AutismKB 2.0

Annotation Detail for MLL5


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Basic Information Top
Gene Symbol:MLL5 ( FLJ10078,FLJ14026,HDCMC04P,KMT2E,MGC70452 )
Gene Full Name: myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)
Band: 7q22.1
Quick LinksEntrez ID:55904; OMIM: 608444; Uniprot ID:MLL5_HUMAN; ENSEMBL ID: ENSG00000005483; HGNC ID:
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 MLL5 mRNAdecreases expression 19150397
D004958 Estradiol Estradiol results in decreased expression of MLL5 mRNAdecreases expression 20068009
D005472 Fluorouracil MLL5 protein affects the susceptibility to Fluorouracilaffects response to substance 18818388
D010656 Phenylephrine Phenylephrine results in decreased expression of MLL5 mRNAdecreases expression 18158353
C006253 pirinixic acid pirinixic acid results in decreased expression of MLL5 mRNAdecreases expression 17426115
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin affects the expression of MLL5 mRNAaffects expression 18691609
C025643 vinclozolin vinclozolin affects the expression of MLL5 mRNAaffects expression 19015723
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.2414514962 11752688 15322242
MESH:D055371 Acute Lung Injury pirinixic acid 3.4218653653
MESH:D000230 Adenocarcinoma Estradiol 4.6411473722
MESH:D000230 Adenocarcinoma Fluorouracil 4.6417638652
MESH:D018248 Adenoma, Liver Cell pirinixic acid 11.2616434500
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 11.2616835633
MESH:D000740 Anemia Fluorouracil 9.5817963324 15504547 16511603
MESH:D000740 Anemia Tetrachlorodibenzodioxin 9.5811748828
MESH:D001008 Anxiety Disorders vinclozolin 3.8619015723
MESH:D001145 Arrhythmias, Cardiac Phenylephrine 4.3817460149
MESH:D001778 Blood Coagulation Disorders pirinixic acid 9.7319483382
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 9.7312125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.2315340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.9315746008
MESH:D001919 Bradycardia Phenylephrine 4.9415306635
MESH:D001943 Breast Neoplasms Estradiol 1.8514630087 16675129 17289903 19861407 17018787 17261762 18497071 12948864
MESH:D001943 Breast Neoplasms Fluorouracil 1.8516595493 15136595 18608205 18357371 16557594 16110121 19217205
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.8520435547
MESH:D002181 Candidiasis, Vulvovaginal Estradiol 4.8616111702
MESH:D002276 Carcinoid Tumor Fluorouracil 5.1116051944
MESH:D002277 Carcinoma Fluorouracil 8.9417121937
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 8.9416835633
MESH:D006528 Carcinoma, Hepatocellular Estradiol 3.1916924424
MESH:D006528 Carcinoma, Hepatocellular Fluorouracil 3.1916332177 18930000 17045692 17088986 17971768 16799960
MESH:D002292 Carcinoma, Renal Cell Fluorouracil 3.1318695887
MESH:D002294 Carcinoma, Squamous Cell Fluorouracil 2.5518986760 16757204 16280240 17066447
MESH:D006332 Cardiomegaly Phenylephrine 7.3416170337 17124262 17287366 11754973 11179087 15728586
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 7.3418850075 18670907 16120746
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 7.2620889678
MESH:D002471 Cell Transformation, Neoplastic Estradiol 7.2618566989
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.4116835633
MESH:D002779 Cholestasis pirinixic acid 3.0319176532
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.2015668235 15340226 12621046 8697196 16354765
MESH:D003110 Colonic Neoplasms Fluorouracil 2.2716510598 18772588 15001691 17287894 17725105 17018589 17172411 17016597 17169374 16340194
MESH:D015179 Colorectal Neoplasms Fluorouracil 2.0014970324 16331619 18448328 17401013 17255274 16282729 18288408 18509181 17016601 17695437 17594712 16303861 18949393 18383874 15289873 15148649 16391804 17454858 17094418 16524972 20501625 18802399
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.3114669216 17141729
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2620055451 10048152 15322242
MESH:D003456 Cryptorchidism vinclozolin 4.6714966744
MESH:D007644 Darier Disease Fluorouracil 5.1916733453
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5318249437
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7217107852
MESH:D003928 Diabetic Nephropathies Estradiol 3.6619279558
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 1.5920420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.9611462148
MESH:D004487 Edema pirinixic acid 7.4812083418
MESH:D004487 Edema Tetrachlorodibenzodioxin 7.4811000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.3518230668 15322242 16714409
MESH:D016889 Endometrial Neoplasms Estradiol 3.1511473722 18566989 19148513
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.299294722 10568697
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 4.7120426865
MESH:D004938 Esophageal Neoplasms Fluorouracil 4.7116785472 15173087 17638652 16337965 16481741
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.2111564622
MESH:D005234 Fatty Liver pirinixic acid 3.0420131406 19236843
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.8111858732
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.3120067830
