AutismKB 2.0

Annotation Detail for CCDC50


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Basic Information Top
Gene Symbol:CCDC50 ( C3orf6,DFNA44,YMER )
Gene Full Name: coiled-coil domain containing 50
Band: 3q28
Quick LinksEntrez ID:152137; OMIM: 611051; Uniprot ID:CCD50_HUMAN; ENSEMBL ID: ENSG00000152492; HGNC ID: 18111
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
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Desease Name
Deafness, autosomal dominant 44
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000082 Acetaminophen Acetaminophen affects the expression of CCDC50 mRNAaffects expression 17562736
D000643 Ammonium Chloride Ammonium Chloride affects the expression of CCDC50 mRNAaffects expression 16483693
D017638 Asbestos, Crocidolite Asbestos, Crocidolite results in increased expression of CCDC50 mRNAincreases expression 18687144
D002251 Carbon Tetrachloride Carbon Tetrachloride affects the expression of CCDC50 mRNAaffects expression 17484886
D016572 Cyclosporine Cyclosporine results in increased expression of CCDC50 mRNAincreases expression 20106945
D004041 Dietary Fats Dietary Fats results in increased expression of CCDC50 mRNAincreases expression 18042831
D004997 Ethinyl Estradiol Ethinyl Estradiol affects the expression of CCDC50 mRNAaffects expression 17555576
D005419 Flavonoids Flavonoids results in decreased expression of CCDC50 mRNAdecreases expression 18035473
D007213 Indomethacin Indomethacin results in increased expression of CCDC50 mRNAincreases expression 16984733
C011890 kojic acid kojic acid results in increased expression of CCDC50 mRNAincreases expression 16595896
C041786 palm oil palm oil results in increased expression of CCDC50 mRNAincreases expression 18042831
D013629 Tamoxifen Tamoxifen affects the expression of CCDC50 mRNAaffects expression 17555576
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000008 Abdominal Neoplasms Tamoxifen 4.7214745880
MESH:D000138 Acidosis Ammonium Chloride 3.7118287403
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.1217505938
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 4.5514692618
MESH:D000230 Adenocarcinoma Indomethacin 4.5516537180
MESH:D000236 Adenoma Indomethacin 3.5111497255
MESH:D016301 Alveolar Bone Loss Indomethacin 5.5517225004
MESH:D000544 Alzheimer Disease Indomethacin 2.7215579461 17627676
MESH:D000799 Angioedema Acetaminophen 4.0210982225
MESH:D001014 Aortic Aneurysm Indomethacin 4.9810231640
MESH:D017544 Aortic Aneurysm, Abdominal Indomethacin 5.0110388637
MESH:D001161 Arteriosclerosis Dietary Fats 10.3815238619
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 10.3811256880
MESH:D018771 Arthralgia Indomethacin 5.342160914
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.7315885639
MESH:D001172 Arthritis, Rheumatoid Indomethacin 2.8411248219
MESH:D001321 Autistic Disorder Acetaminophen 1.4118445737
MESH:D001477 Bartter Syndrome Indomethacin 5.1210684365
MESH:D001929 Brain Edema Indomethacin 5.2011481608
MESH:D002545 Brain Ischemia Indomethacin 4.5712524144
MESH:D001943 Breast Neoplasms Dietary Fats 1.9820435547
MESH:D001943 Breast Neoplasms Indomethacin 1.9817401462
MESH:D001943 Breast Neoplasms Tamoxifen 1.9818821012 19200415 19244106 17893378 16818667 20390343 17440819 19115204 19066611 18815881 18984771 21152245 18855134 19288272 19059307 20859285 16202921 16873071 19142967 19189210 19103187 17261762 19487384 19221464 20065188 19189212 18997820 20544844 21138602 19084267 17242785 19155303 19410462 18629630 18425577 15565566 20005174 15668708 19289846 20135344 17049068 19011961 16273361 11161223 18351453
