PAX3, paired box 3, 5077

N. diseases: 257; N. variants: 62
Disease: Waardenburg Anophthalmia Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0599973
Disease: Waardenburg Anophthalmia Syndrome
Waardenburg Anophthalmia Syndrome 		0.300 GermlineCausalMutation disease ORPHANET Homozygous and heterozygous inheritance of PAX3 mutations causes different types of Waardenburg syndrome. 12949970 2003
CUI: C0599973
Disease: Waardenburg Anophthalmia Syndrome
Waardenburg Anophthalmia Syndrome 		0.300 GermlineCausalMutation disease ORPHANET Homozygosity for Waardenburg syndrome. 7726174 1995
CUI: C0599973
Disease: Waardenburg Anophthalmia Syndrome
Waardenburg Anophthalmia Syndrome 		0.300 GermlineCausalMutation disease ORPHANET 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