Annotation Detail
Information
- Associated Genes
- PTPRC
- Associated Variants
-
PTPRC MUTATION
PTPRC MUTATION - Associated Disease
- retinal degeneration
- Source Database
- DisGeNET
- Description
- These results suggest that LCA-associated NMNAT1 mutants are more vulnerable to stressful conditions that lead to protein unfolding, a potential contributor to the retinal degeneration observed in this syndrome.
- Pubmed
- 26018082
- Section of the abstract supporting the evidence
- ALL_TEXT_3/3
- Number of the section of the abstract supporting the evidence
- 3
- Number of the sentence supporting the evidence
- 7
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
Drugs