Source: ALL
| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.700 | GeneticVariation | CLINVAR | Improving genetic diagnosis in Mendelian disease with transcriptome sequencing. | 28424332 | 2017 |
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|
A | 0.700 | CausalMutation | CLINVAR | Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies. | 22323514 | 2012 |
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|
A | 0.700 | CausalMutation | CLINVAR | Novel POMGNT1 point mutations and intragenic rearrangements associated with muscle-eye-brain disease. | 22554691 | 2012 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Novel POMGNT1 point mutations and intragenic rearrangements associated with muscle-eye-brain disease. | 22554691 | 2012 |
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|
A | 0.700 | GeneticVariation | CLINVAR | POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease. | 15466003 | 2004 |