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 Biomarker disease GENOMICS_ENGLAND
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 GeneticVariation disease BEFREE PAX3 gene structure and mutations: close analogies between Waardenburg syndrome and the Splotch mouse. 7981674 1994
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.800 GeneticVariation disease BEFREE A novel mutation of PAX3 in a Chinese family with Waardenburg syndrome. 16971891 2006
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 GeneticVariation disease BEFREE An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome. 1347149 1992
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.800 Biomarker disease CLINGEN Based on the molecular defect of Splotch, an established mouse model for NTD, and on the clinical association between NTD and Waardenburg syndrome (WS), mutations in the PAX3 gene can be expected to act as factors predisposing to human NTD. 7897628 1995
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.800 GeneticVariation disease BEFREE Based on the molecular defect of Splotch, an established mouse model for NTD, and on the clinical association between NTD and Waardenburg syndrome (WS), mutations in the PAX3 gene can be expected to act as factors predisposing to human NTD. 7897628 1995
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.800 GeneticVariation disease BEFREE Correlation between Waardenburg syndrome phenotype and genotype in a population of individuals with identified PAX3 mutations. 9654197 1998
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.800 CausalMutation disease CLINVAR Correlation between Waardenburg syndrome phenotype and genotype in a population of individuals with identified PAX3 mutations. 9654197 1998
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 Biomarker disease BEFREE Effects of Pax3 modifier genes on craniofacial morphology, pigmentation, and viability: a murine model of Waardenburg syndrome variation. 8786127 1996
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.800 GeneticVariation disease BEFREE Epistatic relationship between Waardenburg syndrome genes MITF and PAX3. 9500554 1998
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.800 Biomarker disease BEFREE Evaluation of heterogeneity in location scores obtained by multilocus analysis indicated that WS is linked to PAX3 in 60% of all WS families and in 100% of WS1 families.None of the WS2 families were linked. 7942851 1994
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.800 Biomarker disease BEFREE Genes responsible for syndromic forms of hearing loss include the COL4A5 gene in Alport syndrome and the PAX3 and MITF genes in Waardenburg syndrome. 8630497 1996
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.800 GeneticVariation disease BEFREE Genomic DNA from probands of various Waardenburg syndrome (WS) families were PCR-amplified using primers flanking the 8 exons of PAX3. 9017978 1997
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 Here we describe a further three PAX3 mutations which cause WS; one alters the octapeptide motif plus the presumed homeodomain; a second alters all three elements and the third alters the paired box alone. 8490648 1993
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.800 GeneticVariation disease BEFREE Here we show that some families with WS have mutations in the human homologue of Pax-3. 1347148 1992
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.800 GeneticVariation disease BEFREE Here, we demonstrate that PAX3, which is often mutated in Waardenburg syndrome, is required for normal enteric ganglia formation. 11032856 2000
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.800 GeneticVariation disease BEFREE Homozygous and heterozygous inheritance of PAX3 mutations causes different types of Waardenburg syndrome. 12949970 2003
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 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 In the human paired box-containing (PAX) gene family, only two members, PAX-3 and PAX-6, which are associated with Waardenburg's syndrome and aniridia, respectively have been mapped to human chromosomes. 7981748 1993