AutismKB 2.0

Annotation Detail for BLM


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:BLM ( BS,MGC126616,MGC131618,MGC131620,RECQ2,RECQL2,RECQL3 )
Gene Full Name: Bloom syndrome, RecQ helicase-like
Band: 15q26.1
Quick LinksEntrez ID:641; OMIM: 604610; Uniprot ID:BLM_HUMAN; ENSEMBL ID: ENSG00000197299; HGNC ID: 1058
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa03440Homologous recombination
No data
Pathway IDPathway Name
200072Regulation of Telomerase
No data
No data
Related Diseases/Disorders Top
Desease IDDesease Name
H00094DNA repair defect
Immune system diseases
Inherited disorders of DNA repair systems
Primary immunodeficiency
H00296Defects in RecQ helicases
Genetic disorders
Desease IDDesease Name
1720Fanconi's anemia
1750Endocrine system disease
1809HIV infection
1848Embryoma
1841Stomach cancer
2011Leukoencephalopathy
2051Leukemia
2053Colon cancer
2066Lung cancer
Desease Name
Bloom's syndrome
No data
Desease Name
Bloom syndrome
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000082 Acetaminophen Acetaminophen results in decreased expression of BLM mRNAdecreases expression 17942131
D001151 Arsenic Arsenic results in decreased expression of BLM mRNAdecreases expression 19945496
D001564 Benzo(a)pyrene Benzo(a)pyrene results in decreased expression of BLM mRNAdecreases expression 20064835
D001564 Benzo(a)pyrene Benzo(a)pyrene results in decreased expression of BLM mRNAdecreases expression 17942131
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 BLM mRNAdecreases expression 20382639
19150397
C006780 bisphenol A bisphenol A results in increased expression of BLM mRNAincreases expression 17268063
C006780 bisphenol A fulvestrant inhibits the reaction [bisphenol A results in increased expression of BLM mRNA]decreases reaction|increases expression 17268063
C005961 bis(tri-n-butyltin)oxide bis(tri-n-butyltin)oxide results in decreased expression of BLM mRNAdecreases expression 17942131
D016572 Cyclosporine Cyclosporine results in decreased expression of BLM mRNAdecreases expression 20106945
D016572 Cyclosporine Cyclosporine results in decreased expression of BLM mRNAdecreases expression 17942131
D004958 Estradiol Estradiol results in increased expression of BLM mRNAincreases expression 17268063
D004958 Estradiol fulvestrant inhibits the reaction [Estradiol results in increased expression of BLM mRNA]decreases reaction|increases expression 17268063
D005038 Ethylnitrosourea Ethylnitrosourea results in increased mutagenesis of BLM exonincreases mutagenesis 17156454
C070081 fulvestrant fulvestrant inhibits the reaction [bisphenol A results in increased expression of BLM mRNA]decreases reaction|increases expression 17268063
C070081 fulvestrant fulvestrant inhibits the reaction [Estradiol results in increased expression of BLM mRNA]decreases reaction|increases expression 17268063
C533894 LG 100815 LG 100815 results in decreased expression of BLM mRNAdecreases expression 16951191
C062198 octa-2,4,6-trienoic acid octa-2,4,6-trienoic acid results in decreased expression of BLM mRNAdecreases expression 16951191
C496197 trans-10,cis-12-conjugated linoleic acid trans-10,cis-12-conjugated linoleic acid results in decreased expression of BLM mRNAdecreases expression 17951470
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 4.3420464547 20127859
MESH:D000230 Adenocarcinoma Estradiol 4.3411473722
MESH:D000236 Adenoma Benzo(a)pyrene 7.106695378
MESH:D000236 Adenoma Ethylnitrosourea 7.106695378
MESH:D018246 Adrenocortical Adenoma Arsenic 5.3517306315
MESH:D000799 Angioedema Acetaminophen 3.9810982225
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.1819183758
MESH:D020261 Arsenic Poisoning Arsenic 2.8916835338 18414634 16251483 12569548
MESH:D050197 Atherosclerosis Arsenic 3.2912928151 19371607
MESH:D001284 Atrophy fulvestrant 4.9411514358
MESH:D001321 Autistic Disorder Acetaminophen 1.4118445737
MESH:D001816 Bloom Syndrome marker/mechanism
MESH:D001862 Bone Resorption bisphenol A 3.9411985600
MESH:D001927 Brain Diseases Ethylnitrosourea 4.9614991843
MESH:D001932 Brain Neoplasms Ethylnitrosourea 4.3716357521 16651633 16436596 18412241 15144691
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 2.0117474063 20146248
MESH:D001943 Breast Neoplasms bisphenol A 2.0117123778
