AutismKB 2.0

Annotation Detail for SH3GL1


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Basic Information Top
Gene Symbol:SH3GL1 ( CNSA1,EEN,MGC111371,SH3D2B,SH3P8 )
Gene Full Name: SH3-domain GRB2-like 1
Band: 19p13.3
Quick LinksEntrez ID:6455; OMIM: 601768; Uniprot ID:SH3G1_HUMAN; ENSEMBL ID: ENSG00000141985; HGNC ID: 10830
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04144Endocytosis
No data
Pathway IDPathway Name
200192Signaling events mediated by focal adhesion kinase
No data
No data
Related Diseases/Disorders Top
No data
No data
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No data
Desease Name
Leukemia, acute myeloid
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C016403 2,4-dinitrotoluene 2,4-dinitrotoluene affects the expression of SH3GL1 mRNAaffects expression 21346803
C009505 4,4'-diaminodiphenylmethane 4,4'-diaminodiphenylmethane results in increased expression of SH3GL1 mRNAincreases expression 18648102
D000082 Acetaminophen Acetaminophen affects the expression of SH3GL1 mRNAaffects expression 17562736
C004541 biochanin A biochanin A results in increased expression of SH3GL1 mRNAincreases expression 12111696
D004997 Ethinyl Estradiol Ethinyl Estradiol affects the expression of SH3GL1 mRNAaffects expression 17555576
D004997 Ethinyl Estradiol Ethinyl Estradiol results in increased expression of SH3GL1 mRNAincreases expression 17942748
D004997 Ethinyl Estradiol [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of SH3GL1 mRNAaffects cotreatment|increases expression 17942748
D013629 Tamoxifen Tamoxifen affects the expression of SH3GL1 mRNAaffects expression 17555576
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of SH3GL1 mRNAaffects cotreatment|increases expression 17942748
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000008 Abdominal Neoplasms Tamoxifen 4.9914745880
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.2415322242 11752688 14514962
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.3817505938
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 1.8614692618
MESH:D000236 Adenoma 4,4'-diaminodiphenylmethane 2.903712494
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.7716835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.2111748828
MESH:D000799 Angioedema Acetaminophen 4.2910982225
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.8211256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.8215885639
MESH:D001321 Autistic Disorder Acetaminophen 1.4018445737
MESH:D001660 Biliary Tract Diseases 4,4'-diaminodiphenylmethane 5.4611289319 1440618
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.3312125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.2315340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.9315746008
MESH:D001943 Breast Neoplasms Tamoxifen 1.9320390343 17440819 19410462 19155303 17893378 18425577 15565566 16873071 19487384 19244106 19011961 17242785 18815881 18629630 16202921 18821012 18855134 19200415 21138602 11161223 15668708 21152245 19084267 19288272 19189212 20065188 19189210 16273361 19142967 19059307 20544844 19066611 17261762 18997820 17049068 19289846 19221464 19103187 19115204 20135344 18351453 20005174 16818667 18984771 20859285
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.9320435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.0216835633
MESH:D018270 Carcinoma, Ductal, Breast Tamoxifen 4.8719066611
MESH:D006528 Carcinoma, Hepatocellular 2,4-dinitrotoluene 6.8416705839
MESH:D006528 Carcinoma, Hepatocellular 4,4'-diaminodiphenylmethane 6.847296757 3581430
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 6.843084413
MESH:D006528 Carcinoma, Hepatocellular Tamoxifen 6.8416924424
MESH:D002292 Carcinoma, Renal Cell 4,4'-diaminodiphenylmethane 2.787296757
MESH:D002295 Carcinoma, Transitional Cell Tamoxifen 3.8817572228
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.5018850075 18670907 16120746
MESH:D002386 Cataract Acetaminophen 2.7310977129
MESH:D002471 Cell Transformation, Neoplastic 4,4'-diaminodiphenylmethane 2.947505956
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.4116835633
MESH:D002779 Cholestasis 4,4'-diaminodiphenylmethane 8.549022650 19486331
MESH:D002779 Cholestasis Ethinyl Estradiol 8.5416919318 15861022 17681005 17333356 16105132 17110522 11677210
