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 Biomarker disease GENOMICS_ENGLAND
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 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 GeneticVariation disease BEFREE Here we show that some families with WS have mutations in the human homologue of Pax-3. 1347148 1992
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 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 We have determined that PAX3 (found previously to be mutated in Waardenburg syndrome) is the chromosome 2 locus rearranged by the t(2;13)(q35;q14) translocation of the paediatric solid tumour alveolar rhabdomyosarcoma. 8098985 1993
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.800 GeneticVariation disease BEFREE In the human paired box-containing (PAX) gene family, only two members, PAX-3 and PAX-6, which are associated with Waardenburg's syndrome and aniridia, respectively have been mapped to human chromosomes. 7981748 1993
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.800 GeneticVariation disease BEFREE Thus, our FISH mapping results confirm the conclusions from previous linkage analysis and support the conclusion that mutation of the PAX3 gene can cause Waardenburg syndrome. 8449034 1993
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 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 We have examined the following possible linked markers in 69 relatives in this family: the c-ret gene (HSCR); the human PAX3 gene (HuP2) on chromosome 2q (WS1) and placental alkaline phosphatase (ALPP) on chromosome 2q (linked to WS1); argininosuccinate synthetase (ASS) on chromosome 9q, close to ABO blood groups which have shown weak linkage to WS; and the beta 1 GABA receptor gene (GABARB1) on chromosome 4q13-11, close to c-kit, deletions of which cause piebaldism. 7802041 1994
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 CausalMutation disease CLINVAR The mutational spectrum in Waardenburg syndrome. 8589691 1995
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 We conclude that Type 1 and Type 3 WS are allelic and are normally caused by loss of function mutations in PAX3; that Type 2 WS is heterogeneous, with about 20% of cases caused by mutations in MITF, and that individuals with auditory, pigmentary or neural crest syndromes which do not fit stringent definitions of Waardenburg syndrome are unlikely to have mutations in either the PAX3 or MITF genes. 8589691 1995
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.800 GeneticVariation disease BEFREE This work establishes the complete structure of PAX3 and will permit high-resolution analyses of this locus for mutations associated with Waardenburg syndrome, alveolar rhabdomyosarcoma, and other phenotypes for which PAX3 may be a candidate locus. 7782066 1995
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 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
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.800 Biomarker disease CLINGEN 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 These mutations, together with those previously reported, cover essentially the entire PAX3 gene and represent a wide spectrum of mutations that can cause WS type I. 8533800 1995
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 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 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 CausalMutation disease CLINVAR Three mutations in the paired homeodomain of PAX3 that cause Waardenburg syndrome type 1. 9017978 1997