TBX18, T-box transcription factor 18, 9096

N. diseases: 31; N. variants: 8
Disease: Obstruction of pelviureteric junction ×
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 GeneticVariation phenotype UNIPROT Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter Development. 26235987 2015
CUI: C0521619
Disease: Obstruction of pelviureteric junction
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
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