AutismKB 2.0

Annotation Detail for NLRP3


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Basic Information Top
Gene Symbol:NLRP3 ( AGTAVPRL,AII,AII/AVP,AVP,C1orf7,CIAS1,CLR1.1,FCAS,FCU,FLJ95925,MWS,NALP3,PYPAF1 )
Gene Full Name: NLR family, pyrin domain containing 3
Band: 1q44
Quick LinksEntrez ID:114548; OMIM: 606416; Uniprot ID:NALP3_HUMAN; ENSEMBL ID: ENSG00000162711; HGNC ID: 16400
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04621NOD-like receptor signaling pathway
No data
No data
No data
No data
Related Diseases/Disorders Top
Desease IDDesease Name
Other immune system disease
Immune system diseases
H00282Cryopyrin associated periodic syndrome
No data
Desease Name
HEMATOLOGICAL
CARDIOVASCULAR
fibrinogen
hypertension
amyloidosis
neurohypophyseal diabetes insipidus
METABOLIC
Desease Name
Fibrinogen
Desease Name
Muckle-Wells syndrome
Cold-induced autoinflammatory syndrome, familial
CINCA syndrome
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000082 Acetaminophen Acetaminophen affects the expression of NLRP3 mRNAaffects expression 17562736
D004052 Diethylnitrosamine Diethylnitrosamine results in increased expression of NLRP3 mRNAincreases expression 17942915
D004052 Diethylnitrosamine MET protein inhibits the reaction [Diethylnitrosamine results in increased expression of NLRP3 mRNA]decreases reaction|increases expression 17942915
D020849 Raloxifene [Raloxifene co-treated with ESR1 protein] results in increased expression of NLRP3 mRNAaffects cotreatment|increases expression 19059307
D012643 Selenium Selenium results in increased expression of NLRP3 mRNAincreases expression 17293063
D013629 Tamoxifen [Tamoxifen co-treated with ESR1 protein] results in increased expression of NLRP3 mRNAaffects cotreatment|increases expression 19059307
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000008 Abdominal Neoplasms Tamoxifen 5.1614745880
MESH:D000236 Adenoma Diethylnitrosamine 3.036695378 10737359
MESH:D018248 Adenoma, Liver Cell Diethylnitrosamine 4.4416434500 19052882 19061943 17162532 18056438 17620307
MESH:D000419 Albuminuria Raloxifene 5.0417451421 17308373
MESH:D000544 Alzheimer Disease Raloxifene 2.6015800139
MESH:D000799 Angioedema Acetaminophen 4.4510982225
MESH:D001321 Autistic Disorder Acetaminophen 1.4018445737
MESH:D001930 Brain Injuries Raloxifene 4.9616580743
MESH:D001943 Breast Neoplasms Diethylnitrosamine 1.9517474063
MESH:D001943 Breast Neoplasms Raloxifene 1.9516912660 16837676 15758505 17261762 17595753 17893378 15572757 17242785 17440819 15775269 17049068 17952589
MESH:D001943 Breast Neoplasms Tamoxifen 1.9517242785 19011961 16818667 20135344 17440819 19084267 19059307 19115204 16873071 19221464 18425577 17893378 19066611 21152245 17049068 11161223 18997820 19200415 20065188 18815881 19155303 20544844 19244106 16202921 16273361 17261762 20859285 19189212 19103187 19189210 18984771 18629630 19410462 20390343 21138602 15668708 20005174 15565566 19288272 19142967 18351453 18855134 19487384 18821012 19289846
MESH:D018270 Carcinoma, Ductal, Breast Tamoxifen 4.9919066611
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 4.783084413
MESH:D006528 Carcinoma, Hepatocellular Diethylnitrosamine 4.7816807293 19822196 18665156 17978847 19383236 20727157 19107877 18210153 20007298 16288022 18978308 19919837 20101231 17761372 17162532 3084413 18785209 18393292 18691550 16569478 11831363 18506893 16681979 16935385 16830150 21159647 20935162 17138121 20084675 16878318 16328049 19052882 19208518 17055752 16502159 19701751 19394651 3581430 18971187 18788625 19519916 17173139 16540662 20514400 17428255 10672840 20512989 19171122 20432363 19539802 19418558 16779866 18056438 19335982 18494052 20214788 20524982 16698587 10737359
