AutismKB 2.0

Annotation Detail for C9orf3


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Basic Information Top
Gene Symbol:C9orf3 ( AOPEP,AP-O,APO,C90RF3,FLJ14675,FLJ40923,FLJ55832,ONPEP )
Gene Full Name: chromosome 9 open reading frame 3
Band: 9q22.32
Quick LinksEntrez ID:84909; OMIM: NA; Uniprot ID:AMPO_HUMAN; ENSEMBL ID: ENSG00000148120; HGNC ID: 1361
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D001564 Benzo(a)pyrene Benzo(a)pyrene results in decreased expression of C9ORF3 mRNAdecreases expression 20064835
D016572 Cyclosporine Cyclosporine results in decreased expression of C9ORF3 mRNAdecreases expression 20106945
D014212 Tretinoin Tretinoin results in increased expression of C9ORF3 mRNAincreases expression 16249480
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 2.0620127859 20464547
MESH:D000236 Adenoma Benzo(a)pyrene 2.886695378
MESH:D000505 Alopecia Tretinoin 3.9815955085
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.7319183758
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 Tretinoin 4.0916197459 16206674
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 2.0620146248 17474063
MESH:D001943 Breast Neoplasms Tretinoin 2.0616166294 16443354 16873071
MESH:D001997 Bronchopulmonary Dysplasia Tretinoin 5.3316813970
MESH:D018236 Carcinoma, Embryonal Tretinoin 6.0316168501
MESH:D006528 Carcinoma, Hepatocellular Tretinoin 1.921917145
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 4.9020419170
MESH:D002294 Carcinoma, Squamous Cell Tretinoin 4.9016096774 16051514
MESH:D002386 Cataract Tretinoin 3.3217460283
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 2.8212371664
MESH:D018290 Cervical Intraepithelial Neoplasia Tretinoin 5.3316129372
MESH:D002779 Cholestasis Cyclosporine 3.2419486331
MESH:D002822 Choriocarcinoma Tretinoin 6.0316461808
MESH:D002972 Cleft Palate Tretinoin 2.819407595
MESH:D003092 Colitis Tretinoin 4.3517035595
MESH:D019465 Craniofacial Abnormalities Tretinoin 1.8316925845 9224671 10589399 9211117 17551590 9142499 9664655 8800419 14991402 9125849
MESH:D004489 Edema, Cardiac Tretinoin 5.3318230668
MESH:D016889 Endometrial Neoplasms Tretinoin 3.3716569247
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 2.0916530937
MESH:D005124 Eye Abnormalities Tretinoin 3.909664655 16938888
MESH:D005234 Fatty Liver Cyclosporine 3.3419224547
MESH:D005355 Fibrosis Cyclosporine 10.9512639820 12168785
MESH:D005355 Fibrosis Tretinoin 10.9517994277
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.968708960
MESH:D005909 Glioblastoma Tretinoin 3.2717312396
MESH:D006258 Head and Neck Neoplasms Tretinoin 3.4616096774
MESH:D006317 Hearing Loss, Noise-Induced Tretinoin 6.0316084493
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 7.3220471113
MESH:D006330 Heart Defects, Congenital Tretinoin 7.3214991402 9664655
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 5.1615720958
MESH:D006930 Hyperalgesia Tretinoin 3.5716870215
MESH:D017681 Hypereosinophilic Syndrome Tretinoin 5.2216778211
MESH:D006973 Hypertension Cyclosporine 2.2310903974
MESH:D007410 Intestinal Diseases Tretinoin 4.4217994277
MESH:D007569 Jaw Abnormalities Tretinoin 4.3917551590 15992940
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 5.3115604871
MESH:D007674 Kidney Diseases Cyclosporine 2.568314463 10903974 18776723
MESH:D007680 Kidney Neoplasms Cyclosporine 3.1212371664
MESH:D007938 Leukemia Tretinoin 2.9517143497
MESH:D007951 Leukemia, Myeloid Tretinoin 4.1816482212 19285840 16932348
MESH:D015470 Leukemia, Myeloid, Acute Tretinoin 2.1319850784 17596541 16294345
MESH:D015473 Leukemia, Promyelocytic, Acute Tretinoin 3.4212679006 16823087 16140955 19225113 9834237 19029980 16331271 16935935 17506722 17649720 17712046 16788101 16766008 17301526 17368321 17294898 17217047 17339181 15748426 19642359 19035177 17107899 19075265 17361223 16891316
MESH:D017880 Limb Deformities, Congenital Tretinoin 3.629224671
MESH:D008106 Liver Cirrhosis, Experimental Tretinoin 1.8116248980 18397230
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 2.1721137059 20195826
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 1.5720869020 18816296 18520028 20464547 17053015 18569708 20064080 6695378 20135361
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:D009062 Mouth Neoplasms Benzo(a)pyrene 3.5316381670
MESH:D009190 Myelodysplastic Syndromes Tretinoin 3.3017596541
MESH:D009369 Neoplasms Benzo(a)pyrene 5.6111141357
MESH:D009369 Neoplasms Tretinoin 5.6116594593 16946489
MESH:D009402 Nephrosis, Lipoid Cyclosporine 5.3117954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.7019348381 18481113
MESH:D009421 Nervous System Malformations Tretinoin 4.369125849
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:D011230 Precancerous Conditions Cyclosporine 3.6412371664
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 2.9017292933
MESH:D011507 Proteinuria Tretinoin 4.1316636307
MESH:D011565 Psoriasis Cyclosporine 2.3416882103
MESH:D011625 Pterygium Tretinoin 5.5416723453
MESH:D012208 Rhabdomyosarcoma Tretinoin 4.6316283617 16116481
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 6.2610029692 19755658
MESH:D012878 Skin Neoplasms Tretinoin 6.2616467112
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 2.4220155912 2093021
MESH:D013274 Stomach Neoplasms Tretinoin 2.4217261132
MESH:D013964 Thyroid Neoplasms Tretinoin 3.3617045167 16026305
MESH:D014062 Tongue Neoplasms Tretinoin 4.2416051514
MESH:D014376 Tuberculosis Tretinoin 3.4716040207
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 2.3117053015
MESH:D002583 Uterine Cervical Neoplasms Tretinoin 4.1216129372
MESH:D014604 Uveal Neoplasms Tretinoin 5.4816752155
MESH:D014605 Uveitis Cyclosporine 4.851336536
MESH:D014820 Vitiligo Tretinoin 4.6416761959
MESH:D009396 Wilms Tumor Tretinoin 4.3916287080
MESH:D014985 Xerophthalmia Cyclosporine 5.3117120751
No data
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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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