AutismKB 2.0

Annotation Detail for ARHGEF12


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:ARHGEF12 ( DKFZp686O2372,KIAA0382,LARG,PRO2792 )
Gene Full Name: Rho guanine nucleotide exchange factor (GEF) 12
Band: 11q23.3
Quick LinksEntrez ID:23365; OMIM: 604763; Uniprot ID:ARHGC_HUMAN; ENSEMBL ID: ENSG00000196914; HGNC ID: 14193
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04270Vascular smooth muscle contraction
hsa04360Axon guidance
hsa04810Regulation of actin cytoskeleton
Pathway IDPathway Name
Signaling by GPCR
Signalling by NGF
Axon guidance
Signaling by Rho GTPases
Pathway IDPathway Name
200050Regulation of RhoA activity
No data
Pathway IDPathway Name
500437G alpha (12/13) signalling events
Related Diseases/Disorders Top
No data
No data
Desease Name
glucose insulin
METABOLIC
No data
Desease Name
Leukemia, acute myeloid
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene affects the expression of ARHGEF12 mRNAaffects expression 21346803
D001151 Arsenic ARHGEF12 mRNA results in increased susceptibility to Arsenicincreases response to substance 17976673
D004997 Ethinyl Estradiol Ethinyl Estradiol results in increased expression of ARHGEF12 mRNAincreases expression 17942748
D004997 Ethinyl Estradiol [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of ARHGEF12 mRNAaffects cotreatment|increases expression 17942748
C065180 fluvastatin [zoledronic acid co-treated with fluvastatin] results in increased expression of ARHGEF12 mRNAaffects cotreatment|increases expression 16996129
D006830 Hydralazine [Hydralazine co-treated with Valproic Acid] results in increased expression of ARHGEF12 mRNAaffects cotreatment|increases expression 17183730
C051890 irinotecan irinotecan analog results in decreased expression of ARHGEF12 mRNAdecreases expression 18927307
D010656 Phenylephrine Phenylephrine results in decreased expression of ARHGEF12 mRNAdecreases expression 18158353
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in increased expression of ARHGEF12 mRNAaffects binding|increases activity|increases expression 19710929
C017947 sodium arsenite sodium arsenite results in decreased expression of ARHGEF12 mRNAdecreases expression 20308225
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of ARHGEF12 mRNAaffects cotreatment|increases expression 17942748
D014635 Valproic Acid [Hydralazine co-treated with Valproic Acid] results in increased expression of ARHGEF12 mRNAaffects cotreatment|increases expression 17183730
C088658 zoledronic acid [zoledronic acid co-treated with fluvastatin] results in increased expression of ARHGEF12 mRNAaffects cotreatment|increases expression 16996129
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 8.8314514962 11752688 15322242
MESH:D000014 Abnormalities, Drug-Induced Valproic Acid 8.838875741
MESH:D000015 Abnormalities, Multiple Valproic Acid 4.0419490988
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.1217505938
MESH:D058186 Acute Kidney Injury zoledronic acid 4.5719715164
MESH:D055371 Acute Lung Injury pirinixic acid 3.2318653653
MESH:D000210 Acute-Phase Reaction zoledronic acid 5.6420200999
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 1.8314692618
MESH:D018248 Adenoma, Liver Cell pirinixic acid 10.4216434500
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 10.4216835633
MESH:D000310 Adrenal Gland Neoplasms sodium arsenite 4.8715276417
MESH:D018246 Adrenocortical Adenoma Arsenic 14.3817306315
MESH:D018246 Adrenocortical Adenoma sodium arsenite 14.3816712894 17306315
MESH:D000550 Amblyopia Valproic Acid 5.4117688650
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.0511748828
