AutismKB 2.0

Annotation Detail for ADAMTSL4


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Basic Information Top
Gene Symbol:ADAMTSL4 ( TSRC1 )
Gene Full Name: ADAMTS-like 4
Band: 1q21.2
Quick LinksEntrez ID:54507; OMIM: 610113; Uniprot ID:ATL4_HUMAN; ENSEMBL ID: ENSG00000143382; HGNC ID: 19706
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
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Desease Name
Ectopia lentis, isolated, autosomal recessive
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D001564 Benzo(a)pyrene Benzo(a)pyrene results in decreased expression of ADAMTSL4 mRNAdecreases expression 20106945
D001564 Benzo(a)pyrene Benzo(a)pyrene results in decreased expression of ADAMTSL4 mRNAdecreases expression 20127859
D002251 Carbon Tetrachloride Carbon Tetrachloride affects the expression of ADAMTSL4 mRNAaffects expression 17484886
D002995 Clofibric Acid [Diethylnitrosamine co-treated with Clofibric Acid] affects the expression of ADAMTSL4 mRNAaffects cotreatment|affects expression 17602206
D016572 Cyclosporine Cyclosporine results in decreased expression of ADAMTSL4 mRNAdecreases expression 20106945
D004052 Diethylnitrosamine [Diethylnitrosamine co-treated with Clofibric Acid] affects the expression of ADAMTSL4 mRNAaffects cotreatment|affects expression 17602206
D004997 Ethinyl Estradiol Ethinyl Estradiol affects the expression of ADAMTSL4 mRNAaffects expression 17555576
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in decreased expression of ADAMTSL4 mRNAaffects binding|decreases expression|increases activity 19710929
D013629 Tamoxifen Tamoxifen affects the expression of ADAMTSL4 mRNAaffects expression 17555576
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in decreased expression of ADAMTSL4 mRNAdecreases expression 20106945
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in decreased expression of ADAMTSL4 mRNAdecreases expression 18796159
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000008 Abdominal Neoplasms Tamoxifen 4.8714745880
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.1311752688 14514962 15322242
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.2617505938
MESH:D055371 Acute Lung Injury pirinixic acid 3.3418653653
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 4.3220464547 20127859
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 4.3214692618
MESH:D000236 Adenoma Benzo(a)pyrene 7.006695378
MESH:D000236 Adenoma Diethylnitrosamine 7.0010737359 6695378
MESH:D018248 Adenoma, Liver Cell Diethylnitrosamine 19.0319052882 19061943 17162532 16434500 17620307 18056438
MESH:D018248 Adenoma, Liver Cell pirinixic acid 19.0316434500
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 19.0316835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.1411748828
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.3319183758
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.7211256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.7815885639
MESH:D001778 Blood Coagulation Disorders pirinixic acid 9.4619483382
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 9.4612125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.1115340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.8915746008
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 1.9420146248 17474063
MESH:D001943 Breast Neoplasms Diethylnitrosamine 1.9417474063
MESH:D001943 Breast Neoplasms Tamoxifen 1.9419221464 11161223 20390343 19059307 19189210 18855134 19155303 16202921 15565566 20135344 20544844 19103187 18815881 16273361 19115204 19142967 19084267 18351453 17893378 19410462 19288272 18821012 15668708 18997820 19200415 17440819 17261762 19244106 19011961 19289846 18629630 16818667 20859285 17049068 19189212 19487384 21152245 19066611 17242785 18425577 16873071 20005174 18984771 21138602 20065188
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.9420435547
MESH:D002252 Carbon Tetrachloride Poisoning Carbon Tetrachloride 4.0416192424 15700767 16124888 3786805 16050911 16227642 16011737 15673190 16097048 15721981 18705752 10355542
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.9616835633
MESH:D018270 Carcinoma, Ductal, Breast Tamoxifen 4.7619066611
MESH:D006528 Carcinoma, Hepatocellular Carbon Tetrachloride 4.7418788625
