AutismKB 2.0

Annotation Detail for B4GALNT1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:B4GALNT1 ( GALGT,GALNACT )
Gene Full Name: beta-1,4-N-acetyl-galactosaminyl transferase 1
Band: 12q13.3
Quick LinksEntrez ID:2583; OMIM: 601873; Uniprot ID:B4GN1_HUMAN; ENSEMBL ID: ENSG00000135454; HGNC ID: 4117
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa00604Glycosphingolipid biosynthesis - ganglio series
hsa01100Metabolic pathways
No data
No data
No data
No data
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1770Melanoma
1944Breast cancer
2053Colon cancer
No data
No data
No data
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000082 Acetaminophen Acetaminophen affects the expression of B4GALNT1 mRNAaffects expression 17562736
D000643 Ammonium Chloride Ammonium Chloride affects the expression of B4GALNT1 mRNAaffects expression 16483693
C006780 bisphenol A bisphenol A results in increased expression of B4GALNT1 mRNAincreases expression 18180321
D020111 Chlorodiphenyl (54% Chlorine) Chlorodiphenyl (54% Chlorine) results in decreased expression of B4GALNT1 mRNAdecreases expression 18178546
D016572 Cyclosporine Cyclosporine results in increased expression of B4GALNT1 mRNAincreases expression 20106945
D004958 Estradiol Estradiol results in increased expression of B4GALNT1 mRNAincreases expression 20106945
D004997 Ethinyl Estradiol Ethinyl Estradiol results in increased expression of B4GALNT1 mRNAincreases expression 17942748
D004997 Ethinyl Estradiol [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of B4GALNT1 mRNAaffects cotreatment|increases expression 17942748
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in increased expression of B4GALNT1 mRNAaffects binding|increases activity|increases expression 19710929
C006253 pirinixic acid pirinixic acid results in decreased expression of B4GALNT1 mRNAdecreases expression 20059764
C006253 pirinixic acid PPARA protein promotes the reaction [pirinixic acid results in decreased expression of B4GALNT1 mRNA]decreases expression|increases reaction 20059764
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of B4GALNT1 mRNAaffects cotreatment|increases expression 17942748
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in decreased expression of B4GALNT1 mRNAdecreases expression 16054898
16960034
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.1311752688 14514962 15322242
MESH:D000138 Acidosis Ammonium Chloride 3.8418287403
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.2617505938
MESH:D055371 Acute Lung Injury pirinixic acid 3.3418653653
MESH:D000230 Adenocarcinoma Estradiol 4.3711473722
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 4.3714692618
MESH:D018248 Adenoma, Liver Cell pirinixic acid 10.8716434500
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 10.8716835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.1411748828
MESH:D000799 Angioedema Acetaminophen 4.1610982225
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.7211256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.7815885639
MESH:D001321 Autistic Disorder Acetaminophen 1.4018445737
MESH:D001778 Blood Coagulation Disorders pirinixic acid 9.4619483382
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 9.4612125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.1115340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.8915746008
MESH:D001862 Bone Resorption bisphenol A 4.0711985600
MESH:D001943 Breast Neoplasms bisphenol A 1.8417123778
MESH:D001943 Breast Neoplasms Estradiol 1.8414630087 12948864 17018787 19861407 16675129 17261762 18497071 17289903
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.8420435547
MESH:D002181 Candidiasis, Vulvovaginal Estradiol 4.7516111702
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.9616835633
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 2.903084413
MESH:D006528 Carcinoma, Hepatocellular Estradiol 2.9016924424
MESH:D002278 Carcinoma in Situ bisphenol A 5.2717123778
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.4718850075 18670907 16120746
MESH:D002386 Cataract Acetaminophen 2.6910977129
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 7.0312371664
MESH:D002471 Cell Transformation, Neoplastic Estradiol 7.0318566989
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.3416835633
MESH:D002779 Cholestasis Cyclosporine 14.2319486331
MESH:D002779 Cholestasis Ethinyl Estradiol 14.2316919318 11677210 16105132 17110522 15861022 17681005 17333356
MESH:D002779 Cholestasis pirinixic acid 14.2319176532
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.1815668235 8697196 16354765 15340226 12621046
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.2414669216 17141729
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2620055451 15322242 10048152
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5118249437
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7117107852
MESH:D003928 Diabetic Nephropathies Estradiol 3.5919279558
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 6.5616177239 14725611 17522070 10663392 11421492 16781746 19085960 16485898 15968718 11739529 17906064 11743745 11287661 12705907 19739265 11461765 10915739 18071297 19923254 12540782 16393943 18713872 12958197 11529661 11834606 10774834 16227642 12153990 14986274 14550746 2444490 19416960 16109766 12392966 19370779 19420014 16081117 15619225 19164858 17562736 12594235
MESH:D056486 Drug-Induced Liver Injury Chlorodiphenyl (54% Chlorine) 6.5617851650
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 6.5620420201
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.4219426721
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.9111462148
MESH:D004487 Edema pirinixic acid 7.2312083418
MESH:D004487 Edema Tetrachlorodibenzodioxin 7.2311000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.2216714409 18230668 15322242
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 3.4212538720
MESH:D016889 Endometrial Neoplasms Estradiol 3.1111473722 18566989 19148513
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.2110568697 9294722
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.1611564622
MESH:D005234 Fatty Liver Cyclosporine 14.2319224547
MESH:D005234 Fatty Liver Ethinyl Estradiol 14.2315345470
