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: C0749420
Disease: Thyroid Agenesis
Thyroid Agenesis
0.650 Biomarker GENOMICS_ENGLAND We identified and characterized the function of a new homozygous FOXE1 missense mutation (p.R73S) in a boy with a typical phenotype (athyreosis, cleft palate, and partial choanal atresia). 24219130

2014