MESH:D001008 Anxiety Disorders Valproic Acid 3.6617497229
MESH:D001145 Arrhythmias, Cardiac Phenylephrine 4.2117460149
MESH:D020261 Arsenic Poisoning Arsenic 2.8916835338 12569548 16251483 18414634
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.6011256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.7315885639
MESH:D050197 Atherosclerosis Arsenic 3.3112928151 19371607
MESH:D001321 Autistic Disorder Valproic Acid 2.0018985861 20603192 17507914 19460635 15238991 19232924 18558336 18396377 18775368 18940202 17688650 17157402 18177632 16609825 18316065
MESH:D001714 Bipolar Disorder Valproic Acid 3.1317594078 20046352
MESH:D001778 Blood Coagulation Disorders pirinixic acid 9.1419483382
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 9.1412125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 3.9615340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 8.2515746008
MESH:D001848 Bone Diseases, Developmental Valproic Acid 8.258888407
MESH:D001859 Bone Neoplasms zoledronic acid 5.0719442620 16778634 16121404 17312309 15867366 11697798
MESH:D001862 Bone Resorption zoledronic acid 4.8116769263 18496637 15845617 8053405 11869084 18404659
MESH:D001919 Bradycardia Phenylephrine 4.7015306635
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 2.3520435547
MESH:D001943 Breast Neoplasms zoledronic acid 2.3518695136 16096432
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.8916835633
MESH:D002280 Carcinoma, Basal Cell Arsenic 3.6517687452 15504454
MESH:D006528 Carcinoma, Hepatocellular 2,6-dinitrotoluene 4.7516705839
MESH:D006528 Carcinoma, Hepatocellular Arsenic 4.7516507464 17306315
MESH:D006528 Carcinoma, Hepatocellular sodium arsenite 4.7515276417 17306315 16507464
MESH:D002289 Carcinoma, Non-Small-Cell Lung zoledronic acid 3.5719233551
MESH:D002292 Carcinoma, Renal Cell zoledronic acid 3.9018507039
MESH:D002294 Carcinoma, Squamous Cell Arsenic 4.9315504454 18922899 17687452
MESH:D002294 Carcinoma, Squamous Cell sodium arsenite 4.9318572023
MESH:D002295 Carcinoma, Transitional Cell Arsenic 4.1818640142
MESH:D006332 Cardiomegaly Phenylephrine 7.0717124262 16170337 15728586 17287366 11754973 11179087
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 7.0718670907 18850075 16120746
MESH:D002318 Cardiovascular Diseases Arsenic 3.5219152805 15738583 17938729
MESH:D002340 Carotid Artery Diseases Arsenic 4.4118022660 16973168
MESH:D002471 Cell Transformation, Neoplastic 2,6-dinitrotoluene 6.996135515
MESH:D002471 Cell Transformation, Neoplastic sodium arsenite 6.9919524636 20056578
MESH:D002659 Child Development Disorders, Pervasive Valproic Acid 2.7420734317
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.2616835633
MESH:D002779 Cholestasis Ethinyl Estradiol 8.0117110522 16919318 15861022 16105132 11677210 17681005 17333356
MESH:D002779 Cholestasis pirinixic acid 8.0119176532
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.1415340226 12621046 8697196 15668235 16354765
MESH:D003110 Colonic Neoplasms irinotecan 2.6117287894 17725105
MESH:D015179 Colorectal Neoplasms irinotecan 2.3618509181 15273666 18259882 16391804 17159606 17454858 16303861
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.1614669216 17141729
MESH:D003327 Coronary Disease fluvastatin 4.8816142594
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 2.5020055451 15322242 10048152
MESH:D019465 Craniofacial Abnormalities Valproic Acid 2.5016575769 17688650 8888407
MESH:D003490 Cyanosis 2,6-dinitrotoluene 4.1618551238
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.4718249437
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.6917107852