MESH:D006528 Carcinoma, Hepatocellular Tamoxifen 4.7816924424
MESH:D002295 Carcinoma, Transitional Cell Raloxifene 10.6817572228
MESH:D002295 Carcinoma, Transitional Cell Tamoxifen 10.6817572228
MESH:D002318 Cardiovascular Diseases Raloxifene 3.6815775269
MESH:D002386 Cataract Acetaminophen 2.7710977129
MESH:D002471 Cell Transformation, Neoplastic Diethylnitrosamine 3.097505956 21159647 17174075 2727394
MESH:D018281 Cholangiocarcinoma Diethylnitrosamine 4.0119052882
MESH:D003072 Cognition Disorders Raloxifene 5.1015800139
MESH:D003092 Colitis Selenium 4.2617936198
MESH:D003424 Crohn Disease marker/mechanism 19098911
MESH:D056587 Cryopyrin-Associated Periodic Syndromes marker/mechanism 12928894 12032915
MESH:D003711 Demyelinating Diseases Tamoxifen 4.8519031437
MESH:D003865 Depressive Disorder, Major Raloxifene 4.4917474826
MESH:D003924 Diabetes Mellitus, Type 2 Diethylnitrosamine 2.2520387270
MESH:D003928 Diabetic Nephropathies Raloxifene 10.1317451421 17308373 15920148
MESH:D003928 Diabetic Nephropathies Tamoxifen 10.1319279558
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 6.7116393943 11529661 16485898 10663392 19164858 19739265 11739529 16781746 11743745 14725611 12153990 10915739 19420014 12705907 2444490 12958197 18713872 17906064 19370779 14550746 11834606 18071297 19923254 11461765 16109766 11421492 16081117 17522070 16177239 19416960 16227642 11287661 19085960 15968718 10774834 12594235 12392966 17562736 14986274 12540782 15619225
MESH:D056486 Drug-Induced Liver Injury Diethylnitrosamine 6.7119107877
MESH:D056486 Drug-Induced Liver Injury Selenium 6.7115131321
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.7119426721
MESH:D004487 Edema Raloxifene 3.7015860553
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Raloxifene 10.7515845917
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Tamoxifen 10.7519031437
MESH:D016889 Endometrial Neoplasms Tamoxifen 3.2616202921 19155303 20544844 17893378
MESH:D004931 Esophageal Achalasia Diethylnitrosamine 5.7316302075
OMIM:120100 FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1 marker/mechanism
MESH:D005234 Fatty Liver Diethylnitrosamine 15.4720387270 21071580
MESH:D005234 Fatty Liver Raloxifene 15.4717473493
MESH:D005234 Fatty Liver Tamoxifen 15.4714986274 19224547
MESH:D052776 Female Urogenital Diseases Tamoxifen 3.4316709447
MESH:D018221 Fibromatosis, Abdominal Tamoxifen 5.0714745880
MESH:D018222 Fibromatosis, Aggressive Tamoxifen 4.7219069698
MESH:D005756 Gastritis Acetaminophen 4.2916983495
MESH:D006331 Heart Diseases Raloxifene 3.7711110106
MESH:D006333 Heart Failure Selenium 3.2717162251
MESH:D006930 Hyperalgesia Acetaminophen 2.9916870215
MESH:D006973 Hypertension Raloxifene 2.9717577099 15787275
MESH:D007249 Inflammation marker/mechanism 12032915
MESH:D007249 Inflammation Diethylnitrosamine 5.6218785209
MESH:D007249 Inflammation Tamoxifen 5.6219457130
MESH:D007251 Influenza, Human Selenium 4.8116624496
MESH:D007674 Kidney Diseases Acetaminophen 2.3815629191 12587719
MESH:D007676 Kidney Failure, Chronic Selenium 4.2616518626
MESH:D007680 Kidney Neoplasms Tamoxifen 3.3518625569
MESH:D007889 Leiomyoma Raloxifene 4.9016973256
MESH:D008064 Lipidoses Tamoxifen 3.4017567588 15342952
MESH:D008103 Liver Cirrhosis Diethylnitrosamine 2.9920032147 18407596 18665156 19638242 18522880
MESH:D008106 Liver Cirrhosis, Experimental Tamoxifen 1.7518564211
MESH:D008107 Liver Diseases Acetaminophen 4.1516610002 19460945 12587719 19784758 16611625 19014921 11587558 12969438
MESH:D008107 Liver Diseases Diethylnitrosamine 4.1517034775
MESH:D017114 Liver Failure, Acute Acetaminophen 3.5817185352 16871587
