AutismKB 2.0

Annotation Detail for PBLD


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Basic Information Top
Gene Symbol:PBLD ( FLJ14767,FLJ35507,MAWBP,MAWDBP )
Gene Full Name: phenazine biosynthesis-like protein domain containing
Band: 10q21.3
Quick LinksEntrez ID:64081; OMIM: 612189; Uniprot ID:PBLD_HUMAN; ENSEMBL ID: ENSG00000108187; HGNC ID: 23301
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000082 Acetaminophen Acetaminophen affects the expression of PBLD mRNAaffects expression 17562736
D016604 Aflatoxin B1 Aflatoxin B1 affects the expression of PBLD proteinaffects expression 20106945
D000643 Ammonium Chloride Ammonium Chloride affects the expression of PBLD mRNAaffects expression 16483693
C006780 bisphenol A bisphenol A affects the expression of PBLD mRNAaffects expression 20170705
D016572 Cyclosporine Cyclosporine results in decreased expression of PBLD mRNAdecreases expression 20106945
D004958 Estradiol Estradiol results in decreased expression of PBLD mRNAdecreases expression 20106945
D004997 Ethinyl Estradiol Ethinyl Estradiol affects the expression of PBLD mRNAaffects expression 17555576
D004997 Ethinyl Estradiol Ethinyl Estradiol affects the expression of PBLD mRNAaffects expression 20170705
D004997 Ethinyl Estradiol Ethinyl Estradiol results in decreased expression of PBLD mRNAdecreases expression 17557909
D005492 Folic Acid Folic Acid affects the expression of PBLD proteinaffects expression 16251605
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in increased expression of PBLD mRNAaffects binding|increases activity|increases expression 19710929
C006253 pirinixic acid pirinixic acid results in increased expression of PBLD mRNAincreases expression 17426115
D013629 Tamoxifen Tamoxifen affects the expression of PBLD mRNAaffects expression 17555576
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in decreased expression of PBLD mRNAdecreases expression 20106945
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of PBLD mRNAincreases expression 18796159
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of PBLD mRNAincreases expression 16497791
18796159
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of PBLD proteinincreases expression 16497791
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000008 Abdominal Neoplasms Tamoxifen 4.7614745880
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.0415322242 14514962 11752688
MESH:D000138 Acidosis Ammonium Chloride 3.7518287403
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.1617505938
MESH:D058186 Acute Kidney Injury Folic Acid 4.4717003819 16316344 16595132
MESH:D055371 Acute Lung Injury pirinixic acid 3.2718653653
MESH:D000230 Adenocarcinoma Estradiol 4.3211473722
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 4.3214692618
MESH:D000236 Adenoma Folic Acid 3.8716963246
MESH:D018248 Adenoma, Liver Cell pirinixic acid 10.5616434500
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 10.5616835633
MESH:D000544 Alzheimer Disease Folic Acid 3.0717116317
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.0811748828
MESH:D000799 Angioedema Acetaminophen 4.0610982225
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.6411256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.7415885639
MESH:D001321 Autistic Disorder Acetaminophen 2.1618445737
MESH:D001321 Autistic Disorder Folic Acid 2.1621388746
MESH:D001778 Blood Coagulation Disorders pirinixic acid 9.2419483382
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 9.2412125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.0115340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.8515746008
MESH:D001862 Bone Resorption bisphenol A 4.0011985600
MESH:D001943 Breast Neoplasms bisphenol A 2.3817123778
MESH:D001943 Breast Neoplasms Estradiol 2.3816675129 17289903 17261762 19861407 14630087 17018787 12948864 18497071
MESH:D001943 Breast Neoplasms Folic Acid 2.3816777985
MESH:D001943 Breast Neoplasms Tamoxifen 2.3819103187 18855134 19011961 19059307 19244106 16273361 17049068 19189210 20859285 19142967 19487384 20135344 17261762 16202921 19289846 18821012 20005174 17242785 19066611 19084267 18425577 19155303 18997820 15565566 20390343 20065188 16873071 18815881 21152245 17893378 19200415 18629630 17440819 19221464 21138602 18351453 19410462 11161223 15668708 19189212 19288272 20544844 18984771 19115204 16818667
