AutismKB 2.0

Annotation Detail for TCOF1


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Basic Information Top
Gene Symbol:TCOF1 ( MFD1,treacle )
Gene Full Name: Treacher Collins-Franceschetti syndrome 1
Band: 5q32-q33.1
Quick LinksEntrez ID:6949; OMIM: 606847; Uniprot ID:TCOF_HUMAN; ENSEMBL ID: ENSG00000070814; HGNC ID: 11654
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
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Desease Name
Treacher Collins mandibulofacial dysostosis
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C016403 2,4-dinitrotoluene 2,4-dinitrotoluene affects the expression of TCOF1 mRNAaffects expression 21346803
C009505 4,4'-diaminodiphenylmethane 4,4'-diaminodiphenylmethane results in decreased expression of TCOF1 mRNAdecreases expression 18648102
D000082 Acetaminophen Acetaminophen affects the expression of TCOF1 mRNAaffects expression 17562736
D004997 Ethinyl Estradiol Ethinyl Estradiol results in increased expression of TCOF1 mRNAincreases expression 17942748
D004997 Ethinyl Estradiol [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of TCOF1 mRNAaffects cotreatment|increases expression 17942748
C056507 gemcitabine gemcitabine results in decreased expression of TCOF1 mRNAdecreases expression 17039268
C029424 hydrazine hydrazine results in decreased expression of TCOF1 mRNAdecreases expression 15282401
D007657 Ketone Bodies Ketone Bodies results in decreased expression of TCOF1 mRNAdecreases expression 16807920
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in increased expression of TCOF1 mRNAaffects binding|increases activity|increases expression 19710929
D018038 Sodium Selenite Sodium Selenite results in increased expression of TCOF1 mRNAincreases expression 18175754
C004648 testosterone enanthate testosterone enanthate affects the expression of TCOF1 mRNAaffects expression 17440010
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of TCOF1 mRNAaffects cotreatment|increases expression 17942748
D014212 Tretinoin Tretinoin results in decreased expression of TCOF1 mRNAdecreases expression 16249480
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.0011752688 14514962 15322242
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.1217505938
MESH:D055371 Acute Lung Injury pirinixic acid 3.2318653653
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 1.8314692618
MESH:D000236 Adenoma 4,4'-diaminodiphenylmethane 2.813712494
MESH:D018248 Adenoma, Liver Cell pirinixic acid 10.4216434500
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 10.4216835633
MESH:D000505 Alopecia Tretinoin 3.7015955085
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.0511748828
MESH:D000799 Angioedema Acetaminophen 4.0210982225
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.6011256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 7.4215885639
MESH:D001169 Arthritis, Experimental Tretinoin 7.4216412693
MESH:D001172 Arthritis, Rheumatoid Tretinoin 2.2916292516
MESH:D001249 Asthma Tretinoin 2.3716456186
MESH:D001321 Autistic Disorder Acetaminophen 1.4118445737
MESH:D001471 Barrett Esophagus Tretinoin 4.5316935849
MESH:D001660 Biliary Tract Diseases 4,4'-diaminodiphenylmethane 5.191440618 11289319
MESH:D001778 Blood Coagulation Disorders pirinixic acid 15.9319483382
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 15.9312125929
MESH:D001778 Blood Coagulation Disorders Tretinoin 15.9316206674 16197459
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 3.9615340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.8315746008
MESH:D001943 Breast Neoplasms gemcitabine 1.9818382427 17039268
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.9820435547
MESH:D001943 Breast Neoplasms Tretinoin 1.9816873071 16166294 16443354
MESH:D001997 Bronchopulmonary Dysplasia Tretinoin 4.7416813970
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.8916835633
MESH:D018236 Carcinoma, Embryonal Tretinoin 5.3316168501
MESH:D006528 Carcinoma, Hepatocellular 2,4-dinitrotoluene 6.6816705839
MESH:D006528 Carcinoma, Hepatocellular 4,4'-diaminodiphenylmethane 6.687296757 3581430
