AutismKB 2.0

Annotation Detail for RABGEF1


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Basic Information Top
Gene Symbol:RABGEF1 ( FLJ32302,RABEX5,rabex-5 )
Gene Full Name: RAB guanine nucleotide exchange factor (GEF) 1
Band: 7q11.21
Quick LinksEntrez ID:27342; OMIM: 609700; Uniprot ID:RABX5_HUMAN; ENSEMBL ID: ENSG00000154710,ENSG00000243335; HGNC ID: 17676
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C009505 4,4'-diaminodiphenylmethane 4,4'-diaminodiphenylmethane affects the expression of RABGEF1 mRNAaffects expression 18648102
D000082 Acetaminophen Acetaminophen affects the expression of RABGEF1 mRNAaffects expression 17562736
D016572 Cyclosporine Cyclosporine results in increased expression of RABGEF1 mRNAincreases expression 20106945
D006830 Hydralazine [Hydralazine co-treated with Valproic Acid] results in increased expression of RABGEF1 mRNAaffects cotreatment|increases expression 17183730
C006253 pirinixic acid pirinixic acid results in increased expression of RABGEF1 mRNAincreases expression 17426115
18301758
18445702
D014635 Valproic Acid [Hydralazine co-treated with Valproic Acid] results in increased expression of RABGEF1 mRNAaffects cotreatment|increases expression 17183730
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Valproic Acid 3.958875741
MESH:D000015 Abnormalities, Multiple Valproic Acid 4.2519490988
MESH:D055371 Acute Lung Injury pirinixic acid 3.4718653653
MESH:D000236 Adenoma 4,4'-diaminodiphenylmethane 2.923712494
MESH:D018248 Adenoma, Liver Cell pirinixic acid 3.9416434500
MESH:D000550 Amblyopia Valproic Acid 5.7517688650
MESH:D000799 Angioedema Acetaminophen 4.3610982225
MESH:D001008 Anxiety Disorders Valproic Acid 3.8317497229
MESH:D001321 Autistic Disorder Acetaminophen 1.8618445737
MESH:D001321 Autistic Disorder Valproic Acid 1.8618316065 18940202 20603192 17688650 17507914 16609825 15238991 18558336 18775368 19232924 18177632 18396377 18985861 19460635 17157402
MESH:D001660 Biliary Tract Diseases 4,4'-diaminodiphenylmethane 5.541440618 11289319
MESH:D001714 Bipolar Disorder Valproic Acid 3.2120046352 17594078
MESH:D001778 Blood Coagulation Disorders pirinixic acid 3.4719483382
MESH:D001848 Bone Diseases, Developmental Valproic Acid 3.598888407
MESH:D006528 Carcinoma, Hepatocellular 4,4'-diaminodiphenylmethane 2.933581430 7296757
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 2.933084413
MESH:D002292 Carcinoma, Renal Cell 4,4'-diaminodiphenylmethane 2.807296757
MESH:D002386 Cataract Acetaminophen 2.7510977129
MESH:D002471 Cell Transformation, Neoplastic 4,4'-diaminodiphenylmethane 7.277505956
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 7.2712371664
MESH:D002659 Child Development Disorders, Pervasive Valproic Acid 2.8020734317
MESH:D002779 Cholestasis 4,4'-diaminodiphenylmethane 14.759022650 19486331
MESH:D002779 Cholestasis Cyclosporine 14.7519486331
MESH:D002779 Cholestasis pirinixic acid 14.7519176532
MESH:D019465 Craniofacial Abnormalities Valproic Acid 1.9016575769 17688650 8888407
MESH:D017449 Dermatitis, Allergic Contact 4,4'-diaminodiphenylmethane 3.2112868966 11298694 8156756 14531868 18759878 8970840 2524372 11906362
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5518249437
