AutismKB 2.0

Annotation Detail for RGNEF


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Basic Information Top
Gene Symbol:RGNEF ( DKFZp686P12164,FLJ21817,KIAA1998,RIP2,p190RHOGEF )
Gene Full Name: -
Band: 5q13.2
Quick LinksEntrez ID:64283; OMIM: 612790; Uniprot ID:RGNEF_HUMAN; ENSEMBL ID: ENSG00000214944; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
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Pathway IDPathway Name
200192Signaling events mediated by focal adhesion kinase
200050Regulation of RhoA activity
No data
No data
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C548651 2-(1'H-indolo-3'-carbonyl)thiazole-4-carboxylic acid methyl ester 2-(1'H-indolo-3'-carbonyl)thiazole-4-carboxylic acid methyl ester results in increased expression of RGNEF mRNAincreases expression 19933214
C009505 4,4'-diaminodiphenylmethane 4,4'-diaminodiphenylmethane results in increased expression of RGNEF mRNAincreases expression 18648102
D015123 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in decreased expression of RGNEF mRNAdecreases expression 19150397
D002117 Calcitriol Calcitriol results in increased expression of RGNEF mRNAincreases expression 16002434
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of RGNEF mRNAincreases expression 19933214
C025643 vinclozolin vinclozolin affects the expression of RGNEF mRNAaffects expression 19015723
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.3114514962 15322242 11752688
MESH:D000236 Adenoma 4,4'-diaminodiphenylmethane 2.923712494
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.8416835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.2511748828
MESH:D001008 Anxiety Disorders vinclozolin 3.8919015723
MESH:D001660 Biliary Tract Diseases 4,4'-diaminodiphenylmethane 5.5411289319 1440618
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.3712125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.3115340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.9515746008
MESH:D001943 Breast Neoplasms Calcitriol 2.0811237771
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 2.0820435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.0516835633
MESH:D006528 Carcinoma, Hepatocellular 4,4'-diaminodiphenylmethane 1.777296757 3581430
MESH:D002292 Carcinoma, Renal Cell 4,4'-diaminodiphenylmethane 2.807296757
MESH:D002294 Carcinoma, Squamous Cell Calcitriol 2.6911237771
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.5216120746 18670907 18850075
MESH:D002471 Cell Transformation, Neoplastic 4,4'-diaminodiphenylmethane 7.347505956
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 7.3420889678
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.4516835633
MESH:D002779 Cholestasis 4,4'-diaminodiphenylmethane 3.389022650 19486331
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.2116354765 12621046 15668235 15340226 8697196
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.3417141729 14669216
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2620055451 10048152 15322242
MESH:D003456 Cryptorchidism vinclozolin 4.7214966744
MESH:D017449 Dermatitis, Allergic Contact 4,4'-diaminodiphenylmethane 3.2111298694 12868966 14531868 8156756 8970840 2524372 11906362 18759878
MESH:D003877 Dermatitis, Contact 4,4'-diaminodiphenylmethane 3.842952479 3621924
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7217107852
MESH:D056486 Drug-Induced Liver Injury 4,4'-diaminodiphenylmethane 3.949653073 7440962 8291058 9328219 18648102 1440618 18692083 18289764 6482804 16192314 9022650 11289319 6679447
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 3.9420420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.9911462148
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.7011000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.4218230668 15322242 16714409
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Calcitriol 4.3115138306
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.339294722 10568697
MESH:D004938 Esophageal Neoplasms 4,4'-diaminodiphenylmethane 4.603581430
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 4.6020426865
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.2411564622
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.8711858732
MESH:D005350 Fibroma 4,4'-diaminodiphenylmethane 5.546705139
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.3620067830
MESH:D030342 Genetic Diseases, Inborn vinclozolin 5.4016973722
MESH:D005832 Genital Diseases, Male vinclozolin 5.8216417039
MESH:D006042 Goiter 4,4'-diaminodiphenylmethane 4.397505956
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.1210696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.4710048152 11294989
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.6611000095
MESH:D006505 Hepatitis 4,4'-diaminodiphenylmethane 3.896705139
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.3115340226 16120746 12621046
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.5715340226 16959395 8697196 16354765 18606429
MESH:D006965 Hyperplasia 4,4'-diaminodiphenylmethane 4.3615034207
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 2.0018850075 18670907
MESH:D007248 Infertility, Male vinclozolin 3.2416467254
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 1.9912200463 12878042
MESH:D007565 Jaundice 4,4'-diaminodiphenylmethane 5.548074119 9022650
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.6616580747
MESH:D007680 Kidney Neoplasms 4,4'-diaminodiphenylmethane 3.236582329
MESH:D007984 Leydig Cell Tumor vinclozolin 5.1916417039
MESH:D008105 Liver Cirrhosis, Biliary 4,4'-diaminodiphenylmethane 3.389327722 15034207
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 1.2512878042
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 1.8116984957
MESH:D008114 Liver Neoplasms, Experimental 4,4'-diaminodiphenylmethane 6.346587162 3712494 1399818 598648
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 6.3412151625
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 1.2411884234 19555203
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.2712213967
MESH:D009362 Neoplasm Metastasis 4,4'-diaminodiphenylmethane 2.573581430
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.5914600291
MESH:D009436 Neural Tube Defects 4,4'-diaminodiphenylmethane 3.106679447
MESH:D009784 Occupational Diseases 4,4'-diaminodiphenylmethane 3.724026338 6482804
MESH:D009902 Optic Neuritis 4,4'-diaminodiphenylmethane 5.543988306
MESH:D010212 Papilloma 4,4'-diaminodiphenylmethane 3.907296757
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.7712520081
MESH:D010787 Photosensitivity Disorders 4,4'-diaminodiphenylmethane 4.996228378
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.9418163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 11.0811222880 11118676 11896295 11399792
MESH:D011297 Prenatal Exposure Delayed Effects vinclozolin 11.0819015723 18220299 18042343
MESH:D011469 Prostatic Diseases vinclozolin 5.4018220299
MESH:D011470 Prostatic Hyperplasia Calcitriol 5.2415572423
MESH:D011471 Prostatic Neoplasms Calcitriol 3.4916289102 18247401 12479363 16644109 15754350
MESH:D011472 Prostatitis vinclozolin 5.4018629315
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.2218990726
MESH:D012162 Retinal Degeneration 4,4'-diaminodiphenylmethane 3.613692021
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.1716192470
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.4212697716
MESH:D013964 Thyroid Neoplasms 4,4'-diaminodiphenylmethane 3.127505956 1399818 6582329 3712494 6587162
MESH:D001749 Urinary Bladder Neoplasms 4,4'-diaminodiphenylmethane 2.378074119
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.1212125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.7715886252
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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