PYURF, PIGY upstream reading frame, 100996939

N. diseases: 2; N. variants: 2
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: C4225201
Disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6 		disease Disease or Syndrome 2 2 0.100 None 0 2
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Nervous System Diseases Congenital Abnormality 105 104 0.010 None 1.000 1 2003 2003