hypoplasia of the iris Gene Set
Genes
13 genes associated with the hypoplasia of the iris phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
| Symbol |
Name |
|
COL4A1
|
collagen, type IV, alpha 1
|
|
ERCC6
|
excision repair cross-complementation group 6
|
|
FBN1
|
fibrillin 1
|
|
FOXC1
|
forkhead box C1
|
|
LAMB2
|
laminin, beta 2 (laminin S)
|
|
LRP2
|
low density lipoprotein receptor-related protein 2
|
|
MITF
|
microphthalmia-associated transcription factor
|
|
NDP
|
Norrie disease (pseudoglioma)
|
|
PAX3
|
paired box 3
|
|
PIK3R1
|
phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
|
|
PITX2
|
paired-like homeodomain 2
|
|
SOX10
|
SRY (sex determining region Y)-box 10
|
|
STIM1
|
stromal interaction molecule 1
|
