|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Molecular heterogeneity in fetal forms of type II lissencephaly.
|
17559086 |
2007 |
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.
|
17878207 |
2007 |
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Molecular heterogeneity in fetal forms of type II lissencephaly.
|
17559086 |
2007 |
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum.
|
17030669 |
2006 |
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum.
|
17030669 |
2006 |
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum.
|
17030669 |
2006 |
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease.
|
15466003 |
2004 |
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease.
|
15466003 |
2004 |
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
POMGnT1 gene alterations in a family with neurological abnormalities.
|
15236414 |
2004 |
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease.
|
12588800 |
2003 |
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1.
|
11709191 |
2001 |
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3
|
0.900 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Walker-Warburg congenital muscular dystrophy
|
0.720 |
GermlineCausalMutation
|
disease |
ORPHANET |
Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study.
|
19299310 |
2009 |
|
Walker-Warburg congenital muscular dystrophy
|
0.720 |
GeneticVariation
|
disease |
BEFREE |
These findings emphasize the importance of considering MEB and searching for POMGnT1 mutations in WWS or other congenital muscular dystrophy patients worldwide.
|
12588800 |
2003 |
|
Walker-Warburg congenital muscular dystrophy
|
0.720 |
GeneticVariation
|
disease |
BEFREE |
Walker-Warburg Syndrome (WWS) and muscle-eye-brain disease (MEB) are caused by mutations in two genes involved in O-mannosylation, POMT1 and POMGnT1, respectively.
|
12925572 |
2003 |
|
Walker-Warburg congenital muscular dystrophy
|
0.720 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Walker-Warburg congenital muscular dystrophy
|
0.720 |
Biomarker
|
disease |
MGD |
|
|
|
|
Muscle eye brain disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Novel copy number variation of POMGNT1 associated with muscle-eye-brain disease detected by next-generation sequencing.
|
28765568 |
2017 |
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing.
|
28424332 |
2017 |
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing.
|
28424332 |
2017 |
|
RETINITIS PIGMENTOSA 76
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period.
|
28688748 |
2017 |
|
Muscle eye brain disease
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Carbohydrate-binding domain of the POMGnT1 stem region modulates O-mannosylation sites of α-dystroglycan.
|
27493216 |
2016 |
|
Muscle eye brain disease
|
0.700 |
Biomarker
|
disease |
BEFREE |
Expression pattern in retinal photoreceptors of POMGnT1, a protein involved in muscle-eye-brain disease.
|
27375352 |
2016 |
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3
|
0.700 |
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 |
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |