AutismKB 2.0

Annotation Detail for PVALB


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Basic Information Top
Gene Symbol:PVALB ( D22S749,MGC116759 )
Gene Full Name: parvalbumin
Band: 22q12.3
Quick LinksEntrez ID:5816; OMIM: 168890; Uniprot ID:PRVA_HUMAN; ENSEMBL ID: ENSG00000100362; HGNC ID: 9704
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1709Parkinson disease
1799Epilepsy
1877Multiple sclerosis
2069Schizophrenia
No data
No data
No data
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 PVALB mRNAincreases expression 19933214
D000643 Ammonium Chloride Ammonium Chloride affects the expression of PVALB mRNAaffects expression 16483693
D001280 Atrazine [Atrazine co-treated with Diuron co-treated with isoproturon] results in decreased expression of PVALB mRNAaffects cotreatment|decreases expression 16532367
C006780 bisphenol A bisphenol A results in increased expression of PVALB mRNAincreases expression 18180321
C487049 BXL628 BXL628 results in decreased expression of PVALB mRNAdecreases expression 16003237
D003024 Clozapine Clozapine inhibits the reaction [Phencyclidine results in decreased expression of PVALB mRNA]decreases expression|decreases reaction 12589379
D004054 Diethylstilbestrol Diethylstilbestrol results in decreased expression of PVALB mRNAdecreases expression 17005392
D004237 Diuron [Atrazine co-treated with Diuron co-treated with isoproturon] results in decreased expression of PVALB mRNAaffects cotreatment|decreases expression 16532367
D018684 Glycine Agents Glycine Agents results in decreased expression of PVALB mRNAdecreases expression 16532367
D006220 Haloperidol Haloperidol inhibits the reaction [Phencyclidine results in decreased expression of PVALB mRNA]decreases expression|decreases reaction 12589379
C028904 isoproturon [Atrazine co-treated with Diuron co-treated with isoproturon] results in decreased expression of PVALB mRNAaffects cotreatment|decreases expression 16532367
D010622 Phencyclidine Clozapine inhibits the reaction [Phencyclidine results in decreased expression of PVALB mRNA]decreases expression|decreases reaction 12589379
D010622 Phencyclidine Haloperidol inhibits the reaction [Phencyclidine results in decreased expression of PVALB mRNA]decreases expression|decreases reaction 12589379
D010622 Phencyclidine Phencyclidine results in decreased expression of PVALB mRNAdecreases expression 12589379
D010852 Picrotoxin Picrotoxin results in decreased expression of PVALB proteindecreases expression 15382257
C004648 testosterone enanthate testosterone enanthate affects the expression of PVALB mRNAaffects expression 17440010
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of PVALB mRNAincreases expression 19933214
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of PVALB mRNAincreases expression 16267337
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 2.9014514962 15322242 11752688
MESH:D000138 Acidosis Ammonium Chloride 3.6118287403
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.4316835633
MESH:D018249 Adenoma, Oxyphilic marker/mechanism 16927643
MESH:D000380 Agranulocytosis Clozapine 5.1014617031 16160616 12649775
MESH:D000382 Agricultural Workers' Diseases Atrazine 4.2711874814
MESH:D000686 Amyloidosis Diethylstilbestrol 4.5215469931
MESH:D000740 Anemia Tetrachlorodibenzodioxin 2.9711748828
MESH:D001321 Autistic Disorder Haloperidol 2.7418080171 19368416
MESH:D001714 Bipolar Disorder marker/mechanism 14708030
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.0712125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 3.8515340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.7815746008
MESH:D001862 Bone Resorption bisphenol A 3.8911985600
MESH:D001943 Breast Neoplasms bisphenol A 1.9117123778
MESH:D001943 Breast Neoplasms Diethylstilbestrol 1.9117129689 15324884
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.9120435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.8216835633
MESH:D006528 Carcinoma, Hepatocellular Diethylstilbestrol 2.2515948411 16924424
MESH:D002278 Carcinoma in Situ bisphenol A 5.0417123778
MESH:D002292 Carcinoma, Renal Cell marker/mechanism 16927643
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.3816120746 18850075 18670907
MESH:D002375 Catalepsy Haloperidol 4.9615215559 1977408
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.1916835633
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.118697196 15340226 15668235 12621046 16354765
MESH:D003072 Cognition Disorders Clozapine 5.0117123785
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.0817141729 14669216
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2510048152 15322242 20055451
MESH:D003456 Cryptorchidism Diethylstilbestrol 4.5912952375 16002989
MESH:D016757 Death, Sudden, Cardiac Haloperidol 4.8720210726
MESH:D003704 Dementia Haloperidol 4.6111575062
MESH:D003924 Diabetes Mellitus, Type 2 Clozapine 4.5316402076
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 4.5317107852
MESH:D006970 Disorders of Excessive Somnolence Clozapine 5.6215331141
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 1.5420420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.7811462148
MESH:D050171 Dyslipidemias Clozapine 4.2016402076
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.4112711302 11000095
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 3.9615322242 16714409 18230668
MESH:D004714 Endometrial Hyperplasia Diethylstilbestrol 4.7416402032
MESH:D016889 Endometrial Neoplasms Diethylstilbestrol 3.4815700306 16804899
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.0510568697 9294722
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.0311564622
