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: C0027651
Disease: Neoplasms
Neoplasms
0.040 GeneticVariation group BEFREE We examined the mRNA expression of C terminus-binding protein-interacting protein and Lin11, Isl-1, and Mec-3 domain only 4 (LMO4) in pretreatment tumor samples from 91 erlotinib-treated advanced non-small-cell lung cancer patients with EGFR mutations in whom breast cancer gene 1 (BRCA1) expression and the concomitant presence of the EGFR T790M mutation had previously been assessed. 23407556 2013
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.040 GeneticVariation disease BEFREE We examined the mRNA expression of C terminus-binding protein-interacting protein and Lin11, Isl-1, and Mec-3 domain only 4 (LMO4) in pretreatment tumor samples from 91 erlotinib-treated advanced non-small-cell lung cancer patients with EGFR mutations in whom breast cancer gene 1 (BRCA1) expression and the concomitant presence of the EGFR T790M mutation had previously been assessed. 23407556 2013
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
0.040 AlteredExpression disease BEFREE In the present study, we validated the ability of 14 commonly used real-time RT-PCR markers to detect MRD based on their expression in neuroblastoma TICs, and we developed a novel MRD detection protocol, which scored the samples as MRD-positive when the expression of one of the 11 real-time RT-PCR markers (CHRNA3, CRMP1, DBH, DCX, DDC, GABRB3, GAP43, ISL1, KIF1A, PHOX2B and TH) exceeded the normal range. 23417100 2013
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma
0.040 AlteredExpression disease BEFREE In the present study, we validated the ability of 14 commonly used real-time RT-PCR markers to detect MRD based on their expression in neuroblastoma TICs, and we developed a novel MRD detection protocol, which scored the samples as MRD-positive when the expression of one of the 11 real-time RT-PCR markers (CHRNA3, CRMP1, DBH, DCX, DDC, GABRB3, GAP43, ISL1, KIF1A, PHOX2B and TH) exceeded the normal range. 23417100 2013
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
Arrhythmogenic Right Ventricular Dysplasia
0.020 GeneticVariation disease BEFREE In this study we evaluated whether ISL1 variants are associated with hypertrophic (HCM), dilated (DCM), arrhythmogenic right ventricular cardiomyopathy (ARVC), or with Emery-Dreifuss muscular dystrophy (EDMD). 23152444 2013
CUI: C0410189
Disease: Muscular Dystrophy, Emery-Dreifuss
Muscular Dystrophy, Emery-Dreifuss
0.010 GeneticVariation disease BEFREE In this study we evaluated whether ISL1 variants are associated with hypertrophic (HCM), dilated (DCM), arrhythmogenic right ventricular cardiomyopathy (ARVC), or with Emery-Dreifuss muscular dystrophy (EDMD). 23152444 2013
Abnormality of cardiovascular system morphology
0.010 Biomarker disease BEFREE The LIM homeodomain transcriptor factor ISL1 is a marker for undifferentiated cardiac progenitor cells that give rise to both the right ventricle and the inflow and outflow tracts, which are affected by several cardiovascular malformations. 23229290 2013
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: 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: C0027651
Disease: Neoplasms
Neoplasms
0.040 Biomarker group BEFREE However, how ISL-1 exerts the role in tumor development is not clear. 25070240 2014
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.040 Biomarker group BEFREE Recent studies indicate that ISL-1 may also involve in the occurrence of a variety of tumors. 24845569 2014
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.030 GeneticVariation group BEFREE In the TOF patients, we found four copy number gains affecting three genes, of which two are important regulators of heart development (NOTCH1, ISL1) and one is located in a region associated with cardiac malformations (PRODH at 22q11). 24400131 2014
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: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.020 Biomarker phenotype BEFREE Further study revealed that ISL-1 promoted the proliferation of pancreatic β-cells and DLBCL cells, and also accelerated the tumorigenesis of DLBCL in vivo. 24845569 2014
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects
0.010 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: C0019829
Disease: Hodgkin Disease
Hodgkin Disease
0.010 AlteredExpression disease BEFREE Immunohistochemistry results demonstrated a markedly higher expression of ISL-1 in 75% of non-Hodgkin lymphoma (NHL) samples compared with that in normal lymph nodes or Hodgkin lymphoma (HL) samples. 25070240 2014
CUI: C0024299
Disease: Lymphoma
Lymphoma
0.010 AlteredExpression group BEFREE The results showed that ISL-1 overexpression obviously promoted NHL cells proliferation, changed the cell cycle distribution in vitro and significantly enhanced xenografted lymphoma development in vivo. 25070240 2014
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
Lymphoma, Non-Hodgkin
0.010 AlteredExpression disease BEFREE Real-time PCR, Western blot, luciferase assay and ChIP assay were used to explore the potential regulatory targets of ISL-1 and the results demonstrated that ISL-1 activated the c-Myc expression in NHL by direct binding to a conserved binding site on the c-Myc enhancer. 25070240 2014
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
Diffuse Large B-Cell Lymphoma
0.010 Biomarker disease BEFREE Taken together, our results demonstrate a positive feedback regulation of ISL-1 in DLBCL but not in pancreatic β-cells, which might result in the functional diversities of ISL-1 in different physiological and pathological processes. 24845569 2014
CUI: C0220597
Disease: Adult Hodgkin Lymphoma
Adult Hodgkin Lymphoma
0.010 AlteredExpression disease BEFREE Immunohistochemistry results demonstrated a markedly higher expression of ISL-1 in 75% of non-Hodgkin lymphoma (NHL) samples compared with that in normal lymph nodes or Hodgkin lymphoma (HL) samples. 25070240 2014
CUI: C0220605
Disease: Adult Non-Hodgkin Lymphoma
Adult Non-Hodgkin Lymphoma
0.010 AlteredExpression disease BEFREE ISL-1 is overexpressed in non-Hodgkin lymphoma and promotes lymphoma cell proliferation by forming a p-STAT3/p-c-Jun/ISL-1 complex. 25070240 2014
CUI: C0220612
Disease: Childhood Non-Hodgkin Lymphoma
Childhood Non-Hodgkin Lymphoma
0.010 AlteredExpression disease BEFREE ISL-1 is overexpressed in non-Hodgkin lymphoma and promotes lymphoma cell proliferation by forming a p-STAT3/p-c-Jun/ISL-1 complex. 25070240 2014
CUI: C0220644
Disease: Childhood Hodgkin Lymphoma
Childhood Hodgkin Lymphoma
0.010 AlteredExpression disease BEFREE Immunohistochemistry results demonstrated a markedly higher expression of ISL-1 in 75% of non-Hodgkin lymphoma (NHL) samples compared with that in normal lymph nodes or Hodgkin lymphoma (HL) samples. 25070240 2014
CUI: C1332206
Disease: Adult Lymphoma
Adult Lymphoma
0.010 AlteredExpression disease BEFREE The results showed that ISL-1 overexpression obviously promoted NHL cells proliferation, changed the cell cycle distribution in vitro and significantly enhanced xenografted lymphoma development in vivo. 25070240 2014