PAX3, paired box 3, 5077

N. diseases: 257; N. variants: 62
Disease: Hand deformities ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0018564
Disease: Hand deformities
Hand deformities 		0.010 GeneticVariation group BEFREE We have provided a 20-year follow-up of a syndrome characterized by craniofacial anomalies, hearing loss and hand deformities and which is caused by a PAX3 missense mutation. 14556253 2003