rs34002892, GNPTAB

N. diseases: 8
Disease: Pseudo-Hurler Polydystrophy ×
Source: CURATED ×
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Pseudo-Hurler Polydystrophy
CUI: C0033788
Disease: Pseudo-Hurler Polydystrophy
0.700 CausalMutation CLINVAR Solving a case of allelic dropout in the GNPTAB gene: implications in the molecular diagnosis of mucolipidosis type III alpha/beta. 27710913 2016
Pseudo-Hurler Polydystrophy
CUI: C0033788
Disease: Pseudo-Hurler Polydystrophy
0.700 CausalMutation CLINVAR Pitfalls in the prenatal diagnosis of mucolipidosis II alpha/beta: A case report. 25606425 2014
Pseudo-Hurler Polydystrophy
CUI: C0033788
Disease: Pseudo-Hurler Polydystrophy
0.700 CausalMutation CLINVAR Mucolipidosis II-related mutations inhibit the exit from the endoplasmic reticulum and proteolytic cleavage of GlcNAc-1-phosphotransferase precursor protein (GNPTAB). 24375680 2014
Pseudo-Hurler Polydystrophy
CUI: C0033788
Disease: Pseudo-Hurler Polydystrophy
0.700 CausalMutation CLINVAR Carrier testing for severe childhood recessive diseases by next-generation sequencing. 21228398 2011
Pseudo-Hurler Polydystrophy
CUI: C0033788
Disease: Pseudo-Hurler Polydystrophy
0.700 CausalMutation CLINVAR Origin and spread of a common deletion causing mucolipidosis type II: insights from patterns of haplotypic diversity. 20880125 2011
Pseudo-Hurler Polydystrophy
CUI: C0033788
Disease: Pseudo-Hurler Polydystrophy
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