PAX3, paired box 3, 5077

N. diseases: 257; N. variants: 62
Disease: Waardenburg Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.800 GeneticVariation disease BEFREE In this report we describe two mutations in the human PAX3 gene causing WS type I in two families. 8799378 1996
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.800 GeneticVariation disease BEFREE In this report, we describe two mutations in the human PAX3 gene that cause WS type I. 8019556 1994
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.800 GeneticVariation disease BEFREE In this study, we reported a rare Waardenburg syndrome simplex family in which a pair of WS parents gave birth to a child with double heterozygous mutations of MITF and PAX3. 22320238 2013
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.800 GeneticVariation disease BEFREE Known mutations in PAX3 are etiologically associated with Waardenburg syndrome and syndromic neural tube defects (NTDs). 17149730 2007
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.800 Biomarker disease CLINGEN Many genes have been linked to WS, including PAX3, MITF, SNAI2, EDNRB, EDN3, and SOX10, and many additional genes have been associated with disorders with phenotypic overlap with WS. 25932447 2015
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.800 CausalMutation disease CLINVAR Molecular Etiology of Hereditary Single-Side Deafness: Its Association With Pigmentary Disorders and Waardenburg Syndrome. 26512583 2015
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.800 GeneticVariation disease BEFREE Mutation in PAX3 causes Waardenburg syndrome, and craniofacial-deafness-hand syndrome. 18627422 2008
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.800 GeneticVariation disease BEFREE Mutation screening of six WS-associated genes detected PAX3 mutations in 6 (86%) of the 7 WS1 probands. 27759048 2016
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.800 Biomarker disease CLINGEN Mutation screening of six WS-associated genes detected PAX3 mutations in 6 (86%) of the 7 WS1 probands. 27759048 2016
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.800 GeneticVariation disease BEFREE Mutations in PAX3 were associated with Waardenburg syndrome with strabismus. 28861346 2017
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.800 GeneticVariation disease BEFREE Mutations in Pax-3 cause Waardenburg syndrome (WS) in humans and the mouse Splotch (Sp) phenotype. 9302254 1997
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.800 CausalMutation disease CLINVAR Mutations in PAX3 that cause Waardenburg syndrome type I: ten new mutations and review of the literature. 8533800 1995
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.800 Biomarker disease GENOMICS_ENGLAND 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
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.800 GeneticVariation disease BEFREE Our analyses suggest that genetic background in combination with certain PAX3 alleles may be important factors in the aetiology of deafness in WS. 9192262 1997
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.800 Biomarker disease BEFREE Our findings suggest that PAX3 WS mutants interfere with the normal functions of PAX3 in a dominant negative manner, which is important to the understanding of the pathogenesis of Waardenburg syndrome. 26149688 2015
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.800 GeneticVariation disease BEFREE Our results expand the spectrum of PAX3 mutations and may have implications for the genetic counseling of WS in Iran. 26275939 2015
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.800 Biomarker disease CLINGEN Pax3 functions at a nodal point in melanocyte stem cell differentiation. 15729346 2005
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.800 Biomarker disease CLINGEN Pigmentation PAX-ways: the role of Pax3 in melanogenesis, melanocyte stem cell maintenance, and disease. 18983540 2008
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.800 GeneticVariation disease BEFREE Point mutations in PAX3 have been identified in more than 90% of affected individuals with WS Type 1/WS Type 3. 17627390 2007
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.800 GeneticVariation disease LHGDN Point mutations in PAX3 have been identified in more than 90% of affected individuals with WS Type 1/WS Type 3. 17627390 2007
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.800 Biomarker disease BEFREE Presence of dystopia canthorum is indicative of WS type 1 and results from defects in the PAX3 gene, whereas normally located medial canthi is characteristic of type 2 WS (WS2) and is associated with defects in the microphthalmia-associated transcription factor (MIFT) gene. 9584079 1998
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.800 GeneticVariation disease BEFREE Rare variants in PAX3 are known to cause Waardenburg syndrome, which involves deafness, pigmentary abnormalities, and facial characteristics including a broad nasal bridge. 22341974 2012
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.800 GeneticVariation disease BEFREE Recently, we identified some novel WS-associated mutations in PAX3 and SOX10 in a cohort of Chinese WS patients. 21965087 2012
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.800 Biomarker disease CTD_human Sensorineural deafness, distinctive facial features, and abnormal cranial bones: a new variant of Waardenburg syndrome? 18553554 2008
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.800 GeneticVariation disease BEFREE Study of 14 WS type 1 (WS1) families yielded a maximum lod score of 27.81 at PAX3, theta f = 0.010, theta = 0.007 assuming homogeneity. 7590754 1995