ISL1, ISL LIM homeobox 1, 3670

N. diseases: 94; N. variants: 2
Disease: Bladder Exstrophy ×
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