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 2.3820435547
MESH:D002181 Candidiasis, Vulvovaginal Estradiol 4.6616111702
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.9116835633
MESH:D018270 Carcinoma, Ductal, Breast Tamoxifen 4.6819066611
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 6.723084413
MESH:D006528 Carcinoma, Hepatocellular Aflatoxin B1 6.7221507988 12619106 12907637
MESH:D006528 Carcinoma, Hepatocellular Estradiol 6.7216924424
MESH:D006528 Carcinoma, Hepatocellular Tamoxifen 6.7216924424
MESH:D002278 Carcinoma in Situ bisphenol A 5.1817123778
MESH:D002295 Carcinoma, Transitional Cell Tamoxifen 3.7517572228
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.4418670907 16120746 18850075
MESH:D002318 Cardiovascular Diseases Folic Acid 4.0416755160
MESH:D002386 Cataract Acetaminophen 2.6610977129
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 6.8912371664
MESH:D002471 Cell Transformation, Neoplastic Estradiol 6.8918566989
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.2916835633
MESH:D002779 Cholestasis Cyclosporine 13.9519486331
MESH:D002779 Cholestasis Ethinyl Estradiol 13.9516919318 16105132 15861022 17110522 17681005 17333356 11677210
MESH:D002779 Cholestasis pirinixic acid 13.9519176532
MESH:D002971 Cleft Lip Folic Acid 4.0421254359
MESH:D002972 Cleft Palate Folic Acid 6.278946559 21254359
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 6.2712621046 15340226 16354765 8697196 15668235
MESH:D015179 Colorectal Neoplasms Folic Acid 2.7016985020 16963246 17116713 17087956 17245555
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.1817141729 14669216
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2615322242 10048152 20055451
MESH:D003711 Demyelinating Diseases Tamoxifen 4.5419031437
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.4818249437
MESH:D003924 Diabetes Mellitus, Type 2 Folic Acid 4.6716886840
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 4.6717107852
MESH:D003928 Diabetic Nephropathies Estradiol 9.2619279558
MESH:D003928 Diabetic Nephropathies Tamoxifen 9.2619279558
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 3.6811461765 16227642 19370779 19164858 19416960 16109766 18713872 12958197 16485898 2444490 16781746 17522070 10774834 15619225 14725611 19739265 12540782 19923254 16393943 11287661 11529661 19085960 17562736 15968718 12594235 14986274 12153990 11421492 11739529 12705907 14550746 18071297 19420014 16177239 12392966 17906064 10663392 11834606 11743745 10915739 16081117
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 3.6820420201
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.3219426721
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.8611462148
MESH:D004487 Edema pirinixic acid 7.0012083418
MESH:D004487 Edema Tetrachlorodibenzodioxin 7.0011000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.1216714409 15322242 18230668
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 9.4912538720
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Tamoxifen 9.4919031437
MESH:D016889 Endometrial Neoplasms Estradiol 13.0711473722 18566989 19148513
MESH:D016889 Endometrial Neoplasms Folic Acid 13.0717301261
MESH:D016889 Endometrial Neoplasms Tamoxifen 13.0720544844 16202921 17893378 19155303
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.159294722 10568697
MESH:D017889 Exfoliation Syndrome Folic Acid 5.6916504073
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.1211564622
MESH:D005234 Fatty Liver Cyclosporine 19.9419224547
MESH:D005234 Fatty Liver Ethinyl Estradiol 19.9415345470
MESH:D005234 Fatty Liver pirinixic acid 19.9420131406 19236843
MESH:D005234 Fatty Liver Tamoxifen 19.9414986274 19224547
MESH:D052776 Female Urogenital Diseases Tamoxifen 3.3116709447
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.6311858732
MESH:D018221 Fibromatosis, Abdominal Tamoxifen 4.7214745880
MESH:D018222 Fibromatosis, Aggressive Tamoxifen 4.3819069698
