Annotation Detail
Information
- Associated Genes
- CYP1B1
- 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
- Glaucoma of childhood
- Source Database
- DisGeNET
- Description
- Familial juvenile glaucoma with underlying homozygous p.G61E CYP1B1 mutations.
- Pubmed
- 21596299
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00135720936040152
- Year of publication
- 2011
Drugs