AutismKB 2.0

Annotation Detail for COL5A3


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Basic Information Top
Gene Symbol:COL5A3 ( - )
Gene Full Name: collagen, type V, alpha 3
Band: 19p13.2
Quick LinksEntrez ID:50509; OMIM: 120216; Uniprot ID:CO5A3_HUMAN; ENSEMBL ID: ENSG00000080573; HGNC ID: 14864
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa05146Amoebiasis
hsa04974Protein digestion and absorption
hsa04512ECM-receptor interaction
hsa04510Focal adhesion
No data
No data
Pathway IDPathway Name
P00034Integrin signalling pathway
No data
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000082 Acetaminophen Acetaminophen affects the expression of COL5A3 mRNAaffects expression 17562736
C068073 Am 580 Am 580 results in increased expression of COL5A3 mRNAincreases expression 16982809
C015001 arsenite arsenite results in decreased expression of COL5A3 mRNAdecreases expression 18929588
C015001 arsenite TRP53 protein affects the reaction [arsenite results in decreased expression of COL5A3 mRNA]affects reaction|decreases expression 18929588
D004041 Dietary Fats Dietary Fats results in increased expression of COL5A3 mRNAincreases expression 18042831
D004164 Diphosphonates Diphosphonates results in decreased expression of COL5A3 mRNAdecreases expression 19597852
D008770 Methylnitrosourea Methylnitrosourea results in decreased expression of COL5A3 mRNAdecreases expression 17341692
C041786 palm oil palm oil results in increased expression of COL5A3 mRNAincreases expression 18042831
D010634 Phenobarbital NR1I3 protein affects the reaction [Phenobarbital results in decreased expression of COL5A3 mRNA]affects reaction|decreases expression 19482888
D010634 Phenobarbital Phenobarbital results in decreased expression of COL5A3 mRNAdecreases expression 19482888
C006253 pirinixic acid pirinixic acid results in decreased expression of COL5A3 mRNAdecreases expression 18445702
C089730 rosiglitazone rosiglitazone results in increased expression of COL5A3 mRNAincreases expression 16982809
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Phenobarbital 3.686195326
MESH:D055371 Acute Lung Injury pirinixic acid 3.3018653653
MESH:D000230 Adenocarcinoma Methylnitrosourea 3.1515113128 15688392
MESH:D018248 Adenoma, Liver Cell Phenobarbital 10.9317620307
MESH:D018248 Adenoma, Liver Cell pirinixic acid 10.9316434500
MESH:D000544 Alzheimer Disease rosiglitazone 2.8819621015
MESH:D000799 Angioedema Acetaminophen 4.1110982225
MESH:D001161 Arteriosclerosis Dietary Fats 4.1015238619
MESH:D001321 Autistic Disorder Acetaminophen 1.4118445737
MESH:D001778 Blood Coagulation Disorders pirinixic acid 3.3219483382
MESH:D001862 Bone Resorption Diphosphonates 6.1517513972
MESH:D001943 Breast Neoplasms Dietary Fats 2.5120435547
MESH:D001943 Breast Neoplasms Methylnitrosourea 2.5111306469 16253758 14633655
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 2.943084413
MESH:D006528 Carcinoma, Hepatocellular Phenobarbital 2.9420007298 1701930 20935162 17173139 6705139
MESH:D002386 Cataract Acetaminophen 13.1410977129
MESH:D002386 Cataract Am 580 13.1417460283
MESH:D002386 Cataract Methylnitrosourea 13.1412484553
MESH:D002471 Cell Transformation, Neoplastic Methylnitrosourea 3.912727394 7505956
MESH:D002493 Central Nervous System Diseases Phenobarbital 4.474080065
MESH:D002779 Cholestasis pirinixic acid 2.9519176532
MESH:D003092 Colitis Am 580 5.1717035595
