PAX3, paired box 3, 5077

N. diseases: 257; N. variants: 62
Disease: Alport Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1567741
Disease: Alport Syndrome
Alport Syndrome 		0.010 GeneticVariation 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