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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Choroidal Neovascularization
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Accession:DOID:9001044 term browser browse the term
Definition:A pathological process consisting of the formation of new blood vessels in the CHOROID.
Synonyms:exact_synonym: Choroid Neovascularization;   Choroid Neovascularizations;   Choroidal Neovascularizations
 primary_id: MESH:D020256;   RDO:0007376


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Choroidal Neovascularization term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adipoq adiponectin, C1Q and collagen domain containing treatment ISO
IDA
IEP		 RGD PMID:17466298 PMID:22633972 PMID:16689928 RGD:8694464, RGD:8695931, RGD:2289282 NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564 		JBrowse link
G Aoc3 amine oxidase, copper containing 3 IMP RGD PMID:18436961 RGD:2313908 NCBI chr10:86,272,757...86,280,702 JBrowse link
G Bmp4 bone morphogenetic protein 4 ISO RGD PMID:21411747 PMID:22392094 RGD:8699493, RGD:8699501 NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306 		JBrowse link
G C5 complement C5 ISO RGD PMID:16849499 RGD:7411733 NCBI chr 3:18,270,696...18,361,994
Ensembl chr 3:18,270,696...18,361,994 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 treatment ISO RGD PMID:17389519 RGD:8548832 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226 		JBrowse link
G Ccr2 C-C motif chemokine receptor 2 ISO RGD PMID:22205983 RGD:8657364 NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100 		JBrowse link
G Ccr3 C-C motif chemokine receptor 3 ISO RGD PMID:19525930 RGD:6893454 NCBI chr 8:123,586,100...123,634,178
Ensembl chr 8:123,616,236...123,634,990 		JBrowse link
G Cfb complement factor B ISO RGD PMID:16849499 RGD:7411733 NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505 		JBrowse link
G Cfh complement factor H treatment ISO DNA:SNPs:cds:p.Y402H,I62V(human)
associated with myopia;DNA:SNP: :rs1061170(human)		 RGD PMID:23258212 PMID:22536038 PMID:22678500 RGD:7364943, RGD:7365031, RGD:7365030 NCBI chr13:51,512,376...51,613,829
Ensembl chr13:51,511,828...51,613,838 		JBrowse link
G Dll4 delta like canonical Notch ligand 4 treatment IEP RGD PMID:21063852 RGD:12859045 NCBI chr 3:106,317,114...106,327,004
Ensembl chr 3:106,316,986...106,326,931 		JBrowse link
G F7 coagulation factor VII treatment ISO mouse protein in a rat model RGD PMID:19357351 PMID:19357351 RGD:2312299, RGD:2312299 NCBI chr16:76,489,775...76,500,636
Ensembl chr16:76,489,717...76,500,610 		JBrowse link
G Fgf2 fibroblast growth factor 2 treatment IEP RGD PMID:10359334 RGD:8655568 NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221 		JBrowse link
G Flt1 Fms related receptor tyrosine kinase 1 treatment ISO
IMP		 RGD PMID:10849558 PMID:23804076 PMID:23977149 RGD:10402112, RGD:10402115, RGD:10402113 NCBI chr12:7,296,899...7,468,626
Ensembl chr12:7,297,292...7,468,626 		JBrowse link
G Gli1 GLI family zinc finger 1 treatment IEP RGD PMID:21063852 RGD:12859045 NCBI chr 7:63,156,926...63,169,579
Ensembl chr 7:63,156,926...63,169,251 		JBrowse link
G Hgf hepatocyte growth factor IEP protein:increased expression:choroidal tissue: RGD PMID:19013152 RGD:8548599 NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409 		JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha treatment IEP RGD PMID:21063852 RGD:12859045 NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261 		JBrowse link
G Htra1 HtrA serine peptidase 1 no_association ISO DNA:snp:promoter:g.-625G>A (rs11200638) (human)
human gene in mouse model
associated with Myopia; DNA:snp:promoter:g.-625G>A (rs11200638) (human)		 RGD PMID:18682806 PMID:21844367 PMID:19680273 RGD:7394694, RGD:7394749, RGD:7394720 NCBI chr 1:185,497,815...185,547,380
Ensembl chr 1:185,497,735...185,547,379 		JBrowse link
G Icam1 intercellular adhesion molecule 1 IEP mRNA:increased expression:retina, choroid, sclera (rat) RGD PMID:20497436 RGD:4145405 NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438 		JBrowse link