MESH:D003110 Colonic Neoplasms arsenite 2.6115037631
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.4918249437
MESH:D003920 Diabetes Mellitus rosiglitazone 4.4517446233
MESH:D003924 Diabetes Mellitus, Type 2 rosiglitazone 2.9712642470
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 1.6317522070 14986274 17906064 19923254 16177239 12958197 11421492 16109766 14725611 2444490 16781746 15619225 15968718 16227642 19085960 19164858 11287661 12594235 19739265 16081117 10915739 11834606 12153990 19420014 19416960 12540782 18071297 12705907 11529661 11743745 19370779 18713872 16393943 11739529 10663392 12392966 11461765 16485898 10774834 17562736 14550746
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.3619426721
MESH:D050171 Dyslipidemias Dietary Fats 3.5718367378
MESH:D004421 Dystonia Phenobarbital 4.191851702
MESH:D004487 Edema pirinixic acid 7.5812083418
MESH:D004487 Edema rosiglitazone 7.5812083418
MESH:D004831 Epilepsies, Myoclonic Phenobarbital 4.323659116
MESH:D004828 Epilepsies, Partial Phenobarbital 4.1411558140 3922381
MESH:D004827 Epilepsy Phenobarbital 2.9720417680
MESH:D004832 Epilepsy, Absence Phenobarbital 3.696401628
MESH:D017029 Epilepsy, Complex Partial Phenobarbital 4.477750514
MESH:D004830 Epilepsy, Tonic-Clonic Phenobarbital 4.263659116
MESH:D005234 Fatty Liver arsenite 20.3218296743
MESH:D005234 Fatty Liver Dietary Fats 20.3219551842 18296743 19004024 17967931
MESH:D005234 Fatty Liver pirinixic acid 20.3220131406 19236843
MESH:D005234 Fatty Liver rosiglitazone 20.3219196556
MESH:D005354 Fibrosarcoma Methylnitrosourea 5.4711555667
MESH:D005355 Fibrosis arsenite 9.7618296743
MESH:D005355 Fibrosis Dietary Fats 9.7618296743
MESH:D005756 Gastritis Acetaminophen 3.9416983495
MESH:D005910 Glioma Methylnitrosourea 3.629825942
MESH:D006333 Heart Failure pirinixic acid 2.6320558911
MESH:D006529 Hepatomegaly Phenobarbital 9.2116109766
MESH:D006529 Hepatomegaly pirinixic acid 9.2116221962 19772884 18467677 19176532
MESH:D006930 Hyperalgesia Acetaminophen 8.3516870215
MESH:D006930 Hyperalgesia rosiglitazone 8.3512083418
MESH:D006937 Hypercholesterolemia Dietary Fats 3.7621332399
MESH:D006943 Hyperglycemia pirinixic acid 3.3420558911
MESH:D006949 Hyperlipidemias Dietary Fats 3.8021332399
MESH:D007248 Infertility, Male Methylnitrosourea 3.907193160
MESH:D007249 Inflammation Dietary Fats 5.6620412841
MESH:D007249 Inflammation rosiglitazone 5.6612083418
MESH:D007333 Insulin Resistance Dietary Fats 13.0411836018 18457598
MESH:D007333 Insulin Resistance pirinixic acid 13.0416306350
MESH:D007333 Insulin Resistance rosiglitazone 13.0416306350
MESH:D007674 Kidney Diseases Acetaminophen 2.2912587719 15629191
MESH:D017880 Limb Deformities, Congenital Methylnitrosourea 4.3215526292
MESH:D008103 Liver Cirrhosis arsenite 11.6218296743
MESH:D008103 Liver Cirrhosis Dietary Fats 11.6218296743
MESH:D008103 Liver Cirrhosis Phenobarbital 11.6221047994
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 2.6515474484
MESH:D008106 Liver Cirrhosis, Experimental rosiglitazone 2.6517347453 15980055
MESH:D008107 Liver Diseases Acetaminophen 4.0619784758 16610002 16611625 11587558 12969438 19460945 19014921 12587719
MESH:D008107 Liver Diseases Phenobarbital 4.0619363144
MESH:D017114 Liver Failure, Acute Acetaminophen 3.4016871587 17185352
MESH:D008113 Liver Neoplasms Phenobarbital 4.668742319 19812893 19482888 21047994 15975961 19073162
