AutismKB 2.0

Annotation Detail for DEFB1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:DEFB1 ( BD1,DEFB-1,DEFB101,HBD1,MGC51822 )
Gene Full Name: defensin, beta 1
Band: 8p23.1
Quick LinksEntrez ID:1672; OMIM: 602056; Uniprot ID:DEFB1_HUMAN; ENSEMBL ID: ENSG00000164825; HGNC ID: 2766
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
No data
No data
Desease Name
dermatitis and eczema
COPD
asthma atopy
Asthma
IMMUNE
Leprosy, Lepromatous
sepsis
Candida
HIV
INFECTION
No data
No data
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000643 Ammonium Chloride Ammonium Chloride affects the expression of DEFB1 mRNAaffects expression 16483693
D001151 Arsenic Arsenic results in decreased expression of DEFB1 mRNAdecreases expression 18511430
D001151 Arsenic Arsenic results in decreased expression of DEFB1 proteindecreases expression 18511430
D019324 beta-Naphthoflavone beta-Naphthoflavone results in decreased expression of DEFB1 mRNAdecreases expression 19737606
D001564 Benzo(a)pyrene Benzo(a)pyrene results in increased expression of DEFB1 mRNAincreases expression 20106945
D016572 Cyclosporine Cyclosporine results in decreased expression of DEFB1 mRNAdecreases expression 20106945
D004052 Diethylnitrosamine Diethylnitrosamine results in increased expression of DEFB1 mRNAincreases expression 19638242
D004391 Dust Dust results in decreased expression of DEFB1 mRNAdecreases expression 17805423
D005480 Flurbiprofen Flurbiprofen results in decreased expression of DEFB1 mRNAdecreases expression 16949054
C058305 phenethyl isothiocyanate phenethyl isothiocyanate results in increased expression of DEFB1 mRNAincreases expression 17616710
C006253 pirinixic acid pirinixic acid results in increased expression of DEFB1 mRNAincreases expression 20059764
18301758
C006253 pirinixic acid PPARA protein promotes the reaction [pirinixic acid results in increased expression of DEFB1 mRNA]increases expression|increases reaction 20059764
C025299 polyphenols polyphenols results in decreased expression of DEFB1 mRNAdecreases expression 16293270
C017947 sodium arsenite sodium arsenite results in decreased expression of DEFB1 mRNAdecreases expression 17350061
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in decreased expression of DEFB1 mRNAdecreases expression 20106945
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 2.9614514962 15322242 11752688
MESH:D000138 Acidosis Ammonium Chloride 3.6818287403
MESH:D055371 Acute Lung Injury pirinixic acid 3.2018653653
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 2.0020127859 20464547
MESH:D000236 Adenoma Benzo(a)pyrene 11.476695378
MESH:D000236 Adenoma beta-Naphthoflavone 11.4719389873
MESH:D000236 Adenoma Diethylnitrosamine 11.476695378 10737359
MESH:D018248 Adenoma, Liver Cell Diethylnitrosamine 17.9918056438 19052882 17162532 16434500 17620307 19061943
MESH:D018248 Adenoma, Liver Cell pirinixic acid 17.9916434500
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 17.9916835633
MESH:D011125 Adenomatous Polyposis Coli Flurbiprofen 5.1410680582
MESH:D000310 Adrenal Gland Neoplasms sodium arsenite 4.8315276417
MESH:D018246 Adrenocortical Adenoma Arsenic 14.2517306315
MESH:D018246 Adrenocortical Adenoma sodium arsenite 14.2517306315 16712894
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.0211748828
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.1819183758
MESH:D020261 Arsenic Poisoning Arsenic 2.8912569548 16835338 18414634 16251483
MESH:D050197 Atherosclerosis Arsenic 3.2912928151 19371607
MESH:D001778 Blood Coagulation Disorders pirinixic acid 9.0419483382
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 9.0412125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 3.9215340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.8115746008
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 1.8020146248 17474063
MESH:D001943 Breast Neoplasms Diethylnitrosamine 1.8017474063
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.8020435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.8616835633
