Source: ALL
| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.700 | GeneticVariation | UNIPROT | Rough endoplasmic reticulum trafficking errors by different classes of mutant dentin sialophosphoprotein (DSPP) cause dominant negative effects in both dentinogenesis imperfecta and dentin dysplasia by entrapping normal DSPP. | 22392858 | 2012 |
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|
0.700 | GeneticVariation | UNIPROT | Dentinogenesis imperfecta 1 with or without progressive hearing loss is associated with distinct mutations in DSPP. | 11175790 | 2001 |