AutismKB 2.0

Annotation Detail for NPTXR


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Basic Information Top
Gene Symbol:NPTXR ( NPR )
Gene Full Name: neuronal pentraxin receptor
Band: 22q13.1
Quick LinksEntrez ID:23467; OMIM: 609474; Uniprot ID:NPTXR_HUMAN; ENSEMBL ID: ENSG00000221890; HGNC ID: 7954
Relate to Another Database: SFARIGene; denovo-db
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Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000638 Amiodarone Amiodarone results in increased expression of NPTXR mRNAincreases expression 19774075
D002713 Chlorine [Ozone co-treated with Chlorine] results in increased expression of NPTXR mRNAaffects cotreatment|increases expression 18636392
D000431 Ethanol Ethanol results in increased expression of NPTXR mRNAincreases expression 17920746
D010126 Ozone [Ozone co-treated with Chlorine] results in increased expression of NPTXR mRNAaffects cotreatment|increases expression 18636392
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Ethanol 4.5518926900 17676605
MESH:D000138 Acidosis Ethanol 5.1311192467
MESH:D055371 Acute Lung Injury Chlorine 4.7820601635
MESH:D020268 Alcohol-Induced Disorders, Nervous System Ethanol 6.0415451040 15451039
MESH:D000544 Alzheimer Disease Ozone 2.5015513908
MESH:D000853 Anophthalmos Ethanol 5.3815513904
MESH:D001008 Anxiety Disorders Ethanol 4.3311141031
MESH:D001145 Arrhythmias, Cardiac Amiodarone 4.2018218290 18057881 20041841
MESH:D001172 Arthritis, Rheumatoid Ozone 2.6315570426
MESH:D001249 Asthma Ozone 2.7317854713 16373670
MESH:D001281 Atrial Fibrillation Amiodarone 4.2019698954 18651412
MESH:D001778 Blood Coagulation Disorders Amiodarone 4.3219483382
MESH:D016535 Bronchial Hyperreactivity Ozone 4.0014754758 18417511 16777450 18315731 15516495 19059883 17626835
MESH:D002056 Burns Ethanol 5.2116374292
MESH:D002100 Cachexia Ozone 5.3716183385
MESH:D006528 Carcinoma, Hepatocellular Ethanol 2.4215763234 18788625 15289165
MESH:D006332 Cardiomegaly Ethanol 3.6319332462
MESH:D002311 Cardiomyopathy, Dilated Amiodarone 3.0019225199 15710769
MESH:D002341 Carotid Artery Thrombosis Amiodarone 5.7218974383
MESH:D002971 Cleft Lip Ethanol 3.7615513904
MESH:D002972 Cleft Palate Ethanol 3.3115513904
MESH:D019465 Craniofacial Abnormalities Ethanol 2.3415451039 11198716 15513904 10194807 15451040 19302082 11873399
MESH:D056486 Drug-Induced Liver Injury Amiodarone 4.5515265979 18218290
MESH:D056486 Drug-Induced Liver Injury Ethanol 4.5511566570
MESH:D004417 Dyspnea Chlorine 5.3520016425
MESH:D004938 Esophageal Neoplasms Ethanol 2.8316704527
MESH:D005234 Fatty Liver Amiodarone 9.6114986274
MESH:D005234 Fatty Liver Ethanol 9.6119236843 16409862 18620774
MESH:D005235 Fatty Liver, Alcoholic Ethanol 6.3917920746
MESH:D005310 Fetal Alcohol Syndrome Ethanol 5.9315513904 16946407 15451040 10194807
MESH:D005739 Gas Poisoning Chlorine 5.7320016425
MESH:D005756 Gastritis Ethanol 5.4215046732
MESH:D006529 Hepatomegaly Amiodarone 4.3115265979
MESH:D006930 Hyperalgesia Ethanol 4.0418783367
MESH:D006937 Hypercholesterolemia Amiodarone 4.308137927 9751232
MESH:D007037 Hypothyroidism Amiodarone 5.0818020914 17991464
MESH:D007569 Jaw Abnormalities Ethanol 4.8315513904
MESH:D007859 Learning Disorders Ethanol 4.7715451040
MESH:D017880 Limb Deformities, Congenital Ethanol 4.0917676605
MESH:D008064 Lipidoses Amiodarone 3.7915342952 17567588
MESH:D008103 Liver Cirrhosis Ethanol 3.5615289165
MESH:D008104 Liver Cirrhosis, Alcoholic Ethanol 5.7318295389
MESH:D008106 Liver Cirrhosis, Experimental Ethanol 2.3218166357
MESH:D008108 Liver Diseases, Alcoholic Ethanol 5.2117207112 17347304
MESH:D008133 Long QT Syndrome Amiodarone 3.8911989578 15350150 17391786
MESH:D008171 Lung Diseases Amiodarone 8.4412587719
MESH:D008171 Lung Diseases Ozone 8.448266340 19066396
MESH:D017563 Lung Diseases, Interstitial Amiodarone 5.2018516814
MESH:D055370 Lung Injury Ozone 4.4120417186
MESH:D008175 Lung Neoplasms Ozone 2.107614698 8597069
MESH:D008569 Memory Disorders Ethanol 4.6918411066 15451040
MESH:D008679 Metaplasia Ozone 5.8310496685
MESH:D009181 Mycoses Amiodarone 5.6217974566 12754197
MESH:D010190 Pancreatic Neoplasms Ethanol 3.0812384795
MESH:D010538 Peritonitis Ozone 4.6916369182
MESH:D011014 Pneumonia Ozone 5.0318007984 18929643 18381685
MESH:D011658 Pulmonary Fibrosis Amiodarone 2.9712832656 11597910 12490602
MESH:D012120 Respiration Disorders Chlorine 5.9318579056
MESH:D012640 Seizures Ethanol 3.429754883
OMIM:609620 SHORT QT SYNDROME 1 Amiodarone 5.7218724381
MESH:D013274 Stomach Neoplasms Ethanol 2.3118456281
MESH:D013276 Stomach Ulcer Amiodarone 8.9318087811
MESH:D013276 Stomach Ulcer Ethanol 8.9311906479 17918041 17189318 9211565 9562338 16755016
MESH:D013375 Substance Withdrawal Syndrome Ethanol 4.659754883
MESH:D013610 Tachycardia Amiodarone 4.8011238279
MESH:D017180 Tachycardia, Ventricular Amiodarone 4.7019225199
MESH:D013959 Thyroid Diseases Amiodarone 5.4819731979
MESH:D013971 Thyrotoxicosis Amiodarone 5.4218020914 19584973
MESH:D016171 Torsades de Pointes Amiodarone 4.8211989578 17467628
No data
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Syndromic Genes

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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