MESH:D056486 Drug-Induced Liver Injury 2,6-dinitrotoluene 6.3721346803 18551238
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 6.3720420201
MESH:D056486 Drug-Induced Liver Injury Valproic Acid 6.371733752 19641884
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.8411462148
MESH:D004421 Dystonia Valproic Acid 4.171851702
MESH:D004487 Edema pirinixic acid 6.9012083418
MESH:D004487 Edema Tetrachlorodibenzodioxin 6.9011000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.0818230668 15322242 16714409
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 3.3112538720
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.129294722 10568697
MESH:D004831 Epilepsies, Myoclonic Valproic Acid 4.2917275665 3659116
MESH:D004828 Epilepsies, Partial Valproic Acid 4.093922381 16628512
MESH:D004827 Epilepsy Valproic Acid 2.9918234410 20417680
MESH:D004832 Epilepsy, Absence Valproic Acid 3.687562514 6254150 6426943
MESH:D017029 Epilepsy, Complex Partial Valproic Acid 4.447750514
MESH:D004830 Epilepsy, Tonic-Clonic Valproic Acid 4.223659116
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.0911564622
MESH:D005234 Fatty Liver Ethinyl Estradiol 13.7115345470
MESH:D005234 Fatty Liver pirinixic acid 13.7119236843 20131406
MESH:D005234 Fatty Liver Valproic Acid 13.7114986274 19224547
MESH:D005264 Femoral Fractures zoledronic acid 5.9816234978
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.5911858732
MESH:D005315 Fetal Diseases Valproic Acid 5.0616575769
MESH:D005317 Fetal Growth Retardation Valproic Acid 4.2618558336 8888407
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.0920067830
MESH:D005534 Foot Diseases Arsenic 5.736392382
MESH:D005833 Genital Neoplasms, Female sodium arsenite 4.8316452187
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.7710696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.3810048152 11294989
MESH:D006333 Heart Failure pirinixic acid 2.6020558911
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.4411000095
MESH:D006529 Hepatomegaly pirinixic acid 8.7319176532 18467677 16221962 19772884
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 8.7312621046 15340226 16120746
MESH:D006689 Hodgkin Disease sodium arsenite 3.2512676792
MESH:D006849 Hydrocephalus Valproic Acid 5.0217688650
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.228697196 16354765 15340226 18606429 16959395
MESH:D006930 Hyperalgesia zoledronic acid 4.3316769263
MESH:D006934 Hypercalcemia zoledronic acid 5.1619622757 18089816
MESH:D006943 Hyperglycemia pirinixic acid 3.2920558911
MESH:D017488 Hyperkeratosis, Epidermolytic Arsenic 4.5617050553
MESH:D006973 Hypertension Arsenic 8.9416076760 11953799 9931084
MESH:D006973 Hypertension Phenylephrine 8.9412717712 8949925
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 8.9418670907 18850075
MESH:D046110 Hypertension, Pregnancy-Induced Hydralazine 4.7616612254
MESH:D006984 Hypertrophy Phenylephrine 4.6618502941 12791704
MESH:D006987 Hypesthesia Arsenic 5.7316093927
MESH:D006996 Hypocalcemia zoledronic acid 6.3712669777
MESH:D007021 Hypospadias Ethinyl Estradiol 3.9516945680 16569931
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.5812013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 6.8817937319
MESH:D007248 Infertility, Male sodium arsenite 6.8812646999 15346721
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 1.9112200463 12878042
MESH:D007333 Insulin Resistance pirinixic acid 2.7016306350
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.4416580747
MESH:D007642 Keratosis Arsenic 5.1416930632 12749816
MESH:D007674 Kidney Diseases sodium arsenite 2.8620008137
