AutismKB 2.0

Annotation Detail for COCH


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Basic Information Top
Gene Symbol:COCH ( COCH-5B2,COCH5B2,DFNA9 )
Gene Full Name: coagulation factor C homolog, cochlin (Limulus polyphemus)
Band: 14q12
Quick LinksEntrez ID:1690; OMIM: 603196; Uniprot ID:COCH_HUMAN; ENSEMBL ID: ENSG00000100473; HGNC ID: 2180
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
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Desease Name
Deafness, autosomal dominant 9
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C016403 2,4-dinitrotoluene 2,4-dinitrotoluene affects the expression of COCH mRNAaffects expression 21346803
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 COCH mRNAdecreases expression 20018196
D003520 Cyclophosphamide COCH protein affects the susceptibility to Cyclophosphamideaffects response to substance 16217747
D005472 Fluorouracil COCH protein affects the susceptibility to Fluorouracilaffects response to substance 16217747
D016685 Mitomycin COCH protein affects the susceptibility to Mitomycinaffects response to substance 16217747
D008942 Mitoxantrone COCH protein affects the susceptibility to Mitoxantroneaffects response to substance 16217747
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000230 Adenocarcinoma Fluorouracil 2.4817638652
MESH:D000740 Anemia Fluorouracil 4.0217963324 15504547 16511603
MESH:D001161 Arteriosclerosis Cyclophosphamide 5.0215014928
MESH:D001943 Breast Neoplasms Cyclophosphamide 2.5018323546 18234424 11325840 17020986 16978400 17388661 15136595 12006526 15093573
MESH:D001943 Breast Neoplasms Fluorouracil 2.5016110121 15136595 18357371 19217205 18608205 16595493 16557594
MESH:D002276 Carcinoid Tumor Fluorouracil 5.1916051944
MESH:D002277 Carcinoma Fluorouracil 3.8217121937
MESH:D006528 Carcinoma, Hepatocellular 2,4-dinitrotoluene 4.9416705839
MESH:D006528 Carcinoma, Hepatocellular Cyclophosphamide 4.9419701751
MESH:D006528 Carcinoma, Hepatocellular Fluorouracil 4.9417045692 16799960 16332177 18930000 17088986 17971768
MESH:D018827 Carcinoma, Lewis Lung Cyclophosphamide 5.3516152834
MESH:D002292 Carcinoma, Renal Cell Cyclophosphamide 7.2316201981
MESH:D002292 Carcinoma, Renal Cell Fluorouracil 7.2318695887
MESH:D002294 Carcinoma, Squamous Cell Fluorouracil 2.5617066447 16757204 16280240 18986760
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 2.9320889678
MESH:D003110 Colonic Neoplasms Fluorouracil 2.2717018589 16340194 17287894 17169374 17172411 18772588 17016597 17725105 16510598 15001691
MESH:D015179 Colorectal Neoplasms Fluorouracil 2.0020501625 17594712 17255274 18288408 17094418 17016601 14970324 16331619 16391804 15289873 17695437 18949393 18448328 16303861 16524972 17454858 18802399 18383874 16282729 17401013 18509181 15148649
MESH:D003490 Cyanosis 2,4-dinitrotoluene 4.4318551238
MESH:D003556 Cystitis Cyclophosphamide 5.5111948286 10498854 10700343 15276878 12161096 12388444 18710439 16413132 16989017 18093676 17979934 18372110 17010015 15643279 16651033 16614059 18483878 18433785 12913760 18295254
MESH:D007644 Darier Disease Fluorouracil 5.2516733453
OMIM:601369 DEAFNESS, AUTOSOMAL DOMINANT 9 marker/mechanism
MESH:D003921 Diabetes Mellitus, Experimental Cyclophosphamide 4.3311751995 15331540 10990075
MESH:D003922 Diabetes Mellitus, Type 1 Cyclophosphamide 3.2918772604
MESH:D056486 Drug-Induced Liver Injury 2,4-dinitrotoluene 2.0318551238 21346803
MESH:D004802 Eosinophilia Cyclophosphamide 4.6311006010
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 4.7320426865
MESH:D004938 Esophageal Neoplasms Fluorouracil 4.7316481741 15173087 17638652 16337965 16785472
MESH:D005910 Glioma Fluorouracil 2.9716145905
MESH:D018316 Gliosarcoma Cyclophosphamide 5.9811389073
MESH:D006086 Graft vs Host Disease Cyclophosphamide 5.4515172196 16376943 11014644
