AutismKB 2.0

Annotation Detail for RHBDF2


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Basic Information Top
Gene Symbol:RHBDF2 ( FLJ22341,RHBDL5,RHBDL6 )
Gene Full Name: rhomboid 5 homolog 2 (Drosophila)
Band: 17q25.3
Quick LinksEntrez ID:79651; OMIM: NA; Uniprot ID:RHDF2_HUMAN; ENSEMBL ID: ENSG00000129667; HGNC ID: 20788
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
D000082 Acetaminophen Acetaminophen affects the expression of RHBDF2 mRNAaffects expression 17562736
D016604 Aflatoxin B1 Aflatoxin B1 affects the expression of RHBDF2 proteinaffects expression 20106945
D001564 Benzo(a)pyrene Benzo(a)pyrene results in increased expression of RHBDF2 mRNAincreases expression 20106945
D016572 Cyclosporine Cyclosporine results in increased expression of RHBDF2 mRNAincreases expression 20106945
D004041 Dietary Fats Dietary Fats results in decreased expression of RHBDF2 mRNAdecreases expression 18042831
D004958 Estradiol Estradiol results in increased expression of RHBDF2 mRNAincreases expression 20106945
C041786 palm oil palm oil results in decreased expression of RHBDF2 mRNAdecreases expression 18042831
D010634 Phenobarbital NR1I3 protein affects the reaction [Phenobarbital results in increased expression of RHBDF2 mRNA]affects reaction|increases expression 19482888
D010634 Phenobarbital Phenobarbital results in increased expression of RHBDF2 mRNAincreases expression 19482888
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in decreased expression of RHBDF2 mRNAaffects binding|decreases expression|increases activity 19710929
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Phenobarbital 3.726195326
MESH:D055371 Acute Lung Injury pirinixic acid 3.3418653653
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 4.4320127859 20464547
MESH:D000230 Adenocarcinoma Estradiol 4.4311473722
MESH:D000236 Adenoma Benzo(a)pyrene 2.766695378
MESH:D018248 Adenoma, Liver Cell Phenobarbital 11.0917620307
MESH:D018248 Adenoma, Liver Cell pirinixic acid 11.0916434500
MESH:D000799 Angioedema Acetaminophen 4.1610982225
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.3319183758
MESH:D001161 Arteriosclerosis Dietary Fats 4.1515238619
MESH:D001321 Autistic Disorder Acetaminophen 1.4018445737
MESH:D001778 Blood Coagulation Disorders pirinixic acid 3.3519483382
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 1.8617474063 20146248
MESH:D001943 Breast Neoplasms Dietary Fats 1.8620435547
MESH:D001943 Breast Neoplasms Estradiol 1.8618497071 17289903 14630087 16675129 19861407 12948864 17261762 17018787
MESH:D002181 Candidiasis, Vulvovaginal Estradiol 4.7516111702
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 6.793084413
MESH:D006528 Carcinoma, Hepatocellular Aflatoxin B1 6.7921507988 12907637 12619106
MESH:D006528 Carcinoma, Hepatocellular Estradiol 6.7916924424
MESH:D006528 Carcinoma, Hepatocellular Phenobarbital 6.7920007298 20935162 17173139 1701930 6705139
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 2.1020419170
MESH:D002386 Cataract Acetaminophen 2.6910977129
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 7.0312371664
MESH:D002471 Cell Transformation, Neoplastic Estradiol 7.0318566989
MESH:D002493 Central Nervous System Diseases Phenobarbital 4.514080065
MESH:D002779 Cholestasis Cyclosporine 8.2619486331
MESH:D002779 Cholestasis pirinixic acid 8.2619176532
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5118249437
MESH:D003928 Diabetic Nephropathies Estradiol 3.5919279558
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 1.6311421492 19739265 16485898 16177239 11743745 15968718 16227642 12153990 12540782 19416960 19370779 11287661 10663392 16781746 17562736 11461765 11739529 19085960 16393943 12705907 11834606 16081117 2444490 18713872 12594235 18071297 12392966 14725611 11529661 17906064 14986274 10915739 19420014 15619225 19164858 16109766 14550746 19923254 12958197 10774834 17522070
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.4219426721
MESH:D050171 Dyslipidemias Dietary Fats 3.6018367378
MESH:D004421 Dystonia Phenobarbital 4.221851702
MESH:D004487 Edema pirinixic acid 2.6812083418
MESH:D016889 Endometrial Neoplasms Estradiol 3.1119148513 18566989 11473722
MESH:D004831 Epilepsies, Myoclonic Phenobarbital 4.373659116
MESH:D004828 Epilepsies, Partial Phenobarbital 4.1911558140 3922381
MESH:D004827 Epilepsy Phenobarbital 2.9820417680
MESH:D004832 Epilepsy, Absence Phenobarbital 3.726401628
MESH:D017029 Epilepsy, Complex Partial Phenobarbital 4.517750514
MESH:D004830 Epilepsy, Tonic-Clonic Phenobarbital 4.303659116
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 2.0516530937
MESH:D005234 Fatty Liver Cyclosporine 14.2919224547
MESH:D005234 Fatty Liver Dietary Fats 14.2917967931 18296743 19551842 19004024
MESH:D005234 Fatty Liver pirinixic acid 14.2919236843 20131406
MESH:D005355 Fibrosis Cyclosporine 9.5712639820 12168785
MESH:D005355 Fibrosis Dietary Fats 9.5718296743
MESH:D005756 Gastritis Acetaminophen 3.9916983495
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.508708960
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 2.7520471113
MESH:D006333 Heart Failure pirinixic acid 2.6520558911
