Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs36007394
rs36007394
GNPTAB
A 0.700 CausalMutation CLINVAR Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands. 19617216

2010
dbSNP: rs36007394
rs36007394
GNPTAB
A 0.700 CausalMutation CLINVAR Molecular analysis of the GNPTAB and GNPTG genes in 13 patients with mucolipidosis type II or type III - identification of eight novel mutations. 19659762

2009
dbSNP: rs36007394
rs36007394
GNPTAB
A 0.700 CausalMutation 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