AutismKB 2.0

Annotation Detail for LRRC16A


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Basic Information Top
Gene Symbol:LRRC16A ( CARMIL,CARMIL1,CARMIL1a,FLJ20048,FLJ43708,LRRC16,dJ501N12.1,dJ501N12.5 )
Gene Full Name: leucine rich repeat containing 16A
Band: 6p22.2
Quick LinksEntrez ID:55604; OMIM: 609593; Uniprot ID:LR16A_HUMAN; ENSEMBL ID: ENSG00000079691; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
No data
No data
Desease Name
HEMATOLOGICAL
serum markers of iron status
Desease Name
Serum uric acid
Serum markers of iron status
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 LRRC16A mRNAdecreases expression 19933214
D001564 Benzo(a)pyrene Benzo(a)pyrene results in decreased expression of LRRC16A 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 LRRC16A mRNAdecreases expression 19150397
20018196
D010634 Phenobarbital Phenobarbital results in increased expression of LRRC16A mRNAincreases expression 19270015
C006253 pirinixic acid pirinixic acid results in increased expression of LRRC16A mRNAincreases expression 18445702
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in decreased expression of LRRC16A mRNAdecreases expression 19933214
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Phenobarbital 9.886195326
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 9.8811752688 14514962 15322242
MESH:D055371 Acute Lung Injury pirinixic acid 3.4718653653
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 2.0420127859 20464547
MESH:D000236 Adenoma Benzo(a)pyrene 2.826695378
MESH:D018248 Adenoma, Liver Cell Phenobarbital 20.1817620307
MESH:D018248 Adenoma, Liver Cell pirinixic acid 20.1816434500
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 20.1816835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.2511748828
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.4919183758
MESH:D001778 Blood Coagulation Disorders pirinixic acid 9.8719483382
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 9.8712125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.3115340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.9515746008
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 1.8720146248 17474063
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.8720435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.0516835633
MESH:D006528 Carcinoma, Hepatocellular Phenobarbital 1.941701930 20007298 17173139 20935162 6705139
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 2.1220419170
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.5216120746 18670907 18850075
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 2.9320889678
MESH:D002493 Central Nervous System Diseases Phenobarbital 4.674080065
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.4516835633
MESH:D002779 Cholestasis pirinixic acid 3.0519176532
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.2116354765 15340226 12621046 8697196 15668235
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.3414669216 17141729
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2620055451 15322242 10048152
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5518249437
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7217107852
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 1.6020420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.9911462148
MESH:D004421 Dystonia Phenobarbital 4.361851702
MESH:D004487 Edema pirinixic acid 7.6312083418
MESH:D004487 Edema Tetrachlorodibenzodioxin 7.6311000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.4218230668 15322242 16714409
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.3310568697 9294722
MESH:D004831 Epilepsies, Myoclonic Phenobarbital 4.533659116
MESH:D004828 Epilepsies, Partial Phenobarbital 4.393922381 11558140
MESH:D004827 Epilepsy Phenobarbital 3.0320417680
MESH:D004832 Epilepsy, Absence Phenobarbital 3.836401628
MESH:D017029 Epilepsy, Complex Partial Phenobarbital 4.677750514
MESH:D004830 Epilepsy, Tonic-Clonic Phenobarbital 4.483659116
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 4.5720426865
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 4.5716530937
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.2411564622
MESH:D005234 Fatty Liver pirinixic acid 3.0920131406 19236843
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.8711858732
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.3620067830
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.1210696789
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 6.9320471113
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 6.9311294989 10048152
MESH:D006333 Heart Failure pirinixic acid 2.7120558911
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.6611000095
MESH:D006529 Hepatomegaly Phenobarbital 16.9616109766
MESH:D006529 Hepatomegaly pirinixic acid 16.9619176532 16221962 18467677 19772884
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 16.9615340226 16120746 12621046
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.5715340226 16959395 16354765 18606429 8697196
MESH:D006943 Hyperglycemia pirinixic acid 3.4920558911
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 2.0018670907 18850075
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 1.9912200463 12878042
MESH:D007333 Insulin Resistance pirinixic acid 2.8216306350
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.6616580747
MESH:D008103 Liver Cirrhosis Phenobarbital 3.0521047994
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 2.2115474484
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 2.2112878042
MESH:D008107 Liver Diseases Phenobarbital 2.2319363144
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 11.5121137059 20195826
MESH:D008113 Liver Neoplasms Phenobarbital 11.5119812893 15975961 21047994 19482888 8742319 19073162
MESH:D008113 Liver Neoplasms pirinixic acid 11.5120007298 15890375 16377806
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 11.5116984957
MESH:D008114 Liver Neoplasms, Experimental Phenobarbital 6.4017172636 6150874 1399818 2563599 18308698
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 6.4012151625
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 2.2518520028 20464547 18816296 17053015 20064080 6695378 20869020 18569708 20135361
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 2.2511884234 19555203
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.4316381670
MESH:D009135 Muscular Diseases pirinixic acid 3.9216239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.2519151258
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.2712213967
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.1916411023
MESH:D020191 Myoclonic Epilepsies, Progressive Phenobarbital 4.9417484760
MESH:D009369 Neoplasms Benzo(a)pyrene 5.2811141357
MESH:D009369 Neoplasms pirinixic acid 5.2817405874
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.5914600291
MESH:D009765 Obesity pirinixic acid 1.8720558911
MESH:D010018 Osteomalacia Phenobarbital 4.8317016548
MESH:D010190 Pancreatic Neoplasms Phenobarbital 2.5816965848
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.7712520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.9418163543
MESH:D011230 Precancerous Conditions Phenobarbital 3.912563599
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.6511896295 11118676 11399792 11222880
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 2.9217292933
MESH:D019310 Pseudolymphoma Phenobarbital 5.0212752131
MESH:D015427 Reperfusion Injury pirinixic acid 2.5219058328
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.2218990726
MESH:D012640 Seizures Phenobarbital 2.894039156 3137016 11442880 16876388
MESH:D003294 Seizures, Febrile Phenobarbital 5.286407741
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 5.9019755658 10029692
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 5.9016192470
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 1.562093021 20155912
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.4212697716
MESH:D013964 Thyroid Neoplasms Phenobarbital 3.291399818
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 2.2817053015
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.1212125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.7715886252
Pathway ID Pathway Name
REACT:604 Hemostasis
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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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