Annotation Detail
Information
- Associated Genes
- ABCA4
- Associated Variants
-
ABCA4 p.Pro1380Leu (p.P1380L)
(
ENST00000370225.4 )
ABCA4 p.Pro1380Leu (p.P1380L) ( ENST00000370225.4 ) - Associated Disease
- Atrophic condition of skin
- Source Database
- DisGeNET
- Description
- Case 2 demonstrated atrophic fleck lesions involving the peripapillary region and central atrophy with homozygous ABCA4 mutations P1380L and P1380L.
- Pubmed
- 18854780
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00081432561624091
- Year of publication
- 2009
Drugs