AutismKB 2.0

Annotation Detail for MKLN1


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Basic Information Top
Gene Symbol:MKLN1 ( FLJ11162,TWA2 )
Gene Full Name: muskelin 1, intracellular mediator containing kelch motifs
Band: 7q32.3
Quick LinksEntrez ID:4289; OMIM: 605623; Uniprot ID:MKLN1_HUMAN; ENSEMBL ID: ENSG00000128585; HGNC ID: 7109
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
C016403 2,4-dinitrotoluene 2,4-dinitrotoluene affects the expression of MKLN1 mRNAaffects expression 21346803
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene affects the expression of MKLN1 mRNAaffects expression 21346803
D000643 Ammonium Chloride Ammonium Chloride affects the expression of MKLN1 mRNAaffects expression 16483693
D017638 Asbestos, Crocidolite Asbestos, Crocidolite results in increased expression of MKLN1 mRNAincreases expression 18687144
C006780 bisphenol A bisphenol A results in decreased expression of MKLN1 mRNAdecreases expression 20678512
D004997 Ethinyl Estradiol Ethinyl Estradiol affects the expression of MKLN1 mRNAaffects expression 17555576
C006253 pirinixic acid pirinixic acid results in decreased expression of MKLN1 mRNAdecreases expression 18445702
C006253 pirinixic acid pirinixic acid results in increased expression of MKLN1 mRNAincreases expression 18301758
D013629 Tamoxifen Tamoxifen affects the expression of MKLN1 mRNAaffects expression 17555576
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of MKLN1 mRNAincreases expression 19465110
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000008 Abdominal Neoplasms Tamoxifen 4.8714745880
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.1315322242 14514962 11752688
MESH:D000138 Acidosis Ammonium Chloride 3.8418287403
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.2617505938
MESH:D055371 Acute Lung Injury pirinixic acid 3.3418653653
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 1.8514692618
MESH:D018248 Adenoma, Liver Cell pirinixic acid 10.8716434500
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 10.8716835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.1411748828
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.7211256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.7815885639
MESH:D001778 Blood Coagulation Disorders pirinixic acid 9.4619483382
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 9.4612125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.1115340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.8915746008
MESH:D001862 Bone Resorption bisphenol A 4.0711985600
MESH:D001943 Breast Neoplasms bisphenol A 1.8517123778
MESH:D001943 Breast Neoplasms Tamoxifen 1.8519155303 18984771 15668708 19115204 11161223 20005174 19084267 21152245 19011961 20390343 18997820 19059307 19189210 21138602 16202921 16873071 19066611 17261762 17242785 19200415 19142967 19487384 18815881 19103187 17893378 19410462 16818667 19288272 20544844 16273361 19189212 17049068 18821012 17440819 18629630 20859285 20135344 19244106 19221464 18425577 18855134 19289846 18351453 20065188 15565566
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.8520435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.9616835633
MESH:D018270 Carcinoma, Ductal, Breast Tamoxifen 4.7619066611
MESH:D006528 Carcinoma, Hepatocellular 2,4-dinitrotoluene 4.7216705839
MESH:D006528 Carcinoma, Hepatocellular 2,6-dinitrotoluene 4.7216705839
MESH:D006528 Carcinoma, Hepatocellular Tamoxifen 4.7216924424
MESH:D002278 Carcinoma in Situ bisphenol A 5.2717123778
MESH:D002295 Carcinoma, Transitional Cell Tamoxifen 3.8117572228
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.4718670907 18850075 16120746
MESH:D002471 Cell Transformation, Neoplastic 2,6-dinitrotoluene 2.906135515
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.3416835633
MESH:D002779 Cholestasis Ethinyl Estradiol 8.2517333356 17681005 11677210 16919318 17110522 15861022 16105132
MESH:D002779 Cholestasis pirinixic acid 8.2519176532
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.1812621046 15668235 16354765 8697196 15340226
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.2417141729 14669216
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2615322242 10048152 20055451
MESH:D003490 Cyanosis 2,4-dinitrotoluene 11.7718551238
MESH:D003490 Cyanosis 2,6-dinitrotoluene 11.7718551238
MESH:D003711 Demyelinating Diseases Tamoxifen 4.6219031437
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5118249437
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7117107852
MESH:D003928 Diabetic Nephropathies Tamoxifen 3.6619279558
MESH:D056486 Drug-Induced Liver Injury 2,4-dinitrotoluene 6.4718551238 21346803
MESH:D056486 Drug-Induced Liver Injury 2,6-dinitrotoluene 6.4718551238 21346803
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 6.4720420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.9111462148
MESH:D004487 Edema pirinixic acid 7.2312083418
MESH:D004487 Edema Tetrachlorodibenzodioxin 7.2311000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.2216714409 15322242 18230668
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 9.7512538720
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Tamoxifen 9.7519031437
MESH:D016889 Endometrial Neoplasms Tamoxifen 3.1717893378 16202921 20544844 19155303
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.2110568697 9294722
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.1611564622
MESH:D005234 Fatty Liver Ethinyl Estradiol 14.2715345470
MESH:D005234 Fatty Liver pirinixic acid 14.2720131406 19236843
MESH:D005234 Fatty Liver Tamoxifen 14.2714986274 19224547
MESH:D052776 Female Urogenital Diseases Tamoxifen 3.3516709447
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.7111858732
MESH:D018221 Fibromatosis, Abdominal Tamoxifen 4.8114745880
MESH:D018222 Fibromatosis, Aggressive Tamoxifen 4.4719069698
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.2120067830