MESH:D006528 Carcinoma, Hepatocellular Diethylnitrosamine 4.7419519916 19171122 3581430 17138121 3084413 17055752 20007298 20514400 20524982 10672840 18210153 16502159 20935162 16288022 19701751 17173139 19539802 16878318 19335982 18506893 16807293 19919837 19394651 18788625 20084675 17978847 17428255 17761372 18785209 18494052 18393292 16779866 19052882 18978308 18971187 18691550 20432363 19208518 19107877 18056438 10737359 20512989 21159647 18665156 20214788 16328049 20101231 19822196 16698587 19418558 19383236 16569478 16681979 16935385 20727157 11831363 16540662 16830150 17162532
MESH:D006528 Carcinoma, Hepatocellular Tamoxifen 4.7416924424
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 2.1020419170
MESH:D002295 Carcinoma, Transitional Cell Tamoxifen 3.8117572228
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.4718670907 18850075 16120746
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 7.0612371664
MESH:D002471 Cell Transformation, Neoplastic Diethylnitrosamine 7.062727394 21159647 17174075 7505956
MESH:D018281 Cholangiocarcinoma Diethylnitrosamine 9.9419052882
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 9.9416835633
MESH:D002779 Cholestasis Cyclosporine 14.2319486331
MESH:D002779 Cholestasis Ethinyl Estradiol 14.2317333356 17110522 16105132 15861022 11677210 16919318 17681005
MESH:D002779 Cholestasis pirinixic acid 14.2319176532
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.1815668235 8697196 16354765 15340226 12621046
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.2417141729 14669216
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2620055451 15322242 10048152
MESH:D003711 Demyelinating Diseases Tamoxifen 4.6219031437
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5118249437
MESH:D003924 Diabetes Mellitus, Type 2 Diethylnitrosamine 4.3620387270
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 4.3617107852
MESH:D003928 Diabetic Nephropathies Tamoxifen 3.6619279558
MESH:D056486 Drug-Induced Liver Injury Carbon Tetrachloride 6.5019336974 16227642 11566570 4309450 10092053 7440962 15027814 9327722 7179309 15998439 21278145 7120509 2869522 3732212 6884620 6623471 15968718 19085960 17522070 3786805 16177239 10915739
MESH:D056486 Drug-Induced Liver Injury Diethylnitrosamine 6.5019107877
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 6.5020420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.9111462148
OMIM:225100 ECTOPIA LENTIS, ISOLATED, AUTOSOMAL RECESSIVE marker/mechanism
MESH:D004487 Edema pirinixic acid 7.2312083418
MESH:D004487 Edema Tetrachlorodibenzodioxin 7.2311000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.2218230668 15322242 16714409
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 9.7512538720
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Tamoxifen 9.7519031437
MESH:D016889 Endometrial Neoplasms Tamoxifen 3.1719155303 16202921 20544844 17893378
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.2110568697 9294722
MESH:D004931 Esophageal Achalasia Diethylnitrosamine 5.4416302075
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 2.0516530937
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.1611564622
MESH:D005234 Fatty Liver Carbon Tetrachloride 33.7112795759 61145 15959796 16239168 17595544 19224547 16045604 12631006
MESH:D005234 Fatty Liver Cyclosporine 33.7119224547
MESH:D005234 Fatty Liver Diethylnitrosamine 33.7120387270 21071580
MESH:D005234 Fatty Liver Ethinyl Estradiol 33.7115345470
MESH:D005234 Fatty Liver pirinixic acid 33.7120131406 19236843
MESH:D005234 Fatty Liver Tamoxifen 33.7119224547 14986274
MESH:D052776 Female Urogenital Diseases Tamoxifen 3.3516709447
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.7111858732
MESH:D018221 Fibromatosis, Abdominal Tamoxifen 4.8114745880
MESH:D018222 Fibromatosis, Aggressive Tamoxifen 4.4719069698
MESH:D005355 Fibrosis Carbon Tetrachloride 16.2918705752
MESH:D005355 Fibrosis Cyclosporine 16.2912639820 12168785
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 16.2920067830
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.508708960
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.9110696789
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 6.7720471113
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 6.7711294989 10048152
