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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 RGD PMID:16689928 PMID:17466298 PMID:22633972 RGD:2289282 RGD:8694464 RGD:8695931 NCBI chr13:124,633,906...124,646,237
Ensembl chr13:124,633,685...124,646,646 		JBrowse link
G BMP4 bone morphogenetic protein 4 ISO RGD PMID:21411747 PMID:22392094 RGD:8699493 RGD:8699501 NCBI chr 1:183,415,989...183,422,888
Ensembl chr 1:183,416,146...183,422,637 		JBrowse link
G C5 complement C5 ISO RGD PMID:16849499 RGD:7411733 NCBI chr 1:260,995,662...261,088,868
Ensembl chr 1:260,995,668...261,133,483 		JBrowse link
G CCL2 chemokine (C-C motif) ligand 2 treatment ISO RGD PMID:17389519 RGD:8548832 NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,026 		JBrowse link
G CCR2 C-C motif chemokine receptor 2 ISO RGD PMID:22205983 RGD:8657364 NCBI chr13:29,368,735...29,374,564
Ensembl chr13:29,285,012...29,376,343 		JBrowse link
G CCR2 C-C motif chemokine receptor 2 ISO associated with Macular Degeneration RGD PMID:19525930 RGD:6893454 NCBI chr13:29,251,950...29,286,470
Ensembl chr13:29,285,012...29,376,343 		JBrowse link
G CFB complement factor B ISO RGD PMID:16849499 RGD:7411733 NCBI chr 7:24,034,077...24,040,523
Ensembl chr 7:24,033,740...24,041,179 		JBrowse link
G CFH complement factor H treatment ISO associated with myopia;DNA:SNP: :rs1061170(human)
DNA:SNPs:cds:p.Y402H,I62V(human)		 RGD PMID:22536038 PMID:22678500 PMID:23258212 RGD:7364943 RGD:7365030 RGD:7365031
G DLL4 delta like canonical Notch ligand 4 treatment ISO RGD PMID:21063852 RGD:12859045 NCBI chr 1:130,376,720...130,386,411
Ensembl chr 1:130,376,721...130,386,411 		JBrowse link
G F7 coagulation factor VII ISO mouse protein in a rat model RGD PMID:19357351 RGD:2312299 NCBI chr11:78,512,389...78,518,668
Ensembl chr11:78,512,137...78,518,668 		JBrowse link
G FGF2 fibroblast growth factor 2 treatment ISO RGD PMID:10359334 RGD:8655568 NCBI chr 8:101,278,877...101,344,084
Ensembl chr 8:101,278,885...101,343,916 		JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 treatment ISO RGD PMID:10849558 PMID:23804076 PMID:23977149 RGD:10402112 RGD:10402113 RGD:10402115 NCBI chr11:5,620,698...5,797,095
Ensembl chr11:5,621,212...5,795,264 		JBrowse link
G GLI1 GLI family zinc finger 1 treatment ISO RGD PMID:21063852 RGD:12859045 NCBI chr 5:22,736,325...22,747,421
Ensembl chr 5:22,739,900...22,747,421 		JBrowse link
G HGF hepatocyte growth factor ISO protein:increased expression:choroidal tissue: RGD PMID:19013152 RGD:8548599 NCBI chr 9:98,437,771...98,513,573
Ensembl chr 9:98,438,143...98,513,564 		JBrowse link
G HIF1A hypoxia inducible factor 1 subunit alpha treatment ISO RGD PMID:21063852 RGD:12859045 NCBI chr 1:190,625,436...190,673,926
Ensembl chr 1:190,625,244...190,674,845 		JBrowse link
G HTRA1 HtrA serine peptidase 1 no_association ISO associated with Myopia; DNA:snp:promoter:g.-625G>A (rs11200638) (human)
human gene in mouse model		 RGD PMID:18682806 PMID:19680273 PMID:21844367 RGD:7394694 RGD:7394720 RGD:7394749 NCBI chr14:132,043,044...132,103,590
Ensembl chr14:132,041,934...132,103,595 		JBrowse link
G ICAM1 intercellular adhesion molecule 1 ISO mRNA:increased expression:retina, choroid, sclera (rat) RGD PMID:20497436 RGD:4145405 NCBI chr 2:69,097,136...69,107,722
Ensembl chr 2:69,097,122...69,108,205 		JBrowse link
G IGF1R insulin like growth factor 1 receptor treatment ISO RGD PMID:19032681 RGD:10045869 NCBI chr 1:137,383,623...137,691,038
Ensembl chr 1:137,387,825...137,691,058 		JBrowse link
