Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852885
rs137852885
GNPTG
0.800 GeneticVariation UNIPROT Mucolipidosis III GNPTG Missense Mutations Cause Misfolding of the γ Subunit of GlcNAc-1-Phosphotransferase. 27038293

2016
dbSNP: rs137852885
rs137852885
GNPTG
0.800 GeneticVariation UNIPROT Tuberous sclerosis, polycystic kidney disease and mucolipidosis III gamma caused by a microdeletion unmasking a recessive mutation. 26108976

2015
dbSNP: rs137852885
rs137852885
GNPTG
0.800 GeneticVariation UNIPROT Three novel homozygous mutations in the GNPTG gene that cause mucolipidosis type III gamma. 24316125

2014
dbSNP: rs137852885
rs137852885
GNPTG
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
dbSNP: rs137852885
rs137852885
GNPTG
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
dbSNP: rs137852885
rs137852885
GNPTG
0.800 GeneticVariation UNIPROT Genomic organisation of the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) and its mutations in mucolipidosis III. 15060128

2004
dbSNP: rs137852885
rs137852885
GNPTG
0.800 GeneticVariation UNIPROT Molecular basis of variant pseudo-hurler polydystrophy (mucolipidosis IIIC) 10712439

2000
dbSNP: rs137852885
rs137852885
GNPTG
A 0.800 CausalMutation CLINVAR

dbSNP: rs193302848
rs193302848
GNPTG
T 0.700 CausalMutation CLINVAR Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism. 27243974

2016
dbSNP: rs763678034
rs763678034
GNPTG
T 0.700 CausalMutation CLINVAR Enigmatic in vivo GlcNAc-1-phosphotransferase (GNPTG) transcript correction to wild type in two mucolipidosis III gamma siblings homozygous for nonsense mutations. 26935170

2016
dbSNP: rs1260510628
rs1260510628
GNPTG
C 0.700 GeneticVariation CLINVAR Three novel homozygous mutations in the GNPTG gene that cause mucolipidosis type III gamma. 24316125

2014
dbSNP: rs193302848
rs193302848
GNPTG
T 0.700 CausalMutation CLINVAR Whole exome sequence analysis of Peters anomaly. 25182519

2014
dbSNP: rs763678034
rs763678034
GNPTG
T 0.700 CausalMutation CLINVAR A de novo or germline mutation in a family with Mucolipidosis III gamma: Implications for molecular diagnosis and genetic counseling. 27896079

2014
dbSNP: rs756959430
rs756959430
GNPTG
AC 0.700 CausalMutation CLINVAR Prevalence and Novel Mutations of Lysosomal Storage Disorders in United Arab Emirates : LSD in UAE. 23430803

2013
dbSNP: rs193302848
rs193302848
GNPTG
T 0.700 CausalMutation CLINVAR Genomic organisation of the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) and its mutations in mucolipidosis III. 15060128

2004
dbSNP: rs756225251
rs756225251
GNPTG
AC 0.700 GeneticVariation CLINVAR Genomic organisation of the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) and its mutations in mucolipidosis III. 15060128

2004
dbSNP: rs756959430
rs756959430
GNPTG
AC 0.700 CausalMutation CLINVAR Molecular basis of variant pseudo-hurler polydystrophy (mucolipidosis IIIC) 10712439

2000
dbSNP: rs1060499690
rs1060499690
GNPTG
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1060499691
rs1060499691
GNPTG
A 0.700 GeneticVariation CLINVAR

dbSNP: rs112850896
rs112850896
GNPTG
A 0.700 GeneticVariation CLINVAR

dbSNP: rs137852884
rs137852884
GNPTG
A 0.700 CausalMutation CLINVAR

dbSNP: rs1385935677
rs1385935677
UNKL ; GNPTG
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1555450716
rs1555450716
GNPTG ; TSR3
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1555450744
rs1555450744
GNPTG ; TSR3
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1555451608
rs1555451608
GNPTG
C 0.700 GeneticVariation CLINVAR