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: Neovascularization, Pathologic
Accession: DOID:9003204
browse the term
Definition: A pathologic process consisting of the proliferation of blood vessels in abnormal tissues or in abnormal positions.
Synonyms: exact_synonym: Pathologic Angiogenesis; Pathological Angiogenesis; Pathological Neovascularization
primary_id: MESH:D009389 ; RDO:0003942
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Bmi1
Bmi1 polycomb ring finger oncogene
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23383216
NCBI chr 2:18,681,953...18,691,440
Ensembl chr 2:18,681,829...18,691,440
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Clu
clusterin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16308731
NCBI chr14:66,206,093...66,218,992
Ensembl chr14:66,205,932...66,218,996
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Kdr
kinase insert domain protein receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17533168
NCBI chr 5:76,093,487...76,139,880
Ensembl chr 5:76,093,487...76,139,118
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Pecam1
platelet/endothelial cell adhesion molecule 1
treatment
IDA
Ocular Neovascularization
RGD
PMID:20538980
RGD:11541082
NCBI chr11:106,545,039...106,606,107
Ensembl chr11:106,545,043...106,641,454
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Serpine1
serine (or cysteine) peptidase inhibitor, clade E, member 1
ISO
associated with carcinoma, non-small-cell lung; protein:increased expression:lung
RGD
PMID:17207889
RGD:4144038
NCBI chr 5:137,090,358...137,101,126
Ensembl chr 5:137,090,358...137,101,122
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Spp1
secreted phosphoprotein 1
IDA
RGD
PMID:11920639
RGD:1581359
NCBI chr 5:104,582,977...104,588,919
Ensembl chr 5:104,582,984...104,588,916
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Tek
TEK receptor tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17533168
NCBI chr 4:94,627,322...94,763,213
Ensembl chr 4:94,627,526...94,763,213
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Tnfsf10
tumor necrosis factor (ligand) superfamily, member 10
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:19509267 PMID:21209944
NCBI chr 3:27,371,226...27,393,814
Ensembl chr 3:27,371,177...27,396,576
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Vegfa
vascular endothelial growth factor A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12399228 PMID:17533168
NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295
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Adipoq
adiponectin, C1Q and collagen domain containing
treatment
IDA ISO
RGD
PMID:17466298 PMID:22633972 PMID:16689928
RGD:8694464 , RGD:8695931 , RGD:2289282
NCBI chr16:22,965,286...22,976,718
Ensembl chr16:22,965,286...22,976,778
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Aoc3
amine oxidase, copper containing 3
ISO
RGD
PMID:18436961
RGD:2313908
NCBI chr11:101,221,432...101,230,256
Ensembl chr11:101,221,431...101,232,764
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Bmp4
bone morphogenetic protein 4
IEP IDA
RGD
PMID:21411747 PMID:22392094
RGD:8699493 , RGD:8699501
NCBI chr14:46,620,982...46,628,126
Ensembl chr14:46,620,977...46,628,126
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Ccl2
C-C motif chemokine ligand 2
treatment
IDA
RGD
PMID:17389519
RGD:8548832
NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279
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Ccr2
C-C motif chemokine receptor 2
IMP
RGD
PMID:22205983
RGD:8657364
NCBI chr 9:123,901,954...123,913,594
Ensembl chr 9:123,901,987...123,913,594
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Ccr3
C-C motif chemokine receptor 3
IMP
RGD
PMID:19525930
RGD:6893454
NCBI chr 9:123,817,799...123,831,729
Ensembl chr 9:123,822,009...123,831,726
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Cfb
complement factor B
IMP
RGD
PMID:16849499
