abnormality of the retinal vasculature Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An arterial or venous retinal vascular anomaly. (Human Phenotype Ontology, HP_0008046)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0008046
Similar Terms
Downloads & Tools

Genes

113 genes associated with the abnormality of the retinal vasculature 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
ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6
ACVRL1 activin A receptor type II-like 1
AIPL1 aryl hydrocarbon receptor interacting protein-like 1
AKT1 v-akt murine thymoma viral oncogene homolog 1
ARL2BP ADP-ribosylation factor-like 2 binding protein
ARL6 ADP-ribosylation factor-like 6
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BEST1 bestrophin 1
C2ORF71 chromosome 2 open reading frame 71
C8ORF37 chromosome 8 open reading frame 37
CA4 carbonic anhydrase IV
CAPN5 calpain 5
CDHR1 cadherin-related family member 1
CERKL ceramide kinase-like
CLCNKB chloride channel, voltage-sensitive Kb
CLIP2 CAP-GLY domain containing linker protein 2
CLRN1 clarin 1
CNGA1 cyclic nucleotide gated channel alpha 1
CNGB1 cyclic nucleotide gated channel beta 1
COL4A1 collagen, type IV, alpha 1
CRB1 crumbs family member 1, photoreceptor morphogenesis associated
CRX cone-rod homeobox
CTC1 CTS telomere maintenance complex component 1
DHDDS dehydrodolichyl diphosphate synthase
DNM2 dynamin 2
DUX4 double homeobox 4
ELN elastin
ENG endoglin
ETHE1 ethylmalonic encephalopathy 1
EYS eyes shut homolog (Drosophila)
FAM161A family with sequence similarity 161, member A
FRG1 FSHD region gene 1
FSCN2 fascin actin-bundling protein 2, retinal
FZD4 frizzled class receptor 4
GCDH glutaryl-CoA dehydrogenase
GDF2 growth differentiation factor 2
GNAQ guanine nucleotide binding protein (G protein), q polypeptide
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
GUCA1B guanylate cyclase activator 1B (retina)
IDH3B isocitrate dehydrogenase 3 (NAD+) beta
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
IMPDH1 IMP (inosine 5'-monophosphate) dehydrogenase 1
IMPG2 interphotoreceptor matrix proteoglycan 2
KIZ kizuna centrosomal protein
KLHL7 kelch-like family member 7
KLLN killin, p53-regulated DNA replication inhibitor
KRIT1 KRIT1, ankyrin repeat containing
KRT71 keratin 71, type II
KRT74 keratin 74, type II
LIMK1 LIM domain kinase 1
LIPH lipase, member H
LPAR6 lysophosphatidic acid receptor 6
LRAT lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
LRP5 low density lipoprotein receptor-related protein 5
MAK male germ cell-associated kinase
MERTK MER proto-oncogene, tyrosine kinase
MYD88 myeloid differentiation primary response 88
NDP Norrie disease (pseudoglioma)
NEK2 NIMA-related kinase 2
NF2 neurofibromin 2 (merlin)
NMNAT1 nicotinamide nucleotide adenylyltransferase 1
NOTCH3 notch 3
NR2E3 nuclear receptor subfamily 2, group E, member 3
NRL neural retina leucine zipper
OFD1 oral-facial-digital syndrome 1
PDE6A phosphodiesterase 6A, cGMP-specific, rod, alpha
PDE6B phosphodiesterase 6B, cGMP-specific, rod, beta
PDE6G phosphodiesterase 6G, cGMP-specific, rod, gamma
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PRCD progressive rod-cone degeneration
PROM1 prominin 1
PRPF3 pre-mRNA processing factor 3
PRPF31 pre-mRNA processing factor 31
PRPF4 pre-mRNA processing factor 4
PRPF6 pre-mRNA processing factor 6
PRPF8 pre-mRNA processing factor 8
PRPH2 peripherin 2 (retinal degeneration, slow)
PTEN phosphatase and tensin homolog
RBP3 retinol binding protein 3, interstitial
RDH12 retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
RFC2 replication factor C (activator 1) 2, 40kDa
RGR retinal G protein coupled receptor
RHO rhodopsin
RLBP1 retinaldehyde binding protein 1
ROM1 retinal outer segment membrane protein 1
RP1 retinitis pigmentosa 1 (autosomal dominant)
RP2 retinitis pigmentosa 2 (X-linked recessive)
RP9 retinitis pigmentosa 9 (autosomal dominant)
RPE65 retinal pigment epithelium-specific protein 65kDa
RPGR retinitis pigmentosa GTPase regulator
RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1
SAG S-antigen; retina and pineal gland (arrestin)
SDHB succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
SDHC succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa
SDHD succinate dehydrogenase complex, subunit D, integral membrane protein
SEMA4A sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A
SLC7A14 solute carrier family 7, member 14
SMAD4 SMAD family member 4
SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1
SNRNP200 small nuclear ribonucleoprotein 200kDa (U5)
SPATA7 spermatogenesis associated 7
TBL2 transducin (beta)-like 2
TINF2 TERF1 (TRF1)-interacting nuclear factor 2
TOPORS topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase
TREX1 three prime repair exonuclease 1
TTC8 tetratricopeptide repeat domain 8
TUB tubby bipartite transcription factor
TULP1 tubby like protein 1
USH2A Usher syndrome 2A (autosomal recessive, mild)
VHL von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
ZNF513 zinc finger protein 513