Gene: GNPTAB ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852900
rs137852900
GNPTAB
G 0.800 CausalMutation CLINVAR

dbSNP: rs281864953
rs281864953
GNPTAB
A 0.800 CausalMutation CLINVAR

dbSNP: rs281864970
rs281864970
GNPTAB
T 0.800 CausalMutation CLINVAR

dbSNP: rs281864970
rs281864970
GNPTAB
A 0.800 CausalMutation CLINVAR

dbSNP: rs281865006
rs281865006
GNPTAB
G 0.800 CausalMutation CLINVAR

dbSNP: rs281865010
rs281865010
GNPTAB
C 0.800 CausalMutation CLINVAR

dbSNP: rs200646278
rs200646278
GNPTAB
A 0.700 CausalMutation CLINVAR Mutation Analysis of 16 Mucolipidosis II and III Alpha/Beta Chinese Children Revealed Genotype-Phenotype Correlations. 27662472

2019
dbSNP: rs281865031
rs281865031
GNPTAB
T 0.700 CausalMutation CLINVAR Mutation Analysis of 16 Mucolipidosis II and III Alpha/Beta Chinese Children Revealed Genotype-Phenotype Correlations. 27662472

2019
dbSNP: rs35333334
rs35333334
CHPT1 ; GNPTAB
A 0.700 CausalMutation CLINVAR Mutation Analysis of 16 Mucolipidosis II and III Alpha/Beta Chinese Children Revealed Genotype-Phenotype Correlations. 27662472

2019
dbSNP: rs137852897
rs137852897
GNPTAB
A 0.700 CausalMutation CLINVAR Clinical, biochemical and molecular characterization of Korean patients with mucolipidosis II/III and successful prenatal diagnosis. 28095893

2017
dbSNP: rs281865029
rs281865029
GNPTAB
T 0.700 CausalMutation CLINVAR Clinical, biochemical and molecular characterization of Korean patients with mucolipidosis II/III and successful prenatal diagnosis. 28095893

2017
dbSNP: rs397507448
rs397507448
GNPTAB
T 0.700 CausalMutation CLINVAR Neonatal mucolipidosis type II alpha/beta due to compound heterozygosity for a known and novel GNPTAB mutation, and a concomitant heterozygous change in SERPINF1 inherited from the mother. 28396763

2017
dbSNP: rs281865026
rs281865026
GNPTAB
A 0.700 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: rs34002892
rs34002892
GNPTAB
T 0.700 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: rs875989952
rs875989952
GNPTAB
C 0.700 GeneticVariation CLINVAR A novel splice site mutation in the GNPTAB gene in an Iranian patient with mucolipidosis II α/β. 27180337

2016
dbSNP: rs875989952
rs875989952
GNPTAB
C 0.700 CausalMutation CLINVAR A novel splice site mutation in the GNPTAB gene in an Iranian patient with mucolipidosis II α/β. 27180337

2016
dbSNP: rs142065232
rs142065232
GNPTAB
T 0.700 CausalMutation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
dbSNP: rs281864982
rs281864982
GNPTAB
A 0.700 CausalMutation CLINVAR 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: rs281865001
rs281865001
GNPTAB
C 0.700 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
dbSNP: rs281865024
rs281865024
GNPTAB
A 0.700 CausalMutation CLINVAR Dried blood spots allow targeted screening to diagnose mucopolysaccharidosis and mucolipidosis. 24798265

2015
dbSNP: rs281865026
rs281865026
GNPTAB
A 0.700 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 0.700 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: rs78347057
rs78347057
GNPTAB
A 0.700 CausalMutation CLINVAR Dried blood spots allow targeted screening to diagnose mucopolysaccharidosis and mucolipidosis. 24798265

2015
dbSNP: rs281865026
rs281865026
GNPTAB
A 0.700 CausalMutation CLINVAR Mislocalization of phosphotransferase as a cause of mucolipidosis III αβ. 24550498

2014
dbSNP: rs281865026
rs281865026
GNPTAB
A 0.700 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