MESH:D002056 Burns Indomethacin 4.8410459503
MESH:D002100 Cachexia Indomethacin 5.1611239499 16537180 15625704 15141370
MESH:D002252 Carbon Tetrachloride Poisoning Carbon Tetrachloride 3.9218705752 3786805 16011737 16050911 16097048 10355542 16192424 15721981 16124888 16227642 15700767 15673190
MESH:D018270 Carcinoma, Ductal, Breast Tamoxifen 4.6419066611
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 6.723084413
MESH:D006528 Carcinoma, Hepatocellular Carbon Tetrachloride 6.7218788625
MESH:D006528 Carcinoma, Hepatocellular Indomethacin 6.7216391822
MESH:D006528 Carcinoma, Hepatocellular Tamoxifen 6.7216924424
MESH:D018827 Carcinoma, Lewis Lung Indomethacin 4.8811053908
MESH:D018276 Carcinoma, Medullary Indomethacin 5.5118791128 14736730 11352223
MESH:D002292 Carcinoma, Renal Cell Indomethacin 3.4217341418
MESH:D002294 Carcinoma, Squamous Cell Indomethacin 2.8712636206 15482327
MESH:D002295 Carcinoma, Transitional Cell Tamoxifen 3.7217572228
MESH:D002386 Cataract Acetaminophen 2.6410977129
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 2.6012371664
MESH:D002764 Cholecystitis Indomethacin 5.3411181007
MESH:D002779 Cholestasis Cyclosporine 8.0519486331
MESH:D002779 Cholestasis Ethinyl Estradiol 8.0517110522 11677210 17333356 16919318 15861022 17681005 16105132
MESH:D003110 Colonic Neoplasms Indomethacin 2.6115936596 15625704 15786552 11260862 15963497 15637740
MESH:D015179 Colorectal Neoplasms Indomethacin 2.3617054584 12606626 11197048 18059344
MESH:D018352 Coronavirus Infections Indomethacin 5.8917302372
OMIM:607453 DEAFNESS, AUTOSOMAL DOMINANT 44 marker/mechanism
MESH:D003711 Demyelinating Diseases Tamoxifen 4.5019031437
MESH:D003928 Diabetic Nephropathies Tamoxifen 3.5719279558
MESH:D003967 Diarrhea Indomethacin 3.927907874 7237001
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 3.8418713872 12540782 19420014 10915739 2444490 12153990 16109766 11287661 12392966 12705907 19085960 14550746 11743745 17906064 15968718 10663392 16485898 11529661 10774834 12958197 11739529 14986274 19370779 16081117 19164858 16781746 17562736 16227642 19923254 11834606 12594235 14725611 16177239 19416960 15619225 19739265 16393943 18071297 11461765 11421492 17522070
MESH:D056486 Drug-Induced Liver Injury Carbon Tetrachloride 3.8419336974 21278145 6884620 17522070 2869522 9327722 10092053 10915739 15027814 7440962 7179309 15968718 11566570 4309450 16227642 6623471 19085960 16177239 3786805 7120509 3732212 15998439
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.2719426721
MESH:D004374 Ductus Arteriosus, Patent Indomethacin 5.3018446180 18043480 17190690 16133044 16326151 12774134
MESH:D004381 Duodenal Ulcer Indomethacin 4.2616699067 11595431 10671773 17045617 11991626 17202747 17351913 11535926 17151854 11595415 17329845
MESH:D050171 Dyslipidemias Dietary Fats 3.5318367378
MESH:D004487 Edema Indomethacin 3.6116100529 7990266 7907874 10653021 19703484 8985016 8273558
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 9.3712538720
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Tamoxifen 9.3719031437
MESH:D016889 Endometrial Neoplasms Tamoxifen 3.1116202921 20544844 19155303 17893378
MESH:D004715 Endometriosis Indomethacin 4.2515652904
MESH:D019446 Endotoxemia Indomethacin 4.6518509659
MESH:D004751 Enteritis Indomethacin 4.9210567023 16328016 17763956
MESH:D020345 Enterocolitis, Necrotizing Indomethacin 5.1217980183
MESH:D004802 Eosinophilia Indomethacin 4.1911298111
MESH:D004938 Esophageal Neoplasms Indomethacin 2.8311005569
