Gene: GNPTAB ×
Source: INFERRED ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 79158
Gene Symbol: GNPTAB
GNPTAB 		0.930 CausalMutation disease CLINVAR Mutation Analysis of 16 Mucolipidosis II and III Alpha/Beta Chinese Children Revealed Genotype-Phenotype Correlations. 27662472 2019
Entrez Id: 79158
Gene Symbol: GNPTAB
GNPTAB 		0.930 CausalMutation disease CLINVAR Clinical, biochemical and molecular characterization of Korean patients with mucolipidosis II/III and successful prenatal diagnosis. 28095893 2017
Entrez Id: 79158
Gene Symbol: GNPTAB
GNPTAB 		0.930 CausalMutation disease 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
Entrez Id: 79158
Gene Symbol: GNPTAB
GNPTAB 		0.930 CausalMutation disease CLINVAR Solving a case of allelic dropout in the GNPTAB gene: implications in the molecular diagnosis of mucolipidosis type III alpha/beta. 27710913 2016
Entrez Id: 79158
Gene Symbol: GNPTAB
GNPTAB 		0.930 GeneticVariation disease CLINVAR A novel splice site mutation in the GNPTAB gene in an Iranian patient with mucolipidosis II α/β. 27180337 2016
Entrez Id: 79158
Gene Symbol: GNPTAB
GNPTAB 		0.930 CausalMutation disease CLINVAR A novel splice site mutation in the GNPTAB gene in an Iranian patient with mucolipidosis II α/β. 27180337 2016
Entrez Id: 79158
Gene Symbol: GNPTAB
GNPTAB 		0.930 CausalMutation disease CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
Entrez Id: 79158
Gene Symbol: GNPTAB
GNPTAB 		0.930 GeneticVariation disease 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
Entrez Id: 79158
Gene Symbol: GNPTAB
GNPTAB 		0.930 CausalMutation disease 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
Entrez Id: 79158
Gene Symbol: GNPTAB
GNPTAB 		0.930 CausalMutation disease CLINVAR Dried blood spots allow targeted screening to diagnose mucopolysaccharidosis and mucolipidosis. 24798265 2015
Entrez Id: 79158
Gene Symbol: GNPTAB
GNPTAB 		0.930 CausalMutation disease 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
Entrez Id: 79158
Gene Symbol: GNPTAB
GNPTAB 		0.930 GeneticVariation disease CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
Entrez Id: 79158
Gene Symbol: GNPTAB
GNPTAB 		0.930 CausalMutation disease CLINVAR A novel intermediate mucolipidosis II/IIIαβ caused by GNPTAB mutation in the cytosolic N-terminal domain. 24045841 2014
Entrez Id: 79158
Gene Symbol: GNPTAB
GNPTAB 		0.930 GeneticVariation disease CLINVAR Mislocalization of phosphotransferase as a cause of mucolipidosis III αβ. 24550498 2014
Entrez Id: 79158
Gene Symbol: GNPTAB
GNPTAB 		0.930 CausalMutation disease CLINVAR Mucolipidosis II: first report from Saudi Arabia. 24060719 2014
Entrez Id: 79158
Gene Symbol: GNPTAB
GNPTAB 		0.930 CausalMutation disease CLINVAR A novel mouse model of a patient mucolipidosis II mutation recapitulates disease pathology. 25107912 2014
Entrez Id: 79158
Gene Symbol: GNPTAB
GNPTAB 		0.930 GeneticVariation disease CLINVAR Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders. 25473036 2014
Entrez Id: 79158
Gene Symbol: GNPTAB
GNPTAB 		0.930 CausalMutation disease CLINVAR Mucolipidosis II-related mutations inhibit the exit from the endoplasmic reticulum and proteolytic cleavage of GlcNAc-1-phosphotransferase precursor protein (GNPTAB). 24375680 2014
Entrez Id: 79158
Gene Symbol: GNPTAB
GNPTAB 		0.930 CausalMutation disease CLINVAR Mislocalization of phosphotransferase as a cause of mucolipidosis III αβ. 24550498 2014
Entrez Id: 79158
Gene Symbol: GNPTAB
GNPTAB 		0.930 CausalMutation disease CLINVAR Pitfalls in the prenatal diagnosis of mucolipidosis II alpha/beta: A case report. 25606425 2014
Entrez Id: 79158
Gene Symbol: GNPTAB
GNPTAB 		0.930 GeneticVariation disease CLINVAR A novel intermediate mucolipidosis II/IIIαβ caused by GNPTAB mutation in the cytosolic N-terminal domain. 24045841 2014
Entrez Id: 79158
Gene Symbol: GNPTAB
GNPTAB 		0.930 CausalMutation disease CLINVAR Two homozygous nonsense mutations of GNPTAB gene in two Chinese families with mucolipidosis II alpha/beta using targeted next-generation sequencing. 23773965 2013
Entrez Id: 79158
Gene Symbol: GNPTAB
GNPTAB 		0.930 CausalMutation disease CLINVAR Mucolipidosis II and III alpha/beta in Brazil: analysis of the GNPTAB gene. 23566849 2013
Entrez Id: 79158
Gene Symbol: GNPTAB
GNPTAB 		0.930 GeneticVariation disease CLINVAR Transport of the GlcNAc-1-phosphotransferase α/β-subunit precursor protein to the Golgi apparatus requires a combinatorial sorting motif. 23192343 2013
Entrez Id: 79158
Gene Symbol: GNPTAB
GNPTAB 		0.930 CausalMutation disease CLINVAR A case of mucolipidosis II presenting with prenatal skeletal dysplasia and severe secondary hyperparathyroidism at birth. 23227064 2012