AutismKB 2.0

Annotation Detail for ARHGEF1


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Basic Information Top
Gene Symbol:ARHGEF1 ( GEF1,LBCL2,LSC,P115-RHOGEF,SUB1.5 )
Gene Full Name: Rho guanine nucleotide exchange factor (GEF) 1
Band: 19q13.2
Quick LinksEntrez ID:9138; OMIM: 601855; Uniprot ID:ARHG1_HUMAN; ENSEMBL ID: ENSG00000076928; HGNC ID: 681
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04270Vascular smooth muscle contraction
hsa04810Regulation of actin cytoskeleton
Pathway IDPathway Name
Signaling by GPCR
Signalling by NGF
Pathway IDPathway Name
200069Thromboxane A2 receptor signaling
200011LPA receptor mediated events
200050Regulation of RhoA activity
Pathway IDPathway Name
P00016Cytoskeletal regulation by Rho GTPase
P00007Axon guidance mediated by semaphorins
P00027Heterotrimeric G-protein signaling pathway-Gq alpha and Go alpha mediated pathway
Pathway IDPathway Name
500437G alpha (12/13) signalling events
500617p75NTR regulates axonogenesis
500618Axonal growth stimulation
500619Axonal growth inhibition (RHOA activation)
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1850Herpes
1986Eating disorder
No data
No data
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 ARHGEF1 mRNAaffects expression 21346803
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene affects the expression of ARHGEF1 mRNAaffects expression 21346803
D000082 Acetaminophen Acetaminophen affects the expression of ARHGEF1 mRNAaffects expression 17562736
D000643 Ammonium Chloride Ammonium Chloride affects the expression of ARHGEF1 mRNAaffects expression 16483693
D004317 Doxorubicin Doxorubicin results in increased expression of ARHGEF1 mRNAincreases expression 16404146
D004997 Ethinyl Estradiol Ethinyl Estradiol results in increased expression of ARHGEF1 mRNAincreases expression 17942748
D004997 Ethinyl Estradiol [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of ARHGEF1 mRNAaffects cotreatment|increases expression 17942748
D007529 Isoflavones Isoflavones affects the expression of ARHGEF1 mRNAaffects expression 16365062
C006253 pirinixic acid pirinixic acid results in decreased expression of ARHGEF1 mRNAdecreases expression 17426115
D018038 Sodium Selenite Sodium Selenite results in decreased expression of ARHGEF1 mRNAdecreases expression 18175754
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of ARHGEF1 mRNAaffects cotreatment|increases expression 17942748
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of ARHGEF1 mRNAincreases expression 17942748
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.0811752688 15322242 14514962
MESH:D000138 Acidosis Ammonium Chloride 3.8018287403
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.2117505938
MESH:D055371 Acute Lung Injury pirinixic acid 3.3018653653
MESH:D000230 Adenocarcinoma Doxorubicin 4.5217418594
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 4.5214692618
MESH:D018248 Adenoma, Liver Cell pirinixic acid 10.7116434500
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 10.7116835633
MESH:D000419 Albuminuria Doxorubicin 4.7421441931
MESH:D000505 Alopecia Isoflavones 4.8517569567
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.1111748828
MESH:D000799 Angioedema Acetaminophen 4.1110982225
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.6811256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.7615885639
MESH:D001321 Autistic Disorder Acetaminophen 1.4118445737
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:D019046 Bone Marrow Neoplasms Doxorubicin 4.9614601052
MESH:D001932 Brain Neoplasms Doxorubicin 3.9717150277
MESH:D001943 Breast Neoplasms Doxorubicin 2.0916826403 16322301 15993339 15136595 16115903 18695136 18234424 19526202 15692762 15939500 17369602 15634643 18382427 16935488 11325840 16264153 17983394 16595493 15994142 15567936 15668708 17426702 16096432 18628466
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 2.0920435547