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 6.683084413
MESH:D006528 Carcinoma, Hepatocellular Tretinoin 6.681917145
MESH:D002292 Carcinoma, Renal Cell 4,4'-diaminodiphenylmethane 2.727296757
MESH:D002294 Carcinoma, Squamous Cell Tretinoin 2.3216096774 16051514
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.4216120746 18670907 18850075
MESH:D002386 Cataract Acetaminophen 7.4310977129
MESH:D002386 Cataract Tretinoin 7.4317460283
MESH:D002471 Cell Transformation, Neoplastic 4,4'-diaminodiphenylmethane 2.837505956
MESH:D018290 Cervical Intraepithelial Neoplasia Tretinoin 4.7416129372
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.2616835633
MESH:D002779 Cholestasis 4,4'-diaminodiphenylmethane 13.8519486331 9022650
MESH:D002779 Cholestasis Ethinyl Estradiol 13.8517681005 17333356 16919318 15861022 16105132 17110522 11677210
MESH:D002779 Cholestasis pirinixic acid 13.8519176532
MESH:D002822 Choriocarcinoma Tretinoin 5.3316461808
MESH:D019457 Chromosome Breakage Sodium Selenite 4.8915894690
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 5.9012621046 8697196 15668235 15340226 16354765
MESH:D002972 Cleft Palate Tretinoin 5.909407595
MESH:D003092 Colitis Tretinoin 3.8417035595
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.1617141729 14669216
MESH:D019465 Craniofacial Abnormalities marker/mechanism 16938878
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 2.4820055451 10048152 15322242
MESH:D019465 Craniofacial Abnormalities Tretinoin 2.4816925845 8800419 9211117 9125849 9224671 17551590 10589399 14991402 9142499 9664655
MESH:D003490 Cyanosis 2,4-dinitrotoluene 4.1518551238
MESH:D017449 Dermatitis, Allergic Contact 4,4'-diaminodiphenylmethane 2.948156756 8970840 14531868 11298694 11906362 18759878 2524372 12868966
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.4718249437
MESH:D003877 Dermatitis, Contact 4,4'-diaminodiphenylmethane 3.612952479 3621924
MESH:D003920 Diabetes Mellitus Sodium Selenite 3.8716285004
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.6917107852
MESH:D056486 Drug-Induced Liver Injury 2,4-dinitrotoluene 12.3418551238 21346803
MESH:D056486 Drug-Induced Liver Injury 4,4'-diaminodiphenylmethane 12.349653073 7440962 8291058 9328219 18692083 18648102 18289764 11289319 6482804 16192314 6679447 9022650 1440618
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 12.3416393943 11739529 19420014 18713872 12594235 16109766 14550746 12705907 11421492 14725611 16485898 11529661 10774834 12540782 17562736 18071297 2444490 16081117 17522070 11287661 19923254 16227642 19164858 19085960 15619225 16177239 15968718 12958197 19370779 19739265 12392966 12153990 11834606 11461765 11743745 19416960 14986274 17906064 16781746 10915739 10663392
MESH:D056486 Drug-Induced Liver Injury Sodium Selenite 12.3415131321
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 12.3420420201
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.2719426721
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.8411462148
MESH:D004487 Edema pirinixic acid 6.9012083418
MESH:D004487 Edema Tetrachlorodibenzodioxin 6.9012711302 11000095
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 12.5318230668 15322242 16714409
MESH:D004489 Edema, Cardiac Tretinoin 12.5318230668
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 3.3112538720
MESH:D016889 Endometrial Neoplasms Tretinoin 3.1816569247
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.129294722 10568697
MESH:D004938 Esophageal Neoplasms 4,4'-diaminodiphenylmethane 2.133581430
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 9.1111564622
MESH:D005124 Eye Abnormalities Tretinoin 9.119664655 16938888
MESH:D005234 Fatty Liver Ethinyl Estradiol 7.9115345470
MESH:D005234 Fatty Liver pirinixic acid 7.9119236843 20131406
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.5911858732
MESH:D005350 Fibroma 4,4'-diaminodiphenylmethane 5.196705139
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 9.0920067830
MESH:D005355 Fibrosis Tretinoin 9.0917994277