MESH:D005355 Fibrosis Cyclosporine 9.0712639820 12168785
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 9.0720067830
MESH:D005756 Gastritis Acetaminophen 12.0116983495
MESH:D005756 Gastritis Folic Acid 12.0117171786
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.418708960
MESH:D005901 Glaucoma Folic Acid 5.2316504073
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.8110696789
MESH:D006330 Heart Defects, Congenital Folic Acid 7.0916524890 17286298
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 7.0911294989 10048152
MESH:D006333 Heart Failure pirinixic acid 2.6220558911
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.6215720958
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.4811000095
MESH:D006529 Hepatomegaly pirinixic acid 8.8518467677 19176532 16221962 19772884
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 8.8515340226 12621046 16120746
MESH:D006558 Herpes Genitalis Estradiol 5.2515709030
MESH:D006679 HIV Seropositivity Folic Acid 5.6917209195
MESH:D019584 Hot Flashes Estradiol 3.9717088409
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.2615340226 16959395 8697196 18606429 16354765
MESH:D006930 Hyperalgesia Acetaminophen 2.8116870215
MESH:D006943 Hyperglycemia pirinixic acid 3.3120558911
MESH:D020138 Hyperhomocysteinemia Folic Acid 4.6216397167 16755160 16433478 16865747 16395265
MESH:D006973 Hypertension Cyclosporine 5.1010903974
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 5.1018670907 18850075
MESH:D007021 Hypospadias Ethinyl Estradiol 3.9816569931 16945680
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.6112013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.5717937319
MESH:D007249 Inflammation Tamoxifen 5.1119457130
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 5.1112878042 12200463
MESH:D007333 Insulin Resistance bisphenol A 12.8316393666
MESH:D007333 Insulin Resistance Estradiol 12.8316393666 16627594
MESH:D007333 Insulin Resistance pirinixic acid 12.8316306350
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.4816580747
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.6615604871
MESH:D007674 Kidney Diseases Acetaminophen 10.4212587719 15629191
MESH:D007674 Kidney Diseases Cyclosporine 10.428314463 18776723 10903974
MESH:D007674 Kidney Diseases Estradiol 10.4215618244
MESH:D007680 Kidney Neoplasms Cyclosporine 13.0712371664
MESH:D007680 Kidney Neoplasms Estradiol 13.0715610895
MESH:D007680 Kidney Neoplasms Tamoxifen 13.0718625569
MESH:D008064 Lipidoses Tamoxifen 3.2515342952 17567588
MESH:D008106 Liver Cirrhosis, Experimental Estradiol 5.0414716833 14659978
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 5.0415474484
MESH:D008106 Liver Cirrhosis, Experimental Tamoxifen 5.0418564211
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 5.0412878042
MESH:D008107 Liver Diseases Acetaminophen 4.3619460945 16611625 11587558 19784758 12587719 12969438 19014921 16610002
MESH:D008107 Liver Diseases Folic Acid 4.3616877991
MESH:D017114 Liver Failure, Acute Acetaminophen 3.3716871587 17185352
MESH:D008113 Liver Neoplasms Aflatoxin B1 11.082125692 18177683 9163691 15890375
MESH:D008113 Liver Neoplasms pirinixic acid 11.0816377806 20007298 15890375
MESH:D008113 Liver Neoplasms Tamoxifen 11.0816684651
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 11.0816984957
MESH:D008114 Liver Neoplasms, Experimental Aflatoxin B1 6.088603461
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 6.0812151625
MESH:D008175 Lung Neoplasms Aflatoxin B1 3.4614755239
MESH:D008175 Lung Neoplasms Tamoxifen 3.4618625569
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 3.4619555203 11884234
MESH:D008180 Lupus Erythematosus, Systemic Folic Acid 3.3717718048
MESH:D015674 Mammary Neoplasms, Animal Tamoxifen 3.9519428831
MESH:D008325 Mammary Neoplasms, Experimental Estradiol 6.2611408345 11807958 17203775 16891317
MESH:D008325 Mammary Neoplasms, Experimental Tamoxifen 6.2616827153 14580682 19196723 19196722 11731420
MESH:D020149 Manganese Poisoning Estradiol 13.3919453300
MESH:D020149 Manganese Poisoning Tamoxifen 13.3919453300
MESH:D019767 Maxillofacial Abnormalities Folic Acid 5.8916832597
