Annotation Detail
Information
- Associated Genes
- MSMO1
- Associated Variants
-
MSMO1 MUTATION
MSMO1 MUTATION - Associated Disease
- Bilateral cataracts (disorder)
- Source Database
- DisGeNET
- Description
- Significantly, 8/36 (22%) DRGs are associated with cataracts in human (GSTO1, MGST1, SC4MOL, UCHL1) or mouse (Aldh3a1, Crygf, Hspb1, Pcbd1), suggesting a multifactorial etiology that includes oxidative stress and misregulation of sterol synthesis.
- Pubmed
- 25896808
- 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
- 8
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
Drugs