Annotation Detail
Information
- Associated Genes
- MYOC
- Associated Variants
-
CYP1B1 p.Gly61Glu (p.G61E)
(
ENST00000490576.2,
ENST00000494864.1,
ENST00000610745.5,
ENST00000614273.1,
ENST00000714520.1 )
CYP1B1 p.Gly61Glu (p.G61E) ( ENST00000490576.2, ENST00000494864.1, ENST00000610745.5, ENST00000614273.1, ENST00000714520.1 ) - Associated Disease
- hydrophthalmos
- Source Database
- DisGeNET
- Description
- The phenotype segregated with homozygous p.G61E CYP1B1 mutations while MYOC mutation was not detected, illustrating that mutations in CYP1B1 rather than mutation in MYOC can underlie familial primary juvenile glaucoma in certain populations.
- Pubmed
- 21596299
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00481000882732476
- Year of publication
- 2011
Drugs