MESH:D005234 Fatty Liver Carbon Tetrachloride 25.9017595544 61145 12795759 16045604 15959796 12631006 16239168 19224547
MESH:D005234 Fatty Liver Cyclosporine 25.9019224547
MESH:D005234 Fatty Liver Dietary Fats 25.9018296743 17967931 19551842 19004024
MESH:D005234 Fatty Liver Ethinyl Estradiol 25.9015345470
MESH:D005234 Fatty Liver Tamoxifen 25.9014986274 19224547
MESH:D052776 Female Urogenital Diseases Tamoxifen 3.3016709447
MESH:D005334 Fever Indomethacin 4.2211852909 17627676 10431976
MESH:D018221 Fibromatosis, Abdominal Tamoxifen 4.6814745880
MESH:D018222 Fibromatosis, Aggressive Tamoxifen 4.3419069698
MESH:D005354 Fibrosarcoma Indomethacin 5.0510962813
MESH:D005355 Fibrosis Carbon Tetrachloride 22.4118705752
MESH:D005355 Fibrosis Cyclosporine 22.4112639820 12168785
MESH:D005355 Fibrosis Dietary Fats 22.4118296743
MESH:D005355 Fibrosis Indomethacin 22.4117994277
MESH:D005499 Folliculitis Indomethacin 5.3411298111
MESH:D005756 Gastritis Acetaminophen 11.7416983495
MESH:D005756 Gastritis Indomethacin 11.7415046732
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.378708960
MESH:D005909 Glioblastoma Indomethacin 3.6312870263
MESH:D005910 Glioma Indomethacin 3.2618371953 16487511
MESH:D005923 Glomerulosclerosis, Focal Segmental Indomethacin 4.3711849393
MESH:D006073 Gout Indomethacin 5.5111248219
MESH:D006258 Head and Neck Neoplasms Indomethacin 3.8115482327
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.5815720958
MESH:D006501 Hepatic Encephalopathy Indomethacin 4.6815633222
MESH:D006505 Hepatitis Carbon Tetrachloride 3.7219900420 19110552
MESH:D019698 Hepatitis C, Chronic Indomethacin 4.8115135802
MESH:D006930 Hyperalgesia Acetaminophen 8.1216870215
MESH:D006930 Hyperalgesia Indomethacin 8.1212727271
MESH:D034321 Hyperamylasemia Indomethacin 5.8917883296
MESH:D006932 Hyperbilirubinemia Carbon Tetrachloride 4.6916899240
MESH:D006937 Hypercholesterolemia Dietary Fats 3.7021332399
MESH:D006940 Hyperemia Indomethacin 5.1612524144
MESH:D006949 Hyperlipidemias Dietary Fats 9.7421332399
MESH:D006949 Hyperlipidemias Indomethacin 9.7417546600
MESH:D006973 Hypertension Cyclosporine 2.1310903974
MESH:D006975 Hypertension, Portal Carbon Tetrachloride 4.2315338365
MESH:D007021 Hypospadias Ethinyl Estradiol 3.9516569931 16945680
MESH:D007077 Ileal Diseases Indomethacin 5.2018306037 10574470
MESH:D007079 Ileitis Indomethacin 5.5110651667 10647630 16133968
MESH:D007235 Infant, Premature, Diseases Indomethacin 5.5516133044
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.5812013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.5617937319
MESH:D007249 Inflammation Dietary Fats 12.4720412841
MESH:D007249 Inflammation Flavonoids 12.4717296493
MESH:D007249 Inflammation Indomethacin 12.477812673 12568917 3291741
MESH:D007249 Inflammation Tamoxifen 12.4719457130
MESH:D007333 Insulin Resistance Dietary Fats 3.1718457598 11836018
MESH:D007410 Intestinal Diseases Indomethacin 4.4617329856 11686837 15831440 11855677 11713966 17994277 10210152 15610444 18236018
MESH:D019586 Intracranial Hypertension Indomethacin 5.5515241188
MESH:D007579 Jejunal Diseases Indomethacin 5.2018306037 16133968 10574470
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.6215604871
MESH:D007674 Kidney Diseases Acetaminophen 10.4215629191 12587719
MESH:D007674 Kidney Diseases Cyclosporine 10.4218776723 10903974 8314463
MESH:D007674 Kidney Diseases Indomethacin 10.4217190690
MESH:D007680 Kidney Neoplasms Cyclosporine 7.6112371664
MESH:D007680 Kidney Neoplasms Tamoxifen 7.6118625569
