AutismKB 2.0

Annotation Detail for SERPIND1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:SERPIND1 ( D22S673,HC2,HCF2,HCII,HLS2,LS2 )
Gene Full Name: serpin peptidase inhibitor, clade D (heparin cofactor), member 1
Band: 22q11.21
Quick LinksEntrez ID:3053; OMIM: 142360; Uniprot ID:HEP2_HUMAN; ENSEMBL ID: ENSG00000099937; HGNC ID: 4838
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04610Complement and coagulation cascades
No data
No data
No data
No data
Related Diseases/Disorders Top
Desease IDDesease Name
Circulatory system diseases
Hematologic diseases
H00223Inherited thrombophilia
No data
No data
No data
Desease Name
Thrombophilia due to heparin cofactor II deficiency
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C016403 2,4-dinitrotoluene 2,4-dinitrotoluene affects the expression of SERPIND1 mRNAaffects expression 21346803
D000082 Acetaminophen Acetaminophen affects the expression of SERPIND1 mRNAaffects expression 17562736
D016604 Aflatoxin B1 Aflatoxin B1 affects the expression of SERPIND1 proteinaffects expression 20106945
D000643 Ammonium Chloride Ammonium Chloride affects the expression of SERPIND1 mRNAaffects expression 16483693
D001104 Arbutin Arbutin results in decreased expression of SERPIND1 mRNAdecreases expression 17103032
C095105 bexarotene bexarotene results in decreased expression of SERPIND1 mRNAdecreases expression 16648578
D002994 Clofibrate PPARA protein affects the reaction [Clofibrate results in decreased expression of SERPIND1 mRNA]affects reaction|decreases expression 17585979
D016572 Cyclosporine Cyclosporine results in decreased expression of SERPIND1 mRNAdecreases expression 20106945
D003871 Dermatan Sulfate [Dermatan Sulfate co-treated with SERPIND1 protein] results in decreased activity of F2 proteinaffects cotreatment|decreases activity 11805133
D004958 Estradiol Estradiol results in decreased expression of SERPIND1 mRNAdecreases expression 20106945
D004997 Ethinyl Estradiol [Ethinyl Estradiol co-treated with Gestodene] results in increased expression of SERPIND1affects cotreatment|increases expression 15669648
D004997 Ethinyl Estradiol Ethinyl Estradiol results in increased expression of SERPIND1 mRNAincreases expression 17942748
C442659 ethinyl estradiol-desogestrel combination ethinyl estradiol-desogestrel combination results in increased expression of SERPIND1 proteinincreases expression 15318540
D005419 Flavonoids Flavonoids results in decreased expression of SERPIND1 mRNAdecreases expression 18035473
D005472 Fluorouracil TP53 protein affects the reaction [Fluorouracil results in decreased expression of SERPIND1 mRNA]affects reaction|decreases expression 15016801
C033273 Gestodene [Ethinyl Estradiol co-treated with Gestodene] results in increased expression of SERPIND1affects cotreatment|increases expression 15669648
C023036 perfluorooctanoic acid perfluorooctanoic acid results in decreased expression of SERPIND1 mRNAdecreases expression 18467677
C023036 perfluorooctanoic acid PPARA protein promotes the reaction [perfluorooctanoic acid results in decreased expression of SERPIND1 mRNA]decreases expression|increases reaction 18467677
C006253 pirinixic acid pirinixic acid results in decreased expression of SERPIND1 mRNAdecreases expression 18445702
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of SERPIND1 mRNAincreases expression 20106945
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 2.8114514962 11752688 15322242
MESH:D000138 Acidosis Ammonium Chloride 3.5218287403
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 3.9117505938
MESH:D055371 Acute Lung Injury pirinixic acid 3.0818653653
MESH:D000230 Adenocarcinoma Estradiol 7.0011473722
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 7.0014692618
MESH:D000230 Adenocarcinoma Fluorouracil 7.0017638652
MESH:D018248 Adenoma, Liver Cell pirinixic acid 9.7816434500
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 9.7816835633
MESH:D000740 Anemia Fluorouracil 8.5515504547 17963324 16511603
MESH:D000740 Anemia Tetrachlorodibenzodioxin 8.5511748828
MESH:D000799 Angioedema Acetaminophen 3.8110982225
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.4211256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.6415885639
MESH:D001321 Autistic Disorder Acetaminophen 1.4218445737
MESH:D001778 Blood Coagulation Disorders Clofibrate 15.1219483382
MESH:D001778 Blood Coagulation Disorders pirinixic acid 15.1219483382
