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 Biomarker disease MGD
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.700 Biomarker disease HPO
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 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 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 Analysis of the PAX8 gene in congenital hypothyroidism caused by different forms of thyroid dysgenesis in a father and daughter. 15301052 2004
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 Mutations in the paired domain transcription factor PAX8 are a rare cause of congenital hypothyroidism due to thyroid dysgenesis. 15718293 2005
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.700 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 		0.700 GeneticVariation disease BEFREE These findings confirm the contribution of mutations in the Pax8 gene to the etiology of thyroid dysgenesis with a variable penetrance, but also demonstrate the rare overall incidence in CH. 16763387 2006
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.700 GeneticVariation disease BEFREE PAX8 mutations in congenital hypothyroidism due to dysgenetic or orthotopic thyroid glands are rare.PAX8-T225M is probably a rare variant. 17437516 2007
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.700 GeneticVariation disease LHGDN PAX8 mutations in congenital hypothyroidism due to dysgenetic or orthotopic thyroid glands are rare.PAX8-T225M is probably a rare variant. 17437516 2007
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.700 GeneticVariation disease BEFREE Mutations in NKX2.1, NKX2.5, FOXE1 and PAX8 genes, encoding for transcription factors involved in the development of the thyroid gland, have been identified in a minority of patients with syndromic and non-syndromic congenital hypothyroidism (CH). 17468187 2007
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.700 GeneticVariation disease BEFREE Thyroid dysgenesis may be associated with mutations in the paired box transcription factor 8 (PAX8) gene and is characterized by congenital hypothyroidism transmitted in an autosomal dominant mode. 17980011 2008
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.700 GeneticVariation disease BEFREE In the present study we propose a method of detection of mutations in the thyrotropin receptor (TSHR) and in the paired box 8 (PAX8) genes that have been proved to be responsible for some forms of CH. 18294054 2007
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.700 GeneticVariation disease BEFREE This study was designed to define the prevalence of CH due to mutations of PAX8, NKX2-1 [encoding thyroid transcription factor (TTF)-1], FOXE1 (encoding TTF-2), and NKX2-5 among patients with permanent primary CH and in the general population in Japan. 20157192 2010
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.700 Biomarker disease BEFREE The PAX8 gene was sequenced in a mother and child both suffering from congenital hypothyroidism (CH) because of thyroid hypoplasia. 20718765 2010
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.700 GeneticVariation disease BEFREE The patient was a 40-yr-old female, whose two children had congenital hypothyroidism and an inactivating PAX8 mutation (p.K80_A84dup). 21976720 2011
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.700 GeneticVariation disease BEFREE It has remained unclear whether CH in PAX8 mutation carriers is caused by haploinsufficiency or a dominant negative mechanism. 22898500 2012
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.700 GeneticVariation disease BEFREE The objective of this study was to screen the PAX8 gene and the PAX2 gene in a family with six cases of CH spanning three generations and presenting urogenital malformations. 23647375 2013
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.700 AlteredExpression disease BEFREE The persistent CH in this patient with DS is likely to be attributable to the diminished PAX8 expression due to a new heterozygous mutation in the PAX8 promoter sequence. 24499175 2014
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.700 GeneticVariation disease BEFREE The aim of this study was to analyse the PAX8 gene sequence in several members of the same family in order to understand whether the variable phenotypic expression, ranging from congenital hypothyroidism with thyroid hypoplasia to mild subclinical hypothyroidism, could be associated to the genetic variant in the PAX8 gene, detected in the proband. 25146893 2014
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.700 GeneticVariation disease BEFREE To search for PAX8 mutations in a cohort of patients with congenital hypothyroidism (CH) and various types of thyroid gland defects. 25214233 2014