AutismKB 2.0

Annotation Detail for COL9A2


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Basic Information Top
Gene Symbol:COL9A2 ( DJ39G22.4,EDM2,MED )
Gene Full Name: collagen, type IX, alpha 2
Band: 1p34.2
Quick LinksEntrez ID:1298; OMIM: 120260; Uniprot ID:CO9A2_HUMAN; ENSEMBL ID: ENSG00000049089; HGNC ID: 2218
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04974Protein digestion and absorption
Pathway IDPathway Name
Axon guidance
Signaling by PDGF
No data
Pathway IDPathway Name
P00034Integrin signalling pathway
No data
Related Diseases/Disorders Top
No data
No data
Desease Name
AGING
intervertebral disc disease
disc degeneration, lumbar spine
No data
Desease Name
Intervertebral disc disease, susceptibility to
Epiphyseal dysplasia, multiple, 2
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D016572 Cyclosporine Cyclosporine results in decreased expression of COL9A2 mRNAdecreases expression 20106945
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of COL9A2 mRNAincreases expression 16120747
D014212 Tretinoin Tretinoin results in decreased expression of COL9A2 mRNAdecreases expression 18230668
D014212 Tretinoin Tretinoin results in increased expression of COL9A2 mRNAincreases expression 16140955
D014212 Tretinoin Tretinoin results in increased expression of COL9A2 mRNAincreases expression 16604517
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.5911752688 14514962 15322242
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 4.1216835633
MESH:D000505 Alopecia Tretinoin 3.9815955085
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.3911748828
MESH:D001169 Arthritis, Experimental Tretinoin 3.3216412693
MESH:D001172 Arthritis, Rheumatoid Tretinoin 2.3416292516
MESH:D001249 Asthma Tretinoin 2.4416456186
MESH:D001471 Barrett Esophagus Tretinoin 4.9916935849
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 10.5912125929
MESH:D001778 Blood Coagulation Disorders Tretinoin 10.5916206674 16197459
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.6615340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 3.0215746008
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.9420435547
MESH:D001943 Breast Neoplasms Tretinoin 1.9416443354 16873071 16166294
MESH:D001997 Bronchopulmonary Dysplasia Tretinoin 5.3316813970
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.1616835633
MESH:D018236 Carcinoma, Embryonal Tretinoin 6.0316168501
MESH:D006528 Carcinoma, Hepatocellular Tretinoin 1.921917145
MESH:D002294 Carcinoma, Squamous Cell Tretinoin 2.3816051514 16096774
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.5818670907 16120746 18850075
MESH:D002386 Cataract Tretinoin 3.3217460283
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 2.8212371664
MESH:D018290 Cervical Intraepithelial Neoplasia Tretinoin 5.3316129372
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.5816835633
MESH:D002779 Cholestasis Cyclosporine 3.2419486331
MESH:D002822 Choriocarcinoma Tretinoin 6.0316461808
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 6.2612621046 8697196 16354765 15668235 15340226
MESH:D002972 Cleft Palate Tretinoin 6.269407595
MESH:D003092 Colitis Tretinoin 4.3517035595
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.4817141729 14669216
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 2.5415322242 20055451 10048152
MESH:D019465 Craniofacial Abnormalities Tretinoin 2.549211117 9664655 9142499 9125849 8800419 14991402 9224671 17551590 16925845 10589399
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7417107852
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 1.6220420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 3.0911462148
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.8511000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 15.0618230668 15322242 16714409
MESH:D004489 Edema, Cardiac Tretinoin 15.0618230668
MESH:D016889 Endometrial Neoplasms Tretinoin 3.3716569247
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.4710568697 9294722
MESH:C535502 Epiphyseal dysplasia, multiple, 2 marker/mechanism
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 9.9411564622
MESH:D005124 Eye Abnormalities Tretinoin 9.949664655 16938888
MESH:D005234 Fatty Liver Cyclosporine 3.3419224547
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 4.1111858732
MESH:D005355 Fibrosis Cyclosporine 18.9012168785 12639820
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 18.9020067830
MESH:D005355 Fibrosis Tretinoin 18.9017994277
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.968708960
MESH:D005909 Glioblastoma Tretinoin 3.2717312396
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.4610696789
MESH:D006258 Head and Neck Neoplasms Tretinoin 3.4616096774
