AutismKB 2.0

Annotation Detail for PNPLA3


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Basic Information Top
Gene Symbol:PNPLA3 ( ADPN,C22orf20,iPLA(2)epsilon )
Gene Full Name: patatin-like phospholipase domain containing 3
Band: 22q13.31
Quick LinksEntrez ID:80339; OMIM: 609567; Uniprot ID:PLPL3_HUMAN; ENSEMBL ID: ENSG00000100344; HGNC ID: 18590
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Pathway IDPathway Name
LIPAS-PWYtriacylglycerol degradation
Pathway IDPathway Name
hsa00561Glycerolipid metabolism
hsa01100Metabolic pathways
No data
No data
No data
No data
Related Diseases/Disorders Top
No data
No data
Desease Name
CHEMDEPENDENCY
Liver Cirrhosis, Alcoholic
plasma levels of liver enzymes
METABOLIC
obesity
Fatty Liver
Liver Diseases, Alcoholic
Desease Name
Plasma levels of liver enzymes
No data
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D016604 Aflatoxin B1 Aflatoxin B1 affects the expression of PNPLA3 proteinaffects expression 20106945
D001564 Benzo(a)pyrene Benzo(a)pyrene results in decreased expression of PNPLA3 mRNAdecreases expression 20064835
D016572 Cyclosporine Cyclosporine results in decreased expression of PNPLA3 mRNAdecreases expression 20106945
D004958 Estradiol Estradiol results in decreased expression of PNPLA3 mRNAdecreases expression 20106945
D004997 Ethinyl Estradiol Ethinyl Estradiol affects the expression of PNPLA3 mRNAaffects expression 17555576
D009020 Morphine Morphine results in increased expression of PNPLA3 mRNAincreases expression 20144693
D010634 Phenobarbital NR1I3 protein affects the reaction [Phenobarbital results in increased expression of PNPLA3 mRNA]affects reaction|increases expression 19482888
D010634 Phenobarbital Phenobarbital results in increased expression of PNPLA3 mRNAincreases expression 19482888
D011794 Quercetin Quercetin results in decreased expression of PNPLA3 mRNAdecreases expression 17032037
D012431 Rutin Rutin results in decreased expression of PNPLA3 mRNAdecreases expression 17032037
D013629 Tamoxifen Tamoxifen affects the expression of PNPLA3 mRNAaffects expression 17555576
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in decreased expression of PNPLA3 mRNAdecreases expression 20106945
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000008 Abdominal Neoplasms Tamoxifen 4.7614745880
MESH:D000014 Abnormalities, Drug-Induced Phenobarbital 8.956195326
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 8.9511752688 14514962 15322242
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.1617505938
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 7.1920464547 20127859
MESH:D000230 Adenocarcinoma Estradiol 7.1911473722
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 7.1914692618
MESH:D000236 Adenoma Benzo(a)pyrene 2.736695378
MESH:D018248 Adenoma, Liver Cell Phenobarbital 10.7417620307
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 10.7416835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.0811748828
MESH:D000743 Anemia, Hemolytic Quercetin 4.3817084956
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.2519183758
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.6411256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.7415885639
MESH:D001260 Ataxia Telangiectasia Quercetin 5.1715336622
MESH:D001327 Autoimmune Diseases Quercetin 4.5819761891
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.1812125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.0115340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.8515746008
MESH:D002545 Brain Ischemia Morphine 5.3419211983
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 2.3620146248 17474063
MESH:D001943 Breast Neoplasms Estradiol 2.3617289903 19861407 12948864 16675129 17261762 17018787 14630087 18497071
MESH:D001943 Breast Neoplasms Quercetin 2.3618628248
MESH:D001943 Breast Neoplasms Tamoxifen 2.3616202921 17440819 18351453 19487384 19189210 20859285 20135344 19103187 18821012 19244106 19059307 19221464 16273361 17893378 19142967 17049068 19084267 19115204 19189212 19288272 11161223 17261762 18997820 18425577 19155303 18984771 19011961 20544844 18855134 21138602 18629630 18815881 15668708 19289846 17242785 16873071 20065188 19066611 20390343 19200415 21152245 20005174 16818667 15565566 19410462
