AutismKB 2.0

Annotation Detail for LRRC8D


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Basic Information Top
Gene Symbol:LRRC8D ( FLJ10470,FLJ20403,LRRC5 )
Gene Full Name: leucine rich repeat containing 8 family, member D
Band: 1p22.2
Quick LinksEntrez ID:55144; OMIM: 612890; Uniprot ID:LRC8D_HUMAN; ENSEMBL ID: ENSG00000171492; HGNC ID: 16992
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
Desease IDDesease Name
H00085Agammaglobulinemias
Immune system diseases
Primary immunodeficiency
No data
No data
No data
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 increased expression of LRRC8D mRNAincreases expression 19933214
C010914 2,4-diaminotoluene 2,4-diaminotoluene results in increased expression of LRRC8D mRNAincreases expression 20713471
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene affects the expression of LRRC8D mRNAaffects expression 21346803
D000082 Acetaminophen Acetaminophen affects the expression of LRRC8D mRNAaffects expression 17562736
D001564 Benzo(a)pyrene Benzo(a)pyrene results in increased expression of LRRC8D mRNAincreases expression 20713471
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 LRRC8D mRNAdecreases expression 19150397
20382639
D016572 Cyclosporine Cyclosporine results in increased expression of LRRC8D mRNAincreases expression 20106945
D004958 Estradiol [Progesterone co-treated with Estradiol] results in decreased expression of LRRC8D mRNAaffects cotreatment|decreases expression 17404688
D008748 Methylcholanthrene Methylcholanthrene results in increased expression of LRRC8D mRNAincreases expression 20713471
D010634 Phenobarbital Phenobarbital results in increased expression of LRRC8D mRNAincreases expression 19270015
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in decreased expression of LRRC8D mRNAaffects binding|decreases expression|increases activity 19710929
D011374 Progesterone [Progesterone co-treated with Estradiol] results in decreased expression of LRRC8D mRNAaffects cotreatment|decreases expression 17404688
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of LRRC8D mRNAincreases expression 19933214
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Phenobarbital 8.696195326
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 8.6915322242 14514962 11752688
MESH:D055371 Acute Lung Injury pirinixic acid 3.2018653653
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 4.3420127859 20464547
MESH:D000230 Adenocarcinoma Estradiol 4.3411473722
MESH:D000236 Adenoma Benzo(a)pyrene 7.026695378
MESH:D000236 Adenoma Methylcholanthrene 7.0210545420 6695378
MESH:D018248 Adenoma, Liver Cell Phenobarbital 18.0017620307
MESH:D018248 Adenoma, Liver Cell pirinixic acid 18.0016434500
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 18.0016835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.0211748828
MESH:D000799 Angioedema Acetaminophen 3.9810982225
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.1819183758
MESH:D050197 Atherosclerosis Methylcholanthrene 3.5011922910
MESH:D001321 Autistic Disorder Acetaminophen 1.4118445737
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:D020201 Brain Hemorrhage, Traumatic Progesterone 5.4717868700
MESH:D001930 Brain Injuries Progesterone 4.3615665606 15845082 15380490
MESH:D001943 Breast Neoplasms 2,4-diaminotoluene 3.0011921183
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 3.0017474063 20146248
MESH:D001943 Breast Neoplasms Estradiol 3.0016675129 17289903 19861407 12948864 18497071 14630087 17018787 17261762
MESH:D001943 Breast Neoplasms Methylcholanthrene 3.0017474063
MESH:D001943 Breast Neoplasms Progesterone 3.0016175315 15562024 17614352
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 3.0020435547
MESH:D002181 Candidiasis, Vulvovaginal Estradiol 4.5816111702
MESH:D002277 Carcinoma Methylcholanthrene 8.5510545420
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 8.5516835633
MESH:D006528 Carcinoma, Hepatocellular 2,6-dinitrotoluene 6.6516705839
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 6.653084413
MESH:D006528 Carcinoma, Hepatocellular Estradiol 6.6516924424
MESH:D006528 Carcinoma, Hepatocellular Phenobarbital 6.6517173139 20007298 20935162 6705139 1701930
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 2.0720419170
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.4116120746 18670907 18850075
MESH:D002386 Cataract Acetaminophen 2.6310977129
MESH:D002471 Cell Transformation, Neoplastic 2,6-dinitrotoluene 21.716135515
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 21.7120889678
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 21.7112371664
MESH:D002471 Cell Transformation, Neoplastic Estradiol 21.7118566989
MESH:D002471 Cell Transformation, Neoplastic Methylcholanthrene 21.7116192471
MESH:D002493 Central Nervous System Diseases Phenobarbital 4.364080065
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.2316835633