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 15.1212125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 3.7615340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.7315746008
MESH:D001943 Breast Neoplasms bexarotene 1.9716344269 16818667
MESH:D001943 Breast Neoplasms Estradiol 1.9717261762 12948864 19861407 17289903 17018787 16675129 14630087 18497071
MESH:D001943 Breast Neoplasms Fluorouracil 1.9716557594 16110121 15136595 18357371 19217205 16595493 18608205
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.9720435547
MESH:D002181 Candidiasis, Vulvovaginal Estradiol 4.4316111702
MESH:D002276 Carcinoid Tumor Fluorouracil 4.6416051944
MESH:D002277 Carcinoma Fluorouracil 8.0617121937
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 8.0616835633
MESH:D006528 Carcinoma, Hepatocellular 2,4-dinitrotoluene 8.8016705839
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 8.803084413
MESH:D006528 Carcinoma, Hepatocellular Aflatoxin B1 8.8021507988 12907637 12619106
MESH:D006528 Carcinoma, Hepatocellular Estradiol 8.8016924424
MESH:D006528 Carcinoma, Hepatocellular Fluorouracil 8.8018930000 16332177 17088986 17045692 16799960 17971768
MESH:D002289 Carcinoma, Non-Small-Cell Lung bexarotene 3.2116247446
MESH:D002292 Carcinoma, Renal Cell Fluorouracil 3.0018695887
MESH:D002294 Carcinoma, Squamous Cell Fluorouracil 2.4816757204 18986760 17066447 16280240
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.3416120746 18670907 18850075
MESH:D002341 Carotid Artery Thrombosis therapeutic 11805133
MESH:D002386 Cataract Acetaminophen 2.5510977129
MESH:D002471 Cell Transformation, Neoplastic Clofibrate 11.071399818
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 11.0712371664
MESH:D002471 Cell Transformation, Neoplastic Estradiol 11.0718566989
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.1216835633
MESH:D002779 Cholestasis Cyclosporine 13.1519486331
MESH:D002779 Cholestasis Ethinyl Estradiol 13.1517110522 17681005 17333356 16919318 15861022 16105132 11677210
MESH:D002779 Cholestasis pirinixic acid 13.1519176532
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.088697196 15668235 16354765 12621046 15340226
MESH:D003110 Colonic Neoplasms Fluorouracil 2.2318772588 17725105 16340194 17018589 17169374 17016597 17172411 16510598 17287894 15001691
MESH:D015179 Colorectal Neoplasms Fluorouracil 2.0018802399 17016601 17695437 18288408 16303861 16282729 18383874 18949393 17594712 18448328 16331619 16524972 17094418 16391804 20501625 14970324 15289873 17401013 17454858 15148649 17255274 18509181
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.0214669216 17141729
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2510048152 20055451 15322242
MESH:D003490 Cyanosis 2,4-dinitrotoluene 3.9718551238
MESH:D007644 Darier Disease Fluorouracil 4.7616733453
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.4018249437
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.6617107852
MESH:D003928 Diabetic Nephropathies Estradiol 3.3719279558
MESH:D056486 Drug-Induced Liver Injury 2,4-dinitrotoluene 6.0421346803 18551238
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 6.0416485898 12705907 10774834 10663392 15619225 19739265 17522070 11461765 16227642 16781746 15968718 18071297 19085960 10915739 12153990 18713872 19923254 11287661 11529661 19416960 12540782 16109766 14986274 16177239 2444490 17906064 11739529 14725611 19164858 16081117 19420014 12392966 16393943 11421492 12594235 19370779 11834606 14550746 17562736 11743745 12958197
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 6.0420420201
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.0719426721
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.7311462148
MESH:D050171 Dyslipidemias Clofibrate 4.0316707586
MESH:D004487 Edema perfluorooctanoic acid 11.2317259670 12083418
MESH:D004487 Edema pirinixic acid 11.2312083418
MESH:D004487 Edema Tetrachlorodibenzodioxin 11.2312711302 11000095
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 3.8718230668 16714409 15322242
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 3.1512538720
MESH:D016889 Endometrial Neoplasms Estradiol 2.9511473722 19148513 18566989
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 2.989294722 10568697
MESH:D004938 Esophageal Neoplasms Fluorouracil 2.4415173087 16481741 17638652 16337965 16785472
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 2.9811564622
MESH:D005234 Fatty Liver Clofibrate 18.4419224547
MESH:D005234 Fatty Liver Cyclosporine 18.4419224547