MESH:D008113 Liver Neoplasms pirinixic acid 4.6615890375 20007298 16377806
MESH:D008114 Liver Neoplasms, Experimental Phenobarbital 2.806150874 18308698 1399818 17172636 2563599
MESH:D038061 Lower Extremity Deformities, Congenital Methylnitrosourea 5.6816080182
MESH:D008175 Lung Neoplasms arsenite 3.0516809336
MESH:D008175 Lung Neoplasms Methylnitrosourea 3.0518062963
MESH:D008223 Lymphoma Methylnitrosourea 4.1311418001 16257854
MESH:D016393 Lymphoma, B-Cell Methylnitrosourea 4.9514633661
MESH:D008325 Mammary Neoplasms, Experimental Methylnitrosourea 6.9810767621 15313902 16619500 11807958 19196723 16944150 17131329 14999141 17020996 11751437 16051031 15113128 12931682 15688392 10838139 14633655 16827153
MESH:D008325 Mammary Neoplasms, Experimental rosiglitazone 6.9816827153
MESH:D008336 Mandibular Diseases Diphosphonates 7.1019070762
MESH:D008439 Maxillary Diseases Diphosphonates 7.3419070762
MESH:D008546 Melanoma, Experimental Acetaminophen 3.7819513568
MESH:D024821 Metabolic Syndrome X rosiglitazone 4.5217261469
MESH:D009135 Muscular Diseases pirinixic acid 3.7216239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.2019151258
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.0816411023
MESH:D020191 Myoclonic Epilepsies, Progressive Phenobarbital 4.7117484760
MESH:D009369 Neoplasms Methylnitrosourea 5.5015533788
MESH:D009369 Neoplasms pirinixic acid 5.5017405874
MESH:D009374 Neoplasms, Experimental Methylnitrosourea 4.6912696579
MESH:D009389 Neovascularization, Pathologic arsenite 4.6515738583
MESH:D009442 Neurilemmoma Methylnitrosourea 5.7211555667
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.0118514411
MESH:D009765 Obesity Dietary Fats 4.5618457598 18674790 21332399 19632207 11836018 20132043 16723640 20518802 17217161
MESH:D009765 Obesity pirinixic acid 4.5620558911
MESH:D010014 Osteolysis Diphosphonates 6.8912548581
MESH:D010018 Osteomalacia Phenobarbital 4.6017016548
MESH:D010020 Osteonecrosis Diphosphonates 7.3419070762
MESH:D010146 Pain Acetaminophen 2.5316870215
MESH:D010190 Pancreatic Neoplasms Methylnitrosourea 5.7916965848
MESH:D010190 Pancreatic Neoplasms Phenobarbital 5.7916965848
MESH:D011230 Precancerous Conditions Phenobarbital 3.772563599
MESH:D011471 Prostatic Neoplasms Methylnitrosourea 4.0815682402 12376480
MESH:D019310 Pseudolymphoma Phenobarbital 4.7612752131
MESH:D015427 Reperfusion Injury pirinixic acid 2.4619058328
MESH:D012162 Retinal Degeneration Methylnitrosourea 4.5418172121 18155124
MESH:D012175 Retinoblastoma Methylnitrosourea 5.7211555667
MESH:D012640 Seizures Phenobarbital 2.8016876388 3137016 4039156 11442880
MESH:D003294 Seizures, Febrile Phenobarbital 5.066407741
MESH:D013274 Stomach Neoplasms Methylnitrosourea 2.6915930296 18593901 16257854
MESH:D013953 Thymus Neoplasms Methylnitrosourea 5.4711418001
MESH:D013964 Thyroid Neoplasms Methylnitrosourea 7.967505956 3078959
MESH:D013964 Thyroid Neoplasms Phenobarbital 7.961399818
MESH:D014581 Urticaria Acetaminophen 3.1610982225
MESH:D015430 Weight Gain Dietary Fats 3.8916723640
Pathway ID Pathway Name
KEGG:05146 Amoebiasis
KEGG:04512 ECM-receptor interaction
KEGG:04510 Focal adhesion
KEGG:04974 Protein digestion and absorption
Pharmacogenomics Knowledge Base Top
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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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