Gene: GNPTAB ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852900
rs137852900
GNPTAB
0.800 GeneticVariation UNIPROT GNPTAB missense mutations cause loss of GlcNAc-1-phosphotransferase activity in mucolipidosis type II through distinct mechanisms. 28918368

2017
dbSNP: rs281865026
rs281865026
GNPTAB
0.800 GeneticVariation UNIPROT GNPTAB missense mutations cause loss of GlcNAc-1-phosphotransferase activity in mucolipidosis type II through distinct mechanisms. 28918368

2017
dbSNP: rs34159654
rs34159654
GNPTAB
0.800 GeneticVariation UNIPROT GNPTAB missense mutations cause loss of GlcNAc-1-phosphotransferase activity in mucolipidosis type II through distinct mechanisms. 28918368

2017
dbSNP: rs281865026
rs281865026
GNPTAB
A 0.800 CausalMutation CLINVAR Solving a case of allelic dropout in the GNPTAB gene: implications in the molecular diagnosis of mucolipidosis type III alpha/beta. 27710913

2016
dbSNP: rs137852900
rs137852900
GNPTAB
0.800 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: rs137852900
rs137852900
GNPTAB
0.800 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: rs281865026
rs281865026
GNPTAB
0.800 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: rs281865026
rs281865026
GNPTAB
0.800 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: rs281865026
rs281865026
GNPTAB
A 0.800 CausalMutation CLINVAR 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: rs34159654
rs34159654
GNPTAB
G 0.800 GeneticVariation CLINVAR 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: rs34159654
rs34159654
GNPTAB
0.800 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: rs34159654
rs34159654
GNPTAB
0.800 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: rs137852900
rs137852900
GNPTAB
0.800 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: rs137852900
rs137852900
GNPTAB
0.800 GeneticVariation UNIPROT Mislocalization of phosphotransferase as a cause of mucolipidosis III αβ. 24550498

2014
dbSNP: rs137852900
rs137852900
GNPTAB
0.800 GeneticVariation UNIPROT A novel intermediate mucolipidosis II/IIIαβ caused by GNPTAB mutation in the cytosolic N-terminal domain. 24045841

2014
dbSNP: rs281865026
rs281865026
GNPTAB
0.800 GeneticVariation UNIPROT A novel intermediate mucolipidosis II/IIIαβ caused by GNPTAB mutation in the cytosolic N-terminal domain. 24045841

2014
dbSNP: rs281865026
rs281865026
GNPTAB
A 0.800 CausalMutation CLINVAR Mucolipidosis II-related mutations inhibit the exit from the endoplasmic reticulum and proteolytic cleavage of GlcNAc-1-phosphotransferase precursor protein (GNPTAB). 24375680

2014
dbSNP: rs281865026
rs281865026
GNPTAB
A 0.800 CausalMutation CLINVAR Mislocalization of phosphotransferase as a cause of mucolipidosis III αβ. 24550498

2014
dbSNP: rs281865026
rs281865026
GNPTAB
0.800 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: rs281865026
rs281865026
GNPTAB
0.800 GeneticVariation UNIPROT Mislocalization of phosphotransferase as a cause of mucolipidosis III αβ. 24550498

2014
dbSNP: rs34159654
rs34159654
GNPTAB
0.800 GeneticVariation UNIPROT Intermediate ML patients who share the c.10A>C/p.K4Q mutation in GNPTAB demonstrate a distinct, consistent phenotype similar to ML II in physical and radiographic features and to ML IIIα/β in psychomotor development and life expectancy. 24045841

2014
dbSNP: rs34159654
rs34159654
GNPTAB
0.800 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: rs34159654
rs34159654
GNPTAB
G 0.800 GeneticVariation CLINVAR Intermediate ML patients who share the c.10A>C/p.K4Q mutation in GNPTAB demonstrate a distinct, consistent phenotype similar to ML II in physical and radiographic features and to ML IIIα/β in psychomotor development and life expectancy. 24045841

2014
dbSNP: rs34159654
rs34159654
GNPTAB
G 0.800 GeneticVariation CLINVAR Mislocalization of phosphotransferase as a cause of mucolipidosis III αβ. 24550498

2014
dbSNP: rs34159654
rs34159654
GNPTAB
0.800 GeneticVariation UNIPROT Mislocalization of phosphotransferase as a cause of mucolipidosis III αβ. 24550498

2014