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 2.3620435547
MESH:D002105 Cadmium Poisoning Quercetin 5.7616962696
MESH:D002181 Candidiasis, Vulvovaginal Estradiol 4.6616111702
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.9116835633
MESH:D018270 Carcinoma, Ductal, Breast Tamoxifen 4.6819066611
MESH:D006528 Carcinoma, Hepatocellular Aflatoxin B1 9.1021507988 12907637 12619106
MESH:D006528 Carcinoma, Hepatocellular Estradiol 9.1016924424
MESH:D006528 Carcinoma, Hepatocellular Phenobarbital 9.1020935162 1701930 17173139 6705139 20007298
MESH:D006528 Carcinoma, Hepatocellular Quercetin 9.1019519916 12508355
MESH:D006528 Carcinoma, Hepatocellular Tamoxifen 9.1016924424
MESH:D021441 Carcinoma, Pancreatic Ductal Quercetin 5.1317234771
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 2.0820419170
MESH:D002295 Carcinoma, Transitional Cell Tamoxifen 3.7517572228
MESH:D006332 Cardiomegaly Quercetin 7.0419794523
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 7.0416120746 18670907 18850075
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 6.8912371664
MESH:D002471 Cell Transformation, Neoplastic Estradiol 6.8918566989
MESH:D002493 Central Nervous System Diseases Phenobarbital 4.434080065
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.2916835633
MESH:D002779 Cholestasis Cyclosporine 8.1219486331
MESH:D002779 Cholestasis Ethinyl Estradiol 8.1217681005 17333356 16919318 17110522 15861022 11677210 16105132
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.1512621046 15340226 16354765 8697196 15668235
MESH:D003092 Colitis Rutin 5.8215652231
MESH:D003110 Colonic Neoplasms Quercetin 2.4411134977 16640504 19056647 15741050 17191121 17148506 19440933
MESH:D015179 Colorectal Neoplasms Quercetin 2.1918852136 18095365
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.1814669216 17141729
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2620055451 10048152 15322242
MESH:D003711 Demyelinating Diseases Tamoxifen 4.5419031437
MESH:D003921 Diabetes Mellitus, Experimental Quercetin 3.8519496084
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.6917107852
MESH:D003928 Diabetic Nephropathies Estradiol 9.2619279558
MESH:D003928 Diabetic Nephropathies Tamoxifen 9.2619279558
MESH:D003967 Diarrhea Morphine 4.682540324
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 1.5720420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.8611462148
MESH:D004421 Dystonia Phenobarbital 4.151851702
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.5112711302 11000095
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.1216714409 15322242 18230668
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 9.4912538720
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Tamoxifen 9.4919031437
MESH:D016889 Endometrial Neoplasms Estradiol 7.6818566989 11473722 19148513
MESH:D016889 Endometrial Neoplasms Tamoxifen 7.6819155303 20544844 17893378 16202921
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.159294722 10568697
MESH:D004831 Epilepsies, Myoclonic Phenobarbital 4.283659116
MESH:D004828 Epilepsies, Partial Phenobarbital 4.0911558140 3922381
MESH:D004827 Epilepsy Phenobarbital 2.9520417680
MESH:D004832 Epilepsy, Absence Phenobarbital 3.676401628
MESH:D017029 Epilepsy, Complex Partial Phenobarbital 4.437750514
MESH:D004830 Epilepsy, Tonic-Clonic Phenobarbital 4.213659116
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 2.0416530937
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.1211564622
MESH:D005234 Fatty Liver marker/mechanism 18820647
MESH:D005234 Fatty Liver Cyclosporine 13.8919224547
MESH:D005234 Fatty Liver Ethinyl Estradiol 13.8915345470
MESH:D005234 Fatty Liver Tamoxifen 13.8919224547 14986274
MESH:D052776 Female Urogenital Diseases Tamoxifen 3.3116709447
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.6311858732
MESH:D018221 Fibromatosis, Abdominal Tamoxifen 4.7214745880
MESH:D018222 Fibromatosis, Aggressive Tamoxifen 4.3819069698
MESH:D005355 Fibrosis Cyclosporine 15.8312639820 12168785
MESH:D005355 Fibrosis Quercetin 15.8319474275
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 15.8320067830
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.418708960
MESH:D005909 Glioblastoma Quercetin 3.4819804834
MESH:D005910 Glioma Quercetin 3.1017643826
