Source: ALL
| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
C | 0.700 | GeneticVariation | CLINVAR | The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation. | 16575835 | 2006 |
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|
C | 0.700 | GeneticVariation | CLINVAR | Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome. | 15637732 | 2005 |
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|
C | 0.700 | GeneticVariation | CLINVAR | Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. | 12369018 | 2002 |