AutismKB 2.0

Annotation Detail for CHRNA1


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Basic Information Top
Gene Symbol:CHRNA1 ( ACHRA,ACHRD,CHRNA,CMS2A,FCCMS,SCCMS )
Gene Full Name: cholinergic receptor, nicotinic, alpha 1 (muscle)
Band: 2q31.1
Quick LinksEntrez ID:1134; OMIM: 100690; Uniprot ID:ACHA_HUMAN; ENSEMBL ID: ENSG00000138435; HGNC ID: 1955
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04080Neuroactive ligand-receptor interaction
Pathway IDPathway Name
Synaptic Transmission
Pathway IDPathway Name
200160Effects of Botulinum toxin
200119ErbB2/ErbB3 signaling events
Pathway IDPathway Name
P00044Nicotinic acetylcholine receptor signaling pathway
No data
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1982Myopathy
Desease Name
autoimmune myasthenia gravis
IMMUNE
No data
Desease Name
Multiple pterygium syndrome, lethal type
Myasthenic syndrome, fast-channel congenital
Myasthenic syndrome, slow-channel congenital
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000643 Ammonium Chloride Ammonium Chloride affects the expression of CHRNA1 mRNAaffects expression 16483693
D002038 Bungarotoxins Bungarotoxins binds to CHRNA1 proteinaffects binding 11800594
D002713 Chlorine Chlorine results in increased expression of CHRNA1 mRNAincreases expression 18636392
D002713 Chlorine [Ozone co-treated with Chlorine] results in increased expression of CHRNA1 mRNAaffects cotreatment|increases expression 18636392
D004041 Dietary Fats Dietary Fats results in increased expression of CHRNA1 mRNAincreases expression 18042831
D005419 Flavonoids Flavonoids results in increased expression of CHRNA1 mRNAincreases expression 18035473
D006830 Hydralazine [Hydralazine co-treated with Valproic Acid] results in increased expression of CHRNA1 mRNAaffects cotreatment|increases expression 17183730
D008070 Lipopolysaccharides Lipopolysaccharides results in increased expression of CHRNA1 mRNAincreases expression 12057914
D010126 Ozone [Ozone co-treated with Chlorine] results in increased expression of CHRNA1 mRNAaffects cotreatment|increases expression 18636392
C041786 palm oil palm oil results in increased expression of CHRNA1 mRNAincreases expression 18042831
D013974 Thyroxine Thyroxine results in increased expression of CHRNA1 mRNAincreases expression 17403546
D014635 Valproic Acid [Hydralazine co-treated with Valproic Acid] results in increased expression of CHRNA1 mRNAaffects cotreatment|increases expression 17183730
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Valproic Acid 3.688875741
MESH:D000015 Abnormalities, Multiple Valproic Acid 4.0719490988
MESH:D000138 Acidosis Ammonium Chloride 3.7518287403
MESH:D055371 Acute Lung Injury Chlorine 9.9920601635
MESH:D055371 Acute Lung Injury Lipopolysaccharides 9.9911850527 18653653
MESH:D000544 Alzheimer Disease Ozone 2.4615513908
MESH:D000550 Amblyopia Valproic Acid 5.4517688650
MESH:D001008 Anxiety Disorders Valproic Acid 3.6817497229
MESH:D001161 Arteriosclerosis Dietary Fats 4.0615238619
MESH:D001172 Arthritis, Rheumatoid Ozone 2.5815570426
MESH:D001249 Asthma Ozone 2.6717854713 16373670
MESH:D001321 Autistic Disorder Valproic Acid 1.9918177632 17507914 20603192 17157402 16609825 17688650 18775368 19460635 18558336 19232924 18316065 18396377 18985861 18940202 15238991
MESH:D001714 Bipolar Disorder Valproic Acid 3.1417594078 20046352
MESH:D001848 Bone Diseases, Developmental Valproic Acid 3.498888407
MESH:D001943 Breast Neoplasms Dietary Fats 2.2720435547
MESH:D016535 Bronchial Hyperreactivity Ozone 3.7917626835 15516495 14754758 18315731 18417511 16777450 19059883
MESH:D002100 Cachexia Ozone 4.9316183385
MESH:D006332 Cardiomegaly Thyroxine 4.1718093424
MESH:D002659 Child Development Disorders, Pervasive Valproic Acid 2.7520734317
MESH:D019465 Craniofacial Abnormalities Valproic Acid 1.9017688650 8888407 16575769
MESH:D056486 Drug-Induced Liver Injury Valproic Acid 2.2119641884 1733752
MESH:D050171 Dyslipidemias Dietary Fats 3.5518367378
MESH:D004417 Dyspnea Chlorine 4.8420016425
MESH:D004421 Dystonia Valproic Acid 4.201851702
MESH:D019446 Endotoxemia Lipopolysaccharides 4.5915821434 17637181 15328337
MESH:D004831 Epilepsies, Myoclonic Valproic Acid 4.3317275665 3659116
MESH:D004828 Epilepsies, Partial Valproic Acid 4.133922381 16628512
MESH:D004827 Epilepsy Valproic Acid 3.0020417680 18234410
MESH:D004832 Epilepsy, Absence Valproic Acid 3.716254150 7562514 6426943
