AutismKB 2.0

Annotation Detail for RHBDF1


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Basic Information Top
Gene Symbol:RHBDF1 ( C16orf8,Dist1,EGFR-RS,FLJ2235,FLJ22357,gene-89,gene-90,hDist1 )
Gene Full Name: rhomboid 5 homolog 1 (Drosophila)
Band: 16p13.3
Quick LinksEntrez ID:64285; OMIM: NA; Uniprot ID:RHDF1_HUMAN; ENSEMBL ID: ENSG00000007384; HGNC ID: 20561
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
C009505 4,4'-diaminodiphenylmethane 4,4'-diaminodiphenylmethane results in increased expression of RHBDF1 mRNAincreases expression 18648102
C035207 4-amino-2,6-dinitrotoluene 4-amino-2,6-dinitrotoluene affects the expression of RHBDF1 mRNAaffects expression 21346803
D010634 Phenobarbital NR1I3 protein affects the reaction [Phenobarbital results in increased expression of RHBDF1 mRNA]affects reaction|increases expression 19482888
D010634 Phenobarbital Phenobarbital results in increased expression of RHBDF1 mRNAincreases expression 19482888
C006253 pirinixic acid pirinixic acid results in increased expression of RHBDF1 mRNAincreases expression 17426115
18301758
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced 4-amino-2,6-dinitrotoluene 10.897525203
MESH:D000014 Abnormalities, Drug-Induced Phenobarbital 10.896195326
MESH:D055371 Acute Lung Injury pirinixic acid 3.5818653653
MESH:D000236 Adenoma 4,4'-diaminodiphenylmethane 2.963712494
MESH:D018248 Adenoma, Liver Cell Phenobarbital 12.3217620307
MESH:D018248 Adenoma, Liver Cell pirinixic acid 12.3216434500
MESH:D001660 Biliary Tract Diseases 4,4'-diaminodiphenylmethane 5.741440618 11289319
MESH:D001778 Blood Coagulation Disorders pirinixic acid 3.5719483382
MESH:D006528 Carcinoma, Hepatocellular 4,4'-diaminodiphenylmethane 3.163581430 7296757
MESH:D006528 Carcinoma, Hepatocellular Phenobarbital 3.161701930 17173139 20935162 20007298 6705139
MESH:D002292 Carcinoma, Renal Cell 4,4'-diaminodiphenylmethane 2.837296757
MESH:D002386 Cataract 4-amino-2,6-dinitrotoluene 3.8414694615
MESH:D002471 Cell Transformation, Neoplastic 4,4'-diaminodiphenylmethane 3.027505956
MESH:D002493 Central Nervous System Diseases Phenobarbital 4.814080065
MESH:D002779 Cholestasis 4,4'-diaminodiphenylmethane 8.839022650 19486331
MESH:D002779 Cholestasis pirinixic acid 8.8319176532
MESH:D000013 Congenital Abnormalities 4-amino-2,6-dinitrotoluene 4.5315095906
MESH:D017449 Dermatitis, Allergic Contact 4,4'-diaminodiphenylmethane 3.3511298694 8156756 8970840 12868966 14531868 18759878 11906362 2524372
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5718249437
MESH:D003877 Dermatitis, Contact 4,4'-diaminodiphenylmethane 3.953621924 2952479
MESH:D056486 Drug-Induced Liver Injury 4,4'-diaminodiphenylmethane 4.409653073 7440962 6679447 16192314 11289319 18289764 18692083 9328219 18648102 1440618 8291058 6482804 9022650
MESH:D056486 Drug-Induced Liver Injury 4-amino-2,6-dinitrotoluene 4.4021346803
MESH:D004421 Dystonia Phenobarbital 4.471851702
MESH:D004487 Edema pirinixic acid 2.9012083418
MESH:D004831 Epilepsies, Myoclonic Phenobarbital 4.673659116
MESH:D004828 Epilepsies, Partial Phenobarbital 4.593922381 11558140
MESH:D004827 Epilepsy Phenobarbital 3.0620417680
MESH:D004832 Epilepsy, Absence Phenobarbital 3.916401628
MESH:D017029 Epilepsy, Complex Partial Phenobarbital 4.817750514
