AutismKB 2.0

Annotation Detail for SH2D4A


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Basic Information Top
Gene Symbol:SH2D4A ( FLJ20967,SH2A )
Gene Full Name: SH2 domain containing 4A
Band: 8p21.3
Quick LinksEntrez ID:63898; OMIM: NA; Uniprot ID:SH24A_HUMAN; ENSEMBL ID: ENSG00000104611; HGNC ID: 26102
Relate to Another Database: SFARIGene; denovo-db
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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 decreased expression of SH2D4A mRNAdecreases expression 19933214
D001542 Benomyl Benomyl results in increased expression of SH2D4A mRNAincreases expression 15885261
D015123 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in decreased expression of SH2D4A mRNAdecreases expression 19150397
D020122 tert-Butylhydroperoxide tert-Butylhydroperoxide results in decreased expression of SH2D4A mRNAdecreases expression 15336504
D003633 Dichlorodiphenyl Dichloroethylene Dichlorodiphenyl Dichloroethylene results in increased expression of SH2D4A mRNAincreases expression 15885261
D005485 Flutamide Flutamide results in increased expression of SH2D4A mRNAincreases expression 15885261
D010634 Phenobarbital Phenobarbital affects the expression of SH2D4A mRNAaffects expression 19136022
D010634 Phenobarbital Phenobarbital results in increased expression of SH2D4A mRNAincreases expression 19270015
C006253 pirinixic acid pirinixic acid affects the expression of SH2D4A mRNAaffects expression 19136022
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in decreased expression of SH2D4A mRNAaffects binding|decreases expression|increases activity 19710929
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in decreased expression of SH2D4A mRNAdecreases expression 20106945
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in decreased expression of SH2D4A mRNAdecreases expression 19933214
C025643 vinclozolin vinclozolin affects the expression of SH2D4A mRNAaffects expression 19015723
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Phenobarbital 9.106195326
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 9.1011752688 14514962 15322242
MESH:D055371 Acute Lung Injury pirinixic acid 3.3018653653
MESH:D018248 Adenoma, Liver Cell Phenobarbital 18.7417620307
MESH:D018248 Adenoma, Liver Cell pirinixic acid 18.7416434500
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 18.7416835633
MESH:D000382 Agricultural Workers' Diseases Dichlorodiphenyl Dichloroethylene 5.0316487989
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.1111748828
MESH:D000853 Anophthalmos Benomyl 6.2715907663
MESH:D001008 Anxiety Disorders vinclozolin 3.7819015723
MESH:D001778 Blood Coagulation Disorders pirinixic acid 9.3519483382
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 9.3512125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.0615340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.8715746008
MESH:D001943 Breast Neoplasms Dichlorodiphenyl Dichloroethylene 2.4815061365
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 2.4820435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.9316835633
MESH:D006528 Carcinoma, Hepatocellular Phenobarbital 1.9317173139 1701930 6705139 20007298 20935162
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.4518850075 18670907 16120746
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 2.8420889678
MESH:D002493 Central Nervous System Diseases Phenobarbital 4.474080065
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.3116835633
MESH:D002779 Cholestasis pirinixic acid 2.9519176532
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.168697196 15668235 15340226 16354765 12621046
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.2114669216 17141729
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2610048152 20055451 15322242
MESH:D003456 Cryptorchidism vinclozolin 4.5414966744
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.4918249437
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7017107852
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 1.5720420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.8911462148
MESH:D004417 Dyspnea Dichlorodiphenyl Dichloroethylene 5.5316487989
MESH:D004421 Dystonia Phenobarbital 4.191851702
MESH:D004487 Edema pirinixic acid 7.1112083418
MESH:D004487 Edema Tetrachlorodibenzodioxin 7.1111000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.1718230668 15322242 16714409
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.1810568697 9294722
MESH:D004831 Epilepsies, Myoclonic Phenobarbital 4.323659116
MESH:D004828 Epilepsies, Partial Phenobarbital 4.1411558140 3922381
MESH:D004827 Epilepsy Phenobarbital 2.9720417680
MESH:D004832 Epilepsy, Absence Phenobarbital 3.696401628
MESH:D017029 Epilepsy, Complex Partial Phenobarbital 4.477750514
