AutismKB 2.0

Annotation Detail for ABCA6


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Basic Information Top
Gene Symbol:ABCA6 ( EST155051,FLJ43498 )
Gene Full Name: ATP-binding cassette, sub-family A (ABC1), member 6
Band: 17q24.2-q24.3
Quick LinksEntrez ID:23460; OMIM: 612504; Uniprot ID:ABCA6_HUMAN; ENSEMBL ID: ENSG00000154262; HGNC ID: 36
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa02010ABC transporters
Pathway IDPathway Name
Transmembrane transport of small molecules
No data
No data
No data
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C016403 2,4-dinitrotoluene 2,4-dinitrotoluene affects the expression of ABCA6 mRNAaffects expression 21346803
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene affects the expression of ABCA6 mRNAaffects expression 21346803
D000082 Acetaminophen Acetaminophen affects the expression of ABCA6 mRNAaffects expression 17562736
D002220 Carbamazepine Carbamazepine results in increased expression of ABCA6 mRNAincreases expression 17112801
D004041 Dietary Fats Dietary Fats results in decreased expression of ABCA6 mRNAdecreases expression 18042831
D004997 Ethinyl Estradiol Ethinyl Estradiol results in increased expression of ABCA6 mRNAincreases expression 17942748
D004997 Ethinyl Estradiol [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of ABCA6 mRNAaffects cotreatment|increases expression 17942748
C029938 nickel sulfate nickel sulfate results in decreased expression of ABCA6 mRNAdecreases expression 16780908
C041786 palm oil palm oil results in decreased expression of ABCA6 mRNAdecreases expression 18042831
D010634 Phenobarbital Phenobarbital results in increased expression of ABCA6 mRNAincreases expression 19270015
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of ABCA6 mRNAaffects cotreatment|increases expression 17942748
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Carbamazepine 15.798986270
MESH:D000014 Abnormalities, Drug-Induced Phenobarbital 15.796195326
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 15.7915322242 14514962 11752688
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.2117505938
MESH:D055371 Acute Lung Injury nickel sulfate 4.4911954676 16100012 19131640 12718980
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 1.8514692618
MESH:D018248 Adenoma, Liver Cell Phenobarbital 10.8917620307
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 10.8916835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.1111748828
MESH:D000799 Angioedema Acetaminophen 4.1110982225
MESH:D001161 Arteriosclerosis Dietary Fats 10.6415238619
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 10.6411256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.7615885639
MESH:D001321 Autistic Disorder Acetaminophen 1.4118445737
MESH:D001714 Bipolar Disorder Carbamazepine 4.2117594078 20046352
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.2112125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.0615340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.8715746008
MESH:D001943 Breast Neoplasms Dietary Fats 1.9720435547
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.9720435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.9316835633
MESH:D006528 Carcinoma, Hepatocellular 2,4-dinitrotoluene 6.7516705839
MESH:D006528 Carcinoma, Hepatocellular 2,6-dinitrotoluene 6.7516705839
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 6.753084413
MESH:D006528 Carcinoma, Hepatocellular Phenobarbital 6.7517173139 20935162 20007298 1701930 6705139
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.4518670907 16120746 18850075
MESH:D002386 Cataract Acetaminophen 2.6710977129
MESH:D002471 Cell Transformation, Neoplastic 2,6-dinitrotoluene 2.886135515
MESH:D002493 Central Nervous System Diseases Phenobarbital 4.474080065
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.3116835633
MESH:D002779 Cholestasis Ethinyl Estradiol 3.0016919318 15861022 16105132 17110522 11677210 17681005 17333356
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.1615668235 16354765 12621046 8697196 15340226
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.2117141729 14669216
MESH:D019465 Craniofacial Abnormalities Carbamazepine 2.919014606
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 2.9110048152 20055451 15322242
MESH:D003490 Cyanosis 2,4-dinitrotoluene 11.6318551238
MESH:D003490 Cyanosis 2,6-dinitrotoluene 11.6318551238
MESH:D017449 Dermatitis, Allergic Contact nickel sulfate 3.8811298694 16823706 16780908
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7017107852
OMIM:607208 DRAVET SYNDROME Carbamazepine 5.6611748493
MESH:D004342 Drug Hypersensitivity Carbamazepine 4.5015057820 16538175 20216337 16538176