MESH:D003877 Dermatitis, Contact 4,4'-diaminodiphenylmethane 3.843621924 2952479
MESH:D056486 Drug-Induced Liver Injury 4,4'-diaminodiphenylmethane 6.6518648102 1440618 9653073 16192314 6679447 7440962 9328219 18289764 6482804 11289319 8291058 18692083 9022650
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 6.6511743745 19739265 12594235 11421492 11739529 17522070 10663392 16081117 16485898 12958197 12705907 15968718 16781746 14986274 19416960 16109766 16393943 19085960 18071297 19420014 19164858 11287661 12153990 15619225 14725611 11834606 2444490 10774834 11529661 10915739 19923254 17906064 12540782 16227642 14550746 16177239 11461765 12392966 18713872 19370779 17562736
MESH:D056486 Drug-Induced Liver Injury Valproic Acid 6.6519641884 1733752
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.6219426721
MESH:D004421 Dystonia Valproic Acid 4.401851702
MESH:D004487 Edema pirinixic acid 2.8012083418
MESH:D004831 Epilepsies, Myoclonic Valproic Acid 4.573659116 17275665
MESH:D004828 Epilepsies, Partial Valproic Acid 4.443922381 16628512
MESH:D004827 Epilepsy Valproic Acid 3.0720417680 18234410
MESH:D004832 Epilepsy, Absence Valproic Acid 3.876254150 7562514 6426943
MESH:D017029 Epilepsy, Complex Partial Valproic Acid 4.717750514
MESH:D004830 Epilepsy, Tonic-Clonic Valproic Acid 4.533659116
MESH:D004938 Esophageal Neoplasms 4,4'-diaminodiphenylmethane 2.173581430
MESH:D005234 Fatty Liver Cyclosporine 15.0319224547
MESH:D005234 Fatty Liver pirinixic acid 15.0319236843 20131406
MESH:D005234 Fatty Liver Valproic Acid 15.0319224547 14986274
MESH:D005315 Fetal Diseases Valproic Acid 5.4116575769
MESH:D005317 Fetal Growth Retardation Valproic Acid 4.518888407 18558336
MESH:D005350 Fibroma 4,4'-diaminodiphenylmethane 5.546705139
MESH:D005355 Fibrosis Cyclosporine 3.5612639820 12168785
MESH:D005756 Gastritis Acetaminophen 4.1916983495
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.688708960
MESH:D006042 Goiter 4,4'-diaminodiphenylmethane 4.397505956
MESH:D006333 Heart Failure pirinixic acid 2.7120558911
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.8815720958
MESH:D006505 Hepatitis 4,4'-diaminodiphenylmethane 3.896705139
MESH:D006529 Hepatomegaly pirinixic acid 3.4116221962 19772884 18467677 19176532
MESH:D006849 Hydrocephalus Valproic Acid 5.3317688650
MESH:D006930 Hyperalgesia Acetaminophen 2.9516870215
MESH:D006943 Hyperglycemia pirinixic acid 3.4920558911
MESH:D006965 Hyperplasia 4,4'-diaminodiphenylmethane 4.3615034207
MESH:D006973 Hypertension Cyclosporine 2.1910903974
MESH:D046110 Hypertension, Pregnancy-Induced Hydralazine 5.0416612254
MESH:D007333 Insulin Resistance pirinixic acid 2.8216306350
MESH:D007565 Jaundice 4,4'-diaminodiphenylmethane 5.548074119 9022650
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.9615604871
MESH:D007674 Kidney Diseases Acetaminophen 6.3412587719 15629191
MESH:D007674 Kidney Diseases Cyclosporine 6.348314463 10903974 18776723
MESH:D007680 Kidney Neoplasms 4,4'-diaminodiphenylmethane 8.176582329
MESH:D007680 Kidney Neoplasms Cyclosporine 8.1712371664
MESH:D015470 Leukemia, Myeloid, Acute Valproic Acid 2.1916294345 17596541
MESH:D008105 Liver Cirrhosis, Biliary 4,4'-diaminodiphenylmethane 3.389327722 15034207
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 1.3515474484
