Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 55624
Gene Symbol: POMGNT1
POMGNT1 		0.700 Biomarker disease CTD_human
Entrez Id: 55624
Gene Symbol: POMGNT1
POMGNT1 		0.700 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 		0.700 Biomarker disease GENOMICS_ENGLAND Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease. 12588800 2003
Entrez Id: 55624
Gene Symbol: POMGNT1
POMGNT1 		0.700 CausalMutation disease CLINVAR POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease. 15466003 2004
Entrez Id: 55624
Gene Symbol: POMGNT1
POMGNT1 		0.700 GeneticVariation disease CLINVAR POMGnT1 gene alterations in a family with neurological abnormalities. 15236414 2004
Entrez Id: 55624
Gene Symbol: POMGNT1
POMGNT1 		0.700 GeneticVariation disease CLINVAR POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease. 15466003 2004
Entrez Id: 55624
Gene Symbol: POMGNT1
POMGNT1 		0.700 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 		0.700 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 		0.700 CausalMutation disease CLINVAR Molecular heterogeneity in fetal forms of type II lissencephaly. 17559086 2007
Entrez Id: 55624
Gene Symbol: POMGNT1
POMGNT1 		0.700 GeneticVariation disease CLINVAR Molecular heterogeneity in fetal forms of type II lissencephaly. 17559086 2007
Entrez Id: 55624
Gene Symbol: POMGNT1
POMGNT1 		0.700 GeneticVariation disease CLINVAR Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease. 17906881 2007
Entrez Id: 55624
Gene Symbol: POMGNT1
POMGNT1 		0.700 CausalMutation disease CLINVAR Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. 17878207 2007
Entrez Id: 55624
Gene Symbol: POMGNT1
POMGNT1 		0.700 GeneticVariation disease CLINVAR Novel synonymous substitution in POMGNT1 promotes exon skipping in a patient with congenital muscular dystrophy. 18330676 2008
Entrez Id: 55624
Gene Symbol: POMGNT1
POMGNT1 		0.700 CausalMutation disease CLINVAR Novel synonymous substitution in POMGNT1 promotes exon skipping in a patient with congenital muscular dystrophy. 18330676 2008
Entrez Id: 55624
Gene Symbol: POMGNT1
POMGNT1 		0.700 GermlineCausalMutation disease ORPHANET Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant. 18195152 2008
Entrez Id: 55624
Gene Symbol: POMGNT1
POMGNT1 		0.700 GeneticVariation disease UNIPROT Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant. 18195152 2008
Entrez Id: 55624
Gene Symbol: POMGNT1
POMGNT1 		0.700 CausalMutation disease CLINVAR Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. 19299310 2009
Entrez Id: 55624
Gene Symbol: POMGNT1
POMGNT1 		0.700 GeneticVariation disease CLINVAR An unusual presentation of muscle-eye-brain disease: severe eye abnormalities with mild muscle and brain involvement. 19679478 2009
Entrez Id: 55624
Gene Symbol: POMGNT1
POMGNT1 		0.700 GeneticVariation disease CLINVAR Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. 19299310 2009
Entrez Id: 55624
Gene Symbol: POMGNT1
POMGNT1 		0.700 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 		0.700 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 		0.700 CausalMutation disease CLINVAR Novel POMGNT1 point mutations and intragenic rearrangements associated with muscle-eye-brain disease. 22554691 2012
Entrez Id: 55624
Gene Symbol: POMGNT1
POMGNT1 		0.700 GeneticVariation disease CLINVAR Novel retinal findings in an infant with muscle-eye-brain disease. 25390965 2012
Entrez Id: 55624
Gene Symbol: POMGNT1
POMGNT1 		0.700 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 		0.700 GeneticVariation disease CLINVAR Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies. 22323514 2012