Annotation Detail
Information
- Associated Genes
- CYP1B1
- Associated Variants
-
CYP1B1 p.Arg368His (p.R368H)
(
ENST00000490576.2,
ENST00000494864.1,
ENST00000610745.5,
ENST00000614273.1,
ENST00000714520.1 )
CYP1B1 p.Arg368His (p.R368H) ( ENST00000490576.2, ENST00000494864.1, ENST00000610745.5, ENST00000614273.1, ENST00000714520.1 ) - Associated Disease
- primary congenital glaucoma
- Source Database
- DisGeNET
- Description
- Identification of R368H as a predominant CYP1B1 allele causing primary congenital glaucoma in Indian patients.
- Pubmed
- 14507861
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0251681492333475
- Year of publication
- 2003
Drugs