MESH:D006333 Heart Failure pirinixic acid 2.6520558911
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.7115720958
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.5411000095
MESH:D006505 Hepatitis Carbon Tetrachloride 3.8319900420 19110552
MESH:D006529 Hepatomegaly pirinixic acid 9.1419772884 18467677 16221962 19176532
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 9.1415340226 12621046 16120746
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.3616354765 18606429 16959395 15340226 8697196
MESH:D006932 Hyperbilirubinemia Carbon Tetrachloride 4.8216899240
MESH:D006943 Hyperglycemia pirinixic acid 3.3820558911
MESH:D006973 Hypertension Cyclosporine 5.1710903974
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 5.1718670907 18850075
MESH:D006975 Hypertension, Portal Carbon Tetrachloride 4.3515338365
MESH:D007021 Hypospadias Ethinyl Estradiol 4.0716945680 16569931
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.6812013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.6217937319
MESH:D007249 Inflammation Diethylnitrosamine 8.8418785209
MESH:D007249 Inflammation Tamoxifen 8.8419457130
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 8.8412200463 12878042
MESH:D007333 Insulin Resistance pirinixic acid 2.7616306350
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.5416580747
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.7615604871
MESH:D007674 Kidney Diseases Cyclosporine 2.448314463 10903974 18776723
MESH:D007680 Kidney Neoplasms Cyclosporine 7.8812371664
MESH:D007680 Kidney Neoplasms Tamoxifen 7.8818625569
MESH:D008064 Lipidoses Tamoxifen 3.3017567588 15342952
MESH:D008103 Liver Cirrhosis Carbon Tetrachloride 6.9516239168 16943688 11408273 21278145 16221502 17157831 17334410 17174718 11903743
MESH:D008103 Liver Cirrhosis Diethylnitrosamine 6.9520032147 18407596 18522880 19638242 18665156
MESH:D008106 Liver Cirrhosis, Experimental Carbon Tetrachloride 5.0918412020 15057751 14748882 16015684 17805973 17565644 18054572 18481824 12632514 12666154 12898905 16097048 17481882 18166357 17869086 14724832 18472332 17823541 14620537 15650968 17557913 15052691 15673190 17944888 15931870 16033810 12649538 14716496 12546737 17900296 15730626 15893842 18472094 20821823 17698563 18317297 18006644 18705752 18277467 11481614 18395914 16116963 16638106 17631135 17922224 18251166 18210741 18156304 14512876 18339082 16248980 18263696 15370692 18418968 12445418 16192424 15925388 18376398 16136751 15876570 12389079 15818738 15338365 16027843 13678700 12632512 16011737 15996030 17766677 17721639 12445421 18395095 15123356 12958196 17714472 18420326 18279442 15959796 18429990 12741479 18205269 12667390 17640975 17976157 14716833 15362042 10355542 12586293 17708605 12609069 18187930 17761835 17525996
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 5.0915474484
MESH:D008106 Liver Cirrhosis, Experimental Tamoxifen 5.0918564211
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 5.0912878042
MESH:D008107 Liver Diseases Carbon Tetrachloride 4.2215830285 16964402 15720792 17285989 16246199
MESH:D008107 Liver Diseases Diethylnitrosamine 4.2217034775
MESH:D017093 Liver Failure Carbon Tetrachloride 4.4215123358
MESH:D017114 Liver Failure, Acute Carbon Tetrachloride 3.8816899240 14706259
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 23.0020195826 21137059
MESH:D008113 Liver Neoplasms Carbon Tetrachloride 23.0019294768
MESH:D008113 Liver Neoplasms Clofibric Acid 23.0017602206
MESH:D008113 Liver Neoplasms Diethylnitrosamine 23.0020101389 19427195 21167192 19256749 20501860 19426721 20434301 18754104 15885732 18644402 15175105 19833225 19255062 9163691 19090486 16942905 20583210 10737359 19294768 20492335 19073162 20405173 21071580 21047994 18648771 12112319 19551842 19690152 19850985 19638242 20118626 20452335 19254457 20137499 19642983 19812893 18978307 12771043 19996281 19499222 2422723 21278145 18977376 2862719
MESH:D008113 Liver Neoplasms pirinixic acid 23.0020007298 15890375 16377806
MESH:D008113 Liver Neoplasms Tamoxifen 23.0016684651
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 23.0016984957
MESH:D008114 Liver Neoplasms, Experimental Carbon Tetrachloride 10.5112014681 15583823
