PAX6, paired box 6, 5080

N. diseases: 55; N. variants: 109
Disease: Gillespie syndrome ×
Source: CURATED ×
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: C0431401
Disease: Gillespie syndrome
Gillespie syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 2 13 0.530 None 0.857 4 1988 2016