PAX3, paired box 3, 5077

N. diseases: 257; N. variants: 62
Disease: Klein's Syndrome ×
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0079661
Disease: Klein's Syndrome
Klein's Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 4 5 0.750 definitive 1.000 18 5 1993 2018