XYLT2, xylosyltransferase 2, 64132

N. diseases: 138; N. variants: 7
Disease: Spondyloocular Syndrome, Autosomal Recessive ×
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: C1853925
Disease: Spondyloocular Syndrome, Autosomal Recessive
Spondyloocular Syndrome, Autosomal Recessive 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases Disease or Syndrome 1 0.300 None 1.000 1 2015 2015