the human α1 subunit of muscle nicotinic acetylcholine receptor, suitable for use in antigen specific therapies for Myasthenia Gravis. 24376846 2013
CUI: C0026896
Disease: Myasthenia Gravis
Myasthenia Gravis 		0.070 Biomarker disease BEFREE Molecular cloning of the canine nicotinic acetylcholine receptor alpha-subunit gene and development of the ELISA method to diagnose myasthenia gravis. 10628675 1999
CUI: C0026896
Disease: Myasthenia Gravis
Myasthenia Gravis 		0.070 GeneticVariation disease BEFREE Our results suggest that the CHRNA1 locus harbours a minor susceptibility gene for developing MG, though we cannot rule out linkage disequilibrium with another major gene locus on chromosome 2. 8738961 1996
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.050 GeneticVariation disease BEFREE Recent genome-wide association studies in Caucasians revealed association with lung cancer risk of single nucleotide polymorphisms (SNPs) in the locus containing two nicotine acetylcholine receptor CHRNA genes. 20234319 2010
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.050 GeneticVariation disease BEFREE Recent genome wide association (GWA) studies on European and American populations revealed association with lung cancer risk of single-nucleotide polymorphisms (SNPs) in the locus containing two nicotine acetylcholine receptor (CHRNA) genes, whose involvement in tobacco addiction had been indicated. 19005185 2009
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.050 Biomarker disease BEFREE Our results confirm that this CHRNA region is associated with both lung cancer development and smoking behavior. 23094028 2012
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.050 GeneticVariation disease BEFREE Smokers with the CHRNA lung cancer-associated variants are exposed to higher levels of nicotine equivalents and a carcinogenic tobacco-specific nitrosamine. 19010884 2008
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.050 GeneticVariation disease BEFREE Seven SNPs in three nAChR genes were significantly associated with lung cancer at a strict Bonferroni-corrected level, including a novel association on chromosome 2 near the promoter of CHRNA1 (rs3755486: OR = 1.40, 95% CI = 1.18-1.67, P = 1.0 x 10-4). 23232035 2012
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.050 GeneticVariation disease BEFREE Recent genome wide association (GWA) studies on European and American populations revealed association with lung cancer risk of single-nucleotide polymorphisms (SNPs) in the locus containing two nicotine acetylcholine receptor (CHRNA) genes, whose involvement in tobacco addiction had been indicated. 19005185 2009
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.050 GeneticVariation disease BEFREE Smokers with the CHRNA lung cancer-associated variants are exposed to higher levels of nicotine equivalents and a carcinogenic tobacco-specific nitrosamine. 19010884 2008
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.050 GeneticVariation disease BEFREE Recent genome-wide association studies in Caucasians revealed association with lung cancer risk of single nucleotide polymorphisms (SNPs) in the locus containing two nicotine acetylcholine receptor CHRNA genes. 20234319 2010
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.050 GeneticVariation disease BEFREE Seven SNPs in three nAChR genes were significantly associated with lung cancer at a strict Bonferroni-corrected level, including a novel association on chromosome 2 near the promoter of CHRNA1 (rs3755486: OR = 1.40, 95% CI = 1.18-1.67, P = 1.0 x 10-4). 23232035 2012
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.050 Biomarker disease BEFREE Our results confirm that this CHRNA region is associated with both lung cancer development and smoking behavior. 23094028 2012
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.050 GeneticVariation disease BEFREE Seven SNPs in three nAChR genes were significantly associated with lung cancer at a strict Bonferroni-corrected level, including a novel association on chromosome 2 near the promoter of CHRNA1 (rs3755486: OR = 1.40, 95% CI = 1.18-1.67, P = 1.0 x 10-4). 23232035 2012