GLIS2, GLIS family zinc finger 2, 84662

N. diseases: 67; N. variants: 2
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1691228
Disease: Cystic Kidney Diseases
Cystic Kidney Diseases
0.040 Biomarker group BEFREE GLIS2 plays a critical role in the kidney and GLIS2 dysfunction leads to nephronophthisis, an end-stage, cystic renal disease. 29779043 2018
CUI: C1691228
Disease: Cystic Kidney Diseases
Cystic Kidney Diseases
0.040 Biomarker group 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: C1691228
Disease: Cystic Kidney Diseases
Cystic Kidney Diseases
0.040 GeneticVariation group 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: C1691228
Disease: Cystic Kidney Diseases
Cystic Kidney Diseases
0.040 Biomarker group BEFREE Glis2 and Glis3 proteins have been demonstrated to localize to the primary cilium, a signaling organelle that has been implicated in several pathologies, including cystic renal diseases. 20865670 2010