MESH:D008107 Liver Diseases Acetaminophen 1.6919014921 19784758 16611625 12969438 12587719 19460945 11587558 16610002
MESH:D017114 Liver Failure, Acute Acetaminophen 3.5417185352 16871587
MESH:D008113 Liver Neoplasms pirinixic acid 1.9116377806 20007298 15890375
MESH:D008114 Liver Neoplasms, Experimental 4,4'-diaminodiphenylmethane 2.716587162 1399818 3712494 598648
MESH:D017563 Lung Diseases, Interstitial Valproic Acid 4.7817228818
MESH:D008546 Melanoma, Experimental Acetaminophen 3.9819513568
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.3116801185
MESH:D008881 Migraine Disorders Valproic Acid 3.4118765137 18803445
MESH:D009135 Muscular Diseases pirinixic acid 3.9216239165
MESH:D009139 Musculoskeletal Abnormalities Valproic Acid 4.358888407
MESH:D009190 Myelodysplastic Syndromes Valproic Acid 3.3117596541
MESH:D009203 Myocardial Infarction pirinixic acid 2.2519151258
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.1916411023
MESH:D009362 Neoplasm Metastasis 4,4'-diaminodiphenylmethane 2.573581430
MESH:D009369 Neoplasms pirinixic acid 2.0817405874
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.9617954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.5719348381 18481113
MESH:D009436 Neural Tube Defects 4,4'-diaminodiphenylmethane 7.906679447
MESH:D009436 Neural Tube Defects Valproic Acid 7.9016359493 8888407
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.1418514411
MESH:D009765 Obesity pirinixic acid 1.8720558911
MESH:D009784 Occupational Diseases 4,4'-diaminodiphenylmethane 3.726482804 4026338
MESH:D009902 Optic Neuritis 4,4'-diaminodiphenylmethane 5.543988306
MESH:D010146 Pain Acetaminophen 2.6516870215
MESH:D010212 Papilloma 4,4'-diaminodiphenylmethane 3.907296757
MESH:D010787 Photosensitivity Disorders 4,4'-diaminodiphenylmethane 4.996228378
MESH:D011230 Precancerous Conditions Cyclosporine 3.5112371664
MESH:D011297 Prenatal Exposure Delayed Effects Valproic Acid 4.2920603192
MESH:D019310 Pseudolymphoma Valproic Acid 5.0612752131 11422049
MESH:D011565 Psoriasis Cyclosporine 2.3116882103
MESH:D015427 Reperfusion Injury pirinixic acid 2.5219058328
MESH:D012162 Retinal Degeneration 4,4'-diaminodiphenylmethane 3.613692021
MESH:D012208 Rhabdomyosarcoma Valproic Acid 4.5319155313
MESH:D012559 Schizophrenia Valproic Acid 2.1015737665 19110320
MESH:D012640 Seizures Valproic Acid 2.9411738929 15475178 16876388 3137016 17978042 11044598 14763951 1511512
MESH:D016135 Spinal Dysraphism Valproic Acid 4.0219490988
MESH:D013226 Status Epilepticus Valproic Acid 5.0612833885
MESH:D013964 Thyroid Neoplasms 4,4'-diaminodiphenylmethane 3.121399818 6582329 6587162 7505956 3712494
MESH:D014178 Translocation, Genetic Valproic Acid 5.7517262798
MESH:D020194 Unverricht-Lundborg Syndrome Valproic Acid 4.983119515
MESH:D001749 Urinary Bladder Neoplasms 4,4'-diaminodiphenylmethane 2.378074119
MESH:D014564 Urogenital Abnormalities Valproic Acid 5.068888407
MESH:D014581 Urticaria Acetaminophen 3.3310982225
MESH:D014605 Uveitis Cyclosporine 4.501336536
MESH:D014985 Xerophthalmia Cyclosporine 4.9617120751
No data
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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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