MESH:D006317 Hearing Loss, Noise-Induced Tretinoin 6.0316084493
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 7.2010048152 11294989
MESH:D006330 Heart Defects, Congenital Tretinoin 7.209664655 14991402
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 5.1615720958
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.8211000095
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.5412621046 16120746 15340226
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.9116959395 16354765 18606429 8697196 15340226
MESH:D006930 Hyperalgesia Tretinoin 3.5716870215
MESH:D017681 Hypereosinophilic Syndrome Tretinoin 5.2216778211
MESH:D006973 Hypertension Cyclosporine 5.3910903974
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 5.3918850075 18670907
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 2.0412200463 12878042
MESH:C535531 Intervertebral disc disease marker/mechanism
MESH:D007410 Intestinal Diseases Tretinoin 4.4217994277
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 11.5916580747
MESH:D007569 Jaw Abnormalities Tretinoin 11.5915992940 17551590
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 5.3115604871
MESH:D007674 Kidney Diseases Cyclosporine 2.5618776723 10903974 8314463
MESH:D007680 Kidney Neoplasms Cyclosporine 3.1212371664
MESH:D007938 Leukemia Tretinoin 2.9517143497
MESH:D007951 Leukemia, Myeloid Tretinoin 4.1819285840 16482212 16932348
MESH:D015470 Leukemia, Myeloid, Acute Tretinoin 2.1317596541 16294345 19850784
MESH:D015473 Leukemia, Promyelocytic, Acute Tretinoin 3.4217506722 19075265 12679006 17339181 16140955 19642359 19029980 15748426 19225113 17368321 17217047 16331271 16891316 17712046 16935935 19035177 17649720 16766008 17361223 16788101 17294898 9834237 17301526 17107899 16823087
MESH:D017880 Limb Deformities, Congenital Tretinoin 3.629224671
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 2.4112878042
MESH:D008106 Liver Cirrhosis, Experimental Tretinoin 2.4118397230 16248980
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 1.8416984957
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 2.3512151625
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 1.2411884234 19555203
MESH:D008527 Medulloblastoma Tretinoin 2.9217453147
MESH:D008545 Melanoma Tretinoin 1.9916752155
MESH:D008591 Meningomyelocele Tretinoin 5.0816940565
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.6516801185
MESH:D009190 Myelodysplastic Syndromes Tretinoin 3.3017596541
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.3812213967
MESH:D009369 Neoplasms Tretinoin 2.5916946489 16594593
MESH:D009402 Nephrosis, Lipoid Cyclosporine 5.3117954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.7019348381 18481113
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 11.5314600291
MESH:D009421 Nervous System Malformations Tretinoin 11.539125849
MESH:D009436 Neural Tube Defects Tretinoin 3.329142499
MESH:D010051 Ovarian Neoplasms Tretinoin 2.4516936753
MESH:D010146 Pain Tretinoin 3.2816870215
MESH:D010190 Pancreatic Neoplasms Tretinoin 2.5815976015
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 5.1212520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 4.1418163543
MESH:D011230 Precancerous Conditions Cyclosporine 3.6412371664
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.9311896295 11399792 11222880 11118676
MESH:D011507 Proteinuria Tretinoin 4.1316636307
MESH:D011565 Psoriasis Cyclosporine 2.3416882103
MESH:D011625 Pterygium Tretinoin 5.5416723453
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.4218990726
MESH:D012208 Rhabdomyosarcoma Tretinoin 4.6316283617 16116481
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 6.1416192470
MESH:D012878 Skin Neoplasms Tretinoin 6.1416467112
MESH:D013274 Stomach Neoplasms Tretinoin 1.8017261132
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.7712697716
MESH:D013964 Thyroid Neoplasms Tretinoin 3.3616026305 17045167
MESH:D014062 Tongue Neoplasms Tretinoin 4.2416051514
MESH:D014376 Tuberculosis Tretinoin 3.4716040207
MESH:D002583 Uterine Cervical Neoplasms Tretinoin 4.1216129372
MESH:D014604 Uveal Neoplasms Tretinoin 5.4816752155
MESH:D014605 Uveitis Cyclosporine 4.851336536
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.4612125929
MESH:D014820 Vitiligo Tretinoin 4.6416761959
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 5.1215886252
MESH:D009396 Wilms Tumor Tretinoin 4.3916287080
MESH:D014985 Xerophthalmia Cyclosporine 5.3117120751
Pathway ID Pathway Name
REACT:18266 Axon guidance
KEGG:04974 Protein digestion and absorption
REACT:16888 Signaling by PDGF
Pharmacogenomics Knowledge Base Top
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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