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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
For additional species annotation, visit the Alliance of Genome Resources.


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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 chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
JBrowse link
G Aoc3 amine oxidase, copper containing 3 IMP RGD PMID:18436961 RGD:2313908 NCBI chr10:89,251,370...89,259,313
Ensembl chr10:89,251,370...89,259,313
JBrowse link
G Bmp4 bone morphogenetic protein 4 ISO RGD PMID:21411747, PMID:22392094 RGD:8699493, RGD:8699501 NCBI chr15:20,776,060...20,791,013
Ensembl chr15:20,776,054...20,822,740
JBrowse link
G C5 complement C5 ISO RGD PMID:16849499 RGD:7411733 NCBI chr 3:14,049,993...14,113,931
NCBI chr 3:14,206,466...14,229,141
Ensembl chr 3:14,049,995...14,229,080
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 treatment ISO RGD PMID:17389519 RGD:8548832 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Ccr2 C-C motif chemokine receptor 2 ISO RGD PMID:22205983 RGD:8657364
G Ccr3 C-C motif chemokine receptor 3 ISO RGD PMID:19525930 RGD:6893454 NCBI chr 8:133,026,539...133,040,999
Ensembl chr 8:133,029,625...133,040,997
JBrowse link
G Cfb complement factor B ISO RGD PMID:16849499 RGD:7411733 NCBI chr20:4,536,206...4,542,073
Ensembl chr20:4,536,203...4,561,066
Ensembl chr20:4,536,203...4,561,066
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 chr13:56,979,155...57,080,540
Ensembl chr13:56,978,607...57,080,622
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 chr16:81,824,610...81,834,923
Ensembl chr16:81,824,111...81,834,945
JBrowse link
G Fgf2 fibroblast growth factor 2 treatment IEP RGD PMID:10359334 RGD:8655568 NCBI chr 2:124,081,072...124,134,133
Ensembl chr 2:124,081,072...124,134,681
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 chr12:9,033,993...9,205,886
Ensembl chr12:9,034,308...9,205,905
JBrowse link
G Hgf hepatocyte growth factor IEP protein:increased expression:choroidal tissue: RGD PMID:19013152 RGD:8548599 NCBI chr 4:15,435,460...15,505,377
Ensembl chr 4:15,433,295...15,505,362
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 1:201,499,067...201,548,508
Ensembl chr 1:201,499,028...201,548,513
JBrowse link
G Icam1 intercellular adhesion molecule 1 IEP mRNA:increased expression:retina, choroid, sclera (rat) RGD PMID:20497436 RGD:4145405 NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
JBrowse link
G Igf1r insulin-like growth factor 1 receptor treatment ISO RGD PMID:19032681 RGD:10045869 NCBI chr 1:128,924,921...129,213,816
Ensembl chr 1:128,924,966...129,206,516
JBrowse link
G Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta treatment ISO RGD PMID:24489934 RGD:10045942 NCBI chr16:74,177,233...74,230,809
Ensembl chr16:74,177,215...74,230,815
JBrowse link
G Il10 interleukin 10 treatment ISO RGD PMID:22802947, PMID:16903779 RGD:7364853, RGD:7365068 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Il2 interleukin 2 treatment ISO associated with Macular Degeneration;protein:decreased expression:aqueous humor: RGD PMID:19262441 RGD:10047086 NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
JBrowse link
G Itgav integrin subunit alpha V IMP RGD PMID:15287373 RGD:1582458 NCBI chr 3:71,113,269...71,205,958
Ensembl chr 3:71,114,100...71,202,411
JBrowse link
G Jam3 junctional adhesion molecule 3 treatment ISO RGD PMID:22323465 RGD:7488935 NCBI chr 8:28,147,110...28,208,466
Ensembl chr 8:28,147,111...28,208,466
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 chr14:34,727,677...34,787,127
Ensembl chr14:34,727,623...34,787,183
JBrowse link
G Lep leptin IEP associated with Metabolic Syndrome X;mRNA:increased expression:retina (rat) RGD PMID:25380250 RGD:10053625 NCBI chr 4:56,337,695...56,351,818
Ensembl chr 4:56,337,695...56,351,818
JBrowse link
G Loxl1 lysyl oxidase-like 1 ISO RGD PMID:18296663 RGD:7394725 NCBI chr 8:63,067,757...63,092,124
Ensembl chr 8:63,067,300...63,092,009
JBrowse link
G Mmp13 matrix metallopeptidase 13 ISO RGD PMID:20700625, PMID:20700625 RGD:10043118, RGD:10043118 NCBI chr 8:5,522,739...5,533,018
Ensembl chr 8:5,522,739...5,533,018
