Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 169792
Gene Symbol: GLIS3
GLIS3
0.500 GeneticVariation disease BEFREE Homozygous mutations in the GLIS3 gene have been typically associated with Neonatal Diabetes and Congenital Hypothyroidism (CH) in a syndrome called NDH. 31797737 2020
Entrez Id: 169792
Gene Symbol: GLIS3
GLIS3
0.500 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
Entrez Id: 169792
Gene Symbol: GLIS3
GLIS3
0.500 GeneticVariation disease BEFREE Mutation screening of the GLIS3 gene in a cohort of 592 Chinese patients with congenital hypothyroidism. 29146476 2018
Entrez Id: 169792
Gene Symbol: GLIS3
GLIS3
0.500 GeneticVariation disease BEFREE Gene variants have been reported to be associated with congenital hypothyroidism (CH), the purpose of this study was to analyze the mutation spectrum and prevalence of 12 known causative genes (TSHR, PAX8, NKX2.1, NKX2.5, FOXE1, DUOX2, TG, TPO, GLIS3, NIS, SLC26A4 and DEHAL1) in CH in China. 28215547 2017
Entrez Id: 169792
Gene Symbol: GLIS3
GLIS3
0.500 GeneticVariation disease BEFREE Mutations in the GLI-similar 3 (GLIS3) gene encoding the transcription factor GLIS3 are a rare cause of neonatal diabetes and congenital hypothyroidism with 12 reported patients to date. 28253873 2017
Entrez Id: 169792
Gene Symbol: GLIS3
GLIS3
0.500 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
Entrez Id: 169792
Gene Symbol: GLIS3
GLIS3
0.500 Biomarker disease BEFREE Deficiency in Krüppel-like zinc finger transcription factor GLI-similar 3 (GLIS3) in humans is associated with the development of congenital hypothyroidism. 29083325 2017
Entrez Id: 169792
Gene Symbol: GLIS3
GLIS3
0.500 GeneticVariation disease BEFREE The Glis3 mutant mice have been characterized for their propensity to develop congenital hypothyroidism, polycystic kidney disease, and some types of cancer. 28523428 2017
Entrez Id: 169792
Gene Symbol: GLIS3
GLIS3
0.500 GeneticVariation disease BEFREE We report the first case of a patient with a compound heterozygous mutation in GLIS3 who did not present with congenital hypothyroidism. 26259131 2015
Entrez Id: 169792
Gene Symbol: GLIS3
GLIS3
0.500 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
Entrez Id: 169792
Gene Symbol: GLIS3
GLIS3
0.500 GeneticVariation disease BEFREE Mutations in GLIS3 are responsible for a rare syndrome with neonatal diabetes mellitus and congenital hypothyroidism. 16715098 2006
Entrez Id: 169792
Gene Symbol: GLIS3
GLIS3
0.500 Biomarker disease GENOMICS_ENGLAND Mutations in GLIS3 are responsible for a rare syndrome with neonatal diabetes mellitus and congenital hypothyroidism. 16715098 2006
Entrez Id: 169792
Gene Symbol: GLIS3
GLIS3
0.500 Biomarker disease HPO