Choroideremia Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description OMIM mapping confirmed by DO. [SN]. (Human Disease Ontology, DOID_9821)
External Link https://www.disgenet.org/browser/0/1/0/C0008525
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Genes

38 genes associated with the disease Choroideremia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ACTB actin, beta
AGFG1 ArfGAP with FG repeats 1
BEST1 bestrophin 1
CCDC6 coiled-coil domain containing 6
CD14 CD14 molecule
CD99 CD99 molecule
CHM choroideremia (Rab escort protein 1)
CHML choroideremia-like (Rab escort protein 2)
EGFR epidermal growth factor receptor
EPHA2 EPH receptor A2
ERG v-ets avian erythroblastosis virus E26 oncogene homolog
F9 coagulation factor IX
GDI1 GDP dissociation inhibitor 1
IL33R interleukin 33 receptor
IMPG1 interphotoreceptor matrix proteoglycan 1
IMPG2 interphotoreceptor matrix proteoglycan 2
MPZ myelin protein zero
NOC2L nucleolar complex associated 2 homolog (S. cerevisiae)
OPN4 opsin 4
PLXNA2 plexin A2
POTEF POTE ankyrin domain family, member F
POU3F4 POU class 3 homeobox 4
PRPH2 peripherin 2 (retinal degeneration, slow)
PTCH1 patched 1
RAB27A RAB27A, member RAS oncogene family
RAB27B RAB27B, member RAS oncogene family
RAB38 RAB38, member RAS oncogene family
RAB6A RAB6A, member RAS oncogene family
RAB7A RAB7A, member RAS oncogene family
RAB7B RAB7B, member RAS oncogene family
RET ret proto-oncogene
RHO rhodopsin
RPE ribulose-5-phosphate-3-epimerase
RPE65 retinal pigment epithelium-specific protein 65kDa
TAS2R38 taste receptor, type 2, member 38
UBE3B ubiquitin protein ligase E3B
UPF1 UPF1 regulator of nonsense transcripts homolog (yeast)
ZC3HAV1 zinc finger CCCH-type, antiviral 1