MESH:D005234 Fatty Liver Ethinyl Estradiol 18.4415345470
MESH:D005234 Fatty Liver pirinixic acid 18.4419236843 20131406
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.4211858732
MESH:D005355 Fibrosis Cyclosporine 8.3512639820 12168785
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 8.3520067830
MESH:D005756 Gastritis Acetaminophen 3.6516983495
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.188708960
MESH:D005910 Glioma Fluorouracil 2.8516145905
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.5710696789
MESH:D006258 Head and Neck Neoplasms Fluorouracil 3.3615102660 15162350 18337622
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.3110048152 11294989
MESH:D006333 Heart Failure pirinixic acid 2.5120558911
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.3915720958
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.2911000095
OMIM:612356 HEPARIN COFACTOR II DEFICIENCY marker/mechanism
MESH:D006529 Hepatomegaly perfluorooctanoic acid 14.243609246
MESH:D006529 Hepatomegaly pirinixic acid 14.2416221962 18467677 19772884 19176532
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 14.2415340226 16120746 12621046
MESH:D006558 Herpes Genitalis Estradiol 5.0015709030
MESH:D019584 Hot Flashes Estradiol 3.7217088409
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.0216354765 8697196 16959395 15340226 18606429
MESH:D006930 Hyperalgesia Acetaminophen 7.7416870215
MESH:D006930 Hyperalgesia perfluorooctanoic acid 7.7412083418
MESH:D006943 Hyperglycemia pirinixic acid 3.1420558911
MESH:D006973 Hypertension Cyclosporine 4.8910903974
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 4.8918670907 18850075
MESH:D007021 Hypospadias Ethinyl Estradiol 3.7716945680 16569931
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.4212013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.4617937319
MESH:D007249 Inflammation Flavonoids 8.2717296493
MESH:D007249 Inflammation perfluorooctanoic acid 8.2712083418
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 8.2712200463 12878042
MESH:D007333 Insulin Resistance Estradiol 7.1016393666 16627594
MESH:D007333 Insulin Resistance pirinixic acid 7.1016306350
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.2916580747
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.4115604871
MESH:D007674 Kidney Diseases Acetaminophen 9.8312587719 15629191
MESH:D007674 Kidney Diseases Cyclosporine 9.8318776723 10903974 8314463
MESH:D007674 Kidney Diseases Estradiol 9.8315618244
MESH:D007680 Kidney Neoplasms 2,4-dinitrotoluene 17.4516705839
MESH:D007680 Kidney Neoplasms Cyclosporine 17.4512371664
MESH:D007680 Kidney Neoplasms Estradiol 17.4515610895
MESH:D007680 Kidney Neoplasms Fluorouracil 17.4516985049
MESH:D007984 Leydig Cell Tumor perfluorooctanoic acid 5.198812269
MESH:D008106 Liver Cirrhosis, Experimental Estradiol 3.3514659978 14716833
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 3.3515474484
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 3.3512878042
MESH:D008107 Liver Diseases Acetaminophen 1.6216610002 16611625 12587719 12969438 11587558 19014921 19784758 19460945
MESH:D017114 Liver Failure, Acute Acetaminophen 3.2016871587 17185352
MESH:D008113 Liver Neoplasms Aflatoxin B1 14.0815890375 2125692 9163691 18177683
MESH:D008113 Liver Neoplasms Fluorouracil 14.0815113037 16603448 17045692 18383874
MESH:D008113 Liver Neoplasms perfluorooctanoic acid 14.0814757943 18709148
MESH:D008113 Liver Neoplasms pirinixic acid 14.0820007298 16377806 15890375
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 14.0816984957
MESH:D008114 Liver Neoplasms, Experimental Aflatoxin B1 5.718603461
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 5.7112151625
MESH:D008175 Lung Neoplasms Aflatoxin B1 4.8414755239
MESH:D008175 Lung Neoplasms bexarotene 4.8417849452
MESH:D008175 Lung Neoplasms Fluorouracil 4.8415246190
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 4.8419555203 11884234
MESH:D008178 Lupus Erythematosus, Cutaneous Fluorouracil 4.7615086387
MESH:D016410 Lymphoma, T-Cell, Cutaneous bexarotene 5.1111161223
MESH:D008325 Mammary Neoplasms, Experimental bexarotene 6.1615591091 19196723 19196722
MESH:D008325 Mammary Neoplasms, Experimental Estradiol 6.1611408345 11807958 16891317 17203775
MESH:D020149 Manganese Poisoning Estradiol 4.4519453300
MESH:D008546 Melanoma, Experimental Acetaminophen 3.5319513568
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 4.7616801185
