AutismKB 2.0

Annotation Detail for MBNL1


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Basic Information Top
Gene Symbol:MBNL1 ( DKFZp686P06174,EXP,EXP35,EXP40,EXP42,KIAA0428,MBNL )
Gene Full Name: muscleblind-like (Drosophila)
Band: 3q25.1-q25.2
Quick LinksEntrez ID:4154; OMIM: 606516; Uniprot ID:MBNL1_HUMAN; ENSEMBL ID: ENSG00000152601; HGNC ID: 6923
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
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 MBNL1 mRNAdecreases expression 20018196
19150397
D016572 Cyclosporine Cyclosporine results in decreased expression of MBNL1 mRNAdecreases expression 20106945
D004997 Ethinyl Estradiol Ethinyl Estradiol affects the expression of MBNL1 mRNAaffects expression 17555576
D005472 Fluorouracil Fluorouracil results in decreased expression of MBNL1 mRNAdecreases expression 16709241
D007213 Indomethacin Indomethacin results in decreased expression of MBNL1 mRNAdecreases expression 16984733
C051890 irinotecan irinotecan analog results in decreased expression of MBNL1 mRNAdecreases expression 18927307
C011890 kojic acid kojic acid results in decreased expression of MBNL1 mRNAdecreases expression 16595896
D012643 Selenium [Selenium co-treated with Vitamin E] results in decreased expression of MBNL1 mRNAaffects cotreatment|decreases expression 19244175
D012643 Selenium Selenium results in decreased expression of MBNL1 mRNAdecreases expression 19244175
D013629 Tamoxifen Tamoxifen affects the expression of MBNL1 mRNAaffects expression 17555576
D014810 Vitamin E [Selenium co-treated with Vitamin E] results in decreased expression of MBNL1 mRNAaffects cotreatment|decreases expression 19244175
D014810 Vitamin E Vitamin E results in decreased expression of MBNL1 mRNAdecreases expression 19244175
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000008 Abdominal Neoplasms Tamoxifen 4.8114745880
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.2117505938
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 7.3814692618
MESH:D000230 Adenocarcinoma Fluorouracil 7.3817638652
MESH:D000230 Adenocarcinoma Indomethacin 7.3816537180
MESH:D000236 Adenoma Indomethacin 3.5411497255
MESH:D016301 Alveolar Bone Loss Indomethacin 5.6417225004
MESH:D000544 Alzheimer Disease Indomethacin 2.7317627676 15579461
MESH:D000740 Anemia Fluorouracil 3.8717963324 15504547 16511603
MESH:D001014 Aortic Aneurysm Indomethacin 5.0510231640
MESH:D017544 Aortic Aneurysm, Abdominal Indomethacin 5.0910388637
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.6811256880
MESH:D018771 Arthralgia Indomethacin 5.432160914
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.7615885639
MESH:D001172 Arthritis, Rheumatoid Indomethacin 2.8511248219
MESH:D001477 Bartter Syndrome Indomethacin 5.2010684365
MESH:D001929 Brain Edema Indomethacin 5.2911481608
MESH:D002545 Brain Ischemia Indomethacin 4.6512524144
MESH:D001943 Breast Neoplasms Fluorouracil 2.0119217205 16557594 15136595 16110121 16595493 18357371 18608205
MESH:D001943 Breast Neoplasms Indomethacin 2.0117401462
MESH:D001943 Breast Neoplasms Tamoxifen 2.0118855134 19289846 19189212 21152245 17440819 20390343 19115204 19200415 20544844 19066611 18629630 18821012 15668708 19410462 18351453 18425577 19221464 20135344 18815881 20859285 17893378 19244106 19011961 18984771 19487384 19059307 17049068 17242785 16202921 19155303 19084267 16818667 15565566 16873071 19142967 11161223 19189210 20065188 21138602 17261762 19288272 16273361 19103187 20005174 18997820