RGD:7411733
NCBI chr17:35,075,350...35,081,492
Ensembl chr17:35,075,350...35,081,494
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Cfh
complement component 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 chr 1:140,013,593...140,111,149
Ensembl chr 1:140,012,446...140,111,502
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Dll4
delta like canonical Notch ligand 4
treatment
ISO
RGD
PMID:21063852
RGD:12859045
NCBI chr 2:119,156,286...119,166,145
Ensembl chr 2:119,156,265...119,166,443
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F7
coagulation factor VII
IDA
mouse protein in a rat model
RGD
PMID:19357351
RGD:2312299
NCBI chr 8:13,075,499...13,085,809
Ensembl chr 8:13,076,034...13,085,809
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Fgf2
fibroblast growth factor 2
treatment
ISO
RGD
PMID:10359334
RGD:8655568
NCBI chr 3:37,402,616...37,464,255
Ensembl chr 3:37,402,495...37,464,257
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Flt1
FMS-like tyrosine kinase 1
treatment
ISO IMP
RGD
PMID:10849558 PMID:23804076 PMID:23977149
RGD:10402112 , RGD:10402115 , RGD:10402113
NCBI chr 5:147,498,414...147,663,419
Ensembl chr 5:147,498,414...147,662,821
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Gli1
GLI-Kruppel family member GLI1
treatment
ISO
RGD
PMID:21063852
RGD:12859045
NCBI chr10:127,165,751...127,177,448
Ensembl chr10:127,165,751...127,177,843
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H2-M2
histocompatibility 2, M region locus 2
susceptibility
ISO
associated with Macular Degeneration; DNA:polymorphisms:cds:HLA-B27 (human)
RGD
PMID:19728932
RGD:7365097
NCBI chr17:37,791,742...37,794,445
Ensembl chr17:37,791,742...37,794,443
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H2-Q4
histocompatibility 2, Q region locus 4
susceptibility
ISO
associated with Macular Degeneration; DNA:polymorphisms:cds:HLA-B27 (human)
RGD
PMID:19728932
RGD:7365097
NCBI chr17:35,598,593...35,603,650
Ensembl chr17:35,598,593...35,604,266
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Hc
hemolytic complement
IMP
RGD
PMID:16849499
RGD:7411733
NCBI chr 2:34,873,341...34,958,518
Ensembl chr 2:34,873,343...34,951,450
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Hgf
hepatocyte growth factor
ISO
protein:increased expression:choroidal tissue:
RGD
PMID:19013152
RGD:8548599
NCBI chr 5:16,758,493...16,827,448
Ensembl chr 5:16,758,493...16,825,150
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Hif1a
hypoxia inducible factor 1, alpha subunit
treatment
ISO
RGD
PMID:21063852
RGD:12859045
NCBI chr12:73,948,186...73,994,304
Ensembl chr12:73,948,149...73,994,304
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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 7:130,537,933...130,587,388
Ensembl chr 7:130,537,841...130,587,390
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Icam1
intercellular adhesion molecule 1
ISO
mRNA:increased expression:retina, choroid, sclera (rat)
RGD
PMID:20497436
RGD:4145405
NCBI chr 9:20,927,236...20,940,110
Ensembl chr 9:20,927,281...20,940,113
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Igf1r
insulin-like growth factor I receptor
treatment
IMP
RGD
PMID:19032681
RGD:10045869
NCBI chr 7:67,601,486...67,883,416
Ensembl chr 7:67,602,575...67,883,416
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Ikbkb
inhibitor of kappaB kinase beta
treatment
IMP
RGD
PMID:24489934
RGD:10045942
NCBI chr 8:23,149,228...23,196,605
Ensembl chr 8:23,149,228...23,196,605
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Il10
interleukin 10
treatment
IMP
RGD
PMID:22802947 PMID:16903779
RGD:7364853 , RGD:7365068
NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711
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Il2
interleukin 2
treatment
ISO
associated with Macular Degeneration;protein:decreased expression:aqueous humor:
RGD
PMID:19262441
RGD:10047086
NCBI chr 3:37,174,862...37,180,103
