AutismKB 2.0

Annotation Detail for ABCD3


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Basic Information Top
Gene Symbol:ABCD3 ( ABC43,PMP70,PXMP1,ZWS2 )
Gene Full Name: ATP-binding cassette, sub-family D (ALD), member 3
Band: 1p21.3
Quick LinksEntrez ID:5825; OMIM: 170995; Uniprot ID:ABCD3_HUMAN; ENSEMBL ID: ENSG00000117528; HGNC ID: 67
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa02010ABC transporters
hsa04146Peroxisome
Pathway IDPathway Name
Transmembrane transport of small molecules
No data
No data
No data
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1896Adrenoleukodystrophy
No data
No data
Desease Name
Zellweger syndrome-2
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000082 Acetaminophen Acetaminophen affects the expression of ABCD3 mRNAaffects expression 17562736
C103303 alitretinoin alitretinoin results in increased expression of ABCD3 mRNAincreases expression 16648578
D000643 Ammonium Chloride Ammonium Chloride affects the expression of ABCD3 mRNAaffects expression 16483693
D016718 Arachidonic Acid Arachidonic Acid results in decreased expression of ABCD3 mRNAdecreases expression 16704987
C095105 bexarotene bexarotene results in increased expression of ABCD3 mRNAincreases expression 16648578
D002994 Clofibrate PPARA protein affects the reaction [Clofibrate results in increased expression of ABCD3 mRNA]affects reaction|increases expression 17585979
D016572 Cyclosporine Cyclosporine results in decreased expression of ABCD3 mRNAdecreases expression 20106945
D015084 2,4-Dichlorophenoxyacetic Acid 2,4-Dichlorophenoxyacetic Acid results in increased expression of ABCD3 proteinincreases expression 11460719
D004281 Docosahexaenoic Acids PPARA protein promotes the reaction [Docosahexaenoic Acids results in increased expression of ABCD3 mRNA]increases expression|increases reaction 18489776
D015118 Eicosapentaenoic Acid PPARA protein promotes the reaction [Eicosapentaenoic Acid results in increased expression of ABCD3 mRNA]increases expression|increases reaction 18489776
D004958 Estradiol Estradiol affects the expression of ABCD3 mRNAaffects expression 14699072
D011345 Fenofibrate Fenofibrate results in increased expression of ABCD3 mRNAincreases expression 17118139
C479979 GW0742 GW0742 results in increased expression of ABCD3 proteinincreases expression 18593727
C479979 GW0742 PPARA protein promotes the reaction [GW0742 results in increased expression of ABCD3 protein]increases expression|increases reaction 18593727
D019301 Oleic Acid PPARA protein promotes the reaction [Oleic Acid results in increased expression of ABCD3 mRNA]increases expression|increases reaction 18489776
C023036 perfluorooctanoic acid perfluorooctanoic acid affects the expression of ABCD3 mRNAaffects expression 18281256
C023036 perfluorooctanoic acid perfluorooctanoic acid results in increased expression of ABCD3 mRNAincreases expression 17681415
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in increased expression of ABCD3 mRNAaffects binding|increases activity|increases expression 18489776
C006253 pirinixic acid pirinixic acid results in increased expression of ABCD3 mRNAincreases expression 20059764
18301758
15375163
17118139
17426115
C006253 pirinixic acid pirinixic acid results in increased expression of ABCD3 proteinincreases expression 18593727
C006253 pirinixic acid PPARA protein promotes the reaction [pirinixic acid results in increased expression of ABCD3 mRNA]increases expression|increases reaction 20059764
D013629 Tamoxifen Tamoxifen results in decreased expression of ABCD3 mRNAdecreases expression 17555576
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of ABCD3 mRNAincreases expression 16267337