MESH:D008113 Liver Neoplasms Diethylnitrosamine 4.9518648771 20452335 20434301 19812893 16942905 21047994 15175105 12771043 21071580 12112319 18978307 19833225 20118626 19294768 19996281 21278145 20501860 18754104 19642983 18977376 15885732 19638242 19255062 19690152 21167192 19426721 19254457 18644402 19427195 19073162 2862719 20137499 19256749 19499222 20101389 20583210 19090486 20405173 2422723 9163691 19551842 10737359 20492335 19850985
MESH:D008113 Liver Neoplasms Tamoxifen 4.9516684651
MESH:D008114 Liver Neoplasms, Experimental Diethylnitrosamine 2.8317854601 19009564 21159647 18775883 16842330 18544905 17174075 16267830 19519916 19539802 19004024 3124819 9362446 18093689 18253720 18079962 18164116 19126423 17942915 18282651 18308698 2563599
MESH:D008175 Lung Neoplasms Diethylnitrosamine 2.526695378 20970405 21163286 20512841
MESH:D008175 Lung Neoplasms Tamoxifen 2.5218625569
MESH:D015674 Mammary Neoplasms, Animal Tamoxifen 4.3019428831
MESH:D008325 Mammary Neoplasms, Experimental Selenium 6.7615318939
MESH:D008325 Mammary Neoplasms, Experimental Tamoxifen 6.7611731420 19196723 14580682 16827153 19196722
MESH:D020149 Manganese Poisoning Tamoxifen 5.1619453300
MESH:D008545 Melanoma Tamoxifen 1.9212393984 19393235
MESH:D018328 Melanoma, Amelanotic Tamoxifen 4.7215990972
MESH:D008546 Melanoma, Experimental Acetaminophen 4.0519513568
MESH:D008654 Mesothelioma Selenium 2.9015107826
MESH:D018200 Mixed Tumor, Mullerian Raloxifene 6.1715863610
OMIM:191900 MUCKLE-WELLS SYNDROME marker/mechanism
MESH:D009101 Multiple Myeloma Raloxifene 3.6816497877
MESH:D009232 Myxoma Raloxifene 6.1716343187
MESH:D009362 Neoplasm Metastasis Diethylnitrosamine 6.123581430 9029167
MESH:D009362 Neoplasm Metastasis Tamoxifen 6.1219393235
MESH:D009364 Neoplasm Recurrence, Local Tamoxifen 2.6019410462
MESH:D009376 Neoplasms, Hormone-Dependent Tamoxifen 4.6119189210 19200415 19196722
MESH:D019636 Neurodegenerative Diseases Acetaminophen 9.2218514411
MESH:D019636 Neurodegenerative Diseases Diethylnitrosamine 9.2220387270
MESH:D009461 Neurologic Manifestations Diethylnitrosamine 5.7320387270
MESH:D010024 Osteoporosis Raloxifene 3.5919059307 17882678 15775268
MESH:D015663 Osteoporosis, Postmenopausal Raloxifene 4.6315758505 17893378 17823083 15579764
MESH:D010146 Pain Acetaminophen 2.6916870215
MESH:D010190 Pancreatic Neoplasms Diethylnitrosamine 2.5216540662
MESH:D010954 Plasmacytoma Selenium 5.5015087411
MESH:D011230 Precancerous Conditions Diethylnitrosamine 3.882563599
MESH:D011471 Prostatic Neoplasms Raloxifene 3.2916536755 15731164 16220300
MESH:D011471 Prostatic Neoplasms Tamoxifen 3.2915067354
MESH:D011693 Purpura Raloxifene 6.1715770314
MESH:D013088 Spermatocele Tamoxifen 4.9016709447
MESH:D013119 Spinal Cord Injuries Tamoxifen 4.5819457130
MESH:D013274 Stomach Neoplasms Diethylnitrosamine 1.7618456281
MESH:D020521 Stroke Raloxifene 4.1116837676
MESH:D013964 Thyroid Neoplasms Diethylnitrosamine 3.257505956
MESH:D013978 Tibial Fractures Raloxifene 5.8219048282
MESH:D001749 Urinary Bladder Neoplasms Raloxifene 5.6117572228
MESH:D001749 Urinary Bladder Neoplasms Tamoxifen 5.618653321 16712894 17572228
MESH:D014581 Urticaria Acetaminophen 3.3810982225
MESH:D054556 Venous Thromboembolism Raloxifene 5.8216837676
MESH:D014846 Vulvar Neoplasms Raloxifene 6.1716343187
Pathway ID Pathway Name
KEGG:04621 NOD-like receptor signaling pathway
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA26512
    • No data
    Releated disease ID Related disease Name
    PA443815Crohn Disease
    PA445174Osteoarthritis
    No data
    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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