Disorder "Pseudoexfoliation"
Found 1 record
Disorder information
Disorder name:
Pseudoexfoliation
Disoder ID:
Definition:
Deposition of fibrillar material that can be found on all anterior segment structures bathed by aqueous humor.
Modifier statisitcs
Record:
1
Gene:
1
Variant:
1
Reference:
1
Effect type:
Penetrance(1)
Modifier effect:
Altered incidence(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| LOXL1 | LOXL1:c.*432A>G | Penetrance | Altered incidence | OR=0.63, P=6.33×10(-31) | The variant rs7173049-G mediates a protective effect through upregulation of STRA6 in ocular tissues.more | more |
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