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: C0521619
Disease: Obstruction of pelviureteric junction
Obstruction of pelviureteric junction 		0.700 Biomarker phenotype GENOMICS_ENGLAND
CUI: C0521619
Disease: Obstruction of pelviureteric junction
Obstruction of pelviureteric junction 		0.700 Biomarker phenotype CTD_human
CUI: C0521619
Disease: Obstruction of pelviureteric junction
Obstruction of pelviureteric junction 		0.700 Biomarker phenotype HPO
CUI: C1840451
Disease: MULTICYSTIC RENAL DYSPLASIA, BILATERAL
MULTICYSTIC RENAL DYSPLASIA, BILATERAL 		0.400 Biomarker disease CTD_human
CUI: C1840451
Disease: MULTICYSTIC RENAL DYSPLASIA, BILATERAL
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: 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: C0027651
Disease: Neoplasms
Neoplasms 		0.020 GeneticVariation group BEFREE Three intragenic Tbx18 polymorphisms were used to map the region of maximum AI to within the gene itself; 16 of 17 tumours exhibited imbalances of at least one of these markers. 12663494 2003
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: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		0.010 Biomarker disease BEFREE Allelic imbalance at intragenic markers of Tbx18 is a hallmark of murine osteosarcoma. 12663494 2003
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		0.020 Biomarker disease BEFREE Immunohistochemistry validated the discriminative value of corresponding endothelial protein expression between early (fractalkine/CX3CL1, IP10/CCL10, TBX18) or advanced (BAX, NFKB2) stages of atherosclerosis and versus their plaque-free controls. 17591977 2007
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		0.020 Biomarker disease BEFREE Immunohistochemistry validated the discriminative value of corresponding endothelial protein expression between early (fractalkine/CX3CL1, IP10/CCL10, TBX18) or advanced (BAX, NFKB2) stages of atherosclerosis and versus their plaque-free controls. 17591977 2007
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.020 Biomarker group BEFREE Analysis of tumor suppressor properties of two aberrantly methylated transcription factors, HOXB13 and TBX18, revealed that both inhibited growth and clonogenic survival of colon cancer cells in vitro, but only HOXB13 abolished tumor growth in nude mice. 20454457 2010
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.010 GeneticVariation disease BEFREE We speculated that the DNA sequence variants (DSVs) within TBX18 gene promoter may mediate CHD development by affecting TBX18 levels and the cardiac gene regulatory network. 23749171 2013