TTF2, transcription termination factor 2, 8458

N. diseases: 19; N. variants: 0
Disease: Thyroid Agenesis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0749420
Disease: Thyroid Agenesis
Thyroid Agenesis 		0.020 GeneticVariation disease BEFREE A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis and cleft palate. 12165566 2002
CUI: C0749420
Disease: Thyroid Agenesis
Thyroid Agenesis 		0.020 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