PAX3, paired box 3, 5077

N. diseases: 257; N. variants: 62
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893653
rs104893653
Entrez Id: 5077;151278
Gene Symbol: PAX3;CCDC140
PAX3;CCDC140
CUI: C0079661
Disease:
Klein's Syndrome 		0.810 GeneticVariation UNIPROT Homozygous and heterozygous inheritance of PAX3 mutations causes different types of Waardenburg syndrome. 12949970 2003
dbSNP: rs104893653
rs104893653
Entrez Id: 5077;151278
Gene Symbol: PAX3;CCDC140
PAX3;CCDC140
CUI: C0079661
Disease:
Klein's Syndrome 		0.810 GeneticVariation BEFREE A previously described missense mutation in this same codon (Asn47His) is associated with Waardenburg syndrome type 3 (Hoth et al., 1993). 8664898 1996
dbSNP: rs104893653
rs104893653
Entrez Id: 5077;151278
Gene Symbol: PAX3;CCDC140
PAX3;CCDC140
CUI: C0079661
Disease:
Klein's Syndrome 		0.810 GeneticVariation UNIPROT Homozygosity for Waardenburg syndrome. 7726174 1995
dbSNP: rs104893653
rs104893653
Entrez Id: 5077;151278
Gene Symbol: PAX3;CCDC140
PAX3;CCDC140
CUI: C0079661
Disease:
Klein's Syndrome 		0.810 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: rs104893653
rs104893653
Entrez Id: 5077;151278
Gene Symbol: PAX3;CCDC140
PAX3;CCDC140
CUI: C0079661
Disease:
Klein's Syndrome 		G 0.810 CausalMutation CLINVAR
dbSNP: rs1419548558
rs1419548558
Entrez Id: 5077;151278
Gene Symbol: PAX3;CCDC140
PAX3;CCDC140
CUI: C1847800
Disease:
Waardenburg Syndrome Type 1 		G 0.800 GeneticVariation CLINVAR Waardenburg syndrome: Novel mutations in a large Brazilian sample. 29407415 2018
dbSNP: rs1419548558
rs1419548558
Entrez Id: 5077;151278
Gene Symbol: PAX3;CCDC140
PAX3;CCDC140
CUI: C1847800
Disease:
Waardenburg Syndrome Type 1 		A 0.800 GeneticVariation CLINVAR Waardenburg syndrome: Novel mutations in a large Brazilian sample. 29407415 2018
dbSNP: rs104893650
rs104893650
Entrez Id: 5077;151278
Gene Symbol: PAX3;CCDC140
PAX3;CCDC140
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: rs1228590199
rs1228590199
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 American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss. 24651602 2014
dbSNP: rs1419548558
rs1419548558
Entrez Id: 5077;151278
Gene Symbol: PAX3;CCDC140
PAX3;CCDC140
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: rs1553593928
rs1553593928
Entrez Id: 5077;151278
Gene Symbol: PAX3;CCDC140
PAX3;CCDC140
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: rs267606931
rs267606931
Entrez Id: 5077;151278
Gene Symbol: PAX3;CCDC140
PAX3;CCDC140
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: rs387906947
rs387906947
Entrez Id: 5077;151278
Gene Symbol: PAX3;CCDC140
PAX3;CCDC140
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: rs587776586
rs587776586
Entrez Id: 5077;151278
Gene Symbol: PAX3;CCDC140
PAX3;CCDC140
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: rs774528745
rs774528745
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: rs104893650
rs104893650
Entrez Id: 5077;151278
Gene Symbol: PAX3;CCDC140
PAX3;CCDC140
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: rs1228590199
rs1228590199
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 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: rs1553593928
rs1553593928
Entrez Id: 5077;151278
Gene Symbol: PAX3;CCDC140
PAX3;CCDC140
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: rs267606931
rs267606931
Entrez Id: 5077;151278
Gene Symbol: PAX3;CCDC140
PAX3;CCDC140
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: rs387906947
rs387906947
Entrez Id: 5077;151278
Gene Symbol: PAX3;CCDC140
PAX3;CCDC140
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: rs587776586
rs587776586
Entrez Id: 5077;151278
Gene Symbol: PAX3;CCDC140
PAX3;CCDC140
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: rs104893650
rs104893650
Entrez Id: 5077;151278
Gene Symbol: PAX3;CCDC140
PAX3;CCDC140
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: rs1228590199
rs1228590199
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