ISL1, ISL LIM homeobox 1, 3670

N. diseases: 94; N. variants: 2
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease
0.060 Biomarker group BEFREE End-stage heart failure myocardium demonstrated increased expression of c-kit(+) and islet-1(+) CSCs by 2.0- and 2.5-fold, respectively, compared with myocardium from congenital heart disease patients. 26138767 2015
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease
0.060 GeneticVariation group BEFREE Genetic variations of ISL1 associated with human congenital heart disease in Chinese Han people. 24634231 2014
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease
0.060 GeneticVariation group BEFREE Lack of association of the 3'-UTR polymorphism (rs1017) in the ISL1 gene and risk of congenital heart disease in the white population. 23229290 2013
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease
0.060 GeneticVariation group BEFREE An ISL1 haplotype has recently been associated with congenital heart disease. 23152444 2013
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease
0.060 AlteredExpression group BEFREE Lacking ISL1 expression results in growth arrest or displays profound defects in heart development, including atria, ventricle, and the inflow and outflow tracts, which constitute a major form of congenital heart disease (CHD). 22480195 2012
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease
0.060 GeneticVariation group BEFREE A replication study analyzed these candidate SNPs in 1,044 new cases and 3,934 independent controls and confirmed that genetic variation in ISL1 is associated with risk of non-syndromic congenital heart disease. 20520780 2010