Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5077
Gene Symbol: PAX3
PAX3
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
0.300 Biomarker CTD_human 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