rs137852885, GNPTG

N. diseases: 1
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Mucolipidosis III Gamma
CUI: C1854896
Disease: Mucolipidosis III Gamma
0.800 GeneticVariation UNIPROT Mucolipidosis III GNPTG Missense Mutations Cause Misfolding of the γ Subunit of GlcNAc-1-Phosphotransferase. 27038293 2016
Mucolipidosis III Gamma
CUI: C1854896
Disease: Mucolipidosis III Gamma
0.800 GeneticVariation UNIPROT Tuberous sclerosis, polycystic kidney disease and mucolipidosis III gamma caused by a microdeletion unmasking a recessive mutation. 26108976 2015
Mucolipidosis III Gamma
CUI: C1854896
Disease: Mucolipidosis III Gamma
0.800 GeneticVariation UNIPROT Three novel homozygous mutations in the GNPTG gene that cause mucolipidosis type III gamma. 24316125 2014
Mucolipidosis III Gamma
CUI: C1854896
Disease: Mucolipidosis III Gamma
0.800 GeneticVariation UNIPROT Identification and molecular characterization of six novel mutations in the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTG) gene in patients with mucolipidosis III gamma. 19370764 2009
Mucolipidosis III Gamma
CUI: C1854896
Disease: Mucolipidosis III Gamma
0.800 GeneticVariation UNIPROT A novel mutation in UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) in two siblings with mucolipidosis type III alters a used glycosylation site. 15532026 2004
Mucolipidosis III Gamma
CUI: C1854896
Disease: Mucolipidosis III Gamma
0.800 GeneticVariation UNIPROT Genomic organisation of the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) and its mutations in mucolipidosis III. 15060128 2004
Mucolipidosis III Gamma
CUI: C1854896
Disease: Mucolipidosis III Gamma
0.800 GeneticVariation UNIPROT Molecular basis of variant pseudo-hurler polydystrophy (mucolipidosis IIIC) 10712439 2000
Mucolipidosis III Gamma
CUI: C1854896
Disease: Mucolipidosis III Gamma
0.800 CausalMutation CLINVAR