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.7115720958
MESH:D006529 Hepatomegaly Phenobarbital 9.3616109766
MESH:D006529 Hepatomegaly pirinixic acid 9.3619772884 19176532 18467677 16221962
MESH:D006558 Herpes Genitalis Estradiol 5.3515709030
MESH:D019584 Hot Flashes Estradiol 4.0717088409
MESH:D006930 Hyperalgesia Acetaminophen 2.8616870215
MESH:D006937 Hypercholesterolemia Dietary Fats 3.8021332399
MESH:D006943 Hyperglycemia pirinixic acid 3.3820558911
MESH:D006949 Hyperlipidemias Dietary Fats 3.8321332399
MESH:D006973 Hypertension Cyclosporine 2.1610903974
MESH:D007249 Inflammation Dietary Fats 2.5220412841
MESH:D007333 Insulin Resistance Dietary Fats 13.0418457598 11836018
MESH:D007333 Insulin Resistance Estradiol 13.0416393666 16627594
MESH:D007333 Insulin Resistance pirinixic acid 13.0416306350
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.7615604871
MESH:D007674 Kidney Diseases Acetaminophen 10.6212587719 15629191
MESH:D007674 Kidney Diseases Cyclosporine 10.6218776723 10903974 8314463
MESH:D007674 Kidney Diseases Estradiol 10.6215618244
MESH:D007680 Kidney Neoplasms Cyclosporine 7.8512371664
MESH:D007680 Kidney Neoplasms Estradiol 7.8515610895
MESH:D008103 Liver Cirrhosis Dietary Fats 7.0118296743
MESH:D008103 Liver Cirrhosis Phenobarbital 7.0121047994
MESH:D008106 Liver Cirrhosis, Experimental Estradiol 2.3514659978 14716833
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 2.3515474484
MESH:D008107 Liver Diseases Acetaminophen 4.0816611625 11587558 12969438 19460945 19784758 19014921 12587719 16610002
MESH:D008107 Liver Diseases Phenobarbital 4.0819363144
MESH:D017114 Liver Failure, Acute Acetaminophen 3.4317185352 16871587
MESH:D008113 Liver Neoplasms Aflatoxin B1 11.2718177683 15890375 9163691 2125692
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 11.2720195826 21137059
MESH:D008113 Liver Neoplasms Phenobarbital 11.2719812893 19073162 21047994 8742319 19482888 15975961
MESH:D008113 Liver Neoplasms pirinixic acid 11.2715890375 16377806 20007298
MESH:D008114 Liver Neoplasms, Experimental Aflatoxin B1 6.438603461
MESH:D008114 Liver Neoplasms, Experimental Phenobarbital 6.432563599 1399818 18308698 17172636 6150874
MESH:D008175 Lung Neoplasms Aflatoxin B1 2.4714755239
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 2.4720869020 18520028 6695378 17053015 20064080 18816296 18569708 20135361 20464547
MESH:D008325 Mammary Neoplasms, Experimental Estradiol 2.6811807958 11408345 17203775 16891317
MESH:D020149 Manganese Poisoning Estradiol 4.8019453300
MESH:D008546 Melanoma, Experimental Acetaminophen 3.8319513568
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.1116801185
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.3516381670
MESH:D009135 Muscular Diseases pirinixic acid 3.7616239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.2119151258
MESH:D015428 Myocardial Reperfusion Injury Estradiol 8.7816810080
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 8.7816411023
MESH:D020191 Myoclonic Epilepsies, Progressive Phenobarbital 4.7617484760
MESH:D009369 Neoplasms Benzo(a)pyrene 5.1311141357
MESH:D009369 Neoplasms pirinixic acid 5.1317405874
MESH:D009389 Neovascularization, Pathologic Estradiol 4.0217289903
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.7617954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.4719348381 18481113
MESH:D009421 Nervous System Malformations Estradiol 3.8911399458 16427766
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.0418514411
MESH:D009765 Obesity Dietary Fats 4.5818457598 21332399 19632207 17217161 16723640 20518802 11836018 20132043 18674790
MESH:D009765 Obesity pirinixic acid 4.5820558911
MESH:D010018 Osteomalacia Phenobarbital 4.6517016548
MESH:D010051 Ovarian Neoplasms Estradiol 2.2719401270
MESH:D010146 Pain Acetaminophen 2.5616870215
MESH:D010190 Pancreatic Neoplasms Phenobarbital 2.5516965848
MESH:D011230 Precancerous Conditions Cyclosporine 9.5912371664
MESH:D011230 Precancerous Conditions Phenobarbital 9.592563599
MESH:D019048 Prostatic Intraepithelial Neoplasia Estradiol 4.0920887781
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 3.0617292933
MESH:D011471 Prostatic Neoplasms Estradiol 3.0616740699
MESH:D019310 Pseudolymphoma Phenobarbital 4.8112752131
MESH:D011565 Psoriasis Cyclosporine 2.2916882103
MESH:D015427 Reperfusion Injury pirinixic acid 2.4719058328
MESH:D012640 Seizures Phenobarbital 2.8216876388 3137016 4039156 11442880
MESH:D003294 Seizures, Febrile Phenobarbital 5.116407741
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 2.4519755658 10029692
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 1.5620155912 2093021
MESH:D013964 Thyroid Neoplasms Phenobarbital 3.211399818
MESH:D013978 Tibial Fractures Estradiol 5.0019048282
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 2.2417053015
MESH:D014581 Urticaria Acetaminophen 3.2010982225
MESH:D014605 Uveitis Cyclosporine 4.301336536
MESH:D015430 Weight Gain Dietary Fats 3.9216723640
MESH:D014985 Xerophthalmia Cyclosporine 4.7617120751
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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