AutismKB 2.0

Annotation Detail for MKL1


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Basic Information Top
Gene Symbol:MKL1 ( BSAC,MAL,MRTF-A )
Gene Full Name: megakaryoblastic leukemia (translocation) 1
Band: 22q13.1-q13.2
Quick LinksEntrez ID:57591; OMIM: 606078; Uniprot ID:MKL1_HUMAN; ENSEMBL ID: ENSG00000196588; HGNC ID: 14334
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
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Pathway IDPathway Name
200007RhoA signaling pathway
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Related Diseases/Disorders Top
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Desease Name
height
DEVELOPMENTAL
No data
Desease Name
Megakaryoblastic leukemia, acute
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C016403 2,4-dinitrotoluene 2,4-dinitrotoluene affects the expression of MKL1 mRNAaffects expression 21346803
D000082 Acetaminophen Acetaminophen affects the expression of MKL1 mRNAaffects expression 17562736
D002251 Carbon Tetrachloride Carbon Tetrachloride affects the expression of MKL1 mRNAaffects expression 17484886
D018038 Sodium Selenite Sodium Selenite results in increased expression of MKL1 mRNAincreases expression 18175754
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000799 Angioedema Acetaminophen 4.5710982225
MESH:D001321 Autistic Disorder Acetaminophen 1.4018445737
MESH:D002252 Carbon Tetrachloride Poisoning Carbon Tetrachloride 4.3416097048 15700767 3786805 16192424 18705752 15721981 16124888 16227642 16011737 16050911 10355542 15673190
MESH:D006528 Carcinoma, Hepatocellular 2,4-dinitrotoluene 4.7916705839
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 4.793084413
MESH:D006528 Carcinoma, Hepatocellular Carbon Tetrachloride 4.7918788625
MESH:D002386 Cataract Acetaminophen 2.7910977129
MESH:D019457 Chromosome Breakage Sodium Selenite 5.3115894690
MESH:D003490 Cyanosis 2,4-dinitrotoluene 4.5818551238
MESH:D003920 Diabetes Mellitus Sodium Selenite 4.1516285004
MESH:D056486 Drug-Induced Liver Injury 2,4-dinitrotoluene 9.7821346803 18551238
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 9.7812153990 16109766 18713872 16781746 17562736 17906064 11739529 11421492 11529661 17522070 11834606 18071297 19370779 16081117 19420014 11287661 11743745 19416960 12958197 15968718 15619225 14725611 19923254 12705907 14986274 19739265 2444490 11461765 19164858 10915739 16485898 16177239 16227642 19085960 12392966 14550746 10774834 12594235 16393943 12540782 10663392
MESH:D056486 Drug-Induced Liver Injury Carbon Tetrachloride 9.782869522 10092053 19085960 10915739 16227642 6623471 7440962 6884620 9327722 3732212 16177239 7179309 21278145 19336974 15968718 15027814 17522070 7120509 4309450 15998439 3786805 11566570
MESH:D056486 Drug-Induced Liver Injury Sodium Selenite 9.7815131321
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.8219426721
MESH:D005234 Fatty Liver Carbon Tetrachloride 3.5917595544 12795759 61145 15959796 16045604 16239168 19224547 12631006
MESH:D005355 Fibrosis Carbon Tetrachloride 4.0118705752
MESH:D005756 Gastritis Acetaminophen 4.4016983495
MESH:D006505 Hepatitis Carbon Tetrachloride 4.1019900420 19110552
MESH:D006930 Hyperalgesia Acetaminophen 3.0216870215
MESH:D006932 Hyperbilirubinemia Carbon Tetrachloride 5.1616899240
MESH:D006975 Hypertension, Portal Carbon Tetrachloride 4.6515338365
MESH:D007333 Insulin Resistance Sodium Selenite 3.5214714311
MESH:D007674 Kidney Diseases Acetaminophen 2.4012587719 15629191
MESH:D007680 Kidney Neoplasms 2,4-dinitrotoluene 3.3216705839
MESH:D008103 Liver Cirrhosis Carbon Tetrachloride 3.0017334410 16221502 11408273 17157831 17174718 11903743 16239168 21278145 16943688
MESH:D008106 Liver Cirrhosis, Experimental Carbon Tetrachloride 1.7510355542 17698563 12741479 18006644 12667390 18277467 18481824 18054572 17766677 16638106 18156304 12445418 17525996 18420326 15959796 14620537 15123356 14512876 18339082 17823541 18187930 17869086 18429990 17714472 18263696 17481882 15362042 15730626 12445421 17557913 16248980 14748882 16192424 15931870 12632512 18251166 17631135 12546737 15338365 12649538 18412020 18472332 18418968 14716833 17640975 15818738 15057751 17922224 18705752 12632514 13678700 16097048 15650968 15925388 18205269 16136751 17976157 16015684 17565644 15673190 15052691 18376398 16116963 14716496 18395914 17761835 12958196 18395095 18210741 12898905 15996030 15370692 15893842 16033810 16027843 12666154 17721639 17900296 17944888 12389079 15876570 17708605 18279442 18472094 16011737 12609069 12586293 20821823 17805973 11481614 18166357 14724832 18317297
MESH:D008107 Liver Diseases Acetaminophen 4.1616611625 19784758 12969438 12587719 16610002 19460945 19014921 11587558
MESH:D008107 Liver Diseases Carbon Tetrachloride 4.1616246199 15720792 16964402 17285989 15830285
MESH:D017093 Liver Failure Carbon Tetrachloride 4.7315123358
MESH:D017114 Liver Failure, Acute Acetaminophen 10.7516871587 17185352
MESH:D017114 Liver Failure, Acute Carbon Tetrachloride 10.7514706259 16899240
MESH:D008113 Liver Neoplasms Carbon Tetrachloride 2.3419294768
MESH:D008114 Liver Neoplasms, Experimental Carbon Tetrachloride 2.8412014681 15583823
MESH:D016393 Lymphoma, B-Cell Sodium Selenite 4.5214737004
MESH:D008546 Melanoma, Experimental Acetaminophen 4.1319513568
MESH:D009336 Necrosis 2,4-dinitrotoluene 4.4918551238
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.2118514411
MESH:D009784 Occupational Diseases 2,4-dinitrotoluene 3.8212819281 16049721
MESH:D010146 Pain Acetaminophen 2.7316870215
MESH:D011471 Prostatic Neoplasms Sodium Selenite 3.3318760546
MESH:D012640 Seizures 2,4-dinitrotoluene 2.7918551238
MESH:D001749 Urinary Bladder Neoplasms 2,4-dinitrotoluene 2.4116049721
MESH:D014571 Urologic Neoplasms 2,4-dinitrotoluene 4.9510091137
MESH:D014581 Urticaria Acetaminophen 3.4410982225
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Pharmacogenomics Knowledge Base Top
Drug Bank Top
Drugbank ID Action Drug Name Description
DB08080 - LATRUNCULIN B
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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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