GLIS3, GLIS family zinc finger 3, 169792

N. diseases: 105; N. variants: 48
Disease: Neonatal diabetes mellitus ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus 		0.400 Biomarker disease BEFREE Loss of GLIS3 function in humans and mice leads to the development of several pathologies, including neonatal diabetes and congenital hypothyroidism, polycystic kidney disease, and infertility. 29779043 2018
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus 		0.400 GeneticVariation disease BEFREE GLIS3 mutations are associated with type 1, type 2, and neonatal diabetes, reflecting a key function for this gene in pancreatic β-cell biology. 29992946 2018
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus 		0.400 GeneticVariation disease BEFREE Defects in the human GLI-similar 3 (GLIS3) gene are reported to be a rare cause of congenital hypothyroidism (CH) and neonatal diabetes. 29146476 2018
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus 		0.400 GeneticVariation disease BEFREE We suggest that infants with neonatal diabetes associated with dysmorphism should be screened for GLIS3 gene mutations. 28253873 2017
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus 		0.400 GeneticVariation disease BEFREE Mutations in GLIS3 cause a neonatal diabetes syndrome, characterized by neonatal diabetes, congenital hypothyroidism and polycystic kidney. 27899417 2017
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus 		0.400 Biomarker disease BEFREE The association of permanent neonatal diabetes and congenital hypothyroidism was first reported in 2003 and subsequently led to the identification GLIS3 as the mutation responsible for this presentation. 28648506 2017
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus 		0.400 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: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus 		0.400 GeneticVariation disease BEFREE We also report the first case of a recessive GLIS3 mutation causing neonatal diabetes and congenital hypothyroidism in a child from a non-consanguineous pedigree, highlighting the importance of molecular genetic testing in any patient with this phenotype. 21139041 2011
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus 		0.400 Biomarker disease BEFREE Mutations in human GLIS3 have been implicated in a syndrome characterized by neonatal diabetes and congenital hypothyroidism (NDH) and in some patients accompanied by polycystic kidney disease, glaucoma, and liver fibrosis. 20865670 2010
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus 		0.400 GeneticVariation disease BEFREE GLIS3 mutations in humans lead to neonatal diabetes, hypothyroidism, and cystic kidney disease. 19481545 2009
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus 		0.400 Biomarker disease BEFREE The Krüppel-like zinc finger protein Gli-similar 3 (Glis3) plays a critical role in pancreatic development and has been implicated in a syndrome with neonatal diabetes and hypothyroidism (NDH). 18263616 2008
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus 		0.400 GeneticVariation disease BEFREE Mutations in GLIS3 are responsible for a rare syndrome with neonatal diabetes mellitus and congenital hypothyroidism. 16715098 2006
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus 		0.400 Biomarker disease GENOMICS_ENGLAND