Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2218
Gene Symbol: FKTN
FKTN 		0.900 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
Entrez Id: 2218
Gene Symbol: FKTN
FKTN 		0.900 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
Entrez Id: 2218
Gene Symbol: FKTN
FKTN 		0.900 Biomarker disease MGD Residual laminin-binding activity and enhanced dystroglycan glycosylation by LARGE in novel model mice to dystroglycanopathy. 19017726 2009
Entrez Id: 2218
Gene Symbol: FKTN
FKTN 		0.900 GeneticVariation disease UNIPROT Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. 19299310 2009
Entrez Id: 2218
Gene Symbol: FKTN
FKTN 		0.900 GeneticVariation disease UNIPROT Four Caucasian patients with mutations in the fukutin gene and variable clinical phenotype. 19179078 2009
Entrez Id: 2218
Gene Symbol: FKTN
FKTN 		0.900 GeneticVariation disease UNIPROT Two new patients bearing mutations in the fukutin gene confirm the relevance of this gene in Walker-Warburg syndrome. 18177472 2008
Entrez Id: 2218
Gene Symbol: FKTN
FKTN 		0.900 Biomarker disease GENOMICS_ENGLAND Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. 17878207 2007
Entrez Id: 2218
Gene Symbol: FKTN
FKTN 		0.900 CausalMutation disease CLINVAR A homozygous nonsense mutation in the fukutin gene causes a Walker-Warburg syndrome phenotype. 14627679 2003
Entrez Id: 2218
Gene Symbol: FKTN
FKTN 		0.900 GeneticVariation disease UNIPROT A homozygous nonsense mutation in the fukutin gene causes a Walker-Warburg syndrome phenotype. 14627679 2003
Entrez Id: 2218
Gene Symbol: FKTN
FKTN 		0.900 CausalMutation disease CLINVAR Structural organization, complete genomic sequences and mutational analyses of the Fukuyama-type congenital muscular dystrophy gene, fukutin. 11165248 2001
Entrez Id: 2218
Gene Symbol: FKTN
FKTN 		0.900 GeneticVariation disease CLINVAR
Entrez Id: 2218
Gene Symbol: FKTN
FKTN 		0.900 Biomarker disease CTD_human
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: 55624
Gene Symbol: POMGNT1
POMGNT1 		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: 55624
Gene Symbol: POMGNT1
POMGNT1 		0.200 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: 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: 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