AutismKB 2.0

Annotation Detail for TBX4


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Basic Information Top
Gene Symbol:TBX4 ( SPS )
Gene Full Name: T-box 4
Band: 17q23.2
Quick LinksEntrez ID:9496; OMIM: 601719; Uniprot ID:TBX4_HUMAN; ENSEMBL ID: ENSG00000121075; HGNC ID: 11603
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
No data
No data
Desease Name
height
DEVELOPMENTAL
No data
Desease Name
Small patella syndrome
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000638 Amiodarone Amiodarone results in increased expression of TBX4 mRNAincreases expression 19774075
D004997 Ethinyl Estradiol Ethinyl Estradiol results in decreased expression of TBX4 mRNAdecreases expression 17606305
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 5.0117505938
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 1.9014692618
MESH:D001145 Arrhythmias, Cardiac Amiodarone 4.3118218290 18057881 20041841
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 4.2311256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.9315885639
MESH:D001281 Atrial Fibrillation Amiodarone 4.2719698954 18651412
MESH:D001778 Blood Coagulation Disorders Amiodarone 4.4519483382
MESH:D002311 Cardiomyopathy, Dilated Amiodarone 3.0215710769 19225199
MESH:D002341 Carotid Artery Thrombosis Amiodarone 5.9718974383
MESH:D002779 Cholestasis Ethinyl Estradiol 3.2417110522 17681005 17333356 16105132 11677210 16919318 15861022
MESH:D056486 Drug-Induced Liver Injury Amiodarone 2.4915265979 18218290
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 3.8612538720
MESH:D005234 Fatty Liver Amiodarone 9.7114986274
MESH:D005234 Fatty Liver Ethinyl Estradiol 9.7115345470
MESH:D006529 Hepatomegaly Amiodarone 4.5115265979
MESH:D006937 Hypercholesterolemia Amiodarone 4.429751232 8137927
MESH:D007021 Hypospadias Ethinyl Estradiol 4.5716945680 16569931
MESH:D007037 Hypothyroidism Amiodarone 5.2817991464 18020914
MESH:D007247 Infertility, Female Ethinyl Estradiol 4.0712013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.7917937319
MESH:D008064 Lipidoses Amiodarone 3.8515342952 17567588
MESH:D008133 Long QT Syndrome Amiodarone 3.9611989578 17391786 15350150
MESH:D008171 Lung Diseases Amiodarone 3.6812587719
MESH:D017563 Lung Diseases, Interstitial Amiodarone 5.5518516814
MESH:D009181 Mycoses Amiodarone 5.9712754197 17974566
MESH:D016584 Panic Disorder Ethinyl Estradiol 4.2911578682
MESH:D011537 Pruritus Ethinyl Estradiol 4.2015861022 16919318
MESH:D011658 Pulmonary Fibrosis Amiodarone 2.9912832656 11597910 12490602
OMIM:609620 SHORT QT SYNDROME 1 Amiodarone 5.9718724381
OMIM:147891 SMALL PATELLA SYNDROME marker/mechanism
MESH:D013088 Spermatocele Ethinyl Estradiol 5.0116709447
MESH:D013276 Stomach Ulcer Amiodarone 3.8618087811
MESH:D013610 Tachycardia Amiodarone 4.9611238279
MESH:D017180 Tachycardia, Ventricular Amiodarone 4.8619225199
MESH:D019851 Thrombophilia Ethinyl Estradiol 4.2311994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.6215669648
MESH:D013959 Thyroid Diseases Amiodarone 5.8319731979
MESH:D013971 Thyrotoxicosis Amiodarone 5.6218020914 19584973
MESH:D016171 Torsades de Pointes Amiodarone 5.0811989578 17467628
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.9714692618
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 4.0915869587 14671159
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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