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 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 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 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 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 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 CTD_human