MESH:D056486 Drug-Induced Liver Injury 2,4-dinitrotoluene 12.5221346803 18551238
MESH:D056486 Drug-Induced Liver Injury 2,6-dinitrotoluene 12.5218551238 21346803
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 12.5219416960 10915739 16781746 16081117 10663392 19739265 19370779 11287661 11743745 16109766 11461765 11421492 18071297 17522070 18713872 15968718 14725611 17906064 11739529 11834606 17562736 16227642 12540782 15619225 12392966 16177239 14550746 19085960 12705907 12594235 11529661 19164858 12153990 2444490 16393943 14986274 16485898 19420014 19923254 12958197 10774834
MESH:D056486 Drug-Induced Liver Injury Carbamazepine 12.5217465707
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 12.5220420201
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.3619426721
MESH:D004362 Drug Toxicity Carbamazepine 8.8220216337
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 8.8211462148
MESH:D050171 Dyslipidemias Dietary Fats 3.5718367378
MESH:D004421 Dystonia Phenobarbital 4.191851702
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.5511000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.1718230668 15322242 16714409
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Carbamazepine 10.0517654737
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 10.0512538720
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.189294722 10568697
MESH:D004816 Epidermal Necrolysis, Toxic Carbamazepine 5.4519915237 18855540 16538176 20485159 16415921
MESH:D004831 Epilepsies, Myoclonic Carbamazepine 11.9117275665
MESH:D004831 Epilepsies, Myoclonic Phenobarbital 11.913659116
MESH:D004828 Epilepsies, Partial Carbamazepine 11.2617116037 16628512 15008574
MESH:D004828 Epilepsies, Partial Phenobarbital 11.263922381 11558140
MESH:D004827 Epilepsy Carbamazepine 7.32821787 7988514 9014606 20417680 19439326 18234410 19700373 17178248 19620853 17465707
MESH:D004827 Epilepsy Phenobarbital 7.3220417680
MESH:D004832 Epilepsy, Absence Phenobarbital 3.696401628
MESH:D017029 Epilepsy, Complex Partial Carbamazepine 12.427750514
MESH:D017029 Epilepsy, Complex Partial Phenobarbital 12.427750514
MESH:D004830 Epilepsy, Tonic-Clonic Carbamazepine 11.683659116 15276670
MESH:D004830 Epilepsy, Tonic-Clonic Phenobarbital 11.683659116
MESH:D004916 Erythromelalgia Carbamazepine 5.9619549232
MESH:D005076 Exanthema Carbamazepine 5.7020485159
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.1411564622
MESH:D005234 Fatty Liver Dietary Fats 8.3018296743 17967931 19551842 19004024
MESH:D005234 Fatty Liver Ethinyl Estradiol 8.3015345470
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.6711858732
MESH:D005355 Fibrosis Dietary Fats 9.3518296743
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 9.3520067830
MESH:D005756 Gastritis Acetaminophen 3.9416983495
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.8610696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.4110048152 11294989
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.5111000095
MESH:D006529 Hepatomegaly Phenobarbital 9.1716109766
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 9.1715340226 12621046 16120746
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.3115340226 18606429 16959395 16354765 8697196
MESH:D006930 Hyperalgesia Acetaminophen 2.8416870215
MESH:D006937 Hypercholesterolemia Dietary Fats 3.7621332399
MESH:D020138 Hyperhomocysteinemia Carbamazepine 4.8810459572
MESH:D006949 Hyperlipidemias Dietary Fats 3.8021332399
MESH:D006965 Hyperplasia Carbamazepine 5.4318773962
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 1.9618670907 18850075
MESH:D007021 Hypospadias Ethinyl Estradiol 4.0216569931 16945680
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.6512013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.5917937319
MESH:D007249 Inflammation Dietary Fats 5.1920412841
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 5.1912200463 12878042
MESH:D007333 Insulin Resistance Dietary Fats 3.2111836018 18457598
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.5116580747
MESH:D007674 Kidney Diseases Acetaminophen 2.2915629191 12587719
MESH:D007680 Kidney Neoplasms 2,4-dinitrotoluene 7.8516705839
MESH:D007680 Kidney Neoplasms 2,6-dinitrotoluene 7.8516705839
MESH:D008103 Liver Cirrhosis Dietary Fats 6.9518296743
MESH:D008103 Liver Cirrhosis Phenobarbital 6.9521047994
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 1.2412878042
MESH:D008107 Liver Diseases Acetaminophen 4.0619784758 12969438 19014921 16611625 12587719 11587558 16610002 19460945
MESH:D008107 Liver Diseases Phenobarbital 4.0619363144
MESH:D017114 Liver Failure, Acute Acetaminophen 3.4016871587 17185352
