Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs281864979
rs281864979
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: rs281864979
rs281864979
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: rs281864979
rs281864979
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: rs281864979
rs281864979
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: rs281864979
rs281864979
GNPTAB
0.700 GeneticVariation UNIPROT Mislocalization of phosphotransferase as a cause of mucolipidosis III αβ. 24550498

2014
dbSNP: rs281864979
rs281864979
GNPTAB
0.700 GeneticVariation UNIPROT A novel intermediate mucolipidosis II/IIIαβ caused by GNPTAB mutation in the cytosolic N-terminal domain. 24045841

2014
dbSNP: rs281864979
rs281864979
GNPTAB
0.700 GeneticVariation UNIPROT Mucolipidosis II and III alpha/beta in Brazil: analysis of the GNPTAB gene. 23566849

2013
dbSNP: rs281864979
rs281864979
GNPTAB
0.700 GeneticVariation UNIPROT Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands. 19617216

2010
dbSNP: rs281864979
rs281864979
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: rs281864979
rs281864979
GNPTAB
0.700 GeneticVariation UNIPROT Molecular analysis of cell lines from patients with mucolipidosis II and mucolipidosis III. 19938078

2009
dbSNP: rs281864979
rs281864979
GNPTAB
0.700 GeneticVariation UNIPROT Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype-phenotype correlation. 19197337

2009
dbSNP: rs281864979
rs281864979
GNPTAB
0.700 GeneticVariation UNIPROT DNA-based diagnosis of mucolipidosis type IIIA and mucopolysacchariodisis type VI in a Chinese family: a chance of 1 in 7.6 trillion. 17034777

2007
dbSNP: rs281864979
rs281864979
GNPTAB
0.700 GeneticVariation UNIPROT Mucolipidosis II (I-cell disease) and mucolipidosis IIIA (classical pseudo-hurler polydystrophy) are caused by mutations in the GlcNAc-phosphotransferase alpha beta -subunits precursor gene. 16465621

2006
dbSNP: rs281864979
rs281864979
GNPTAB
0.700 GeneticVariation UNIPROT When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patients. 16630736

2006
dbSNP: rs281864979
rs281864979
GNPTAB
0.700 GeneticVariation UNIPROT Missense mutations in N-acetylglucosamine-1-phosphotransferase alpha/beta subunit gene in a patient with mucolipidosis III and a mild clinical phenotype. 16094673

2005