MESH:D002280 Carcinoma, Basal Cell Arsenic 3.6315504454 17687452
MESH:D006528 Carcinoma, Hepatocellular Arsenic 4.7417306315 16507464
MESH:D006528 Carcinoma, Hepatocellular Diethylnitrosamine 4.7417978847 20101231 19539802 18056438 18210153 20512989 18506893 20432363 16328049 20084675 3084413 17162532 16502159 10737359 19701751 18971187 18788625 11831363 19919837 16681979 19052882 21159647 20727157 18691550 16878318 3581430 20514400 19335982 16288022 19107877 17173139 18785209 17138121 16807293 19171122 18665156 17055752 20007298 16569478 20524982 16698587 19383236 20214788 16779866 19208518 18393292 10672840 19418558 16935385 18494052 16540662 19519916 16830150 17761372 20935162 19822196 17428255 19394651 18978308
MESH:D006528 Carcinoma, Hepatocellular sodium arsenite 4.7417306315 15276417 16507464
MESH:D002294 Carcinoma, Squamous Cell Arsenic 7.6918922899 17687452 15504454
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 7.6920419170
MESH:D002294 Carcinoma, Squamous Cell sodium arsenite 7.6918572023
MESH:D002295 Carcinoma, Transitional Cell Arsenic 4.1518640142
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.4116120746 18850075 18670907
MESH:D002318 Cardiovascular Diseases Arsenic 3.5017938729 19152805 15738583
MESH:D002340 Carotid Artery Diseases Arsenic 4.3818022660 16973168
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 11.5112371664
MESH:D002471 Cell Transformation, Neoplastic Diethylnitrosamine 11.517505956 21159647 17174075 2727394
MESH:D002471 Cell Transformation, Neoplastic sodium arsenite 11.5120056578 19524636
MESH:D018281 Cholangiocarcinoma Diethylnitrosamine 9.5719052882
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 9.5716835633
MESH:D002779 Cholestasis Cyclosporine 7.9619486331
MESH:D002779 Cholestasis pirinixic acid 7.9619176532
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.1316354765 8697196 12621046 15340226 15668235
MESH:D003093 Colitis, Ulcerative phenethyl isothiocyanate 3.6720423518
MESH:D003110 Colonic Neoplasms polyphenols 2.6816293270
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.1317141729 14669216
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2615322242 10048152 20055451
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.4618249437
MESH:D003924 Diabetes Mellitus, Type 2 Diethylnitrosamine 4.2820387270
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 4.2817107852
MESH:D056486 Drug-Induced Liver Injury Diethylnitrosamine 6.4119107877
MESH:D056486 Drug-Induced Liver Injury polyphenols 6.4119370779
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 6.4120420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.8211462148
MESH:D004487 Edema pirinixic acid 6.8112083418
MESH:D004487 Edema Tetrachlorodibenzodioxin 6.8111000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.0416714409 15322242 18230668
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.109294722 10568697
MESH:D004931 Esophageal Achalasia Diethylnitrosamine 5.2516302075
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 2.0216530937
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.0711564622
MESH:D005234 Fatty Liver Cyclosporine 13.5319224547
MESH:D005234 Fatty Liver Diethylnitrosamine 13.5321071580 20387270
MESH:D005234 Fatty Liver pirinixic acid 13.5320131406 19236843
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.5611858732
MESH:D005355 Fibrosis Cyclosporine 8.8312639820 12168785
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 8.8320067830
MESH:D005534 Foot Diseases Arsenic 5.696392382
MESH:D005833 Genital Neoplasms, Female sodium arsenite 4.8016452187
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.348708960
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.7310696789
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 6.5820471113
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 6.5810048152 11294989
MESH:D006333 Heart Failure pirinixic acid 2.5820558911
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.5415720958
