AutismKB 2.0

Annotation Detail for CLN3


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Basic Information Top
Gene Symbol:CLN3 ( BTS,JNCL,MGC102840 )
Gene Full Name: ceroid-lipofuscinosis, neuronal 3
Band: 16p12.1
Quick LinksEntrez ID:1201; OMIM: 607042; Uniprot ID:CLN3_HUMAN; ENSEMBL ID: ENSG00000188603; HGNC ID: 2074
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
Desease IDDesease Name
Lysosomal storage diseases
H00149Neuronal ceroid lipofuscinosis
Genetic disorders
Desease IDDesease Name
2062Neurodegenerative disorder
Desease Name
IMMUNE
inflammatory bowel disease (early onset)
No data
Desease Name
Ceroid-lipofuscinosis, neuronal-3, juvenile
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C009505 4,4'-diaminodiphenylmethane 4,4'-diaminodiphenylmethane results in increased expression of CLN3 mRNAincreases expression 18648102
D001564 Benzo(a)pyrene Benzo(a)pyrene results in decreased expression of CLN3 mRNAdecreases expression 20106945
D020122 tert-Butylhydroperoxide tert-Butylhydroperoxide results in decreased expression of CLN3 mRNAdecreases expression 15336504
D002251 Carbon Tetrachloride Carbon Tetrachloride results in decreased expression of CLN3 mRNAdecreases expression 17484886
D016572 Cyclosporine Cyclosporine results in decreased expression of CLN3 mRNAdecreases expression 20106945
D008727 Methotrexate CLN3 protein affects the susceptibility to Methotrexateaffects response to substance 16217747
D012643 Selenium [Selenium co-treated with Vitamin E] results in increased expression of CLN3 mRNAaffects cotreatment|increases expression 19244175
D012643 Selenium Selenium results in increased expression of CLN3 mRNAincreases expression 19244175
D014810 Vitamin E [Selenium co-treated with Vitamin E] results in increased expression of CLN3 mRNAaffects cotreatment|increases expression 19244175
D014810 Vitamin E Vitamin E results in increased expression of CLN3 mRNAincreases expression 19244175
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Methotrexate 4.5812039119
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 2.0320127859 20464547
MESH:D000236 Adenoma 4,4'-diaminodiphenylmethane 7.023712494
MESH:D000236 Adenoma Benzo(a)pyrene 7.026695378
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.3819183758
MESH:D001172 Arthritis, Rheumatoid Methotrexate 3.1417286800
MESH:D001660 Biliary Tract Diseases 4,4'-diaminodiphenylmethane 5.4011289319 1440618
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 2.3917474063 20146248
MESH:D001943 Breast Neoplasms Methotrexate 2.3916978400
MESH:D002252 Carbon Tetrachloride Poisoning Carbon Tetrachloride 10.9818705752 15700767 16097048 15673190 16192424 15721981 16011737 16227642 16124888 3786805 16050911 10355542
MESH:D002252 Carbon Tetrachloride Poisoning Vitamin E 10.9816050911
MESH:D006528 Carcinoma, Hepatocellular 4,4'-diaminodiphenylmethane 3.073581430 7296757
MESH:D006528 Carcinoma, Hepatocellular Carbon Tetrachloride 3.0718788625
MESH:D002292 Carcinoma, Renal Cell 4,4'-diaminodiphenylmethane 2.777296757
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 2.1020419170
MESH:D002471 Cell Transformation, Neoplastic 4,4'-diaminodiphenylmethane 7.107505956
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 7.1012371664
MESH:C537949 Ceroid lipofuscinosis, neuronal 3, Juvenile marker/mechanism
MESH:D002779 Cholestasis 4,4'-diaminodiphenylmethane 8.479022650 19486331
MESH:D002779 Cholestasis Cyclosporine 8.4719486331
MESH:D003092 Colitis Selenium 4.0917936198
MESH:D019465 Craniofacial Abnormalities Methotrexate 3.059562676 12039119
MESH:D019465 Craniofacial Abnormalities Vitamin E 3.0519769572
MESH:D003550 Cystic Fibrosis Methotrexate 4.4719747007
