Annotation Detail
Information
- Associated Genes
- PAX6
- Associated Variants
-
PAX6 p.Arg240Ter (p.R240*)
(
ENST00000379109.7,
ENST00000379107.7,
ENST00000379129.7,
ENST00000379132.8,
ENST00000419022.6,
ENST00000241001.13,
ENST00000481563.6,
ENST00000606377.7,
ENST00000638629.1,
ENST00000638685.1,
ENST00000638696.1,
ENST00000638755.1,
ENST00000638914.3,
ENST00000638963.1,
ENST00000638965.1,
ENST00000639034.2,
ENST00000639386.2,
ENST00000639409.1,
ENST00000639548.1,
ENST00000639916.1,
ENST00000640125.1,
ENST00000640368.2,
ENST00000640610.1,
ENST00000640684.1,
ENST00000640975.1,
ENST00000643871.1 )
PAX6 p.Arg240Ter (p.R240*) ( 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, ENST00000639034.2, ENST00000639386.2, ENST00000639409.1, ENST00000639548.1, ENST00000639916.1, ENST00000640125.1, ENST00000640368.2, ENST00000640610.1, ENST00000640684.1, ENST00000640975.1, ENST00000643871.1 ) - Associated Disease
- aniridia
- Source Database
- DisGeNET
- Description
- Paired box 6 (PAX6) deficiency, both in aniridia patients with a heterozygous PAX6 R240Stop mutation and in mice with a heterozygous Pax6 R266Stop mutation, causes defective proinsulin processing and abnormal glucose metabolism.
- Pubmed
- 19034419
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.60616498129698
- Year of publication
- 2009
Drugs