MESH:D005234 Fatty Liver pirinixic acid 14.2320131406 19236843
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.7111858732
MESH:D005355 Fibrosis Cyclosporine 9.3612639820 12168785
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 9.3620067830
MESH:D005756 Gastritis Acetaminophen 3.9916983495
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.508708960
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.9110696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.4311294989 10048152
MESH:D006333 Heart Failure pirinixic acid 2.6520558911
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.7115720958
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.5411000095
MESH:D006529 Hepatomegaly pirinixic acid 9.1419772884 18467677 19176532 16221962
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 9.1416120746 15340226 12621046
MESH:D006558 Herpes Genitalis Estradiol 5.3515709030
MESH:D019584 Hot Flashes Estradiol 4.0717088409
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.368697196 16959395 15340226 18606429 16354765
MESH:D006930 Hyperalgesia Acetaminophen 2.8616870215
MESH:D006943 Hyperglycemia pirinixic acid 3.3820558911
MESH:D006973 Hypertension Cyclosporine 5.1710903974
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 5.1718670907 18850075
MESH:D007021 Hypospadias Ethinyl Estradiol 4.0716945680 16569931
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.6812013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.6217937319
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 1.9512878042 12200463
MESH:D007333 Insulin Resistance bisphenol A 13.0716393666
MESH:D007333 Insulin Resistance Estradiol 13.0716393666 16627594
MESH:D007333 Insulin Resistance pirinixic acid 13.0716306350
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.5416580747
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.7615604871
MESH:D007674 Kidney Diseases Acetaminophen 10.6212587719 15629191
MESH:D007674 Kidney Diseases Cyclosporine 10.628314463 18776723 10903974
MESH:D007674 Kidney Diseases Estradiol 10.6215618244
MESH:D007680 Kidney Neoplasms Cyclosporine 7.8512371664
MESH:D007680 Kidney Neoplasms Estradiol 7.8515610895
MESH:D008106 Liver Cirrhosis, Experimental Estradiol 3.4914659978 14716833
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 3.4915474484
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 3.4912878042
MESH:D008107 Liver Diseases Acetaminophen 1.6719784758 12969438 19460945 16611625 12587719 16610002 11587558 19014921
MESH:D017114 Liver Failure, Acute Acetaminophen 3.4317185352 16871587
MESH:D008113 Liver Neoplasms pirinixic acid 4.4720007298 16377806 15890375
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 4.4716984957
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 2.2212151625
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 1.2419555203 11884234
MESH:D008325 Mammary Neoplasms, Experimental Estradiol 2.6817203775 16891317 11807958 11408345
MESH:D020149 Manganese Poisoning Estradiol 4.8019453300
MESH:D008546 Melanoma, Experimental Acetaminophen 3.8319513568
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.1116801185
MESH:D009135 Muscular Diseases pirinixic acid 3.7616239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.2119151258
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.1812213967
MESH:D015428 Myocardial Reperfusion Injury Estradiol 8.7816810080
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 8.7816411023
MESH:D009369 Neoplasms pirinixic acid 2.0317405874
MESH:D009389 Neovascularization, Pathologic Estradiol 4.0217289903
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.7617954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.4719348381 18481113
MESH:D009421 Nervous System Malformations bisphenol A 17.8011399458 16427766
MESH:D009421 Nervous System Malformations Estradiol 17.8011399458 16427766
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 17.8014600291
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.0418514411
MESH:D009765 Obesity pirinixic acid 1.8520558911
MESH:D010049 Ovarian Diseases bisphenol A 5.2711985600
MESH:D010051 Ovarian Neoplasms Estradiol 2.2719401270
MESH:D010146 Pain Acetaminophen 2.5616870215
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.9111578682
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.5712520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.8018163543
MESH:D011230 Precancerous Conditions Cyclosporine 3.4012371664
MESH:D011297 Prenatal Exposure Delayed Effects bisphenol A 10.4810548101
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 10.4811896295 11118676 11399792 11222880
MESH:D019048 Prostatic Intraepithelial Neoplasia bisphenol A 11.2520887781
MESH:D019048 Prostatic Intraepithelial Neoplasia Estradiol 11.2520887781
MESH:D011471 Prostatic Neoplasms bisphenol A 3.2216740699
MESH:D011471 Prostatic Neoplasms Estradiol 3.2216740699
MESH:D011537 Pruritus Ethinyl Estradiol 3.6015861022 16919318
MESH:D011565 Psoriasis Cyclosporine 2.2916882103
MESH:D011629 Puberty, Precocious bisphenol A 5.0710548101
MESH:D015427 Reperfusion Injury pirinixic acid 2.4719058328
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.0818990726
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.1316192470
MESH:D013088 Spermatocele Ethinyl Estradiol 4.2616709447
MESH:D019966 Substance-Related Disorders bisphenol A 4.2716684133 16045194
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.8411994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.3315669648
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.2212697716
MESH:D013978 Tibial Fractures Estradiol 5.0019048282
MESH:D014581 Urticaria Acetaminophen 3.2010982225
MESH:D014591 Uterine Diseases bisphenol A 5.3314652134
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.5414692618
MESH:D014605 Uveitis Cyclosporine 4.301336536
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.9112125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.7514671159 15869587
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.5715886252
MESH:D014985 Xerophthalmia Cyclosporine 4.7617120751
Pathway ID Pathway Name
KEGG:00604 Glycosphingolipid biosynthesis - ganglio series
KEGG:01100 Metabolic pathways
Pharmacogenomics Knowledge Base Top
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