PAX8, paired box 8, 7849

N. diseases: 253; N. variants: 24
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 		0.700 GeneticVariation disease BEFREE These results indicate that loss of function mutations of the PAX8 gene may cause congenital hypothyroidism in the absence of thyroid hypoplasia. 15356023 2004
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.700 GeneticVariation disease BEFREE Here, we describe a novel mutation of PAX8 causing autosomal dominant transmission of CH with thyroid hypoplasia. 11232006 2001
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.700 GeneticVariation disease BEFREE Four girls with sporadic congenital hypothyroidism and hypoplastic thyroid glands were analyzed for mutations in PAX8 and TTF2 (FKHL15). 11502839 2001
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.700 GeneticVariation disease BEFREE In humans, mutations of the Pax8 gene, which are mapped to the coding region of the Prd domain, give rise to congenital hypothyroidism. 10377248 1999
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.700 Biomarker disease GENOMICS_ENGLAND PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis. 9590296 1998
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.700 GeneticVariation disease BEFREE PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis. 9590296 1998
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.700 Biomarker disease MGD
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.700 Biomarker disease HPO