MESH:D002056 Burns Indomethacin 4.9210459503
MESH:D002100 Cachexia Indomethacin 5.2415141370 16537180 11239499 15625704
MESH:D002252 Carbon Tetrachloride Poisoning Vitamin E 4.1516050911
MESH:D002276 Carcinoid Tumor Fluorouracil 4.9316051944
MESH:D002277 Carcinoma Fluorouracil 3.7017121937
MESH:D018270 Carcinoma, Ductal, Breast Tamoxifen 4.7219066611
MESH:D006528 Carcinoma, Hepatocellular Fluorouracil 4.8416332177 17971768 17045692 16799960 18930000 17088986
MESH:D006528 Carcinoma, Hepatocellular Indomethacin 4.8416391822
MESH:D006528 Carcinoma, Hepatocellular Tamoxifen 4.8416924424
MESH:D018827 Carcinoma, Lewis Lung Indomethacin 4.9611053908
MESH:D018276 Carcinoma, Medullary Indomethacin 5.5918791128 11352223 14736730
MESH:D002292 Carcinoma, Renal Cell Fluorouracil 6.9918695887
MESH:D002292 Carcinoma, Renal Cell Indomethacin 6.9917341418
MESH:D002294 Carcinoma, Squamous Cell Fluorouracil 5.0816757204 16280240 18986760 17066447
MESH:D002294 Carcinoma, Squamous Cell Indomethacin 5.0815482327 12636206
MESH:D002295 Carcinoma, Transitional Cell Tamoxifen 3.7817572228
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 6.9420889678
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 6.9412371664
MESH:D002764 Cholecystitis Indomethacin 5.4311181007
MESH:D002779 Cholestasis Cyclosporine 8.2019486331
MESH:D002779 Cholestasis Ethinyl Estradiol 8.2017681005 17110522 16105132 11677210 16919318 15861022 17333356
MESH:D003092 Colitis Selenium 3.9917936198
MESH:D003110 Colonic Neoplasms Fluorouracil 6.1317016597 15001691 17287894 16510598 17169374 17725105 16340194 17172411 17018589 18772588
MESH:D003110 Colonic Neoplasms Indomethacin 6.1315786552 15936596 15963497 15637740 15625704 11260862
MESH:D003110 Colonic Neoplasms irinotecan 6.1317725105 17287894
MESH:D015179 Colorectal Neoplasms Fluorouracil 3.6517255274 15148649 17094418 17695437 17016601 17401013 15289873 14970324 18949393 20501625 18288408 18383874 18448328 16282729 16391804 16331619 17594712 18802399 18509181 16303861 16524972 17454858
MESH:D015179 Colorectal Neoplasms Indomethacin 3.6512606626 17054584 11197048 18059344
MESH:D015179 Colorectal Neoplasms irinotecan 3.6516303861 18259882 15273666 16391804 17454858 17159606 18509181
MESH:D018352 Coronavirus Infections Indomethacin 5.9817302372
MESH:D019465 Craniofacial Abnormalities Vitamin E 1.9219769572
MESH:D007644 Darier Disease Fluorouracil 5.0316733453
MESH:D003711 Demyelinating Diseases Tamoxifen 4.5819031437
MESH:D003928 Diabetic Nephropathies Tamoxifen 3.6319279558
MESH:D003967 Diarrhea Indomethacin 3.997237001 7907874
MESH:D056486 Drug-Induced Liver Injury Selenium 2.2115131321
MESH:D004374 Ductus Arteriosus, Patent Indomethacin 5.3916133044 18043480 12774134 18446180 16326151 17190690
MESH:D004381 Duodenal Ulcer Indomethacin 4.3317202747 17151854 16699067 17329845 11991626 17045617 11595415 11535926 10671773 17351913 11595431
MESH:C538011 Eales disease Vitamin E 4.979068938
MESH:D004487 Edema Indomethacin 3.6716100529 8985016 7907874 10653021 8273558 7990266 19703484
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 9.6212538720
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Tamoxifen 9.6219031437
