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 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 A case of mucolipidosis II presenting with prenatal skeletal dysplasia and severe secondary hyperparathyroidism at birth. 23227064 2012
Entrez Id: 79158
Gene Symbol: GNPTAB
GNPTAB 		0.930 GeneticVariation disease CLINVAR 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
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 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
Entrez Id: 79158
Gene Symbol: GNPTAB
GNPTAB 		0.930 GeneticVariation disease CLINVAR Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands. 19617216 2010
Entrez Id: 79158
Gene Symbol: GNPTAB
GNPTAB 		0.930 GeneticVariation disease CLINVAR 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
Entrez Id: 79158
Gene Symbol: GNPTAB
GNPTAB 		0.930 CausalMutation disease CLINVAR Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease. 20886637 2010
Entrez Id: 79158
Gene Symbol: GNPTAB
GNPTAB 		0.930 CausalMutation disease CLINVAR Origin and spread of a common deletion causing mucolipidosis type II: insights from patterns of haplotypic diversity. 20880125 2011
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 CausalMutation disease CLINVAR Mucolipidosis II: first report from Saudi Arabia. 24060719 2014
Entrez Id: 79158
Gene Symbol: GNPTAB
GNPTAB 		0.930 CausalMutation disease CLINVAR 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
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 Carrier testing for severe childhood recessive diseases by next-generation sequencing. 21228398 2011
Entrez Id: 79158
Gene Symbol: GNPTAB
GNPTAB 		0.930 CausalMutation disease CLINVAR Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase. 16200072 2005
Entrez Id: 79158
Gene Symbol: GNPTAB
GNPTAB 		0.930 GeneticVariation disease CLINVAR Molecular analysis of cell lines from patients with mucolipidosis II and mucolipidosis III. 19938078 2009
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 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 Mucolipidosis (ML) II alpha/beta and III alpha/beta are autosomal recessive diseases caused by a deficiency of alpha and/or beta subunits of the enzyme N-acetylglucosamine-1-phosphotransferase, which is encoded by the GNPTAB gene. 19197337 2009
Entrez Id: 79158
Gene Symbol: GNPTAB
GNPTAB 		0.930 CausalMutation disease CLINVAR A compound heterozygous GNPTAB mutation causes mucolipidosis II with marked hair color change in a Han Chinese baby. 21416587 2011
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 Mucolipidosis II: a single causal mutation in the N-acetylglucosamine-1-phosphotransferase gene (GNPTAB) in a French Canadian founder population. 18190596 2008
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 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 CausalMutation disease CLINVAR When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patients. 16630736 2006