TTF2, transcription termination factor 2, 8458

N. diseases: 19; N. variants: 0
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0339864
Disease: Bifid epiglottis
Bifid epiglottis
0.010 GeneticVariation disease 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