AutismKB 2.0

Annotation Detail for MAML2


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Basic Information Top
Gene Symbol:MAML2 ( DKFZp686N0150,KIAA1819,MAM-3,MAM2,MAM3,MGC176701,MLL-MAML2 )
Gene Full Name: mastermind-like 2 (Drosophila)
Band: 11q21
Quick LinksEntrez ID:84441; OMIM: 607537; Uniprot ID:MAML2_HUMAN; ENSEMBL ID: ENSG00000184384; HGNC ID: 16259
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04330Notch signaling pathway
Pathway IDPathway Name
Gene Expression
No data
No data
No data
Related Diseases/Disorders Top
No data
No data
Desease Name
response to treatment for acute lymphoblastic leukemia
CHEMDEPENDENCY
PHARMACOGENOMIC
smoking cessation
Desease Name
Response to treatment for acute lymphoblastic leukemia
Desease Name
Mucoepidermoid salivary gland carcinoma
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D017638 Asbestos, Crocidolite Asbestos, Crocidolite affects the expression of MAML2 mRNAaffects expression 17331233
D001564 Benzo(a)pyrene Benzo(a)pyrene results in decreased expression of MAML2 mRNAdecreases expression 20106945
D015123 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide affects the expression of MAML2 mRNAaffects expression 20382639
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 MAML2 mRNAdecreases expression 19150397
20018196
D005472 Fluorouracil Fluorouracil results in increased expression of MAML2 mRNAincreases expression 16510598
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in increased expression of MAML2 mRNAaffects binding|increases activity|increases expression 19710929
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in decreased expression of MAML2 mRNAdecreases expression 20106945
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.3111752688 15322242 14514962
MESH:D055371 Acute Lung Injury pirinixic acid 3.4718653653
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 4.6220127859 20464547
MESH:D000230 Adenocarcinoma Fluorouracil 4.6217638652
MESH:D000236 Adenoma Benzo(a)pyrene 2.826695378
MESH:D018248 Adenoma, Liver Cell pirinixic acid 11.4916434500
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 11.4916835633
MESH:D000740 Anemia Fluorouracil 9.7115504547 17963324 16511603
MESH:D000740 Anemia Tetrachlorodibenzodioxin 9.7111748828
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.4919183758
MESH:D001778 Blood Coagulation Disorders pirinixic acid 9.8719483382
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 9.8712125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.3115340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.9515746008
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 1.8320146248 17474063
MESH:D001943 Breast Neoplasms Fluorouracil 1.8319217205 16110121 15136595 16557594 16595493 18357371 18608205
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.8320435547
MESH:D002276 Carcinoid Tumor Fluorouracil 5.1916051944
MESH:D002277 Carcinoma Fluorouracil 9.0417121937
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 9.0416835633
MESH:D006528 Carcinoma, Hepatocellular Fluorouracil 2.1118930000 17045692 17971768 16332177 17088986 16799960
MESH:D002292 Carcinoma, Renal Cell Fluorouracil 3.1418695887
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 4.8920419170
MESH:D002294 Carcinoma, Squamous Cell Fluorouracil 4.8916757204 16280240 18986760 17066447
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.5218850075 18670907 16120746
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 2.9320889678
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.4516835633
MESH:D002779 Cholestasis pirinixic acid 3.0519176532
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.218697196 15340226 12621046 15668235 16354765
MESH:D003110 Colonic Neoplasms Fluorouracil 2.2717172411 16510598 17725105 17169374 17016597 18772588 17287894 16340194 15001691 17018589
MESH:D015179 Colorectal Neoplasms Fluorouracil 2.0016524972 17016601 17094418 16282729 18448328 16303861 16391804 18383874 15289873 17695437 14970324 16331619 18288408 17401013 17255274 20501625 18949393 18509181 17454858 17594712 15148649 18802399
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.3414669216 17141729
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2610048152 20055451 15322242
MESH:D007644 Darier Disease Fluorouracil 5.2516733453
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5518249437
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7217107852
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 1.6020420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.9911462148
MESH:D004487 Edema pirinixic acid 7.6312083418
MESH:D004487 Edema Tetrachlorodibenzodioxin 7.6311000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.4218230668 15322242 16714409
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.3310568697 9294722
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 7.6220426865
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 7.6216530937
MESH:D004938 Esophageal Neoplasms Fluorouracil 7.6216337965 16785472 15173087 16481741 17638652
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.2411564622
