AutismKB 2.0

Annotation Detail for LBR


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Basic Information Top
Gene Symbol:LBR ( DHCR14B,FLJ43126,LMN2R,MGC9041,PHA )
Gene Full Name: lamin B receptor
Band: 1q42.12
Quick LinksEntrez ID:3930; OMIM: 600024; Uniprot ID:LBR_HUMAN; ENSEMBL ID: ENSG00000143815; HGNC ID: 6518
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Pathway IDPathway Name
PWY66-341cholesterol biosynthesis I
PWY66-4cholesterol biosynthesis III (via desmosterol)
PWY66-3cholesterol biosynthesis II (via 24,25-dihydrolanosterol)
PWY-6074zymosterol biosynthesis
No data
Pathway IDPathway Name
Metabolism of lipids and lipoproteins
No data
No data
Pathway IDPathway Name
500825Cholesterol biosynthesis
Related Diseases/Disorders Top
Desease IDDesease Name
Circulatory system diseases
Hematologic diseases
H00234Pelger-Huet anomaly
No data
No data
No data
Desease Name
Reynolds syndrome
Greenberg dysplasia
Pelger-Huet anomaly
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000082 Acetaminophen Acetaminophen affects the expression of LBR mRNAaffects expression 17562736
D000643 Ammonium Chloride Ammonium Chloride affects the expression of LBR mRNAaffects expression 16483693
D001564 Benzo(a)pyrene Benzo(a)pyrene results in decreased expression of LBR mRNAdecreases expression 20064835
D015123 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in decreased expression of LBR mRNAdecreases expression 19150397
D020122 tert-Butylhydroperoxide tert-Butylhydroperoxide results in decreased expression of LBR mRNAdecreases expression 12414654
D004997 Ethinyl Estradiol Ethinyl Estradiol results in increased expression of LBR mRNAincreases expression 17942748
D004997 Ethinyl Estradiol [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of LBR mRNAaffects cotreatment|increases expression 17942748
D005419 Flavonoids Flavonoids results in decreased expression of LBR mRNAdecreases expression 18035473
D006861 Hydrogen Peroxide Hydrogen Peroxide results in decreased expression of LBR mRNAdecreases expression 12414654
C017947 sodium arsenite sodium arsenite results in decreased expression of LBR mRNAdecreases expression 19072884
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of LBR mRNAincreases expression 11007951
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of LBR mRNAaffects cotreatment|increases expression 17942748
D024483 Vitamin K 3 Vitamin K 3 results in decreased expression of LBR mRNAdecreases expression 12414654
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.0414514962 15322242 11752688
MESH:D000138 Acidosis Ammonium Chloride 3.7518287403
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.1617505938
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 4.2820127859 20464547
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 4.2814692618
MESH:D000236 Adenoma Benzo(a)pyrene 2.736695378
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.5716835633
MESH:D000310 Adrenal Gland Neoplasms sodium arsenite 4.9215276417
MESH:D018246 Adrenocortical Adenoma sodium arsenite 5.1217306315 16712894
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.0811748828
MESH:D000799 Angioedema Acetaminophen 4.0610982225
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.2519183758
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.6411256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.7415885639
MESH:D001321 Autistic Disorder Acetaminophen 1.4118445737
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.1812125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.0115340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.8515746008
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 1.8820146248 17474063
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.8820435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.9116835633
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 2.963084413
MESH:D006528 Carcinoma, Hepatocellular sodium arsenite 2.9617306315 15276417 16507464
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 4.7220419170
MESH:D002294 Carcinoma, Squamous Cell sodium arsenite 4.7218572023
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.4418670907 16120746 18850075
MESH:D002318 Cardiovascular Diseases Hydrogen Peroxide 3.6116936243
MESH:D002386 Cataract Acetaminophen 2.6610977129
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 7.0420889678
MESH:D002471 Cell Transformation, Neoplastic sodium arsenite 7.0419524636 20056578
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.2916835633
MESH:D002779 Cholestasis Ethinyl Estradiol 2.9817333356 16919318 11677210 16105132 17110522 17681005 15861022
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.158697196 16354765 15340226 15668235 12621046
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.1814669216 17141729
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2610048152 15322242 20055451
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.6917107852
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 3.6811421492 12540782 11287661 11739529 11834606 11743745 19416960 11529661 16081117 16393943 12705907 18713872 17906064 10663392 16177239 17562736 18071297 19420014 19739265 16485898 19085960 10774834 16227642 16781746 16109766 15619225 17522070 14550746 14725611 12153990 14986274 19370779 12594235 12392966 12958197 19923254 19164858 2444490 15968718 10915739 11461765
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 Tetrachlorodibenzodioxin 2.5111000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.1218230668 15322242 16714409
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 3.3512538720
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.1510568697 9294722
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 4.4620426865