MESH:D008114 Liver Neoplasms, Experimental Diethylnitrosamine 10.5118164116 18079962 19126423 18544905 18093689 18775883 3124819 19539802 18253720 16267830 17942915 19009564 18282651 17854601 19519916 16842330 19004024 21159647 18308698 2563599 17174075 9362446
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 10.5112151625
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 4.9820135361 20064080 18520028 18816296 6695378 20869020 17053015 18569708 20464547
MESH:D008175 Lung Neoplasms Diethylnitrosamine 4.9821163286 20970405 20512841 6695378
MESH:D008175 Lung Neoplasms Tamoxifen 4.9818625569
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 4.9819555203 11884234
MESH:D015674 Mammary Neoplasms, Animal Tamoxifen 4.0419428831
MESH:D008325 Mammary Neoplasms, Experimental Tamoxifen 2.7411731420 19196723 14580682 19196722 16827153
MESH:D020149 Manganese Poisoning Tamoxifen 4.8719453300
MESH:D008545 Melanoma Tamoxifen 1.9019393235 12393984
MESH:D018328 Melanoma, Amelanotic Tamoxifen 4.4715990972
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.1116801185
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.3516381670
MESH:D009135 Muscular Diseases pirinixic acid 3.7616239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.2119151258
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.1812213967
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.1016411023
MESH:D009362 Neoplasm Metastasis Diethylnitrosamine 5.979029167 3581430
MESH:D009362 Neoplasm Metastasis Tamoxifen 5.9719393235
MESH:D009364 Neoplasm Recurrence, Local Tamoxifen 2.5719410462
MESH:D009369 Neoplasms Benzo(a)pyrene 5.1311141357
MESH:D009369 Neoplasms pirinixic acid 5.1317405874
MESH:D009376 Neoplasms, Hormone-Dependent Tamoxifen 4.3219200415 19189210 19196722
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.7617954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.4719348381 18481113
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.4514600291
MESH:D019636 Neurodegenerative Diseases Diethylnitrosamine 3.5120387270
MESH:D009461 Neurologic Manifestations Diethylnitrosamine 5.4420387270
MESH:D009765 Obesity pirinixic acid 1.8520558911
MESH:D010190 Pancreatic Neoplasms Diethylnitrosamine 2.4816540662
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.9111578682
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.5712520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.8018163543
MESH:D011230 Precancerous Conditions Cyclosporine 9.5612371664
MESH:D011230 Precancerous Conditions Diethylnitrosamine 9.562563599
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.4811399792 11896295 11222880 11118676
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 3.0817292933
MESH:D011471 Prostatic Neoplasms Tamoxifen 3.0815067354
MESH:D011537 Pruritus Ethinyl Estradiol 3.6016919318 15861022
MESH:D011565 Psoriasis Cyclosporine 2.2916882103
MESH:D015427 Reperfusion Injury pirinixic acid 2.4719058328
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.0818990726
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 5.7619755658 10029692
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 5.7616192470
MESH:D013088 Spermatocele Ethinyl Estradiol 12.6516709447
MESH:D013088 Spermatocele Tamoxifen 12.6516709447
MESH:D013119 Spinal Cord Injuries Tamoxifen 4.3219457130
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 2.3720155912 2093021
MESH:D013274 Stomach Neoplasms Diethylnitrosamine 2.3718456281
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.8411994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.3315669648
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.2212697716
MESH:D013964 Thyroid Neoplasms Diethylnitrosamine 3.147505956
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 5.2317053015
MESH:D001749 Urinary Bladder Neoplasms Tamoxifen 5.238653321 17572228 16712894
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.5414692618
MESH:D014605 Uveitis Cyclosporine 4.301336536
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.9112125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.7515869587 14671159
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.5715886252
MESH:D014985 Xerophthalmia Cyclosporine 4.7617120751
No data
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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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