MESH:D009062 Mouth Neoplasms Fluorouracil 3.6016757204 18986760
MESH:D009135 Muscular Diseases pirinixic acid 3.4716239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.1219151258
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 2.9812213967
MESH:D015428 Myocardial Reperfusion Injury Estradiol 8.1316810080
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 8.1316411023
MESH:D009336 Necrosis 2,4-dinitrotoluene 3.8218551238
MESH:D009369 Neoplasms Fluorouracil 4.9116928823 18600527 18239605
MESH:D009369 Neoplasms pirinixic acid 4.9117405874
MESH:D009376 Neoplasms, Hormone-Dependent bexarotene 4.7519196722
MESH:D009389 Neovascularization, Pathologic Estradiol 3.7017289903
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.4117954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.2419348381 18481113
MESH:D009421 Nervous System Malformations Estradiol 9.3316427766 11399458
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 9.3314600291
MESH:D019636 Neurodegenerative Diseases Acetaminophen 2.8318514411
MESH:D020258 Neurotoxicity Syndromes Fluorouracil 3.4116436463
MESH:D052556 Niemann-Pick Disease, Type C Clofibrate 11.939802331
MESH:D052556 Niemann-Pick Disease, Type C perfluorooctanoic acid 11.939802331
MESH:D009765 Obesity pirinixic acid 1.8020558911
MESH:D009784 Occupational Diseases 2,4-dinitrotoluene 3.3916049721 12819281
MESH:D010051 Ovarian Neoplasms Estradiol 2.2019401270
MESH:D010146 Pain Acetaminophen 2.3516870215
MESH:D010190 Pancreatic Neoplasms Fluorouracil 2.6519003803 16929163 15113037 16500647
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.6511578682
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.2212520081
MESH:D011085 Polycystic Ovary Syndrome ethinyl estradiol-desogestrel combination 5.5617105841
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.5218163543
MESH:D011230 Precancerous Conditions Cyclosporine 3.1812371664
MESH:D011297 Prenatal Exposure Delayed Effects perfluorooctanoic acid 9.5517132714
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 9.5511399792 11896295 11222880 11118676
MESH:D019048 Prostatic Intraepithelial Neoplasia Estradiol 3.8420887781
MESH:D011471 Prostatic Neoplasms Estradiol 3.2916740699
MESH:D011471 Prostatic Neoplasms Fluorouracil 3.2918626508 19082440
MESH:D011537 Pruritus Ethinyl Estradiol 3.2815861022 16919318
MESH:D011565 Psoriasis Cyclosporine 2.2116882103
MESH:D012004 Rectal Neoplasms Fluorouracil 3.9715538739 16160472 18722050 18286688
MESH:D015427 Reperfusion Injury pirinixic acid 2.3619058328
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 3.8018990726
MESH:D012640 Seizures 2,4-dinitrotoluene 2.5018551238
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.0216192470
MESH:D013088 Spermatocele Ethinyl Estradiol 3.9116709447
MESH:D013274 Stomach Neoplasms Fluorouracil 2.0017498489 19015929 16424979 19084572 15786421 18396642 17522103 16951190 17172411 18567086
MESH:D019851 Thrombophilia Ethinyl Estradiol 18.2411994571
MESH:D019851 Thrombophilia ethinyl estradiol-desogestrel combination 18.2411994571
MESH:D019851 Thrombophilia Gestodene 18.2411994571
MESH:D013927 Thrombosis Ethinyl Estradiol 9.4215669648
MESH:D013927 Thrombosis Gestodene 9.4215669648
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 3.8712697716
MESH:D013978 Tibial Fractures Estradiol 4.6619048282
MESH:D014062 Tongue Neoplasms Fluorouracil 3.9516280240
MESH:D001749 Urinary Bladder Neoplasms 2,4-dinitrotoluene 2.2716049721
MESH:D014571 Urologic Neoplasms 2,4-dinitrotoluene 4.2810091137
MESH:D014581 Urticaria Acetaminophen 2.9410982225
MESH:D002583 Uterine Cervical Neoplasms Fluorouracil 3.8416803524
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.2614692618
MESH:D014605 Uveitis Cyclosporine 3.961336536
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.5712125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 10.6915869587 14671159
MESH:D020246 Venous Thrombosis ethinyl estradiol-desogestrel combination 10.6915869587
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.2215886252
MESH:D014985 Xerophthalmia Cyclosporine 4.4117120751
Pathway ID Pathway Name
KEGG:04610 Complement and coagulation cascades
Pharmacogenomics Knowledge Base Top
Drug Bank Top
Drugbank ID Action Drug Name Description
DB00407 agonist Ardeparin Anticoagulants;Fibrinolytic Agents
DB02944 - Alpha-D-Mannose
DB06271 agonist Sulodexide Antithrombotic Agents
No data
No data
No data

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