Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
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
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
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
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 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 Biomarker disease BEFREE CMDs associated with brain malformations such as MEB, WWS and FCMD are heterogenous in clinical presentation and on radiologic examination, suggesting that POMGnT1 assays of muscle biopsies should be used as a screening procedure for MEB in all CMD patients associated with brain malformations. 12849864 2003
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 GeneticVariation disease BEFREE Both linkage analysis of the POMGNT1/1p32-p34 region and direct sequencing for the novel familial mutation (R605H) demonstrated that the fetus did not have MEB. 17154333 2007
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
CUI: C0457133
Disease: Muscle eye brain disease
Muscle eye brain disease 		0.700 GeneticVariation disease BEFREE Muscle-eye-brain disease is a congenital muscular dystrophy with eye and brain involvement due to POMGnT1 mutations. 17030669 2006
CUI: C0457133
Disease: Muscle eye brain disease
Muscle eye brain disease 		0.700 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
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 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 BEFREE Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease. 17906881 2007
CUI: C0457133
Disease: Muscle eye brain disease
Muscle eye brain disease 		0.700 GeneticVariation disease BEFREE We subsequently found that loss of function of the POMGnT1 gene is responsible for muscle-eye-brain disease (MEB). 14646163 2003
CUI: C0457133
Disease: Muscle eye brain disease
Muscle eye brain disease 		0.700 GeneticVariation disease BEFREE We also identified six independent mutations of the POMGnT1 gene in six patients with MEB. 11709191 2001
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 GeneticVariation disease BEFREE Mutations in protein-O-mannose-beta1,2-N-acetylglucosaminyltransferase 1 (POMGnT1) have been found in muscle-eye-brain disease, a congenital muscular dystrophy with structural eye and brain defects and severe mental retardation. 18195152 2008
CUI: C0457133
Disease: Muscle eye brain disease
Muscle eye brain disease 		0.700 Biomarker disease BEFREE These results clearly demonstrate that MEB is inherited as a loss-of-function of POMGnT1. 12788071 2003
CUI: C0457133
Disease: Muscle eye brain disease
Muscle eye brain disease 		0.700 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
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: C0686353
Disease: Muscular Dystrophies, Limb-Girdle
Muscular Dystrophies, Limb-Girdle 		0.340 GeneticVariation group BEFREE In contrast mutations in fukutin and POMGnT1 were detected in four patients with LGMD and no evidence of brain involvement. 17878207 2007
CUI: C0686353
Disease: Muscular Dystrophies, Limb-Girdle
Muscular Dystrophies, Limb-Girdle 		0.340 GeneticVariation group BEFREE Promoter alteration causes transcriptional repression of the POMGNT1 gene in limb-girdle muscular dystrophy type 2O. 22419172 2012
CUI: C0686353
Disease: Muscular Dystrophies, Limb-Girdle
Muscular Dystrophies, Limb-Girdle 		0.340 GeneticVariation group BEFREE Our findings widen the spectrum of disorders known to result from mutations in POMGnT1 to include limb-girdle muscular dystrophy with no mental retardation. 18195152 2008
CUI: C0686353
Disease: Muscular Dystrophies, Limb-Girdle
Muscular Dystrophies, Limb-Girdle 		0.340 Biomarker group BEFREE The secondary α-dystroglycanopathies usually present in infancy as congenital muscular dystrophies but may manifest later in childhood or adult life (limb-girdle muscular dystrophy (LGMD) 2I, LGMD2K, LGMD2M, LGMD2N, and LGMD2O). 21496628 2011
CUI: C2936406
Disease: alpha-Dystroglycanopathies
alpha-Dystroglycanopathies 		0.330 Biomarker disease BEFREE At present, of the six proteins involved on alpha-dystroglycanopathies, the function of the gene products is only known for POMT1, POMT2, and POMGnT1, all responsible for the O-mannosylglycan biosynthesis. 20816175 2010