AutismKB 2.0

Annotation Detail for GSDMD


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Basic Information Top
Gene Symbol:GSDMD ( DF5L,DFNA5L,FLJ12150,GSDMDC1 )
Gene Full Name: gasdermin D
Band: 8q24.3
Quick LinksEntrez ID:79792; OMIM: NA; Uniprot ID:GSDMD_HUMAN; ENSEMBL ID: ENSG00000104518; HGNC ID: 25697
Relate to Another Database: SFARIGene; denovo-db
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Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C548651 2-(1'H-indolo-3'-carbonyl)thiazole-4-carboxylic acid methyl ester 2-(1'H-indolo-3'-carbonyl)thiazole-4-carboxylic acid methyl ester results in increased expression of GSDMD mRNAincreases expression 19933214
D001564 Benzo(a)pyrene Benzo(a)pyrene results in increased expression of GSDMD mRNAincreases expression 20713471
C006780 bisphenol A bisphenol A results in decreased expression of GSDMD mRNAdecreases expression 19371625
D015025 Zearalenone Zearalenone results in decreased expression of GSDMD mRNAdecreases expression 19371625
D008748 Methylcholanthrene Methylcholanthrene results in increased expression of GSDMD mRNAincreases expression 20713471
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in decreased expression of GSDMD mRNAaffects binding|decreases expression|increases activity 19710929
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of GSDMD mRNAincreases expression 19933214
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.2415322242 14514962 11752688
MESH:D055371 Acute Lung Injury pirinixic acid 3.4218653653
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 2.0420127859 20464547
MESH:D000236 Adenoma Benzo(a)pyrene 7.366695378
MESH:D000236 Adenoma Methylcholanthrene 7.3610545420 6695378
MESH:D018248 Adenoma, Liver Cell pirinixic acid 11.2616434500
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 11.2616835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.2111748828
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.4319183758
MESH:D050197 Atherosclerosis Methylcholanthrene 3.6011922910
MESH:D001778 Blood Coagulation Disorders pirinixic acid 9.7319483382
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 9.7312125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.2315340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.9315746008
MESH:D001862 Bone Resorption bisphenol A 4.1411985600
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 2.0020146248 17474063
MESH:D001943 Breast Neoplasms bisphenol A 2.0017123778
MESH:D001943 Breast Neoplasms Methylcholanthrene 2.0017474063
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 2.0020435547
MESH:D002277 Carcinoma Methylcholanthrene 9.0810545420
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 9.0816835633
MESH:D002278 Carcinoma in Situ bisphenol A 5.3817123778
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 2.1120419170
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.5018850075 18670907 16120746
MESH:D002471 Cell Transformation, Neoplastic Methylcholanthrene 3.6816192471
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.4116835633
MESH:D002779 Cholestasis pirinixic acid 3.0319176532
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.2012621046 15340226 15668235 8697196 16354765
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.3114669216 17141729
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2610048152 15322242 20055451
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5318249437
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7217107852
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 1.5920420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.9611462148
MESH:D004487 Edema pirinixic acid 7.4812083418
MESH:D004487 Edema Tetrachlorodibenzodioxin 7.4811000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.3516714409 15322242 18230668
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.2910568697 9294722
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 2.0616530937
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.2111564622
MESH:D005234 Fatty Liver pirinixic acid 3.0419236843 20131406
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.8111858732
MESH:D005354 Fibrosarcoma Methylcholanthrene 5.3410962813 14633661
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.3120067830
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.0410696789
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 6.8820471113
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 6.8810048152 11294989
MESH:D006333 Heart Failure pirinixic acid 2.6920558911
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.6211000095
MESH:D006529 Hepatomegaly pirinixic acid 9.4816221962 19772884 18467677 19176532
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 9.4815340226 12621046 16120746
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.498697196 16354765 15340226 16959395 18606429
MESH:D006943 Hyperglycemia pirinixic acid 3.4520558911
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 1.9918670907 18850075
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 1.9812878042 12200463
MESH:D007333 Insulin Resistance bisphenol A 7.8816393666
MESH:D007333 Insulin Resistance pirinixic acid 7.8816306350
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.6216580747
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 2.2015474484
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 2.2012878042
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 7.8320195826 21137059
MESH:D008113 Liver Neoplasms pirinixic acid 7.8320007298 15890375 16377806
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 7.8316984957
MESH:D008114 Liver Neoplasms, Experimental Methylcholanthrene 6.54598648 1399818
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 6.5412151625
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 3.576695378 18816296 20869020 18569708 17053015 20464547 20064080 18520028 20135361
MESH:D008175 Lung Neoplasms Methylcholanthrene 3.5716271038 6695378 20970405 11893704 15390079 16337739 9230183 20512841 1399818 21163286 7750092 17909032 10545420
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 3.5711884234 19555203
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.4016381670
MESH:D009135 Muscular Diseases pirinixic acid 3.8616239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.2419151258
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.2412213967
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.1616411023
MESH:D009369 Neoplasms Benzo(a)pyrene 5.2211141357
MESH:D009369 Neoplasms pirinixic acid 5.2217405874
MESH:D009421 Nervous System Malformations bisphenol A 10.7016427766 11399458
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 10.7014600291
MESH:D009765 Obesity pirinixic acid 1.8620558911
MESH:D010049 Ovarian Diseases bisphenol A 5.3811985600
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.6912520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.8918163543
MESH:D011297 Prenatal Exposure Delayed Effects bisphenol A 10.8610548101
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 10.8611222880 11118676 11896295 11399792
MESH:D019048 Prostatic Intraepithelial Neoplasia bisphenol A 4.4920887781
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 3.1617292933
MESH:D011471 Prostatic Neoplasms bisphenol A 3.1616740699
MESH:D011629 Puberty, Precocious bisphenol A 5.1810548101
MESH:D015427 Reperfusion Injury pirinixic acid 2.5019058328
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.1718990726
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 5.8510029692 19755658
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 5.8516192470
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 1.562093021 20155912
MESH:D019966 Substance-Related Disorders bisphenol A 4.3816684133 16045194
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.3512697716
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 2.2617053015
MESH:D014591 Uterine Diseases bisphenol A 5.4514652134
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.0412125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.6915886252
No data
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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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