Disease: Thyroid Agenesis ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Thyroid Agenesis
CUI: C0749420
Disease: Thyroid Agenesis
0.010 GeneticVariation BEFREE 11) is the human homologue of mouse TTF-2 (encoded by the Titf2 gene) and that two siblings with thyroid agenesis, cleft palate and choanal atresia are homozygous for a missense mutation (Ala65Val) within its forkhead domain. 9697705 1998