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 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 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 CausalMutation disease CLINVAR Molecular heterogeneity in fetal forms of type II lissencephaly. 17559086 2007
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 Molecular heterogeneity in fetal forms of type II lissencephaly. 17559086 2007
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 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 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 Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies. 22323514 2012
Entrez Id: 55624
Gene Symbol: POMGNT1
POMGNT1 		0.700 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 		0.700 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 		0.700 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 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 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 		0.700 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 		0.700 GeneticVariation disease CLINVAR POMGnT1 gene alterations in a family with neurological abnormalities. 15236414 2004
Entrez Id: 55624
Gene Symbol: POMGNT1
POMGNT1 		0.700 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 		0.700 GeneticVariation disease CLINVAR Novel POMGnT1 mutations cause muscle-eye-brain disease in Chinese patients. 23689641 2013
Entrez Id: 55624
Gene Symbol: POMGNT1
POMGNT1 		0.700 GeneticVariation disease CLINVAR Improving genetic diagnosis in Mendelian disease with transcriptome sequencing. 28424332 2017
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 GeneticVariation disease CLINVAR POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease. 15466003 2004
Entrez Id: 55624
Gene Symbol: POMGNT1
POMGNT1 		0.700 CausalMutation disease CLINVAR Improving genetic diagnosis in Mendelian disease with transcriptome sequencing. 28424332 2017
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 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 Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. 19299310 2009