MESH:D030342 Genetic Diseases, Inborn vinclozolin 5.3316973722
MESH:D005832 Genital Diseases, Male vinclozolin 5.7416417039
MESH:D005910 Glioma Fluorouracil 2.9616145905
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.0410696789
MESH:D006258 Head and Neck Neoplasms Fluorouracil 3.5618337622 15162350 15102660
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.4611294989 10048152
MESH:D006333 Heart Failure pirinixic acid 2.6920558911
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.6211000095
MESH:D006529 Hepatomegaly pirinixic acid 9.4819772884 18467677 19176532 16221962
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 9.4815340226 12621046 16120746
MESH:D006558 Herpes Genitalis Estradiol 5.4815709030
MESH:D019584 Hot Flashes Estradiol 4.1917088409
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.498697196 16354765 16959395 18606429 15340226
MESH:D006943 Hyperglycemia pirinixic acid 3.4520558911
MESH:D006973 Hypertension Phenylephrine 5.6012717712 8949925
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 5.6018670907 18850075
MESH:D006984 Hypertrophy Phenylephrine 4.8412791704 18502941
MESH:D007248 Infertility, Male vinclozolin 3.2116467254
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 1.9812878042 12200463
MESH:D007333 Insulin Resistance Estradiol 7.7716627594 16393666
MESH:D007333 Insulin Resistance pirinixic acid 7.7716306350
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.6216580747
MESH:D007674 Kidney Diseases Estradiol 2.7215618244
MESH:D007680 Kidney Neoplasms Estradiol 8.2715610895
MESH:D007680 Kidney Neoplasms Fluorouracil 8.2716985049
MESH:D007938 Leukemia marker/mechanism 18818388
MESH:D007951 Leukemia, Myeloid marker/mechanism 18854576
MESH:D007984 Leydig Cell Tumor vinclozolin 5.1316417039
MESH:D008106 Liver Cirrhosis, Experimental Estradiol 3.5214659978 14716833
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 3.5215474484
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 3.5212878042
MESH:D008113 Liver Neoplasms Fluorouracil 7.8916603448 17045692 15113037 18383874
MESH:D008113 Liver Neoplasms pirinixic acid 7.8920007298 16377806 15890375
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 7.8916984957
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 2.2612151625
MESH:D008175 Lung Neoplasms Fluorouracil 2.4115246190
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 2.4119555203 11884234
MESH:D008178 Lupus Erythematosus, Cutaneous Fluorouracil 5.1915086387
MESH:D008325 Mammary Neoplasms, Experimental Estradiol 2.7211807958 11408345 16891317 17203775
MESH:D020149 Manganese Poisoning Estradiol 4.9319453300
MESH:D009062 Mouth Neoplasms Fluorouracil 3.8418986760 16757204
MESH:D009135 Muscular Diseases pirinixic acid 3.8616239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.2419151258
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.2412213967
MESH:D015428 Myocardial Reperfusion Injury Estradiol 8.9616810080
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 8.9616411023
MESH:D009369 Neoplasms Fluorouracil 5.3916928823 18600527 18239605
MESH:D009369 Neoplasms pirinixic acid 5.3917405874
MESH:D009389 Neovascularization, Pathologic Estradiol 4.1317289903
MESH:D009421 Nervous System Malformations Estradiol 10.5816427766 11399458
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 10.5814600291
MESH:D020258 Neurotoxicity Syndromes Fluorouracil 3.6116436463
MESH:D009765 Obesity pirinixic acid 1.8620558911
MESH:D010051 Ovarian Neoplasms Estradiol 2.2919401270
MESH:D010190 Pancreatic Neoplasms Fluorouracil 2.7416929163 19003803 16500647 15113037
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.6912520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.8918163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 10.8411118676 11222880 11896295 11399792
MESH:D011297 Prenatal Exposure Delayed Effects vinclozolin 10.8418220299 19015723 18042343
MESH:D011469 Prostatic Diseases vinclozolin 5.3318220299
MESH:D019048 Prostatic Intraepithelial Neoplasia Estradiol 4.1720887781
MESH:D011471 Prostatic Neoplasms Estradiol 3.2116740699
MESH:D011471 Prostatic Neoplasms Fluorouracil 3.2118626508 19082440
MESH:D011472 Prostatitis vinclozolin 5.3318629315
MESH:D012004 Rectal Neoplasms Fluorouracil 4.2618722050 18286688 15538739 16160472
MESH:D015427 Reperfusion Injury pirinixic acid 2.5019058328
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.1718990726
MESH:D012852 Sinusitis Phenylephrine 5.107327846
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.1516192470
MESH:D013274 Stomach Neoplasms Fluorouracil 2.0019084572 18396642 17172411 17522103 19015929 16951190 18567086 16424979 17498489 15786421
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.3512697716
MESH:D013978 Tibial Fractures Estradiol 5.1319048282
MESH:D014062 Tongue Neoplasms Fluorouracil 4.2516280240
MESH:D002583 Uterine Cervical Neoplasms Fluorouracil 4.1416803524
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.0412125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.6915886252
Pathway ID Pathway Name
KEGG:00310 Lysine degradation
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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