PAX3, paired box 3, 5077

N. diseases: 257; N. variants: 62
Disease: Waardenburg Syndrome Type 2 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2700265
Disease: Waardenburg Syndrome Type 2
Waardenburg Syndrome Type 2 		0.030 GeneticVariation disease BEFREE Heterozygous mutations of MITF and its transactivator gene PAX3 are associated with Waardenburg syndrome type II (WS2) and type I (WS1), respectively. 22320238 2013
CUI: C2700265
Disease: Waardenburg Syndrome Type 2
Waardenburg Syndrome Type 2 		0.030 GeneticVariation disease BEFREE Functional analysis of Waardenburg syndrome-associated PAX3 and SOX10 mutations: report of a dominant-negative SOX10 mutation in Waardenburg syndrome type II. 21965087 2012
CUI: C2700265
Disease: Waardenburg Syndrome Type 2
Waardenburg Syndrome Type 2 		0.030 GeneticVariation disease BEFREE A PAX3 polymorphism (T315K) in a family exhibiting Waardenburg Syndrome type 2. 9584079 1998