PAX3, paired box 3, 5077

N. diseases: 257; N. variants: 62
Disease: Klein's Syndrome ×
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: rs104893651
rs104893651
Entrez Id: 5077;151278
Gene Symbol: PAX3;CCDC140
PAX3;CCDC140
CUI: C0079661
Disease:
Klein's Syndrome 		0.800 GeneticVariation UNIPROT Homozygous and heterozygous inheritance of PAX3 mutations causes different types of Waardenburg syndrome. 12949970 2003
dbSNP: rs104893654
rs104893654
Entrez Id: 5077;151278
Gene Symbol: PAX3;CCDC140
PAX3;CCDC140
CUI: C0079661
Disease:
Klein's Syndrome 		0.800 GeneticVariation UNIPROT Homozygous and heterozygous inheritance of PAX3 mutations causes different types of Waardenburg syndrome. 12949970 2003
dbSNP: rs104893651
rs104893651
Entrez Id: 5077;151278
Gene Symbol: PAX3;CCDC140
PAX3;CCDC140
CUI: C0079661
Disease:
Klein's Syndrome 		0.800 GeneticVariation UNIPROT Homozygosity for Waardenburg syndrome. 7726174 1995
dbSNP: rs104893654
rs104893654
Entrez Id: 5077;151278
Gene Symbol: PAX3;CCDC140
PAX3;CCDC140
CUI: C0079661
Disease:
Klein's Syndrome 		0.800 GeneticVariation UNIPROT Homozygosity for Waardenburg syndrome. 7726174 1995
dbSNP: rs104893651
rs104893651
Entrez Id: 5077;151278
Gene Symbol: PAX3;CCDC140
PAX3;CCDC140
CUI: C0079661
Disease:
Klein's Syndrome 		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: rs104893654
rs104893654
Entrez Id: 5077;151278
Gene Symbol: PAX3;CCDC140
PAX3;CCDC140
CUI: C0079661
Disease:
Klein's Syndrome 		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: rs104893651
rs104893651
Entrez Id: 5077;151278
Gene Symbol: PAX3;CCDC140
PAX3;CCDC140
CUI: C0079661
Disease:
Klein's Syndrome 		A 0.800 CausalMutation CLINVAR
dbSNP: rs104893654
rs104893654
Entrez Id: 5077;151278
Gene Symbol: PAX3;CCDC140
PAX3;CCDC140
CUI: C0079661
Disease:
Klein's Syndrome 		G 0.800 CausalMutation CLINVAR
dbSNP: rs1228590199
rs1228590199
Entrez Id: 5077;107985991
Gene Symbol: PAX3;LOC107985991
PAX3;LOC107985991
CUI: C0079661
Disease:
Klein's Syndrome 		0.700 GeneticVariation UNIPROT Homozygous and heterozygous inheritance of PAX3 mutations causes different types of Waardenburg syndrome. 12949970 2003
dbSNP: rs1228590199
rs1228590199
Entrez Id: 5077;107985991
Gene Symbol: PAX3;LOC107985991
PAX3;LOC107985991
CUI: C0079661
Disease:
Klein's Syndrome 		0.700 GeneticVariation UNIPROT Homozygosity for Waardenburg syndrome. 7726174 1995
dbSNP: rs1228590199
rs1228590199
Entrez Id: 5077;107985991
Gene Symbol: PAX3;LOC107985991
PAX3;LOC107985991
CUI: C0079661
Disease:
Klein's Syndrome 		0.700 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: rs1559318494
rs1559318494
Entrez Id: 5077
Gene Symbol: PAX3
PAX3
CUI: C0079661
Disease:
Klein's Syndrome 		G 0.700 CausalMutation CLINVAR