G IKBKB inhibitor of nuclear factor kappa B kinase subunit beta treatment ISO RGD PMID:24489934 RGD:10045942 NCBI chr17:11,289,607...11,348,557
Ensembl chr17:11,289,690...11,348,549 		JBrowse link
G IL10 interleukin 10 treatment ISO RGD PMID:16903779 PMID:22802947 RGD:7364853 RGD:7365068 NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,728...67,405,378 		JBrowse link
G IL2 interleukin 2 treatment ISO associated with Macular Degeneration;protein:decreased expression:aqueous humor: RGD PMID:19262441 RGD:10047086 NCBI chr 8:101,640,938...101,645,683
Ensembl chr 8:101,640,944...101,645,609 		JBrowse link
G ITGAV integrin subunit alpha V ISO RGD PMID:15287373 RGD:1582458 NCBI chr15:91,604,666...91,711,843
Ensembl chr15:91,604,676...91,711,851 		JBrowse link
G JAM3 junctional adhesion molecule 3 treatment ISO RGD PMID:22323465 RGD:7488935 NCBI chr 9:60,629,245...60,738,979
Ensembl chr 9:60,613,400...60,738,924 		JBrowse link
G KDR kinase insert domain receptor treatment ISO RGD PMID:12937991 PMID:15249365 PMID:18436847 PMID:19085383 PMID:22997228 RGD:8549713 RGD:8549716 RGD:8549738 RGD:8549741 RGD:8549747 NCBI chr 8:41,809,116...41,856,379
Ensembl chr 8:41,809,122...41,856,336 		JBrowse link
G LEP leptin ISO associated with Metabolic Syndrome X;mRNA:increased expression:retina (rat) RGD PMID:25380250 RGD:10053625 NCBI chr18:20,106,867...20,124,071
Ensembl chr18:20,106,868...20,123,323 		JBrowse link
G LOC110256000 membrane primary amine oxidase-like ISO RGD PMID:18436961 RGD:2313908 NCBI chr12:19,996,324...20,007,006 JBrowse link
G LOXL1 lysyl oxidase like 1 ISO RGD PMID:18296663 RGD:7394725 NCBI chr 7:59,481,410...59,505,161
Ensembl chr 7:59,481,412...59,505,149 		JBrowse link
G MMP13 matrix metallopeptidase 13 ISO RGD PMID:20700625 RGD:10043118 NCBI chr 9:33,549,003...33,616,700
Ensembl chr 9:33,549,008...33,561,162 		JBrowse link
G MMP2 matrix metallopeptidase 2 treatment ISO RGD PMID:21666238 PMID:25314292 RGD:13207327 RGD:8657062 NCBI chr 6:30,059,247...30,087,031
Ensembl chr 6:30,058,595...30,086,982 		JBrowse link
G MMP9 matrix metallopeptidase 9 treatment ISO protein:increased expression:plasma RGD PMID:12368198 PMID:17304258 PMID:25314292 RGD:13207327 RGD:8547840 RGD:8657061 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788 		JBrowse link
G PTCH1 patched 1 ISO mRNA,protein:increased expression:choroid: RGD PMID:21063852 RGD:12859045 NCBI chr10:26,627,165...26,703,225
Ensembl chr10:26,627,425...26,703,223 		JBrowse link
G SERPINF1 serpin family F member 1 treatment ISO human protein in a rat model
protein:increased expression:aqueous humor (human)
human gene in a mouse model		 RGD PMID:11424092 PMID:12037010 PMID:15312607 PMID:16490490 PMID:19778186 More... RGD:2312356 RGD:27226711 RGD:28867245 RGD:8554866 RGD:8554883 RGD:8655557 NCBI chr12:47,949,004...47,959,471
Ensembl chr12:47,948,510...47,959,470 		JBrowse link
G SOD1 superoxide dismutase 1 ISO RGD PMID:16844785 RGD:1581207 NCBI chr13:195,326,573...195,335,273
Ensembl chr13:195,326,649...195,337,729 		JBrowse link
G STAT3 signal transducer and activator of transcription 3 treatment ISO associated with Diabetes Mellitus, Experimental RGD PMID:17525280 PMID:23094067 RGD:10403057 RGD:8694307 NCBI chr12:20,407,316...20,471,091
Ensembl chr12:20,407,233...20,472,992 		JBrowse link
G TLR2 toll like receptor 2 ISO associated with Chlamydophila Infections; RGD PMID:20393111 RGD:8552825 NCBI chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,993...75,428,330 		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 9:22,517,047...22,604,290
Ensembl chr 9:22,517,047...22,604,290 		JBrowse link
