Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 55624
Gene Symbol: POMGNT1
POMGNT1 		0.900 GeneticVariation disease CLINVAR Molecular heterogeneity in fetal forms of type II lissencephaly. 17559086 2007
Entrez Id: 55624
Gene Symbol: POMGNT1
POMGNT1 		0.900 CausalMutation disease CLINVAR Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. 17878207 2007
Entrez Id: 55624
Gene Symbol: POMGNT1
POMGNT1 		0.900 CausalMutation disease CLINVAR Molecular heterogeneity in fetal forms of type II lissencephaly. 17559086 2007
Entrez Id: 55624
Gene Symbol: POMGNT1
POMGNT1 		0.900 GeneticVariation disease CLINVAR POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum. 17030669 2006
Entrez Id: 55624
Gene Symbol: POMGNT1
POMGNT1 		0.900 CausalMutation disease CLINVAR POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum. 17030669 2006
Entrez Id: 55624
Gene Symbol: POMGNT1
POMGNT1 		0.900 GeneticVariation disease UNIPROT POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum. 17030669 2006
Entrez Id: 55624
Gene Symbol: POMGNT1
POMGNT1 		0.900 CausalMutation disease CLINVAR POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease. 15466003 2004
Entrez Id: 55624
Gene Symbol: POMGNT1
POMGNT1 		0.900 GeneticVariation disease CLINVAR POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease. 15466003 2004
Entrez Id: 55624
Gene Symbol: POMGNT1
POMGNT1 		0.900 GeneticVariation disease CLINVAR POMGnT1 gene alterations in a family with neurological abnormalities. 15236414 2004
Entrez Id: 55624
Gene Symbol: POMGNT1
POMGNT1 		0.900 Biomarker disease GENOMICS_ENGLAND Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease. 12588800 2003
Entrez Id: 55624
Gene Symbol: POMGNT1
POMGNT1 		0.900 CausalMutation disease CLINVAR Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1. 11709191 2001
Entrez Id: 55624
Gene Symbol: POMGNT1
POMGNT1 		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: 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