MESH:D002779 Cholestasis Cyclosporine 7.9619486331
MESH:D002779 Cholestasis pirinixic acid 7.9619176532
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.1312621046 8697196 16354765 15340226 15668235
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.1314669216 17141729
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2610048152 15322242 20055451
MESH:D003490 Cyanosis 2,6-dinitrotoluene 4.1218551238
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.4618249437
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.6817107852
MESH:D003928 Diabetic Nephropathies Estradiol 3.4819279558
MESH:D003929 Diabetic Neuropathies Progesterone 4.6017187935
MESH:D056486 Drug-Induced Liver Injury 2,6-dinitrotoluene 6.2418551238 21346803
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 6.2416485898 12958197 18713872 16227642 16393943 16081117 12594235 11287661 11739529 19739265 12392966 15619225 19370779 16109766 12153990 11421492 18071297 11834606 19420014 19416960 12540782 14725611 10774834 16781746 2444490 19085960 11529661 15968718 17562736 11461765 19923254 17522070 10663392 10915739 11743745 14986274 14550746 16177239 19164858 17906064 12705907
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 6.2420420201
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.2319426721
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.8211462148
MESH:D004421 Dystonia Phenobarbital 4.091851702
MESH:D004487 Edema pirinixic acid 6.8112083418
MESH:D004487 Edema Tetrachlorodibenzodioxin 6.8111000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.0415322242 16714409 18230668
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Progesterone 3.8717692515
MESH:D016889 Endometrial Neoplasms Estradiol 3.0311473722 19148513 18566989
MESH:D004715 Endometriosis Progesterone 9.1916134523
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 9.1910568697 9294722
MESH:D004831 Epilepsies, Myoclonic Phenobarbital 4.213659116
MESH:D004828 Epilepsies, Partial Phenobarbital 4.003922381 11558140
MESH:D004827 Epilepsy Phenobarbital 2.9320417680
MESH:D004832 Epilepsy, Absence Phenobarbital 3.616401628
MESH:D017029 Epilepsy, Complex Partial Phenobarbital 4.367750514
MESH:D004830 Epilepsy, Tonic-Clonic Phenobarbital 4.143659116
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 4.4120426865
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 4.4116530937
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.0711564622
MESH:D005234 Fatty Liver Cyclosporine 7.8319224547
MESH:D005234 Fatty Liver pirinixic acid 7.8319236843 20131406
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.5611858732
MESH:D005354 Fibrosarcoma Methylcholanthrene 5.0610962813 14633661
MESH:D005355 Fibrosis Cyclosporine 8.8312168785 12639820
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 8.8320067830
MESH:D005756 Gastritis Acetaminophen 3.8116983495
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 Phenobarbital 15.0116109766
MESH:D006529 Hepatomegaly pirinixic acid 15.0119772884 16221962 19176532 18467677
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 15.0115340226 12621046 16120746
MESH:D006558 Herpes Genitalis Estradiol 5.1715709030
MESH:D019584 Hot Flashes Estradiol 3.8917088409
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.188697196 16959395 15340226 18606429 16354765
MESH:D006930 Hyperalgesia Acetaminophen 2.7616870215
MESH:D006943 Hyperglycemia pirinixic acid 3.2620558911
MESH:D006973 Hypertension Cyclosporine 5.0410903974
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 5.0418670907 18850075
MESH:D020244 Infarction, Middle Cerebral Artery Progesterone 4.5115869954
MESH:D007249 Inflammation Progesterone 5.1115869954
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 5.1112878042 12200463
MESH:D007333 Insulin Resistance Estradiol 7.3716393666 16627594
MESH:D007333 Insulin Resistance pirinixic acid 7.3716306350
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.4216580747
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.5815604871
MESH:D007674 Kidney Diseases Acetaminophen 10.2412587719 15629191
MESH:D007674 Kidney Diseases Cyclosporine 10.248314463 10903974 18776723
MESH:D007674 Kidney Diseases Estradiol 10.2415618244
MESH:D007680 Kidney Neoplasms 2,6-dinitrotoluene 12.7716705839
MESH:D007680 Kidney Neoplasms Cyclosporine 12.7712371664
MESH:D007680 Kidney Neoplasms Estradiol 12.7715610895
MESH:D008103 Liver Cirrhosis Phenobarbital 2.9421047994
MESH:D008106 Liver Cirrhosis, Experimental Estradiol 3.4214716833 14659978
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 3.4215474484
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 3.4212878042
MESH:D008107 Liver Diseases Acetaminophen 3.9919460945 16611625 12969438 16610002 19014921 11587558 19784758 12587719
MESH:D008107 Liver Diseases Phenobarbital 3.9919363144