MESH:D008545 Melanoma Tamoxifen 1.9012393984 19393235
MESH:D018328 Melanoma, Amelanotic Tamoxifen 4.3815990972
MESH:D008546 Melanoma, Experimental Acetaminophen 3.7419513568
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.0116801185
MESH:D009135 Muscular Diseases pirinixic acid 3.6816239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.1919151258
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.1312213967
MESH:D015428 Myocardial Reperfusion Injury Estradiol 8.6116810080
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 8.6116411023
MESH:D009362 Neoplasm Metastasis Tamoxifen 2.5919393235
MESH:D009364 Neoplasm Recurrence, Local Tamoxifen 2.5519410462
MESH:D009369 Neoplasms pirinixic acid 2.0117405874
MESH:D009376 Neoplasms, Hormone-Dependent Tamoxifen 4.2219200415 19196722 19189210
MESH:D009389 Neovascularization, Pathologic Estradiol 3.9317289903
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.6617954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.4118481113 19348381
MESH:D009421 Nervous System Malformations bisphenol A 17.3316427766 11399458
MESH:D009421 Nervous System Malformations Estradiol 17.3316427766 11399458
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 17.3314600291
MESH:D009436 Neural Tube Defects Folic Acid 4.0417438019
MESH:D019636 Neurodegenerative Diseases Acetaminophen 2.9918514411
MESH:D009503 Neutropenia Folic Acid 4.6516322990
MESH:D009765 Obesity pirinixic acid 1.8420558911
MESH:D010049 Ovarian Diseases bisphenol A 5.1811985600
MESH:D010051 Ovarian Neoplasms Estradiol 2.2519401270
MESH:D010146 Pain Acetaminophen 2.5016870215
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.8411578682
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.4712520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.7218163543
MESH:D011230 Precancerous Conditions Cyclosporine 3.3512371664
MESH:D011297 Prenatal Exposure Delayed Effects bisphenol A 10.1610548101
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 10.1611896295 11399792 11222880 11118676
MESH:D019048 Prostatic Intraepithelial Neoplasia bisphenol A 11.0220887781
MESH:D019048 Prostatic Intraepithelial Neoplasia Estradiol 11.0220887781
MESH:D011471 Prostatic Neoplasms bisphenol A 2.5416740699
MESH:D011471 Prostatic Neoplasms Estradiol 2.5416740699
MESH:D011471 Prostatic Neoplasms Tamoxifen 2.5415067354
MESH:D011537 Pruritus Ethinyl Estradiol 3.5115861022 16919318
MESH:D011565 Psoriasis Cyclosporine 2.2716882103
MESH:D011629 Puberty, Precocious bisphenol A 4.9810548101
MESH:D051437 Renal Insufficiency Folic Acid 4.9515728788
MESH:D015427 Reperfusion Injury pirinixic acid 2.4519058328
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.0018990726
MESH:D012559 Schizophrenia Folic Acid 2.9116641680
MESH:D012871 Skin Diseases Folic Acid 3.2818709164
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.1016192470
MESH:D013088 Spermatocele Ethinyl Estradiol 12.3016709447
MESH:D013088 Spermatocele Tamoxifen 12.3016709447
MESH:D013118 Spinal Cord Diseases Folic Acid 5.6916361298
MESH:D013119 Spinal Cord Injuries Tamoxifen 4.2319457130
MESH:D013274 Stomach Neoplasms Folic Acid 2.7017171786
MESH:D020521 Stroke Folic Acid 4.4416517955
MESH:D019966 Substance-Related Disorders bisphenol A 4.1816045194 16684133
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.7711994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.2815669648
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.1212697716
MESH:D013978 Tibial Fractures Estradiol 4.9019048282
MESH:D001749 Urinary Bladder Neoplasms Tamoxifen 2.408653321 17572228 16712894
MESH:D014581 Urticaria Acetaminophen 3.1210982225
MESH:D014591 Uterine Diseases bisphenol A 5.2314652134
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.4614692618
MESH:D014605 Uveitis Cyclosporine 4.201336536
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.8112125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.6814671159 15869587
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.4715886252
MESH:D014985 Xerophthalmia Cyclosporine 4.6617120751
No data
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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