MESH:D016773 Leishmaniasis, Cutaneous Indomethacin 3.9912228301 11703811 10320625
MESH:D015464 Leukemia, Myelogenous, Chronic, BCR-ABL Positive Indomethacin 4.0016572323 10785260 15631656
MESH:D015470 Leukemia, Myeloid, Acute Indomethacin 2.6518360721
MESH:D007964 Leukocytosis Indomethacin 5.5516537180
MESH:D007969 Leukomalacia, Periventricular Indomethacin 5.8917980183
MESH:D008064 Lipidoses Tamoxifen 3.2315342952 17567588
MESH:D008101 Liver Abscess, Amebic Indomethacin 5.8911479899
MESH:D008103 Liver Cirrhosis Carbon Tetrachloride 6.8217157831 16943688 17174718 16221502 21278145 11408273 11903743 16239168 17334410
MESH:D008103 Liver Cirrhosis Dietary Fats 6.8218296743
MESH:D008106 Liver Cirrhosis, Experimental Carbon Tetrachloride 3.6518395914 14724832 15818738 17565644 17708605 18472094 15362042 14716496 12586293 20821823 10355542 15730626 18210741 16015684 18251166 15931870 15996030 15650968 18339082 15925388 17761835 12632514 17714472 12546737 15123356 17557913 18205269 14748882 18279442 18412020 17721639 17481882 18376398 18277467 12741479 14620537 18187930 12898905 12958196 14512876 17631135 17805973 18156304 18472332 18429990 12445418 15959796 12389079 14716833 12666154 18263696 15370692 17944888 16248980 15057751 17922224 16011737 18481824 17976157 12649538 18418968 18317297 12609069 16136751 18395095 18054572 12667390 18166357 13678700 15673190 17525996 17698563 18420326 17823541 17640975 11481614 12445421 15893842 15876570 17869086 17766677 15338365 17900296 18006644 16097048 16638106 16033810 16192424 12632512 15052691 16027843 18705752 16116963
MESH:D008106 Liver Cirrhosis, Experimental Indomethacin 3.6518194892
MESH:D008106 Liver Cirrhosis, Experimental Tamoxifen 3.6518564211
MESH:D008107 Liver Diseases Acetaminophen 3.9811587558 19014921 16610002 12969438 16611625 19460945 19784758 12587719
MESH:D008107 Liver Diseases Carbon Tetrachloride 3.9816964402 16246199 15720792 15830285 17285989
MESH:D017093 Liver Failure Carbon Tetrachloride 4.3015123358
MESH:D017114 Liver Failure, Acute Acetaminophen 9.7616871587 17185352
MESH:D017114 Liver Failure, Acute Carbon Tetrachloride 9.7614706259 16899240
MESH:D008113 Liver Neoplasms Carbon Tetrachloride 4.7019294768
MESH:D008113 Liver Neoplasms Tamoxifen 4.7016684651
MESH:D008114 Liver Neoplasms, Experimental Carbon Tetrachloride 6.4312014681 15583823
MESH:D008114 Liver Neoplasms, Experimental kojic acid 6.4318544905
MESH:D055370 Lung Injury Asbestos, Crocidolite 4.1617365036
MESH:D008175 Lung Neoplasms Indomethacin 2.6916537180 11497255 11053908
MESH:D008175 Lung Neoplasms Tamoxifen 2.6918625569
MESH:D015674 Mammary Neoplasms, Animal Tamoxifen 3.9119428831
MESH:D008325 Mammary Neoplasms, Experimental Tamoxifen 2.6911731420 19196723 14580682 16827153 19196722
MESH:D020149 Manganese Poisoning Tamoxifen 4.7219453300
MESH:D008545 Melanoma Tamoxifen 1.8912393984 19393235
MESH:D018328 Melanoma, Amelanotic Tamoxifen 4.3415990972
MESH:D008546 Melanoma, Experimental Acetaminophen 3.7119513568
MESH:D008654 Mesothelioma Asbestos, Crocidolite 3.2216166281 16966607 18303189
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 4.9616801185
MESH:D008881 Migraine Disorders Indomethacin 3.7511903285
MESH:D009062 Mouth Neoplasms Indomethacin 4.0712636206
MESH:D009362 Neoplasm Metastasis Indomethacin 6.0811053908 11239499 16537180
MESH:D009362 Neoplasm Metastasis Tamoxifen 6.0819393235
MESH:D009364 Neoplasm Recurrence, Local Tamoxifen 2.5519410462
MESH:D009374 Neoplasms, Experimental Indomethacin 4.2710663608 15625704
