×
Entrez Id:
55624
Gene Symbol:
POMGNT1
POMGNT1
0.700
GeneticVariation
disease
BEFREE
Novel copy number variation of POMGNT1 associated with muscle-eye-brain disease detected by next-generation sequencing.
28765568
2017
×
Entrez Id:
55624
Gene Symbol:
POMGNT1
POMGNT1
0.700
GeneticVariation
disease
CLINVAR
Carbohydrate-binding domain of the POMGnT1 stem region modulates O-mannosylation sites of α-dystroglycan.
27493216
2016
×
Entrez Id:
55624
Gene Symbol:
POMGNT1
POMGNT1
0.700
Biomarker
disease
BEFREE
Expression pattern in retinal photoreceptors of POMGnT1 , a protein involved in muscle-eye-brain disease .
27375352
2016
×
Entrez Id:
55624
Gene Symbol:
POMGNT1
POMGNT1
0.700
CausalMutation
disease
CLINVAR
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
25525159
2015
×
Entrez Id:
55624
Gene Symbol:
POMGNT1
POMGNT1
0.700
GeneticVariation
disease
BEFREE
Clinical features and molecular characterization of a patient with muscle-eye-brain disease : a novel mutation in the POMGNT1 gene.
24282183
2014
×
Entrez Id:
55624
Gene Symbol:
POMGNT1
POMGNT1
0.700
CausalMutation
disease
CLINVAR
Clinical, radiological, and genetic survey of patients with muscle-eye-brain disease caused by mutations in POMGNT1.
24731844
2014
×
Entrez Id:
55624
Gene Symbol:
POMGNT1
POMGNT1
0.700
GeneticVariation
disease
BEFREE
Congenital muscular dystrophy patients from Turkey carrying the clinical and radiologic features of muscle-eye-brain disease should be evaluated for mutations in POMGNT1 gene.
24731844
2014
×
Entrez Id:
55624
Gene Symbol:
POMGNT1
POMGNT1
0.700
GeneticVariation
disease
CLINVAR
Clinical, radiological, and genetic survey of patients with muscle-eye-brain disease caused by mutations in POMGNT1.
24731844
2014
×
Entrez Id:
55624
Gene Symbol:
POMGNT1
POMGNT1
0.700
GeneticVariation
disease
CLINVAR
Comprehensive mutation analysis for congenital muscular dystrophy: a clinical PCR-based enrichment and next-generation sequencing panel.
23326386
2013
×
Entrez Id:
55624
Gene Symbol:
POMGNT1
POMGNT1
0.700
GeneticVariation
disease
CLINVAR
Molecular diagnosis of congenital muscular dystrophies with defective glycosylation of alpha-dystroglycan using next-generation sequencing technology.
23453855
2013
×
Entrez Id:
55624
Gene Symbol:
POMGNT1
POMGNT1
0.700
GeneticVariation
disease
CLINVAR
Novel POMGnT1 mutations cause muscle-eye-brain disease in Chinese patients.
23689641
2013
×
Entrez Id:
55624
Gene Symbol:
POMGNT1
POMGNT1
0.700
GeneticVariation
disease
BEFREE
Novel POMGnT1 mutations cause muscle-eye-brain disease in Chinese patients.
23689641
2013
×
Entrez Id:
55624
Gene Symbol:
POMGNT1
POMGNT1
0.700
GeneticVariation
disease
BEFREE
We report new POMGnT1 mutations and evaluate protein expression in 3 patients and 2 foetuses with variably severe MEB features.
22554691
2012
×
Entrez Id:
55624
Gene Symbol:
POMGNT1
POMGNT1
0.700
GeneticVariation
disease
CLINVAR
ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome.
22522420
2012
×
Entrez Id:
55624
Gene Symbol:
POMGNT1
POMGNT1
0.700
GeneticVariation
disease
CLINVAR
Novel retinal findings in an infant with muscle-eye-brain disease.
25390965
2012
×
Entrez Id:
55624
Gene Symbol:
POMGNT1
POMGNT1
0.700
CausalMutation
disease
CLINVAR
Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies.
22323514
2012
×
Entrez Id:
55624
Gene Symbol:
POMGNT1
POMGNT1
0.700
GeneticVariation
disease
CLINVAR
Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies.
22323514
2012
×
Entrez Id:
55624
Gene Symbol:
POMGNT1
POMGNT1
0.700
GeneticVariation
disease
CLINVAR
Novel POMGNT1 point mutations and intragenic rearrangements associated with muscle-eye-brain disease.
22554691
2012
×
Entrez Id:
55624
Gene Symbol:
POMGNT1
POMGNT1
0.700
GeneticVariation
disease
BEFREE
Biochemical correlation of activity of the α-dystroglycan-modifying glycosyltransferase POMGnT1 with mutations in muscle-eye-brain disease .
21361872
2011
×
Entrez Id:
55624
Gene Symbol:
POMGNT1
POMGNT1
0.700
GeneticVariation
disease
CLINVAR
Biochemical correlation of activity of the α-dystroglycan-modifying glycosyltransferase POMGnT1 with mutations in muscle-eye-brain disease.
21361872
2011
×
Entrez Id:
55624
Gene Symbol:
POMGNT1
POMGNT1
0.700
GeneticVariation
disease
CLINVAR
Muscle-Eye-Brain disease.
20215985
2010
×
Entrez Id:
55624
Gene Symbol:
POMGNT1
POMGNT1
0.700
GeneticVariation
disease
CLINVAR
Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study.
19299310
2009
×
Entrez Id:
55624
Gene Symbol:
POMGNT1
POMGNT1
0.700
GeneticVariation
disease
CLINVAR
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
0.700
GeneticVariation
disease
CLINVAR
Novel synonymous substitution in POMGNT1 promotes exon skipping in a patient with congenital muscular dystrophy.
18330676
2008
×
Entrez Id:
55624
Gene Symbol:
POMGNT1
POMGNT1
0.700
GeneticVariation
disease
BEFREE
Severe muscle-eye-brain disease is associated with a homozygous mutation in the POMGnT1 gene.
17881266
2008