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.4211000095
MESH:D006529 Hepatomegaly pirinixic acid 8.6119176532 19772884 16221962 18467677
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 8.6112621046 16120746 15340226
MESH:D006689 Hodgkin Disease sodium arsenite 3.2212676792
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.188697196 15340226 16959395 18606429 16354765
MESH:D006943 Hyperglycemia pirinixic acid 3.2620558911
MESH:D017488 Hyperkeratosis, Epidermolytic Arsenic 4.5317050553
MESH:D006973 Hypertension Arsenic 8.7516076760 11953799 9931084
MESH:D006973 Hypertension Cyclosporine 8.7510903974
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 8.7518670907 18850075
MESH:D006987 Hypesthesia Arsenic 5.6916093927
MESH:D007248 Infertility, Male sodium arsenite 3.0412646999 15346721
MESH:D007249 Inflammation Diethylnitrosamine 12.3918785209
MESH:D007249 Inflammation Flurbiprofen 12.3911099482
MESH:D007249 Inflammation polyphenols 12.3916366677
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 12.3912878042 12200463
MESH:D007333 Insulin Resistance pirinixic acid 2.6816306350
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.4216580747
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.5815604871
MESH:D007642 Keratosis Arsenic 5.1112749816 16930632
MESH:D007674 Kidney Diseases Cyclosporine 6.168314463 10903974 18776723
MESH:D007674 Kidney Diseases sodium arsenite 6.1620008137
MESH:D007680 Kidney Neoplasms Cyclosporine 2.8012371664
MESH:D015473 Leukemia, Promyelocytic, Acute Arsenic 3.6017339181
MESH:D008103 Liver Cirrhosis Diethylnitrosamine 2.8718665156 18407596 18522880 20032147 19638242
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 2.1615474484
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 2.1612878042
MESH:D008107 Liver Diseases Arsenic 6.8111134558
MESH:D008107 Liver Diseases Diethylnitrosamine 6.8117034775
MESH:D008107 Liver Diseases polyphenols 6.8116698588
MESH:D008113 Liver Neoplasms Arsenic 22.3816368122
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 22.3821137059 20195826
MESH:D008113 Liver Neoplasms beta-Naphthoflavone 22.3821295105 19389873
MESH:D008113 Liver Neoplasms Diethylnitrosamine 22.3818978307 20101389 9163691 19255062 19812893 19996281 20501860 21071580 19850985 20583210 20434301 18977376 21047994 19642983 18644402 15175105 20405173 19254457 20118626 18648771 21167192 19294768 19833225 18754104 19090486 19426721 20452335 21278145 19256749 19499222 19073162 19638242 20492335 20137499 16942905 12771043 15885732 19690152 19551842 12112319 10737359 19427195 2422723 2862719
MESH:D008113 Liver Neoplasms pirinixic acid 22.3820007298 16377806 15890375
MESH:D008113 Liver Neoplasms sodium arsenite 22.3816712894 15276417
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 22.3816984957
MESH:D008114 Liver Neoplasms, Experimental beta-Naphthoflavone 10.1518164116
MESH:D008114 Liver Neoplasms, Experimental Diethylnitrosamine 10.1518282651 19004024 19519916 17854601 18308698 3124819 19009564 9362446 16267830 17942915 18775883 17174075 19539802 16842330 18544905 2563599 21159647 18093689 18079962 18253720 18164116 19126423
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 10.1512151625
MESH:D008171 Lung Diseases sodium arsenite 3.2219095001
MESH:D008175 Lung Neoplasms Arsenic 6.6817306315 19168569 17976673
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 6.6817053015 6695378 18520028 20064080 20464547 20135361 18569708 20869020 18816296
MESH:D008175 Lung Neoplasms Diethylnitrosamine 6.6821163286 20970405 6695378 20512841
MESH:D008175 Lung Neoplasms sodium arsenite 6.6817306315 17077188 19931552 15276417 16712894
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 6.6811884234 19555203
MESH:D008545 Melanoma sodium arsenite 2.0416487513 19082730
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 4.9216801185
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.2516381670
MESH:D009135 Muscular Diseases pirinixic acid 3.6116239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.1719151258
