PAX3, paired box 3, 5077

N. diseases: 257; N. variants: 62
Disease: Klein's Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0079661
Disease: Klein's Syndrome
Klein's Syndrome 		0.750 Biomarker disease CLINGEN A novel PAX3 mutation in a Korean patient with Waardenburg syndrome type 1 and unilateral branch retinal vein and artery occlusion: a case report. 30314436 2018
CUI: C0079661
Disease: Klein's Syndrome
Klein's Syndrome 		0.750 GeneticVariation disease BEFREE Loss of function mutations in PAX3 gene cause WS1 and WS3 (Klein-Waardenburg syndrome). 30173992 2018
CUI: C0079661
Disease: Klein's Syndrome
Klein's Syndrome 		0.750 Biomarker disease GENOMICS_ENGLAND Loss of function mutations in PAX3 gene cause WS1 and WS3 (Klein-Waardenburg syndrome). 30173992 2018
CUI: C0079661
Disease: Klein's Syndrome
Klein's Syndrome 		0.750 Biomarker disease CLINGEN Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family. 28690861 2017
CUI: C0079661
Disease: Klein's Syndrome
Klein's Syndrome 		0.750 Biomarker disease CLINGEN A new missense mutation in the paired domain of the mouse Pax3 gene. 28381738 2017
CUI: C0079661
Disease: Klein's Syndrome
Klein's Syndrome 		0.750 Biomarker disease CLINGEN A spontaneous and novel Pax3 mutant mouse that models Waardenburg syndrome and neural tube defects. 28043919 2017
CUI: C0079661
Disease: Klein's Syndrome
Klein's Syndrome 		0.750 Biomarker disease CLINGEN Molecular etiology and genotype-phenotype correlation of Chinese Han deaf patients with type I and type II Waardenburg Syndrome. 27759048 2016
CUI: C0079661
Disease: Klein's Syndrome
Klein's Syndrome 		0.750 Biomarker disease CLINGEN Identification of a Novel De Novo Variant in the PAX3 Gene in Waardenburg Syndrome by Diagnostic Exome Sequencing: The First Molecular Diagnosis in Korea. 25932447 2015
CUI: C0079661
Disease: Klein's Syndrome
Klein's Syndrome 		0.750 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: C0079661
Disease: Klein's Syndrome
Klein's Syndrome 		0.750 Biomarker disease CLINGEN Pigmentation PAX-ways: the role of Pax3 in melanogenesis, melanocyte stem cell maintenance, and disease. 18983540 2008
CUI: C0079661
Disease: Klein's Syndrome
Klein's Syndrome 		0.750 Biomarker disease CTD_human Sensorineural deafness, distinctive facial features, and abnormal cranial bones: a new variant of Waardenburg syndrome? 18553554 2008
CUI: C0079661
Disease: Klein's Syndrome
Klein's Syndrome 		0.750 Biomarker disease CLINGEN Pax3 functions at a nodal point in melanocyte stem cell differentiation. 15729346 2005
CUI: C0079661
Disease: Klein's Syndrome
Klein's Syndrome 		0.750 GermlineCausalMutation disease ORPHANET This is the third report of a homozygous PAX3 mutation causing the WS-III phenotype. 12949970 2003
CUI: C0079661
Disease: Klein's Syndrome
Klein's Syndrome 		0.750 GeneticVariation disease BEFREE This is the third report of a homozygous PAX3 mutation causing the WS-III phenotype. 12949970 2003
CUI: C0079661
Disease: Klein's Syndrome
Klein's Syndrome 		0.750 GeneticVariation disease UNIPROT This is the third report of a homozygous PAX3 mutation causing the WS-III phenotype. 12949970 2003
CUI: C0079661
Disease: Klein's Syndrome
Klein's Syndrome 		0.750 GeneticVariation disease BEFREE Waardenburg syndrome type 3 (Klein-Waardenburg syndrome) segregating with a heterozygous deletion in the paired box domain of PAX3: a simple variant or a true syndrome? 11683776 2001
CUI: C0079661
Disease: Klein's Syndrome
Klein's Syndrome 		0.750 Biomarker disease GENOMICS_ENGLAND Epistatic relationship between Waardenburg syndrome genes MITF and PAX3. 9500554 1998
CUI: C0079661
Disease: Klein's Syndrome
Klein's Syndrome 		0.750 GeneticVariation disease BEFREE Myelomeningocele and Waardenburg syndrome (type 3) in patients with interstitial deletions of 2q35 and the PAX3 gene: possible digenic inheritance of a neural tube defect. 9482647 1998
CUI: C0079661
Disease: Klein's Syndrome
Klein's Syndrome 		0.750 Biomarker disease CLINGEN A frameshift mutation in the gene for PAX3 in a girl with spina bifida and mild signs of Waardenburg syndrome. 7897628 1995
CUI: C0079661
Disease: Klein's Syndrome
Klein's Syndrome 		0.750 GeneticVariation disease UNIPROT Homozygosity for Waardenburg syndrome. 7726174 1995
CUI: C0079661
Disease: Klein's Syndrome
Klein's Syndrome 		0.750 GermlineCausalMutation disease ORPHANET Homozygosity for Waardenburg syndrome. 7726174 1995
CUI: C0079661
Disease: Klein's Syndrome
Klein's Syndrome 		0.750 GeneticVariation disease UNIPROT The results indicate that mutations in the PAX3 gene can cause both WS-I and WS-III. 8447316 1993
CUI: C0079661
Disease: Klein's Syndrome
Klein's Syndrome 		0.750 GermlineCausalMutation disease ORPHANET The results indicate that mutations in the PAX3 gene can cause both WS-I and WS-III. 8447316 1993
CUI: C0079661
Disease: Klein's Syndrome
Klein's Syndrome 		0.750 GeneticVariation disease BEFREE The results indicate that mutations in the PAX3 gene can cause both WS-I and WS-III. 8447316 1993
CUI: C0079661
Disease: Klein's Syndrome
Klein's Syndrome 		0.750 Biomarker disease GENOMICS_ENGLAND The results indicate that mutations in the PAX3 gene can cause both WS-I and WS-III. 8447316 1993