Disease: Muscle eye brain disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0457133
Disease: Muscle eye brain disease
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
CUI: C0457133
Disease: Muscle eye brain disease
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
CUI: C0457133
Disease: Muscle eye brain disease
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
CUI: C0457133
Disease: Muscle eye brain disease
Muscle eye brain disease 		0.700 CausalMutation disease CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
CUI: C0457133
Disease: Muscle eye brain disease
Muscle eye brain disease 		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
CUI: C0457133
Disease: Muscle eye brain disease
Muscle eye brain disease 		0.700 CausalMutation disease CLINVAR Clinical, radiological, and genetic survey of patients with muscle-eye-brain disease caused by mutations in POMGNT1. 24731844 2014
CUI: C0457133
Disease: Muscle eye brain disease
Muscle eye brain disease 		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
CUI: C0457133
Disease: Muscle eye brain disease
Muscle eye brain disease 		0.700 GeneticVariation disease CLINVAR Clinical, radiological, and genetic survey of patients with muscle-eye-brain disease caused by mutations in POMGNT1. 24731844 2014
CUI: C0457133
Disease: Muscle eye brain disease
Muscle eye brain disease 		0.700 GeneticVariation disease CLINVAR Comprehensive mutation analysis for congenital muscular dystrophy: a clinical PCR-based enrichment and next-generation sequencing panel. 23326386 2013
CUI: C0457133
Disease: Muscle eye brain disease
Muscle eye brain disease 		0.700 GeneticVariation disease CLINVAR Molecular diagnosis of congenital muscular dystrophies with defective glycosylation of alpha-dystroglycan using next-generation sequencing technology. 23453855 2013
CUI: C0457133
Disease: Muscle eye brain disease
Muscle eye brain disease 		0.700 GeneticVariation disease CLINVAR Novel POMGnT1 mutations cause muscle-eye-brain disease in Chinese patients. 23689641 2013
CUI: C0457133
Disease: Muscle eye brain disease
Muscle eye brain disease 		0.700 GeneticVariation disease BEFREE Novel POMGnT1 mutations cause muscle-eye-brain disease in Chinese patients. 23689641 2013
CUI: C0457133
Disease: Muscle eye brain disease
Muscle eye brain disease 		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
CUI: C0457133
Disease: Muscle eye brain disease
Muscle eye brain disease 		0.700 GeneticVariation disease CLINVAR ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome. 22522420 2012
CUI: C0457133
Disease: Muscle eye brain disease
Muscle eye brain disease 		0.700 GeneticVariation disease CLINVAR Novel retinal findings in an infant with muscle-eye-brain disease. 25390965 2012
CUI: C0457133
Disease: Muscle eye brain disease
Muscle eye brain disease 		0.700 CausalMutation disease CLINVAR Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies. 22323514 2012
CUI: C0457133
Disease: Muscle eye brain disease
Muscle eye brain disease 		0.700 GeneticVariation disease CLINVAR Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies. 22323514 2012
CUI: C0457133
Disease: Muscle eye brain disease
Muscle eye brain disease 		0.700 GeneticVariation disease CLINVAR Novel POMGNT1 point mutations and intragenic rearrangements associated with muscle-eye-brain disease. 22554691 2012
CUI: C0457133
Disease: Muscle eye brain disease
Muscle eye brain disease 		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
CUI: C0457133
Disease: Muscle eye brain disease
Muscle eye brain disease 		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
CUI: C0457133
Disease: Muscle eye brain disease
Muscle eye brain disease 		0.700 GeneticVariation disease CLINVAR Muscle-Eye-Brain disease. 20215985 2010
CUI: C0457133
Disease: Muscle eye brain disease
Muscle eye brain disease 		0.700 GeneticVariation disease CLINVAR Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. 19299310 2009
CUI: C0457133
Disease: Muscle eye brain disease
Muscle eye brain disease 		0.700 GeneticVariation disease CLINVAR An unusual presentation of muscle-eye-brain disease: severe eye abnormalities with mild muscle and brain involvement. 19679478 2009
CUI: C0457133
Disease: Muscle eye brain disease
Muscle eye brain disease 		0.700 GeneticVariation disease CLINVAR Novel synonymous substitution in POMGNT1 promotes exon skipping in a patient with congenital muscular dystrophy. 18330676 2008
CUI: C0457133
Disease: Muscle eye brain disease
Muscle eye brain disease 		0.700 GeneticVariation disease BEFREE Severe muscle-eye-brain disease is associated with a homozygous mutation in the POMGnT1 gene. 17881266 2008