Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1429181351
rs1429181351
GNPTAB
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR Renal involvement in patients with mucolipidosis IIIalpha/beta: Causal relation or co-occurrence? 26749367

2016
dbSNP: rs1429181351
rs1429181351
GNPTAB
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR Transport of the GlcNAc-1-phosphotransferase α/β-subunit precursor protein to the Golgi apparatus requires a combinatorial sorting motif. 23192343

2013
dbSNP: rs1429181351
rs1429181351
GNPTAB
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR Mutations in the lysosomal enzyme-targeting pathway and persistent stuttering. 20147709

2010
dbSNP: rs1429181351
rs1429181351
GNPTAB
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands. 19617216

2010
dbSNP: rs1429181351
rs1429181351
GNPTAB
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR The natural history and osteodystrophy of mucolipidosis types II and III. 20367762

2010
dbSNP: rs1429181351
rs1429181351
GNPTAB
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR Molecular characterization of 22 novel UDP-N-acetylglucosamine-1-phosphate transferase alpha- and beta-subunit (GNPTAB) gene mutations causing mucolipidosis types IIalpha/beta and IIIalpha/beta in 46 patients. 19634183

2009
dbSNP: rs1429181351
rs1429181351
GNPTAB
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype-phenotype correlation. 19197337

2009
dbSNP: rs1429181351
rs1429181351
GNPTAB
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patients. 16630736

2006
dbSNP: rs1429181351
rs1429181351
GNPTAB
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase. 16200072

2005