G VEGFA vascular endothelial growth factor A treatment ISO CTD Direct Evidence: marker/mechanism
mRNA,protein:increased expression:choroidal tissue,retina:		 CTD
RGD		 PMID:16680105 PMID:16723717 PMID:19013152 PMID:20237252 RGD:7483614 RGD:8548459 RGD:8548599 NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,366 		JBrowse link
G VEGFB vascular endothelial growth factor B ISO RGD PMID:19369214 RGD:2314323 NCBI chr 2:7,872,873...7,876,149
Ensembl chr 2:7,872,870...7,876,118 		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 ISO RGD PMID:21526177 RGD:155663484 NCBI chr 1:130,376,720...130,386,411
Ensembl chr 1:130,376,721...130,386,411 		JBrowse link
G SERPINE1 serpin family E member 1 treatment
severity		 ISO human gene in mouse model
mRNA:increased expression:retina (mouse)		 RGD PMID:11292663 PMID:12766088 PMID:26610445 RGD:11073722 RGD:8547735 RGD:8547737 NCBI chr 3:8,863,738...8,871,572
Ensembl chr 3:8,863,695...8,871,547 		JBrowse link
G SMO smoothened, frizzled class receptor treatment ISO RGD PMID:21063852 RGD:12859045 NCBI chr18:19,450,730...19,478,796
Ensembl chr18:19,450,743...19,478,898 		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 chr 7:24,020,590...24,034,042
Ensembl chr 7:23,995,982...24,033,930 		JBrowse link
G CFB complement factor B susceptibility ISO DNA:snp:intron:c.1169-69T>C (rs541862) (human) RGD PMID:22232432 RGD:7411694 NCBI chr 7:24,034,077...24,040,523
Ensembl chr 7:24,033,740...24,041,179 		JBrowse link
G CFH complement factor H no_association
susceptibility		 ISO DNA:missense mutation:cds:p.Y402H (rs1061170) (human)
DNA:SNP, missense mutation:promoter, cds:g.-257C>T, p.I62V (rs3753394, rs800292) (human)		 RGD PMID:18515590 RGD:7411726
G CRP C-reactive protein, pentraxin-related ISO RGD PMID:17400294 RGD:9491775 NCBI chr 4:90,793,361...90,801,020
Ensembl chr 4:90,793,350...90,805,218 		JBrowse link
G ELN elastin no_association
susceptibility		 ISO DNA:SNP: :rs2301995(human)
DNA:SNP,haplotype: :rs2301995(human) 		RGD PMID:18326737 PMID:21391811 RGD:9585729 RGD:9585730 NCBI chr 3:11,214,194...11,245,891
Ensembl chr 3:11,214,205...11,244,897 		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 chr14:132,043,044...132,103,590
Ensembl chr14:132,041,934...132,103,595 		JBrowse link
G MMP2 matrix metallopeptidase 2 ISO protein:increased expression:serum RGD PMID:23559867 RGD:8547885 NCBI chr 6:30,059,247...30,087,031
Ensembl chr 6:30,058,595...30,086,982 		JBrowse link
G MMP9 matrix metallopeptidase 9 ISO protein:increased expression:serum RGD PMID:23559867 RGD:8547885 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788 		JBrowse link
G VEGFA vascular endothelial growth factor A susceptibility ISO DNA:SNP,haplotype: :rs833069(human) RGD PMID:22307775 RGD:7483605 NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,366 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17412
    sensory system disease 6515
      eye disease 3329
        Ocular Neovascularization 64
          Choroidal Neovascularization 43
            Choroidal Neovascularization, Experimental 3
            Polypoidal Choroidal Vasculopathy 9
Path 2
Term Annotations click to browse term
  disease 17412
    disease of anatomical entity 14875
      nervous system disease 12962
        Neurologic Manifestations 9422
          sensory system disease 6515
            eye disease 3329
              uveal disease 222
                choroid disease 65
                  Choroidal Neovascularization 43
                    Choroidal Neovascularization, Experimental 3
                    Polypoidal Choroidal Vasculopathy 9
paths to the root