MESH:D008113 Liver Neoplasms 2,6-dinitrotoluene 7.737678174
MESH:D008113 Liver Neoplasms Phenobarbital 7.7315975961 19073162 19482888 19812893 8742319 21047994
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 7.7316984957
MESH:D008114 Liver Neoplasms, Experimental 2,6-dinitrotoluene 10.406135515 2876786 2876784
MESH:D008114 Liver Neoplasms, Experimental Phenobarbital 10.401399818 17172636 6150874 2563599 18308698
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 10.4012151625
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 1.2411884234 19555203
MESH:D008180 Lupus Erythematosus, Systemic Carbamazepine 3.6116628512
MESH:D008546 Melanoma, Experimental Acetaminophen 3.7819513568
MESH:D008607 Mental Retardation Carbamazepine 3.779014606
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.1612213967
MESH:D020191 Myoclonic Epilepsies, Progressive Phenobarbital 4.7117484760
MESH:D009224 Myotonia Congenita Carbamazepine 5.7020399394
MESH:D009336 Necrosis 2,4-dinitrotoluene 11.1518551238
MESH:D009336 Necrosis 2,6-dinitrotoluene 11.157678174 18551238
MESH:D009421 Nervous System Malformations Carbamazepine 10.6016990009
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 10.6014600291
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.0118514411
MESH:D009765 Obesity Dietary Fats 2.3220518802 18674790 19632207 21332399 11836018 18457598 17217161 20132043 16723640
MESH:D009784 Occupational Diseases 2,4-dinitrotoluene 9.4312819281 16049721
MESH:D009784 Occupational Diseases 2,6-dinitrotoluene 9.4316049721
MESH:D010018 Osteomalacia Carbamazepine 12.9017016548
MESH:D010018 Osteomalacia Phenobarbital 12.9017016548
MESH:D010146 Pain Acetaminophen 7.4816870215
MESH:D010146 Pain Carbamazepine 7.4815215642
MESH:D010190 Pancreatic Neoplasms Phenobarbital 2.5416965848
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.8711578682
MESH:D010267 Parapsoriasis Carbamazepine 5.9216538176
OMIM:167400 PAROXYSMAL EXTREME PAIN DISORDER Carbamazepine 6.1617145499 17679678
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.5112520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.7618163543
MESH:D011230 Precancerous Conditions Phenobarbital 3.772563599
MESH:D011248 Pregnancy Complications Carbamazepine 5.379014606
MESH:D011297 Prenatal Exposure Delayed Effects Carbamazepine 10.669014606
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 10.6611896295 11118676 11222880 11399792
MESH:D011537 Pruritus Ethinyl Estradiol 3.5516919318 15861022
MESH:D019310 Pseudolymphoma Carbamazepine 13.4812752131 9591791
MESH:D019310 Pseudolymphoma Phenobarbital 13.4812752131
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.0418990726
MESH:D012640 Seizures 2,4-dinitrotoluene 15.1018551238
MESH:D012640 Seizures 2,6-dinitrotoluene 15.1018551238
MESH:D012640 Seizures Carbamazepine 15.1016938433 15946322 9844417 16180713 9046859 16876388 19414003
MESH:D012640 Seizures Phenobarbital 15.103137016 11442880 16876388 4039156
MESH:D003294 Seizures, Febrile Phenobarbital 5.066407741
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.1116192470
MESH:D012893 Sleep Disorders Carbamazepine 5.3619414003
MESH:D013088 Spermatocele Ethinyl Estradiol 4.2116709447
MESH:D013262 Stevens-Johnson Syndrome Carbamazepine 5.4316538176 19694795 15057820 18855540 16415921 19915237 20485159
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.8011994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.3015669648
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.1712697716
MESH:D013964 Thyroid Neoplasms Phenobarbital 3.181399818
MESH:D001749 Urinary Bladder Neoplasms 2,4-dinitrotoluene 5.2116049721
MESH:D001749 Urinary Bladder Neoplasms 2,6-dinitrotoluene 5.2116049721
MESH:D014571 Urologic Neoplasms 2,4-dinitrotoluene 12.8010091137
MESH:D014571 Urologic Neoplasms 2,6-dinitrotoluene 12.8010091137
MESH:D014581 Urticaria Acetaminophen 3.1610982225
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.5014692618
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.8612125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.7114671159 15869587
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.5115886252
MESH:D015430 Weight Gain Dietary Fats 3.8916723640
Pathway ID Pathway Name
KEGG:02010 ABC transporters
REACT:15518 Transmembrane transport of small molecules
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA24381
    • Releated gene ID Related gene Name
    PA24381ABCA6
    No data
    No data
    Drug Bank Top
    Drugbank ID Action Drug Name Description
    DB03431 - Adenosine-5'-Diphosphate
    DB04402 - 2-Propanol, Isopropanol Solvents
    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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