EXT1, exostosin glycosyltransferase 1, 2131

N. diseases: 205; N. variants: 63
Disease: Hereditary Multiple Exostoses ×
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: C0015306
Disease: Hereditary Multiple Exostoses
Hereditary Multiple Exostoses 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases Congenital Abnormality 32 51 1.000 definitive 0.977 130 50 1989 2019