AutismKB 2.0

Annotation Detail for RFX1


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Basic Information Top
Gene Symbol:RFX1 ( EFC,RFX )
Gene Full Name: regulatory factor X, 1 (influences HLA class II expression)
Band: 19p13.12
Quick LinksEntrez ID:5989; OMIM: 600006; Uniprot ID:RFX1_HUMAN; ENSEMBL ID: ENSG00000132005; HGNC ID: 9982
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1712Yersinia infection
1860Brain tumor
No data
No data
No data
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C009505 4,4'-diaminodiphenylmethane 4,4'-diaminodiphenylmethane results in increased expression of RFX1 mRNAincreases expression 18648102
D000082 Acetaminophen Acetaminophen affects the expression of RFX1 mRNAaffects expression 17562736
D006830 Hydralazine [Hydralazine co-treated with Valproic Acid] results in increased expression of RFX1 mRNAaffects cotreatment|increases expression 17183730
D014635 Valproic Acid [Hydralazine co-treated with Valproic Acid] results in increased expression of RFX1 mRNAaffects cotreatment|increases expression 17183730
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Valproic Acid 4.118875741
MESH:D000015 Abnormalities, Multiple Valproic Acid 4.3519490988
MESH:D000236 Adenoma 4,4'-diaminodiphenylmethane 2.963712494
MESH:D000550 Amblyopia Valproic Acid 5.9617688650
MESH:D000799 Angioedema Acetaminophen 4.5710982225
MESH:D001008 Anxiety Disorders Valproic Acid 3.9017497229
MESH:D001321 Autistic Disorder Acetaminophen 1.8618445737
MESH:D001321 Autistic Disorder Valproic Acid 1.8617507914 20603192 18985861 18940202 17688650 18558336 18316065 18775368 18396377 15238991 17157402 16609825 19232924 19460635 18177632
MESH:D001660 Biliary Tract Diseases 4,4'-diaminodiphenylmethane 5.741440618 11289319
MESH:D001714 Bipolar Disorder Valproic Acid 3.2417594078 20046352
MESH:D001848 Bone Diseases, Developmental Valproic Acid 3.638888407
MESH:D006528 Carcinoma, Hepatocellular 4,4'-diaminodiphenylmethane 2.967296757 3581430
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 2.963084413
MESH:D002292 Carcinoma, Renal Cell 4,4'-diaminodiphenylmethane 2.837296757
MESH:D002386 Cataract Acetaminophen 2.7910977129
MESH:D002471 Cell Transformation, Neoplastic 4,4'-diaminodiphenylmethane 3.027505956
MESH:D002659 Child Development Disorders, Pervasive Valproic Acid 2.8220734317
MESH:D002779 Cholestasis 4,4'-diaminodiphenylmethane 3.449022650 19486331
MESH:D019465 Craniofacial Abnormalities Valproic Acid 1.9117688650 8888407 16575769
MESH:D017449 Dermatitis, Allergic Contact 4,4'-diaminodiphenylmethane 3.352524372 11298694 12868966 18759878 8156756 8970840 14531868 11906362
MESH:D003877 Dermatitis, Contact 4,4'-diaminodiphenylmethane 3.952952479 3621924
MESH:D056486 Drug-Induced Liver Injury 4,4'-diaminodiphenylmethane 6.759328219 1440618 18289764 8291058 6679447 11289319 7440962 9653073 9022650 16192314 18648102 18692083 6482804
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 6.7517562736 19085960 11287661 12705907 10915739 15968718 15619225 19416960 19370779 11461765 11529661 10774834 2444490 17522070 12153990 12392966 19739265 16081117 16393943 16227642 18713872 11834606 17906064 16177239 16781746 11421492 10663392 14986274 12594235 16109766 11739529 18071297 19923254 12958197 11743745 19420014 14725611 19164858 16485898 12540782 14550746
MESH:D056486 Drug-Induced Liver Injury Valproic Acid 6.751733752 19641884
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.8219426721
MESH:D004421 Dystonia Valproic Acid 4.511851702
MESH:D004831 Epilepsies, Myoclonic Valproic Acid 4.7117275665 3659116
MESH:D004828 Epilepsies, Partial Valproic Acid 4.643922381 16628512
MESH:D004827 Epilepsy Valproic Acid 3.1120417680 18234410
