Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5077
Gene Symbol: PAX3
PAX3 		1.000 GeneticVariation disease UNIPROT The mutational spectrum in Waardenburg syndrome. 8589691 1995
Entrez Id: 5077
Gene Symbol: PAX3
PAX3 		1.000 GeneticVariation disease BEFREE We have identified 11 mutational changes in the PAX3 gene in patients with type 1 Waardenburg syndrome (WS1) including three in the paired domain, six within or immediately adjacent to the homeodomain and two previously described polymorphic variants in exons 2 and 6. 8845842 1996
Entrez Id: 5077
Gene Symbol: PAX3
PAX3 		1.000 GeneticVariation disease UNIPROT An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome. 1347149 1992
Entrez Id: 5077
Gene Symbol: PAX3
PAX3 		1.000 CausalMutation disease CLINVAR
Entrez Id: 5077
Gene Symbol: PAX3
PAX3 		1.000 GeneticVariation disease BEFREE Waardenburg syndrome type 1 is caused by mutations in PAX3. 8786127 1996
Entrez Id: 5077
Gene Symbol: PAX3
PAX3 		1.000 GeneticVariation disease BEFREE Identification of a novel mutation in the paired domain of PAX3 in an Iranian family with waardenburg syndrome type I. 10779847 2000
Entrez Id: 5077
Gene Symbol: PAX3
PAX3 		1.000 GeneticVariation disease BEFREE Haplotype analysis placed the WS1 locus to a 45.74 cM region between D2S117 and D2S206, in close proximity to the PAX3 gene on chromosome 2q35. 16971891 2006
Entrez Id: 5077
Gene Symbol: PAX3
PAX3 		1.000 GeneticVariation disease BEFREE Novel PAX3 mutations causing Waardenburg syndrome type 1 in Tunisian patients. 29224756 2017
Entrez Id: 5077
Gene Symbol: PAX3
PAX3 		1.000 Biomarker disease CLINGEN Pigmentation PAX-ways: the role of Pax3 in melanogenesis, melanocyte stem cell maintenance, and disease. 18983540 2008
Entrez Id: 5077
Gene Symbol: PAX3
PAX3 		1.000 Biomarker disease GENOMICS_ENGLAND First report of Klein-Waardenburg Syndrome in Iran and a novel pathogenic splice site variant in PAX3 gene. 30173992 2018
Entrez Id: 5077
Gene Symbol: PAX3
PAX3 		1.000 GeneticVariation disease BEFREE Our findings expand the frequency and spectrum of PAX3 mutations and ethnic-related phenotypes in Chinese patients with WS1. 20664692 2010
Entrez Id: 5077
Gene Symbol: PAX3
PAX3 		1.000 GeneticVariation disease UNIPROT Functional analysis of Waardenburg syndrome-associated PAX3 and SOX10 mutations: report of a dominant-negative SOX10 mutation in Waardenburg syndrome type II. 21965087 2012
Entrez Id: 5077
Gene Symbol: PAX3
PAX3 		1.000 GeneticVariation disease BEFREE Mutations in the PAX3 gene causing Waardenburg syndrome type 1 and type 2. 8490648 1993
Entrez Id: 5077
Gene Symbol: PAX3
PAX3 		1.000 Biomarker disease CLINGEN 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
Entrez Id: 5077
Gene Symbol: PAX3
PAX3 		1.000 GeneticVariation disease BEFREE The RET and the Pax 3 genes have recently been shown to account for autosomal dominant Hirschsprung's disease (HSCR) and Waardenburg syndrome type 1 (WS1) respectively, which led us to consider them as candidate genes in the WS/HSCR association. 7643365 1995
Entrez Id: 5077
Gene Symbol: PAX3
PAX3 		1.000 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 5077
Gene Symbol: PAX3
PAX3 		1.000 GeneticVariation disease UNIPROT Three novel PAX3 mutations observed in patients with Waardenburg syndrome type 1. 9067759 1997
Entrez Id: 5077
Gene Symbol: PAX3
PAX3 		1.000 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
Entrez Id: 5077
Gene Symbol: PAX3
PAX3 		1.000 GeneticVariation disease BEFREE A novel mutation in the PAX3 gene causes Waardenburg syndrome type I in an Iranian family. 26279250 2015
Entrez Id: 5077
Gene Symbol: PAX3
PAX3 		1.000 GeneticVariation disease BEFREE These previously unreported digenic mutations in PAX3/GJB2 resulted in deafness associated with Waardenburg syndrome type I in this family. 29287868 2018
Entrez Id: 5077
Gene Symbol: PAX3
PAX3 		1.000 GeneticVariation disease BEFREE The aim of this study was to describe the pattern of inheritance and the clinical features in a large family with Waardenburg syndrome type I (WS1), detailing the dental abnormalities and screening for PAX3 mutations. 27031059 2016
Entrez Id: 5077
Gene Symbol: PAX3
PAX3 		1.000 Biomarker disease CLINGEN Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family. 28690861 2017
Entrez Id: 5077
Gene Symbol: PAX3
PAX3 		1.000 GeneticVariation disease UNIPROT Homozygous and heterozygous inheritance of PAX3 mutations causes different types of Waardenburg syndrome. 12949970 2003
Entrez Id: 5077
Gene Symbol: PAX3
PAX3 		1.000 Biomarker disease GENOMICS_ENGLAND Epistatic relationship between Waardenburg syndrome genes MITF and PAX3. 9500554 1998
Entrez Id: 5077
Gene Symbol: PAX3
PAX3 		1.000 Biomarker disease GENOMICS_ENGLAND Previously undescribed syndrome of craniofacial, hand anomalies, and sensorineural deafness. 6859126 1983