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.8110696789
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 6.6720471113
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 6.6711294989 10048152
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.6215720958
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.4811000095
MESH:D006529 Hepatomegaly Phenobarbital 9.0316109766
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 9.0316120746 15340226 12621046
MESH:D006558 Herpes Genitalis Estradiol 5.2515709030
MESH:D019584 Hot Flashes Estradiol 3.9717088409
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.2616354765 16959395 8697196 18606429 15340226
MESH:D006943 Hyperglycemia Quercetin 4.1618262572 11834736
MESH:D006973 Hypertension Cyclosporine 8.8610903974
MESH:D006973 Hypertension Quercetin 8.8618356687
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 8.8618670907 18850075
MESH:D007021 Hypospadias Ethinyl Estradiol 3.9816945680 16569931
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.6112013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.5717937319
MESH:D007249 Inflammation Tamoxifen 5.1119457130
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 5.1112200463 12878042
MESH:D015212 Inflammatory Bowel Diseases Rutin 4.7215652231
MESH:D007251 Influenza, Human Quercetin 4.7216624496
MESH:D007333 Insulin Resistance Estradiol 3.0516393666 16627594
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.4816580747
MESH:D007627 Keloid Quercetin 5.1317086741
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.6615604871
MESH:D007674 Kidney Diseases Cyclosporine 10.548314463 10903974 18776723
MESH:D007674 Kidney Diseases Estradiol 10.5415618244
MESH:D007674 Kidney Diseases Quercetin 10.5416962696
MESH:D007680 Kidney Neoplasms Cyclosporine 13.0712371664
MESH:D007680 Kidney Neoplasms Estradiol 13.0715610895
MESH:D007680 Kidney Neoplasms Tamoxifen 13.0718625569
MESH:D007938 Leukemia Quercetin 3.2217468513
MESH:D008064 Lipidoses Tamoxifen 3.2517567588 15342952
MESH:D008103 Liver Cirrhosis Phenobarbital 2.9621047994
MESH:D008104 Liver Cirrhosis, Alcoholic marker/mechanism 19946271
MESH:D008106 Liver Cirrhosis, Experimental Estradiol 5.0814716833 14659978
MESH:D008106 Liver Cirrhosis, Experimental Quercetin 5.0812741479
MESH:D008106 Liver Cirrhosis, Experimental Tamoxifen 5.0818564211
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 5.0812878042
MESH:D008107 Liver Diseases Phenobarbital 2.2019363144
MESH:D008108 Liver Diseases, Alcoholic marker/mechanism 19946271
MESH:D008113 Liver Neoplasms Aflatoxin B1 18.6318177683 9163691 15890375 2125692
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 18.6320195826 21137059
MESH:D008113 Liver Neoplasms Phenobarbital 18.6319812893 19482888 21047994 19073162 15975961 8742319
MESH:D008113 Liver Neoplasms Quercetin 18.6318980244
MESH:D008113 Liver Neoplasms Tamoxifen 18.6316684651
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 18.6316984957
MESH:D008114 Liver Neoplasms, Experimental Aflatoxin B1 14.848603461
MESH:D008114 Liver Neoplasms, Experimental Phenobarbital 14.8418308698 6150874 17172636 1399818 2563599
MESH:D008114 Liver Neoplasms, Experimental Quercetin 14.8419519916
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 14.8412151625
MESH:D008175 Lung Neoplasms Aflatoxin B1 6.7414755239
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 6.7420135361 17053015 18569708 18816296 20869020 18520028 6695378 20464547 20064080
MESH:D008175 Lung Neoplasms Quercetin 6.7416280456
MESH:D008175 Lung Neoplasms Tamoxifen 6.7418625569
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 6.7419555203 11884234
MESH:D015674 Mammary Neoplasms, Animal Tamoxifen 3.9519428831
MESH:D008325 Mammary Neoplasms, Experimental Estradiol 6.2611807958 11408345 17203775 16891317
MESH:D008325 Mammary Neoplasms, Experimental Tamoxifen 6.2616827153 14580682 11731420 19196722 19196723
MESH:D020149 Manganese Poisoning Estradiol 13.3919453300
MESH:D020149 Manganese Poisoning Tamoxifen 13.3919453300
MESH:D008545 Melanoma Tamoxifen 1.9019393235 12393984
MESH:D018328 Melanoma, Amelanotic Tamoxifen 4.3815990972
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.0116801185
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.3016381670
MESH:D009203 Myocardial Infarction Quercetin 3.0419595682
