AutismKB 2.0

Annotation Detail for COL4A3


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Basic Information Top
Gene Symbol:COL4A3 ( - )
Gene Full Name: collagen, type IV, alpha 3 (Goodpasture antigen)
Band: 2q36.3
Quick LinksEntrez ID:1285; OMIM: 120070; Uniprot ID:CO4A3_HUMAN; ENSEMBL ID: ENSG00000169031; HGNC ID: 2204
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
No data
Pathway IDPathway Name
Axon guidance
Signaling by PDGF
Integrin cell surface interactions
Pathway IDPathway Name
200109Integrins in angiogenesis
Pathway IDPathway Name
P00034Integrin signalling pathway
No data
Related Diseases/Disorders Top
No data
No data
Desease Name
RENAL
nephropathy, basement membrane
No data
Desease Name
Alport syndrome, autosomal recessive
Hematuria, benign familial
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000643 Ammonium Chloride Ammonium Chloride affects the expression of COL4A3 mRNAaffects expression 16483693
D001151 Arsenic Arsenic results in decreased expression of COL4A3 mRNAdecreases expression 19654921
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 COL4A3 mRNAdecreases expression 20018196
D008628 Mercury Mercury results in increased expression of COL4A3 mRNAincreases expression 16823088
D008770 Methylnitrosourea Methylnitrosourea results in decreased expression of COL4A3 mRNAdecreases expression 16525678
C452423 N-(4-bromo-2-fluorophenyl)-6-methoxy-7-((1-methylpiperidin-4-yl)methoxy)quinazolin-4-amine N-(4-bromo-2-fluorophenyl)-6-methoxy-7-((1-methylpiperidin-4-yl)methoxy)quinazolin-4-amine results in increased expression of COL4A3 mRNAincreases expression 16052530
D012643 Selenium Selenium results in decreased expression of COL4A3 mRNAdecreases expression 19244175
D013853 Thioacetamide Thioacetamide results in decreased expression of COL4A3 mRNAdecreases expression 16297948
D013853 Thioacetamide Thioacetamide results in decreased expression of COL4A3 proteindecreases expression 16297948
D014810 Vitamin E Vitamin E results in decreased expression of COL4A3 mRNAdecreases expression 19244175
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000138 Acidosis Ammonium Chloride 3.8418287403
MESH:D000230 Adenocarcinoma Methylnitrosourea 3.1615688392 15113128
MESH:D018246 Adrenocortical Adenoma Arsenic 5.5317306315
MESH:C536587 Alport syndrome, recessive type marker/mechanism
MESH:D020261 Arsenic Poisoning Arsenic 2.9112569548 16251483 18414634 16835338
MESH:D050197 Atherosclerosis Arsenic 3.3619371607 12928151
MESH:D001321 Autistic Disorder Mercury 2.7717497416
MESH:D001327 Autoimmune Diseases Mercury 5.1316634805
MESH:D001778 Blood Coagulation Disorders Thioacetamide 4.3819483382
MESH:D001943 Breast Neoplasms Methylnitrosourea 3.1516253758 11306469 14633655
MESH:D002252 Carbon Tetrachloride Poisoning Vitamin E 4.1916050911
MESH:D002280 Carcinoma, Basal Cell Arsenic 3.6915504454 17687452
MESH:D006528 Carcinoma, Hepatocellular Arsenic 3.4916507464 17306315
MESH:D006528 Carcinoma, Hepatocellular Thioacetamide 3.4917997003
MESH:D002294 Carcinoma, Squamous Cell Arsenic 2.7417687452 18922899 15504454
MESH:D002295 Carcinoma, Transitional Cell Arsenic 4.2718640142
