NEU1, neuraminidase 1, 4758

N. diseases: 207; N. variants: 28
Disease: Mucolipidoses ×
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: rs398123392
rs398123392 		0.882 0.160 6 31861259 missense variant T/C;G snv 1.1E-04
CUI: C0026697
Disease: Mucolipidoses
Mucolipidoses 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2018 2018