Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3151523
Disease: Abnormal cervical curvature
Abnormal cervical curvature 		0.100 Biomarker phenotype HPO
CUI: C4073190
Disease: Abnormality of masticatory muscle
Abnormality of masticatory muscle 		0.100 Biomarker phenotype HPO
CUI: C0001883
Disease: Airway Obstruction
Airway Obstruction 		0.010 GeneticVariation group BEFREE Our findings suggest that rs1051730 in CHRNA is a susceptibility variant for COPD, in terms of both airway obstruction and parenchyma destruction. 22176972 2011
CUI: C0085623
Disease: Akinesia
Akinesia 		0.100 Biomarker disease HPO
CUI: C2228039
Disease: Ankle weakness
Ankle weakness 		0.100 Biomarker phenotype HPO
CUI: C0432185
Disease: Aplasia of muscle
Aplasia of muscle 		0.100 Biomarker disease HPO
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.100 Biomarker disease HPO
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.100 CausalMutation disease CLINVAR
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.100 Biomarker disease HPO
CUI: C4082299
Disease: Bulbar palsy
Bulbar palsy 		0.100 Biomarker disease HPO
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.100 Biomarker disease HPO
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: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		0.020 GeneticVariation disease BEFREE Herein, we performed a meta-analysis to clarify the impact of CHRNA variants on COPD. 22176972 2011
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		0.020 GeneticVariation disease BEFREE The rs6495309C > T polymorphism in the promoter of nicotinic acetylcholine receptor alpha subunit 3 (CHRNA3) gene was investigated in a case-control study that consisted of 406 patients with COPD and 394 healthy control subjects. 23255854 2012
CUI: C1623038
Disease: Cirrhosis
Cirrhosis 		0.300 Biomarker disease CTD_human A novel signaling pathway: fibroblast nicotinic receptor alpha1 binds urokinase and promotes renal fibrosis. 19690163 2009
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.100 Biomarker disease HPO
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		0.100 Biomarker disease HPO
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		0.100 Biomarker disease HPO
CUI: C0265783
Disease: Congenital hypoplasia of lung
Congenital hypoplasia of lung 		0.100 Biomarker disease HPO
CUI: C0010520
Disease: Cyanosis
Cyanosis 		0.100 Biomarker phenotype HPO
CUI: C1853952
Disease: Decreased miniature endplate potentials
Decreased miniature endplate potentials 		0.100 Biomarker phenotype HPO