AutismKB 2.0

Annotation Detail for BLK


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Basic Information Top
Gene Symbol:BLK ( MGC10442,MODY11 )
Gene Full Name: B lymphoid tyrosine kinase
Band: 8p23.1
Quick LinksEntrez ID:640; OMIM: 191305; Uniprot ID:BLK_HUMAN; ENSEMBL ID: ENSG00000136573; HGNC ID: 1057
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
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Pathway IDPathway Name
200033Signaling events mediated by PTP1B
200187Alpha-synuclein signaling
200121EPHA forward signaling
200127PDGFR-beta signaling pathway
200069Thromboxane A2 receptor signaling
200173Ephrin B reverse signaling
200021Glypican 1 network
Pathway IDPathway Name
P00049Parkinson disease
No data
Related Diseases/Disorders Top
No data
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Desease Name
rheumatoid arthritis
systemic lupus erythematosus
IMMUNE
Desease Name
Rheumatoid arthritis
Systemic lupus erythematosus
Desease Name
Maturity-onset diabetes of the young, type 11
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D001151 Arsenic [Arsenic co-treated with Fluorides] results in decreased expression of BLK mRNAaffects cotreatment|decreases expression 19962721
D001374 Azacitidine Azacitidine results in increased expression of BLK mRNAincreases expression 15547111
D002330 Carmustine Carmustine results in decreased expression of BLK mRNAdecreases expression 15980968
D005459 Fluorides [Arsenic co-treated with Fluorides] results in decreased expression of BLK mRNAaffects cotreatment|decreases expression 19962721
D007530 Isoflurane Isoflurane results in decreased expression of BLK mRNAdecreases expression 16978161
D010424 Pentobarbital Pentobarbital results in decreased expression of BLK mRNAdecreases expression 16978161
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in decreased expression of BLK mRNAaffects binding|decreases expression|increases activity 19710929
D015032 Zinc Zinc results in increased expression of BLK mRNAincreases expression 15226459
D019287 Zinc Sulfate Zinc Sulfate results in increased expression of BLK mRNAincreases expression 15226459
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000138 Acidosis Zinc Sulfate 5.197265320
MESH:D000169 Acrodermatitis Zinc 5.6917190629 16889938 17202136
MESH:D055371 Acute Lung Injury pirinixic acid 3.3418653653
MESH:D018248 Adenoma, Liver Cell pirinixic acid 3.7616434500
MESH:D018246 Adrenocortical Adenoma Arsenic 5.5317306315
MESH:D000544 Alzheimer Disease Zinc 2.7916410023 17119284 16580781 16325427
MESH:D000755 Anemia, Sickle Cell Zinc 5.1416916123
MESH:D000860 Anoxia Zinc Sulfate 5.307265320
MESH:D001008 Anxiety Disorders Pentobarbital 4.8918313124 11141031
MESH:D020261 Arsenic Poisoning Arsenic 2.9118414634 16251483 12569548 16835338
MESH:D001172 Arthritis, Rheumatoid marker/mechanism 20453842
MESH:D001249 Asthma Zinc 3.0017085522
MESH:D050197 Atherosclerosis Arsenic 3.3612928151 19371607
MESH:D001778 Blood Coagulation Disorders pirinixic acid 3.3519483382
MESH:D001930 Brain Injuries Zinc 4.9517109824
MESH:D001932 Brain Neoplasms Carmustine 4.5816187019
MESH:D002280 Carcinoma, Basal Cell Arsenic 3.6917687452 15504454
MESH:D006528 Carcinoma, Hepatocellular Arsenic 2.3016507464 17306315
MESH:D002294 Carcinoma, Squamous Cell Arsenic 5.2015504454 18922899 17687452
MESH:D002294 Carcinoma, Squamous Cell Zinc 5.2016543248
MESH:D002295 Carcinoma, Transitional Cell Arsenic 4.2718640142
MESH:D002318 Cardiovascular Diseases Arsenic 8.1015738583 19152805 17938729
MESH:D002318 Cardiovascular Diseases Zinc 8.1016936243
MESH:D002340 Carotid Artery Diseases Arsenic 4.4916973168 18022660
MESH:D002779 Cholestasis pirinixic acid 2.9719176532
MESH:D015179 Colorectal Neoplasms Azacitidine 2.7219934284
MESH:D019465 Craniofacial Abnormalities Zinc 2.4419302082
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5118249437
MESH:D003920 Diabetes Mellitus Zinc 4.3916479319
MESH:D004487 Edema pirinixic acid 2.6812083418
MESH:D004938 Esophageal Neoplasms Zinc 2.9016543248
MESH:D005234 Fatty Liver pirinixic acid 2.9719236843 20131406
MESH:D005534 Foot Diseases Arsenic 5.886392382
MESH:D005756 Gastritis Zinc 5.1117241300
MESH:D005909 Glioblastoma Carmustine 4.0516187019
MESH:D006130 Growth Disorders Zinc 4.0817217573
MESH:D006333 Heart Failure pirinixic acid 7.5420558911
MESH:D006333 Heart Failure Zinc 7.5417162251
MESH:D006335 Heart Injuries Zinc 6.0917074742