MESH:D002276 Carcinoid Tumor Doxorubicin 5.0816051944
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.9316835633
MESH:D006528 Carcinoma, Hepatocellular 2,4-dinitrotoluene 6.7616705839
MESH:D006528 Carcinoma, Hepatocellular 2,6-dinitrotoluene 6.7616705839
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 6.763084413
MESH:D006528 Carcinoma, Hepatocellular Doxorubicin 6.7616234567 16023760 17876044 18059187
MESH:D002292 Carcinoma, Renal Cell Doxorubicin 3.2316201981 1485588
MESH:D002294 Carcinoma, Squamous Cell Doxorubicin 2.676189445
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.4518850075 18670907 16120746
MESH:D009202 Cardiomyopathies Doxorubicin 3.6418627295 17519947 15811867 17308081 17928571 16612575 16952015 17924179 17382496 16242529 16651473 17974986 16278810 17007740 17351982 16455267 15792986 17329180 17131338 16364871 15476868 15505089 16109756 16269455 16731534
MESH:D002311 Cardiomyopathy, Dilated Doxorubicin 2.9916243910 17334414
MESH:D002318 Cardiovascular Diseases Isoflavones 4.2617689850
MESH:D002386 Cataract Acetaminophen 2.6710977129
MESH:D002471 Cell Transformation, Neoplastic 2,6-dinitrotoluene 2.886135515
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.3116835633
MESH:D002779 Cholestasis Ethinyl Estradiol 8.1717681005 17333356 16105132 17110522 16919318 15861022 11677210
MESH:D002779 Cholestasis pirinixic acid 8.1719176532
MESH:D019457 Chromosome Breakage Sodium Selenite 4.9715894690
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.168697196 12621046 16354765 15668235 15340226
MESH:D015179 Colorectal Neoplasms Doxorubicin 3.0118802399 18259882
MESH:D015179 Colorectal Neoplasms Isoflavones 3.0117116718
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.2114669216 17141729
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2615322242 20055451 10048152
MESH:D003490 Cyanosis 2,4-dinitrotoluene 11.6318551238
MESH:D003490 Cyanosis 2,6-dinitrotoluene 11.6318551238
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.4918249437
MESH:D003920 Diabetes Mellitus Sodium Selenite 3.9316285004
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7017107852
MESH:D056486 Drug-Induced Liver Injury 2,4-dinitrotoluene 15.8821346803 18551238
MESH:D056486 Drug-Induced Liver Injury 2,6-dinitrotoluene 15.8821346803 18551238
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 15.8817906064 12958197 10663392 19739265 12705907 14986274 12153990 14725611 10915739 11834606 11287661 16781746 14550746 16227642 11529661 16081117 12540782 19416960 19085960 11461765 18713872 18071297 11739529 17522070 2444490 11421492 16177239 16393943 15619225 10774834 19370779 11743745 19420014 15968718 16109766 16485898 19164858 19923254 12594235 12392966 17562736
MESH:D056486 Drug-Induced Liver Injury Doxorubicin 15.8817416283
MESH:D056486 Drug-Induced Liver Injury Sodium Selenite 15.8815131321
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 15.8820420201
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.3619426721
MESH:D004362 Drug Toxicity Doxorubicin 8.5318602426
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 8.5311462148
MESH:D004487 Edema pirinixic acid 7.1112083418
MESH:D004487 Edema Tetrachlorodibenzodioxin 7.1111000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.1715322242 16714409 18230668
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 3.3812538720
MESH:D016889 Endometrial Neoplasms Doxorubicin 3.5617359293
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.189294722 10568697
MESH:D004719 Endomyocardial Fibrosis Doxorubicin 5.4218037988
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.1411564622
MESH:D005234 Fatty Liver Ethinyl Estradiol 8.1215345470
MESH:D005234 Fatty Liver pirinixic acid 8.1220131406 19236843
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.6711858732
MESH:D018222 Fibromatosis, Aggressive Doxorubicin 4.8319069698
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.1620067830
