Disorder "Primary open angle glaucoma"
Found 4 records
Disorder information
Disorder name:
Primary open angle glaucoma
Disoder ID:
OMIM entry:
Synonyms:
chronic simple glaucoma
Definition:
An open-angle glaucoma that is characterized by the absence of any apparent obstruction of aqueous outflow through the trabecular meshwork with gonioscopy, but often with elevated intraocular pressure.
Modifier statisitcs
Record:
4
Gene:
2
Variant:
4
Reference:
1
Effect type:
Expressivity(4)
Modifier effect:
Altered onset time(4)
Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
---|---|---|---|---|---|---|
COL18A1 | COL18A1:rs144147445 | Expressivity | Altered onset time | Pedigree analysis | genetic variation in COL15A1 and COL18A1 can modify the age of onset of both early and late onset POAG.more | more |
COL15A1 | COL15A1:rs10519 | Expressivity | Altered onset time | Pedigree analysis | genetic variation in COL15A1 and COL18A1 can modify the age of onset of both early and late onset POAG.more | more |
COL15A1:rs2075662 | Expressivity | Altered onset time | Pedigree analysis | genetic variation in COL15A1 and COL18A1 can modify the age of onset of both early and late onset POAG.more | more | |
COL15A1:rs61999303 | Expressivity | Altered onset time | Pedigree analysis | genetic variation in COL15A1 and COL18A1 can modify the age of onset of both early and late onset POAG.more | more |
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