MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3, C3151519
Source: ALL
| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.800 | GeneticVariation | UNIPROT | Consensus statement on standard of care for congenital muscular dystrophies. | 21078917 | 2010 |
||||
|
0.800 | GeneticVariation | UNIPROT | Brain involvement in muscular dystrophies with defective dystroglycan glycosylation. | 19067344 | 2008 |
||||
|
0.800 | GeneticVariation | UNIPROT | POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum. | 17030669 | 2006 |
||||
|
0.800 | GeneticVariation | UNIPROT | POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease. | 15466003 | 2004 |
||||
|
0.800 | GeneticVariation | UNIPROT | Structure-function analysis of human protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase 1, POMGnT1. | 15207699 | 2004 |
||||
|
0.800 | GeneticVariation | UNIPROT | POMGnT1 gene alterations in a family with neurological abnormalities. | 15236414 | 2004 |
||||
|
0.800 | GeneticVariation | UNIPROT | Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease. | 12588800 | 2003 |
||||
|
0.800 | GeneticVariation | UNIPROT | Loss-of-function of an N-acetylglucosaminyltransferase, POMGnT1, in muscle-eye-brain disease. | 12788071 | 2003 |
||||
|
0.800 | GeneticVariation | UNIPROT | Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1. | 11709191 | 2001 |
||||
|
T | 0.800 | CausalMutation | CLINVAR |