Annotation Detail
Information
- Associated Genes
- PARP1
- Associated Variants
-
PARP1 MUTATION
PARP1 MUTATION - Associated Disease
- keratoconus
- Source Database
- DisGeNET
- Description
- Neither the g.46438521G>C polymorphism of the Nei endonuclease VIII-like 1 (NEIL1) nor the c.2285T>C polymorphism of the poly(ADP-ribose) polymerase-1 (PARP-1) was associated with KC.
- Pubmed
- 25356504
- 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
- 9
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
Drugs