AutismKB 2.0

Annotation Detail for CLN8


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Basic Information Top
Gene Symbol:CLN8 ( C8orf61,EPMR,FLJ39417 )
Gene Full Name: ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
Band: 8p23.3
Quick LinksEntrez ID:2055; OMIM: 607837; Uniprot ID:CLN8_HUMAN; ENSEMBL ID: ENSG00000182372; HGNC ID: 2079
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
1799Epilepsy
1832Congenital abnormality
No data
No data
Desease Name
Ceroid lipofuscinosis, neuronal 8
Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C026137 3-hydroxyacetanilide 3-hydroxyacetanilide results in increased expression of CLN8 mRNAincreases expression 18544908
D000082 Acetaminophen Acetaminophen affects the expression of CLN8 mRNAaffects expression 17562736
D000082 Acetaminophen Acetaminophen results in increased expression of CLN8 mRNAincreases expression 18544908
D016572 Cyclosporine Cyclosporine results in increased expression of CLN8 mRNAincreases expression 20106945
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in increased expression of CLN8 mRNAaffects binding|increases activity|increases expression 19710929
C006253 pirinixic acid pirinixic acid results in increased expression of CLN8 mRNAincreases expression 17426115
D014635 Valproic Acid Valproic Acid results in increased expression of CLN8 mRNAincreases expression 19101580
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Valproic Acid 4.028875741
MESH:D000015 Abnormalities, Multiple Valproic Acid 4.3019490988
MESH:D055371 Acute Lung Injury pirinixic acid 3.5218653653
MESH:D018248 Adenoma, Liver Cell pirinixic acid 4.0216434500
MESH:D000550 Amblyopia Valproic Acid 5.8517688650
MESH:D000799 Angioedema Acetaminophen 4.4510982225
MESH:D001008 Anxiety Disorders Valproic Acid 3.8617497229
MESH:D001321 Autistic Disorder Acetaminophen 1.8618445737
MESH:D001321 Autistic Disorder Valproic Acid 1.8617507914 18396377 17688650 19232924 17157402 18177632 18985861 18940202 18316065 20603192 18558336 15238991 18775368 19460635 16609825
MESH:D001714 Bipolar Disorder Valproic Acid 3.2320046352 17594078
MESH:D001778 Blood Coagulation Disorders pirinixic acid 3.5219483382
MESH:D001848 Bone Diseases, Developmental Valproic Acid 3.618888407
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 1.403084413
MESH:D002386 Cataract Acetaminophen 2.7710977129
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 2.7612371664
MESH:C537952 Ceroid lipofuscinosis, neuronal 8 marker/mechanism
OMIM:610003 CEROID LIPOFUSCINOSIS, NEURONAL, 8, NORTHERN EPILEPSY VARIANT marker/mechanism
MESH:D002659 Child Development Disorders, Pervasive Valproic Acid 2.8120734317
MESH:D002779 Cholestasis Cyclosporine 8.6319486331
MESH:D002779 Cholestasis pirinixic acid 8.6319176532
MESH:D019465 Craniofacial Abnormalities Valproic Acid 1.9017688650 8888407 16575769
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5618249437
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 4.0718713872 11421492 19923254 16177239 12594235 14725611 14550746 16781746 19164858 16109766 11743745 17906064 12153990 12705907 2444490 12958197 11287661 14986274 19739265 19085960 19420014 11834606 12540782 16227642 15619225 16081117 11739529 19416960 10663392 11461765 11529661 18071297 10915739 17522070 16485898 12392966 17562736 15968718 19370779 10774834 16393943
MESH:D056486 Drug-Induced Liver Injury Valproic Acid 4.071733752 19641884
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.7119426721
MESH:D004421 Dystonia Valproic Acid 4.451851702
MESH:D004487 Edema pirinixic acid 2.8512083418
MESH:D004831 Epilepsies, Myoclonic Valproic Acid 4.6417275665 3659116
MESH:D004828 Epilepsies, Partial Valproic Acid 4.5316628512 3922381
MESH:D004827 Epilepsy Valproic Acid 3.0920417680 18234410