MESH:D005756 Gastritis Acetaminophen 3.9416983495
MESH:D005909 Glioblastoma Doxorubicin 3.4517150277
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.8610696789
MESH:D006258 Head and Neck Neoplasms Doxorubicin 3.6415692506
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.4110048152 11294989
MESH:D006331 Heart Diseases Doxorubicin 3.6016495754 14766674 16244372 16879835 16244371 18006777 12587719 17875725 16707910 16144979 17888722 18674790 16330681
MESH:D006333 Heart Failure Doxorubicin 7.3817481944
MESH:D006333 Heart Failure pirinixic acid 7.3820558911
MESH:D006394 Hemangiosarcoma Doxorubicin 4.0715692506
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.5111000095
MESH:D006529 Hepatomegaly pirinixic acid 8.9919772884 18467677 19176532 16221962
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 8.9915340226 12621046 16120746
MESH:D006689 Hodgkin Disease Doxorubicin 3.5615147373 18501091 17606976
MESH:D019584 Hot Flashes Isoflavones 5.2514716179 17290160
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.3115340226 8697196 18606429 16354765 16959395
MESH:D006930 Hyperalgesia Acetaminophen 2.8416870215
MESH:D006943 Hyperglycemia pirinixic acid 3.3420558911
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 1.9618850075 18670907
MESH:D007021 Hypospadias Ethinyl Estradiol 4.0216945680 16569931
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.6512013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.5917937319
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 1.9312200463 12878042
MESH:D007333 Insulin Resistance pirinixic acid 7.6716306350
MESH:D007333 Insulin Resistance Sodium Selenite 7.6714714311
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.5116580747
MESH:D007674 Kidney Diseases Acetaminophen 6.3715629191 12587719
MESH:D007674 Kidney Diseases Doxorubicin 6.3715699352 15369732 16775033
MESH:D007676 Kidney Failure, Chronic Doxorubicin 4.3316707910
MESH:D007680 Kidney Neoplasms 2,4-dinitrotoluene 7.8516705839
MESH:D007680 Kidney Neoplasms 2,6-dinitrotoluene 7.8516705839
MESH:D004915 Leukemia, Erythroblastic, Acute Doxorubicin 5.4216085563
MESH:D008106 Liver Cirrhosis, Experimental Doxorubicin 3.5316439617 16595196
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 3.5315474484
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 3.5312878042
MESH:D008107 Liver Diseases Acetaminophen 1.6619784758 16610002 12587719 16611625 11587558 12969438 19014921 19460945
MESH:D017114 Liver Failure, Acute Acetaminophen 3.4016871587 17185352
MESH:D008113 Liver Neoplasms 2,6-dinitrotoluene 7.667678174
MESH:D008113 Liver Neoplasms pirinixic acid 7.6615890375 16377806 20007298
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 7.6616984957
MESH:D008114 Liver Neoplasms, Experimental 2,6-dinitrotoluene 10.442876784 6135515 2876786
MESH:D008114 Liver Neoplasms, Experimental Doxorubicin 10.4416842330 17085340
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 10.4412151625
MESH:D008175 Lung Neoplasms Doxorubicin 2.446189445 17418594
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 2.4411884234 19555203
MESH:D008223 Lymphoma Doxorubicin 3.5816098063
MESH:D016393 Lymphoma, B-Cell Sodium Selenite 4.2414737004
MESH:D008228 Lymphoma, Non-Hodgkin Doxorubicin 3.9317654614
MESH:D016399 Lymphoma, T-Cell Doxorubicin 4.7815621674
MESH:D008325 Mammary Neoplasms, Experimental Doxorubicin 3.1315458769
MESH:D008545 Melanoma Doxorubicin 2.3116827129
MESH:D008546 Melanoma, Experimental Acetaminophen 3.7819513568
MESH:D008654 Mesothelioma Doxorubicin 3.1217638057
MESH:D028361 Mitochondrial Diseases Doxorubicin 4.6715792986
MESH:D052016 Mucositis Doxorubicin 5.0317415656
MESH:D009135 Muscular Diseases pirinixic acid 3.7216239165
MESH:D009203 Myocardial Infarction Doxorubicin 5.9215857846 19429709
MESH:D009203 Myocardial Infarction pirinixic acid 5.9219151258
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.1612213967