MESH:D009376 Neoplasms, Hormone-Dependent Tamoxifen 4.1719189210 19200415 19196722
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.6217954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.3818481113 19348381
MESH:D019636 Neurodegenerative Diseases Acetaminophen 8.7118514411
MESH:D019636 Neurodegenerative Diseases Indomethacin 8.7112349958
MESH:D009765 Obesity Dietary Fats 2.3117217161 20518802 19632207 20132043 21332399 11836018 18674790 16723640 18457598
MESH:D007752 Obstetric Labor, Premature Indomethacin 5.346374098
MESH:D010003 Osteoarthritis Indomethacin 3.737009135
MESH:D010146 Pain Acetaminophen 7.1016870215
MESH:D010146 Pain Indomethacin 7.1013679232 17440234 3291741 17627676
MESH:D010149 Pain, Postoperative Indomethacin 4.8518702446 12538197
MESH:D010195 Pancreatitis Indomethacin 4.0415028970 17883296
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.8011578682
MESH:D010257 Paraneoplastic Syndromes Indomethacin 5.8916537180
MESH:D020734 Parkinsonian Disorders Indomethacin 4.2212349958
MESH:D051302 Paroxysmal Hemicrania Indomethacin 5.8911903285
MESH:D010437 Peptic Ulcer Indomethacin 5.3011148446
MESH:D010518 Periodontitis Indomethacin 5.0917225004
MESH:D010995 Pleural Diseases Asbestos, Crocidolite 5.0310923243
MESH:D011230 Precancerous Conditions Cyclosporine 3.3212371664
MESH:D047928 Premature Birth Indomethacin 5.2717000239
MESH:D011471 Prostatic Neoplasms Tamoxifen 3.1315067354
MESH:D011507 Proteinuria Indomethacin 4.2811849393
MESH:D011537 Pruritus Ethinyl Estradiol 3.4715861022 16919318
MESH:D011565 Psoriasis Cyclosporine 2.2616882103
MESH:D011658 Pulmonary Fibrosis Asbestos, Crocidolite 3.0615814490 17975199 17322281 17365031
MESH:D013088 Spermatocele Ethinyl Estradiol 12.1516709447
MESH:D013088 Spermatocele Tamoxifen 12.1516709447
MESH:D013119 Spinal Cord Injuries Tamoxifen 4.1919457130
MESH:D013272 Stomach Diseases Indomethacin 4.5717160473 10192188 17207306 10215738 15472012 10486359 15038085 16280098 17638125 18545984 16113693 18209964 16184426
MESH:D013274 Stomach Neoplasms Indomethacin 2.3615609394
MESH:D013276 Stomach Ulcer Indomethacin 3.6917657623 15138204 17918041 10750652 17977527 11523592 16631530 16397915 18193104 16252198 16169175 18237397 17895592 15255614 11906479 17627676 11595431 1323529 14567935 10423059 16934674 10878458 12467913 18543354 12787963 15104355 12498302 11145282 18209962 17135157 18726076 12500499 17654042 12077510 11595415 16150113 18087811 16755016 18299717 18431645 11729361 18181030
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.7411994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.2515669648
MESH:D013964 Thyroid Neoplasms Indomethacin 3.6711352223 14736730 18791128
MESH:D014456 Ulcer Indomethacin 5.0517380554 10574470
MESH:D001749 Urinary Bladder Neoplasms Tamoxifen 2.3917572228 8653321 16712894
MESH:D014581 Urticaria Acetaminophen 3.0910982225
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.4214692618
MESH:D014605 Uveitis Cyclosporine 4.161336536
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.6515869587 14671159
MESH:D014839 Vomiting Indomethacin 4.9211897121
MESH:D015430 Weight Gain Dietary Fats 3.8316723640
MESH:D014985 Xerophthalmia Cyclosporine 4.6217120751
No data
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA25902
    • No data
    Releated disease ID Related disease Name
    PA145069467Hearing Loss, nonsyndromic
    Releated drug ID Related drug Name
    PA449177cytarabine
    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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