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 4.4616530937
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.1211564622
MESH:D005234 Fatty Liver Ethinyl Estradiol 2.9515345470
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.6311858732
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.1220067830
MESH:D005756 Gastritis Acetaminophen 3.8916983495
MESH:D005833 Genital Neoplasms, Female sodium arsenite 4.8716452187
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.8110696789
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 6.6720471113
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 6.6711294989 10048152
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.4811000095
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.0715340226 16120746 12621046
MESH:D006689 Hodgkin Disease sodium arsenite 3.2712676792
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.2618606429 8697196 16959395 16354765 15340226
OMIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA marker/mechanism
MESH:D006930 Hyperalgesia Acetaminophen 2.8116870215
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 1.9518670907 18850075
MESH:D007021 Hypospadias Ethinyl Estradiol 3.9816569931 16945680
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.6112013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 6.9517937319
MESH:D007248 Infertility, Male sodium arsenite 6.9512646999 15346721
MESH:D007249 Inflammation Flavonoids 5.2217296493
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 5.2212878042 12200463
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.4816580747
MESH:D007674 Kidney Diseases Acetaminophen 6.2215629191 12587719
MESH:D007674 Kidney Diseases sodium arsenite 6.2220008137
MESH:D007676 Kidney Failure, Chronic Hydrogen Peroxide 4.4116518626
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 1.2412878042
MESH:D008107 Liver Diseases Acetaminophen 1.6616611625 11587558 19460945 16610002 19014921 12587719 12969438 19784758
MESH:D017114 Liver Failure, Acute Acetaminophen 3.3716871587 17185352
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 7.6621137059 20195826
MESH:D008113 Liver Neoplasms sodium arsenite 7.6616712894 15276417
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 7.6616984957
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 2.1912151625
MESH:D008171 Lung Diseases sodium arsenite 3.2619095001
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 3.4418816296 20869020 18520028 6695378 18569708 20135361 20464547 20064080 17053015
MESH:D008175 Lung Neoplasms sodium arsenite 3.4419931552 16712894 15276417 17306315 17077188
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 3.4411884234 19555203
MESH:D008545 Melanoma sodium arsenite 3.8619082730 16487513
MESH:D008545 Melanoma Vitamin K 3 3.8619082730
MESH:D008546 Melanoma, Experimental Acetaminophen 3.7419513568
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.3016381670
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.1312213967
MESH:D009369 Neoplasms Benzo(a)pyrene 5.2411141357
MESH:D009369 Neoplasms sodium arsenite 5.2411559025
MESH:D009374 Neoplasms, Experimental sodium arsenite 3.8420056578
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.3714600291
MESH:D009436 Neural Tube Defects sodium arsenite 3.2312854658
MESH:D019636 Neurodegenerative Diseases Acetaminophen 2.9918514411
MESH:D010051 Ovarian Neoplasms sodium arsenite 2.4715276417 17306315
MESH:D010146 Pain Acetaminophen 2.5016870215
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.8411578682
MESH:D010212 Papilloma Hydrogen Peroxide 4.2612065085
MESH:D010381 Pelger-Huet Anomaly marker/mechanism
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.4712520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.7218163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.3811118676 11399792 11222880 11896295
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 3.1517292933
MESH:D011471 Prostatic Neoplasms sodium arsenite 3.1516039940
MESH:D011537 Pruritus Ethinyl Estradiol 3.5116919318 15861022
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.0018990726
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 18.5810029692 19755658
MESH:D012878 Skin Neoplasms Hydrogen Peroxide 18.5812065085
MESH:D012878 Skin Neoplasms sodium arsenite 18.5819524636 18572023
MESH:D012878 Skin Neoplasms tert-Butylhydroperoxide 18.588532709
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 18.5816192470
MESH:D013088 Spermatocele Ethinyl Estradiol 4.1616709447
MESH:D016135 Spinal Dysraphism sodium arsenite 3.9012854658
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 1.562093021 20155912
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.7711994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.2815669648
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.1212697716
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 5.2217053015
MESH:D001749 Urinary Bladder Neoplasms sodium arsenite 5.2216712894 11723127 17306315 16452187
MESH:D014581 Urticaria Acetaminophen 3.1210982225
MESH:D002583 Uterine Cervical Neoplasms sodium arsenite 3.9011813266
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.4614692618
MESH:D014652 Vascular Diseases sodium arsenite 4.6217056641
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.8112125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.6814671159 15869587
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.4715886252
Pathway ID Pathway Name
REACT:22258 Metabolism of lipids and lipoproteins
Pharmacogenomics Knowledge Base Top
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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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