|
| Entrez Id: |
5836 |
| Gene Symbol: |
PYGL |
PYGL
|
0.720 |
GeneticVariation
|
disease |
BEFREE |
A pathogenic mutation in PYGL gene suggested GSD-VI.
|
28984260 |
2017 |
|
| Entrez Id: |
5836 |
| Gene Symbol: |
PYGL |
PYGL
|
0.720 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
|
| Entrez Id: |
5836 |
| Gene Symbol: |
PYGL |
PYGL
|
0.720 |
CausalMutation
|
disease |
CLINVAR |
The natural history of glycogen storage disease types VI and IX: Long-term outcome from the largest metabolic center in Canada.
|
25266922 |
2014 |
|
| Entrez Id: |
5836 |
| Gene Symbol: |
PYGL |
PYGL
|
0.720 |
CausalMutation
|
disease |
CLINVAR |
Clinical application of massively parallel sequencing in the molecular diagnosis of glycogen storage diseases of genetically heterogeneous origin.
|
22899091 |
2013 |
|
| Entrez Id: |
5836 |
| Gene Symbol: |
PYGL |
PYGL
|
0.720 |
CausalMutation
|
disease |
CLINVAR |
Liver glycogen storage diseases due to phosphorylase system deficiencies: diagnosis thanks to non invasive blood enzymatic and molecular studies.
|
21646031 |
2012 |
|
| Entrez Id: |
5836 |
| Gene Symbol: |
PYGL |
PYGL
|
0.720 |
CausalMutation
|
disease |
CLINVAR |
Mutations in the liver glycogen phosphorylase gene (PYGL) underlying glycogenosis type VI.
|
9529348 |
1998 |
|
| Entrez Id: |
5836 |
| Gene Symbol: |
PYGL |
PYGL
|
0.720 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
This study is the first to demonstrate that a mutation in the PYGL gene can cause GSD6.
|
9536091 |
1998 |
|
| Entrez Id: |
5836 |
| Gene Symbol: |
PYGL |
PYGL
|
0.720 |
GeneticVariation
|
disease |
BEFREE |
This study is the first to demonstrate that a mutation in the PYGL gene can cause GSD6.
|
9536091 |
1998 |
|
| Entrez Id: |
5836 |
| Gene Symbol: |
PYGL |
PYGL
|
0.720 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in the liver glycogen phosphorylase gene (PYGL) underlying glycogenosis type VI.
|
9529348 |
1998 |
|
| Entrez Id: |
5836 |
| Gene Symbol: |
PYGL |
PYGL
|
0.720 |
GeneticVariation
|
disease |
CLINVAR |
This study is the first to demonstrate that a mutation in the PYGL gene can cause GSD6.
|
9536091 |
1998 |
|
| Entrez Id: |
5836 |
| Gene Symbol: |
PYGL |
PYGL
|
0.720 |
Biomarker
|
disease |
CTD_human |
This study is the first to demonstrate that a mutation in the PYGL gene can cause GSD6.
|
9536091 |
1998 |
|
| Entrez Id: |
5836 |
| Gene Symbol: |
PYGL |
PYGL
|
0.720 |
Biomarker
|
disease |
CTD_human |
Mutations in the liver glycogen phosphorylase gene (PYGL) underlying glycogenosis type VI.
|
9529348 |
1998 |
|
| Entrez Id: |
5836 |
| Gene Symbol: |
PYGL |
PYGL
|
0.720 |
CausalMutation
|
disease |
CLINVAR |
This study is the first to demonstrate that a mutation in the PYGL gene can cause GSD6.
|
9536091 |
1998 |
|
| Entrez Id: |
5836 |
| Gene Symbol: |
PYGL |
PYGL
|
0.720 |
GermlineCausalMutation
|
disease |
ORPHANET |
|
|
|
|
| Entrez Id: |
5836 |
| Gene Symbol: |
PYGL |
PYGL
|
0.720 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|