AutismKB 2.0

Annotation Detail for COL19A1


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Basic Information Top
Gene Symbol:COL19A1 ( COL9A1L,D6S228E )
Gene Full Name: collagen, type XIX, alpha 1
Band: 6q13
Quick LinksEntrez ID:1310; OMIM: 120165; Uniprot ID:COJA1_HUMAN; ENSEMBL ID: ENSG00000082293; HGNC ID: 2196
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
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Pathway IDPathway Name
P00034Integrin signalling pathway
No data
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D013749 Tetrachlorodibenzodioxin AHR protein inhibits the reaction [Tetrachlorodibenzodioxin results in increased expression of COL19A1 mRNA]decreases reaction|increases expression 14728982
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of COL19A1 mRNAincreases expression 14728982
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.9314514962 15322242 11752688
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 4.4716835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.5211748828
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.6712125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 5.2115340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 3.0815746008
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.6620435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.2516835633
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.6218850075 18670907 16120746
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.6916835633
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.2816354765 12621046 15668235 15340226 8697196
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.5917141729 14669216
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2710048152 15322242 20055451
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7617107852
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 1.6420420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 3.1611462148
MESH:D004487 Edema Tetrachlorodibenzodioxin 3.0011000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 5.3216714409 15322242 18230668
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.5910568697 9294722
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.4211564622
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 4.3611858732
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.8520067830
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 6.0110696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.5711294989 10048152
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.9611000095
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.8016120746 12621046 15340226
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 5.468697196 16354765 16959395 18606429 15340226
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 2.0618850075 18670907
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 2.0812200463 12878042
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.9616580747
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 1.2512878042
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 1.8616984957
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 2.4112151625
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 1.2511884234 19555203
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.4812213967
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 4.0014600291
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 5.6612520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 4.3518163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 4.2811896295 11399792 11118676 11222880
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.6218990726
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.2416192470
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 5.3212697716
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 6.0112125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 5.6615886252
No data
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA26712
    • No data
    Releated disease ID Related disease Name
    PA443560Breast Neoplasms
    No data
    Drug Bank Top

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    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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