Annotation Detail
Information
- Associated Genes
- PAX6
- Associated Variants
-
PAX6 p.Lys373Ter (p.K373*)
(
ENST00000379107.7,
ENST00000241001.13,
ENST00000638965.1,
ENST00000638963.1,
ENST00000640975.1,
ENST00000640125.1,
ENST00000638755.1,
ENST00000638914.3,
ENST00000638696.1,
ENST00000638685.1,
ENST00000640368.2,
ENST00000639409.1,
ENST00000639916.1,
ENST00000419022.6,
ENST00000481563.6,
ENST00000643871.1,
ENST00000379132.8,
ENST00000606377.7,
ENST00000639386.2,
ENST00000638629.1,
ENST00000640961.2,
ENST00000379109.7,
ENST00000379129.7,
ENST00000639548.1,
ENST00000640610.1 )
PAX6 p.Lys373Ter (p.K373*) ( ENST00000241001.13, ENST00000379107.7, ENST00000379109.7, ENST00000379129.7, ENST00000379132.8, ENST00000419022.6, ENST00000481563.6, ENST00000606377.7, ENST00000638629.1, ENST00000638685.1, ENST00000638696.1, ENST00000638755.1, ENST00000638914.3, ENST00000638963.1, ENST00000638965.1, ENST00000639386.2, ENST00000639409.1, ENST00000639548.1, ENST00000639916.1, ENST00000640125.1, ENST00000640368.2, ENST00000640610.1, ENST00000640975.1, ENST00000643871.1, ENST00000640961.2 ) - Associated Disease
- Photophobia
- Source Database
- DisGeNET
- Description
- Abnormal cone ERGs in a family with congenital nystagmus and photophobia harboring a p.X423Lfs mutation in the PAX6 gene.
- Pubmed
- 25555363
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2014
Drugs