| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.710 | GeneticVariation | BEFREE | The R141H mutation in the PMM2 gene is the most frequent mutation in type Ia of the congenital disorders of glycosylation (formerly carbohydrate-deficient glycoprotein syndromes)(CDG-Ia). | 10854097 | 2000 |
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|
A | 0.710 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | Genomic diagnosis for children with intellectual disability and/or developmental delay. | 28554332 | 2017 |
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|
T | 0.700 | CausalMutation | CLINVAR | Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy. | 27172925 | 2016 |
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|
T | 0.700 | CausalMutation | CLINVAR | Congenital nephrotic syndrome in an infant with ALG1-congenital disorder of glycosylation. | 27325525 | 2016 |
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|
T | 0.700 | CausalMutation | CLINVAR | Congenital nephrotic syndrome with dysmorphic features and death in early infancy: Answers. | 25956699 | 2016 |
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|
T | 0.700 | CausalMutation | CLINVAR | ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients. | 26931382 | 2016 |
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|
T | 0.700 | CausalMutation | CLINVAR | Deficiency of GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase causes congenital disorder of glycosylation type Ik. | 14973778 | 2004 |
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|
T | 0.700 | CausalMutation | CLINVAR | This was supported by the finding that this CDG patient was compound heterozygous for three mutations in the ALG1 gene, leading to the amino acid substitutions S150R and D429E on one allele and S258L on the other. | 14709599 | 2004 |
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|
T | 0.700 | CausalMutation | CLINVAR | Congenital disorder of glycosylation type Ik (CDG-Ik): a defect of mannosyltransferase I. | 14973782 | 2004 |
|||
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
G | 0.700 | GeneticVariation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
CTG | 0.700 | GeneticVariation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
G | 0.700 | GeneticVariation | CLINVAR | ||||||
|
G | 0.700 | GeneticVariation | CLINVAR |