AutismKB 2.0

Annotation Detail for C1GALT1


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Basic Information Top
Gene Symbol:C1GALT1 ( C1GALT,T-synthase )
Gene Full Name: core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1
Band: 7p22.1-p21.3
Quick LinksEntrez ID:56913; OMIM: 610555; Uniprot ID:C1GLT_HUMAN; ENSEMBL ID: ENSG00000106392; HGNC ID: 24337
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa00512O-Glycan biosynthesis
hsa01100Metabolic pathways
No data
No data
No data
No data
Related Diseases/Disorders Top
No data
No data
Desease Name
multiple sclerosis (severity)
RENAL
IMMUNE
nephropathy, IgA
Desease Name
Multiple sclerosis (severity)
No data
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C548651 2-(1'H-indolo-3'-carbonyl)thiazole-4-carboxylic acid methyl ester 2-(1'H-indolo-3'-carbonyl)thiazole-4-carboxylic acid methyl ester results in decreased expression of C1GALT1 mRNAdecreases expression 19933214
D000643 Ammonium Chloride Ammonium Chloride affects the expression of C1GALT1 mRNAaffects expression 16483693
D002995 Clofibric Acid [Diethylnitrosamine co-treated with Clofibric Acid] affects the expression of C1GALT1 mRNAaffects cotreatment|affects expression 17602206
D004052 Diethylnitrosamine [Diethylnitrosamine co-treated with Clofibric Acid] affects the expression of C1GALT1 mRNAaffects cotreatment|affects expression 17602206
C014707 nitrosobenzylmethylamine nitrosobenzylmethylamine results in increased expression of C1GALT1 mRNAincreases expression 17616710
D010634 Phenobarbital Phenobarbital results in increased expression of C1GALT1 mRNAincreases expression 19270015
C006253 pirinixic acid pirinixic acid results in decreased expression of C1GALT1 mRNAdecreases expression 17426115
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in decreased expression of C1GALT1 mRNAdecreases expression 19933214
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Phenobarbital 9.446195326
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 9.4411752688 15322242 14514962
MESH:D000138 Acidosis Ammonium Chloride 3.9018287403
MESH:D055371 Acute Lung Injury pirinixic acid 3.3818653653
MESH:D000236 Adenoma Diethylnitrosamine 2.986695378 10737359
MESH:D018248 Adenoma, Liver Cell Diethylnitrosamine 27.9316434500 19061943 19052882 17620307 18056438 17162532
MESH:D018248 Adenoma, Liver Cell Phenobarbital 27.9317620307
MESH:D018248 Adenoma, Liver Cell pirinixic acid 27.9316434500
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 27.9316835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.1711748828
MESH:D001778 Blood Coagulation Disorders pirinixic acid 9.5919483382
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 9.5912125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.1715340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.9115746008
MESH:D001943 Breast Neoplasms Diethylnitrosamine 1.9417474063
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.9420435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.9916835633
MESH:D006528 Carcinoma, Hepatocellular Diethylnitrosamine 3.1418665156 16779866 16328049 16807293 16502159 20935162 19418558 18210153 18978308 20101231 20512989 20432363 16540662 3084413 10737359 19383236 16698587 18691550 20514400 19107877 16830150 17162532 20727157 17428255 17138121 18971187 19171122 3581430 18506893 19052882 16878318 19394651 19701751 21159647 18788625 18494052 10672840 11831363 20214788 18785209 19919837 20007298 16935385 19822196 16569478 19519916 17055752 16681979 16288022 19335982 17173139 18393292 19208518 20084675 17978847 18056438 19539802 17761372 20524982
MESH:D006528 Carcinoma, Hepatocellular Phenobarbital 3.1417173139 20935162 1701930 6705139 20007298
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.4918850075 18670907 16120746
MESH:D002471 Cell Transformation, Neoplastic Diethylnitrosamine 3.017505956 2727394 21159647 17174075
MESH:D002493 Central Nervous System Diseases Phenobarbital 4.564080065
MESH:D018281 Cholangiocarcinoma Diethylnitrosamine 10.0519052882
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 10.0516835633
MESH:D002779 Cholestasis pirinixic acid 3.0019176532
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.198697196 12621046 16354765 15340226 15668235
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.2714669216 17141729
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2615322242 20055451 10048152
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5218249437
MESH:D003924 Diabetes Mellitus, Type 2 Diethylnitrosamine 4.3820387270
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 4.3817107852
MESH:D056486 Drug-Induced Liver Injury Diethylnitrosamine 3.9319107877
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 3.9320420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.9311462148
MESH:D004421 Dystonia Phenobarbital 4.261851702
MESH:D004487 Edema pirinixic acid 7.3512083418
MESH:D004487 Edema Tetrachlorodibenzodioxin 7.3512711302 11000095
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.2815322242 16714409 18230668
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.2510568697 9294722
MESH:D004831 Epilepsies, Myoclonic Phenobarbital 4.413659116
MESH:D004828 Epilepsies, Partial Phenobarbital 4.2511558140 3922381
MESH:D004827 Epilepsy Phenobarbital 3.0020417680
MESH:D004832 Epilepsy, Absence Phenobarbital 3.766401628
MESH:D017029 Epilepsy, Complex Partial Phenobarbital 4.567750514
MESH:D004830 Epilepsy, Tonic-Clonic Phenobarbital 4.363659116
MESH:D004931 Esophageal Achalasia Diethylnitrosamine 5.4916302075