MESH:D007680 Kidney Neoplasms 2,6-dinitrotoluene 3.0716705839
MESH:D015459 Leukemia-Lymphoma, Adult T-Cell zoledronic acid 4.8818089816
MESH:D015470 Leukemia, Myeloid, Acute marker/mechanism
MESH:D015470 Leukemia, Myeloid, Acute Valproic Acid 2.1717596541 16294345
MESH:D015473 Leukemia, Promyelocytic, Acute Arsenic 3.6217339181
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 2.1615474484
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 2.1612878042
MESH:D008107 Liver Diseases Arsenic 2.5611134558
MESH:D008113 Liver Neoplasms 2,6-dinitrotoluene 14.667678174
MESH:D008113 Liver Neoplasms Arsenic 14.6616368122
MESH:D008113 Liver Neoplasms pirinixic acid 14.6615890375 16377806 20007298
MESH:D008113 Liver Neoplasms sodium arsenite 14.6615276417 16712894
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 14.6616984957
MESH:D008114 Liver Neoplasms, Experimental 2,6-dinitrotoluene 5.956135515 2876786 2876784
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 5.9512151625
MESH:D008171 Lung Diseases sodium arsenite 3.2419095001
MESH:D017563 Lung Diseases, Interstitial Valproic Acid 4.4417228818
MESH:D008175 Lung Neoplasms Arsenic 3.5119168569 17976673 17306315
MESH:D008175 Lung Neoplasms sodium arsenite 3.5117077188 16712894 17306315 15276417 19931552
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 3.5119555203 11884234
MESH:D008325 Mammary Neoplasms, Experimental zoledronic acid 3.7917312309
MESH:D008545 Melanoma sodium arsenite 2.0419082730 16487513
MESH:D008654 Mesothelioma zoledronic acid 3.7916675582
MESH:D008881 Migraine Disorders Valproic Acid 3.2718803445 18765137
MESH:D052016 Mucositis irinotecan 5.1617159606
MESH:D009101 Multiple Myeloma fluvastatin 8.4316996129
MESH:D009101 Multiple Myeloma zoledronic acid 8.4318089719 19621390 16996129
MESH:D009135 Muscular Diseases pirinixic acid 3.6416239165
MESH:D009139 Musculoskeletal Abnormalities Valproic Acid 4.148888407
MESH:D009190 Myelodysplastic Syndromes Valproic Acid 3.2117596541
MESH:D009203 Myocardial Infarction pirinixic acid 2.1819151258
MESH:D017202 Myocardial Ischemia Arsenic 9.3015371236
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 9.3012213967
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.0316411023
MESH:D009336 Necrosis 2,6-dinitrotoluene 4.0118551238 7678174
MESH:D009362 Neoplasm Metastasis irinotecan 6.4918259882
MESH:D009362 Neoplasm Metastasis zoledronic acid 6.4915867366 17312309 19139120
MESH:D009369 Neoplasms pirinixic acid 5.1117405874
MESH:D009369 Neoplasms sodium arsenite 5.1111559025
MESH:D009374 Neoplasms, Experimental sodium arsenite 3.8020056578
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.3414600291
MESH:D009436 Neural Tube Defects Arsenic 12.6216620997
MESH:D009436 Neural Tube Defects sodium arsenite 12.6212854658
MESH:D009436 Neural Tube Defects Valproic Acid 12.628888407 16359493
MESH:D009447 Neuroblastoma irinotecan 3.538761367
MESH:D017599 Neuroectodermal Tumors irinotecan 4.888761367
MESH:D020078 Neurogenic Inflammation Arsenic 4.4917056641
MESH:D009765 Obesity pirinixic acid 1.8420558911
MESH:D009784 Occupational Diseases 2,6-dinitrotoluene 3.5316049721
MESH:D010014 Osteolysis zoledronic acid 5.5215867366
MESH:D010024 Osteoporosis zoledronic acid 4.1017882678
MESH:D010051 Ovarian Neoplasms Arsenic 5.1317306315
MESH:D010051 Ovarian Neoplasms sodium arsenite 5.1317306315 15276417
MESH:D010146 Pain zoledronic acid 4.0316475674
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.8011578682
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.4212520081
MESH:D010523 Peripheral Nervous System Diseases Arsenic 4.3016093927