MESH:D001943 Breast Neoplasms Estradiol 2.0118497071 16675129 19861407 12948864 17261762 17289903 17018787 14630087
MESH:D001943 Breast Neoplasms fulvestrant 2.0118984771
MESH:D002181 Candidiasis, Vulvovaginal Estradiol 4.5816111702
MESH:D002280 Carcinoma, Basal Cell Arsenic 3.6315504454 17687452
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 4.653084413
MESH:D006528 Carcinoma, Hepatocellular Arsenic 4.6517306315 16507464
MESH:D006528 Carcinoma, Hepatocellular Estradiol 4.6516924424
MESH:D002278 Carcinoma in Situ bisphenol A 5.1117123778
MESH:D002294 Carcinoma, Squamous Cell Arsenic 4.7918922899 15504454 17687452
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 4.7920419170
MESH:D002295 Carcinoma, Transitional Cell Arsenic 4.1518640142
MESH:D002318 Cardiovascular Diseases Arsenic 3.5015738583 17938729 19152805
MESH:D002340 Carotid Artery Diseases Arsenic 4.3816973168 18022660
MESH:D002386 Cataract Acetaminophen 2.6310977129
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 16.5220889678
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 16.5212371664
MESH:D002471 Cell Transformation, Neoplastic Estradiol 16.5218566989
MESH:D002471 Cell Transformation, Neoplastic Ethylnitrosourea 16.5216003739
MESH:D016543 Central Nervous System Neoplasms Ethylnitrosourea 6.1217160924
MESH:D002779 Cholestasis Cyclosporine 2.9719486331
MESH:D003928 Diabetic Nephropathies Estradiol 3.4819279558
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 1.6116781746 17906064 10663392 16177239 18713872 18071297 19416960 15968718 11461765 19085960 14725611 11287661 11739529 12705907 11743745 10915739 19739265 16081117 12594235 16109766 11834606 12392966 15619225 16485898 14550746 14986274 2444490 16227642 17522070 12958197 19164858 17562736 19420014 11421492 10774834 19923254 12153990 16393943 12540782 11529661 19370779
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.2319426721
MESH:D004476 Ectodermal Dysplasia Ethylnitrosourea 6.1218357618
MESH:D016889 Endometrial Neoplasms Estradiol 3.0311473722 19148513 18566989
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 4.4120426865
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 4.4116530937
MESH:D005234 Fatty Liver Cyclosporine 2.9419224547
MESH:D005355 Fibrosis Cyclosporine 3.2412639820 12168785
MESH:D005534 Foot Diseases Arsenic 5.696392382
MESH:D005756 Gastritis Acetaminophen 3.8116983495
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.348708960
MESH:D005909 Glioblastoma Ethylnitrosourea 3.8816436596
MESH:D005910 Glioma Ethylnitrosourea 3.5216357521 18412241 16651633
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 2.6920471113
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.5415720958
MESH:D006558 Herpes Genitalis Estradiol 5.1715709030
MESH:D019584 Hot Flashes Estradiol 3.8917088409
MESH:D006930 Hyperalgesia Acetaminophen 2.7616870215
MESH:D017488 Hyperkeratosis, Epidermolytic Arsenic 4.5317050553
MESH:D006973 Hypertension Arsenic 5.3916076760 11953799 9931084
MESH:D006973 Hypertension Cyclosporine 5.3910903974
MESH:D006987 Hypesthesia Arsenic 5.6916093927
MESH:D007248 Infertility, Male fulvestrant 3.8011514358
MESH:D007333 Insulin Resistance bisphenol A 7.6116393666
MESH:D007333 Insulin Resistance Estradiol 7.6116393666 16627594
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.5815604871
MESH:D007642 Keratosis Arsenic 5.1116930632 12749816
MESH:D007674 Kidney Diseases Acetaminophen 10.2415629191 12587719
MESH:D007674 Kidney Diseases Cyclosporine 10.2410903974 8314463 18776723
MESH:D007674 Kidney Diseases Estradiol 10.2415618244
MESH:D007680 Kidney Neoplasms Cyclosporine 12.9012371664
MESH:D007680 Kidney Neoplasms Estradiol 12.9015610895
MESH:D007680 Kidney Neoplasms Ethylnitrosourea 12.9017379185
MESH:D015473 Leukemia, Promyelocytic, Acute Arsenic 3.6017339181
MESH:D008106 Liver Cirrhosis, Experimental Estradiol 1.6814659978 14716833
MESH:D008107 Liver Diseases Acetaminophen 4.1319784758 16611625 19460945 12969438 19014921 12587719 11587558 16610002
MESH:D008107 Liver Diseases Arsenic 4.1311134558
MESH:D017114 Liver Failure, Acute Acetaminophen 3.3117185352 16871587
MESH:D008113 Liver Neoplasms Arsenic 4.7816368122
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 4.7821137059 20195826
