ISL1, ISL LIM homeobox 1, 3670

N. diseases: 94; N. variants: 2
Disease: Ventricular Septal Defects ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		0.030 GeneticVariation group BEFREE As a result, a new heterozygous ISL1 mutation, NM_002202.2: c.225C>G; p. (Tyr75*), was discovered in an index patient with double outlet right ventricle and ventricular septal defect. 31484864 2019
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		0.030 Biomarker group BEFREE ISL1 is related to the atrial septal defect group and the ventricular septal defect group, and the genotypes were associated with the occurrence of CHD in the dominant mode of inheritance. 24634231 2014
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		0.030 GeneticVariation group BEFREE These findings suggest that ISL1 genetic polymorphisms are associated with occurrence of VSD, thus they may be useful as molecular markers for prediction of VSD. 23572340 2013