AutismKB 2.0

Annotation Detail for CTSA


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Basic Information Top
Gene Symbol:CTSA ( GLB2,GSL,NGBE,PPCA,PPGB )
Gene Full Name: cathepsin A
Band: 20q13.12
Quick LinksEntrez ID:5476; OMIM: 613111; Uniprot ID:PPGB_HUMAN; ENSEMBL ID: ENSG00000064601; HGNC ID: 9251
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04142Lysosome
hsa04614Renin-angiotensin system
No data
No data
No data
No data
Related Diseases/Disorders Top
Desease IDDesease Name
H00276Galactosialidosis
Lysosomal storage diseases
Genetic disorders
No data
No data
No data
Desease Name
Galactosialidosis
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000082 Acetaminophen Acetaminophen affects the expression of CTSA mRNAaffects expression 17562736
C061133 Am 80 Am 80 results in increased expression of CTSA mRNAincreases expression 17229644
D004054 Diethylstilbestrol Diethylstilbestrol results in increased expression of CTSA mRNAincreases expression 15289156
D004958 Estradiol Estradiol results in increased expression of CTSA mRNAincreases expression 15289156
D019833 Genistein Genistein results in increased expression of CTSA mRNAincreases expression 15289156
C006253 pirinixic acid pirinixic acid results in decreased expression of CTSA mRNAdecreases expression 20059764
C006253 pirinixic acid PPARA protein promotes the reaction [pirinixic acid results in decreased expression of CTSA mRNA]decreases expression|increases reaction 20059764
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of CTSA mRNAincreases expression 20106945
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.2411752688 14514962 15322242
MESH:D055371 Acute Lung Injury pirinixic acid 3.4218653653
MESH:D000230 Adenocarcinoma Estradiol 4.6611473722
MESH:D000230 Adenocarcinoma Genistein 4.6611473722
MESH:D018248 Adenoma, Liver Cell pirinixic acid 11.2616434500
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 11.2616835633
MESH:D000686 Amyloidosis Diethylstilbestrol 4.8115469931
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.2111748828
MESH:D000799 Angioedema Acetaminophen 4.2910982225
MESH:D001172 Arthritis, Rheumatoid Am 80 3.8016819260
MESH:D050197 Atherosclerosis Am 80 4.4916484594
MESH:D001321 Autistic Disorder Acetaminophen 1.4018445737
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:D001943 Breast Neoplasms Diethylstilbestrol 1.9917129689 15324884
MESH:D001943 Breast Neoplasms Estradiol 1.9912948864 17018787 17289903 18497071 16675129 19861407 14630087 17261762
MESH:D001943 Breast Neoplasms Genistein 1.9916873071 17200150 16541309
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.9920435547
MESH:D002181 Candidiasis, Vulvovaginal Estradiol 4.8616111702
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.0216835633
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 6.883084413
MESH:D006528 Carcinoma, Hepatocellular Diethylstilbestrol 6.8816924424 15948411
MESH:D006528 Carcinoma, Hepatocellular Estradiol 6.8816924424
MESH:D006528 Carcinoma, Hepatocellular Genistein 6.8816924424
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.5018670907 18850075 16120746
MESH:D002318 Cardiovascular Diseases Genistein 3.4816332659
MESH:D002386 Cataract Acetaminophen 2.7310977129
MESH:D002471 Cell Transformation, Neoplastic Estradiol 2.9518566989
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.4116835633
MESH:D002779 Cholestasis pirinixic acid 3.0319176532
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.208697196 15668235 16354765 12621046 15340226
MESH:D003110 Colonic Neoplasms Genistein 2.3217182828
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.3117141729 14669216
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2615322242 10048152 20055451
MESH:D003456 Cryptorchidism Diethylstilbestrol 4.8912952375 16002989
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5318249437
MESH:D003924 Diabetes Mellitus, Type 2 Genistein 4.5116647724
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 4.5117107852
MESH:D003928 Diabetic Nephropathies Estradiol 3.6619279558