MESH:D017114 Liver Failure, Acute Acetaminophen 3.3116871587 17185352
MESH:D008113 Liver Neoplasms 2,6-dinitrotoluene 14.547678174
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 14.5421137059 20195826
MESH:D008113 Liver Neoplasms Phenobarbital 14.5419073162 19812893 19482888 21047994 8742319 15975961
MESH:D008113 Liver Neoplasms pirinixic acid 14.5420007298 16377806 15890375
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 14.5416984957
MESH:D008114 Liver Neoplasms, Experimental 2,6-dinitrotoluene 14.552876784 6135515 2876786
MESH:D008114 Liver Neoplasms, Experimental Methylcholanthrene 14.55598648 1399818
MESH:D008114 Liver Neoplasms, Experimental Phenobarbital 14.552563599 17172636 6150874 18308698 1399818
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 14.5512151625
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 3.4818569708 18816296 18520028 20464547 17053015 6695378 20869020 20064080 20135361
MESH:D008175 Lung Neoplasms Methylcholanthrene 3.4820970405 17909032 1399818 6695378 16271038 20512841 15390079 10545420 16337739 11893704 9230183 21163286 7750092
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 3.4811884234 19555203
MESH:D008325 Mammary Neoplasms, Experimental 2,4-diaminotoluene 10.4011921183
MESH:D008325 Mammary Neoplasms, Experimental Estradiol 10.4016891317 11807958 17203775 11408345
MESH:D008325 Mammary Neoplasms, Experimental Progesterone 10.4017203775 11408345
MESH:D020149 Manganese Poisoning Estradiol 4.6219453300
MESH:D008546 Melanoma, Experimental Acetaminophen 3.6719513568
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 Tetrachlorodibenzodioxin 3.0812213967
MESH:D015428 Myocardial Reperfusion Injury Estradiol 8.4616810080
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 8.4616411023
MESH:D020191 Myoclonic Epilepsies, Progressive Phenobarbital 4.5917484760
MESH:D009336 Necrosis 2,6-dinitrotoluene 3.987678174 18551238
MESH:D009369 Neoplasms Benzo(a)pyrene 4.9511141357
MESH:D009369 Neoplasms pirinixic acid 4.9517405874
MESH:D009389 Neovascularization, Pathologic Estradiol 3.8517289903
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.5817954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.3619348381 18481113
MESH:D009421 Nervous System Malformations Estradiol 9.7811399458 16427766
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 9.7814600291
MESH:D019636 Neurodegenerative Diseases Acetaminophen 2.9418514411
MESH:D009765 Obesity pirinixic acid 1.8320558911
MESH:D009784 Occupational Diseases 2,6-dinitrotoluene 3.5116049721
MESH:D010018 Osteomalacia Phenobarbital 4.4817016548
MESH:D010051 Ovarian Neoplasms Estradiol 4.9519401270
MESH:D010051 Ovarian Neoplasms Progesterone 4.9517393432 16525653
MESH:D010146 Pain Acetaminophen 2.4616870215
MESH:D010190 Pancreatic Neoplasms Phenobarbital 2.5216965848
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.3812520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.6518163543
MESH:D011230 Precancerous Conditions Cyclosporine 9.2112371664
MESH:D011230 Precancerous Conditions Phenobarbital 9.212563599
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.3111399792 11118676 11222880 11896295
MESH:D019048 Prostatic Intraepithelial Neoplasia Estradiol 3.9720887781
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 3.0917292933
MESH:D011471 Prostatic Neoplasms Estradiol 3.0916740699
MESH:D019310 Pseudolymphoma Phenobarbital 4.6312752131
MESH:D011565 Psoriasis Cyclosporine 2.2516882103
MESH:D015427 Reperfusion Injury pirinixic acid 2.4219058328
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 3.9318990726
MESH:D012468 Salivary Gland Neoplasms Progesterone 2.8818045962
MESH:D012640 Seizures 2,6-dinitrotoluene 6.1118551238
MESH:D012640 Seizures Phenobarbital 6.113137016 4039156 11442880 16876388
MESH:D003294 Seizures, Febrile Phenobarbital 4.946407741
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 5.5919755658 10029692
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 5.5916192470
MESH:D013119 Spinal Cord Injuries Progesterone 4.4016503802 15862959
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 1.562093021 20155912
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.0412697716
MESH:D013964 Thyroid Neoplasms Phenobarbital 3.111399818
MESH:D013978 Tibial Fractures Estradiol 4.8219048282
MESH:D001749 Urinary Bladder Neoplasms 2,6-dinitrotoluene 5.0716049721
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 5.0717053015
MESH:D014571 Urologic Neoplasms 2,6-dinitrotoluene 4.4310091137
MESH:D014581 Urticaria Acetaminophen 3.0610982225
MESH:D014605 Uveitis Cyclosporine 4.121336536
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.7312125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.3815886252
MESH:D014985 Xerophthalmia Cyclosporine 4.5817120751
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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