AutismKB 2.0

Annotation Detail for KBTBD4


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Basic Information Top
Gene Symbol:KBTBD4 ( BKLHD4,FLJ10450,HSPC252 )
Gene Full Name: kelch repeat and BTB (POZ) domain containing 4
Band: 11p11.2
Quick LinksEntrez ID:55709; OMIM: NA; Uniprot ID:KBTB4_HUMAN; ENSEMBL ID: ENSG00000123444; HGNC ID: 23761
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
C016403 2,4-dinitrotoluene 2,4-dinitrotoluene affects the expression of KBTBD4 mRNAaffects expression 21346803
C009505 4,4'-diaminodiphenylmethane 4,4'-diaminodiphenylmethane results in decreased expression of KBTBD4 mRNAdecreases expression 18648102
D000082 Acetaminophen Acetaminophen affects the expression of KBTBD4 mRNAaffects expression 17562736
D016572 Cyclosporine Cyclosporine results in decreased expression of KBTBD4 mRNAdecreases expression 20106945
D007657 Ketone Bodies Ketone Bodies results in decreased expression of KBTBD4 mRNAdecreases expression 16807920
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000236 Adenoma 4,4'-diaminodiphenylmethane 2.933712494
MESH:D000799 Angioedema Acetaminophen 4.4510982225
MESH:D001321 Autistic Disorder Acetaminophen 1.4018445737
MESH:D001660 Biliary Tract Diseases 4,4'-diaminodiphenylmethane 5.631440618 11289319
MESH:D006528 Carcinoma, Hepatocellular 2,4-dinitrotoluene 4.7516705839
MESH:D006528 Carcinoma, Hepatocellular 4,4'-diaminodiphenylmethane 4.757296757 3581430
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 4.753084413
MESH:D002292 Carcinoma, Renal Cell 4,4'-diaminodiphenylmethane 2.817296757
MESH:D002386 Cataract Acetaminophen 2.7710977129
MESH:D002471 Cell Transformation, Neoplastic 4,4'-diaminodiphenylmethane 7.367505956
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 7.3612371664
MESH:D002779 Cholestasis 4,4'-diaminodiphenylmethane 8.759022650 19486331
MESH:D002779 Cholestasis Cyclosporine 8.7519486331
MESH:D003490 Cyanosis 2,4-dinitrotoluene 4.5018551238
MESH:D017449 Dermatitis, Allergic Contact 4,4'-diaminodiphenylmethane 3.288970840 18759878 11298694 12868966 2524372 8156756 14531868 11906362
MESH:D003877 Dermatitis, Contact 4,4'-diaminodiphenylmethane 3.892952479 3621924
MESH:D056486 Drug-Induced Liver Injury 2,4-dinitrotoluene 6.6721346803 18551238
MESH:D056486 Drug-Induced Liver Injury 4,4'-diaminodiphenylmethane 6.6718289764 9328219 18692083 7440962 9022650 6679447 9653073 6482804 11289319 8291058 1440618 18648102 16192314
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 6.6711529661 19416960 10663392 11834606 12153990 11421492 12540782 16081117 10774834 14986274 19923254 16227642 2444490 11461765 19420014 19085960 14550746 18071297 11743745 12705907 10915739 14725611 12392966 15968718 11739529 16781746 18713872 17906064 15619225 17522070 16485898 16109766 17562736 12958197 12594235 16177239 19164858 19739265 16393943 11287661 19370779
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.7119426721
MESH:D004938 Esophageal Neoplasms 4,4'-diaminodiphenylmethane 2.173581430
MESH:D005234 Fatty Liver Cyclosporine 3.2319224547
MESH:D005350 Fibroma 4,4'-diaminodiphenylmethane 5.636705139
MESH:D005355 Fibrosis Cyclosporine 3.6212639820 12168785
MESH:D005756 Gastritis Acetaminophen 4.2916983495
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.768708960
MESH:D006042 Goiter 4,4'-diaminodiphenylmethane 4.447505956
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.9615720958
MESH:D006505 Hepatitis 4,4'-diaminodiphenylmethane 3.956705139
MESH:D006930 Hyperalgesia Acetaminophen 2.9916870215
MESH:D006965 Hyperplasia 4,4'-diaminodiphenylmethane 4.4215034207
MESH:D006973 Hypertension Cyclosporine 2.2010903974
MESH:D007565 Jaundice 4,4'-diaminodiphenylmethane 5.638074119 9022650
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 5.0515604871
MESH:D007674 Kidney Diseases Acetaminophen 6.4112587719 15629191
MESH:D007674 Kidney Diseases Cyclosporine 6.4118776723 10903974 8314463
MESH:D007680 Kidney Neoplasms 2,4-dinitrotoluene 14.1916705839
MESH:D007680 Kidney Neoplasms 4,4'-diaminodiphenylmethane 14.196582329
MESH:D007680 Kidney Neoplasms Cyclosporine 14.1912371664
MESH:D008105 Liver Cirrhosis, Biliary 4,4'-diaminodiphenylmethane 3.409327722 15034207
MESH:D008107 Liver Diseases Acetaminophen 1.6916611625 19784758 11587558 12969438 16610002 19014921 12587719 19460945
MESH:D017114 Liver Failure, Acute Acetaminophen 3.5816871587 17185352
MESH:D008114 Liver Neoplasms, Experimental 4,4'-diaminodiphenylmethane 2.731399818 598648 3712494 6587162
MESH:D008546 Melanoma, Experimental Acetaminophen 4.0519513568
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.4016801185
MESH:D009336 Necrosis 2,4-dinitrotoluene 4.4018551238
MESH:D009362 Neoplasm Metastasis 4,4'-diaminodiphenylmethane 2.583581430
MESH:D009402 Nephrosis, Lipoid Cyclosporine 5.0517954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.6119348381 18481113
MESH:D009436 Neural Tube Defects 4,4'-diaminodiphenylmethane 3.136679447
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.1818514411
MESH:D009784 Occupational Diseases 2,4-dinitrotoluene 10.0612819281 16049721
MESH:D009784 Occupational Diseases 4,4'-diaminodiphenylmethane 10.066482804 4026338
MESH:D009902 Optic Neuritis 4,4'-diaminodiphenylmethane 5.633988306
MESH:D010146 Pain Acetaminophen 2.6916870215
MESH:D010212 Papilloma 4,4'-diaminodiphenylmethane 3.977296757
MESH:D010787 Photosensitivity Disorders 4,4'-diaminodiphenylmethane 5.086228378
MESH:D011230 Precancerous Conditions Cyclosporine 3.5512371664
MESH:D011565 Psoriasis Cyclosporine 2.3216882103
MESH:D012162 Retinal Degeneration 4,4'-diaminodiphenylmethane 3.643692021
MESH:D012640 Seizures 2,4-dinitrotoluene 2.7618551238
MESH:D013964 Thyroid Neoplasms 4,4'-diaminodiphenylmethane 3.156582329 1399818 3712494 6587162 7505956
MESH:D001749 Urinary Bladder Neoplasms 2,4-dinitrotoluene 5.3916049721
MESH:D001749 Urinary Bladder Neoplasms 4,4'-diaminodiphenylmethane 5.398074119
MESH:D014571 Urologic Neoplasms 2,4-dinitrotoluene 4.8610091137
MESH:D014581 Urticaria Acetaminophen 3.3810982225
MESH:D014605 Uveitis Cyclosporine 4.591336536
MESH:D014985 Xerophthalmia Cyclosporine 5.0517120751
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