MESH:D016481 Helicobacter Infections Zinc 4.7517241300
MESH:D006527 Hepatolenticular Degeneration Zinc 12.2017276780
MESH:D006527 Hepatolenticular Degeneration Zinc Sulfate 12.2017063115
MESH:D006529 Hepatomegaly pirinixic acid 3.2519176532 18467677 16221962 19772884
MESH:D006943 Hyperglycemia pirinixic acid 3.3820558911
MESH:D017488 Hyperkeratosis, Epidermolytic Arsenic 4.6517050553
MESH:D006973 Hypertension Arsenic 2.939931084 11953799 16076760
MESH:D006987 Hypesthesia Arsenic 5.8816093927
MESH:D007022 Hypotension Isoflurane 10.5612967683
MESH:D007022 Hypotension Zinc Sulfate 10.567265320
MESH:D007333 Insulin Resistance pirinixic acid 2.7616306350
MESH:D007511 Ischemia Zinc 4.8916584753
MESH:D007642 Keratosis Arsenic 5.2812749816 16930632
MESH:D007674 Kidney Diseases Zinc 3.4316960431
MESH:D007676 Kidney Failure, Chronic Zinc 4.6316518626
MESH:D016773 Leishmaniasis, Cutaneous Zinc Sulfate 4.4315237267
MESH:D007938 Leukemia Azacitidine 3.7819148494
MESH:D007951 Leukemia, Myeloid Azacitidine 4.8319077051
MESH:D015470 Leukemia, Myeloid, Acute Azacitidine 3.0317596541 18720364
MESH:D054429 Leukemia, Myelomonocytic, Juvenile Azacitidine 5.4119299654
MESH:D015473 Leukemia, Promyelocytic, Acute Arsenic 3.6817339181
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 1.3515474484
MESH:D008107 Liver Diseases Arsenic 2.5811134558
MESH:D008113 Liver Neoplasms Arsenic 4.8316368122
MESH:D008113 Liver Neoplasms pirinixic acid 4.8315890375 20007298 16377806
MESH:D008175 Lung Neoplasms Arsenic 3.0117976673 17306315 19168569
MESH:D008175 Lung Neoplasms Azacitidine 3.0121224363
MESH:D008180 Lupus Erythematosus, Systemic marker/mechanism 19838193
MESH:D008325 Mammary Neoplasms, Experimental Zinc 3.4212773700
OMIM:613375 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 11 marker/mechanism
MESH:D008545 Melanoma Carmustine 2.8912393984
MESH:D009006 Monosomy Azacitidine 6.4019299654
MESH:D009101 Multiple Myeloma Azacitidine 4.1118443271 19549372
MESH:D009135 Muscular Diseases pirinixic acid 3.7616239165
MESH:D009190 Myelodysplastic Syndromes Azacitidine 4.1119805378 17611569 18720364 17596541
MESH:D009203 Myocardial Infarction pirinixic acid 2.2119151258
MESH:D017202 Myocardial Ischemia Arsenic 4.1515371236
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.1016411023
MESH:D009369 Neoplasms pirinixic acid 2.0317405874
MESH:D009436 Neural Tube Defects Arsenic 3.5816620997
MESH:D020078 Neurogenic Inflammation Arsenic 4.6017056641
MESH:D009765 Obesity pirinixic acid 1.8520558911
MESH:D010051 Ovarian Neoplasms Arsenic 2.8017306315
MESH:D010523 Peripheral Nervous System Diseases Arsenic 4.4216093927
MESH:D016491 Peripheral Vascular Diseases Arsenic 5.2816905509 6392382 15371236
MESH:D010538 Peritonitis Isoflurane 5.4817414419
MESH:D011225 Pre-Eclampsia Zinc 4.3317114810
MESH:D011471 Prostatic Neoplasms Arsenic 2.7916140617
MESH:D011471 Prostatic Neoplasms Azacitidine 2.7918324645
MESH:D011471 Prostatic Neoplasms Zinc 2.7912429649 16700911 16517595 16606632
MESH:D011507 Proteinuria Arsenic 4.2221343184
MESH:D012021 Reflex, Abnormal Pentobarbital 6.3110930210
MESH:D015427 Reperfusion Injury pirinixic acid 2.4719058328
MESH:D012162 Retinal Degeneration Zinc 4.2816584753
MESH:D012640 Seizures Pentobarbital 4.0210087439 9754883
MESH:D018805 Sepsis Isoflurane 5.1617414419
MESH:D012871 Skin Diseases Arsenic 2.7919834688 17453740 18709164 17548696 16702368 17938729 6392382 16353154 16759981 17050553 15952646
MESH:D012878 Skin Neoplasms Arsenic 3.0917050553 15504454 16251483 19538983 17976673 17029826
MESH:D013375 Substance Withdrawal Syndrome Pentobarbital 5.1711529278 9754883
MESH:D014062 Tongue Neoplasms Zinc 4.5916543248
MESH:D001749 Urinary Bladder Neoplasms Arsenic 2.8818640142 17306315 17976673 11144890 15987713 19322015 19429237
MESH:D014652 Vascular Diseases Arsenic 5.0217056641
No data
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA25368
    • No data
    Releated disease ID Related disease Name
    PA444819Lupus erythematosus
    PA444822Lupus Erythematosus, Systemic
    PA446155Precursor Cell Lymphoblastic Leukemia-Lymphoma
    PA445174Osteoarthritis
    PA444822Lupus Erythematosus, Systemic
    Releated drug ID Related drug Name
    PA10804imatinib
    Drug Bank Top

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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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