Annotation Detail
Information
- Associated Genes
- KCNH2
- Associated Variants
-
BBS1 p.Met390Arg (p.M390R), ENSG00000256349 p.Met427Arg (p.M427R)
(
ENST00000393994.4,
ENST00000630659.2,
ENST00000318312.12,
ENST00000455748.6,
ENST00000526986.5 )
BBS1 p.Met390Arg (p.M390R), ENSG00000256349 p.Met427Arg (p.M427R) ( ENST00000318312.12, ENST00000393994.4, ENST00000455748.6, ENST00000630659.2, ENST00000526986.5 ) - Associated Disease
- Retinal Diseases
- Source Database
- DisGeNET
- Description
- (IOVS 2006) and in the Bbs1-M390R knock-in mouse model, and expands it to the characterization of important ERG response characteristics that provide insight in the pathogenesis of retinopathy in these patients.
- Pubmed
- 22940089
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00135720936040152
- Year of publication
- 2012
Drugs