MESH:D052776 Female Urogenital Diseases Diethylstilbestrol 3.6715751030 16611131 16002989 16513791 16534752
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.5011858732
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 2.9920067830
MESH:D005833 Genital Neoplasms, Female Diethylstilbestrol 5.0016452187
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.6610696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.3411294989 10048152
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.3611000095
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 2.9312621046 16120746 15340226
MESH:D019247 HIV Wasting Syndrome testosterone enanthate 5.8117440010
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.1118606429 8697196 16959395 15340226 16354765
MESH:D006948 Hyperkinesis Clozapine 4.9616046005
MESH:D006965 Hyperplasia Diethylstilbestrol 4.4812960047 14722030
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 1.9118850075 18670907
MESH:D007021 Hypospadias Diethylstilbestrol 4.6216002989
MESH:D007246 Infertility Diethylstilbestrol 4.3915036965
MESH:D007248 Infertility, Male Atrazine 3.7312948887
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 1.8712878042 12200463
MESH:D007333 Insulin Resistance bisphenol A 3.3116393666
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.3616580747
MESH:D007680 Kidney Neoplasms Diethylstilbestrol 3.4814681315 15003126 16762066
MESH:D007859 Learning Disorders Diethylstilbestrol 4.1017184923
MESH:D008064 Lipidoses Clozapine 3.9817567588
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 1.2412878042
MESH:D008113 Liver Neoplasms Diethylstilbestrol 4.5816712894 15890375
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 4.5816984957
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 2.1212151625
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 1.2319555203 11884234
MESH:D008181 Lupus Nephritis Diethylstilbestrol 5.2015166399
MESH:D008223 Lymphoma Diethylstilbestrol 3.4915700306
MESH:D052801 Male Urogenital Diseases Diethylstilbestrol 5.5816002989
MESH:D001523 Mental Disorders Clozapine 8.5316856516
MESH:D001523 Mental Disorders Haloperidol 8.5316856516
MESH:D008654 Mesothelioma Atrazine 3.541916698
MESH:D024821 Metabolic Syndrome X Clozapine 4.4319142101
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.0412213967
MESH:D009369 Neoplasms Diethylstilbestrol 2.7815313581
MESH:D009421 Nervous System Malformations bisphenol A 16.6516427766 11399458
MESH:D009421 Nervous System Malformations Diethylstilbestrol 16.6511399458
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 16.6514600291
MESH:D009765 Obesity Clozapine 3.0218515891 19142110
MESH:D010049 Ovarian Diseases bisphenol A 5.0411985600
MESH:D010300 Parkinson Disease Atrazine 3.2817218051
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.3112520081
MESH:D010900 Pituitary Diseases Diethylstilbestrol 5.2314722030
MESH:D010911 Pituitary Neoplasms Diethylstilbestrol 4.7115687265 16977796
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.5918163543
MESH:D011297 Prenatal Exposure Delayed Effects bisphenol A 16.6010548101
MESH:D011297 Prenatal Exposure Delayed Effects Diethylstilbestrol 16.6017184923
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 16.6011222880 11896295 11399792 11118676
MESH:D011470 Prostatic Hyperplasia BXL628 6.5716957418 15572423
MESH:D019048 Prostatic Intraepithelial Neoplasia bisphenol A 4.2420887781
MESH:D011471 Prostatic Neoplasms bisphenol A 3.4416740699
MESH:D011471 Prostatic Neoplasms Diethylstilbestrol 3.4417136230 15046698 15846301
MESH:D011595 Psychomotor Agitation Haloperidol 5.0011575062
MESH:D011618 Psychotic Disorders marker/mechanism 14708030
MESH:D011618 Psychotic Disorders Clozapine 9.2215331141
MESH:D011618 Psychotic Disorders Haloperidol 9.2211575062
MESH:D011629 Puberty, Precocious bisphenol A 4.8410548101
MESH:D012135 Respiratory Sounds Atrazine 4.5611874814
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 3.8718990726
MESH:D012559 Schizophrenia marker/mechanism 14708030
MESH:D012559 Schizophrenia Clozapine 4.1120580759 20168265 20521326 20521320 18806925 11151749 17726453 20107430 11763009 18855531 20452607 16141801 17123785 17667964 19369910
MESH:D012559 Schizophrenia Haloperidol 4.111830565 19369910 20107430 18513383
MESH:D012640 Seizures Picrotoxin 4.018954991 8635557
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.0516192470
MESH:D013088 Spermatocele Diethylstilbestrol 4.7716709447 16002989
MESH:D019966 Substance-Related Disorders bisphenol A 4.0316684133 16045194
MESH:D017180 Tachycardia, Ventricular Haloperidol 4.7420210726
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 3.9612697716
MESH:D001749 Urinary Bladder Neoplasms Diethylstilbestrol 2.7816452187 17306315 16712894
MESH:D002583 Uterine Cervical Neoplasms Diethylstilbestrol 4.0616175088
MESH:D014591 Uterine Diseases bisphenol A 14.0314652134
MESH:D014591 Uterine Diseases Diethylstilbestrol 14.0314652134
MESH:D014594 Uterine Neoplasms Diethylstilbestrol 4.1015809267 16690809
MESH:D014625 Vaginal Neoplasms Diethylstilbestrol 4.4816513791 16002989
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.6612125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.3115886252
MESH:D015430 Weight Gain Clozapine 4.4920521320 16402076 16141801 17502770 20564506 20107430
MESH:D015431 Weight Loss Clozapine 5.1317933447
No data
Pharmacogenomics Knowledge Base Top
Drug Bank Top
Drugbank ID Action Drug Name Description
DB01942 - Formic Acid Antibacterial Agents
DB02575 - Tetraethylene Glycol
No data
No data
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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