MESH:D004938 Esophageal Neoplasms nitrosobenzylmethylamine 2.8215264214 16510608 15547733 15623463 15150132 15547721 15878914 16805852 16704527
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.1911564622
MESH:D005234 Fatty Liver Diethylnitrosamine 8.5021071580 20387270
MESH:D005234 Fatty Liver pirinixic acid 8.5019236843 20131406
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.7611858732
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.2520067830
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.9710696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.4410048152 11294989
MESH:D006333 Heart Failure pirinixic acid 2.6720558911
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.5811000095
MESH:D006529 Hepatomegaly Phenobarbital 16.2516109766
MESH:D006529 Hepatomegaly pirinixic acid 16.2518467677 16221962 19176532 19772884
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 16.2512621046 16120746 15340226
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.4216354765 15340226 16959395 18606429 8697196
MESH:D006943 Hyperglycemia pirinixic acid 3.4120558911
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 1.9818670907 18850075
MESH:D007249 Inflammation Diethylnitrosamine 5.2718785209
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 5.2712878042 12200463
MESH:D007333 Insulin Resistance pirinixic acid 2.7816306350
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.5816580747
MESH:D008103 Liver Cirrhosis Diethylnitrosamine 7.0420032147 18665156 18407596 19638242 18522880
MESH:D008103 Liver Cirrhosis Phenobarbital 7.0421047994
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 2.1915474484
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 2.1912878042
MESH:D008107 Liver Diseases Diethylnitrosamine 4.2817034775
MESH:D008107 Liver Diseases Phenobarbital 4.2819363144
MESH:D008113 Liver Neoplasms Clofibric Acid 15.1017602206
MESH:D008113 Liver Neoplasms Diethylnitrosamine 15.1019690152 19427195 19426721 9163691 21278145 19256749 18648771 18978307 19638242 2422723 19499222 20501860 15175105 16942905 19254457 21047994 20137499 19812893 12771043 10737359 12112319 18644402 18977376 18754104 20101389 20118626 2862719 20492335 19996281 20452335 21071580 19833225 19850985 19073162 20583210 19090486 20434301 20405173 19642983 15885732 21167192 19255062 19294768 19551842
MESH:D008113 Liver Neoplasms Phenobarbital 15.1021047994 8742319 19482888 19812893 15975961 19073162
MESH:D008113 Liver Neoplasms pirinixic acid 15.1016377806 20007298 15890375
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 15.1016984957
MESH:D008114 Liver Neoplasms, Experimental Diethylnitrosamine 10.6418253720 19539802 19126423 16267830 18775883 19009564 19004024 2563599 3124819 16842330 18079962 19519916 18544905 18282651 21159647 17854601 18164116 9362446 17174075 18308698 18093689 17942915
MESH:D008114 Liver Neoplasms, Experimental Phenobarbital 10.641399818 6150874 18308698 17172636 2563599
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 10.6412151625
MESH:D008175 Lung Neoplasms Diethylnitrosamine 2.316695378 20970405 20512841 21163286
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 2.3119555203 11884234
MESH:D009135 Muscular Diseases pirinixic acid 3.8116239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.2219151258
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.2112213967
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.1316411023
MESH:D020191 Myoclonic Epilepsies, Progressive Phenobarbital 4.8117484760
MESH:D009362 Neoplasm Metastasis Diethylnitrosamine 2.659029167 3581430
MESH:D009369 Neoplasms pirinixic acid 2.0517405874
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.4914600291
MESH:D019636 Neurodegenerative Diseases Diethylnitrosamine 3.5420387270
MESH:D009461 Neurologic Manifestations Diethylnitrosamine 5.4920387270
MESH:D009765 Obesity pirinixic acid 1.8620558911
MESH:D010018 Osteomalacia Phenobarbital 4.7017016548
MESH:D010190 Pancreatic Neoplasms Diethylnitrosamine 5.5116540662
MESH:D010190 Pancreatic Neoplasms Phenobarbital 5.5116965848
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.6212520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.8418163543
MESH:D011230 Precancerous Conditions Diethylnitrosamine 9.822563599
MESH:D011230 Precancerous Conditions Phenobarbital 9.822563599
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.5311399792 11118676 11222880 11896295
MESH:D019310 Pseudolymphoma Phenobarbital 4.8712752131
MESH:D015427 Reperfusion Injury pirinixic acid 2.4919058328
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.1218990726
MESH:D012640 Seizures Phenobarbital 2.8416876388 3137016 11442880 4039156
MESH:D003294 Seizures, Febrile Phenobarbital 5.166407741
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.1416192470
MESH:D013274 Stomach Neoplasms Diethylnitrosamine 2.6618456281
MESH:D013274 Stomach Neoplasms nitrosobenzylmethylamine 2.6617575124 12958204
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.2812697716
MESH:D013964 Thyroid Neoplasms Diethylnitrosamine 7.797505956
MESH:D013964 Thyroid Neoplasms Phenobarbital 7.791399818
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.9712125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.6215886252
Pathway ID Pathway Name
KEGG:01100 Metabolic pathways
KEGG:00512 Mucin type O-Glycan biosynthesis
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA134971259
    • No data
    Releated disease ID Related disease Name
    PA444987Multiple Sclerosis
    No data
    Drug Bank Top

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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


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