GLIS2, GLIS family zinc finger 2, 84662

N. diseases: 67; N. variants: 2
Disease: Congenital cystic kidney disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0311245
Disease: Congenital cystic kidney disease
Congenital cystic kidney disease 		0.020 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: C0311245
Disease: Congenital cystic kidney disease
Congenital cystic kidney disease 		0.020 Biomarker disease BEFREE Loss of Glis2/NPHP7 causes kidney epithelial cell senescence and suppresses cyst growth in the Kif3a mouse model of cystic kidney disease. 27181777 2016