MESH:D017449 Dermatitis, Allergic Contact 4,4'-diaminodiphenylmethane 3.1012868966 18759878 2524372 11906362 8970840 8156756 11298694 14531868
MESH:D003877 Dermatitis, Contact 4,4'-diaminodiphenylmethane 3.753621924 2952479
MESH:D003882 Dermatomyositis Methotrexate 5.4120191521
MESH:D056486 Drug-Induced Liver Injury 4,4'-diaminodiphenylmethane 6.627440962 1440618 18648102 9328219 9022650 18289764 8291058 9653073 6482804 18692083 11289319 6679447 16192314
MESH:D056486 Drug-Induced Liver Injury Carbon Tetrachloride 6.6210092053 10915739 15027814 7440962 7179309 2869522 11566570 21278145 6884620 17522070 19336974 15968718 3786805 4309450 6623471 9327722 15998439 19085960 3732212 16177239 16227642 7120509
MESH:D056486 Drug-Induced Liver Injury Selenium 6.6215131321
MESH:C538011 Eales disease Vitamin E 5.089068938
MESH:D004938 Esophageal Neoplasms 4,4'-diaminodiphenylmethane 4.533581430
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 4.5316530937
MESH:D005234 Fatty Liver Carbon Tetrachloride 8.5317595544 19224547 12795759 61145 15959796 16239168 16045604 12631006
MESH:D005234 Fatty Liver Cyclosporine 8.5319224547
MESH:D005350 Fibroma 4,4'-diaminodiphenylmethane 5.406705139
MESH:D005355 Fibrosis Carbon Tetrachloride 9.7118705752
MESH:D005355 Fibrosis Cyclosporine 9.7112639820 12168785
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.568708960
MESH:D006042 Goiter 4,4'-diaminodiphenylmethane 4.307505956
MESH:D006086 Graft vs Host Disease Methotrexate 5.4516518429
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 7.0720471113
MESH:D006330 Heart Defects, Congenital Vitamin E 7.0716080930
MESH:D006333 Heart Failure Selenium 3.2117162251
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.7615720958
MESH:D006505 Hepatitis 4,4'-diaminodiphenylmethane 10.186705139
MESH:D006505 Hepatitis Carbon Tetrachloride 10.1819900420 19110552
MESH:D006548 Hernia, Diaphragmatic Vitamin E 2.7716490937 16863852
MESH:D019584 Hot Flashes Vitamin E 4.3514716179
MESH:D006932 Hyperbilirubinemia Carbon Tetrachloride 4.8716899240
MESH:D006965 Hyperplasia 4,4'-diaminodiphenylmethane 4.2515034207
MESH:D006973 Hypertension Cyclosporine 2.1710903974
MESH:D006975 Hypertension, Portal Carbon Tetrachloride 4.3915338365
MESH:D007251 Influenza, Human Selenium 12.2516624496
MESH:D007251 Influenza, Human Vitamin E 12.2516624496
MESH:D007565 Jaundice 4,4'-diaminodiphenylmethane 5.409022650 8074119
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.8215604871
MESH:D007674 Kidney Diseases Cyclosporine 6.448314463 10903974 18776723
MESH:D007674 Kidney Diseases Vitamin E 6.4412488133
MESH:D007676 Kidney Failure, Chronic Selenium 4.1316518626
MESH:D007680 Kidney Neoplasms 4,4'-diaminodiphenylmethane 7.956582329
MESH:D007680 Kidney Neoplasms Cyclosporine 7.9512371664
MESH:D007805 Language Development Disorders Methotrexate 5.369562676
MESH:D008103 Liver Cirrhosis Carbon Tetrachloride 7.3316943688 17174718 16221502 11903743 16239168 21278145 11408273 17157831 17334410
MESH:D008103 Liver Cirrhosis Methotrexate 7.3314986274
MESH:D008105 Liver Cirrhosis, Biliary 4,4'-diaminodiphenylmethane 3.339327722 15034207
MESH:D008106 Liver Cirrhosis, Experimental Carbon Tetrachloride 2.5915057751 16033810 17869086 18418968 18705752 18166357 17698563 17976157 14724832 16011737 15893842 15876570 18472094 18420326 16638106 17766677 17565644 17640975 16116963 12445421 18210741 12609069 20821823 18187930 12649538 18395095 15925388 18481824 14620537 14716833 17922224 18263696 17805973 15959796 12898905 18156304 17944888 12958196 17557913 18429990 18472332 15052691 18006644 16027843 15370692 13678700 18412020 16192424 12546737 12632512 18395914 17631135 15931870 16097048 12632514 12667390 14716496 17525996 15673190 17900296 16015684 15362042 17823541 10355542 15338365 17761835 15650968 12586293 14748882 17721639 17481882 15818738 15730626 18205269 16248980 15123356 18317297 15996030 12445418 17708605 11481614 18339082 16136751 18251166 12666154 17714472 12389079 18376398 18054572 18279442 18277467 12741479 14512876