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.2012621046 15340226 16354765 8697196 15668235
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.3114669216 17141729
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2610048152 20055451 15322242
MESH:D003490 Cyanosis 2,4-dinitrotoluene 4.3718551238
MESH:D003711 Demyelinating Diseases Tamoxifen 4.7219031437
MESH:D017449 Dermatitis, Allergic Contact 4,4'-diaminodiphenylmethane 3.158970840 8156756 12868966 14531868 18759878 2524372 11298694 11906362
MESH:D003877 Dermatitis, Contact 4,4'-diaminodiphenylmethane 3.792952479 3621924
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7217107852
MESH:D003928 Diabetic Nephropathies Tamoxifen 3.7219279558
MESH:D056486 Drug-Induced Liver Injury 2,4-dinitrotoluene 9.5218551238 21346803
MESH:D056486 Drug-Induced Liver Injury 4,4'-diaminodiphenylmethane 9.5218692083 1440618 18289764 6679447 8291058 18648102 9022650 16192314 9653073 9328219 6482804 7440962 11289319
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 9.5215968718 16781746 16393943 19739265 10774834 11461765 10663392 11739529 18713872 17906064 12540782 19416960 14986274 11529661 2444490 11743745 11421492 12705907 19164858 10915739 11834606 18071297 16227642 14725611 19420014 16081117 19923254 16109766 12594235 11287661 17522070 12958197 19085960 17562736 19370779 16485898 14550746 15619225 16177239 12392966 12153990
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 9.5220420201
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.5419426721
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.9611462148
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.6512711302 11000095
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.3515322242 16714409 18230668
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 10.0612538720
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Tamoxifen 10.0619031437
MESH:D016889 Endometrial Neoplasms Tamoxifen 3.2120544844 19155303 16202921 17893378
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.299294722 10568697
MESH:D004938 Esophageal Neoplasms 4,4'-diaminodiphenylmethane 2.163581430
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.2111564622
MESH:D005234 Fatty Liver Ethinyl Estradiol 8.6415345470
MESH:D005234 Fatty Liver Tamoxifen 8.6419224547 14986274
MESH:D052776 Female Urogenital Diseases Tamoxifen 3.3916709447
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.8111858732
MESH:D005350 Fibroma 4,4'-diaminodiphenylmethane 5.466705139
MESH:D018221 Fibromatosis, Abdominal Tamoxifen 4.9214745880
MESH:D018222 Fibromatosis, Aggressive Tamoxifen 4.5819069698
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.3120067830
MESH:D005756 Gastritis Acetaminophen 4.1216983495
MESH:D005909 Glioblastoma biochanin A 4.6316598420
MESH:D006042 Goiter 4,4'-diaminodiphenylmethane 4.347505956
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.0410696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.4611294989 10048152
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.6211000095
MESH:D006505 Hepatitis 4,4'-diaminodiphenylmethane 3.846705139
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.2515340226 12621046 16120746
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.4915340226 16354765 18606429 16959395 8697196
MESH:D006930 Hyperalgesia Acetaminophen 2.9216870215
MESH:D006965 Hyperplasia 4,4'-diaminodiphenylmethane 4.3015034207
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 1.9918850075 18670907
MESH:D007021 Hypospadias Ethinyl Estradiol 4.1716945680 16569931
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.7712013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.6617937319
MESH:D007249 Inflammation Tamoxifen 5.3219457130
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 5.3212200463 12878042
MESH:D007565 Jaundice 4,4'-diaminodiphenylmethane 5.468074119 9022650
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.6216580747
MESH:D007674 Kidney Diseases Acetaminophen 2.3412587719 15629191
MESH:D007680 Kidney Neoplasms 2,4-dinitrotoluene 13.8016705839
MESH:D007680 Kidney Neoplasms 4,4'-diaminodiphenylmethane 13.806582329
MESH:D007680 Kidney Neoplasms Tamoxifen 13.8018625569
MESH:D015470 Leukemia, Myeloid, Acute marker/mechanism