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 3.7810774834 16081117 19164858 11287661 14550746 14986274 2444490 19416960 12153990 15968718 12594235 16781746 19923254 11743745 12540782 11739529 16393943 16177239 11529661 18071297 17562736 18713872 19370779 17906064 16485898 12705907 10663392 10915739 15619225 11461765 19420014 19739265 12958197 19085960 11834606 16109766 12392966 14725611 16227642 11421492 17522070
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 3.7820420201
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.5419426721
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 4.3518230668 15322242 16714409
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Am 80 5.4216819260
MESH:D004714 Endometrial Hyperplasia Diethylstilbestrol 13.2516402032
MESH:D004714 Endometrial Hyperplasia Genistein 13.2516402032
MESH:D016889 Endometrial Neoplasms Diethylstilbestrol 13.5215700306 16804899
MESH:D016889 Endometrial Neoplasms Estradiol 13.5219148513 18566989 11473722
MESH:D016889 Endometrial Neoplasms Genistein 13.5211473722
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.2910568697 9294722
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.2111564622
MESH:D005234 Fatty Liver pirinixic acid 3.0420131406 19236843
MESH:D052776 Female Urogenital Diseases Diethylstilbestrol 3.8116002989 16513791 16534752 16611131 15751030
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.8111858732
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.3120067830
OMIM:256540 GALACTOSIALIDOSIS marker/mechanism
MESH:D005756 Gastritis Acetaminophen 4.1216983495
MESH:D005833 Genital Neoplasms, Female Diethylstilbestrol 5.3416452187
MESH:D005909 Glioblastoma Genistein 3.4316598420
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.0410696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.4610048152 11294989
MESH:D006333 Heart Failure pirinixic acid 2.6920558911
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.6211000095
MESH:D006529 Hepatomegaly pirinixic acid 9.4816221962 18467677 19176532 19772884
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 9.4815340226 12621046 16120746
MESH:D006558 Herpes Genitalis Estradiol 5.4815709030
MESH:D019584 Hot Flashes Estradiol 4.1917088409
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.498697196 16959395 15340226 18606429 16354765
MESH:D006930 Hyperalgesia Acetaminophen 2.9216870215
MESH:D006943 Hyperglycemia pirinixic acid 3.4520558911
MESH:D006965 Hyperplasia Diethylstilbestrol 4.7914722030 12960047
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 1.9918670907 18850075
MESH:D007021 Hypospadias Diethylstilbestrol 4.9416002989
MESH:D007246 Infertility Diethylstilbestrol 4.6815036965
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 1.9812200463 12878042
MESH:D007333 Insulin Resistance Estradiol 7.7716393666 16627594
MESH:D007333 Insulin Resistance pirinixic acid 7.7716306350
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.6216580747
MESH:D007674 Kidney Diseases Acetaminophen 6.3712587719 15629191
MESH:D007674 Kidney Diseases Estradiol 6.3715618244
MESH:D007680 Kidney Neoplasms Diethylstilbestrol 8.3314681315 15003126 16762066
MESH:D007680 Kidney Neoplasms Estradiol 8.3315610895
MESH:D007859 Learning Disorders Diethylstilbestrol 4.4217184923
MESH:D007938 Leukemia Genistein 3.1418980019 17468513
MESH:D015473 Leukemia, Promyelocytic, Acute Am 80 4.8116819260 16531727
MESH:D008106 Liver Cirrhosis, Experimental Estradiol 5.1514716833 14659978
MESH:D008106 Liver Cirrhosis, Experimental Genistein 5.1517823541
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 5.1515474484
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 5.1512878042
MESH:D008107 Liver Diseases Acetaminophen 1.6819014921 12969438 19460945 16611625 19784758 11587558 16610002 12587719
MESH:D017114 Liver Failure, Acute Acetaminophen 3.5017185352 16871587
MESH:D008113 Liver Neoplasms Diethylstilbestrol 7.9116712894 15890375
MESH:D008113 Liver Neoplasms pirinixic acid 7.9115890375 20007298 16377806
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 7.9116984957
