KAT14, lysine acetyltransferase 14, 57325

N. diseases: 4; N. variants: 1
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: C0036572
Disease: Seizures
Seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.100 None 0 1
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0 1
CUI: C0339284
Disease: Polymorphous corneal dystrophy
Polymorphous corneal dystrophy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 14 4 0.020 None 1.000 2 2010 2016
CORNEAL ENDOTHELIAL DYSTROPHY 1, AUTOSOMAL DOMINANT
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 12 4 0.020 None 0.500 2 2010 2016