AutismKB 2.0

Annotation Detail for LMBR1


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Basic Information Top
Gene Symbol:LMBR1 ( ACHP,C7orf2,DIF14,FLJ11665,PPD2,TPT )
Gene Full Name: limb region 1 homolog (mouse)
Band: 7q36.3
Quick LinksEntrez ID:64327; OMIM: 605522; Uniprot ID:LMBR1_HUMAN; ENSEMBL ID: ENSG00000105983; HGNC ID: 13243
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
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Desease Name
Polydactyly, preaxial type II
Syndactyly, type IV
Acheiropody
Triphalangeal thumb-polysyndactyly syndrome
Triphalangeal thumb, type I
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000082 Acetaminophen Acetaminophen affects the expression of LMBR1 mRNAaffects expression 17562736
D001564 Benzo(a)pyrene Benzo(a)pyrene results in decreased expression of LMBR1 mRNAdecreases expression 20106945
C010327 salinomycin salinomycin results in decreased expression of LMBR1 mRNAdecreases expression 19682730
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in decreased expression of LMBR1 mRNAdecreases expression 17517823
D014635 Valproic Acid Valproic Acid results in increased expression of LMBR1 mRNAincreases expression 19101580
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 10.1711752688 15322242 14514962
MESH:D000014 Abnormalities, Drug-Induced Valproic Acid 10.178875741
MESH:D000015 Abnormalities, Multiple Valproic Acid 4.3019490988
MESH:C536014 Acheiropodia marker/mechanism
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 2.0520464547 20127859
MESH:D000236 Adenoma Benzo(a)pyrene 2.846695378
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.9216835633
MESH:D000550 Amblyopia Valproic Acid 5.8517688650
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.2911748828
MESH:D000799 Angioedema Acetaminophen 4.4510982225
MESH:D001008 Anxiety Disorders Valproic Acid 3.8617497229
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.5619183758
MESH:D001321 Autistic Disorder Acetaminophen 1.8618445737
MESH:D001321 Autistic Disorder Valproic Acid 1.8618558336 18775368 18316065 17157402 15238991 19460635 18985861 20603192 17688650 18396377 17507914 18177632 19232924 18940202 16609825
MESH:D001714 Bipolar Disorder Valproic Acid 3.2320046352 17594078
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.4212125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.4015340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 8.7215746008
MESH:D001848 Bone Diseases, Developmental Valproic Acid 8.728888407
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 1.9520146248 17474063
MESH:D001943 Breast Neoplasms salinomycin 1.9519682730
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.9520435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.0916835633
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 1.403084413
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 2.1320419170
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.5416120746 18850075 18670907
MESH:D002386 Cataract Acetaminophen 2.7710977129
MESH:D002659 Child Development Disorders, Pervasive Valproic Acid 2.8120734317
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.4916835633
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.2216354765 15340226 15668235 8697196 12621046
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.3814669216 17141729
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 2.5510048152 15322242 20055451
MESH:D019465 Craniofacial Abnormalities Valproic Acid 2.5517688650 8888407 16575769
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7317107852
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 6.6415968718 17906064 12392966 14550746 19085960 11743745 11421492 11739529 17522070 12594235 16081117 16485898 12705907 2444490 12958197 19164858 19739265 11529661 14986274 11287661 19416960 18713872 11461765 10774834 16781746 10663392 16177239 12153990 14725611 15619225 16393943 19420014 16227642 17562736 11834606 19370779 16109766 19923254 10915739 12540782 18071297
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 6.6420420201
MESH:D056486 Drug-Induced Liver Injury Valproic Acid 6.641733752 19641884
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.7119426721
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 3.0211462148
MESH:D004421 Dystonia Valproic Acid 4.451851702
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.7412711302 11000095
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.5115322242 16714409 18230668
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.379294722 10568697
MESH:D004831 Epilepsies, Myoclonic Valproic Acid 4.643659116 17275665
MESH:D004828 Epilepsies, Partial Valproic Acid 4.5316628512 3922381
MESH:D004827 Epilepsy Valproic Acid 3.0918234410 20417680
MESH:D004832 Epilepsy, Absence Valproic Acid 3.917562514 6426943 6254150
