GLIS2, GLIS family zinc finger 2, 84662

N. diseases: 67; N. variants: 2
Disease: Nephronophthisis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		0.490 Biomarker disease BEFREE Herein, we show that the NF-κB signaling is active in Glis2 knockout kidney epithelial cells and that genetic inactivation of the toll-like receptor (TLR)/IL-1 receptor or pharmacologic elimination of senescent cells (senolytic therapy) reduces tubule damage, fibrosis, and apoptosis in the Glis2 mouse model of NPHP. 31676329 2020
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		0.490 Biomarker disease BEFREE GLIS2 plays a critical role in the kidney and GLIS2 dysfunction leads to nephronophthisis, an end-stage, cystic renal disease. 29779043 2018
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		0.490 GeneticVariation disease BEFREE The C175R mutation alters nuclear localization and transcriptional activity of the nephronophthisis NPHP7 gene product. 26374130 2016
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		0.490 AlteredExpression disease BEFREE Glis2/NPHP7 is a transcriptional regulator mutated in type 7 nephronophthisis, an autosomal recessive ciliopathy associated with cystic and fibrotic kidney disease as well as characteristic extrarenal manifestations. 26083374 2015
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		0.490 Biomarker disease GENOMICS_ENGLAND Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy. 23559409 2013
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		0.490 GeneticVariation disease BEFREE In humans, a mutation in the Glis2 gene has been linked to the development of nephronophthisis (NPHP), a recessive cystic kidney disease, while mutations in Glis3 lead to an extended multisystem phenotype that includes the development of neonatal diabetes, polycystic kidneys, congenital hypothyroidism, and facial dysmorphism. 22391303 2012
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		0.490 GeneticVariation disease BEFREE Mutations in GLIS2 are linked to nephronophthisis, a chronic kidney disease characterized by renal fibrosis and atrophy in children and young adults. 21127075 2011
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		0.490 GeneticVariation disease BEFREE Mutations in GLIS2 have been linked to nephronophthisis, an autosomal recessive cystic kidney disease. 20865670 2010
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		0.490 Biomarker disease GENOMICS_ENGLAND Our data demonstrate that a deficiency in Glis2 expression leads to tubular atrophy and progressive fibrosis, similar to nephronophthisis, that ultimately results in renal failure. 18227149 2008
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		0.490 AlteredExpression disease BEFREE Our data demonstrate that a deficiency in Glis2 expression leads to tubular atrophy and progressive fibrosis, similar to nephronophthisis, that ultimately results in renal failure. 18227149 2008
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		0.490 GeneticVariation disease BEFREE Thus, we identify Glis2 as a transcription factor mutated in NPHP and demonstrate its essential role for the maintenance of renal tissue architecture through prevention of apoptosis and fibrosis. 17618285 2007
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		0.490 Biomarker disease HPO
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		0.490 CausalMutation disease CLINVAR