cone-rod dystrophy Gene Set
Genes
12 genes associated with the cone-rod dystrophy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
| Symbol |
Name |
|
ABCA4
|
ATP-binding cassette, sub-family A (ABC1), member 4
|
|
ADAM9
|
ADAM metallopeptidase domain 9
|
|
ALMS1
|
Alstrom syndrome protein 1
|
|
CNNM4
|
cyclin and CBS domain divalent metal cation transport mediator 4
|
|
CRX
|
cone-rod homeobox
|
|
GUCY2D
|
guanylate cyclase 2D, membrane (retina-specific)
|
|
PCYT1A
|
phosphate cytidylyltransferase 1, choline, alpha
|
|
PROM1
|
prominin 1
|
|
RAX2
|
retina and anterior neural fold homeobox 2
|
|
RPGR
|
retinitis pigmentosa GTPase regulator
|
|
SEMA4A
|
sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A
|
|
SLC19A2
|
solute carrier family 19 (thiamine transporter), member 2
|