MESH:D002311 Cardiomyopathy, Dilated Mercury 3.5110334427
MESH:D002318 Cardiovascular Diseases Arsenic 3.5815738583 17938729 19152805
MESH:D002340 Carotid Artery Diseases Arsenic 4.4916973168 18022660
MESH:D002386 Cataract Methylnitrosourea 4.1012484553
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 7.4820889678
MESH:D002471 Cell Transformation, Neoplastic Methylnitrosourea 7.487505956 2727394
MESH:D018281 Cholangiocarcinoma Thioacetamide 4.4718291259
MESH:D003092 Colitis Selenium 4.0417936198
MESH:D019465 Craniofacial Abnormalities Vitamin E 1.9219769572
MESH:D017449 Dermatitis, Allergic Contact Mercury 4.0516823706
MESH:D056486 Drug-Induced Liver Injury Selenium 4.3615131321
MESH:D056486 Drug-Induced Liver Injury Thioacetamide 4.3612963478
MESH:C538011 Eales disease Vitamin E 5.029068938
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 2.1120426865
MESH:D005218 Fat Necrosis Thioacetamide 6.0416456712
MESH:D005354 Fibrosarcoma Methylnitrosourea 5.5211555667
MESH:D005534 Foot Diseases Arsenic 5.886392382
MESH:D005910 Glioma Methylnitrosourea 3.639825942
MESH:D006330 Heart Defects, Congenital Vitamin E 3.0816080930
MESH:D006333 Heart Failure Selenium 3.1917162251
OMIM:141200 HEMATURIA, BENIGN FAMILIAL marker/mechanism
MESH:D006501 Hepatic Encephalopathy Thioacetamide 4.7818665440 17276928 15929193
MESH:D006505 Hepatitis Thioacetamide 4.4516456712
MESH:D006548 Hernia, Diaphragmatic Vitamin E 2.7616863852 16490937
MESH:D019584 Hot Flashes Vitamin E 4.2914716179
MESH:D017488 Hyperkeratosis, Epidermolytic Arsenic 4.6517050553
MESH:D006973 Hypertension Arsenic 2.9316076760 11953799 9931084
MESH:D006987 Hypesthesia Arsenic 5.8816093927
MESH:D007248 Infertility, Male Methylnitrosourea 3.927193160
MESH:D007251 Influenza, Human Selenium 12.0416624496
MESH:D007251 Influenza, Human Vitamin E 12.0416624496
MESH:D007642 Keratosis Arsenic 5.2816930632 12749816
MESH:D007674 Kidney Diseases Mercury 6.8317934191
MESH:D007674 Kidney Diseases Vitamin E 6.8312488133
MESH:D007676 Kidney Failure, Chronic Selenium 4.0916518626
MESH:D015473 Leukemia, Promyelocytic, Acute Arsenic 3.6817339181
MESH:D017880 Limb Deformities, Congenital Methylnitrosourea 4.3515526292
MESH:D008106 Liver Cirrhosis, Experimental Thioacetamide 2.8117355460 15334695 16343077 15158331 15288472 18458672 11172339 16511523 17292413 15716488 15078482 18416461 18031379 12679928 16126171 16098781 11682029 11481614 18380797 12891558 15474484 12175628 15316131 18615449 18263696 15075984 18295389 16097051 18395095 16248980 15095483 14739098 17127702 15288473 18032466 10677585 17629604 16489207 17050028 15465738 12531686 15362042 12557150 12085344 18606216
MESH:D008106 Liver Cirrhosis, Experimental Vitamin E 2.8116169303
MESH:D008107 Liver Diseases Arsenic 4.6111134558
MESH:D008107 Liver Diseases Thioacetamide 4.6116337175 18374380 15158337
MESH:D017114 Liver Failure, Acute Thioacetamide 4.5017276928 15633222 12479984 15313186
MESH:D008113 Liver Neoplasms Arsenic 2.7416368122
MESH:D038061 Lower Extremity Deformities, Congenital Methylnitrosourea 5.7216080182