MESH:D016491 Peripheral Vascular Diseases Arsenic 5.146392382 16905509 15371236
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.6918163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 9.9811399792 11118676 11222880 11896295
MESH:D011297 Prenatal Exposure Delayed Effects Valproic Acid 9.9820603192
MESH:D011471 Prostatic Neoplasms Arsenic 2.7516140617
MESH:D011471 Prostatic Neoplasms sodium arsenite 2.7516039940
MESH:D011471 Prostatic Neoplasms zoledronic acid 2.7512438248 19103299
MESH:D011507 Proteinuria Arsenic 4.1221343184
MESH:D011537 Pruritus Ethinyl Estradiol 3.4716919318 15861022
MESH:D019310 Pseudolymphoma Valproic Acid 4.7111422049 12752131
MESH:D015427 Reperfusion Injury pirinixic acid 2.4319058328
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 3.9618990726
MESH:D012208 Rhabdomyosarcoma Valproic Acid 4.2919155313
MESH:D012512 Sarcoma, Ewing's zoledronic acid 5.0616121404
MESH:D012559 Schizophrenia Valproic Acid 2.0815737665 19110320
MESH:D012640 Seizures 2,6-dinitrotoluene 6.1918551238
MESH:D012640 Seizures Valproic Acid 6.191511512 17978042 14763951 11738929 3137016 16876388 11044598 15475178
MESH:D012852 Sinusitis Phenylephrine 4.867327846
MESH:D012871 Skin Diseases Arsenic 2.7717938729 17548696 16353154 19834688 16759981 15952646 16702368 17050553 6392382 18709164 17453740
MESH:D012878 Skin Neoplasms Arsenic 9.7716251483 19538983 17050553 15504454 17976673 17029826
MESH:D012878 Skin Neoplasms sodium arsenite 9.7719524636 18572023
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 9.7716192470
MESH:D013088 Spermatocele Ethinyl Estradiol 4.1216709447
MESH:D016135 Spinal Dysraphism sodium arsenite 9.8312854658
MESH:D016135 Spinal Dysraphism Valproic Acid 9.8319490988
MESH:D013226 Status Epilepticus Valproic Acid 4.7112833885
MESH:D013274 Stomach Neoplasms irinotecan 2.3615723263
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.7411994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.2515669648
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.0812697716
MESH:D014178 Translocation, Genetic Valproic Acid 5.4117262798
MESH:D020194 Unverricht-Lundborg Syndrome Valproic Acid 4.673119515
MESH:D001749 Urinary Bladder Neoplasms 2,6-dinitrotoluene 8.6116049721
MESH:D001749 Urinary Bladder Neoplasms Arsenic 8.6119322015 19429237 15987713 18640142 17976673 17306315 11144890
MESH:D001749 Urinary Bladder Neoplasms sodium arsenite 8.6117306315 11723127 16712894 16452187
MESH:D014564 Urogenital Abnormalities Valproic Acid 4.788888407
MESH:D014571 Urologic Neoplasms 2,6-dinitrotoluene 4.4710091137
MESH:D002583 Uterine Cervical Neoplasms sodium arsenite 3.8711813266
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.4214692618
MESH:D014652 Vascular Diseases Arsenic 12.3717056641
MESH:D014652 Vascular Diseases sodium arsenite 12.3717056641
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.7712125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.6514671159 15869587
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.4215886252
Pathway ID Pathway Name
KEGG:04360 Axon guidance
REACT:18266 Axon guidance
KEGG:04810 Regulation of actin cytoskeleton
REACT:14797 Signaling by GPCR
REACT:11044 Signaling by Rho GTPases
REACT:11061 Signalling by NGF
KEGG:05152 Tuberculosis
KEGG:04270 Vascular smooth muscle contraction
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA24969
    • No data
    Releated disease ID Related disease Name
    PA446155Precursor Cell Lymphoblastic Leukemia-Lymphoma
    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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