AutismKB 2.0

Annotation Detail for RFX2


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Basic Information Top
Gene Symbol:RFX2 ( FLJ14226 )
Gene Full Name: regulatory factor X, 2 (influences HLA class II expression)
Band: 19p13.3
Quick LinksEntrez ID:5990; OMIM: 142765; Uniprot ID:RFX2_HUMAN; ENSEMBL ID: ENSG00000087903; HGNC ID: 9983
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
D016572 Cyclosporine Cyclosporine results in increased expression of RFX2 mRNAincreases expression 20106945
D013629 Tamoxifen Tamoxifen results in increased expression of RFX2 mRNAincreases expression 17555576
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of RFX2 mRNAincreases expression 18495758
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000008 Abdominal Neoplasms Tamoxifen 5.4114745880
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.5915322242 14514962 11752688
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 4.1216835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.3911748828
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.5312125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.6615340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 3.0215746008
MESH:D001943 Breast Neoplasms Tamoxifen 1.9217261762 11161223 19011961 19103187 19066611 19289846 20065188 18351453 17440819 19244106 20859285 18984771 20390343 19189210 16273361 19142967 19487384 16818667 19084267 19115204 19200415 18815881 17242785 17893378 19288272 18855134 19059307 15668708 21138602 16202921 17049068 20135344 18997820 15565566 19410462 19221464 18821012 18425577 21152245 18629630 16873071 19189212 20544844 19155303 20005174
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.9220435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.1616835633
MESH:D018270 Carcinoma, Ductal, Breast Tamoxifen 5.1619066611
MESH:D006528 Carcinoma, Hepatocellular Tamoxifen 1.8616924424
MESH:D002295 Carcinoma, Transitional Cell Tamoxifen 4.0617572228
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.5816120746 18850075 18670907
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 2.8212371664
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.5816835633
MESH:D002779 Cholestasis Cyclosporine 3.2419486331
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.2515340226 8697196 15668235 16354765 12621046
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.4814669216 17141729
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2715322242 10048152 20055451
MESH:D003711 Demyelinating Diseases Tamoxifen 5.0219031437
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7417107852
MESH:D003928 Diabetic Nephropathies Tamoxifen 3.8919279558
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 1.6220420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 3.0911462148
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.8511000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.7716714409 15322242 18230668
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Tamoxifen 4.1219031437
MESH:D016889 Endometrial Neoplasms Tamoxifen 3.3120544844 17893378 19155303 16202921
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.4710568697 9294722
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.3411564622
MESH:D005234 Fatty Liver Cyclosporine 9.3619224547
MESH:D005234 Fatty Liver Tamoxifen 9.3614986274 19224547
MESH:D052776 Female Urogenital Diseases Tamoxifen 3.4716709447
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 4.1111858732
MESH:D018221 Fibromatosis, Abdominal Tamoxifen 5.2714745880
MESH:D018222 Fibromatosis, Aggressive Tamoxifen 4.9219069698
MESH:D005355 Fibrosis Cyclosporine 10.7512639820 12168785
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 10.7520067830
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.968708960
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.4610696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.5311294989 10048152
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 5.1615720958
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.8211000095
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.5412621046 15340226 16120746
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.9116959395 16354765 15340226 18606429 8697196
MESH:D006973 Hypertension Cyclosporine 5.3910903974
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 5.3918850075 18670907
MESH:D007249 Inflammation Tamoxifen 5.5519457130
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 5.5512200463 12878042
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.8216580747
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 5.3115604871
MESH:D007674 Kidney Diseases Cyclosporine 2.5618776723 10903974 8314463
MESH:D007680 Kidney Neoplasms Cyclosporine 8.6112371664
MESH:D007680 Kidney Neoplasms Tamoxifen 8.6118625569
MESH:D008064 Lipidoses Tamoxifen 3.4617567588 15342952
MESH:D008106 Liver Cirrhosis, Experimental Tamoxifen 2.3818564211
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 2.3812878042
MESH:D008113 Liver Neoplasms Tamoxifen 4.8416684651
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 4.8416984957
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 2.3512151625
MESH:D008175 Lung Neoplasms Tamoxifen 2.3418625569
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 2.3411884234 19555203
MESH:D015674 Mammary Neoplasms, Animal Tamoxifen 4.5019428831
MESH:D008325 Mammary Neoplasms, Experimental Tamoxifen 2.8819196723 19196722 11731420 14580682 16827153
MESH:D020149 Manganese Poisoning Tamoxifen 5.4119453300
MESH:D008545 Melanoma Tamoxifen 1.9219393235 12393984
MESH:D018328 Melanoma, Amelanotic Tamoxifen 4.9215990972
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.6516801185
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.3812213967
MESH:D009362 Neoplasm Metastasis Tamoxifen 2.6819393235
MESH:D009364 Neoplasm Recurrence, Local Tamoxifen 2.6219410462
MESH:D009376 Neoplasms, Hormone-Dependent Tamoxifen 4.8719189210 19200415 19196722
MESH:D009402 Nephrosis, Lipoid Cyclosporine 5.3117954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.7019348381 18481113
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.8014600291
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 5.1212520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 4.1418163543
MESH:D011230 Precancerous Conditions Cyclosporine 3.6412371664
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.9311222880 11399792 11118676 11896295
MESH:D011471 Prostatic Neoplasms Tamoxifen 3.0815067354
MESH:D011565 Psoriasis Cyclosporine 2.3416882103
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.4218990726
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.2116192470
MESH:D013088 Spermatocele Tamoxifen 5.1616709447
MESH:D013119 Spinal Cord Injuries Tamoxifen 4.7819457130
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.7712697716
MESH:D001749 Urinary Bladder Neoplasms Tamoxifen 2.498653321 16712894 17572228
MESH:D014605 Uveitis Cyclosporine 4.851336536
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.4612125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 5.1215886252
MESH:D014985 Xerophthalmia Cyclosporine 5.3117120751
No data
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA34353
    • No data
    Releated disease ID Related disease Name
    PA443560Breast Neoplasms
    No data
    Drug Bank Top

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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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