Ensembl chr 3:37,174,672...37,180,108
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Itgav
integrin alpha V
ISO
RGD
PMID:15287373
RGD:1582458
NCBI chr 2:83,554,796...83,637,261
Ensembl chr 2:83,554,741...83,637,260
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Jam3
junction adhesion molecule 3
treatment
IMP
RGD
PMID:22323465
RGD:7488935
NCBI chr 9:27,008,680...27,066,739
Ensembl chr 9:27,008,680...27,066,717
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Kdr
kinase insert domain protein receptor
treatment
IMP ISO
RGD
PMID:19085383 PMID:15249365 PMID:18436847 PMID:22997228 PMID:12937991
RGD:8549713 , RGD:8549747 , RGD:8549741 , RGD:8549738 , RGD:8549716
NCBI chr 5:76,093,487...76,139,880
Ensembl chr 5:76,093,487...76,139,118
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Lep
leptin
ISO
associated with Metabolic Syndrome X;mRNA:increased expression:retina (rat)
RGD
PMID:25380250
RGD:10053625
NCBI chr 6:29,060,220...29,073,875
Ensembl chr 6:29,060,219...29,073,876
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Loxl1
lysyl oxidase-like 1
IMP
RGD
PMID:18296663
RGD:7394725
NCBI chr 9:58,195,006...58,220,495
Ensembl chr 9:58,195,021...58,220,469
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Mmp13
matrix metallopeptidase 13
IMP ISO
RGD
PMID:20700625 PMID:20700625
RGD:10043118 , RGD:10043118
NCBI chr 9:7,272,514...7,283,333
Ensembl chr 9:7,272,514...7,283,331
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Mmp2
matrix metallopeptidase 2
treatment
IDA ISO
RGD
PMID:21666238 PMID:25314292
RGD:8657062 , RGD:13207327
NCBI chr 8:93,553,920...93,580,049
Ensembl chr 8:93,553,919...93,580,048
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Mmp9
matrix metallopeptidase 9
treatment
IMP ISO
protein:increased expression:plasma
RGD
PMID:12368198 PMID:25314292 PMID:17304258
RGD:8547840 , RGD:13207327 , RGD:8657061
NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770
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Ptch1
patched 1
ISO
mRNA,protein:increased expression:choroid:
RGD
PMID:21063852
RGD:12859045
NCBI chr13:63,656,142...63,721,274
Ensembl chr13:63,656,142...63,721,412
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Serpinf1
serine (or cysteine) peptidase inhibitor, clade F, member 1
treatment
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 More...
RGD:2312356 , RGD:28867245 , RGD:27226711 , RGD:8655557 , RGD:8554883 , RGD:8554866
NCBI chr11:75,300,855...75,313,449
Ensembl chr11:75,300,595...75,313,527
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Sod1
superoxide dismutase 1, soluble
IMP
RGD
PMID:16844785
RGD:1581207
NCBI chr16:90,017,650...90,023,221
Ensembl chr16:90,017,642...90,023,217
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Stat3
signal transducer and activator of transcription 3
treatment
IDA
associated with Diabetes Mellitus, Experimental
RGD
PMID:17525280 PMID:23094067
RGD:8694307 , RGD:10403057
NCBI chr11:100,777,632...100,830,447
Ensembl chr11:100,775,924...100,830,366
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Tlr2
toll-like receptor 2
IMP
associated with Chlamydophila Infections;
RGD
PMID:20393111
RGD:8552825
NCBI chr 3:83,743,579...83,749,045
Ensembl chr 3:83,743,579...83,749,074
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Tymp
thymidine phosphorylase
ISO
RGD
PMID:12556409
RGD:2293727
NCBI chr15:89,255,834...89,261,282
Ensembl chr15:89,256,134...89,261,242
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Tyr
tyrosinase
ISO
ClinVar Annotator: match by term: Choroidal neovascularization
ClinVar
PMID:666627 PMID:1429711 PMID:1820207 PMID:7704033 PMID:7955413 PMID:9158138 PMID:10766867 PMID:17952075 PMID:18326704 PMID:18488027 PMID:18488028 PMID:18925668 PMID:19208379 PMID:19533789 PMID:20301345 PMID:21541274 PMID:23504663 PMID:25216246 PMID:25741868 PMID:28378818 PMID:28492532 PMID:28976636 PMID:30472657 PMID:31077556 PMID:35803923 More...
