Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893983
rs104893983
CYP21A2 ; NEU1
CUI: C4282398
Disease: Sialidase deficiency
Sialidase deficiency 		0.710 GeneticVariation BEFREE Autopsy findings of a patient, with sialidosis type I phenotype carrying V217M/G243R mutations in the lysosomal sialidase gene and biochemically defined isolated sialidase deficiency, who died of intractable lymphoma at the age of 32 years, are described. 19415310

2010
dbSNP: rs398123392
rs398123392
CYP21A2 ; NEU1
CUI: C0268226
Disease: Type I Mucolipidosis
Type I Mucolipidosis 		0.710 GeneticVariation BEFREE In this study, we used Sendai virus reprogramming to generate an induced pluripotent stem cell (iPSC) line carrying the A544G mutation combined with the 667-679 deletion of the NEU1 gene from a sialidosis patient. 29414417

2018
dbSNP: rs104893978
rs104893978
CYP21A2 ; NEU1
CUI: C3888317
Disease: Sialidosis, type 2
Sialidosis, type 2 		0.010 GeneticVariation BEFREE One patient with a severe, congenital form of type 2 sialidosis was a compound heterozygote for 239C-to-T (P80L) and 718T-to-C (W240R). 11829139

2002
dbSNP: rs104893983
rs104893983
CYP21A2 ; NEU1
CUI: C0268226
Disease: Type I Mucolipidosis
Type I Mucolipidosis 		0.010 GeneticVariation BEFREE Autopsy findings of a patient, with sialidosis type I phenotype carrying V217M/G243R mutations in the lysosomal sialidase gene and biochemically defined isolated sialidase deficiency, who died of intractable lymphoma at the age of 32 years, are described. 19415310

2010
dbSNP: rs104893985
rs104893985
CYP21A2 ; NEU1
CUI: C3888317
Disease: Sialidosis, type 2
Sialidosis, type 2 		0.010 GeneticVariation BEFREE One patient with a severe, congenital form of type 2 sialidosis was a compound heterozygote for 239C-to-T (P80L) and 718T-to-C (W240R). 11829139

2002
dbSNP: rs193922915
rs193922915
NEU1
CUI: C0268228
Disease: Neuraminidase 1 deficiency
Neuraminidase 1 deficiency 		0.010 GeneticVariation BEFREE We analyzed the effect of the missense mutations G68V, S182G, G227R, F260Y, L270F, A298V, G328S, and L363P, which are identified in the sialidosis type I and sialidosis type II patients, on the activity, stability, and intracellular distribution of sialidase. 11279074

2001
dbSNP: rs28940583
rs28940583
CYP21A2 ; NEU1
CUI: C0268228
Disease: Neuraminidase 1 deficiency
Neuraminidase 1 deficiency 		0.010 GeneticVariation BEFREE Sialidosis type I carrying V217M/G243R mutations in lysosomal sialidase: an autopsy study demonstrating terminal sialic acid in lysosomal lamellar inclusions and cerebellar dysplasia. 19415310

2010
dbSNP: rs398123392
rs398123392
CYP21A2 ; NEU1
CUI: C0026697
Disease: Mucolipidoses
Mucolipidoses 		0.010 GeneticVariation BEFREE In this study, we used Sendai virus reprogramming to generate an induced pluripotent stem cell (iPSC) line carrying the A544G mutation combined with the 667-679 deletion of the NEU1 gene from a sialidosis patient. 29414417

2018