D013752 Tetracycline Tetracycline results in increased expression of ABCD3 mRNAincreases expression 16917069
D019772 Topotecan ABCD3 protein affects the susceptibility to Topotecanaffects response to substance 16217747
C034613 triacsin C triacsin C results in decreased expression of ABCD3 mRNAdecreases expression 16704987
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000008 Abdominal Neoplasms Tamoxifen 4.4414745880
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 2.7415322242 14514962 11752688
MESH:D000138 Acidosis Ammonium Chloride 3.4518287403
MESH:D055371 Acute Lung Injury pirinixic acid 3.0118653653
MESH:D000230 Adenocarcinoma Estradiol 2.0711473722
MESH:D018248 Adenoma, Liver Cell pirinixic acid 9.5416434500
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 9.5416835633
MESH:D000382 Agricultural Workers' Diseases 2,4-Dichlorophenoxyacetic Acid 5.0116132792
MESH:D000740 Anemia Tetrachlorodibenzodioxin 2.8511748828
MESH:D000799 Angioedema Acetaminophen 3.7410982225
MESH:D000860 Anoxia Oleic Acid 5.7915090967
MESH:D001321 Autistic Disorder Acetaminophen 2.3818445737
MESH:D001321 Autistic Disorder Arachidonic Acid 2.3818582451
MESH:D001321 Autistic Disorder Docosahexaenoic Acids 2.3818582451
MESH:D001778 Blood Coagulation Disorders Clofibrate 14.7719483382
MESH:D001778 Blood Coagulation Disorders pirinixic acid 14.7719483382
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 14.7712125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 3.6915340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.6915746008
MESH:D001943 Breast Neoplasms alitretinoin 2.3216344269
MESH:D001943 Breast Neoplasms bexarotene 2.3216818667 16344269
MESH:D001943 Breast Neoplasms Estradiol 2.3212948864 17261762 14630087 17289903 18497071 19861407 16675129 17018787
MESH:D001943 Breast Neoplasms Tamoxifen 2.3219115204 19084267 17049068 16202921 21152245 19189210 20859285 19189212 16873071 18855134 17261762 19142967 15565566 19221464 19410462 17893378 19200415 18815881 19487384 19011961 19103187 18629630 18984771 19066611 21138602 18351453 20544844 18997820 20390343 11161223 20005174 20135344 19288272 16273361 17440819 18821012 15668708 19289846 19155303 18425577 19059307 17242785 20065188 19244106 16818667
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 2.3220435547
MESH:D002181 Candidiasis, Vulvovaginal Estradiol 4.3516111702
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.7116835633
MESH:D018270 Carcinoma, Ductal, Breast Tamoxifen 4.4019066611
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 4.423084413
MESH:D006528 Carcinoma, Hepatocellular Estradiol 4.4216924424
MESH:D006528 Carcinoma, Hepatocellular Tamoxifen 4.4216924424
MESH:D002289 Carcinoma, Non-Small-Cell Lung bexarotene 3.1916247446
MESH:D002295 Carcinoma, Transitional Cell Tamoxifen 3.5217572228
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.3116120746 18670907 18850075
MESH:D002386 Cataract Acetaminophen 2.5210977129
MESH:D002471 Cell Transformation, Neoplastic Clofibrate 10.801399818
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 10.8012371664
MESH:D002471 Cell Transformation, Neoplastic Estradiol 10.8018566989
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.0716835633
MESH:D002779 Cholestasis Cyclosporine 7.4919486331
MESH:D002779 Cholestasis pirinixic acid 7.4919176532
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.0616354765 15340226 12621046 8697196 15668235
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 2.9614669216 17141729
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2515322242 20055451 10048152
MESH:D003550 Cystic Fibrosis Docosahexaenoic Acids 4.5719747007
