GLI3, GLI family zinc finger 3, 2737

N. diseases: 400; N. variants: 73
Disease: Esophageal Atresia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0014850
Disease: Esophageal Atresia
Esophageal Atresia 		0.030 GeneticVariation disease BEFREE Whole exome sequencing identifies a mutation in EYA1 and GLI3 in a patient with branchio‑otic syndrome and esophageal atresia: Coincidence or a digenic mode of inheritance? 29257230 2018
CUI: C0014850
Disease: Esophageal Atresia
Esophageal Atresia 		0.030 GeneticVariation disease BEFREE Our finding is the first to link this GLI3 gene mutation with esophageal atresia in humans, which was previously suggested in an animal model. 24819706 2014
CUI: C0014850
Disease: Esophageal Atresia
Esophageal Atresia 		0.030 Biomarker disease BEFREE To our best knowledge this is the first study assessing copy number of GLI2 and GLI3 genes in patients with EA. 23442119 2014