AutismKB 2.0

Annotation Detail for COL4A4


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Basic Information Top
Gene Symbol:COL4A4 ( CA44 )
Gene Full Name: collagen, type IV, alpha 4
Band: 2q36.3
Quick LinksEntrez ID:1286; OMIM: 120131; Uniprot ID:CO4A4_HUMAN; ENSEMBL ID: ENSG00000081052; HGNC ID: 2206
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa05146Amoebiasis
hsa04974Protein digestion and absorption
hsa05222Small cell lung cancer
hsa04512ECM-receptor interaction
hsa04510Focal adhesion
hsa05200Pathways in cancer
Pathway IDPathway Name
Axon guidance
Signaling by PDGF
Integrin cell surface interactions
No data
Pathway IDPathway Name
P00034Integrin signalling pathway
No data
Related Diseases/Disorders Top
No data
No data
No data
No data
Desease Name
Alport syndrome, autosomal recessive
Hematuria, familial benign
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C051890 irinotecan irinotecan analog results in decreased expression of COL4A4 mRNAdecreases expression 18927307
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of COL4A4 mRNAincreases expression 12377990
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.7311752688 14514962 15322242
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 4.2616835633
MESH:C536587 Alport syndrome, recessive type marker/mechanism
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.4511748828
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.5912125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.8615340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 3.0515746008
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.6620435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.2116835633
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.6018670907 18850075 16120746
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.6316835633
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.2612621046 8697196 16354765 15340226 15668235
MESH:D003110 Colonic Neoplasms irinotecan 2.6517287894 17725105
MESH:D015179 Colorectal Neoplasms irinotecan 2.3718259882 15273666 17159606 17454858 16391804 16303861 18509181
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.5317141729 14669216
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2715322242 20055451 10048152
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7517107852
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 1.6320420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 3.1211462148
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.9211000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.9716714409 18230668 15322242
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.539294722 10568697
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.3811564622
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 4.2211858732
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.7120067830
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.6610696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.5510048152 11294989
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.8911000095
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.6516120746 15340226 12621046
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 5.1215340226 16959395 8697196 16354765 18606429
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 2.0418670907 18850075
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 2.0612878042 12200463
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.8916580747
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 1.2512878042
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 1.8516984957
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 2.3812151625
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 1.2411884234 19555203
MESH:D052016 Mucositis irinotecan 5.8917159606
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.4312213967
MESH:D009362 Neoplasm Metastasis irinotecan 3.3218259882
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.8914600291
MESH:D009447 Neuroblastoma irinotecan 3.698761367
MESH:D017599 Neuroectodermal Tumors irinotecan 5.628761367
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 5.3212520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 4.2318163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 4.0811399792 11222880 11118676 11896295
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.5118990726
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.2316192470
MESH:D013274 Stomach Neoplasms irinotecan 2.3615723263
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.9712697716
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.6612125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 5.3215886252
Pathway ID Pathway Name
KEGG:05146 Amoebiasis
REACT:18266 Axon guidance
KEGG:04512 ECM-receptor interaction
KEGG:04510 Focal adhesion
REACT:13552 Integrin cell surface interactions
KEGG:05200 Pathways in cancer
KEGG:04974 Protein digestion and absorption
REACT:16888 Signaling by PDGF
KEGG:05222 Small cell lung cancer
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA26721
    • No data
    No data
    Releated drug ID Related drug Name
    PA164744376adenosine monophosphate
    PA164743471adenosine triphosphate
    PA449470epinephrine
    Drug Bank Top

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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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