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 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 Biomarker disease BEFREE Genes responsible for syndromic forms of hearing loss include the COL4A5 gene in Alport syndrome and the PAX3 and MITF genes in Waardenburg syndrome. 8630497 1996
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.800 CausalMutation disease CLINVAR The mutational spectrum in Waardenburg syndrome. 8589691 1995
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 GeneticVariation disease BEFREE Based on the molecular defect of Splotch, an established mouse model for NTD, and on the clinical association between NTD and Waardenburg syndrome (WS), mutations in the PAX3 gene can be expected to act as factors predisposing to human NTD. 7897628 1995
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.800 GeneticVariation disease BEFREE A novel mutation of PAX3 in a Chinese family with Waardenburg syndrome. 16971891 2006
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.800 GeneticVariation disease BEFREE PAX3 gene structure and mutations: close analogies between Waardenburg syndrome and the Splotch mouse. 7981674 1994
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.800 Biomarker disease CLINGEN Identification of a novel nonsense mutation on the Pax3 gene in ENU-derived white belly spotting mice and its genetic interaction with c-Kit. 20095975 2010
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 GeneticVariation disease BEFREE Here we describe a further three PAX3 mutations which cause WS; one alters the octapeptide motif plus the presumed homeodomain; a second alters all three elements and the third alters the paired box alone. 8490648 1993
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.800 GeneticVariation disease BEFREE Germline mutations of the murine Pax3 and human PAX3 genes cause deficiencies in these developmental lineages and result in the Splotch phenotype and Waardenburg syndrome, respectively. 29730428 2018
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 An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome. 1347149 1992
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.800 Biomarker disease BEFREE Effects of Pax3 modifier genes on craniofacial morphology, pigmentation, and viability: a murine model of Waardenburg syndrome variation. 8786127 1996
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.800 GeneticVariation disease BEFREE Epistatic relationship between Waardenburg syndrome genes MITF and PAX3. 9500554 1998
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 Biomarker disease BEFREE Subnuclear localization and mobility are key indicators of PAX3 dysfunction in Waardenburg syndrome. 18325909 2008
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 CausalMutation disease 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
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 Biomarker disease BEFREE Evaluation of heterogeneity in location scores obtained by multilocus analysis indicated that WS is linked to PAX3 in 60% of all WS families and in 100% of WS1 families.None of the WS2 families were linked. 7942851 1994
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 Mutation in PAX3 causes Waardenburg syndrome, and craniofacial-deafness-hand syndrome. 18627422 2008
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.800 Biomarker disease CLINGEN This is the first report of genetically diagnosed case of WS PAX3 c.598C>T nonsense mutation in Chinese ethnic origin by WES and <i>in silico</i> functional prediction methods. 28690861 2017
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