AutismKB 2.0

Annotation Detail for ABCA2


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Basic Information Top
Gene Symbol:ABCA2 ( ABC2,MGC129761 )
Gene Full Name: ATP-binding cassette, sub-family A (ABC1), member 2
Band: 9q34.3
Quick LinksEntrez ID:20; OMIM: 600047; Uniprot ID:Q9HC28_HUMAN; ENSEMBL ID: ENSG00000107331; HGNC ID: 32
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1740Alzheimer's disease
1771Neurilemmoma
Desease Name
Alzheimer's disease
NEUROLOGICAL
No data
No data
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C016403 2,4-dinitrotoluene 2,4-dinitrotoluene affects the expression of ABCA2 mRNAaffects expression 21346803
D000638 Amiodarone Amiodarone results in increased expression of ABCA2 mRNAincreases expression 19774075
D016572 Cyclosporine Cyclosporine results in decreased expression of ABCA2 mRNAdecreases expression 20106945
C014707 nitrosobenzylmethylamine nitrosobenzylmethylamine results in decreased expression of ABCA2 mRNAdecreases expression 17616710
D014050 Toluene Toluene affects the expression of ABCA2 mRNAaffects expression 18653662
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D001145 Arrhythmias, Cardiac Amiodarone 4.1520041841 18218290 18057881
MESH:D001281 Atrial Fibrillation Amiodarone 4.1618651412 19698954
MESH:D001778 Blood Coagulation Disorders Amiodarone 4.2719483382
MESH:D006528 Carcinoma, Hepatocellular 2,4-dinitrotoluene 1.7816705839
MESH:D002311 Cardiomyopathy, Dilated Amiodarone 2.9915710769 19225199
MESH:D002341 Carotid Artery Thrombosis Amiodarone 5.6218974383
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 2.7612371664
MESH:D002547 Cerebral Palsy Toluene 6.399294310
MESH:D002779 Cholestasis Cyclosporine 3.1719486331
MESH:D019465 Craniofacial Abnormalities Toluene 2.899294310
MESH:D003490 Cyanosis 2,4-dinitrotoluene 4.5018551238
MESH:D003643 Death Toluene 6.286431079
MESH:D056486 Drug-Induced Liver Injury 2,4-dinitrotoluene 4.2918551238 21346803
MESH:D056486 Drug-Induced Liver Injury Amiodarone 4.2918218290 15265979
MESH:D004938 Esophageal Neoplasms nitrosobenzylmethylamine 2.8416704527 15547733 15264214 15878914 16510608 15623463 15547721 16805852 15150132
MESH:D005234 Fatty Liver Amiodarone 9.1014986274
MESH:D005234 Fatty Liver Cyclosporine 9.1019224547
MESH:D005355 Fibrosis Cyclosporine 3.6212639820 12168785
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.768708960
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.9615720958
MESH:D006529 Hepatomegaly Amiodarone 4.2315265979
MESH:D006937 Hypercholesterolemia Amiodarone 4.258137927 9751232
MESH:D006973 Hypertension Cyclosporine 2.2010903974
MESH:D007037 Hypothyroidism Amiodarone 5.0018020914 17991464
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 5.0515604871
MESH:D007674 Kidney Diseases Cyclosporine 2.528314463 10903974 18776723
MESH:D007680 Kidney Neoplasms 2,4-dinitrotoluene 8.3016705839
MESH:D007680 Kidney Neoplasms Cyclosporine 8.3012371664
MESH:D008064 Lipidoses Amiodarone 3.7615342952 17567588
MESH:D008133 Long QT Syndrome Amiodarone 3.8515350150 11989578 17391786
MESH:D008171 Lung Diseases Amiodarone 3.6012587719
MESH:D017563 Lung Diseases, Interstitial Amiodarone 5.0918516814
MESH:D008607 Mental Retardation Toluene 3.749294310
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.4016801185
MESH:D019957 Motor Skills Disorders Toluene 5.649294310
MESH:D009181 Mycoses Amiodarone 5.5112754197 17974566
MESH:D009336 Necrosis 2,4-dinitrotoluene 4.4018551238
MESH:D009402 Nephrosis, Lipoid Cyclosporine 5.0517954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.6119348381 18481113
MESH:D009784 Occupational Diseases 2,4-dinitrotoluene 3.7816049721 12819281
MESH:D011230 Precancerous Conditions Cyclosporine 3.5512371664
MESH:D011565 Psoriasis Cyclosporine 2.3216882103
MESH:D011658 Pulmonary Fibrosis Amiodarone 2.9611597910 12490602 12832656
MESH:D012640 Seizures 2,4-dinitrotoluene 7.0818551238
MESH:D012640 Seizures Toluene 7.086431079 9294310
OMIM:609620 SHORT QT SYNDROME 1 Amiodarone 5.6218724381
MESH:D013274 Stomach Neoplasms nitrosobenzylmethylamine 2.3312958204 17575124
MESH:D013276 Stomach Ulcer Amiodarone 3.6818087811
MESH:D013610 Tachycardia Amiodarone 4.7311238279
MESH:D017180 Tachycardia, Ventricular Amiodarone 4.6319225199
MESH:D013733 Testicular Diseases Toluene 5.4910514026 10048760
MESH:D013959 Thyroid Diseases Amiodarone 5.3719731979
MESH:D013971 Thyrotoxicosis Amiodarone 5.3418020914 19584973
MESH:D016171 Torsades de Pointes Amiodarone 4.7317467628 11989578
MESH:D001749 Urinary Bladder Neoplasms 2,4-dinitrotoluene 2.3916049721
MESH:D014571 Urologic Neoplasms 2,4-dinitrotoluene 4.8610091137
MESH:D014605 Uveitis Cyclosporine 4.591336536
MESH:D014985 Xerophthalmia Cyclosporine 5.0517120751
Pathway ID Pathway Name
KEGG:02010 ABC transporters
KEGG:04142 Lysosome
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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


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