Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2304
Gene Symbol: FOXE1
FOXE1
CUI: C1855794
Disease: Bamforth syndrome
Bamforth syndrome 		0.930 Biomarker GENOMICS_ENGLAND In vitro functional studies in HEK293 cells showed that this mutant gene enhanced the activity of the TG and TPO gene promoters (1.5-fold and 1.7-fold respectively vs. wild type FOXE1; p<0.05), unlike the five mutations previously reported in Bamforth-Lazarus syndrome. 24219130

2014
Entrez Id: 2304
Gene Symbol: FOXE1
FOXE1
CUI: C1855794
Disease: Bamforth syndrome
Bamforth syndrome 		0.930 Biomarker GENOMICS_ENGLAND Spectrum of Human Foxe1/TTF2 Mutations. 20453517

2010
Entrez Id: 2304
Gene Symbol: FOXE1
FOXE1
CUI: C1855794
Disease: Bamforth syndrome
Bamforth syndrome 		0.930 Biomarker GENOMICS_ENGLAND