MESH:D017202 Myocardial Ischemia Arsenic 9.2215371236
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 9.2212213967
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.0116411023
MESH:D009362 Neoplasm Metastasis Diethylnitrosamine 2.599029167 3581430
MESH:D009369 Neoplasms Benzo(a)pyrene 8.4311141357
MESH:D009369 Neoplasms pirinixic acid 8.4317405874
MESH:D009369 Neoplasms sodium arsenite 8.4311559025
MESH:D009374 Neoplasms, Experimental sodium arsenite 3.7720056578
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.5817954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.3618481113 19348381
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.3114600291
MESH:D009436 Neural Tube Defects Arsenic 7.6316620997
MESH:D009436 Neural Tube Defects sodium arsenite 7.6312854658
MESH:D019636 Neurodegenerative Diseases Diethylnitrosamine 3.4120387270
MESH:D020078 Neurogenic Inflammation Arsenic 4.4617056641
MESH:D009461 Neurologic Manifestations Diethylnitrosamine 5.2520387270
MESH:D009765 Obesity pirinixic acid 1.8320558911
MESH:D010051 Ovarian Neoplasms Arsenic 5.1117306315
MESH:D010051 Ovarian Neoplasms sodium arsenite 5.1115276417 17306315
MESH:D010190 Pancreatic Neoplasms Diethylnitrosamine 2.4516540662
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.3812520081
MESH:D010523 Peripheral Nervous System Diseases Arsenic 4.2716093927
MESH:D016491 Peripheral Vascular Diseases Arsenic 5.1116905509 15371236 6392382
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.6518163543
MESH:D011230 Precancerous Conditions Cyclosporine 9.1912371664
MESH:D011230 Precancerous Conditions Diethylnitrosamine 9.192563599
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.3111399792 11896295 11222880 11118676
MESH:D011471 Prostatic Neoplasms marker/mechanism 17013881
MESH:D011471 Prostatic Neoplasms Arsenic 2.1416140617
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 2.1417292933
MESH:D011471 Prostatic Neoplasms Flurbiprofen 2.1417409433
MESH:D011471 Prostatic Neoplasms sodium arsenite 2.1416039940
MESH:D011507 Proteinuria Arsenic 4.0921343184
MESH:D011565 Psoriasis Cyclosporine 2.2516882103
MESH:D015427 Reperfusion Injury pirinixic acid 2.4219058328
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 3.9318990726
MESH:D012871 Skin Diseases Arsenic 2.7617050553 6392382 17938729 16353154 17453740 16759981 15952646 19834688 17548696 16702368 18709164
MESH:D012878 Skin Neoplasms Arsenic 13.8717029826 15504454 17976673 19538983 16251483 17050553
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 13.8719755658 10029692
MESH:D012878 Skin Neoplasms sodium arsenite 13.8719524636 18572023
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 13.8716192470
MESH:D016135 Spinal Dysraphism sodium arsenite 3.8612854658
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 2.352093021 20155912
MESH:D013274 Stomach Neoplasms Diethylnitrosamine 2.3518456281
MESH:D013705 Temporomandibular Joint Disorders polyphenols 5.3917997062
MESH:D013733 Testicular Diseases phenethyl isothiocyanate 5.0615864552
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.0412697716
MESH:D013964 Thyroid Neoplasms Diethylnitrosamine 3.047505956
MESH:D001749 Urinary Bladder Neoplasms Arsenic 8.5411144890 19322015 17306315 17976673 19429237 15987713 18640142
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 8.5417053015
MESH:D001749 Urinary Bladder Neoplasms sodium arsenite 8.5416452187 16712894 17306315 11723127
MESH:D002583 Uterine Cervical Neoplasms sodium arsenite 3.8411813266
MESH:D014605 Uveitis Cyclosporine 4.121336536
MESH:D014652 Vascular Diseases Arsenic 12.2417056641
MESH:D014652 Vascular Diseases sodium arsenite 12.2417056641
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.7312125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.3815886252
MESH:D014985 Xerophthalmia Cyclosporine 4.5817120751
No data
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


Copyright © 2017, Center for Bioinformatics , Peking University | All Rights Reserved