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.0816411023
MESH:D009336 Necrosis 2,4-dinitrotoluene 11.1518551238
MESH:D009336 Necrosis 2,6-dinitrotoluene 11.157678174 18551238
MESH:D009362 Neoplasm Metastasis Doxorubicin 3.0118259882
MESH:D009369 Neoplasms pirinixic acid 2.0217405874
MESH:D009401 Nephrosis Doxorubicin 4.9816899518 16636307
MESH:D009404 Nephrotic Syndrome Doxorubicin 4.1516889571 15640375
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.4114600291
MESH:D009447 Neuroblastoma Doxorubicin 3.3415555623
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.0118514411
MESH:D009765 Obesity pirinixic acid 1.8520558911
MESH:D009784 Occupational Diseases 2,4-dinitrotoluene 9.4316049721 12819281
MESH:D009784 Occupational Diseases 2,6-dinitrotoluene 9.4316049721
MESH:D010024 Osteoporosis Isoflavones 4.2016562857
MESH:D012516 Osteosarcoma Doxorubicin 4.2515930896
MESH:D010146 Pain Acetaminophen 2.5316870215
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.8711578682
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.5112520081
MESH:D003557 Phyllodes Tumor Doxorubicin 5.4217983394
MESH:D010997 Pleural Neoplasms Doxorubicin 5.4217638057
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.7618163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.4311896295 11222880 11118676 11399792
MESH:D011471 Prostatic Neoplasms Doxorubicin 2.7518437689 15749863 16729912 16888761 15897917 16868541
MESH:D011471 Prostatic Neoplasms Isoflavones 2.7516365062 17571952 17219775 17374662
MESH:D011471 Prostatic Neoplasms Sodium Selenite 2.7518760546
MESH:D011537 Pruritus Ethinyl Estradiol 3.5515861022 16919318
MESH:D051437 Renal Insufficiency Doxorubicin 4.4417922066
MESH:D015427 Reperfusion Injury pirinixic acid 2.4619058328
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.0418990726
MESH:D012509 Sarcoma Doxorubicin 4.1518313854 17203757 16767912 17710206 15675481 15625365
MESH:D012512 Sarcoma, Ewing's Doxorubicin 4.4416326096 14601052
MESH:D012514 Sarcoma, Kaposi Doxorubicin 5.0317846226
MESH:D012640 Seizures 2,4-dinitrotoluene 6.2518551238
MESH:D012640 Seizures 2,6-dinitrotoluene 6.2518551238
MESH:D012878 Skin Neoplasms Doxorubicin 5.9315692506
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 5.9316192470
MESH:D012983 Soft Tissue Neoplasms Doxorubicin 4.7815625365 17203757 16767912
MESH:D013088 Spermatocele Ethinyl Estradiol 4.2116709447
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.8011994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.3015669648
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.1712697716
MESH:D013964 Thyroid Neoplasms Doxorubicin 3.5016010429 17909728
MESH:D001749 Urinary Bladder Neoplasms 2,4-dinitrotoluene 8.7016049721
MESH:D001749 Urinary Bladder Neoplasms 2,6-dinitrotoluene 8.7016049721
MESH:D001749 Urinary Bladder Neoplasms Doxorubicin 8.7017653716
MESH:D014571 Urologic Neoplasms 2,4-dinitrotoluene 12.8010091137
MESH:D014571 Urologic Neoplasms 2,6-dinitrotoluene 12.8010091137
MESH:D014581 Urticaria Acetaminophen 3.1610982225
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.5014692618
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.8612125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.7115869587 14671159
MESH:D018487 Ventricular Dysfunction, Left Doxorubicin 4.4416364871 17638931 17678736 17334414
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.5115886252
Pathway ID Pathway Name
KEGG:04810 Regulation of actin cytoskeleton
REACT:14797 Signaling by GPCR
REACT:11061 Signalling by NGF
KEGG:04270 Vascular smooth muscle contraction
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA24966
    • No data
    No data
    Releated drug ID Related drug Name
    PA448478l-arginine
    PA450635nitric oxide
    Drug Bank Top

    Simple Query:


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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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