Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 79158
Gene Symbol: GNPTAB
GNPTAB
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.100 CausalMutation CLINVAR Pitfalls in the prenatal diagnosis of mucolipidosis II alpha/beta: A case report. 25606425

2014
Entrez Id: 79158
Gene Symbol: GNPTAB
GNPTAB
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.100 CausalMutation 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
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.100 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