NEU1, neuraminidase 1, 4758

N. diseases: 207; N. variants: 28
Disease: Sialidase deficiency ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs762400331
rs762400331 		1.000 0.160 6 31860545 missense variant A/T snv 4.0E-06 1.4E-05
CUI: C4282398
Disease: Sialidase deficiency
Sialidase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 9 1996 2014