MESH:D017029 Epilepsy, Complex Partial Valproic Acid 4.787750514
MESH:D004830 Epilepsy, Tonic-Clonic Valproic Acid 4.603659116
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 2.0716530937
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.2711564622
MESH:D005234 Fatty Liver Valproic Acid 3.6714986274 19224547
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.9411858732
MESH:D005315 Fetal Diseases Valproic Acid 5.5016575769
MESH:D005317 Fetal Growth Retardation Valproic Acid 4.5718558336 8888407
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.4320067830
MESH:D005756 Gastritis Acetaminophen 4.2916983495
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.2110696789
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 6.9920471113
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 6.9911294989 10048152
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.7111000095
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.3715340226 16120746 12621046
MESH:D006849 Hydrocephalus Valproic Acid 5.4117688650
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.668697196 18606429 16354765 16959395 15340226
MESH:D006930 Hyperalgesia Acetaminophen 2.9916870215
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 2.0118670907 18850075
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 2.0112200463 12878042
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.7116580747
MESH:D007674 Kidney Diseases Acetaminophen 2.3812587719 15629191
MESH:D015470 Leukemia, Myeloid, Acute Valproic Acid 2.1917596541 16294345
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 1.2512878042
MESH:D008107 Liver Diseases Acetaminophen 1.6919460945 16611625 19014921 11587558 12969438 16610002 19784758 12587719
MESH:D017114 Liver Failure, Acute Acetaminophen 3.5817185352 16871587
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 4.7020195826 21137059
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 4.7016984957
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 2.3112151625
MESH:D017563 Lung Diseases, Interstitial Valproic Acid 4.8717228818
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 2.2618816296 17053015 20464547 20135361 18569708 20064080 6695378 18520028 20869020
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 2.2619555203 11884234
MESH:D008325 Mammary Neoplasms, Experimental salinomycin 3.9719682730
MESH:D008546 Melanoma, Experimental Acetaminophen 4.0519513568
MESH:D008881 Migraine Disorders Valproic Acid 3.4418765137 18803445
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.4616381670
MESH:D009139 Musculoskeletal Abnormalities Valproic Acid 4.408888407
MESH:D009190 Myelodysplastic Syndromes Valproic Acid 3.3317596541
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.3112213967
MESH:D009369 Neoplasms Benzo(a)pyrene 2.3111141357
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.6514600291
MESH:D009436 Neural Tube Defects Valproic Acid 3.3416359493 8888407
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.1818514411
MESH:D010146 Pain Acetaminophen 2.6916870215
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.8612520081
OMIM:174500 POLYDACTYLY, PREAXIAL II marker/mechanism
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 4.0018163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 11.3311896295 11222880 11118676 11399792
MESH:D011297 Prenatal Exposure Delayed Effects Valproic Acid 11.3320603192
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 2.9117292933
MESH:D019310 Pseudolymphoma Valproic Acid 5.1511422049 12752131
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.2818990726
MESH:D012208 Rhabdomyosarcoma Valproic Acid 4.5819155313
MESH:D012559 Schizophrenia Valproic Acid 2.1019110320 15737665
MESH:D012640 Seizures Valproic Acid 2.9611044598 16876388 3137016 15475178 14763951 11738929 1511512 17978042
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 5.9519755658 10029692
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 5.9516192470
MESH:D016135 Spinal Dysraphism Valproic Acid 4.0619490988
MESH:D013226 Status Epilepticus Valproic Acid 5.1512833885
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 1.562093021 20155912
OMIM:186200 SYNDACTYLY, TYPE IV marker/mechanism
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.5112697716
MESH:D014178 Translocation, Genetic Valproic Acid 5.8517262798
MESH:D020194 Unverricht-Lundborg Syndrome Valproic Acid 5.063119515
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 2.2917053015
MESH:D014564 Urogenital Abnormalities Valproic Acid 5.138888407
MESH:D014581 Urticaria Acetaminophen 3.3810982225
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.2112125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.8615886252
No data
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  (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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