AutismKB 2.0

Annotation Detail for DYSF


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Basic Information Top
Gene Symbol:DYSF ( FER1L1,FLJ00175,FLJ90168,LGMD2B )
Gene Full Name: dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive)
Band: 2p13.2
Quick LinksEntrez ID:8291; OMIM: 603009; Uniprot ID:DYSF_HUMAN; ENSEMBL ID: ENSG00000135636; HGNC ID: 3097
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
No data
No data
Desease Name
protein quantitative trait loci
Desease Name
Protein quantitative trait loci
Desease Name
Muscular dystrophy, limb-girdle, type 2B
Myopathy, distal, with anterior tibial onset
Miyoshi myopathy
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C014211 2,3,7,8-tetrachlorodibenzofuran 2,3,7,8-tetrachlorodibenzofuran affects the expression of DYSF mRNAaffects expression 18343893
D000082 Acetaminophen Acetaminophen affects the expression of DYSF mRNAaffects expression 17562736
D000584 Amiloride Amiloride results in decreased expression of DYSF mRNAdecreases expression 15535137
D002251 Carbon Tetrachloride Carbon Tetrachloride results in increased expression of DYSF mRNAincreases expression 17484886
C014347 decitabine [decitabine affects the methylation of DYSF protein] which affects the expression of DYSF mRNAaffects expression|affects methylation 18381416
C006253 pirinixic acid NCF1 protein promotes the reaction [pirinixic acid results in decreased expression of DYSF mRNA]decreases expression|increases reaction 17950772
C006253 pirinixic acid pirinixic acid results in decreased expression of DYSF mRNAdecreases expression 17950772
C006253 pirinixic acid PPARA protein inhibits the reaction [pirinixic acid results in decreased expression of DYSF mRNA]decreases expression|decreases reaction 17950772
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin affects the expression of DYSF mRNAaffects expression 18343893
D014212 Tretinoin Tretinoin results in increased expression of DYSF mRNAincreases expression 17218384
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.1811752688 14514962 15322242
MESH:D055371 Acute Lung Injury pirinixic acid 3.3818653653
MESH:D018248 Adenoma, Liver Cell pirinixic acid 11.0516434500
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 11.0516835633
MESH:D000505 Alopecia Tretinoin 3.8115955085
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.1711748828
MESH:D000799 Angioedema Acetaminophen 4.2210982225
MESH:D001169 Arthritis, Experimental Tretinoin 3.2116412693
MESH:D001172 Arthritis, Rheumatoid Tretinoin 2.3116292516
MESH:D001249 Asthma Tretinoin 2.4016456186
MESH:D001321 Autistic Disorder Acetaminophen 1.4018445737
MESH:D001471 Barrett Esophagus Tretinoin 4.6816935849
MESH:D001778 Blood Coagulation Disorders pirinixic acid 16.7319483382
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 16.7312125929
MESH:D001778 Blood Coagulation Disorders Tretinoin 16.7316206674 16197459
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.1715340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.9115746008
MESH:D001943 Breast Neoplasms decitabine 1.8818320071 19208741
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.8820435547
MESH:D001943 Breast Neoplasms Tretinoin 1.8816873071 16443354 16166294
MESH:D001997 Bronchopulmonary Dysplasia Tretinoin 4.9316813970
MESH:D002252 Carbon Tetrachloride Poisoning Carbon Tetrachloride 4.0815721981 16050911 15700767 3786805 16227642 10355542 15673190 16011737 16124888 16097048 16192424 18705752
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.9916835633
MESH:D018236 Carcinoma, Embryonal Tretinoin 5.5416168501
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 4.713084413
MESH:D006528 Carcinoma, Hepatocellular Carbon Tetrachloride 4.7118788625
MESH:D006528 Carcinoma, Hepatocellular Tretinoin 4.711917145
MESH:D002294 Carcinoma, Squamous Cell decitabine 4.9619215824
MESH:D002294 Carcinoma, Squamous Cell Tretinoin 4.9616096774 16051514
MESH:D002295 Carcinoma, Transitional Cell Amiloride 5.3114644129