MESH:D003711 Demyelinating Diseases Tamoxifen 4.2519031437
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.3818249437
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.6417107852
MESH:D003928 Diabetic Nephropathies Estradiol 8.5219279558
MESH:D003928 Diabetic Nephropathies Tamoxifen 8.5219279558
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 6.0512540782 11287661 11739529 19739265 11529661 10915739 18713872 16109766 16393943 17906064 19416960 15968718 16781746 11421492 12392966 17522070 12153990 16081117 11743745 17562736 10663392 19370779 11461765 16227642 16485898 14986274 14550746 10774834 18071297 15619225 12705907 19923254 14725611 2444490 12594235 19420014 12958197 16177239 19164858 11834606 19085960
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 6.0520420201
MESH:D056486 Drug-Induced Liver Injury Tetracycline 6.0517522070
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 3.9919426721
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.6811462148
MESH:D050171 Dyslipidemias Clofibrate 8.9116707586
MESH:D050171 Dyslipidemias Fenofibrate 8.9116707586
MESH:D004487 Edema Arachidonic Acid 15.6611698051 16716910 9831321 15177302 9599246 7990266
MESH:D004487 Edema perfluorooctanoic acid 15.6617259670 12083418
MESH:D004487 Edema pirinixic acid 15.6612083418
MESH:D004487 Edema Tetrachlorodibenzodioxin 15.6612711302 11000095
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 3.8015322242 16714409 18230668
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Tamoxifen 3.4319031437
MESH:D016889 Endometrial Neoplasms Estradiol 12.1419148513 18566989 11473722
MESH:D016889 Endometrial Neoplasms Fenofibrate 12.1416569247
MESH:D016889 Endometrial Neoplasms Tamoxifen 12.1417893378 20544844 19155303 16202921
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 2.929294722 10568697
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 2.9311564622
MESH:D005234 Fatty Liver Clofibrate 23.5919224547
MESH:D005234 Fatty Liver Cyclosporine 23.5919224547
MESH:D005234 Fatty Liver pirinixic acid 23.5919236843 20131406
MESH:D005234 Fatty Liver Tamoxifen 23.5914986274 19224547
MESH:D005234 Fatty Liver Tetracycline 23.5916917069 19224547
MESH:D052776 Female Urogenital Diseases Tamoxifen 3.1716709447
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.3511858732
MESH:D005334 Fever Arachidonic Acid 4.5611852909
MESH:D018221 Fibromatosis, Abdominal Tamoxifen 4.4214745880
MESH:D018222 Fibromatosis, Aggressive Tamoxifen 4.0719069698
MESH:D005355 Fibrosis Cyclosporine 8.1212168785 12639820
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 8.1220067830
MESH:D005756 Gastritis Acetaminophen 3.5716983495
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.118708960
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.4910696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.2710048152 11294989
MESH:D006333 Heart Failure pirinixic acid 2.4720558911
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.3115720958
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.2311000095
MESH:D006529 Hepatomegaly GW0742 19.9218593727
MESH:D006529 Hepatomegaly perfluorooctanoic acid 19.923609246
MESH:D006529 Hepatomegaly pirinixic acid 19.9219772884 18467677 19176532 16221962
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 19.9216120746 15340226 12621046
MESH:D006558 Herpes Genitalis Estradiol 4.9315709030
MESH:D019584 Hot Flashes Estradiol 3.6517088409
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 3.948697196 18606429 16959395 15340226 16354765
MESH:D006930 Hyperalgesia Acetaminophen 7.5716870215
MESH:D006930 Hyperalgesia perfluorooctanoic acid 7.5712083418
MESH:D006943 Hyperglycemia pirinixic acid 3.0820558911