MESH:D016889 Endometrial Neoplasms Tamoxifen 3.1517893378 20544844 16202921 19155303
MESH:D004715 Endometriosis Indomethacin 4.3115652904
MESH:D019446 Endotoxemia Indomethacin 4.7418509659
MESH:D004751 Enteritis Indomethacin 5.0110567023 16328016 17763956
MESH:D020345 Enterocolitis, Necrotizing Indomethacin 5.2017980183
MESH:D004802 Eosinophilia Indomethacin 4.2711298111
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 7.5720426865
MESH:D004938 Esophageal Neoplasms Fluorouracil 7.5716481741 15173087 16785472 16337965 17638652
MESH:D004938 Esophageal Neoplasms Indomethacin 7.5711005569
MESH:D005234 Fatty Liver Cyclosporine 14.0819224547
MESH:D005234 Fatty Liver Ethinyl Estradiol 14.0815345470
MESH:D005234 Fatty Liver Tamoxifen 14.0819224547 14986274
MESH:D052776 Female Urogenital Diseases Tamoxifen 3.3316709447
MESH:D005334 Fever Indomethacin 4.2811852909 17627676 10431976
MESH:D018221 Fibromatosis, Abdominal Tamoxifen 4.7614745880
MESH:D018222 Fibromatosis, Aggressive Tamoxifen 4.4219069698
MESH:D005354 Fibrosarcoma Indomethacin 5.1310962813
MESH:D005355 Fibrosis Cyclosporine 9.6212639820 12168785
MESH:D005355 Fibrosis Indomethacin 9.6217994277
MESH:D005499 Folliculitis Indomethacin 5.4311298111
MESH:D005756 Gastritis Indomethacin 5.0115046732
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.468708960
MESH:D005909 Glioblastoma Indomethacin 3.6712870263
MESH:D005910 Glioma Fluorouracil 6.4516145905
MESH:D005910 Glioma Indomethacin 6.4516487511 18371953
MESH:D005923 Glomerulosclerosis, Focal Segmental Indomethacin 4.4211849393
MESH:D006073 Gout Indomethacin 5.5911248219
MESH:D006258 Head and Neck Neoplasms Fluorouracil 8.3715162350 18337622 15102660
MESH:D006258 Head and Neck Neoplasms Indomethacin 8.3715482327
MESH:D006330 Heart Defects, Congenital Vitamin E 3.0716080930
MESH:D006333 Heart Failure Selenium 3.1717162251
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.6615720958
MESH:D006501 Hepatic Encephalopathy Indomethacin 4.7415633222
MESH:D019698 Hepatitis C, Chronic Indomethacin 4.8815135802
MESH:D006548 Hernia, Diaphragmatic Vitamin E 2.7516490937 16863852
MESH:D019584 Hot Flashes Vitamin E 4.2414716179
MESH:D006930 Hyperalgesia Indomethacin 3.9112727271
MESH:D034321 Hyperamylasemia Indomethacin 5.9817883296
MESH:D006940 Hyperemia Indomethacin 5.2412524144
MESH:D006949 Hyperlipidemias Indomethacin 4.3517546600
MESH:D006973 Hypertension Cyclosporine 2.1510903974
MESH:D007021 Hypospadias Ethinyl Estradiol 4.0216945680 16569931
MESH:D007077 Ileal Diseases Indomethacin 5.2918306037 10574470
MESH:D007079 Ileitis Indomethacin 5.5910651667 10647630 16133968
MESH:D007235 Infant, Premature, Diseases Indomethacin 5.6416133044
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.6512013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.5917937319
MESH:D007249 Inflammation Indomethacin 5.573291741 12568917 7812673
MESH:D007249 Inflammation Tamoxifen 5.5719457130
MESH:D007251 Influenza, Human Selenium 11.8616624496
MESH:D007251 Influenza, Human Vitamin E 11.8616624496
MESH:D007410 Intestinal Diseases Indomethacin 4.5418236018 17329856 17994277 15831440 11855677 11713966 11686837 10210152 15610444
MESH:D019586 Intracranial Hypertension Indomethacin 5.6415241188
MESH:D007579 Jejunal Diseases Indomethacin 5.2918306037 16133968 10574470
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.7115604871
