AutismKB 2.0

Annotation Detail for SH2B1


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Basic Information Top
Gene Symbol:SH2B1 ( DKFZp547G1110,FLJ30542,KIAA1299,PSM,SH2B )
Gene Full Name: SH2B adaptor protein 1
Band: 16p11.2
Quick LinksEntrez ID:25970; OMIM: 608937; Uniprot ID:SH2B1_HUMAN; ENSEMBL ID: ENSG00000178188; HGNC ID: 30417
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04722Neurotrophin signaling pathway
No data
No data
No data
No data
Related Diseases/Disorders Top
No data
No data
Desease Name
body fat leptin
Body mass index
weight
METABOLIC
Desease Name
Body mass index
Weight
No data
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C016403 2,4-dinitrotoluene 2,4-dinitrotoluene affects the expression of SH2B1 mRNAaffects expression 21346803
D000431 Ethanol Ethanol results in decreased expression of SH2B1 mRNAdecreases expression 17920746
D004997 Ethinyl Estradiol Ethinyl Estradiol results in increased expression of SH2B1 mRNAincreases expression 17942748
D004997 Ethinyl Estradiol [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of SH2B1 mRNAaffects cotreatment|increases expression 17942748
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of SH2B1 mRNAaffects cotreatment|increases expression 17942748
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Ethanol 10.6618926900 17676605
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 10.6611752688 15322242 14514962
MESH:D000138 Acidosis Ethanol 5.1311192467
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.6617505938
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 1.8814692618
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 4.0116835633
MESH:D020268 Alcohol-Induced Disorders, Nervous System Ethanol 6.0415451039 15451040
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.3411748828
MESH:D000853 Anophthalmos Ethanol 5.3815513904
MESH:D001008 Anxiety Disorders Ethanol 4.3311141031
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 4.0211256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.8915885639
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.4712125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.5115340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 3.0015746008
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.6720435547
MESH:D002056 Burns Ethanol 5.2116374292
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.1216835633
MESH:D006528 Carcinoma, Hepatocellular 2,4-dinitrotoluene 3.3316705839
MESH:D006528 Carcinoma, Hepatocellular Ethanol 3.3315763234 15289165 18788625
MESH:D006332 Cardiomegaly Ethanol 7.4919332462
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 7.4918850075 18670907 16120746
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.5316835633
MESH:D002779 Cholestasis Ethinyl Estradiol 3.1716919318 16105132 17333356 17110522 11677210 15861022 17681005
MESH:D002971 Cleft Lip Ethanol 3.7615513904
MESH:D002972 Cleft Palate Ethanol 6.4115513904
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 6.4115340226 16354765 12621046 8697196 15668235
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.4314669216 17141729
MESH:D019465 Craniofacial Abnormalities Ethanol 2.7211198716 15451040 11873399 19302082 15513904 15451039 10194807
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 2.7210048152 15322242 20055451
MESH:D003490 Cyanosis 2,4-dinitrotoluene 4.5818551238
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7417107852
MESH:D056486 Drug-Induced Liver Injury 2,4-dinitrotoluene 6.8021346803 18551238
MESH:D056486 Drug-Induced Liver Injury Ethanol 6.8011566570
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 6.8020420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 3.0511462148
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.8011000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.6218230668 16714409 15322242
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 3.6912538720
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.429294722 10568697
MESH:D004938 Esophageal Neoplasms Ethanol 2.8316704527
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.3111564622
MESH:D005234 Fatty Liver Ethanol 9.3519236843 16409862 18620774
MESH:D005234 Fatty Liver Ethinyl Estradiol 9.3515345470
MESH:D005235 Fatty Liver, Alcoholic Ethanol 6.3917920746
MESH:D005310 Fetal Alcohol Syndrome Ethanol 5.9310194807 16946407 15451040 15513904
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 4.0211858732
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.5120067830
MESH:D005756 Gastritis Ethanol 5.4215046732
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.3210696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.5111294989 10048152
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.7611000095
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.4515340226 12621046 16120746
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.7715340226 18606429 8697196 16959395 16354765
MESH:D006930 Hyperalgesia Ethanol 4.0418783367
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 2.0218850075 18670907
MESH:D007021 Hypospadias Ethinyl Estradiol 4.3716569931 16945680
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.9212013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.7317937319
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 2.0312878042 12200463
MESH:D007569 Jaw Abnormalities Ethanol 11.5715513904
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 11.5716580747
MESH:D007680 Kidney Neoplasms 2,4-dinitrotoluene 3.3216705839
MESH:D007859 Learning Disorders Ethanol 4.7715451040
MESH:D017880 Limb Deformities, Congenital Ethanol 4.0917676605
MESH:D008103 Liver Cirrhosis Ethanol 3.5615289165
MESH:D008104 Liver Cirrhosis, Alcoholic Ethanol 5.7318295389
MESH:D008106 Liver Cirrhosis, Experimental Ethanol 2.5818166357
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 2.5812878042
MESH:D008108 Liver Diseases, Alcoholic Ethanol 5.2117207112 17347304
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 1.8316984957
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 2.3312151625
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 1.2411884234 19555203
MESH:D008569 Memory Disorders Ethanol 4.6915451040 18411066
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.3412213967
MESH:D009336 Necrosis 2,4-dinitrotoluene 4.4918551238
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.7214600291
MESH:D009765 Obesity marker/mechanism 19079261
MESH:D009784 Occupational Diseases 2,4-dinitrotoluene 3.8216049721 12819281
MESH:D010190 Pancreatic Neoplasms Ethanol 3.0812384795
MESH:D016584 Panic Disorder Ethinyl Estradiol 4.1511578682
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.9712520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 4.0718163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.8211222880 11118676 11399792 11896295
MESH:D011537 Pruritus Ethinyl Estradiol 3.9416919318 15861022
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.3518990726
MESH:D012640 Seizures 2,4-dinitrotoluene 6.9818551238
MESH:D012640 Seizures Ethanol 6.989754883
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.2016192470
MESH:D013088 Spermatocele Ethinyl Estradiol 4.6616709447
MESH:D013274 Stomach Neoplasms Ethanol 2.3118456281
MESH:D013276 Stomach Ulcer Ethanol 3.959562338 9211565 11906479 17918041 16755016 17189318
MESH:D013375 Substance Withdrawal Syndrome Ethanol 4.659754883
MESH:D019851 Thrombophilia Ethinyl Estradiol 4.0811994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.5215669648
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.6212697716
MESH:D001749 Urinary Bladder Neoplasms 2,4-dinitrotoluene 2.4116049721
MESH:D014571 Urologic Neoplasms 2,4-dinitrotoluene 4.9510091137
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.8014692618
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.3212125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.9714671159 15869587
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.9715886252
Pathway ID Pathway Name
REACT:604 Hemostasis
KEGG:04722 Neurotrophin signaling pathway
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA145148084
    • No data
    Releated disease ID Related disease Name
    PA445131Obesity
    No data
    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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