MESH:D006258 Head and Neck Neoplasms Fluorouracil 3.5915102660 15162350 18337622
MESH:D006331 Heart Diseases Mitoxantrone 4.3616019553
MESH:D006467 Hemophilia A Cyclophosphamide 5.7111918545
MESH:D006504 Hepatic Veno-Occlusive Disease Cyclophosphamide 6.0514986274
MESH:D006689 Hodgkin Disease Cyclophosphamide 4.0717606976 16135485
MESH:D007154 Immune System Diseases Cyclophosphamide 5.8516076520
MESH:D007248 Infertility, Male Cyclophosphamide 3.827193160 16517039
MESH:D007680 Kidney Neoplasms 2,4-dinitrotoluene 8.3916705839
MESH:D007680 Kidney Neoplasms Fluorouracil 8.3916985049
MESH:D007938 Leukemia Cyclophosphamide 3.6210602166
MESH:D015451 Leukemia, Lymphocytic, Chronic, B-Cell Cyclophosphamide 7.3517802794 17658394 17008537 17296974 18172266 18587576
MESH:D015451 Leukemia, Lymphocytic, Chronic, B-Cell Mitoxantrone 7.3518172266
MESH:D015464 Leukemia, Myelogenous, Chronic, BCR-ABL Positive Cyclophosphamide 4.3210373061
MESH:D007970 Leukopenia Cyclophosphamide 5.4310052129 11830472
MESH:D008113 Liver Neoplasms Fluorouracil 5.3915113037 16603448 17045692 18383874
MESH:D008113 Liver Neoplasms Mitomycin 5.3915113037
MESH:D008175 Lung Neoplasms Fluorouracil 2.0115246190
MESH:D008178 Lupus Erythematosus, Cutaneous Fluorouracil 5.2515086387
MESH:D008223 Lymphoma Cyclophosphamide 4.0512854902
MESH:D016393 Lymphoma, B-Cell Cyclophosphamide 4.9516675587
MESH:D008228 Lymphoma, Non-Hodgkin Cyclophosphamide 4.4411911406
MESH:D008546 Melanoma, Experimental Cyclophosphamide 5.2216388313
MESH:D009062 Mouth Neoplasms Fluorouracil 3.8718986760 16757204
MESH:D009336 Necrosis 2,4-dinitrotoluene 4.3218551238
MESH:D009369 Neoplasms Cyclophosphamide 9.3618854779
MESH:D009369 Neoplasms Fluorouracil 9.3618239605 18600527 16928823
MESH:D009369 Neoplasms Mitoxantrone 9.3616640825
MESH:D009447 Neuroblastoma Cyclophosphamide 3.788761367 15176712 16115947
MESH:D017599 Neuroectodermal Tumors Cyclophosphamide 5.3512837982 8761367
MESH:D020258 Neurotoxicity Syndromes Fluorouracil 3.6416436463
MESH:D009503 Neutropenia Cyclophosphamide 4.688291058
MESH:D009784 Occupational Diseases 2,4-dinitrotoluene 3.7312819281 16049721
MESH:D009845 Oligospermia Cyclophosphamide 5.1716517039
MESH:D010146 Pain Cyclophosphamide 3.8918093676 12161096
MESH:D010190 Pancreatic Neoplasms Cyclophosphamide 9.4211332152
MESH:D010190 Pancreatic Neoplasms Fluorouracil 9.4216929163 16500647 15113037 19003803
MESH:D010190 Pancreatic Neoplasms Mitomycin 9.4215113037
MESH:D054198 Precursor Cell Lymphoblastic Leukemia-Lymphoma Cyclophosphamide 3.9621297632
MESH:D011471 Prostatic Neoplasms Cyclophosphamide 3.5117136230
MESH:D011471 Prostatic Neoplasms Fluorouracil 3.5118626508 19082440
MESH:D011658 Pulmonary Fibrosis Cyclophosphamide 3.3816636934
MESH:D012004 Rectal Neoplasms Fluorouracil 4.3018286688 16160472 15538739 18722050
MESH:D012595 Scleroderma, Systemic Cyclophosphamide 5.1716636934
MESH:D012640 Seizures 2,4-dinitrotoluene 2.7318551238
OMIM:102530 SPERMATOGENIC FAILURE 6 Cyclophosphamide 5.9816517039
MESH:D013274 Stomach Neoplasms Fluorouracil 2.0017498489 16424979 16951190 18396642 18567086 17522103 19015929 15786421 19084572 17172411
MESH:D015173 Supratentorial Neoplasms Cyclophosphamide 5.5212837982
MESH:D014062 Tongue Neoplasms Fluorouracil 4.2916280240
MESH:D001749 Urinary Bladder Neoplasms 2,4-dinitrotoluene 5.6716049721
MESH:D001749 Urinary Bladder Neoplasms Cyclophosphamide 5.6714692829
MESH:D014571 Urologic Neoplasms 2,4-dinitrotoluene 4.7810091137
MESH:D002583 Uterine Cervical Neoplasms Fluorouracil 4.1816803524
No data
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA26693
    • Releated gene ID Related gene Name
    PA26693COCH
    No data
    No data
    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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