PAX8, paired box 8, 7849

N. diseases: 253; N. variants: 24
Disease: Hypothyroidism ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		0.200 Biomarker disease BEFREE Further studies will confirm the direct participation of PAX8 in gene target sequencing in a population of MRKH with hypothyroidism. 31731040 2019
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		0.200 Biomarker disease BEFREE Herein, we show, using wild-type and the Pax8 ablated model of hypothyroidism in mice, that hyperthyroidism and severe hypothyroidism are associated with an overall unhealthy status and shorter lifespan. 31518338 2019
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		0.200 Biomarker disease BEFREE In mouse, stronger effects were related to earlier exposure or specific genetic background such as either Pax8 or Nkx2-1 haploinsufficiency, both associated to hypothyroidism in humans. 30397221 2018
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		0.200 Biomarker disease BEFREE Previous studies indicate that Dnajc17 as a candidate modifier gene for hypothyroidism, since it is expressed in the thyroid bud, interacts with NKX2.1 and PAX8 and it has been associated to the hypothyroid phenotype in mice carrying a single Nkx2.1 and Pax8 genes (double heterozygous knock-out). 29159607 2018
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		0.200 Biomarker disease BEFREE This condition has been reported in mice with hypothyroidism associated with induced deficiency in paired box 8 and NK2 homeobox 1, sonic hedgehog, or T-box 1. 30283736 2018
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		0.200 GeneticVariation disease BEFREE A new heterozygous nucleotide substitution was detected in the PAX8 DNA-binding motif (c.397C/T, R133W) in the proband, affected by congenital hypothyroidism with thyroid hypoplasia, in his older sister, displaying a subclinical hypothyroidism associated with thyroid hypoplasia and thyroid nodules, in his father, affected by hypothyroidism with thyroid hypoplasia and thyroid nodules, and his first cousin as well, who revealed only a subclinical hypothyroidism. 25146893 2014
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		0.200 GeneticVariation disease BEFREE This review focuses on the genetics and phenomics of hypothyroidism and TD due to PAX8 and TTF1 mutations. 20302910 2010
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		0.200 GeneticVariation disease BEFREE Identification of a novel PAX8 mutation in a particular variant of non-congenital early-onset hypothyroidism indicates a key function of PAX8 in the postnatal growth and functional maintenance of the thyroid gland. 17468187 2007
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		0.200 GeneticVariation disease BEFREE To analyse the coding region of PAX8 in individuals with congenital (CH) or post neonatal hypothyroidism due to dysgenetic (TD) or eutopic thyroid glands. 17437516 2007
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		0.200 GeneticVariation disease LHGDN Identification of a novel PAX8 mutation in a particular variant of non-congenital early-onset hypothyroidism indicates a key function of PAX8 in the postnatal growth and functional maintenance of the thyroid gland. 17468187 2007
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		0.200 AlteredExpression disease BEFREE Because we demonstrated Pax8 expression not only in the uterine epithelium of mice but also in the human endometrium, it remains to be elucidated whether adequate development of the uterus may also be affected in congenital hypothyroid female patients with mutations in the Pax8 gene. 17082261 2007
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		0.200 Biomarker disease HPO