PAX3, paired box 3, 5077

N. diseases: 257; N. variants: 62
Disease: Waardenburg Syndrome Type 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1380858784
rs1380858784
Entrez Id: 5077;107985991
Gene Symbol: PAX3;LOC107985991
PAX3;LOC107985991
CUI: C1847800
Disease:
Waardenburg Syndrome Type 1 		0.800 GeneticVariation UNIPROT American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss. 24651602 2014
dbSNP: rs1380858784
rs1380858784
Entrez Id: 5077;107985991
Gene Symbol: PAX3;LOC107985991
PAX3;LOC107985991
CUI: C1847800
Disease:
Waardenburg Syndrome Type 1 		0.800 GeneticVariation 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
dbSNP: rs1380858784
rs1380858784
Entrez Id: 5077;107985991
Gene Symbol: PAX3;LOC107985991
PAX3;LOC107985991
CUI: C1847800
Disease:
Waardenburg Syndrome Type 1 		0.800 GeneticVariation UNIPROT Novel mutations of PAX3, MITF, and SOX10 genes in Chinese patients with type I or type II Waardenburg syndrome. 20478267 2010
dbSNP: rs1380858784
rs1380858784
Entrez Id: 5077;107985991
Gene Symbol: PAX3;LOC107985991
PAX3;LOC107985991
CUI: C1847800
Disease:
Waardenburg Syndrome Type 1 		0.800 GeneticVariation UNIPROT A novel mutation of PAX3 in a Chinese family with Waardenburg syndrome. 16971891 2006
dbSNP: rs1380858784
rs1380858784
Entrez Id: 5077;107985991
Gene Symbol: PAX3;LOC107985991
PAX3;LOC107985991
CUI: C1847800
Disease:
Waardenburg Syndrome Type 1 		0.800 GeneticVariation UNIPROT Homozygous and heterozygous inheritance of PAX3 mutations causes different types of Waardenburg syndrome. 12949970 2003
dbSNP: rs1380858784
rs1380858784
Entrez Id: 5077;107985991
Gene Symbol: PAX3;LOC107985991
PAX3;LOC107985991
CUI: C1847800
Disease:
Waardenburg Syndrome Type 1 		0.800 GeneticVariation UNIPROT Identification of a novel mutation in the paired domain of PAX3 in an Iranian family with waardenburg syndrome type I. 10779847 2000
dbSNP: rs1380858784
rs1380858784
Entrez Id: 5077;107985991
Gene Symbol: PAX3;LOC107985991
PAX3;LOC107985991
CUI: C1847800
Disease:
Waardenburg Syndrome Type 1 		0.800 GeneticVariation UNIPROT Identification of two PAX3 mutations causing Waardenburg syndrome, one within the paired domain (M62V) and the other downstream of the homeodomain (Q282X). 9452070 1998
dbSNP: rs1380858784
rs1380858784
Entrez Id: 5077;107985991
Gene Symbol: PAX3;LOC107985991
PAX3;LOC107985991
CUI: C1847800
Disease:
Waardenburg Syndrome Type 1 		0.800 GeneticVariation UNIPROT Septo-optic dysplasia and WS1 in the proband of a WS1 family segregating for a novel mutation in PAX3 exon 7. 9541113 1998
dbSNP: rs1380858784
rs1380858784
Entrez Id: 5077;107985991
Gene Symbol: PAX3;LOC107985991
PAX3;LOC107985991
CUI: C1847800
Disease:
Waardenburg Syndrome Type 1 		0.800 GeneticVariation UNIPROT Three novel PAX3 mutations observed in patients with Waardenburg syndrome type 1. 9067759 1997
dbSNP: rs1380858784
rs1380858784
Entrez Id: 5077;107985991
Gene Symbol: PAX3;LOC107985991
PAX3;LOC107985991
CUI: C1847800
Disease:
Waardenburg Syndrome Type 1 		0.800 GeneticVariation UNIPROT Phenotypic variation in Waardenburg syndrome: mutational heterogeneity, modifier genes or polygenic background? 8845842 1996
dbSNP: rs1380858784
rs1380858784
