Entrez Id: |
55624 |
Gene Symbol: |
POMGNT1 |
POMGNT1
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3
|
0.900 |
Biomarker |
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
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3
|
0.900 |
Biomarker |
GENOMICS_ENGLAND |
Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease.
|
12588800 |
2003 |
Entrez Id: |
55624 |
Gene Symbol: |
POMGNT1 |
POMGNT1
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3
|
0.700 |
Biomarker |
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
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3
|
0.700 |
Biomarker |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
Entrez Id: |
55624 |
Gene Symbol: |
POMGNT1 |
POMGNT1
|
RETINITIS PIGMENTOSA 76
|
0.700 |
Biomarker |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
Entrez Id: |
55624 |
Gene Symbol: |
POMGNT1 |
POMGNT1
|
RETINITIS PIGMENTOSA 76
|
0.700 |
Biomarker |
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
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3
|
0.700 |
Biomarker |
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
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3
|
0.700 |
Biomarker |
GENOMICS_ENGLAND |
Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease.
|
12588800 |
2003 |
Entrez Id: |
55624 |
Gene Symbol: |
POMGNT1 |
POMGNT1
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3
|
0.600 |
Biomarker |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
Entrez Id: |
55624 |
Gene Symbol: |
POMGNT1 |
POMGNT1
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3
|
0.600 |
Biomarker |
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
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3
|
0.600 |
Biomarker |
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
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3
|
0.600 |
Biomarker |
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
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3
|
0.600 |
Biomarker |
GENOMICS_ENGLAND |
Brain involvement in muscular dystrophies with defective dystroglycan glycosylation.
|
19067344 |
2008 |
Entrez Id: |
55624 |
Gene Symbol: |
POMGNT1 |
POMGNT1
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3
|
0.600 |
Biomarker |
GENOMICS_ENGLAND |
Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.
|
17878207 |
2007 |
Entrez Id: |
55624 |
Gene Symbol: |
POMGNT1 |
POMGNT1
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3
|
0.600 |
Biomarker |
GENOMICS_ENGLAND |
Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease.
|
12588800 |
2003 |
Entrez Id: |
55624 |
Gene Symbol: |
POMGNT1 |
POMGNT1
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3
|
0.600 |
Biomarker |
GENOMICS_ENGLAND |
|
|
|
Entrez Id: |
55624 |
Gene Symbol: |
POMGNT1 |
POMGNT1
|
Muscular Dystrophies, Limb-Girdle
|
0.340 |
Biomarker |
GENOMICS_ENGLAND |
|
|
|