G Igf1r insulin-like growth factor 1 receptor treatment ISO RGD PMID:19032681 RGD:10045869 NCBI chr 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777 		JBrowse link
G Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta treatment ISO RGD PMID:24489934 RGD:10045942 NCBI chr16:69,319,487...69,373,251
Ensembl chr16:69,319,554...69,373,250 		JBrowse link
G Il10 interleukin 10 treatment ISO RGD PMID:22802947 PMID:16903779 RGD:7364853, RGD:7365068 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313 		JBrowse link
G Il2 interleukin 2 treatment ISO associated with Macular Degeneration;protein:decreased expression:aqueous humor: RGD PMID:19262441 RGD:10047086 NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566 		JBrowse link
G Itgav integrin subunit alpha V IMP RGD PMID:15287373 RGD:1582458 NCBI chr 3:68,838,514...68,926,653
Ensembl chr 3:68,838,189...68,926,639 		JBrowse link
G Jam3 junctional adhesion molecule 3 treatment ISO RGD PMID:22323465 RGD:7488935 NCBI chr 8:25,508,461...25,569,306
Ensembl chr 8:25,507,057...25,569,355 		JBrowse link
G Kdr kinase insert domain receptor treatment ISO
IDA
IMP		 RGD PMID:19085383 PMID:15249365 PMID:18436847 PMID:22997228 PMID:12937991 RGD:8549713, RGD:8549747, RGD:8549741, RGD:8549738, RGD:8549716 NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018 		JBrowse link
G Lep leptin IEP associated with Metabolic Syndrome X;mRNA:increased expression:retina (rat) RGD PMID:25380250 RGD:10053625 NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262 		JBrowse link
G Loxl1 lysyl oxidase-like 1 ISO RGD PMID:18296663 RGD:7394725 NCBI chr 8:58,691,763...58,716,365
Ensembl chr 8:58,692,593...58,716,356 		JBrowse link
G Mmp13 matrix metallopeptidase 13 ISO RGD PMID:20700625 PMID:20700625 RGD:10043118, RGD:10043118 NCBI chr 8:4,497,960...4,508,239
Ensembl chr 8:4,497,960...4,508,239 		JBrowse link
G Mmp2 matrix metallopeptidase 2 treatment ISO
IDA		 RGD PMID:21666238 PMID:25314292 RGD:8657062, RGD:13207327 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870 		JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment ISO
IDA		 protein:increased expression:plasma RGD PMID:12368198 PMID:25314292 PMID:17304258 RGD:8547840, RGD:13207327, RGD:8657061 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Ptch1 patched 1 IEP mRNA,protein:increased expression:choroid: RGD PMID:21063852 RGD:12859045 NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333 		JBrowse link
G RT1-CE13 RT1 class I, locus CE13 susceptibility ISO associated with Macular Degeneration; DNA:polymorphisms:cds:HLA-B27 (human) RGD PMID:19728932 RGD:7365097 NCBI chr20:3,314,830...3,318,106 JBrowse link
G Serpinf1 serpin family F member 1 treatment IEP
ISO		 human gene in a mouse model
human protein in a rat model
protein:increased expression:aqueous humor (human)		 RGD PMID:15312607 PMID:12037010 PMID:19778186 PMID:19850839 PMID:16490490 More... RGD:2312356, RGD:28867245, RGD:27226711, RGD:8655557, RGD:8554883, RGD:8554866 NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646 		JBrowse link
G Sod1 superoxide dismutase 1 ISO RGD PMID:16844785 RGD:1581207 NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 treatment ISO associated with Diabetes Mellitus, Experimental RGD PMID:17525280 PMID:23094067 RGD:8694307, RGD:10403057 NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057 		JBrowse link
G Tlr2 toll-like receptor 2 ISO associated with Chlamydophila Infections; RGD PMID:20393111 RGD:8552825 NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630 		JBrowse link
G Tymp thymidine phosphorylase IEP RGD PMID:12556409 RGD:2293727 NCBI chr 7:120,438,768...120,444,088
Ensembl chr 7:120,438,770...120,443,874
Ensembl chr 7:120,438,770...120,443,874 		JBrowse link
G Tyr tyrosinase ISO ClinVar Annotator: match by term: Choroidal neovascularization ClinVar PMID:666627 PMID:1429711 PMID:1820207 PMID:7704033 PMID:7955413 More... NCBI chr 1:141,115,036...141,210,207
