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