Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267606962
rs267606962
TSPAN1 ; POMGNT1
G 0.700 GeneticVariation CLINVAR Novel POMGnT1 mutations cause muscle-eye-brain disease in Chinese patients. 23689641

2013
dbSNP: rs267606962
rs267606962
TSPAN1 ; POMGNT1
G 0.700 GeneticVariation CLINVAR An unusual presentation of muscle-eye-brain disease: severe eye abnormalities with mild muscle and brain involvement. 19679478

2009
dbSNP: rs267606962
rs267606962
TSPAN1 ; POMGNT1
G 0.700 GeneticVariation CLINVAR Biochemical correlation of activity of the α-dystroglycan-modifying glycosyltransferase POMGnT1 with mutations in muscle-eye-brain disease. 21361872

2011
dbSNP: rs138642840
rs138642840
TSPAN1 ; POMGNT1
T 0.700 CausalMutation CLINVAR Comprehensive mutation analysis for congenital muscular dystrophy: a clinical PCR-based enrichment and next-generation sequencing panel. 23326386

2013
dbSNP: rs138642840
rs138642840
TSPAN1 ; POMGNT1
T 0.700 CausalMutation CLINVAR Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1. 11709191

2001
dbSNP: rs138642840
rs138642840
TSPAN1 ; POMGNT1
T 0.700 CausalMutation CLINVAR Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. 19299310

2009
dbSNP: rs1553163206
rs1553163206
TSPAN1 ; POMGNT1
T 0.700 CausalMutation CLINVAR

dbSNP: rs267606960
rs267606960
TSPAN1 ; POMGNT1
T 0.700 CausalMutation CLINVAR POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum. 17030669

2006
dbSNP: rs267606960
rs267606960
TSPAN1 ; POMGNT1
T 0.700 CausalMutation CLINVAR Molecular heterogeneity in fetal forms of type II lissencephaly. 17559086

2007
dbSNP: rs267606960
rs267606960
TSPAN1 ; POMGNT1
T 0.700 CausalMutation CLINVAR POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease. 15466003

2004
dbSNP: rs267606960
rs267606960
TSPAN1 ; POMGNT1
T 0.700 CausalMutation CLINVAR Clinical features and molecular characterization of a patient with muscle-eye-brain disease: a novel mutation in the POMGNT1 gene. 24282183

2014
dbSNP: rs267606960
rs267606960
TSPAN1 ; POMGNT1
T 0.700 CausalMutation CLINVAR Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies. 22323514

2012
dbSNP: rs267606960
rs267606960
TSPAN1 ; POMGNT1
T 0.700 CausalMutation CLINVAR Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. 17878207

2007
dbSNP: rs386834019
rs386834019
TSPAN1 ; POMGNT1
T 0.700 CausalMutation CLINVAR Biochemical correlation of activity of the α-dystroglycan-modifying glycosyltransferase POMGnT1 with mutations in muscle-eye-brain disease. 21361872

2011
dbSNP: rs386834019
rs386834019
TSPAN1 ; POMGNT1
T 0.700 CausalMutation CLINVAR POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease. 15466003

2004