MESH:D006973 Hypertension Cyclosporine 4.8110903974
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 4.8118850075 18670907
MESH:D007248 Infertility, Male 2,4-Dichlorophenoxyacetic Acid 4.5312948887
MESH:D007249 Inflammation Arachidonic Acid 11.569831321 15177302 17371808
MESH:D007249 Inflammation perfluorooctanoic acid 11.5612083418
MESH:D007249 Inflammation Tamoxifen 11.5619457130
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 11.5612200463 12878042
MESH:D007333 Insulin Resistance Estradiol 6.9616627594 16393666
MESH:D007333 Insulin Resistance pirinixic acid 6.9616306350
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.2316580747
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.3415604871
MESH:D017492 Keratosis, Seborrheic alitretinoin 5.5316144296
MESH:D007674 Kidney Diseases Acetaminophen 9.6112587719 15629191
MESH:D007674 Kidney Diseases Cyclosporine 9.618314463 10903974 18776723
MESH:D007674 Kidney Diseases Estradiol 9.6115618244
MESH:D007680 Kidney Neoplasms Cyclosporine 11.8512371664
MESH:D007680 Kidney Neoplasms Estradiol 11.8515610895
MESH:D007680 Kidney Neoplasms Tamoxifen 11.8518625569
MESH:D015459 Leukemia-Lymphoma, Adult T-Cell Docosahexaenoic Acids 4.9017077332
MESH:D007984 Leydig Cell Tumor perfluorooctanoic acid 5.128812269
MESH:D008064 Lipidoses Tamoxifen 3.0817567588 15342952
MESH:D008106 Liver Cirrhosis, Experimental Estradiol 6.5914659978 14716833
MESH:D008106 Liver Cirrhosis, Experimental Fenofibrate 6.5915474484
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 6.5915474484
MESH:D008106 Liver Cirrhosis, Experimental Tamoxifen 6.5918564211
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 6.5912878042
MESH:D008107 Liver Diseases Acetaminophen 4.2919784758 12969438 11587558 16611625 12587719 16610002 19460945 19014921
MESH:D008107 Liver Diseases Docosahexaenoic Acids 4.2917056761
MESH:D017114 Liver Failure, Acute Acetaminophen 3.1417185352 16871587
MESH:D008113 Liver Neoplasms Fenofibrate 13.8218978307
MESH:D008113 Liver Neoplasms perfluorooctanoic acid 13.8214757943 18709148
MESH:D008113 Liver Neoplasms pirinixic acid 13.8216377806 20007298 15890375
MESH:D008113 Liver Neoplasms Tamoxifen 13.8216684651
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 13.8216984957
MESH:D008114 Liver Neoplasms, Experimental Fenofibrate 5.9118253720 18775883
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 5.9112151625
MESH:D055370 Lung Injury Oleic Acid 5.2415090967
MESH:D008175 Lung Neoplasms alitretinoin 4.8016413115
MESH:D008175 Lung Neoplasms bexarotene 4.8017849452
MESH:D008175 Lung Neoplasms Tamoxifen 4.8018625569
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 4.8011884234 19555203
MESH:D008228 Lymphoma, Non-Hodgkin 2,4-Dichlorophenoxyacetic Acid 5.0616132792
MESH:D016410 Lymphoma, T-Cell, Cutaneous bexarotene 5.0411161223
MESH:D015674 Mammary Neoplasms, Animal Tamoxifen 3.6519428831
MESH:D008325 Mammary Neoplasms, Experimental bexarotene 9.6319196723 15591091 19196722
MESH:D008325 Mammary Neoplasms, Experimental Estradiol 9.6311807958 17203775 11408345 16891317
MESH:D008325 Mammary Neoplasms, Experimental Tamoxifen 9.6319196722 14580682 16827153 11731420 19196723
MESH:D020149 Manganese Poisoning Estradiol 12.2919453300
MESH:D020149 Manganese Poisoning Tamoxifen 12.2919453300
MESH:D008545 Melanoma Tamoxifen 1.8719393235 12393984
MESH:D018328 Melanoma, Amelanotic Tamoxifen 4.0715990972
MESH:D008546 Melanoma, Experimental Acetaminophen 3.4619513568
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 4.6816801185
MESH:D009135 Muscular Diseases GW0742 10.7018593727
MESH:D009135 Muscular Diseases pirinixic acid 10.7016239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.1019151258
