TTF2, transcription termination factor 2, 8458

N. diseases: 19; N. variants: 0
Disease: Congenital Hypothyroidism ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.030 Biomarker disease BEFREE Genes associated with thyroid gland dysgenesis include the TSH receptor in non-syndromic congenital hypothyroidism, and Gsalpha and the thyroid transcription factors (TTF-1, TTF-2, and Pax-8), associated with different complex syndromes that include congenital hypothyroidism. 15863666 2005
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.030 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: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.030 Biomarker disease BEFREE Our observations support the role of TTF-2 in both thyroid and palate development but suggest phenotypic heterogeneity of this syndromic form of CH. 12165566 2002