MESH:D007674 Kidney Diseases Cyclosporine 10.698314463 10903974 18776723
MESH:D007674 Kidney Diseases Indomethacin 10.6917190690
MESH:D007674 Kidney Diseases Vitamin E 10.6912488133
MESH:D007676 Kidney Failure, Chronic Selenium 4.0616518626
MESH:D007680 Kidney Neoplasms Cyclosporine 13.2812371664
MESH:D007680 Kidney Neoplasms Fluorouracil 13.2816985049
MESH:D007680 Kidney Neoplasms Tamoxifen 13.2818625569
MESH:D016773 Leishmaniasis, Cutaneous Indomethacin 4.0512228301 10320625 11703811
MESH:D015464 Leukemia, Myelogenous, Chronic, BCR-ABL Positive Indomethacin 4.0510785260 16572323 15631656
MESH:D015470 Leukemia, Myeloid, Acute Indomethacin 2.6618360721
MESH:D007964 Leukocytosis Indomethacin 5.6416537180
MESH:D007969 Leukomalacia, Periventricular Indomethacin 5.9817980183
MESH:D008064 Lipidoses Tamoxifen 3.2717567588 15342952
MESH:D008101 Liver Abscess, Amebic Indomethacin 5.9811479899
MESH:D008106 Liver Cirrhosis, Experimental Indomethacin 3.7118194892
MESH:D008106 Liver Cirrhosis, Experimental Tamoxifen 3.7118564211
MESH:D008106 Liver Cirrhosis, Experimental Vitamin E 3.7116169303
MESH:D008113 Liver Neoplasms Fluorouracil 4.8715113037 17045692 16603448 18383874
MESH:D008113 Liver Neoplasms Tamoxifen 4.8716684651
MESH:D008114 Liver Neoplasms, Experimental kojic acid 3.4318544905
MESH:D008171 Lung Diseases Vitamin E 3.2916863852
MESH:D008175 Lung Neoplasms Fluorouracil 5.0415246190
MESH:D008175 Lung Neoplasms Indomethacin 5.0411053908 11497255 16537180
MESH:D008175 Lung Neoplasms Tamoxifen 5.0418625569
MESH:D008175 Lung Neoplasms Vitamin E 5.0411062179
MESH:D008178 Lupus Erythematosus, Cutaneous Fluorouracil 5.0315086387
MESH:D015674 Mammary Neoplasms, Animal Tamoxifen 4.0019428831
MESH:D008325 Mammary Neoplasms, Experimental Selenium 6.4015318939
MESH:D008325 Mammary Neoplasms, Experimental Tamoxifen 6.4011731420 19196722 14580682 19196723 16827153
MESH:D020149 Manganese Poisoning Tamoxifen 4.8119453300
MESH:D008545 Melanoma Tamoxifen 1.9019393235 12393984
MESH:D018328 Melanoma, Amelanotic Tamoxifen 4.4215990972
MESH:D008654 Mesothelioma Selenium 2.8515107826
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.0516801185
MESH:D008881 Migraine Disorders Indomethacin 3.7911903285
MESH:D009062 Mouth Neoplasms Fluorouracil 9.2618986760 16757204
MESH:D009062 Mouth Neoplasms Indomethacin 9.2612636206
MESH:D052016 Mucositis irinotecan 5.2517159606
MESH:D009362 Neoplasm Metastasis Indomethacin 9.9916537180 11239499 11053908
MESH:D009362 Neoplasm Metastasis irinotecan 9.9918259882
MESH:D009362 Neoplasm Metastasis Tamoxifen 9.9919393235
MESH:D009364 Neoplasm Recurrence, Local Tamoxifen 2.5619410462
MESH:D009369 Neoplasms Fluorouracil 2.6818600527 18239605 16928823
MESH:D009374 Neoplasms, Experimental Indomethacin 4.3510663608 15625704
MESH:D009376 Neoplasms, Hormone-Dependent Tamoxifen 4.2619189210 19200415 19196722
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.7117954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.4419348381 18481113
MESH:D009447 Neuroblastoma irinotecan 3.568761367
MESH:D019636 Neurodegenerative Diseases Indomethacin 4.0812349958
MESH:D017599 Neuroectodermal Tumors irinotecan 4.978761367
MESH:D020258 Neurotoxicity Syndromes Fluorouracil 3.5516436463
MESH:D007752 Obstetric Labor, Premature Indomethacin 5.436374098
MESH:D010003 Osteoarthritis Indomethacin 3.767009135
