PAX3, paired box 3, 5077

N. diseases: 257; N. variants: 62
Disease: Waardenburg Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.800 GeneticVariation disease BEFREE Germline mutations of the murine Pax3 and human PAX3 genes cause deficiencies in these developmental lineages and result in the Splotch phenotype and Waardenburg syndrome, respectively. 29730428 2018
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.800 GeneticVariation disease BEFREE Their mother carried the GJB2 c.109G > A homozygous mutation; however, neither the novel PAX3 c.592delG mutation, nor the Waardenburg syndrome phenotype, was observed in either parent. 29287868 2018
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.800 Biomarker disease CLINGEN A novel PAX3 mutation in a Korean patient with Waardenburg syndrome type 1 and unilateral branch retinal vein and artery occlusion: a case report. 30314436 2018
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.800 Biomarker disease CLINGEN This is the first report of genetically diagnosed case of WS PAX3 c.598C>T nonsense mutation in Chinese ethnic origin by WES and <i>in silico</i> functional prediction methods. 28690861 2017
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.800 GeneticVariation disease BEFREE The absence of PAX3 mutation in one patient WS1 highlights the fact that the clinical classification is sometimes insufficient to distinguish WS1 from other types WS hence the interest of sequencing the other WS genes in this patient. 29224756 2017
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.800 GeneticVariation disease BEFREE Mutations in PAX3 were associated with Waardenburg syndrome with strabismus. 28861346 2017
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.800 Biomarker disease BEFREE The C3H/HeN-Pax3<sup>Sp-Nag</sup> strain may be useful for analyzing the function of Pax3 as a new model of the human disease, Waardenburg Syndrome. 28381738 2017
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.800 Biomarker disease CLINGEN The C3H/HeN-Pax3<sup>Sp-Nag</sup> strain may be useful for analyzing the function of Pax3 as a new model of the human disease, Waardenburg Syndrome. 28381738 2017
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.800 Biomarker disease CLINGEN Dense mapping using interval markers narrowed the locus down to a 670-kbp region, containing four genes including Pax3, a gene known to be implicated in the types I and III Waardenburg syndrome. 28043919 2017
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.800 Biomarker disease BEFREE Dense mapping using interval markers narrowed the locus down to a 670-kbp region, containing four genes including Pax3, a gene known to be implicated in the types I and III Waardenburg syndrome. 28043919 2017
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.800 GeneticVariation disease BEFREE Mutation screening of six WS-associated genes detected PAX3 mutations in 6 (86%) of the 7 WS1 probands. 27759048 2016
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.800 Biomarker disease CLINGEN Mutation screening of six WS-associated genes detected PAX3 mutations in 6 (86%) of the 7 WS1 probands. 27759048 2016
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.800 GeneticVariation disease BEFREE Our results expand the spectrum of PAX3 mutations and may have implications for the genetic counseling of WS in Iran. 26275939 2015
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.800 Biomarker disease CLINGEN Many genes have been linked to WS, including PAX3, MITF, SNAI2, EDNRB, EDN3, and SOX10, and many additional genes have been associated with disorders with phenotypic overlap with WS. 25932447 2015
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.800 CausalMutation disease CLINVAR Molecular Etiology of Hereditary Single-Side Deafness: Its Association With Pigmentary Disorders and Waardenburg Syndrome. 26512583 2015
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.800 Biomarker disease BEFREE PAX3 haploinsufficiency is known to cause Waardenburg syndrome. 25928000 2015
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.800 Biomarker disease BEFREE Our findings suggest that PAX3 WS mutants interfere with the normal functions of PAX3 in a dominant negative manner, which is important to the understanding of the pathogenesis of Waardenburg syndrome. 26149688 2015
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.800 GeneticVariation disease BEFREE Identification of a Novel De Novo Variant in the PAX3 Gene in Waardenburg Syndrome by Diagnostic Exome Sequencing: The First Molecular Diagnosis in Korea. 25932447 2015
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.800 GeneticVariation disease BEFREE In this study, we reported a rare Waardenburg syndrome simplex family in which a pair of WS parents gave birth to a child with double heterozygous mutations of MITF and PAX3. 22320238 2013
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.800 GeneticVariation disease BEFREE We identified a novel missense c.788T>G mutation in PAX3 in a family with Waardenburg syndrome with intrafamilial phenotypic heterogeneity. 23378733 2013
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.800 GeneticVariation disease BEFREE Rare variants in PAX3 are known to cause Waardenburg syndrome, which involves deafness, pigmentary abnormalities, and facial characteristics including a broad nasal bridge. 22341974 2012
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.800 GeneticVariation disease BEFREE Recently, we identified some novel WS-associated mutations in PAX3 and SOX10 in a cohort of Chinese WS patients. 21965087 2012
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.800 Biomarker disease CLINGEN Identification of a novel nonsense mutation on the Pax3 gene in ENU-derived white belly spotting mice and its genetic interaction with c-Kit. 20095975 2010
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.800 GeneticVariation disease BEFREE The structure elucidates the role of serine 50 in selection of the CG sequence immediately 3' of the TAAT motif by PAX class homeodomains and provides insights into the molecular mechanisms by which certain Waardenburg syndrome-associated missense mutations could destabilize the fold of the PAX3 homeodomain whereas others could affect its interaction with DNA. 19199574 2009
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.800 Biomarker disease BEFREE Subnuclear localization and mobility are key indicators of PAX3 dysfunction in Waardenburg syndrome. 18325909 2008