MESH:D004830 Epilepsy, Tonic-Clonic Phenobarbital 4.653659116
MESH:D004938 Esophageal Neoplasms 4,4'-diaminodiphenylmethane 2.183581430
MESH:D005234 Fatty Liver pirinixic acid 3.1919236843 20131406
MESH:D005350 Fibroma 4,4'-diaminodiphenylmethane 5.746705139
MESH:D006042 Goiter 4,4'-diaminodiphenylmethane 4.507505956
MESH:D006333 Heart Failure pirinixic acid 2.7620558911
MESH:D006505 Hepatitis 4,4'-diaminodiphenylmethane 4.026705139
MESH:D006529 Hepatomegaly Phenobarbital 10.4116109766
MESH:D006529 Hepatomegaly pirinixic acid 10.4116221962 19772884 18467677 19176532
MESH:D006943 Hyperglycemia pirinixic acid 3.5820558911
MESH:D006965 Hyperplasia 4,4'-diaminodiphenylmethane 4.5015034207
MESH:D007333 Insulin Resistance pirinixic acid 2.8716306350
MESH:D007565 Jaundice 4,4'-diaminodiphenylmethane 5.748074119 9022650
MESH:D007680 Kidney Neoplasms 4,4'-diaminodiphenylmethane 3.316582329
MESH:D008103 Liver Cirrhosis Phenobarbital 3.0821047994
MESH:D008105 Liver Cirrhosis, Biliary 4,4'-diaminodiphenylmethane 3.429327722 15034207
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 1.3515474484
MESH:D008107 Liver Diseases Phenobarbital 2.2419363144
MESH:D008113 Liver Neoplasms Phenobarbital 4.878742319 19073162 21047994 19812893 15975961 19482888
MESH:D008113 Liver Neoplasms pirinixic acid 4.8715890375 16377806 20007298
MESH:D008114 Liver Neoplasms, Experimental 4,4'-diaminodiphenylmethane 6.71598648 3712494 6587162 1399818
MESH:D008114 Liver Neoplasms, Experimental Phenobarbital 6.716150874 18308698 17172636 2563599 1399818
MESH:D009135 Muscular Diseases pirinixic acid 4.0716239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.2719151258
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.2516411023
MESH:D020191 Myoclonic Epilepsies, Progressive Phenobarbital 5.1117484760
MESH:D009362 Neoplasm Metastasis 4,4'-diaminodiphenylmethane 2.593581430
MESH:D009369 Neoplasms pirinixic acid 2.1117405874
MESH:D009436 Neural Tube Defects 4,4'-diaminodiphenylmethane 3.156679447
MESH:D009765 Obesity pirinixic acid 1.8820558911
MESH:D009784 Occupational Diseases 4,4'-diaminodiphenylmethane 10.476482804 4026338
MESH:D009784 Occupational Diseases 4-amino-2,6-dinitrotoluene 10.4714694615
MESH:D009902 Optic Neuritis 4,4'-diaminodiphenylmethane 5.743988306
MESH:D010018 Osteomalacia Phenobarbital 5.0017016548
MESH:D010190 Pancreatic Neoplasms Phenobarbital 2.6016965848
MESH:D010212 Papilloma 4,4'-diaminodiphenylmethane 4.047296757
MESH:D010787 Photosensitivity Disorders 4,4'-diaminodiphenylmethane 5.196228378
MESH:D011230 Precancerous Conditions Phenobarbital 3.992563599
MESH:D019310 Pseudolymphoma Phenobarbital 5.2212752131
MESH:D015427 Reperfusion Injury pirinixic acid 2.5519058328
MESH:D012162 Retinal Degeneration 4,4'-diaminodiphenylmethane 3.673692021
MESH:D012640 Seizures Phenobarbital 2.9516876388 3137016 11442880 4039156
MESH:D003294 Seizures, Febrile Phenobarbital 5.456407741
MESH:D013964 Thyroid Neoplasms 4,4'-diaminodiphenylmethane 8.181399818 3712494 7505956 6582329 6587162
MESH:D013964 Thyroid Neoplasms Phenobarbital 8.181399818
MESH:D001749 Urinary Bladder Neoplasms 4,4'-diaminodiphenylmethane 2.408074119
No data
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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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