MESH:D008106 Liver Cirrhosis, Experimental Vitamin E 2.5916169303
MESH:D008107 Liver Diseases Carbon Tetrachloride 2.1316246199 15720792 17285989 16964402 15830285
MESH:D017093 Liver Failure Carbon Tetrachloride 4.4715123358
MESH:D017114 Liver Failure, Acute Carbon Tetrachloride 3.9216899240 14706259
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 4.7720195826 21137059
MESH:D008113 Liver Neoplasms Carbon Tetrachloride 4.7719294768
MESH:D008114 Liver Neoplasms, Experimental 4,4'-diaminodiphenylmethane 6.38598648 1399818 3712494 6587162
MESH:D008114 Liver Neoplasms, Experimental Carbon Tetrachloride 6.3815583823 12014681
MESH:D008171 Lung Diseases Vitamin E 3.3316863852
MESH:D017563 Lung Diseases, Interstitial Methotrexate 5.4018516814
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 2.4817053015 18816296 20135361 18569708 18520028 20064080 6695378 20869020 20464547
MESH:D008175 Lung Neoplasms Vitamin E 2.4811062179
MESH:D008223 Lymphoma Methotrexate 4.1217352296
MESH:D008325 Mammary Neoplasms, Experimental Selenium 2.9015318939
MESH:D008654 Mesothelioma Selenium 2.8715107826
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.1616801185
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.3716381670
MESH:D052016 Mucositis Methotrexate 5.6217488658
MESH:D009362 Neoplasm Metastasis 4,4'-diaminodiphenylmethane 2.553581430
MESH:D009369 Neoplasms Benzo(a)pyrene 2.2711141357
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.8217954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.5018481113 19348381
MESH:D009436 Neural Tube Defects 4,4'-diaminodiphenylmethane 3.066679447
MESH:D009784 Occupational Diseases 4,4'-diaminodiphenylmethane 3.656482804 4026338
MESH:D009902 Optic Neuritis 4,4'-diaminodiphenylmethane 5.403988306
MESH:D010212 Papilloma 4,4'-diaminodiphenylmethane 3.797296757
MESH:D010787 Photosensitivity Disorders 4,4'-diaminodiphenylmethane 4.856228378
MESH:D010954 Plasmacytoma Selenium 5.2715087411
MESH:D011230 Precancerous Conditions Cyclosporine 3.4412371664
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 3.1317292933
MESH:D011471 Prostatic Neoplasms Vitamin E 3.1315084515
MESH:D011565 Psoriasis Cyclosporine 6.1416882103
MESH:D011565 Psoriasis Methotrexate 6.1417410198
MESH:D051437 Renal Insufficiency Methotrexate 5.0217352296
MESH:D012162 Retinal Degeneration 4,4'-diaminodiphenylmethane 3.553692021
MESH:D012871 Skin Diseases Vitamin E 2.4918709164
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 6.0419755658 10029692
MESH:D012878 Skin Neoplasms tert-Butylhydroperoxide 6.048532709
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 1.562093021 20155912
MESH:D020521 Stroke Vitamin E 3.7116517955
MESH:D013576 Syndactyly Methotrexate 5.329562676
MESH:D013964 Thyroid Neoplasms 4,4'-diaminodiphenylmethane 3.061399818 6582329 6587162 3712494 7505956
MESH:D001749 Urinary Bladder Neoplasms 4,4'-diaminodiphenylmethane 5.248074119
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 5.2417053015
MESH:D014605 Uveitis Cyclosporine 4.361336536
MESH:D014985 Xerophthalmia Cyclosporine 4.8217120751
Pathway ID Pathway Name
KEGG:04142 Lysosome
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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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