Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: rs137852897
rs137852897
GNPTAB
A 0.700 CausalMutation CLINVAR A compound heterozygous GNPTAB mutation causes mucolipidosis II with marked hair color change in a Han Chinese baby. 21416587

2011
dbSNP: rs137852897
rs137852897
GNPTAB
A 0.700 CausalMutation CLINVAR Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands. 19617216

2010
dbSNP: rs137852897
rs137852897
GNPTAB
A 0.700 CausalMutation CLINVAR Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype-phenotype correlation. 19197337

2009
dbSNP: rs137852897
rs137852897
GNPTAB
A 0.700 CausalMutation CLINVAR Identification of mutations in the GNPTA (MGC4170) gene coding for GlcNAc-phosphotransferase alpha/beta subunits in Korean patients with mucolipidosis type II or type IIIA. 16116615

2005