SF3B4, splicing factor 3b subunit 4, 10262

N. diseases: 110; N. variants: 22
Disease: Nager 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: C0265245
Disease: Nager syndrome
Nager syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases Disease or Syndrome 6 23 0.800 strong 1.000 12 22 2012 2019