Source: ALL
| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.800 | CausalMutation | CLINVAR | Clinical features and molecular characterization of a patient with muscle-eye-brain disease: a novel mutation in the POMGNT1 gene. | 24282183 | 2014 |
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|
T | 0.800 | CausalMutation | CLINVAR | Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies. | 22323514 | 2012 |
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|
0.800 | GeneticVariation | UNIPROT | Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. | 19299310 | 2009 |
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|
0.800 | GeneticVariation | UNIPROT | Brain involvement in muscular dystrophies with defective dystroglycan glycosylation. | 19067344 | 2008 |
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|
T | 0.800 | CausalMutation | CLINVAR | Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. | 17878207 | 2007 |
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|
T | 0.800 | CausalMutation | CLINVAR | Molecular heterogeneity in fetal forms of type II lissencephaly. | 17559086 | 2007 |
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|
T | 0.800 | CausalMutation | CLINVAR | POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum. | 17030669 | 2006 |
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|
0.800 | GeneticVariation | UNIPROT | POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum. | 17030669 | 2006 |
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|
T | 0.800 | CausalMutation | CLINVAR | POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease. | 15466003 | 2004 |