Disorder "Axenfeld-Rieger syndrome"
Found 1 record
Disorder information
Disorder name:
Axenfeld-Rieger syndrome
Disoder ID:
Synonyms:
Axenfeld syndrome, Rieger's anomaly, Anomaly, Rieger's, RGS - Rieger syndrome
Definition:
An autosomal dominant disease characterized by abnormalities of the front part of the eye, the anterior segment.
Modifier statisitcs
Record:
1
Gene:
1
Variant:
1
Reference:
1
Effect type:
Expressivity(1)
Modifier effect:
Altered gene activity(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| FOXC1 | FOXC1:rs35717904 | Expressivity | Altered gene activity | Gene activity study | the variant is a modifier factor for the activity of coding glaucoma-associated FOXC1 mutations.more | more |
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