MESH:D010146 Pain Indomethacin 3.6017440234 13679232 3291741 17627676
MESH:D010149 Pain, Postoperative Indomethacin 4.9418702446 12538197
MESH:D010190 Pancreatic Neoplasms Fluorouracil 2.7216929163 16500647 15113037 19003803
MESH:D010195 Pancreatitis Indomethacin 4.1017883296 15028970
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.8711578682
MESH:D010257 Paraneoplastic Syndromes Indomethacin 5.9816537180
MESH:D020734 Parkinsonian Disorders Indomethacin 4.2812349958
MESH:D051302 Paroxysmal Hemicrania Indomethacin 5.9811903285
MESH:D010437 Peptic Ulcer Indomethacin 5.3911148446
MESH:D010518 Periodontitis Indomethacin 5.1817225004
MESH:D010954 Plasmacytoma Selenium 5.1515087411
MESH:D011230 Precancerous Conditions Cyclosporine 3.3712371664
MESH:D047928 Premature Birth Indomethacin 5.3417000239
MESH:D011471 Prostatic Neoplasms Fluorouracil 2.5619082440 18626508
MESH:D011471 Prostatic Neoplasms Tamoxifen 2.5615067354
MESH:D011471 Prostatic Neoplasms Vitamin E 2.5615084515
MESH:D011507 Proteinuria Indomethacin 4.3511849393
MESH:D011537 Pruritus Ethinyl Estradiol 3.5515861022 16919318
MESH:D011565 Psoriasis Cyclosporine 2.2816882103
MESH:D012004 Rectal Neoplasms Fluorouracil 4.1615538739 18722050 18286688 16160472
MESH:D012871 Skin Diseases Vitamin E 2.4818709164
MESH:D013088 Spermatocele Ethinyl Estradiol 12.4616709447
MESH:D013088 Spermatocele Tamoxifen 12.4616709447
MESH:D013119 Spinal Cord Injuries Tamoxifen 4.2819457130
MESH:D013272 Stomach Diseases Indomethacin 4.6515472012 16184426 17160473 17638125 15038085 16280098 10215738 18545984 17207306 16113693 10486359 18209964 10192188
MESH:D013274 Stomach Neoplasms Fluorouracil 3.6215786421 17522103 16951190 18396642 17498489 16424979 18567086 19015929 19084572 17172411
MESH:D013274 Stomach Neoplasms Indomethacin 3.6215609394
MESH:D013274 Stomach Neoplasms irinotecan 3.6215723263
MESH:D013276 Stomach Ulcer Indomethacin 3.7516397915 18209962 12498302 17654042 10878458 10423059 12467913 18726076 18299717 16252198 18431645 12500499 17895592 11145282 18087811 18181030 17977527 16934674 12077510 1323529 16631530 11595415 11729361 15255614 15138204 18193104 17918041 16169175 17135157 17657623 10750652 12787963 17627676 11595431 15104355 11523592 11906479 18237397 16755016 14567935 16150113 18543354
MESH:D020521 Stroke Vitamin E 3.6616517955
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.8011994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.3015669648
MESH:D013964 Thyroid Neoplasms Indomethacin 3.7118791128 14736730 11352223
MESH:D014062 Tongue Neoplasms Fluorouracil 4.1516280240
MESH:D014456 Ulcer Indomethacin 5.1310574470 17380554
MESH:D001749 Urinary Bladder Neoplasms Tamoxifen 2.4116712894 8653321 17572228
MESH:D002583 Uterine Cervical Neoplasms Fluorouracil 4.0416803524
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.5014692618
MESH:D014605 Uveitis Cyclosporine 4.251336536
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.7114671159 15869587
MESH:D014839 Vomiting Indomethacin 5.0111897121
MESH:D014985 Xerophthalmia Cyclosporine 4.7117120751
No data
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA30666
    • No data
    Releated disease ID Related disease Name
    PA445031Myotonic Dystrophy
    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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