Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397514544
rs397514544
0.700 GeneticVariation UNIPROT TMEM5-associated dystroglycanopathy presenting with CMD and mild limb-girdle muscle involvement. 27212206

2016

dbSNP: rs397514544
rs397514544
0.700 GeneticVariation UNIPROT The Muscular Dystrophy Gene TMEM5 Encodes a Ribitol β1,4-Xylosyltransferase Required for the Functional Glycosylation of Dystroglycan. 27733679

2016

dbSNP: rs397514544
rs397514544
0.700 GeneticVariation UNIPROT The functional O-mannose glycan on α-dystroglycan contains a phospho-ribitol primed for matriglycan addition. 27130732

2016

dbSNP: rs397514544
rs397514544
0.700 GeneticVariation UNIPROT Deciphering the glycosylome of dystroglycanopathies using haploid screens for lassa virus entry. 23519211

2013

dbSNP: rs397514544
rs397514544
0.700 GeneticVariation UNIPROT Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly. 23217329

2012