NCBI chr 7:87,073,979...87,142,637
Ensembl chr 7:87,073,979...87,142,720
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Vegfa
vascular endothelial growth factor A
treatment
ISO IMP
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 chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295
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Vegfb
vascular endothelial growth factor B
IMP
RGD
PMID:19369214
RGD:2314323
NCBI chr19:6,959,840...6,965,019
Ensembl chr19:6,959,841...6,965,019
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Dll4
delta like canonical Notch ligand 4
treatment
ISO
RGD
PMID:21526177
RGD:155663484
NCBI chr 2:119,156,286...119,166,145
Ensembl chr 2:119,156,265...119,166,443
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Serpine1
serine (or cysteine) peptidase inhibitor, clade E, member 1
treatment severity
IEP ISO IMP
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 chr 5:137,090,358...137,101,126
Ensembl chr 5:137,090,358...137,101,122
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Smo
smoothened, frizzled class receptor
treatment
ISO
RGD
PMID:21063852
RGD:12859045
NCBI chr 6:29,735,480...29,761,359
Ensembl chr 6:29,735,502...29,761,364
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Agt
angiotensinogen
IEP
mRNA, protein:increased expression:cornea
RGD
PMID:18829859
RGD:8548897
NCBI chr 8:125,283,326...125,296,445
Ensembl chr 8:125,283,273...125,296,445
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Agtr1a
angiotensin II receptor, type 1a
IMP
RGD
PMID:18829859
RGD:8548897
NCBI chr13:30,520,339...30,566,850
Ensembl chr13:30,520,424...30,566,850
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Ccr2
C-C motif chemokine receptor 2
IMP
RGD
PMID:12827053 PMID:19421039
RGD:8657360 , RGD:9491750
NCBI chr 9:123,901,954...123,913,594
Ensembl chr 9:123,901,987...123,913,594
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Ccr3
C-C motif chemokine receptor 3
IEP
mRNA:increased expression:cornea
RGD
PMID:20610836
RGD:6892921
NCBI chr 9:123,817,799...123,831,729
Ensembl chr 9:123,822,009...123,831,726
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Ccr5
C-C motif chemokine receptor 5
IMP
RGD
PMID:12556387
RGD:734790
NCBI chr 9:123,921,557...123,934,153
Ensembl chr 9:123,921,580...123,947,736
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Cd36
CD36 molecule
IMP
RGD
PMID:17003426
RGD:6893528
NCBI chr 5:17,986,680...18,093,828
Ensembl chr 5:17,986,688...18,093,799
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Cx3cr1
C-X3-C motif chemokine receptor 1
IMP
RGD
PMID:18322241
RGD:9365153
NCBI chr 9:119,877,749...119,897,362
Ensembl chr 9:119,877,749...119,898,945
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Fas
Fas cell surface death receptor
treatment
IMP
RGD
PMID:12506060
RGD:8662416
NCBI chr19:34,267,926...34,305,175
Ensembl chr19:34,268,066...34,305,172
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Fgf2
fibroblast growth factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:9301478 PMID:11437330
RGD:8655668
NCBI chr 3:37,402,616...37,464,255
Ensembl chr 3:37,402,495...37,464,257
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Flt1
FMS-like tyrosine kinase 1
treatment
ISO
RGD
PMID:19647313
RGD:10402147
NCBI chr 5:147,498,414...147,663,419
Ensembl chr 5:147,498,414...147,662,821
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Il17a
interleukin 17A
treatment
IMP
associated with Herpes Simplex
RGD
PMID:22379030
RGD:9068451
NCBI chr 1:20,801,129...20,804,720
Ensembl chr 1:20,801,129...20,804,720
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Il1rn
interleukin 1 receptor antagonist
treatment
ISO IMP
human protein in mouse model
RGD
PMID:10359324 PMID:12202509
RGD:8549790 , RGD:8549796
NCBI chr 2:24,226,872...24,241,503
Ensembl chr 2:24,226,865...24,241,506
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Itgav
integrin alpha V
ISO
RGD
PMID:10664059
RGD:1582461
NCBI chr 2:83,554,796...83,637,261
Ensembl chr 2:83,554,741...83,637,260
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Kdr
kinase insert domain protein receptor
treatment
IMP IDA
RGD
PMID:21691137 PMID:18263815
RGD:8549714 , RGD:8549755
NCBI chr 5:76,093,487...76,139,880
Ensembl chr 5:76,093,487...76,139,118
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Muc4
mucin 4
ISO
RGD
PMID:17169838
RGD:7349391
NCBI chr16:32,555,089...32,602,786
Ensembl chr16:32,555,015...32,602,754
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Pecam1
platelet/endothelial cell adhesion molecule 1
IDA
RGD