MESH:D005756 Gastritis Acetaminophen 3.8516983495
MESH:D005909 Glioblastoma Tretinoin 3.0717312396
MESH:D006042 Goiter 4,4'-diaminodiphenylmethane 4.157505956
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.7710696789
MESH:D006258 Head and Neck Neoplasms Tretinoin 3.2616096774
MESH:D006317 Hearing Loss, Noise-Induced Tretinoin 5.3316084493
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 6.7211294989 10048152
MESH:D006330 Heart Defects, Congenital Tretinoin 6.729664655 14991402
MESH:D006333 Heart Failure pirinixic acid 2.6020558911
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.4411000095
MESH:D006505 Hepatitis 4,4'-diaminodiphenylmethane 3.646705139
MESH:D006529 Hepatomegaly pirinixic acid 8.7316221962 19176532 19772884 18467677
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 8.7315340226 12621046 16120746
MESH:D019247 HIV Wasting Syndrome testosterone enanthate 5.9217440010
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.228697196 16354765 15340226 16959395 18606429
MESH:D006930 Hyperalgesia Acetaminophen 7.9216870215
MESH:D006930 Hyperalgesia Tretinoin 7.9216870215
MESH:D017681 Hypereosinophilic Syndrome Tretinoin 4.7116778211
MESH:D006943 Hyperglycemia pirinixic acid 3.2920558911
MESH:D006965 Hyperplasia 4,4'-diaminodiphenylmethane 4.0815034207
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 1.9418850075 18670907
MESH:D007021 Hypospadias Ethinyl Estradiol 3.9516945680 16569931
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.5812013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.5617937319
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 1.9112200463 12878042
MESH:D007333 Insulin Resistance pirinixic acid 7.5416306350
MESH:D007333 Insulin Resistance Sodium Selenite 7.5414714311
MESH:D007410 Intestinal Diseases Tretinoin 3.9017994277
MESH:D007565 Jaundice 4,4'-diaminodiphenylmethane 5.198074119 9022650
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 10.3016580747
MESH:D007569 Jaw Abnormalities Tretinoin 10.3015992940 17551590
MESH:D007674 Kidney Diseases Acetaminophen 2.2615629191 12587719
MESH:D007680 Kidney Neoplasms 2,4-dinitrotoluene 7.6716705839
MESH:D007680 Kidney Neoplasms 4,4'-diaminodiphenylmethane 7.676582329
MESH:D007938 Leukemia Tretinoin 2.8217143497
MESH:D007951 Leukemia, Myeloid Tretinoin 3.8116932348 19285840 16482212
MESH:D015470 Leukemia, Myeloid, Acute Tretinoin 2.0919850784 17596541 16294345
MESH:D015473 Leukemia, Promyelocytic, Acute Tretinoin 3.2216766008 12679006 15748426 16891316 17712046 19029980 17217047 16788101 19642359 17301526 16331271 19225113 17368321 17649720 16140955 17361223 9834237 19075265 17506722 16935935 19035177 17339181 16823087 17107899 17294898
MESH:D017880 Limb Deformities, Congenital Tretinoin 3.389224671
MESH:D008105 Liver Cirrhosis, Biliary 4,4'-diaminodiphenylmethane 3.2615034207 9327722
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 3.4615474484
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 3.4612878042
MESH:D008106 Liver Cirrhosis, Experimental Tretinoin 3.4616248980 18397230
MESH:D008107 Liver Diseases Acetaminophen 1.6519460945 16611625 11587558 12587719 19014921 16610002 12969438 19784758
MESH:D017114 Liver Failure, Acute Acetaminophen 3.3416871587 17185352
MESH:D008113 Liver Neoplasms pirinixic acid 4.3720007298 16377806 15890375
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 4.3716984957
MESH:D008114 Liver Neoplasms, Experimental 4,4'-diaminodiphenylmethane 5.956587162 1399818 3712494 598648
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 5.9512151625
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 1.2411884234 19555203
MESH:D016393 Lymphoma, B-Cell Sodium Selenite 4.1814737004
MESH:D008342 Mandibulofacial Dysostosis marker/mechanism 16938878
MESH:D008527 Medulloblastoma Tretinoin 2.8217453147
MESH:D008545 Melanoma Tretinoin 1.9516752155
MESH:D008546 Melanoma, Experimental Acetaminophen 3.7119513568
MESH:D008591 Meningomyelocele Tretinoin 4.5616940565
MESH:D009135 Muscular Diseases pirinixic acid 3.6416239165
MESH:D009190 Myelodysplastic Syndromes Tretinoin 3.1417596541
