PAX3, paired box 3, 5077

N. diseases: 257; N. variants: 62
Disease: Waardenburg Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs876657717
rs876657717
Entrez Id: 5077
Gene Symbol: PAX3
PAX3
CUI: C3266898
Disease:
Waardenburg Syndrome 		T 0.700 CausalMutation CLINVAR Molecular Etiology of Hereditary Single-Side Deafness: Its Association With Pigmentary Disorders and Waardenburg Syndrome. 26512583 2015
dbSNP: rs876657717
rs876657717
Entrez Id: 5077
Gene Symbol: PAX3
PAX3
CUI: C3266898
Disease:
Waardenburg Syndrome 		T 0.700 CausalMutation CLINVAR Correlation between Waardenburg syndrome phenotype and genotype in a population of individuals with identified PAX3 mutations. 9654197 1998
dbSNP: rs876657717
rs876657717
Entrez Id: 5077
Gene Symbol: PAX3
PAX3
CUI: C3266898
Disease:
Waardenburg Syndrome 		T 0.700 CausalMutation CLINVAR Waardenburg syndrome (WS) type I is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: first report of the WS consortium. 1349198 1992