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.4918670907 16120746 18850075
MESH:D002386 Cataract Acetaminophen 7.6610977129
MESH:D002386 Cataract Tretinoin 7.6617460283
MESH:D018290 Cervical Intraepithelial Neoplasia Tretinoin 4.9316129372
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.3816835633
MESH:D002779 Cholestasis pirinixic acid 3.0019176532
MESH:D002822 Choriocarcinoma Tretinoin 5.5416461808
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 6.0515668235 15340226 12621046 8697196 16354765
MESH:D002972 Cleft Palate Tretinoin 6.059407595
MESH:D003092 Colitis Amiloride 11.0312065299
MESH:D003092 Colitis Tretinoin 11.0317035595
MESH:D003110 Colonic Neoplasms decitabine 2.3717616700
MESH:D015179 Colorectal Neoplasms decitabine 2.1018981723
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.2714669216 17141729
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 2.5020055451 15322242 10048152
MESH:D019465 Craniofacial Abnormalities Tretinoin 2.5016925845 10589399 9142499 17551590 9125849 8800419 9664655 9211117 9224671 14991402
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5218249437
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7117107852
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 6.4811287661 14550746 19739265 17562736 10915739 16485898 18071297 16393943 16109766 15619225 19416960 19923254 17906064 19370779 15968718 11461765 11421492 12705907 17522070 12392966 16081117 12153990 16177239 14725611 12958197 12540782 19164858 11529661 16227642 10774834 14986274 2444490 12594235 11739529 11834606 16781746 19420014 11743745 19085960 18713872 10663392
MESH:D056486 Drug-Induced Liver Injury Carbon Tetrachloride 6.487179309 3732212 10915739 19085960 10092053 3786805 15027814 19336974 17522070 15968718 7440962 15998439 16227642 6623471 21278145 7120509 9327722 6884620 2869522 16177239 4309450 11566570
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 6.4820420201
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.4719426721
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.9311462148
MESH:D004487 Edema pirinixic acid 7.3512083418
MESH:D004487 Edema Tetrachlorodibenzodioxin 7.3512711302 11000095
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 13.2315322242 18230668 16714409
MESH:D004489 Edema, Cardiac Tretinoin 13.2318230668
MESH:D004701 Endocrine Gland Neoplasms decitabine 5.4919294695
MESH:D016889 Endometrial Neoplasms Tretinoin 3.2516569247
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.259294722 10568697
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 9.4311564622
MESH:D005124 Eye Abnormalities Tretinoin 9.439664655 16938888
MESH:D005234 Fatty Liver Carbon Tetrachloride 8.4961145 12795759 16239168 12631006 16045604 19224547 15959796 17595544
MESH:D005234 Fatty Liver pirinixic acid 8.4920131406 19236843
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.7611858732
MESH:D005355 Fibrosis Carbon Tetrachloride 16.6318705752
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 16.6320067830
MESH:D005355 Fibrosis Tretinoin 16.6317994277
MESH:D005756 Gastritis Acetaminophen 4.0516983495
MESH:D005909 Glioblastoma Tretinoin 3.1517312396
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.9710696789
MESH:D006130 Growth Disorders Amiloride 4.9019703807
MESH:D006258 Head and Neck Neoplasms decitabine 8.3519215824
MESH:D006258 Head and Neck Neoplasms Tretinoin 8.3516096774
MESH:D006317 Hearing Loss, Noise-Induced Tretinoin 5.5416084493
MESH:D006330 Heart Defects, Congenital 2,3,7,8-tetrachlorodibenzofuran 11.9511294989
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 11.9511294989 10048152
MESH:D006330 Heart Defects, Congenital Tretinoin 11.9514991402 9664655
MESH:D006333 Heart Failure pirinixic acid 2.6720558911
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.5811000095
MESH:D006505 Hepatitis Carbon Tetrachloride 3.8819110552 19900420
MESH:D006529 Hepatomegaly pirinixic acid 9.3016221962 19176532 18467677 19772884
