Disorder "Angle-Closure Glaucoma"
Found 1 record
Disorder information
Disorder name:
Angle-Closure Glaucoma
Disoder ID:
Definition:
A type of glaucomatous optic neuropathy in an eye that has evidence of angle closure (i.e. significant iridotrabecular contact).
Modifier statisitcs
Record:
1
Gene:
1
Variant:
1
Reference:
1
Effect type:
Expressivity(1)
Modifier effect:
Altered susceptibility(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| COL11A1 | COL11A1:c.4004C>T(p.Pro1335Leu) | Expressivity | Altered susceptibility | gg vs aa: odds ratio 1.26, 95% confidence interval 1.13-1.41; gg vs ga + aa: odds ratio 1.24, 95% confidence interval 1.12-1.38 | COL11A1 variant rs3753841 may confer higher susceptibility to PACGmore | more |
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