SETBP1, SET binding protein 1, 26040

N. diseases: 6; N. variants: 7
Disease: Schinzel-Giedion syndrome ×
Source: UNIPROT ×
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: C0265227
Disease: Schinzel-Giedion syndrome
Schinzel-Giedion syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 1 5 0.770 strong 0.909 1 5 2010 2018