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 9.3015340226 16120746 12621046
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.4215340226 18606429 16354765 16959395 8697196
MESH:D006930 Hyperalgesia Acetaminophen 8.2716870215
MESH:D006930 Hyperalgesia Tretinoin 8.2716870215
MESH:D006932 Hyperbilirubinemia Carbon Tetrachloride 4.8716899240
MESH:D017681 Hypereosinophilic Syndrome Tretinoin 4.8816778211
MESH:D006943 Hyperglycemia pirinixic acid 3.4120558911
MESH:D006973 Hypertension Amiloride 5.8618524855 15174897 19344079
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 5.8618850075 18670907
MESH:D006975 Hypertension, Portal Carbon Tetrachloride 4.3915338365
MESH:D020514 Hypokalemic Periodic Paralysis Amiloride 6.1919822448
MESH:D007248 Infertility, Male decitabine 3.3517581917
MESH:D007249 Inflammation Amiloride 5.8017237260
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 5.8012878042 12200463
MESH:D007333 Insulin Resistance pirinixic acid 2.7816306350
MESH:D007410 Intestinal Diseases Tretinoin 4.0717994277
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 10.7616580747
MESH:D007569 Jaw Abnormalities Tretinoin 10.7615992940 17551590
MESH:D007674 Kidney Diseases Acetaminophen 2.3215629191 12587719
MESH:D007938 Leukemia decitabine 6.7818980019 19235587
MESH:D007938 Leukemia Tretinoin 6.7817143497
MESH:D007951 Leukemia, Myeloid decitabine 10.3819117987 17236224 18454857
MESH:D007951 Leukemia, Myeloid Tretinoin 10.3816482212 19285840 16932348
MESH:D015470 Leukemia, Myeloid, Acute decitabine 4.0917679729 19010910 18460780 18206229 19387464 18704418
MESH:D015470 Leukemia, Myeloid, Acute Tretinoin 4.0917596541 16294345 19850784
MESH:D015477 Leukemia, Myelomonocytic, Chronic decitabine 5.8418055864
MESH:D015473 Leukemia, Promyelocytic, Acute Tretinoin 3.3019075265 17217047 17339181 16140955 16788101 17361223 17294898 17368321 17107899 16935935 19642359 17506722 16823087 19225113 17712046 16891316 15748426 12679006 9834237 17649720 16331271 17301526 19035177 19029980 16766008
MESH:D056929 Liddle Syndrome Amiloride 6.2819344079
MESH:D017880 Limb Deformities, Congenital Tretinoin 3.479224671
MESH:D008103 Liver Cirrhosis Carbon Tetrachloride 2.9216943688 17334410 11903743 16221502 11408273 17174718 16239168 17157831 21278145
MESH:D008106 Liver Cirrhosis, Experimental Carbon Tetrachloride 5.1218317297 16015684 15052691 17698563 17944888 18006644 18418968 13678700 16192424 15730626 12632512 15673190 17631135 17805973 15959796 12898905 17565644 18210741 17640975 15338365 12445421 18279442 17766677 16638106 18263696 17557913 15123356 17823541 16027843 17922224 18339082 12445418 18187930 14620537 15362042 16248980 18166357 18412020 18481824 17721639 12667390 18054572 18429990 14716496 16011737 14512876 15893842 17708605 15650968 12632514 12586293 17761835 18156304 12546737 17525996 15925388 12741479 18395914 15996030 15818738 16116963 15876570 17976157 12666154 18705752 17714472 15057751 10355542 12958196 18205269 16033810 12389079 20821823 18251166 14724832 18376398 12609069 15370692 17900296 16097048 18277467 18472094 11481614 14716833 18395095 17481882 15931870 17869086 18472332 14748882 12649538 16136751 18420326
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 5.1215474484
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 5.1212878042
MESH:D008106 Liver Cirrhosis, Experimental Tretinoin 5.1216248980 18397230
MESH:D008107 Liver Diseases Acetaminophen 4.0712969438 16611625 19784758 12587719 19014921 19460945 11587558 16610002
MESH:D008107 Liver Diseases Carbon Tetrachloride 4.0717285989 16964402 16246199 15720792 15830285
MESH:D017093 Liver Failure Carbon Tetrachloride 4.4715123358
MESH:D017114 Liver Failure, Acute Acetaminophen 10.1816871587 17185352
MESH:D017114 Liver Failure, Acute Carbon Tetrachloride 10.1816899240 14706259
MESH:D008113 Liver Neoplasms Carbon Tetrachloride 7.7919294768
MESH:D008113 Liver Neoplasms pirinixic acid 7.7916377806 20007298 15890375
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 7.7916984957
