Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs386834039
rs386834039
Entrez Id: 10103;55624
Gene Symbol: TSPAN1;POMGNT1
TSPAN1;POMGNT1
CUI: C3150412
Disease:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3 		A 0.700 GeneticVariation CLINVAR Novel POMGNT1 point mutations and intragenic rearrangements associated with muscle-eye-brain disease. 22554691 2012
dbSNP: rs386834039
rs386834039
Entrez Id: 10103;55624
Gene Symbol: TSPAN1;POMGNT1
TSPAN1;POMGNT1
CUI: C3150412
Disease:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3 		A 0.700 GeneticVariation CLINVAR POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum. 17030669 2006