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 HPO
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
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: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.040 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: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		0.040 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: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.070 GeneticVariation disease BEFREE The simple sequence repeat polymorphism at the Isl-1 locus was used to evaluate mutations in this gene as a possible contributor to the pathogenesis of NIDDM. 7912209 1994
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.070 Biomarker disease BEFREE To evaluate this gene in non-insulin-dependent diabetes mellitus (NIDDM), a full-length human Isl-1 cDNA was isolated and the genomic structure was characterized. 7789634 1995
CUI: C0028754
Disease: Obesity
Obesity 		0.020 GeneticVariation disease BEFREE Whether an obesity susceptibility gene (Isl-1 itself or another nearby gene) lies on chromosome 5q should be determined by further analyses. 10334320 1999
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.070 GeneticVariation disease BEFREE Although Isl-1 is not a common predisposing gene for Japanese type 2 diabetes, the mutation in this gene may be a rare cause of diabetes in isolated families. 10969846 2000
CUI: C0011847
Disease: Diabetes
Diabetes 		0.010 GeneticVariation disease BEFREE Although Isl-1 is not a common predisposing gene for Japanese type 2 diabetes, the mutation in this gene may be a rare cause of diabetes in isolated families. 10969846 2000
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.010 GeneticVariation group BEFREE Although Isl-1 is not a common predisposing gene for Japanese type 2 diabetes, the mutation in this gene may be a rare cause of diabetes in isolated families. 10969846 2000
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.070 GeneticVariation disease BEFREE However, in French Caucasian morbidly obese subjects, the Isl1-47A-->G SNP may modulate the risk for type 2 diabetes and may increase body weight in diabetic morbidly obese subjects. 11978668 2002
CUI: C0028754
Disease: Obesity
Obesity 		0.020 Biomarker disease BEFREE In obese families, this allele was not preferentially transmitted from heterozygous parents to their obese siblings, indicating that Isl-1 does not contribute to the linkage with obesity on 5cen-q. 11978668 2002
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.030 Biomarker group BEFREE Caudal dysgenesis in Islet-1 transgenic mice. 12738808 2003
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