rs1429181351
|
Entrez Id: |
79158 |
Gene Symbol: |
GNPTAB |
GNPTAB
|
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 |
rs1429181351
|
Entrez Id: |
79158 |
Gene Symbol: |
GNPTAB |
GNPTAB
|
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 |
rs1429181351
|
Entrez Id: |
79158 |
Gene Symbol: |
GNPTAB |
GNPTAB
|
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 |
rs1429181351
|
Entrez Id: |
79158 |
Gene Symbol: |
GNPTAB |
GNPTAB
|
Multiple congenital anomalies
|
C |
0.700 |
CausalMutation |
CLINVAR |
Renal involvement in patients with mucolipidosis IIIalpha/beta: Causal relation or co-occurrence?
|
26749367 |
2016 |
rs1429181351
|
Entrez Id: |
79158 |
Gene Symbol: |
GNPTAB |
GNPTAB
|
Multiple congenital anomalies
|
C |
0.700 |
CausalMutation |
CLINVAR |
The natural history and osteodystrophy of mucolipidosis types II and III.
|
20367762 |
2010 |
rs1429181351
|
Entrez Id: |
79158 |
Gene Symbol: |
GNPTAB |
GNPTAB
|
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 |
rs1429181351
|
Entrez Id: |
79158 |
Gene Symbol: |
GNPTAB |
GNPTAB
|
Multiple congenital anomalies
|
C |
0.700 |
CausalMutation |
CLINVAR |
When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patients.
|
16630736 |
2006 |
rs1429181351
|
Entrez Id: |
79158 |
Gene Symbol: |
GNPTAB |
GNPTAB
|
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 |
rs1429181351
|
Entrez Id: |
79158 |
Gene Symbol: |
GNPTAB |
GNPTAB
|
Multiple congenital anomalies
|
C |
0.700 |
CausalMutation |
CLINVAR |
Mutations in the lysosomal enzyme-targeting pathway and persistent stuttering.
|
20147709 |
2010 |
rs34002892
|
Entrez Id: |
79158 |
Gene Symbol: |
GNPTAB |
GNPTAB
|
Multiple congenital anomalies
|
T |
0.700 |
CausalMutation |
CLINVAR |
Mutations in the lysosomal enzyme-targeting pathway and persistent stuttering.
|
20147709 |
2010 |
rs34002892
|
Entrez Id: |
79158 |
Gene Symbol: |
GNPTAB |
GNPTAB
|
Multiple congenital anomalies
|
T |
0.700 |
CausalMutation |
CLINVAR |
Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands.
|
19617216 |
2010 |
rs34002892
|
Entrez Id: |
79158 |
Gene Symbol: |
GNPTAB |
GNPTAB
|
Multiple congenital anomalies
|
T |
0.700 |
CausalMutation |
CLINVAR |
Renal involvement in patients with mucolipidosis IIIalpha/beta: Causal relation or co-occurrence?
|
26749367 |
2016 |
rs34002892
|
Entrez Id: |
79158 |
Gene Symbol: |
GNPTAB |
GNPTAB
|
Multiple congenital anomalies
|
T |
0.700 |
CausalMutation |
CLINVAR |
The natural history and osteodystrophy of mucolipidosis types II and III.
|
20367762 |
2010 |
rs34002892
|
Entrez Id: |
79158 |
Gene Symbol: |
GNPTAB |
GNPTAB
|
Multiple congenital anomalies
|
T |
0.700 |
CausalMutation |
CLINVAR |
Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype-phenotype correlation.
|
19197337 |
2009 |
rs34002892
|
Entrez Id: |
79158 |
Gene Symbol: |
GNPTAB |
GNPTAB
|
Multiple congenital anomalies
|
T |
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 |
rs34002892
|
Entrez Id: |
79158 |
Gene Symbol: |
GNPTAB |
GNPTAB
|
Multiple congenital anomalies
|
T |
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 |
rs34002892
|
Entrez Id: |
79158 |
Gene Symbol: |
GNPTAB |
GNPTAB
|
Multiple congenital anomalies
|
T |
0.700 |
CausalMutation |
CLINVAR |
When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patients.
|
16630736 |
2006 |
rs34002892
|
Entrez Id: |
79158 |
Gene Symbol: |
GNPTAB |
GNPTAB
|
Multiple congenital anomalies
|
T |
0.700 |
CausalMutation |
CLINVAR |
Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase.
|
16200072 |
2005 |