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 2.9312213967
MESH:D015428 Myocardial Reperfusion Injury Estradiol 7.9716810080
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 7.9716411023
MESH:D009362 Neoplasm Metastasis Tamoxifen 2.5019393235
MESH:D009364 Neoplasm Recurrence, Local Tamoxifen 2.4819410462
MESH:D009369 Neoplasms alitretinoin 5.0416946489
MESH:D009369 Neoplasms pirinixic acid 5.0417405874
MESH:D009376 Neoplasms, Hormone-Dependent bexarotene 10.5819196722
MESH:D009376 Neoplasms, Hormone-Dependent Tamoxifen 10.5819200415 19189210 19196722
MESH:D009389 Neovascularization, Pathologic Estradiol 3.6217289903
MESH:D009395 Nephritis, Interstitial Tetracycline 4.689884423
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.3417954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.1919348381 18481113
MESH:D009421 Nervous System Malformations Estradiol 9.1111399458 16427766
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 9.1114600291
MESH:D009447 Neuroblastoma Topotecan 3.7915176712
MESH:D019636 Neurodegenerative Diseases Acetaminophen 2.7818514411
MESH:D052556 Niemann-Pick Disease, Type C Clofibrate 11.709802331
MESH:D052556 Niemann-Pick Disease, Type C perfluorooctanoic acid 11.709802331
MESH:D009765 Obesity pirinixic acid 1.7920558911
MESH:D010051 Ovarian Neoplasms Estradiol 2.1919401270
MESH:D010146 Pain Acetaminophen 2.3016870215
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.1412520081
MESH:D010391 Pemphigoid, Bullous Tetracycline 5.3311026799
MESH:D017499 Porokeratosis alitretinoin 5.9016144296
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.4518163543
MESH:D011230 Precancerous Conditions Cyclosporine 3.1312371664
MESH:D011248 Pregnancy Complications 2,4-Dichlorophenoxyacetic Acid 5.622087686
MESH:D011297 Prenatal Exposure Delayed Effects perfluorooctanoic acid 9.3117132714
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 9.3111896295 11118676 11222880 11399792
MESH:D017096 Prion Diseases Tetracycline 5.3010903871
MESH:D019048 Prostatic Intraepithelial Neoplasia Estradiol 3.7820887781
MESH:D011471 Prostatic Neoplasms Estradiol 3.2116740699
MESH:D011471 Prostatic Neoplasms Tamoxifen 3.2115067354
MESH:D011565 Psoriasis Cyclosporine 2.1916882103
MESH:D011654 Pulmonary Edema Oleic Acid 5.7015090967
MESH:D015427 Reperfusion Injury pirinixic acid 2.3319058328
MESH:D012128 Respiratory Distress Syndrome, Adult Oleic Acid 5.2418549715
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 3.7318990726
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 1.9916192470
MESH:D013088 Spermatocele Tamoxifen 4.1916709447
MESH:D013119 Spinal Cord Injuries Tamoxifen 3.9319457130
MESH:D013274 Stomach Neoplasms Docosahexaenoic Acids 3.0619015929
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 3.8012697716
MESH:D013978 Tibial Fractures Estradiol 4.5819048282
MESH:D001749 Urinary Bladder Neoplasms Tamoxifen 2.3116712894 8653321 17572228
MESH:D014581 Urticaria Acetaminophen 2.8710982225
MESH:D014605 Uveitis Cyclosporine 3.881336536
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.4912125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.1415886252
MESH:D014985 Xerophthalmia Cyclosporine 4.3417120751
MESH:D015211 Zellweger Syndrome marker/mechanism
Pathway ID Pathway Name
KEGG:02010 ABC transporters
KEGG:04146 Peroxisome
REACT:15518 Transmembrane transport of small molecules
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA24402
    • Releated gene ID Related gene Name
    PA24402ABCD3
    No data
    No data
    Drug Bank Top

    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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