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.9110696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.4311294989 10048152
MESH:D006333 Heart Failure pirinixic acid 2.6520558911
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.5411000095
MESH:D006529 Hepatomegaly pirinixic acid 9.1419772884 18467677 19176532 16221962
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 9.1412621046 15340226 16120746
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.368697196 18606429 15340226 16959395 16354765
MESH:D006943 Hyperglycemia pirinixic acid 3.3820558911
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 1.9718850075 18670907
MESH:D007021 Hypospadias Ethinyl Estradiol 4.0716569931 16945680
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.6812013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.6217937319
MESH:D007249 Inflammation Tamoxifen 5.2119457130
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 5.2112878042 12200463
MESH:D007333 Insulin Resistance bisphenol A 7.7416393666
MESH:D007333 Insulin Resistance pirinixic acid 7.7416306350
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.5416580747
MESH:D007680 Kidney Neoplasms 2,4-dinitrotoluene 13.4316705839
MESH:D007680 Kidney Neoplasms 2,6-dinitrotoluene 13.4316705839
MESH:D007680 Kidney Neoplasms Tamoxifen 13.4318625569
MESH:D008064 Lipidoses Tamoxifen 3.3015342952 17567588
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 3.5015474484
MESH:D008106 Liver Cirrhosis, Experimental Tamoxifen 3.5018564211
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 3.5012878042
MESH:D008113 Liver Neoplasms 2,6-dinitrotoluene 11.247678174
MESH:D008113 Liver Neoplasms pirinixic acid 11.2416377806 20007298 15890375
MESH:D008113 Liver Neoplasms Tamoxifen 11.2416684651
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 11.2416984957
MESH:D008114 Liver Neoplasms, Experimental 2,6-dinitrotoluene 6.142876784 2876786 6135515
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 6.1412151625
MESH:D055370 Lung Injury Asbestos, Crocidolite 4.2817365036
MESH:D008175 Lung Neoplasms Tamoxifen 2.3018625569
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 2.3019555203 11884234
MESH:D015674 Mammary Neoplasms, Animal Tamoxifen 4.0419428831
MESH:D008325 Mammary Neoplasms, Experimental Tamoxifen 2.7416827153 19196722 19196723 11731420 14580682
MESH:D020149 Manganese Poisoning Tamoxifen 4.8719453300
MESH:D008545 Melanoma Tamoxifen 1.9019393235 12393984
MESH:D018328 Melanoma, Amelanotic Tamoxifen 4.4715990972
MESH:D008654 Mesothelioma Asbestos, Crocidolite 3.2516166281 16966607 18303189
MESH:D009135 Muscular Diseases pirinixic acid 3.7616239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.2119151258
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.1812213967
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.1016411023
MESH:D009336 Necrosis 2,4-dinitrotoluene 11.3218551238
MESH:D009336 Necrosis 2,6-dinitrotoluene 11.327678174 18551238
MESH:D009362 Neoplasm Metastasis Tamoxifen 2.6119393235
MESH:D009364 Neoplasm Recurrence, Local Tamoxifen 2.5719410462
MESH:D009369 Neoplasms pirinixic acid 2.0317405874
MESH:D009376 Neoplasms, Hormone-Dependent Tamoxifen 4.3219200415 19196722 19189210
MESH:D009421 Nervous System Malformations bisphenol A 10.3911399458 16427766
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 10.3914600291
MESH:D009765 Obesity pirinixic acid 1.8520558911
MESH:D009784 Occupational Diseases 2,4-dinitrotoluene 9.5416049721 12819281
MESH:D009784 Occupational Diseases 2,6-dinitrotoluene 9.5416049721
MESH:D010049 Ovarian Diseases bisphenol A 5.2711985600
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.9111578682
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.5712520081
MESH:D010995 Pleural Diseases Asbestos, Crocidolite 5.1510923243
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.8018163543
MESH:D011297 Prenatal Exposure Delayed Effects bisphenol A 10.4810548101
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 10.4811222880 11896295 11118676 11399792
MESH:D019048 Prostatic Intraepithelial Neoplasia bisphenol A 4.4120887781
MESH:D011471 Prostatic Neoplasms bisphenol A 3.2416740699
MESH:D011471 Prostatic Neoplasms Tamoxifen 3.2415067354
MESH:D011537 Pruritus Ethinyl Estradiol 3.6015861022 16919318
MESH:D011629 Puberty, Precocious bisphenol A 5.0710548101
MESH:D011658 Pulmonary Fibrosis Asbestos, Crocidolite 3.0917365031 17975199 15814490 17322281
MESH:D015427 Reperfusion Injury pirinixic acid 2.4719058328
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.0818990726
MESH:D012640 Seizures 2,4-dinitrotoluene 6.3218551238
MESH:D012640 Seizures 2,6-dinitrotoluene 6.3218551238
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.1316192470
MESH:D013088 Spermatocele Ethinyl Estradiol 12.6516709447
MESH:D013088 Spermatocele Tamoxifen 12.6516709447
MESH:D013119 Spinal Cord Injuries Tamoxifen 4.3219457130
MESH:D019966 Substance-Related Disorders bisphenol A 4.2716045194 16684133
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.8411994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.3315669648
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.2212697716
MESH:D001749 Urinary Bladder Neoplasms 2,4-dinitrotoluene 8.7016049721
MESH:D001749 Urinary Bladder Neoplasms 2,6-dinitrotoluene 8.7016049721
MESH:D001749 Urinary Bladder Neoplasms Tamoxifen 8.708653321 16712894 17572228
MESH:D014571 Urologic Neoplasms 2,4-dinitrotoluene 12.9610091137
MESH:D014571 Urologic Neoplasms 2,6-dinitrotoluene 12.9610091137
MESH:D014591 Uterine Diseases bisphenol A 5.3314652134
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.5414692618
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.9112125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.7514671159 15869587
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.5715886252
No data
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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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