Entrez Id: 5077;107985991
Gene Symbol: PAX3;LOC107985991
PAX3;LOC107985991
CUI: C1847800
Disease:
Waardenburg Syndrome Type 1 		0.800 GeneticVariation UNIPROT The mutational spectrum in Waardenburg syndrome. 8589691 1995
dbSNP: rs1380858784
rs1380858784
Entrez Id: 5077;107985991
Gene Symbol: PAX3;LOC107985991
PAX3;LOC107985991
CUI: C1847800
Disease:
Waardenburg Syndrome Type 1 		0.800 GeneticVariation UNIPROT Mutations in PAX3 that cause Waardenburg syndrome type I: ten new mutations and review of the literature. 8533800 1995
dbSNP: rs1380858784
rs1380858784
Entrez Id: 5077;107985991
Gene Symbol: PAX3;LOC107985991
PAX3;LOC107985991
CUI: C1847800
Disease:
Waardenburg Syndrome Type 1 		0.800 GeneticVariation UNIPROT Further elucidation of the genomic structure of PAX3, and identification of two different point mutations within the PAX3 homeobox that cause Waardenburg syndrome type 1 in two families. 7825605 1995
dbSNP: rs1380858784
rs1380858784
Entrez Id: 5077;107985991
Gene Symbol: PAX3;LOC107985991
PAX3;LOC107985991
CUI: C1847800
Disease:
Waardenburg Syndrome Type 1 		0.800 GeneticVariation UNIPROT PAX3 gene structure and mutations: close analogies between Waardenburg syndrome and the Splotch mouse. 7981674 1994
dbSNP: rs1380858784
rs1380858784
Entrez Id: 5077;107985991
Gene Symbol: PAX3;LOC107985991
PAX3;LOC107985991
CUI: C1847800
Disease:
Waardenburg Syndrome Type 1 		0.800 GeneticVariation UNIPROT A single base pair substitution within the paired box of PAX3 in an individual with Waardenburg syndrome type 1 (WS1). 7833953 1994
dbSNP: rs1380858784
rs1380858784
Entrez Id: 5077;107985991
Gene Symbol: PAX3;LOC107985991
PAX3;LOC107985991
CUI: C1847800
Disease:
Waardenburg Syndrome Type 1 		0.800 GeneticVariation UNIPROT Mutations in the PAX3 gene causing Waardenburg syndrome type 1 and type 2. 8490648 1993
dbSNP: rs1380858784
rs1380858784
Entrez Id: 5077;107985991
Gene Symbol: PAX3;LOC107985991
PAX3;LOC107985991
CUI: C1847800
Disease:
Waardenburg Syndrome Type 1 		0.800 GeneticVariation UNIPROT Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I). 8447316 1993
dbSNP: rs1380858784
rs1380858784
Entrez Id: 5077;107985991
Gene Symbol: PAX3;LOC107985991
PAX3;LOC107985991
CUI: C1847800
Disease:
Waardenburg Syndrome Type 1 		0.800 GeneticVariation UNIPROT Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene. 1347148 1992
dbSNP: rs1380858784
rs1380858784
Entrez Id: 5077;107985991
Gene Symbol: PAX3;LOC107985991
PAX3;LOC107985991
CUI: C1847800
Disease:
Waardenburg Syndrome Type 1 		0.800 GeneticVariation UNIPROT An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome. 1347149 1992
dbSNP: rs1380858784
rs1380858784
Entrez Id: 5077;107985991
Gene Symbol: PAX3;LOC107985991
PAX3;LOC107985991
CUI: C1847800
Disease:
Waardenburg Syndrome Type 1 		0.800 GeneticVariation UNIPROT A frameshift mutation in the HuP2 paired domain of the probable human homolog of murine Pax-3 is responsible for Waardenburg syndrome type 1 in an Indonesian family. 1303193 1992
dbSNP: rs1380858784
rs1380858784
Entrez Id: 5077;107985991
Gene Symbol: PAX3;LOC107985991
PAX3;LOC107985991
CUI: C1847800
Disease:
Waardenburg Syndrome Type 1 		A 0.800 CausalMutation CLINVAR