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 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
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