FOXE1, forkhead box E1, 2304

N. diseases: 102; N. variants: 12
Disease: Congenital Hypothyroidism ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894110
rs104894110
Entrez Id: 2304;101928337
Gene Symbol: FOXE1;PTCSC2
FOXE1;PTCSC2
CUI: C0010308
Disease:
Congenital Hypothyroidism 		0.010 GeneticVariation BEFREE Such incomplete loss of TTF-2 function may account for the absence of choanal atresia and bifid epiglottis in our patients, anomalies which were present together with CH and cleft palate in two other individuals with the only other, more deleterious, TTF-2 mutation (A65V) described previously. 12165566 2002