MESH:D009203 Myocardial Infarction pirinixic acid 2.1819151258
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.1112213967
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.0316411023
MESH:D009336 Necrosis 2,4-dinitrotoluene 4.0118551238
MESH:D009362 Neoplasm Metastasis 4,4'-diaminodiphenylmethane 2.513581430
MESH:D009369 Neoplasms pirinixic acid 5.0817405874
MESH:D009369 Neoplasms Tretinoin 5.0816946489 16594593
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 9.9414600291
MESH:D009421 Nervous System Malformations Tretinoin 9.949125849
MESH:D009436 Neural Tube Defects 4,4'-diaminodiphenylmethane 7.466679447
MESH:D009436 Neural Tube Defects Tretinoin 7.469142499
MESH:D019636 Neurodegenerative Diseases Acetaminophen 2.9618514411
MESH:D009765 Obesity pirinixic acid 1.8420558911
MESH:D009784 Occupational Diseases 2,4-dinitrotoluene 9.2316049721 12819281
MESH:D009784 Occupational Diseases 4,4'-diaminodiphenylmethane 9.234026338 6482804
MESH:D009902 Optic Neuritis 4,4'-diaminodiphenylmethane 5.193988306
MESH:D010051 Ovarian Neoplasms Tretinoin 2.3716936753
MESH:D010146 Pain Acetaminophen 6.8916870215
MESH:D010146 Pain Tretinoin 6.8916870215
MESH:D010190 Pancreatic Neoplasms gemcitabine 5.7816929163 18383843 11504793 17440100 18992248
MESH:D010190 Pancreatic Neoplasms Tretinoin 5.7815976015
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.8011578682
MESH:D010212 Papilloma 4,4'-diaminodiphenylmethane 3.627296757
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.4212520081
MESH:D010787 Photosensitivity Disorders 4,4'-diaminodiphenylmethane 4.646228378
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.6918163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.3411896295 11118676 11222880 11399792
MESH:D011471 Prostatic Neoplasms Sodium Selenite 3.3818760546
MESH:D011507 Proteinuria Tretinoin 3.7216636307
MESH:D011537 Pruritus Ethinyl Estradiol 3.4715861022 16919318
MESH:D011625 Pterygium Tretinoin 4.9516723453
MESH:D015427 Reperfusion Injury pirinixic acid 2.4319058328
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 3.9618990726
MESH:D012162 Retinal Degeneration 4,4'-diaminodiphenylmethane 3.463692021
MESH:D012208 Rhabdomyosarcoma Tretinoin 4.2216283617 16116481
MESH:D012640 Seizures 2,4-dinitrotoluene 2.6018551238
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 5.7216192470
MESH:D012878 Skin Neoplasms Tretinoin 5.7216467112
MESH:D013088 Spermatocele Ethinyl Estradiol 4.1216709447
MESH:D013274 Stomach Neoplasms Tretinoin 1.8017261132
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.7411994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.2515669648
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.0812697716
MESH:D013964 Thyroid Neoplasms 4,4'-diaminodiphenylmethane 7.411399818 6582329 7505956 6587162 3712494
MESH:D013964 Thyroid Neoplasms Tretinoin 7.4116026305 17045167
MESH:D014062 Tongue Neoplasms Tretinoin 3.8916051514
MESH:C538661 Treacher Collins-Franceschetti syndrome marker/mechanism
MESH:D014376 Tuberculosis Tretinoin 3.2916040207
MESH:D001749 Urinary Bladder Neoplasms 2,4-dinitrotoluene 5.1416049721
MESH:D001749 Urinary Bladder Neoplasms 4,4'-diaminodiphenylmethane 5.148074119
MESH:D014571 Urologic Neoplasms 2,4-dinitrotoluene 4.4710091137
MESH:D014581 Urticaria Acetaminophen 3.0910982225
MESH:D002583 Uterine Cervical Neoplasms Tretinoin 3.7816129372
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.4214692618
MESH:D014604 Uveal Neoplasms Tretinoin 4.7816752155
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.7712125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.6515869587 14671159
MESH:D014820 Vitiligo Tretinoin 4.1816761959
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.4215886252
MESH:D009396 Wilms Tumor Tretinoin 4.0716287080
Pathway ID Pathway Name
KEGG:03008 Ribosome biogenesis in eukaryotes
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Simple Query:


  (e.g. CHD8)

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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