TBX1, T-box transcription factor 1, 6899

N. diseases: 417; N. variants: 14
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension
0.020 GeneticVariation disease BEFREE These findings suggest that polymorphism of rs1800780 (A→G) in the eNOS gene may be one of the most important genetic factors associated with essential hypertension susceptibility, and those who have haplotype TGA may be at risk to develop essential hypertension. 24292621 2014
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension
0.020 Biomarker disease BEFREE In the Han population, the frequency of haplotype TGG was significantly higher in the EH group than in controls, whereas haplotype TGA occurred significantly less often in EH than in controls. 21644207 2011