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.1312213967
MESH:D015428 Myocardial Reperfusion Injury Estradiol 8.9216810080
MESH:D015428 Myocardial Reperfusion Injury Quercetin 8.9219207477
MESH:D020191 Myoclonic Epilepsies, Progressive Phenobarbital 4.6717484760
MESH:D009362 Neoplasm Metastasis Tamoxifen 2.5919393235
MESH:D009364 Neoplasm Recurrence, Local Tamoxifen 2.5519410462
MESH:D009369 Neoplasms Benzo(a)pyrene 5.3411141357
MESH:D009369 Neoplasms Quercetin 5.3415185748
MESH:D009376 Neoplasms, Hormone-Dependent Tamoxifen 4.2219196722 19200415 19189210
MESH:D009389 Neovascularization, Pathologic Estradiol 3.9317289903
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.6617954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.4119348381 18481113
MESH:D009421 Nervous System Malformations Estradiol 10.0111399458 16427766
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 10.0114600291
MESH:D020078 Neurogenic Inflammation Quercetin 4.5117929310
MESH:D010018 Osteomalacia Phenobarbital 4.5617016548
MESH:D015663 Osteoporosis, Postmenopausal Quercetin 4.3719495926
MESH:D010051 Ovarian Neoplasms Estradiol 5.0819401270
MESH:D010051 Ovarian Neoplasms Quercetin 5.0819005980
MESH:D010146 Pain Morphine 4.3015215642 20225289 16273134 15275824 6776300 18699797
MESH:D010190 Pancreatic Neoplasms Phenobarbital 5.5716965848
MESH:D010190 Pancreatic Neoplasms Quercetin 5.5716965848
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.8411578682
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.4712520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.7218163543
MESH:D011230 Precancerous Conditions Cyclosporine 16.0712371664
MESH:D011230 Precancerous Conditions Phenobarbital 16.072563599
MESH:D011230 Precancerous Conditions Quercetin 16.0719056647
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.3811399792 11118676 11222880 11896295
MESH:D019048 Prostatic Intraepithelial Neoplasia Estradiol 4.0220887781
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 2.0517292933
MESH:D011471 Prostatic Neoplasms Estradiol 2.0516740699
MESH:D011471 Prostatic Neoplasms Quercetin 2.0517292933 14715546
MESH:D011471 Prostatic Neoplasms Tamoxifen 2.0515067354
MESH:D011537 Pruritus Ethinyl Estradiol 3.5115861022 16919318
MESH:D019310 Pseudolymphoma Phenobarbital 4.7112752131
MESH:D011565 Psoriasis Cyclosporine 2.2716882103
MESH:D015427 Reperfusion Injury Morphine 4.1919211983
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.0018990726
MESH:D012554 Schistosomiasis japonica Quercetin 5.7616862918
MESH:D012640 Seizures Phenobarbital 2.783137016 16876388 11442880 4039156
MESH:D003294 Seizures, Febrile Phenobarbital 5.026407741
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 5.6710029692 19755658
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 5.6716192470
MESH:D013088 Spermatocele Ethinyl Estradiol 12.3016709447
MESH:D013088 Spermatocele Tamoxifen 12.3016709447
MESH:D013119 Spinal Cord Injuries Tamoxifen 4.2319457130
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 1.5620155912 2093021
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.7711994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.2815669648
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.1212697716
MESH:D013964 Thyroid Neoplasms Phenobarbital 3.161399818
MESH:D013978 Tibial Fractures Estradiol 4.9019048282
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 8.6317053015
MESH:D001749 Urinary Bladder Neoplasms Quercetin 8.6316720314
MESH:D001749 Urinary Bladder Neoplasms Tamoxifen 8.6317572228 16712894 8653321
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.4614692618
MESH:D014605 Uveitis Cyclosporine 4.201336536
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.8112125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.6814671159 15869587
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.4715886252
MESH:D014985 Xerophthalmia Cyclosporine 4.6617120751
Pathway ID Pathway Name
KEGG:00561 Glycerolipid metabolism
KEGG:01100 Metabolic pathways
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA38592
    • No data
    Releated disease ID Related disease Name
    PA444154Fatty Liver
    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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