PSEN1, presenilin 1, 5663

N. diseases: 369; N. variants: 155
Disease: Antley-Bixler Syndrome, Autosomal Dominant ×
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: C2936791
Disease: Antley-Bixler Syndrome, Autosomal Dominant
Antley-Bixler Syndrome, Autosomal Dominant 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 9 13 0.010 None 1.000 1 2008 2008