ISL1, ISL LIM homeobox 1, 3670

N. diseases: 94; N. variants: 2
Disease: Coronary heart disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.060 GeneticVariation disease BEFREE This research for the first time links an ISL1 loss-of-function mutation to double outlet right ventricle in humans, which adds insight to the molecular pathogenesis underpinning CHDs, suggesting potential implications for timely personalized management of CHD patients. 31484864 2019
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.060 GeneticVariation disease BEFREE This study was sought to identify the pathogenic mutation in the ISL1 gene contributing to CHD. 30390123 2019
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.060 GeneticVariation disease BEFREE We concluded that rs1017 contributed to the risk of CHD in Chinese Han people, and ISL1 may be involved in the formation and development of the heart. 24634231 2014
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.060 GeneticVariation disease BEFREE In conclusion, ISL1 common variant rs1017 is not associated with increased genetic risk of CHD in the white population. 23229290 2013
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.060 GeneticVariation disease BEFREE This is the first study which indicates that ISL1 common variant rs1017 may not play a role in sporadic CHD susceptibility in the Chinese population. 22480195 2012
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.060 GeneticVariation disease BEFREE Our results demonstrate that two different ISL1 haplotypes contribute to risk of CHD in white and black/African American populations. 20520780 2010