MESH:D005234 Fatty Liver pirinixic acid 3.0920131406 19236843
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.8711858732
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.3620067830
MESH:D005910 Glioma Fluorouracil 2.9716145905
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.1210696789
MESH:D006258 Head and Neck Neoplasms Fluorouracil 3.5915102660 15162350 18337622
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 6.9320471113
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 6.9311294989 10048152
MESH:D006333 Heart Failure pirinixic acid 2.7120558911
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.6611000095
MESH:D006529 Hepatomegaly pirinixic acid 9.6916221962 18467677 19772884 19176532
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 9.6915340226 12621046 16120746
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.5715340226 16354765 8697196 16959395 18606429
MESH:D006943 Hyperglycemia pirinixic acid 3.4920558911
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 2.0018670907 18850075
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 1.9912878042 12200463
MESH:D007333 Insulin Resistance pirinixic acid 2.8216306350
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.6616580747
MESH:D007680 Kidney Neoplasms Fluorouracil 3.5716985049
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 2.2115474484
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 2.2112878042
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 11.5221137059 20195826
MESH:D008113 Liver Neoplasms Fluorouracil 11.5218383874 17045692 16603448 15113037
MESH:D008113 Liver Neoplasms pirinixic acid 11.5220007298 16377806 15890375
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 11.5216984957
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 2.2812151625
MESH:D055370 Lung Injury Asbestos, Crocidolite 4.4417365036
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 3.5320464547 6695378 18816296 20135361 18569708 20064080 18520028 20869020 17053015
MESH:D008175 Lung Neoplasms Fluorouracil 3.5315246190
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 3.5311884234 19555203
MESH:D008178 Lupus Erythematosus, Cutaneous Fluorouracil 5.2515086387
MESH:D008654 Mesothelioma Asbestos, Crocidolite 3.2816166281 18303189 16966607
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 9.3416381670
MESH:D009062 Mouth Neoplasms Fluorouracil 9.3416757204 18986760
MESH:D009135 Muscular Diseases pirinixic acid 3.9216239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.2519151258
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.2712213967
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.1916411023
MESH:D009369 Neoplasms Benzo(a)pyrene 9.0311141357
MESH:D009369 Neoplasms Fluorouracil 9.0318600527 16928823 18239605
MESH:D009369 Neoplasms pirinixic acid 9.0317405874
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.5914600291
MESH:D020258 Neurotoxicity Syndromes Fluorouracil 3.6416436463
MESH:D009765 Obesity pirinixic acid 1.8720558911
MESH:D010190 Pancreatic Neoplasms Fluorouracil 2.7516929163 19003803 15113037 16500647
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.7712520081
MESH:D010995 Pleural Diseases Asbestos, Crocidolite 5.3110923243
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.9418163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.6511399792 11896295 11118676 11222880
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 3.1617292933
MESH:D011471 Prostatic Neoplasms Fluorouracil 3.1618626508 19082440
MESH:D011658 Pulmonary Fibrosis Asbestos, Crocidolite 3.1317322281 17365031 17975199 15814490
MESH:D012004 Rectal Neoplasms Fluorouracil 4.3016160472 18722050 15538739 18286688
MESH:D015427 Reperfusion Injury pirinixic acid 2.5219058328
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.2218990726
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 5.9010029692 19755658
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 5.9016192470
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 2.482093021 20155912
MESH:D013274 Stomach Neoplasms Fluorouracil 2.4819084572 16951190 17172411 18567086 18396642 17498489 16424979 19015929 15786421 17522103
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.4212697716
MESH:D014062 Tongue Neoplasms Fluorouracil 4.2916280240
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 2.2817053015
MESH:D002583 Uterine Cervical Neoplasms Fluorouracil 4.1816803524
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.1212125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.7715886252
Pathway ID Pathway Name
REACT:71 Gene Expression
KEGG:04330 Notch signaling pathway
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA134946327
    • No data
    Releated disease ID Related disease Name
    PA446155Precursor Cell Lymphoblastic Leukemia-Lymphoma
    PA446714Neoplasm, Residual
    PA446155Precursor Cell Lymphoblastic Leukemia-Lymphoma
    No data
    Drug Bank Top

    Simple Query:


      (e.g. CHD8)

    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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