GLIS3, GLIS family zinc finger 3, 169792

N. diseases: 105; N. variants: 48
Disease: Fibrosis, Liver ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		0.420 AlteredExpression disease BEFREE Given the role of GLIS3 in transcriptional activation and repression during embryogenesis, in humans, GLIS3 mutations present with multisystem involvement that also includes renal cystic dysplasia, progressive liver fibrosis and osteopenia. 28648506 2017
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		0.420 GeneticVariation 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: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		0.420 Biomarker disease GENOMICS_ENGLAND Mutations in GLIS3 are responsible for a rare syndrome with neonatal diabetes mellitus and congenital hypothyroidism. 16715098 2006
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		0.420 Biomarker disease HPO