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: C0005689
Disease: Bladder Exstrophy
Bladder Exstrophy 		0.430 Biomarker disease BEFREE Islet-1 (ISL1), a member of the LIM/Homeobox family of transcription factors, has been identified as a major susceptibility gene for classic bladder exstrophy in humans, a common form of the bladder exstrophy-epispadias complex (BEEC), and is implicated in a role in urinary tract development. 29126155 2018
CUI: C0005689
Disease: Bladder Exstrophy
Bladder Exstrophy 		0.430 Biomarker disease BEFREE ISL1 is a major susceptibility gene for classic bladder exstrophy and a regulator of urinary tract development. 28176844 2017
CUI: C0005689
Disease: Bladder Exstrophy
Bladder Exstrophy 		0.430 Biomarker disease BEFREE Genome-wide association study and meta-analysis identify ISL1 as genome-wide significant susceptibility gene for bladder exstrophy. 25763902 2015
CUI: C0005689
Disease: Bladder Exstrophy
Bladder Exstrophy 		0.430 SusceptibilityMutation disease ORPHANET Genome-wide association study and meta-analysis identify ISL1 as genome-wide significant susceptibility gene for bladder exstrophy. 25763902 2015
CUI: C0005689
Disease: Bladder Exstrophy
Bladder Exstrophy 		0.430 Biomarker disease HPO
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.340 Biomarker disease BEFREE Regulatory elements controlling ASCL1 expression are bound by LMO1, MYCN and the transcription factors GATA3, HAND2, PHOX2B, TBX2 and ISL1-all members of the adrenergic (ADRN) neuroblastoma core regulatory circuitry (CRC). 31819055 2019
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.340 Biomarker disease CTD_human We then used genome-wide chromatin-immunoprecipitation coupled to high-throughput sequencing analysis to demonstrate that a small number of essential transcription factors-MYCN, HAND2, ISL1, PHOX2B, GATA3, and TBX2-are members of the transcriptional core regulatory circuitry (CRC) that maintains cell state in MYCN-amplified neuroblastoma. 30127528 2018
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.340 Biomarker disease BEFREE Our study revealed a temporal requirement for ISL1 in multiple aspects of sympathetic neuron development, and suggested Isl1 as a candidate gene for neuroblastoma. 29445148 2018
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.340 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: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.340 AlteredExpression disease BEFREE The transcription factor Isl-1, a protein expressed in subsets of neurons and endocrine cells as well as in neuroblastoma cells, was also expressed in the transplanted tumours, thus further verifying the retained phenotype of the cells under in vivo conditions. 8305241 1993
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.310 Biomarker disease BEFREE The postsynaptic density-95/discs large/zone occludens-1 (PDZ) domain and LIM (Lin-11, Isl-1, and Mec-3) domain 5 (PDLIM5) gene has been analyzed as a candidate gene for both schizophrenia and bipolar disorder (BP) in Japanese samples. 18496208 2008
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		0.300 Biomarker disease CTD_human Methylation of HOXA9 and ISL1 Predicts Patient Outcome in High-Grade Non-Invasive Bladder Cancer. 26332997 2015
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.300 Biomarker disease CTD_human Methylation of HOXA9 and ISL1 Predicts Patient Outcome in High-Grade Non-Invasive Bladder Cancer. 26332997 2015
CUI: C0027643
Disease: Neoplasm Recurrence, Local
Neoplasm Recurrence, Local 		0.300 Biomarker phenotype CTD_human Methylation of HOXA9 and ISL1 Predicts Patient Outcome in High-Grade Non-Invasive Bladder Cancer. 26332997 2015
CUI: C0014588
Disease: Epispadias
Epispadias 		0.100 Biomarker group HPO
CUI: C0015732
Disease: Fecal Incontinence
Fecal Incontinence 		0.100 Biomarker disease HPO
CUI: C0019294
Disease: Hernia, Inguinal
Hernia, Inguinal 		0.100 Biomarker phenotype HPO
CUI: C0042580
Disease: Vesico-Ureteral Reflux
Vesico-Ureteral Reflux 		0.100 Biomarker disease HPO
CUI: C0221210
Disease: Congenital malrotation of intestine
Congenital malrotation of intestine 		0.100 Biomarker disease HPO
CUI: C0262655
Disease: Recurrent urinary tract infection
Recurrent urinary tract infection 		0.100 Biomarker disease HPO
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis 		0.100 Biomarker disease HPO
CUI: C0795690
Disease: Congenital omphalocele
Congenital omphalocele 		0.100 Biomarker disease HPO
CUI: C1306503
Disease: Congenital exomphalos
Congenital exomphalos 		0.100 Biomarker disease HPO
CUI: C4025329
Disease: Abnormality of the anus
Abnormality of the anus 		0.100 Biomarker disease HPO
CUI: C4025893
Disease: Abnormality of the clitoris
Abnormality of the clitoris 		0.100 Biomarker disease HPO