MESH:D008175 Lung Neoplasms Arsenic 3.6417976673 17306315 19168569
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 3.6420464547 17053015 18569708 18520028 18816296 20064080 6695378 20869020 20135361
MESH:D008175 Lung Neoplasms Ethylnitrosourea 3.646695378 16271038 16019985 17703301
MESH:D008223 Lymphoma Ethylnitrosourea 4.0015790496
MESH:D016399 Lymphoma, T-Cell Ethylnitrosourea 5.1515375218
MESH:D008325 Mammary Neoplasms, Experimental Estradiol 6.4611408345 11807958 17203775 16891317
MESH:D008325 Mammary Neoplasms, Experimental Ethylnitrosourea 6.4618041768 10838139 10767621
MESH:D020149 Manganese Poisoning Estradiol 4.6219453300
MESH:D008546 Melanoma, Experimental Acetaminophen 3.6719513568
MESH:D008579 Meningioma Ethylnitrosourea 6.1217943659
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 4.9216801185
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.2516381670
MESH:D017202 Myocardial Ischemia Arsenic 4.0515371236
MESH:D015428 Myocardial Reperfusion Injury Estradiol 3.3416810080
MESH:D009369 Neoplasms Benzo(a)pyrene 2.2011141357
MESH:D009374 Neoplasms, Experimental Ethylnitrosourea 4.5016707424
MESH:D009389 Neovascularization, Pathologic Estradiol 3.8517289903
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.5817954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.3619348381 18481113
MESH:D009421 Nervous System Malformations bisphenol A 10.0616427766 11399458
MESH:D009421 Nervous System Malformations Estradiol 10.0616427766 11399458
MESH:D009436 Neural Tube Defects Arsenic 3.5016620997
MESH:D009442 Neurilemmoma Ethylnitrosourea 5.5316651423 17160924 16003739
MESH:D019636 Neurodegenerative Diseases Acetaminophen 2.9418514411
MESH:D020078 Neurogenic Inflammation Arsenic 4.4617056641
MESH:D009837 Oligodendroglioma Ethylnitrosourea 6.1217160924
MESH:D010049 Ovarian Diseases bisphenol A 5.1111985600
MESH:D010051 Ovarian Neoplasms Arsenic 5.0317306315
MESH:D010051 Ovarian Neoplasms Estradiol 5.0319401270
MESH:D010146 Pain Acetaminophen 2.4616870215
MESH:D010523 Peripheral Nervous System Diseases Arsenic 4.2716093927
MESH:D016491 Peripheral Vascular Diseases Arsenic 5.1116905509 6392382 15371236
MESH:D011230 Precancerous Conditions Cyclosporine 3.2912371664
MESH:D011297 Prenatal Exposure Delayed Effects bisphenol A 4.0710548101
MESH:D019048 Prostatic Intraepithelial Neoplasia bisphenol A 10.8320887781
MESH:D019048 Prostatic Intraepithelial Neoplasia Estradiol 10.8320887781
MESH:D011471 Prostatic Neoplasms Arsenic 2.0716140617
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 2.0717292933
MESH:D011471 Prostatic Neoplasms bisphenol A 2.0716740699
MESH:D011471 Prostatic Neoplasms Estradiol 2.0716740699
MESH:D011507 Proteinuria Arsenic 4.0921343184
MESH:D011565 Psoriasis Cyclosporine 2.2516882103
MESH:D011629 Puberty, Precocious bisphenol A 4.9010548101
MESH:D012871 Skin Diseases Arsenic 2.7616759981 15952646 17453740 19834688 6392382 17050553 18709164 17548696 16353154 17938729 16702368
MESH:D012878 Skin Neoplasms Arsenic 5.9517976673 19538983 17029826 16251483 15504454 17050553
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 5.9519755658 10029692
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 1.5620155912 2093021
MESH:D019966 Substance-Related Disorders bisphenol A 4.1016045194 16684133
MESH:D013953 Thymus Neoplasms Ethylnitrosourea 5.2815790496
MESH:D013978 Tibial Fractures Estradiol 4.8219048282
MESH:D001749 Urinary Bladder Neoplasms Arsenic 5.2617306315 15987713 18640142 17976673 19429237 19322015 11144890
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 5.2617053015
MESH:D014581 Urticaria Acetaminophen 3.0610982225
MESH:D014591 Uterine Diseases bisphenol A 5.1414652134
MESH:D014605 Uveitis Cyclosporine 4.121336536
MESH:D014652 Vascular Diseases Arsenic 4.8517056641
MESH:D014985 Xerophthalmia Cyclosporine 4.5817120751
Pathway ID Pathway Name
KEGG:03440 Homologous recombination
REACT:27271 Meiotic Recombination
REACT:27235 Meiotic Recombination (mouse)
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA25369
    • No data
    Releated disease ID Related disease Name
    PA443527Bloom Syndrome
    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


    Copyright © 2017, Center for Bioinformatics , Peking University | All Rights Reserved