TBX18, T-box transcription factor 18, 9096

N. diseases: 31; N. variants: 8
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome
0.100 Biomarker group HPO
Obstruction of pelviureteric junction
0.700 Biomarker phenotype GENOMICS_ENGLAND
Obstruction of pelviureteric junction
0.700 GeneticVariation phenotype UNIPROT Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter Development. 26235987 2015
Obstruction of pelviureteric junction
0.700 Biomarker phenotype GENOMICS_ENGLAND Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter Development. 26235987 2015
Obstruction of pelviureteric junction
0.700 Biomarker phenotype CTD_human
Obstruction of pelviureteric junction
0.700 Biomarker phenotype HPO
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.010 Biomarker disease BEFREE Allelic imbalance at intragenic markers of Tbx18 is a hallmark of murine osteosarcoma. 12663494 2003
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone
0.010 Biomarker disease BEFREE Allelic imbalance at intragenic markers of Tbx18 is a hallmark of murine osteosarcoma. 12663494 2003
CUI: C3532227
Disease: Pacing-induced cardiomyopathy
Pacing-induced cardiomyopathy
0.010 Biomarker disease BEFREE In protocol B, full-blown RV PICM was evident 4 weeks after complete AV block in both groups; subsequent intervention led to higher mean heart rate (56 ± 2 beats/min vs. 50.1 ± 0.4 beats/min; p = 0.05), less backup pacemaker utilization (53 ± 8.2% vs. 95 ± 1.6%; p = 0.003), and a greater ejection fraction (61.7 ± 1.3% vs. 49 ± 1.6%; p = 0.0003) in TBX18-injected animals versus control animals. 30947921 2019
CUI: C0235831
Disease: Renal Cell Dysplasia
Renal Cell Dysplasia
0.100 Biomarker disease HPO
CUI: C3536714
Disease: Renal dysplasia
Renal dysplasia
0.100 Biomarker disease HPO
CUI: C0232193
Disease: Rhythm from artificial pacing
Rhythm from artificial pacing
0.010 Biomarker phenotype BEFREE Following a previous in vitro study reporting the production of Tbx18-expressing human induced pluripotent stem cell-derived cardiomyocytes (hiPS-CMs), we aimed to investigate the efficacy of these engineered cells to generate pacemaker rhythms in a murine model of complete heart block. 30677516 2019
CUI: C0346251
Disease: Sarcoma of kidney
Sarcoma of kidney
0.100 Biomarker disease HPO
CUI: C0037052
Disease: Sick Sinus Syndrome
Sick Sinus Syndrome
0.010 Biomarker disease BEFREE Gene therapy targeting TBX18 could therefore have the potential to restore pacemaker function in human sick sinus syndrome obviating electronic pacemakers. 30259525 2018
CUI: C0042510
Disease: Ventricular Fibrillation
Ventricular Fibrillation
0.010 Biomarker disease BEFREE The duration of ventricular fibrillation (VF) was higher in the lentiviral Tbx18 group compared with the GFP-injected controls (P = 0.02) and the Tbx18-pacemaker cell group (P = 0.02). 30677516 2019
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects
0.010 GeneticVariation group BEFREE In this study, we genetically and functionally analyzed the TBX18 gene promoter in patients with ventricular septal defects (VSD) (n = 326) and ethnic-matched healthy controls (n = 327). 23749171 2013
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio
0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio
0.100 GeneticVariation phenotype GWASCAT Association of Genetic Variants Related to Gluteofemoral vs Abdominal Fat Distribution With Type 2 Diabetes, Coronary Disease, and Cardiovascular Risk Factors. 30575882 2018