choroideremia Gene Set
Genes
11 genes associated with the choroideremia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
| Symbol |
Name |
|
BEST1
|
bestrophin 1
|
|
CHM
|
choroideremia (Rab escort protein 1)
|
|
EPHA2
|
EPH receptor A2
|
|
GNAQ
|
guanine nucleotide binding protein (G protein), q polypeptide
|
|
IMPG1
|
interphotoreceptor matrix proteoglycan 1
|
|
MFRP
|
membrane frizzled-related protein
|
|
NOD2
|
nucleotide-binding oligomerization domain containing 2
|
|
PORCN
|
porcupine homolog (Drosophila)
|
|
PRPH2
|
peripherin 2 (retinal degeneration, slow)
|
|
TMEM98
|
transmembrane protein 98
|
|
UBE3B
|
ubiquitin protein ligase E3B
|
