TTF2, transcription termination factor 2, 8458

N. diseases: 19; N. variants: 0
Disease: Choanal Atresia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0008297
Disease: Choanal Atresia
Choanal Atresia 		0.010 GeneticVariation disease 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