Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 79147
Gene Symbol: FKRP
FKRP 		0.200 Biomarker disease MGD Degree of Cajal-Retzius Cell Mislocalization Correlates with the Severity of Structural Brain Defects in Mouse Models of Dystroglycanopathy. 26306834 2016
Entrez Id: 11041
Gene Symbol: B4GAT1
B4GAT1 		0.200 Biomarker disease MGD Dystroglycan organizes axon guidance cue localization and axonal pathfinding. 23217742 2012
Entrez Id: 79147
Gene Symbol: FKRP
FKRP 		0.200 Biomarker disease MGD Fukutin-related protein is essential for mouse muscle, brain and eye development and mutation recapitulates the wide clinical spectrums of dystroglycanopathies. 20675713 2010
Entrez Id: 2218
Gene Symbol: FKTN
FKTN 		0.200 Biomarker disease MGD Residual laminin-binding activity and enhanced dystroglycan glycosylation by LARGE in novel model mice to dystroglycanopathy. 19017726 2009
Entrez Id: 9215
Gene Symbol: LARGE1
LARGE1 		0.200 Biomarker disease MGD Ocular abnormalities in Large(myd) and Large(vls) mice, spontaneous models for muscle, eye, and brain diseases. 16111892 2005
Entrez Id: 10585
Gene Symbol: POMT1
POMT1 		0.200 Biomarker disease MGD
Entrez Id: 55624
Gene Symbol: POMGNT1
POMGNT1 		0.900 CausalMutation disease CLINVAR Improving genetic diagnosis in Mendelian disease with transcriptome sequencing. 28424332 2017
Entrez Id: 55624
Gene Symbol: POMGNT1
POMGNT1 		0.900 GeneticVariation disease CLINVAR Improving genetic diagnosis in Mendelian disease with transcriptome sequencing. 28424332 2017
Entrez Id: 55624
Gene Symbol: POMGNT1
POMGNT1 		0.900 Biomarker disease MGD Degree of Cajal-Retzius Cell Mislocalization Correlates with the Severity of Structural Brain Defects in Mouse Models of Dystroglycanopathy. 26306834 2016
Entrez Id: 55624
Gene Symbol: POMGNT1
POMGNT1 		0.900 CausalMutation disease CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784 2016
Entrez Id: 55624
Gene Symbol: POMGNT1
POMGNT1 		0.900 CausalMutation disease CLINVAR 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 		0.900 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 		0.900 CausalMutation 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 		0.900 GeneticVariation disease CLINVAR Novel POMGnT1 mutations cause muscle-eye-brain disease in Chinese patients. 23689641 2013
Entrez Id: 55624
Gene Symbol: POMGNT1
POMGNT1 		0.900 Biomarker disease MGD A phenotype survey of 36 mutant mouse strains with gene-targeted defects in glycosyltransferases or glycan-binding proteins. 23118208 2013
Entrez Id: 55624
Gene Symbol: POMGNT1
POMGNT1 		0.900 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 		0.900 GeneticVariation disease CLINVAR Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies. 22323514 2012
Entrez Id: 55624
Gene Symbol: POMGNT1
POMGNT1 		0.900 GeneticVariation disease CLINVAR Novel retinal findings in an infant with muscle-eye-brain disease. 25390965 2012
Entrez Id: 55624
Gene Symbol: POMGNT1
POMGNT1 		0.900 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 		0.900 Biomarker disease 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 		0.900 CausalMutation disease CLINVAR Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies. 22323514 2012
Entrez Id: 55624
Gene Symbol: POMGNT1
POMGNT1 		0.900 CausalMutation 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 		0.900 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 		0.900 CausalMutation disease CLINVAR Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. 19299310 2009
Entrez Id: 55624
Gene Symbol: POMGNT1
POMGNT1 		0.900 GeneticVariation disease UNIPROT Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. 19299310 2009