NANS, N-acetylneuraminate synthase, 54187

N. diseases: 5; N. variants: 10
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: C1864872
Disease: Spondyloepimetaphyseal dysplasia, Genevieve type
Spondyloepimetaphyseal dysplasia, Genevieve type 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 1 10 0.700 strong 1.000 1 10 2016 2016
CUI: C0005941
Disease: Bone Diseases, Developmental
Bone Diseases, Developmental 		group Musculoskeletal Diseases Disease or Syndrome 27 0.300 None 1.000 1 2016 2016
CUI: C0008073
Disease: Developmental Disabilities
Developmental Disabilities 		group Mental Disorders Mental or Behavioral Dysfunction 30 1 0.300 None 1.000 1 2016 2016
CUI: C0085996
Disease: Child Development Deviations
Child Development Deviations 		disease Mental Disorders Mental or Behavioral Dysfunction 29 0.300 None 1.000 1 2016 2016
CUI: C0085997
Disease: Child Development Disorders, Specific
Child Development Disorders, Specific 		disease Mental Disorders Mental or Behavioral Dysfunction 29 0.300 None 1.000 1 2016 2016