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
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 GENOMICS_ENGLAND
Obstruction of pelviureteric junction
0.700 Biomarker phenotype CTD_human
Obstruction of pelviureteric junction
0.700 Biomarker phenotype HPO
MULTICYSTIC RENAL DYSPLASIA, BILATERAL
0.400 Biomarker disease CTD_human
MULTICYSTIC RENAL DYSPLASIA, BILATERAL
0.400 CausalMutation disease CLINVAR
CUI: C4048262
Disease: Hydronephrosis Due To Pujo
Hydronephrosis Due To Pujo
0.300 Biomarker disease CTD_human
CUI: C0005890
Disease: Body Height
Body Height
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 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
CUI: C0016199
Disease: Flank Pain
Flank Pain
0.100 Biomarker phenotype HPO
CUI: C0020295
Disease: Hydronephrosis
Hydronephrosis
0.100 Biomarker disease HPO
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome
0.100 Biomarker group HPO
CUI: C0235831
Disease: Renal Cell Dysplasia
Renal Cell Dysplasia
0.100 Biomarker disease HPO
CUI: C0266295
Disease: Congenital hypoplasia of kidney
Congenital hypoplasia of kidney
0.100 Biomarker disease HPO
CUI: C0266324
Disease: Congenital dilatation of ureter
Congenital dilatation of ureter
0.100 Biomarker disease HPO
CUI: C0346251
Disease: Sarcoma of kidney
Sarcoma of kidney
0.100 Biomarker disease HPO
CUI: C0521620
Disease: Dilatation of ureter
Dilatation of ureter
0.100 Biomarker disease HPO
CUI: C1834931
Disease: Cystic renal dysplasia
Cystic renal dysplasia
0.100 Biomarker disease HPO
CUI: C3536714
Disease: Renal dysplasia
Renal dysplasia
0.100 Biomarker disease HPO
CUI: C3714581
Disease: Multicystic Dysplastic Kidney
Multicystic Dysplastic Kidney
0.100 Biomarker disease HPO
CUI: C0151517
Disease: Complete atrioventricular block
Complete atrioventricular block
0.040 Biomarker disease 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: C0151517
Disease: Complete atrioventricular block
Complete atrioventricular block
0.040 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: C0151517
Disease: Complete atrioventricular block
Complete atrioventricular block
0.040 Biomarker disease BEFREE Focal somatic gene transfer of TBX18 to the left ventricular apex in the CAVB rats resulted in ectopic ventricular beats within days, achieving a de novo ventricular rate faster than the slow atrioventricular (AV) junctional escape rhythm observed in control CAVB animals. 31061413 2019