Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs281864958
rs281864958
GNPTAB
0.700 GeneticVariation UNIPROT GNPTAB missense mutations cause loss of GlcNAc-1-phosphotransferase activity in mucolipidosis type II through distinct mechanisms. 28918368

2017
dbSNP: rs281864958
rs281864958
GNPTAB
0.700 GeneticVariation UNIPROT Analysis of mucolipidosis II/III GNPTAB missense mutations identifies domains of UDP-GlcNAc:lysosomal enzyme GlcNAc-1-phosphotransferase involved in catalytic function and lysosomal enzyme recognition. 25505245

2015
dbSNP: rs281864958
rs281864958
GNPTAB
0.700 GeneticVariation UNIPROT Dried blood spots allow targeted screening to diagnose mucopolysaccharidosis and mucolipidosis. 24798265

2015
dbSNP: rs281864958
rs281864958
GNPTAB
0.700 GeneticVariation UNIPROT Analyses of disease-related GNPTAB mutations define a novel GlcNAc-1-phosphotransferase interaction domain and an alternative site-1 protease cleavage site. 25788519

2015
dbSNP: rs281864958
rs281864958
GNPTAB
0.700 GeneticVariation UNIPROT Mucolipidosis II-related mutations inhibit the exit from the endoplasmic reticulum and proteolytic cleavage of GlcNAc-1-phosphotransferase precursor protein (GNPTAB). 24375680

2014
dbSNP: rs281864958
rs281864958
GNPTAB
0.700 GeneticVariation UNIPROT Mucolipidosis II and III alpha/beta in Brazil: analysis of the GNPTAB gene. 23566849

2013
dbSNP: rs281864958
rs281864958
GNPTAB
0.700 GeneticVariation UNIPROT The DMAP interaction domain of UDP-GlcNAc:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase is a substrate recognition module. 23733939

2013
dbSNP: rs281864958
rs281864958
GNPTAB
0.700 GeneticVariation UNIPROT Two homozygous nonsense mutations of GNPTAB gene in two Chinese families with mucolipidosis II alpha/beta using targeted next-generation sequencing. 23773965

2013
dbSNP: rs281864958
rs281864958
GNPTAB
0.700 GeneticVariation UNIPROT Mucolipidosis type II α/β with a homozygous missense mutation in the GNPTAB gene. 22495880

2012
dbSNP: rs281864958
rs281864958
GNPTAB
0.700 GeneticVariation UNIPROT Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands. 19617216

2010
dbSNP: rs281864958
rs281864958
GNPTAB
0.700 GeneticVariation UNIPROT Molecular characterization of 22 novel UDP-N-acetylglucosamine-1-phosphate transferase alpha- and beta-subunit (GNPTAB) gene mutations causing mucolipidosis types IIalpha/beta and IIIalpha/beta in 46 patients. 19634183

2009
dbSNP: rs281864958
rs281864958
GNPTAB
0.700 GeneticVariation UNIPROT Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype-phenotype correlation. 19197337

2009
dbSNP: rs281864958
rs281864958
GNPTAB
0.700 GeneticVariation UNIPROT Molecular analysis of cell lines from patients with mucolipidosis II and mucolipidosis III. 19938078

2009
dbSNP: rs281864958
rs281864958
GNPTAB
0.700 GeneticVariation UNIPROT Missense mutation in the N-acetylglucosamine-1-phosphotransferase gene (GNPTA) in a patient with mucolipidosis II induces changes in the size and cellular distribution of GNPTG. 16835905

2006
dbSNP: rs281864958
rs281864958
GNPTAB
0.700 GeneticVariation UNIPROT Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase. 16200072

2005