PMID:21719569 PMID:22553751
RGD:6771213 , RGD:6771229
NCBI chr11:106,545,039...106,606,107
Ensembl chr11:106,545,043...106,641,454
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Pparg
peroxisome proliferator activated receptor gamma
treatment
IMP
RGD
PMID:17625041
RGD:8552895
NCBI chr 6:115,337,828...115,467,365
Ensembl chr 6:115,337,912...115,467,360
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Serpinf1
serine (or cysteine) peptidase inhibitor, clade F, member 1
treatment
ISO
human gene in a rat model
RGD
PMID:19596319
RGD:8554890
NCBI chr11:75,300,855...75,313,449
Ensembl chr11:75,300,595...75,313,527
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Tnfaip6
tumor necrosis factor alpha induced protein 6
treatment
ISO
RGD
PMID:20837529
RGD:7777186
NCBI chr 2:51,928,125...51,946,693
Ensembl chr 2:51,928,021...51,946,698
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Vegfa
vascular endothelial growth factor A
IMP ISO IEP
CTD Direct Evidence: marker/mechanism associated with Herpes Simplex;protein:increased expression:cornea:
CTD RGD
PMID:9301478 PMID:22467572 PMID:21325621
RGD:7483619 , RGD:8547993
NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295
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H2-M2
histocompatibility 2, M region locus 2
ISO
DNA:polymorphisms, haplotypes:cds:HLA-B12, HLA-B44 (human)
RGD
PMID:9756436
RGD:7365108
NCBI chr17:37,791,742...37,794,445
Ensembl chr17:37,791,742...37,794,443
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H2-Q4
histocompatibility 2, Q region locus 4
ISO
DNA:polymorphisms, haplotypes:cds:HLA-B12, HLA-B44 (human)
RGD
PMID:9756436
RGD:7365108
NCBI chr17:35,598,593...35,603,650
Ensembl chr17:35,598,593...35,604,266
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Il10
interleukin 10
ISO
DNA:SNP, haplotype:promoter
RGD
PMID:20720222
RGD:7364860
NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711
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Il1b
interleukin 1 beta
ISO
RGD
PMID:19585364
RGD:7401211
NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059
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Il6
interleukin 6
susceptibility
ISO
protein:increased expression:serum: DNA:polymorphism:promoter:-174G>C(human)
RGD
PMID:22025890 PMID:22025890
RGD:7829790 , RGD:7829790
NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979
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Tnf
tumor necrosis factor
disease_progression severity
ISO
DNA:SNP, haplotype:promoter protein:increased expression:serum: protein:increased expression:vitreous fluid:
RGD
PMID:20720222 PMID:19585364 PMID:21849807 PMID:21394064 PMID:21139707
RGD:7364860 , RGD:7401211 , RGD:7394772 , RGD:7387275 , RGD:7387277
NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
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Pecam1
platelet/endothelial cell adhesion molecule 1
treatment
IDA
RGD
PMID:20538980
RGD:11541082
NCBI chr11:106,545,039...106,606,107
Ensembl chr11:106,545,043...106,641,454
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C2
complement C2
susceptibility
ISO
DNA:SNP:intron:c.1360+62G>T (rs547154) (human)
RGD
PMID:22232432
RGD:7411694
NCBI chr17:35,081,578...35,101,076
Ensembl chr17:35,081,580...35,117,241
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Cfb
complement factor B
susceptibility
ISO
DNA:snp:intron:c.1169-69T>C (rs541862) (human)
RGD
PMID:22232432
RGD:7411694
NCBI chr17:35,075,350...35,081,492
Ensembl chr17:35,075,350...35,081,494
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Cfh
complement component 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 chr 1:140,013,593...140,111,149
Ensembl chr 1:140,012,446...140,111,502
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Crp
C-reactive protein, pentraxin-related
ISO
RGD
PMID:17400294
RGD:9491775
NCBI chr 1:172,525,623...172,527,533
Ensembl chr 1:172,525,622...172,660,598
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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 chr 5:134,731,449...134,776,300
Ensembl chr 5:134,731,447...134,776,177
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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 7:130,537,933...130,587,388
Ensembl chr 7:130,537,841...130,587,390
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Mmp2
matrix metallopeptidase 2
ISO
protein:increased expression:serum
RGD
PMID:23559867
RGD:8547885
NCBI chr 8:93,553,920...93,580,049
Ensembl chr 8:93,553,919...93,580,048
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Mmp9
