Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1834536
Disease: Weakness of the intrinsic hand muscles
Weakness of the intrinsic hand muscles 		0.100 Biomarker phenotype HPO
CUI: C4024601
Disease: Weakness of long finger extensor muscles
Weakness of long finger extensor muscles 		0.100 Biomarker phenotype HPO
CUI: C0234860
Disease: Weak cry
Weak cry 		0.100 Biomarker phenotype HPO
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		0.100 Biomarker phenotype HPO
CUI: C1864580
Disease: Type 2 muscle fiber atrophy
Type 2 muscle fiber atrophy 		0.100 Biomarker phenotype HPO
CUI: C1854387
Disease: Type 1 muscle fiber predominance
Type 1 muscle fiber predominance 		0.100 Biomarker phenotype HPO
CUI: C2230441
Disease: Triceps weakness
Triceps weakness 		0.100 Biomarker phenotype HPO
CUI: C0040332
Disease: Tobacco Dependence
Tobacco Dependence 		0.010 Biomarker disease BEFREE This study confirmed a significant contribution of the CHRNA receptor on different forms of tobacco dependence. 21748402 2011
CUI: C0040100
Disease: Thymoma
Thymoma 		0.020 Biomarker disease BEFREE Neoplastic epithelial cells express alpha-subunit of muscle nicotinic acetylcholine receptor in thymomas from patients with myasthenia gravis. 1995332 1991
CUI: C0040100
Disease: Thymoma
Thymoma 		0.020 Biomarker disease BEFREE No significant difference was found in the two groups (thymoma MG(+), CHRNA1 = 0.013 +/- 0.03; thymoma MG-, CHRNA1 = 0.01 +/- 0.03). 17590173 2007
CUI: C4015465
Disease: Thoracic kyphoscoliosis
Thoracic kyphoscoliosis 		0.100 Biomarker phenotype HPO
CUI: C0426818
Disease: Thin rib
Thin rib 		0.100 Biomarker phenotype HPO
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.010 Biomarker disease BEFREE Nicotinic Acetylcholine Receptor Subunit Alpha-5 Promotes Radioresistance via Recruiting E2F Activity in Oral Squamous Cell Carcinoma. 31547418 2019
CUI: C3278509
Disease: Spinal fusion
Spinal fusion 		0.100 Biomarker disease HPO
CUI: C2830004
Disease: Somnolence
Somnolence 		0.100 Biomarker phenotype HPO
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		0.100 Biomarker phenotype HPO
CUI: C0427063
Disease: Shoulder girdle weakness
Shoulder girdle weakness 		0.100 Biomarker phenotype HPO
CUI: C0239594
Disease: Short finger
Short finger 		0.100 Biomarker phenotype HPO
CUI: C0036572
Disease: Seizures
Seizures 		0.100 CausalMutation phenotype CLINVAR
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.100 Biomarker disease HPO
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.010 GeneticVariation disease BEFREE The previous reports have shown that CHRNA polymorphisms were involved in schizophrenia. 31342675 2019
CUI: C3277226
Disease: Restrictive ventilatory defect
Restrictive ventilatory defect 		0.100 Biomarker phenotype HPO
CUI: C3806467
Disease: Respiratory insufficiency due to muscle weakness
Respiratory insufficiency due to muscle weakness 		0.100 Biomarker phenotype HPO
CUI: C1145670
Disease: Respiratory Failure
Respiratory Failure 		0.100 Biomarker disease HPO
CUI: C0476408
Disease: Reduced vital capacity
Reduced vital capacity 		0.100 Biomarker phenotype HPO