MSX1, msh homeobox 1, 4487

N. diseases: 180; N. variants: 21
Disease: Atrial Septal Defects ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.020 Biomarker group BEFREE A locus in chromosome 4p16, adjacent to MSX1 and STX18, has been associated with atrial septal defects (ASD) in multiple European and Chinese cohorts. 31712678 2019
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.020 GeneticVariation group BEFREE However, a region on chromosome 4p16, adjacent to the MSX1 and STX18 genes, was associated (P = 9.5 × 10⁻⁷) with the risk of ostium secundum atrial septal defect (ASD) in the discovery cohort (N = 340 cases), and this association was replicated in a further 417 ASD cases and 2,520 controls (replication P = 5.0 × 10⁻⁵; odds ratio (OR) in replication cohort = 1.40, 95% confidence interval (CI) = 1.19-1.65; combined P = 2.6 × 10⁻¹⁰). 23708191 2013