MESH:D004830 Epilepsy, Tonic-Clonic Phenobarbital 4.263659116
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 2.1120426865
MESH:D005124 Eye Abnormalities Benomyl 9.901914497
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 9.9011564622
MESH:D005234 Fatty Liver pirinixic acid 2.9320131406 19236843
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.6711858732
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.1620067830
MESH:D030342 Genetic Diseases, Inborn vinclozolin 5.1716973722
MESH:D005832 Genital Diseases, Male vinclozolin 5.5716417039
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.8610696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.4111294989 10048152
MESH:D006333 Heart Failure pirinixic acid 2.6320558911
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.5111000095
MESH:D006505 Hepatitis Dichlorodiphenyl Dichloroethylene 5.2416487989
MESH:D006529 Hepatomegaly Phenobarbital 15.6916109766
MESH:D006529 Hepatomegaly pirinixic acid 15.6918467677 16221962 19176532 19772884
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 15.6912621046 15340226 16120746
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.3116959395 18606429 16354765 15340226 8697196
MESH:D017588 Hyperandrogenism Flutamide 5.7215356085
MESH:D006943 Hyperglycemia pirinixic acid 3.3420558911
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 1.9618850075 18670907
MESH:D007248 Infertility, Male Dichlorodiphenyl Dichloroethylene 7.6912948891 17192596
MESH:D007248 Infertility, Male vinclozolin 7.6916467254
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 1.9312878042 12200463
MESH:D007333 Insulin Resistance pirinixic acid 2.7416306350
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.5116580747
MESH:D007984 Leydig Cell Tumor vinclozolin 4.9716417039
MESH:D017880 Limb Deformities, Congenital Dichlorodiphenyl Dichloroethylene 4.8112745335
MESH:D008103 Liver Cirrhosis Phenobarbital 2.9821047994
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 2.1815474484
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 2.1812878042
MESH:D008107 Liver Diseases Phenobarbital 2.2019363144
MESH:D008113 Liver Neoplasms Phenobarbital 7.688742319 19073162 21047994 15975961 19482888 19812893
MESH:D008113 Liver Neoplasms pirinixic acid 7.6816377806 15890375 20007298
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 7.6816984957
MESH:D008114 Liver Neoplasms, Experimental Phenobarbital 6.131399818 17172636 18308698 6150874 2563599
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 6.1312151625
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 1.2411884234 19555203
MESH:D009135 Muscular Diseases pirinixic acid 3.7216239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.2019151258
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.1612213967
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.0816411023
MESH:D020191 Myoclonic Epilepsies, Progressive Phenobarbital 4.7117484760
MESH:D009369 Neoplasms pirinixic acid 2.0217405874
MESH:D009421 Nervous System Malformations Benomyl 10.8214502586
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 10.8214600291
MESH:D009765 Obesity pirinixic acid 1.8520558911
MESH:D010018 Osteomalacia Phenobarbital 4.6017016548
MESH:D010190 Pancreatic Neoplasms Phenobarbital 2.5416965848
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.5112520081
MESH:D011085 Polycystic Ovary Syndrome Flutamide 5.1815356085
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.7618163543
MESH:D011230 Precancerous Conditions Phenobarbital 3.772563599
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 10.2911399792 11896295 11118676 11222880
MESH:D011297 Prenatal Exposure Delayed Effects vinclozolin 10.2918042343 18220299 19015723
MESH:D011469 Prostatic Diseases vinclozolin 5.1718220299
MESH:D011471 Prostatic Neoplasms Flutamide 4.383169114
MESH:D011472 Prostatitis vinclozolin 5.1718629315
MESH:D019310 Pseudolymphoma Phenobarbital 4.7612752131
MESH:D015427 Reperfusion Injury pirinixic acid 2.4619058328
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.0418990726
MESH:D012640 Seizures Phenobarbital 2.803137016 11442880 4039156 16876388
MESH:D003294 Seizures, Febrile Phenobarbital 5.066407741
MESH:D012878 Skin Neoplasms tert-Butylhydroperoxide 5.838532709
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 5.8316192470
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.1712697716
MESH:D013964 Thyroid Neoplasms Phenobarbital 3.181399818
MESH:D014570 Urologic Diseases Dichlorodiphenyl Dichloroethylene 6.0116487989
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.8612125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.5115886252
No data
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  (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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