matrix metallopeptidase 9
ISO
protein:increased expression:serum
RGD
PMID:23559867
RGD:8547885
NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770
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Vegfa
vascular endothelial growth factor A
susceptibility
ISO
DNA:SNP,haplotype: :rs833069(human)
RGD
PMID:22307775
RGD:7483605
NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295
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Ctcf
CCCTC-binding factor
IMP
RGD
PMID:21896759
RGD:151356745
NCBI chr 8:106,351,135...106,409,554
Ensembl chr 8:106,363,200...106,409,554
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Cth
cystathionine gamma lyase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27273718
NCBI chr 3:157,599,885...157,630,718
Ensembl chr 3:157,599,885...157,630,714
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Epha2
Eph receptor A2
IDA
RGD
PMID:16359662
RGD:1580975
NCBI chr 4:141,028,532...141,056,695
Ensembl chr 4:141,028,551...141,056,695
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Hgf
hepatocyte growth factor
IEP
mRNA:increased expression:retina:
RGD
PMID:17389513
RGD:8548541
NCBI chr 5:16,758,493...16,827,448
Ensembl chr 5:16,758,493...16,825,150
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Hif1a
hypoxia inducible factor 1, alpha subunit
treatment
IDA
RGD
PMID:21414312
RGD:8695956
NCBI chr12:73,948,186...73,994,304
Ensembl chr12:73,948,149...73,994,304
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Il18
interleukin 18
ISO IMP
mRNA, protein:increased expression:retina
RGD
PMID:17562991 PMID:17234681
RGD:8655891 , RGD:8655930
NCBI chr 9:50,466,000...50,493,141
Ensembl chr 9:50,466,127...50,493,140
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Itgav
integrin alpha V
IEP
RGD
PMID:12063036
RGD:1582452
NCBI chr 2:83,554,796...83,637,261
Ensembl chr 2:83,554,741...83,637,260
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Jam3
junction adhesion molecule 3
IMP
RGD
PMID:15994945
RGD:7488936
NCBI chr 9:27,008,680...27,066,739
Ensembl chr 9:27,008,680...27,066,717
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Lrp1
low density lipoprotein receptor-related protein 1
ISO
protein:increased expression:retina, muller cell
RGD
PMID:16979164
RGD:1625022
NCBI chr10:127,374,026...127,457,158
Ensembl chr10:127,374,030...127,457,017
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Mtor
mechanistic target of rapamycin kinase
IMP
associated with Oxygen-Induced Retinopathy
RGD
PMID:25366488
RGD:10003164
NCBI chr 4:148,533,039...148,642,142
Ensembl chr 4:148,533,068...148,642,140
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Ndp
Norrie disease (pseudoglioma) (human)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29654250
NCBI chr X:16,751,760...16,778,013
Ensembl chr X:16,751,760...16,778,013
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Nf1
neurofibromin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29847659
NCBI chr11:79,223,541...79,472,435
Ensembl chr11:79,230,519...79,472,438
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Serpinf1
serine (or cysteine) peptidase inhibitor, clade F, member 1
treatment
ISO
associated with Oxygen-Induced Retinopathy; human protein in a mouse model
RGD
PMID:11867604
RGD:8554881
NCBI chr11:75,300,855...75,313,449
Ensembl chr11:75,300,595...75,313,527
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Sod1
superoxide dismutase 1, soluble
IMP
RGD
PMID:19142872
RGD:8655607
NCBI chr16:90,017,650...90,023,221
Ensembl chr16:90,017,642...90,023,217
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Vegfa
vascular endothelial growth factor A
ISO IMP IEP
associated with hypoxia;mRNA,protein:increased expression:retina: associated with hypoxia;mRNA:increased expression:retina:
RGD
PMID:12900522 PMID:23324288 PMID:7846076 PMID:8859080
RGD:1580564 , RGD:8548102 , RGD:8547994 , RGD:7483620
NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295
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Vegfb
vascular endothelial growth factor B
IMP
RGD
PMID:19369214
RGD:2314323
NCBI chr19:6,959,840...6,965,019
Ensembl chr19:6,959,841...6,965,019
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Ddr2
discoidin domain receptor family, member 2
ISO
ClinVar Annotator: match by term: Warburg-cinotti syndrome
OMIM ClinVar
PMID:9536098 PMID:17103436 PMID:17576681 PMID:23637089 PMID:25741868 PMID:28492532 PMID:30449416 More...
NCBI chr 1:169,799,874...169,938,525
Ensembl chr 1:169,799,876...169,938,331
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