|
| Entrez Id: |
55624 |
| Gene Symbol: |
POMGNT1 |
POMGNT1
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
|
| Entrez Id: |
55624 |
| Gene Symbol: |
POMGNT1 |
POMGNT1
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mechanistic aspects of the formation of α-dystroglycan and therapeutic research for the treatment of α-dystroglycanopathy: A review.
|
27421908 |
2016 |
|
| Entrez Id: |
55624 |
| Gene Symbol: |
POMGNT1 |
POMGNT1
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Promoter alteration causes transcriptional repression of the POMGNT1 gene in limb-girdle muscular dystrophy type 2O.
|
22419172 |
2012 |
|
| Entrez Id: |
55624 |
| Gene Symbol: |
POMGNT1 |
POMGNT1
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
An unusual presentation of muscle-eye-brain disease: severe eye abnormalities with mild muscle and brain involvement.
|
19679478 |
2009 |
|
| Entrez Id: |
55624 |
| Gene Symbol: |
POMGNT1 |
POMGNT1
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Brain involvement in muscular dystrophies with defective dystroglycan glycosylation.
|
19067344 |
2008 |
|
| Entrez Id: |
55624 |
| Gene Symbol: |
POMGNT1 |
POMGNT1
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Brain involvement in muscular dystrophies with defective dystroglycan glycosylation.
|
19067344 |
2008 |
|
| Entrez Id: |
55624 |
| Gene Symbol: |
POMGNT1 |
POMGNT1
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.
|
17878207 |
2007 |
|
| Entrez Id: |
55624 |
| Gene Symbol: |
POMGNT1 |
POMGNT1
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum.
|
17030669 |
2006 |
|
| Entrez Id: |
55624 |
| Gene Symbol: |
POMGNT1 |
POMGNT1
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease.
|
15466003 |
2004 |
|
| Entrez Id: |
55624 |
| Gene Symbol: |
POMGNT1 |
POMGNT1
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
POMGnT1 gene alterations in a family with neurological abnormalities.
|
15236414 |
2004 |
|
| Entrez Id: |
55624 |
| Gene Symbol: |
POMGNT1 |
POMGNT1
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Structure-function analysis of human protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase 1, POMGnT1.
|
15207699 |
2004 |
|
| Entrez Id: |
55624 |
| Gene Symbol: |
POMGNT1 |
POMGNT1
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease.
|
12588800 |
2003 |
|
| Entrez Id: |
55624 |
| Gene Symbol: |
POMGNT1 |
POMGNT1
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease.
|
12588800 |
2003 |
|
| Entrez Id: |
55624 |
| Gene Symbol: |
POMGNT1 |
POMGNT1
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Loss-of-function of an N-acetylglucosaminyltransferase, POMGnT1, in muscle-eye-brain disease.
|
12788071 |
2003 |
|
| Entrez Id: |
55624 |
| Gene Symbol: |
POMGNT1 |
POMGNT1
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1.
|
11709191 |
2001 |
|
| Entrez Id: |
55624 |
| Gene Symbol: |
POMGNT1 |
POMGNT1
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
| Entrez Id: |
55624 |
| Gene Symbol: |
POMGNT1 |
POMGNT1
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
|
|
|