MESH:D008064 Lipidoses Tamoxifen 3.3517567588 15342952
MESH:D008105 Liver Cirrhosis, Biliary 4,4'-diaminodiphenylmethane 3.3515034207 9327722
MESH:D008106 Liver Cirrhosis, Experimental Tamoxifen 2.3518564211
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 2.3512878042
MESH:D008107 Liver Diseases Acetaminophen 1.6819460945 16611625 19784758 16610002 19014921 11587558 12969438 12587719
MESH:D017114 Liver Failure, Acute Acetaminophen 3.5017185352 16871587
MESH:D008113 Liver Neoplasms Tamoxifen 4.6916684651
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 4.6916984957
MESH:D008114 Liver Neoplasms, Experimental 4,4'-diaminodiphenylmethane 6.27598648 3712494 6587162 1399818
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 6.2712151625
MESH:D008175 Lung Neoplasms Tamoxifen 2.3118625569
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 2.3111884234 19555203
MESH:D015674 Mammary Neoplasms, Animal Tamoxifen 4.1519428831
MESH:D008325 Mammary Neoplasms, Experimental Tamoxifen 2.7914580682 19196722 11731420 19196723 16827153
MESH:D020149 Manganese Poisoning Tamoxifen 4.9919453300
MESH:D008545 Melanoma Tamoxifen 1.9119393235 12393984
MESH:D018328 Melanoma, Amelanotic Tamoxifen 4.5815990972
MESH:D008546 Melanoma, Experimental Acetaminophen 3.9319513568
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.2412213967
MESH:D009336 Necrosis 2,4-dinitrotoluene 4.2518551238
MESH:D009362 Neoplasm Metastasis 4,4'-diaminodiphenylmethane 6.013581430
MESH:D009362 Neoplasm Metastasis Tamoxifen 6.0119393235
MESH:D009364 Neoplasm Recurrence, Local Tamoxifen 2.5919410462
MESH:D009376 Neoplasms, Hormone-Dependent Tamoxifen 4.4419200415 19196722 19189210
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.5414600291
MESH:D009436 Neural Tube Defects 4,4'-diaminodiphenylmethane 3.086679447
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.1018514411
MESH:D009784 Occupational Diseases 2,4-dinitrotoluene 9.7816049721 12819281
MESH:D009784 Occupational Diseases 4,4'-diaminodiphenylmethane 9.784026338 6482804
MESH:D009902 Optic Neuritis 4,4'-diaminodiphenylmethane 5.463988306
MESH:D010146 Pain Acetaminophen 2.6216870215
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.9911578682
MESH:D010212 Papilloma 4,4'-diaminodiphenylmethane 3.847296757
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.6912520081
MESH:D010787 Photosensitivity Disorders 4,4'-diaminodiphenylmethane 4.916228378
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.8918163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.5911399792 11118676 11896295 11222880
MESH:D011471 Prostatic Neoplasms biochanin A 3.6912111696
MESH:D011471 Prostatic Neoplasms Tamoxifen 3.6915067354
MESH:D011537 Pruritus Ethinyl Estradiol 3.7115861022 16919318
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.1718990726
MESH:D012162 Retinal Degeneration 4,4'-diaminodiphenylmethane 3.583692021
MESH:D012640 Seizures 2,4-dinitrotoluene 2.7118551238
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.1516192470
MESH:D013088 Spermatocele Ethinyl Estradiol 13.0916709447
MESH:D013088 Spermatocele Tamoxifen 13.0916709447
MESH:D013119 Spinal Cord Injuries Tamoxifen 4.4319457130
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.9211994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.4015669648
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.3512697716
MESH:D013964 Thyroid Neoplasms 4,4'-diaminodiphenylmethane 3.093712494 7505956 1399818 6582329 6587162
MESH:D001749 Urinary Bladder Neoplasms 2,4-dinitrotoluene 8.8316049721
MESH:D001749 Urinary Bladder Neoplasms 4,4'-diaminodiphenylmethane 8.838074119
MESH:D001749 Urinary Bladder Neoplasms Tamoxifen 8.8317572228 16712894 8653321
MESH:D014571 Urologic Neoplasms 2,4-dinitrotoluene 4.7110091137
MESH:D014581 Urticaria Acetaminophen 3.2810982225
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.6314692618
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.0412125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.8215869587 14671159
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.6915886252
Pathway ID Pathway Name
KEGG:04144 Endocytosis
Pharmacogenomics Knowledge Base Top
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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