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:D005234 Fatty Liver Cyclosporine 15.3319224547
MESH:D005234 Fatty Liver pirinixic acid 15.3320131406 19236843
MESH:D005234 Fatty Liver Valproic Acid 15.3319224547 14986274
MESH:D005315 Fetal Diseases Valproic Acid 5.5016575769
MESH:D005317 Fetal Growth Retardation Valproic Acid 4.5718558336 8888407
MESH:D005355 Fibrosis Cyclosporine 3.6212639820 12168785
MESH:D005756 Gastritis Acetaminophen 4.2916983495
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.768708960
MESH:D006333 Heart Failure pirinixic acid 2.7320558911
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.9615720958
MESH:D006529 Hepatomegaly pirinixic acid 3.4816221962 19772884 18467677 19176532
MESH:D006849 Hydrocephalus Valproic Acid 5.4117688650
MESH:D006930 Hyperalgesia Acetaminophen 2.9916870215
MESH:D006943 Hyperglycemia pirinixic acid 3.5320558911
MESH:D006973 Hypertension Cyclosporine 2.2010903974
MESH:D007333 Insulin Resistance pirinixic acid 2.8516306350
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 5.0515604871
MESH:D007674 Kidney Diseases Acetaminophen 6.4112587719 15629191
MESH:D007674 Kidney Diseases Cyclosporine 6.4118776723 10903974 8314463
MESH:D007680 Kidney Neoplasms Cyclosporine 3.0412371664
MESH:D015470 Leukemia, Myeloid, Acute Valproic Acid 2.1916294345 17596541
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 1.3515474484
MESH:D008107 Liver Diseases Acetaminophen 1.6919784758 16610002 19460945 12587719 12969438 11587558 19014921 16611625
MESH:D017114 Liver Failure, Acute Acetaminophen 3.5817185352 16871587
MESH:D008113 Liver Neoplasms pirinixic acid 1.9215890375 20007298 16377806
MESH:D017563 Lung Diseases, Interstitial Valproic Acid 4.8717228818
MESH:D008546 Melanoma, Experimental Acetaminophen 4.0519513568
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.4016801185
MESH:D008881 Migraine Disorders Valproic Acid 3.4418803445 18765137
MESH:D009135 Muscular Diseases pirinixic acid 3.9916239165
MESH:D009139 Musculoskeletal Abnormalities Valproic Acid 4.408888407
MESH:D009190 Myelodysplastic Syndromes Valproic Acid 3.3317596541
MESH:D009203 Myocardial Infarction pirinixic acid 2.2619151258
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.2216411023
MESH:D009369 Neoplasms pirinixic acid 2.0917405874
MESH:D009402 Nephrosis, Lipoid Cyclosporine 5.0517954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.6119348381 18481113
MESH:D009436 Neural Tube Defects Valproic Acid 3.3416359493 8888407
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.1818514411
MESH:D009765 Obesity pirinixic acid 1.8820558911
MESH:D010146 Pain Acetaminophen 2.6916870215
MESH:D011230 Precancerous Conditions Cyclosporine 3.5512371664
MESH:D011297 Prenatal Exposure Delayed Effects Valproic Acid 4.3720603192
MESH:D019310 Pseudolymphoma Valproic Acid 5.1512752131 11422049
MESH:D011565 Psoriasis Cyclosporine 2.3216882103
MESH:D015427 Reperfusion Injury pirinixic acid 2.5319058328
MESH:D012208 Rhabdomyosarcoma Valproic Acid 4.5819155313
MESH:D012559 Schizophrenia Valproic Acid 2.1015737665 19110320
MESH:D012640 Seizures Valproic Acid 2.9614763951 15475178 11044598 17978042 1511512 16876388 11738929 3137016
MESH:D016135 Spinal Dysraphism Valproic Acid 4.0619490988
MESH:D013226 Status Epilepticus Valproic Acid 5.1512833885
MESH:D014178 Translocation, Genetic Valproic Acid 5.8517262798
MESH:D020194 Unverricht-Lundborg Syndrome Valproic Acid 5.063119515
MESH:D014564 Urogenital Abnormalities Valproic Acid 5.138888407
MESH:D014581 Urticaria Acetaminophen 3.3810982225
MESH:D014605 Uveitis Cyclosporine 4.591336536
MESH:D014985 Xerophthalmia Cyclosporine 5.0517120751
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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