TTF2, transcription termination factor 2, 8458

N. diseases: 19; N. variants: 0
Disease: Cleft Palate ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.020 GeneticVariation disease BEFREE We performed a genetic analysis of the TTF-2 gene in 2 children with congenital hypothyroidism (CH) and cleft palate, 45 children with thyroid dysgenesis, 19 children with isolated cleft palate or cleft lip, 4 patients with thyroid hemiagenesis. 15320969 2004
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.020 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