MESH:D008114 Liver Neoplasms, Experimental Carbon Tetrachloride 6.2312014681 15583823
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 6.2312151625
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 1.2411884234 19555203
MESH:D008223 Lymphoma decitabine 3.5819470736
MESH:D008527 Medulloblastoma Tretinoin 2.8617453147
MESH:D008545 Melanoma decitabine 3.5317785578 16505122
MESH:D008545 Melanoma Tretinoin 3.5316752155
MESH:D008546 Melanoma, Experimental Acetaminophen 3.8719513568
MESH:D008591 Meningomyelocele Tretinoin 4.7316940565
OMIM:254130 MIYOSHI MUSCULAR DYSTROPHY 1 marker/mechanism 15535137
MESH:D009101 Multiple Myeloma decitabine 3.5118172295
MESH:D009135 Muscular Diseases pirinixic acid 3.8116239165
OMIM:253601 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B marker/mechanism 15535137
MESH:D009190 Myelodysplastic Syndromes decitabine 7.9019010910 18608210 16882708 19157545
MESH:D009190 Myelodysplastic Syndromes Tretinoin 7.9017596541
MESH:D009203 Myocardial Infarction pirinixic acid 2.2219151258
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.2112213967
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.1316411023
OMIM:606768 MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET marker/mechanism 15535137
MESH:D009361 Neoplasm Invasiveness Amiloride 5.5814644129
MESH:D009369 Neoplasms decitabine 8.8919470736 17925555 19116145
MESH:D009369 Neoplasms pirinixic acid 8.8917405874
MESH:D009369 Neoplasms Tretinoin 8.8916946489 16594593
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 10.4714600291
MESH:D009421 Nervous System Malformations Tretinoin 10.479125849
MESH:D009436 Neural Tube Defects Tretinoin 3.209142499
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.0718514411
MESH:D009765 Obesity pirinixic acid 1.8620558911
MESH:D010051 Ovarian Neoplasms decitabine 5.1719259094 19331143
MESH:D010051 Ovarian Neoplasms Tretinoin 5.1716936753
MESH:D010146 Pain Acetaminophen 7.2616870215
MESH:D010146 Pain Tretinoin 7.2616870215
MESH:D010190 Pancreatic Neoplasms decitabine 5.6219294695
MESH:D010190 Pancreatic Neoplasms Tretinoin 5.6215976015
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.6212520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.8418163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.5311896295 11118676 11222880 11399792
MESH:D055728 Primary Myelofibrosis decitabine 5.0317616702
MESH:D011507 Proteinuria Tretinoin 3.8616636307
MESH:D011625 Pterygium Tretinoin 5.1316723453
MESH:D015427 Reperfusion Injury pirinixic acid 2.4919058328
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.1218990726
MESH:D012208 Rhabdomyosarcoma decitabine 11.8319155313
MESH:D012208 Rhabdomyosarcoma Tretinoin 11.8316283617 16116481
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 5.8916192470
MESH:D012878 Skin Neoplasms Tretinoin 5.8916467112
MESH:D013274 Stomach Neoplasms decitabine 2.5919037991
MESH:D013274 Stomach Neoplasms Tretinoin 2.5917261132
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.2812697716
MESH:D013964 Thyroid Neoplasms decitabine 7.9117967635
MESH:D013964 Thyroid Neoplasms Tretinoin 7.9117045167 16026305
MESH:D014062 Tongue Neoplasms Tretinoin 4.0216051514
MESH:D014376 Tuberculosis Tretinoin 3.3616040207
MESH:D001749 Urinary Bladder Neoplasms decitabine 2.8017616700 19087683
MESH:D014581 Urticaria Acetaminophen 3.2410982225
MESH:D002583 Uterine Cervical Neoplasms Tretinoin 3.9016129372
MESH:D014604 Uveal Neoplasms decitabine 14.1217785578
MESH:D014604 Uveal Neoplasms Tretinoin 14.1216752155
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.9712125929
MESH:D014820 Vitiligo Tretinoin 4.3416761959
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.6215886252
MESH:D009396 Wilms Tumor Tretinoin 4.1816287080
No data
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA27554
    • No data
    Releated disease ID Related disease Name
    PA445174Osteoarthritis
    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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