Gene: GNPTAB ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 79158
Gene Symbol: GNPTAB
GNPTAB 		0.100 CausalMutation phenotype CLINVAR Pitfalls in the prenatal diagnosis of mucolipidosis II alpha/beta: A case report. 25606425 2014
Entrez Id: 79158
Gene Symbol: GNPTAB
GNPTAB 		0.100 CausalMutation phenotype CLINVAR Origin and spread of a common deletion causing mucolipidosis type II: insights from patterns of haplotypic diversity. 20880125 2011
Entrez Id: 79158
Gene Symbol: GNPTAB
GNPTAB 		0.100 CausalMutation phenotype 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