JBrowse link
G Mmp2 matrix metallopeptidase 2 treatment ISO
IDA
RGD PMID:21666238, PMID:25314292 RGD:8657062, RGD:13207327 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
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 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
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
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, PMID:11424092 RGD:2312356, RGD:28867245, RGD:27226711, RGD:8655557, RGD:8554883, RGD:8554866 NCBI chr10:62,241,750...62,254,145
Ensembl chr10:62,241,756...62,254,287
JBrowse link
G Sod1 superoxide dismutase 1 ISO RGD PMID:16844785 RGD:1581207 NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
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 chr10:88,790,401...88,842,263
Ensembl chr10:88,790,408...88,842,233
JBrowse link
G Tlr2 toll-like receptor 2 ISO associated with Chlamydophila Infections; RGD PMID:20393111 RGD:8552825 NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
JBrowse link
G Tymp thymidine phosphorylase IEP RGD PMID:12556409 RGD:2293727 NCBI chr 7:130,342,481...130,347,845
Ensembl chr 7:130,342,483...130,347,587
JBrowse link
G Tyr tyrosinase ISO ClinVar Annotator: match by term: Choroidal neovascularization ClinVar PMID:666627, PMID:1429711, PMID:1820207, PMID:7704033, PMID:9158138, PMID:10766867, PMID:17952075, PMID:18326704, PMID:18488027, PMID:18488028, PMID:18925668, PMID:19208379, PMID:19533789, PMID:21541274, PMID:23504663, PMID:25216246, PMID:25741868, PMID:30311386 NCBI chr 1:151,012,598...151,106,802
Ensembl chr 1:151,012,598...151,106,802
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 PMID:16680105, PMID:20237252, PMID:19013152, PMID:16723717 RGD:7483614, RGD:8548599, RGD:8548459 NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
JBrowse link
G Vegfb vascular endothelial growth factor B ISO RGD PMID:19369214 RGD:2314323 NCBI chr 1:222,237,000...222,242,786
Ensembl chr 1:222,239,022...222,242,644
JBrowse link
Choroidal Neovascularization, Experimental term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
JBrowse link
G Smo smoothened, frizzled class receptor treatment IMP RGD PMID:21063852 RGD:12859045 NCBI chr 4:57,019,941...57,041,779
Ensembl chr 4:57,019,941...57,042,770
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 chr20:4,542,340...4,561,152
Ensembl chr20:4,542,340...4,561,152
JBrowse link
G Cfb complement factor B susceptibility ISO DNA:snp:intron:c.1169-69T>C (rs541862) (human) RGD PMID:22232432 RGD:7411694 NCBI chr20:4,536,206...4,542,073
Ensembl chr20:4,536,203...4,561,066
Ensembl chr20:4,536,203...4,561,066
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 chr13:56,979,155...57,080,540
Ensembl chr13:56,978,607...57,080,622
JBrowse link
G Crp C-reactive protein ISO RGD PMID:17400294 RGD:9491775 NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
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 chr12:24,978,478...25,021,864
Ensembl chr12:24,978,483...25,021,863
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 1:201,499,067...201,548,508
Ensembl chr 1:201,499,028...201,548,513
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO protein:increased expression:serum RGD PMID:23559867 RGD:8547885 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:serum RGD PMID:23559867 RGD:8547885 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Vegfa vascular endothelial growth factor A susceptibility ISO DNA:SNP,haplotype: :rs833069(human) RGD PMID:22307775 RGD:7483605 NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    sensory system disease 5213
      eye disease 2652
        Ocular Neovascularization 64
          Choroidal Neovascularization 41
            Choroidal Neovascularization, Experimental 2
            Polypoidal Choroidal Vasculopathy 9
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        sensory system disease 5213
          eye disease 2652
            uveal disease 227
              choroid disease 59
                Choroidal Neovascularization 41
                  Choroidal Neovascularization, Experimental 2
                  Polypoidal Choroidal Vasculopathy 9
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.