MESH:D008171 Lung Diseases Vitamin E 3.3116863852
MESH:D008175 Lung Neoplasms Arsenic 3.7519168569 17306315 17976673
MESH:D008175 Lung Neoplasms Methylnitrosourea 3.7518062963
MESH:D008175 Lung Neoplasms Vitamin E 3.7511062179
MESH:D008223 Lymphoma Methylnitrosourea 4.1516257854 11418001
MESH:D016393 Lymphoma, B-Cell Methylnitrosourea 4.9914633661
MESH:D008325 Mammary Neoplasms, Experimental Methylnitrosourea 6.8219196723 16619500 16944150 11751437 17020996 10767621 17131329 15313902 15688392 15113128 14999141 10838139 16827153 11807958 16051031 12931682 14633655
MESH:D008325 Mammary Neoplasms, Experimental Selenium 6.8215318939
MESH:D008654 Mesothelioma Selenium 2.8615107826
MESH:D017202 Myocardial Ischemia Arsenic 4.1515371236
MESH:D009369 Neoplasms Methylnitrosourea 3.3915533788
MESH:D009374 Neoplasms, Experimental Methylnitrosourea 4.7312696579
MESH:D009436 Neural Tube Defects Arsenic 3.5816620997
MESH:D009442 Neurilemmoma Methylnitrosourea 5.7711555667
MESH:D020078 Neurogenic Inflammation Arsenic 4.6017056641
MESH:D010051 Ovarian Neoplasms Arsenic 2.8017306315
MESH:D010190 Pancreatic Neoplasms Methylnitrosourea 3.4216965848
MESH:D010523 Peripheral Nervous System Diseases Arsenic 4.4216093927
MESH:D016491 Peripheral Vascular Diseases Arsenic 5.2815371236 16905509 6392382
MESH:D010954 Plasmacytoma Selenium 5.2115087411
MESH:D011471 Prostatic Neoplasms Arsenic 2.7116140617
MESH:D011471 Prostatic Neoplasms Methylnitrosourea 2.7115682402 12376480
MESH:D011471 Prostatic Neoplasms Vitamin E 2.7115084515
MESH:D011507 Proteinuria Arsenic 4.2221343184
MESH:D012162 Retinal Degeneration Methylnitrosourea 4.5618172121 18155124
MESH:D012175 Retinoblastoma Methylnitrosourea 5.7711555667
MESH:D012871 Skin Diseases Arsenic 5.1917453740 19834688 16353154 15952646 18709164 17548696 17938729 17050553 6392382 16759981 16702368
MESH:D012871 Skin Diseases Vitamin E 5.1918709164
MESH:D012878 Skin Neoplasms Arsenic 3.0916251483 17976673 19538983 17029826 15504454 17050553
MESH:D013274 Stomach Neoplasms Methylnitrosourea 2.6916257854 18593901 15930296
MESH:D020521 Stroke Vitamin E 3.6816517955
MESH:D013953 Thymus Neoplasms Methylnitrosourea 5.5211418001
MESH:D013964 Thyroid Neoplasms Methylnitrosourea 8.717505956 3078959
MESH:D013964 Thyroid Neoplasms N-(4-bromo-2-fluorophenyl)-6-methoxy-7-((1-methylpiperidin-4-yl)methoxy)quinazolin-4-amine 8.7116940797
MESH:D001749 Urinary Bladder Neoplasms Arsenic 2.8818640142 19322015 17306315 11144890 19429237 17976673 15987713
MESH:D014652 Vascular Diseases Arsenic 5.0217056641
Pathway ID Pathway Name
REACT:18266 Axon guidance
REACT:13552 Integrin cell surface interactions
REACT:16888 Signaling by PDGF
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA26719
    • No data
    Releated disease ID Related disease Name
    PA444119Eye Diseases
    PA446225Eye Diseases, Hereditary
    Releated drug ID Related drug Name
    PA164744376adenosine monophosphate
    PA164743471adenosine triphosphate
    PA449470epinephrine
    Drug Bank Top

    Simple Query:


      (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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