MESH:D004832 Epilepsy, Absence Valproic Acid 3.966254150 7562514 6426943
MESH:D017029 Epilepsy, Complex Partial Valproic Acid 4.867750514
MESH:D004830 Epilepsy, Tonic-Clonic Valproic Acid 4.693659116
MESH:D004938 Esophageal Neoplasms 4,4'-diaminodiphenylmethane 2.183581430
MESH:D005234 Fatty Liver Valproic Acid 3.7219224547 14986274
MESH:D005315 Fetal Diseases Valproic Acid 5.6116575769
MESH:D005317 Fetal Growth Retardation Valproic Acid 4.648888407 18558336
MESH:D005350 Fibroma 4,4'-diaminodiphenylmethane 5.746705139
MESH:D005756 Gastritis Acetaminophen 4.4016983495
MESH:D006042 Goiter 4,4'-diaminodiphenylmethane 4.507505956
MESH:D006505 Hepatitis 4,4'-diaminodiphenylmethane 4.026705139
MESH:D006849 Hydrocephalus Valproic Acid 5.5017688650
MESH:D006930 Hyperalgesia Acetaminophen 3.0216870215
MESH:D006965 Hyperplasia 4,4'-diaminodiphenylmethane 4.5015034207
MESH:D046110 Hypertension, Pregnancy-Induced Hydralazine 5.1916612254
MESH:D007565 Jaundice 4,4'-diaminodiphenylmethane 5.748074119 9022650
MESH:D007674 Kidney Diseases Acetaminophen 2.4012587719 15629191
MESH:D007680 Kidney Neoplasms 4,4'-diaminodiphenylmethane 3.316582329
MESH:D015470 Leukemia, Myeloid, Acute Valproic Acid 2.2017596541 16294345
MESH:D008105 Liver Cirrhosis, Biliary 4,4'-diaminodiphenylmethane 3.4215034207 9327722
MESH:D008107 Liver Diseases Acetaminophen 1.7019014921 11587558 19460945 12587719 12969438 19784758 16610002 16611625
MESH:D017114 Liver Failure, Acute Acetaminophen 3.6317185352 16871587
MESH:D008114 Liver Neoplasms, Experimental 4,4'-diaminodiphenylmethane 2.756587162 3712494 1399818 598648
MESH:D017563 Lung Diseases, Interstitial Valproic Acid 4.9817228818
MESH:D008546 Melanoma, Experimental Acetaminophen 4.1319513568
MESH:D008881 Migraine Disorders Valproic Acid 3.4718765137 18803445
MESH:D009139 Musculoskeletal Abnormalities Valproic Acid 4.458888407
MESH:D009190 Myelodysplastic Syndromes Valproic Acid 3.3517596541
MESH:D009362 Neoplasm Metastasis 4,4'-diaminodiphenylmethane 2.593581430
MESH:D009436 Neural Tube Defects 4,4'-diaminodiphenylmethane 8.076679447
MESH:D009436 Neural Tube Defects Valproic Acid 8.0716359493 8888407
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.2118514411
MESH:D009784 Occupational Diseases 4,4'-diaminodiphenylmethane 3.816482804 4026338
MESH:D009902 Optic Neuritis 4,4'-diaminodiphenylmethane 5.743988306
MESH:D010146 Pain Acetaminophen 2.7316870215
MESH:D010212 Papilloma 4,4'-diaminodiphenylmethane 4.047296757
MESH:D010787 Photosensitivity Disorders 4,4'-diaminodiphenylmethane 5.196228378
MESH:D011297 Prenatal Exposure Delayed Effects Valproic Acid 4.4620603192
MESH:D019310 Pseudolymphoma Valproic Acid 5.2611422049 12752131
MESH:D012162 Retinal Degeneration 4,4'-diaminodiphenylmethane 3.673692021
MESH:D012208 Rhabdomyosarcoma Valproic Acid 4.6419155313
MESH:D012559 Schizophrenia Valproic Acid 2.1015737665 19110320
MESH:D012640 Seizures Valproic Acid 2.993137016 15475178 11738929 16876388 14763951 1511512 17978042 11044598
MESH:D016135 Spinal Dysraphism Valproic Acid 4.0919490988
MESH:D013226 Status Epilepticus Valproic Acid 5.2612833885
MESH:D013964 Thyroid Neoplasms 4,4'-diaminodiphenylmethane 3.191399818 3712494 6582329 6587162 7505956
MESH:D014178 Translocation, Genetic Valproic Acid 5.9617262798
MESH:D020194 Unverricht-Lundborg Syndrome Valproic Acid 5.153119515
MESH:D001749 Urinary Bladder Neoplasms 4,4'-diaminodiphenylmethane 2.408074119
MESH:D014564 Urogenital Abnormalities Valproic Acid 5.208888407
MESH:D014581 Urticaria Acetaminophen 3.4410982225
No data
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Syndromic Genes

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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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