NEU1, neuraminidase 1, 4758

N. diseases: 207; N. variants: 28
Disease: Type I Mucolipidosis ×
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: C0268226
Disease: Type I Mucolipidosis
Type I Mucolipidosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.710 1.000 3 2000 2018
dbSNP: rs769765227
rs769765227 		0.925 0.160 6 31860558 missense variant C/T snv 2.0E-05 7.0E-06
CUI: C0268226
Disease: Type I Mucolipidosis
Type I Mucolipidosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 2 2000 2014
dbSNP: rs754405067
rs754405067 		1.000 0.160 6 31862662 frameshift variant CA/- delins
CUI: C0268226
Disease: Type I Mucolipidosis
Type I Mucolipidosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs104893983
rs104893983 		0.882 0.160 6 31860510 missense variant C/T snv 8.0E-06
CUI: C0268226
Disease: Type I Mucolipidosis
Type I Mucolipidosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2010 2010