MESH:D017029 Epilepsy, Complex Partial Valproic Acid 4.477750514
MESH:D004830 Epilepsy, Tonic-Clonic Valproic Acid 4.263659116
MESH:D005234 Fatty Liver Dietary Fats 8.3719551842 19004024 18296743 17967931
MESH:D005234 Fatty Liver Valproic Acid 8.3719224547 14986274
MESH:D005315 Fetal Diseases Valproic Acid 5.1016575769
MESH:D005317 Fetal Growth Retardation Valproic Acid 4.298888407 18558336
MESH:D005334 Fever Lipopolysaccharides 4.149205823 11852909
MESH:D005355 Fibrosis Dietary Fats 3.7018296743
MESH:D005739 Gas Poisoning Chlorine 5.2320016425
MESH:D006463 Hemolytic-Uremic Syndrome Lipopolysaccharides 4.5216366002
MESH:D006849 Hydrocephalus Valproic Acid 5.0617688650
MESH:D006937 Hypercholesterolemia Dietary Fats 3.7321332399
MESH:D006949 Hyperlipidemias Dietary Fats 3.7621332399
MESH:D046110 Hypertension, Pregnancy-Induced Hydralazine 4.8016612254
MESH:D007249 Inflammation Dietary Fats 8.8520412841
MESH:D007249 Inflammation Flavonoids 8.8517296493
MESH:D007249 Inflammation Lipopolysaccharides 8.8517255318 17237260 17963957 12878042 9205823
MESH:D007333 Insulin Resistance Dietary Fats 3.1918457598 11836018
MESH:D019189 Iron Metabolism Disorders Lipopolysaccharides 4.7817255318
MESH:D015470 Leukemia, Myeloid, Acute Valproic Acid 2.1717596541 16294345
MESH:D007970 Leukopenia Lipopolysaccharides 4.8915821434
MESH:D008103 Liver Cirrhosis Dietary Fats 2.9518296743
MESH:D008106 Liver Cirrhosis, Experimental Lipopolysaccharides 2.2612878042
MESH:D008171 Lung Diseases Ozone 3.4719066396 8266340
MESH:D017563 Lung Diseases, Interstitial Valproic Acid 4.4817228818
MESH:D055370 Lung Injury Lipopolysaccharides 9.8321114838
MESH:D055370 Lung Injury Ozone 9.8320417186
MESH:D008175 Lung Neoplasms Ozone 2.108597069 7614698
MESH:D008679 Metaplasia Ozone 5.3210496685
MESH:D008881 Migraine Disorders Valproic Acid 3.2918765137 18803445
OMIM:253290 MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE marker/mechanism
MESH:D009139 Musculoskeletal Abnormalities Valproic Acid 4.178888407
OMIM:608930 MYASTHENIC SYNDROME, CONGENITAL, FAST-CHANNEL marker/mechanism
OMIM:601462 MYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL marker/mechanism
MESH:D009190 Myelodysplastic Syndromes Valproic Acid 3.2317596541
MESH:D009436 Neural Tube Defects Valproic Acid 3.2116359493 8888407
MESH:D009765 Obesity Dietary Fats 2.3117217161 20132043 21332399 18674790 19632207 16723640 11836018 18457598 20518802
MESH:D010538 Peritonitis Ozone 4.3116369182
MESH:D011014 Pneumonia Lipopolysaccharides 11.7611605937 12224865
MESH:D011014 Pneumonia Ozone 11.7618007984 18381685 18929643
MESH:D011297 Prenatal Exposure Delayed Effects Valproic Acid 4.0220603192
MESH:D019310 Pseudolymphoma Valproic Acid 4.7612752131 11422049
MESH:D012120 Respiration Disorders Chlorine 5.4318579056
MESH:D012130 Respiratory Hypersensitivity Lipopolysaccharides 3.8210835634
MESH:D012208 Rhabdomyosarcoma Valproic Acid 4.3219155313
MESH:D012559 Schizophrenia Valproic Acid 2.0815737665 19110320
MESH:D012640 Seizures Valproic Acid 2.8315475178 1511512 11738929 3137016 17978042 11044598 14763951 16876388
MESH:D016135 Spinal Dysraphism Valproic Acid 3.8919490988
MESH:D013226 Status Epilepticus Valproic Acid 4.7612833885
MESH:D013921 Thrombocytopenia Lipopolysaccharides 4.3015821434
MESH:D013959 Thyroid Diseases Thyroxine 5.8619910387
MESH:D014178 Translocation, Genetic Valproic Acid 5.4517262798
MESH:D020194 Unverricht-Lundborg Syndrome Valproic Acid 4.713119515
MESH:D014564 Urogenital Abnormalities Valproic Acid 4.828888407
MESH:D015430 Weight Gain Dietary Fats 3.8616723640
Pathway ID Pathway Name
KEGG:04080 Neuroactive ligand-receptor interaction
REACT:13685 Synaptic Transmission
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA26487
    • No data
    Releated disease ID Related disease Name
    PA152238425Multiple Pterygium Syndrome
    No data
    Drug Bank Top
    Drugbank ID Action Drug Name Description
    DB00674 allosteric modulator Galantamine Parasympathomimetics;Cholinesterase Inhibitors;Nootropic Agents
    No data
    No data
    No data

    Simple Query:


      (e.g. CHD8)

    Syndromic Genes

    Non-syndromic Genes

    AutismKB Statistics

    • Studies: 1,036
    • Genes: 1,379
    • CNVs/SVs: 5,420
    • SNVs/Indels: 11,669
    • de novo Mutations: 5,669
    • Mosaics: 789
    • Linkage Regions: 172
    • Paper Collected: 6/30/2018
    • Last Update: 8/26/2018


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