PAX3, paired box 3, 5077

N. diseases: 257; N. variants: 62
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1852510
Disease: Craniofacial deafness hand syndrome
Craniofacial deafness hand syndrome
0.710 Biomarker disease GENOMICS_ENGLAND First report of Klein-Waardenburg Syndrome in Iran and a novel pathogenic splice site variant in PAX3 gene. 30173992 2018
CUI: C1852510
Disease: Craniofacial deafness hand syndrome
Craniofacial deafness hand syndrome
0.710 Biomarker disease CTD_human In addition, mutations in PAX3 have been found in WS type 3 that is distinguished by musculoskeletal abnormalities, and in a family with a rare subtype of WS, craniofacial-deafness-hand syndrome (CDHS), characterized by dysmorphic facial features, hand abnormalities, and absent or hypoplastic nasal and wrist bones. 18553554 2008
CUI: C1852510
Disease: Craniofacial deafness hand syndrome
Craniofacial deafness hand syndrome
0.710 Biomarker disease GENOMICS_ENGLAND Epistatic relationship between Waardenburg syndrome genes MITF and PAX3. 9500554 1998
CUI: C1852510
Disease: Craniofacial deafness hand syndrome
Craniofacial deafness hand syndrome
0.710 GeneticVariation disease UNIPROT Missense mutation in the paired domain of PAX3 causes craniofacial-deafness-hand syndrome. 8664898 1996
CUI: C1852510
Disease: Craniofacial deafness hand syndrome
Craniofacial deafness hand syndrome
0.710 GeneticVariation disease BEFREE Missense mutation in the paired domain of PAX3 causes craniofacial-deafness-hand syndrome. 8664898 1996
CUI: C1852510
Disease: Craniofacial deafness hand syndrome
Craniofacial deafness hand syndrome
0.710 GermlineCausalMutation disease ORPHANET Missense mutation in the paired domain of PAX3 causes craniofacial-deafness-hand syndrome. 8664898 1996
CUI: C1852510
Disease: Craniofacial deafness hand syndrome
Craniofacial deafness hand syndrome
0.710 Biomarker disease GENOMICS_ENGLAND Previously undescribed syndrome of craniofacial, hand anomalies, and sensorineural deafness. 6859126 1983
CUI: C1852510
Disease: Craniofacial deafness hand syndrome
Craniofacial deafness hand syndrome
0.710 Biomarker disease GENOMICS_ENGLAND
CUI: C1852510
Disease: Craniofacial deafness hand syndrome
Craniofacial deafness hand syndrome
0.710 Biomarker disease GENOMICS_ENGLAND
CUI: C1852510
Disease: Craniofacial deafness hand syndrome
Craniofacial deafness hand syndrome
0.710 CausalMutation disease CLINVAR