Source: ALL
Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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0.700 | GeneticVariation | UNIPROT | TMEM5-associated dystroglycanopathy presenting with CMD and mild limb-girdle muscle involvement. | 27212206 | 2016 |
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0.700 | GeneticVariation | UNIPROT | The Muscular Dystrophy Gene TMEM5 Encodes a Ribitol β1,4-Xylosyltransferase Required for the Functional Glycosylation of Dystroglycan. | 27733679 | 2016 |
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0.700 | GeneticVariation | UNIPROT | The functional O-mannose glycan on α-dystroglycan contains a phospho-ribitol primed for matriglycan addition. | 27130732 | 2016 |
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0.700 | GeneticVariation | UNIPROT | Deciphering the glycosylome of dystroglycanopathies using haploid screens for lassa virus entry. | 23519211 | 2013 |
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0.700 | GeneticVariation | UNIPROT | Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly. | 23217329 | 2012 |