AutismKB 2.0

Annotation Detail for RHBDL3


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Basic Information Top
Gene Symbol:RHBDL3 ( FLJ45582,MGC119300,MGC119301,RHBDL4,VRHO )
Gene Full Name: rhomboid, veinlet-like 3 (Drosophila)
Band: 17q11.2
Quick LinksEntrez ID:162494; OMIM: NA; Uniprot ID:RHBL3_HUMAN; ENSEMBL ID: ENSG00000141314; HGNC ID: 16502
Relate to Another Database: SFARIGene; denovo-db
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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 decreased expression of RHBDL3 mRNAdecreases expression 19933214
D000082 Acetaminophen Acetaminophen affects the expression of RHBDL3 mRNAaffects expression 17562736
C029424 hydrazine hydrazine results in decreased expression of RHBDL3 mRNAdecreases expression 15282401
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in decreased expression of RHBDL3 mRNAdecreases expression 19933214
19465110
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.4715322242 14514962 11752688
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 4.0116835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.3411748828
MESH:D000799 Angioedema Acetaminophen 4.5710982225
MESH:D001321 Autistic Disorder Acetaminophen 1.4018445737
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.4712125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.5115340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 3.0015746008
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.6720435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.1216835633
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 1.413084413
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.5618850075 18670907 16120746
MESH:D002386 Cataract Acetaminophen 2.7910977129
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.5316835633
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.2416354765 15340226 15668235 8697196 12621046
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.4317141729 14669216
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2720055451 10048152 15322242
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7417107852
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 3.8611287661 12540782 19923254 11529661 17522070 11739529 12958197 11743745 12594235 18713872 11421492 16393943 15968718 10663392 14986274 17562736 17906064 16781746 19085960 19420014 16227642 16485898 19164858 10774834 2444490 12705907 16109766 15619225 11834606 14550746 16177239 19370779 16081117 12153990 19739265 12392966 10915739 19416960 18071297 14725611 11461765
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 3.8620420201
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.8219426721
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 3.0511462148
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.8011000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.6216714409 15322242 18230668
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.429294722 10568697
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.3111564622
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 4.0211858732
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.5120067830
MESH:D005756 Gastritis Acetaminophen 4.4016983495
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.3210696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.5111294989 10048152
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.7611000095
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.4515340226 12621046 16120746
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.7715340226 18606429 16354765 16959395 8697196
MESH:D006930 Hyperalgesia Acetaminophen 3.0216870215
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 2.0218670907 18850075
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 2.0312878042 12200463
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.7616580747
MESH:D007674 Kidney Diseases Acetaminophen 2.4015629191 12587719
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 1.2512878042
MESH:D008107 Liver Diseases Acetaminophen 1.7016611625 19460945 12969438 16610002 19784758 19014921 11587558 12587719
MESH:D017114 Liver Failure, Acute Acetaminophen 3.6316871587 17185352
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 1.8316984957
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 2.3312151625
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 1.2419555203 11884234
MESH:D008546 Melanoma, Experimental Acetaminophen 4.1319513568
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.3412213967
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.7214600291
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.2118514411
MESH:D010146 Pain Acetaminophen 2.7316870215
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.9712520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 4.0718163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.8211118676 11896295 11222880 11399792
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.3518990726
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.2016192470
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.6212697716
MESH:D014581 Urticaria Acetaminophen 3.4410982225
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.3212125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.9715886252
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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