Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs281865031
rs281865031
GNPTAB
T 0.700 CausalMutation CLINVAR Mutation Analysis of 16 Mucolipidosis II and III Alpha/Beta Chinese Children Revealed Genotype-Phenotype Correlations. 27662472

2019
dbSNP: rs281865031
rs281865031
GNPTAB
T 0.700 CausalMutation CLINVAR A novel mouse model of a patient mucolipidosis II mutation recapitulates disease pathology. 25107912

2014
dbSNP: rs281865031
rs281865031
GNPTAB
T 0.700 CausalMutation CLINVAR Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands. 19617216

2010
dbSNP: rs281865031
rs281865031
GNPTAB
T 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