PAX8, paired box 8, 7849

N. diseases: 253; N. variants: 24
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1869118
Disease: HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS
HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS 		0.710 Biomarker disease BEFREE The transcription factor paired box 8 (PAX8) was associated with type 2 congenital non-goitrous hypothyroidism (CHNG2), a clinical phenotype of congenital hypothyroidism (CH). 30888984 2019
CUI: C1869118
Disease: HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS
HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS 		0.710 GeneticVariation disease UNIPROT A novel mutation (Q40P) in PAX8 associated with congenital hypothyroidism and thyroid hypoplasia: evidence for phenotypic variability in mother and child. 11502839 2001
CUI: C1869118
Disease: HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS
HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS 		0.710 GeneticVariation disease UNIPROT Autosomal dominant transmission of congenital thyroid hypoplasia due to loss-of-function mutation of PAX8. 11232006 2001
CUI: C1869118
Disease: HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS
HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS 		0.710 Biomarker disease GENOMICS_ENGLAND Autosomal dominant transmission of congenital thyroid hypoplasia due to loss-of-function mutation of PAX8. 11232006 2001
CUI: C1869118
Disease: HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS
HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS 		0.710 Biomarker disease GENOMICS_ENGLAND PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis. 9590296 1998
CUI: C1869118
Disease: HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS
HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS 		0.710 GeneticVariation disease UNIPROT PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis. 9590296 1998
CUI: C1869118
Disease: HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS
HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS 		0.710 Biomarker disease CTD_human
CUI: C1869118
Disease: HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS
HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS 		0.710 CausalMutation disease CLINVAR
CUI: C1869118
Disease: HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS
HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS 		0.710 GeneticVariation disease CLINVAR
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.700 GeneticVariation disease BEFREE Thyroid-specific transcription factor PAX8 has an indispensable role in the thyroid gland development, which is evidenced by the facts that PAX8/Pax8 mutations cause congenital hypothyroidism in humans and mice. 30730849 2019
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.700 GeneticVariation disease BEFREE This study aimed to identify and characterize PAX8 mutations and explore the prevalence of its mutations in another cohort of CH. 30888984 2019
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.700 GeneticVariation disease BEFREE We aim to identify and characterize PAX8 mutations in a large cohort of congenital hypothyroidism(CH) from thyroid dysgenesis in Chinese population. 28060725 2017
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.700 Biomarker disease BEFREE Gene variants have been reported to be associated with congenital hypothyroidism (CH), the purpose of this study was to analyze the mutation spectrum and prevalence of 12 known causative genes (TSHR, PAX8, NKX2.1, NKX2.5, FOXE1, DUOX2, TG, TPO, GLIS3, NIS, SLC26A4 and DEHAL1) in CH in China. 28215547 2017
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.700 GeneticVariation disease BEFREE The objective of this study was to analyze the PAX8 gene in 32 children with congenital hypothyroidism due to thyroid dysgenesis for mutations, and to characterize the functional consequences of the mutations. 26495924 2016
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.700 GeneticVariation disease BEFREE A Novel Mutation (S54C) of the PAX8 Gene in a Family with Congenital Hypothyroidism and a High Proportion of Affected Individuals. 27207603 2016
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.700 GeneticVariation disease BEFREE The contribution of mutations in PAX8 gene in children with CH and dysgenetic thyroid glands still remains a subject of interest for researchers. 25720050 2015
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.700 GeneticVariation disease BEFREE All exons of the 11 known CH associated genes including PAX8 together with their exon-intron boundaries were screened by next-generation sequencing (NGS). 26362610 2015
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
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: C0151516
Disease: Thyroid Hypoplasia
Thyroid Hypoplasia 		0.700 GermlineCausalMutation disease ORPHANET 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: C0151516
Disease: Thyroid Hypoplasia
Thyroid Hypoplasia 		0.700 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: C0151516
Disease: Thyroid Hypoplasia
Thyroid Hypoplasia 		0.700 GeneticVariation disease BEFREE A new mutation in the promoter region of the PAX8 gene causes true congenital hypothyroidism with thyroid hypoplasia in a girl with Down's syndrome. 24499175 2014
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 GeneticVariation disease BEFREE It has remained unclear whether CH in PAX8 mutation carriers is caused by haploinsufficiency or a dominant negative mechanism. 22898500 2012