Ensembl chr 1:141,115,036...141,210,207 		JBrowse link
G Vegfa vascular endothelial growth factor A treatment ISO
IEP		 CTD Direct Evidence: marker/mechanism
mRNA,protein:increased expression:choroidal tissue,retina:		 CTD
RGD		 PMID:16680105 PMID:20237252 PMID:19013152 PMID:16723717 RGD:7483614, RGD:8548599, RGD:8548459 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641 		JBrowse link
G Vegfb vascular endothelial growth factor B ISO RGD PMID:19369214 RGD:2314323 NCBI chr 1:204,172,297...204,178,046
Ensembl chr 1:204,172,225...204,177,944 		JBrowse link
Choroidal Neovascularization, Experimental term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dll4 delta like canonical Notch ligand 4 treatment IEP RGD PMID:21526177 RGD:155663484 NCBI chr 3:106,317,114...106,327,004
Ensembl chr 3:106,316,986...106,326,931 		JBrowse link
G Serpine1 serpin family E member 1 treatment
severity		 ISO
IDA		 mRNA:increased expression:retina (mouse)
human gene in mouse model		 RGD PMID:12766088 PMID:26610445 PMID:11292663 PMID:12766088 RGD:8547735, RGD:11073722, RGD:8547737, RGD:8547735 NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657 		JBrowse link
G Smo smoothened, frizzled class receptor treatment IMP RGD PMID:21063852 RGD:12859045 NCBI chr 4:58,343,626...58,373,823
Ensembl chr 4:58,343,529...58,373,829 		JBrowse link
Polypoidal Choroidal Vasculopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C2 complement C2 susceptibility ISO DNA:SNP:intron:c.1360+62G>T (rs547154) (human) RGD PMID:22232432 RGD:7411694 NCBI chr20:3,951,474...3,970,376
Ensembl chr20:3,951,474...3,976,505 		JBrowse link
G Cfb complement factor B susceptibility ISO DNA:snp:intron:c.1169-69T>C (rs541862) (human) RGD PMID:22232432 RGD:7411694 NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505 		JBrowse link
G Cfh complement factor H susceptibility
no_association		 ISO DNA:SNP, missense mutation:promoter, cds:g.-257C>T, p.I62V (rs3753394, rs800292) (human)
DNA:missense mutation:cds:p.Y402H (rs1061170) (human)		 RGD PMID:18515590 PMID:18515590 RGD:7411726, RGD:7411726 NCBI chr13:51,512,376...51,613,829
Ensembl chr13:51,511,828...51,613,838 		JBrowse link
G Crp C-reactive protein ISO RGD PMID:17400294 RGD:9491775 NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178 		JBrowse link
G Eln elastin susceptibility
no_association		 ISO DNA:SNP,haplotype: :rs2301995(human)
DNA:SNP: :rs2301995(human) 		RGD PMID:18326737 PMID:21391811 RGD:9585729, RGD:9585730 NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928 		JBrowse link
G Htra1 HtrA serine peptidase 1 susceptibility ISO human gene in mouse model
DNA:snp:promoter:g.-625G>A (rs11200638) (human)		 RGD PMID:21844367 PMID:23326481 RGD:7394749, RGD:7394751 NCBI chr 1:185,497,815...185,547,380
Ensembl chr 1:185,497,735...185,547,379 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO protein:increased expression:serum RGD PMID:23559867 RGD:8547885 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:serum RGD PMID:23559867 RGD:8547885 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Vegfa vascular endothelial growth factor A susceptibility ISO DNA:SNP,haplotype: :rs833069(human) RGD PMID:22307775 RGD:7483605 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19134
    sensory system disease 7373
      eye disease 3721
        Ocular Neovascularization 66
          Choroidal Neovascularization 45
            Choroidal Neovascularization, Experimental 3
            Polypoidal Choroidal Vasculopathy 9
Path 2
Term Annotations click to browse term
  disease 19134
    disease of anatomical entity 18447
      nervous system disease 14355
        Neurologic Manifestations 10445
          sensory system disease 7373
            eye disease 3721
              uveal disease 242
                choroid disease 63
                  Choroidal Neovascularization 45
                    Choroidal Neovascularization, Experimental 3
                    Polypoidal Choroidal Vasculopathy 9
paths to the root