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 2.2612151625
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 1.2419555203 11884234
MESH:D008181 Lupus Nephritis Diethylstilbestrol 5.5515166399
MESH:D008223 Lymphoma Diethylstilbestrol 3.6615700306
MESH:D052801 Male Urogenital Diseases Diethylstilbestrol 5.9616002989
MESH:D008325 Mammary Neoplasms, Experimental Estradiol 6.6511408345 11807958 16891317 17203775
MESH:D008325 Mammary Neoplasms, Experimental Genistein 6.6514578162 12929590
MESH:D020149 Manganese Poisoning Estradiol 4.9319453300
MESH:D008546 Melanoma, Experimental Acetaminophen 3.9319513568
MESH:D009101 Multiple Myeloma Am 80 4.7217229644
MESH:D009135 Muscular Diseases pirinixic acid 3.8616239165
MESH:D009203 Myocardial Infarction Genistein 6.0017141266
MESH:D009203 Myocardial Infarction pirinixic acid 6.0019151258
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.2412213967
MESH:D015428 Myocardial Reperfusion Injury Estradiol 15.4316810080
MESH:D015428 Myocardial Reperfusion Injury Genistein 15.4317141266
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 15.4316411023
MESH:D009369 Neoplasms Diethylstilbestrol 5.4415313581
MESH:D009369 Neoplasms pirinixic acid 5.4417405874
MESH:D009389 Neovascularization, Pathologic Estradiol 4.1317289903
MESH:D009421 Nervous System Malformations Diethylstilbestrol 26.4011399458
MESH:D009421 Nervous System Malformations Estradiol 26.4011399458 16427766
MESH:D009421 Nervous System Malformations Genistein 26.4016427766
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 26.4014600291
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.1018514411
MESH:D009765 Obesity pirinixic acid 1.8620558911
MESH:D010024 Osteoporosis Genistein 3.4119401787
MESH:D015663 Osteoporosis, Postmenopausal Genistein 4.3916169203
MESH:D010051 Ovarian Neoplasms Estradiol 5.1419401270
MESH:D010051 Ovarian Neoplasms Genistein 5.1419005980
MESH:D010146 Pain Acetaminophen 2.6216870215
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.6912520081
MESH:D010900 Pituitary Diseases Diethylstilbestrol 5.6114722030
MESH:D010911 Pituitary Neoplasms Diethylstilbestrol 5.0315687265 16977796
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.8918163543
MESH:D011297 Prenatal Exposure Delayed Effects Diethylstilbestrol 10.9217184923
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 10.9211222880 11118676 11399792 11896295
MESH:D019048 Prostatic Intraepithelial Neoplasia Estradiol 4.1720887781
MESH:D011471 Prostatic Neoplasms Am 80 2.1316289102
MESH:D011471 Prostatic Neoplasms Diethylstilbestrol 2.1317136230 15046698 15846301
MESH:D011471 Prostatic Neoplasms Estradiol 2.1316740699
MESH:D011471 Prostatic Neoplasms Genistein 2.1316925846 15256057 15378649
MESH:D011565 Psoriasis Am 80 4.1616819260
MESH:D015427 Reperfusion Injury pirinixic acid 2.5019058328
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.1718990726
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.1516192470
MESH:D013088 Spermatocele Diethylstilbestrol 5.1616709447 16002989
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.3512697716
MESH:D013978 Tibial Fractures Estradiol 5.1319048282
MESH:D001749 Urinary Bladder Neoplasms Diethylstilbestrol 2.8616712894 16452187 17306315
MESH:D014581 Urticaria Acetaminophen 3.2810982225
MESH:D002583 Uterine Cervical Neoplasms Diethylstilbestrol 4.3016175088
MESH:D014591 Uterine Diseases Diethylstilbestrol 5.6114652134
MESH:D014594 Uterine Neoplasms Diethylstilbestrol 4.4016690809 15809267
MESH:D014625 Vaginal Neoplasms Diethylstilbestrol 4.7916513791 16002989
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.0412125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.6915886252
Pathway ID Pathway Name
KEGG:04142 Lysosome
KEGG:04614 Renin-angiotensin system
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA33572
    • No data
    No data
    Releated drug ID Related drug Name
    PA449014cisplatin
    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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