G61E
G61E · SaudiVarKB evidence summary derived from retained literature mentions.
4Variant mentions
4Publications
6Associated gene records
1Associated phenotype records
Associated gene records
Co-mentioned in the same publicationsAssociated phenotype records
Co-mentioned in the same publications| Phenotype | Identifier / context | Articles | Mentions |
|---|---|---|---|
| primary congenital glaucoma | — | 4 | 4 |
Associated population records
Co-mentioned in the same publications| Population | Identifier / context | Articles | Mentions |
|---|---|---|---|
| Saudi Arabia | Cohort 54 | 1 | 1 |
| Saudi Arabia | Cohort 11 | 1 | 1 |
| Saudi Arabia | Cohort 32 | 1 | 1 |
| Saudi Arabia | Cohort 25 | 1 | 1 |
Supporting publications
4 records- 2011Screening of CYP1B1 and LTBP2 genes in Saudi families with primary congenital glaucoma: genotype-phenotype correlation.Molecular vision1 mentions
- 2004Molecular basis of Peters anomaly in Saudi Arabia.Ophthalmic genetics1 mentions
- 2002A novel frameshift founder mutation in the cytochrome P450 1B1 (CYP1B1) gene is associated with primary congenital glaucoma in Morocco.Clinical genetics1 mentions
- 2000Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus.Human molecular genetics1 mentions