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: Ocular Neovascularization
Accession: DOID:9002493
browse the term
Definition: Formation of new blood vessels invading the cornea, the retina, or the choroid.
Synonyms: exact_synonym: neovascularization within the eye
primary_id: RDO:9001268
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Pecam1
platelet and endothelial cell adhesion molecule 1
treatment
ISO
RGD
PMID:20538980
RGD:11541082
NCBI chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116
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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
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Aoc3
amine oxidase, copper containing 3
IMP
RGD
PMID:18436961
RGD:2313908
NCBI chr10:86,272,757...86,280,702
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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 1:185,497,815...185,547,380
Ensembl chr 1:185,497,735...185,547,379
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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
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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
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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
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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
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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 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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 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
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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
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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
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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
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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
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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 1:141,115,036...141,210,207
Ensembl chr 1:141,115,036...141,210,207
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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
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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
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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
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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
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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
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Agt
angiotensinogen
ISO
mRNA, protein:increased expression:cornea
RGD
PMID:18829859
RGD:8548897
NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
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Agtr1a
angiotensin II receptor, type 1a
ISO
RGD
PMID:18829859
RGD:8548897
NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946
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Ccr2
C-C motif chemokine receptor 2
ISO
RGD
PMID:12827053 PMID:19421039
RGD:8657360 , RGD:9491750
NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
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Ccr3
C-C motif chemokine receptor 3
ISO
mRNA:increased expression:cornea
RGD
PMID:20610836
RGD:6892921
NCBI chr 8:123,586,100...123,634,178
Ensembl chr 8:123,616,236...123,634,990
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Ccr5
C-C motif chemokine receptor 5
ISO
RGD
PMID:12556387
RGD:734790
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
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Cd36
CD36 molecule
ISO
RGD
PMID:17003426
RGD:6893528
NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903
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Cx3cr1
C-X3-C motif chemokine receptor 1
ISO
RGD
PMID:18322241
RGD:9365153
NCBI chr 8:119,785,726...119,799,431
Ensembl chr 8:119,782,595...119,800,014
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Fas
Fas cell surface death receptor
treatment
ISO
RGD
PMID:12506060
RGD:8662416
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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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 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221
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Flt1
Fms related receptor tyrosine kinase 1
treatment
IMP
RGD
PMID:19647313
RGD:10402147
NCBI chr12:7,296,899...7,468,626
Ensembl chr12:7,297,292...7,468,626
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Il17a
interleukin 17A
treatment
ISO
associated with Herpes Simplex
RGD
PMID:22379030
RGD:9068451
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
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Il1rn
interleukin 1 receptor antagonist
treatment
ISO
human protein in mouse model
RGD
PMID:10359324 PMID:12202509
RGD:8549790 , RGD:8549796
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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Itgav
integrin subunit alpha V
IDA
RGD
PMID:10664059
RGD:1582461
NCBI chr 3:68,838,514...68,926,653
Ensembl chr 3:68,838,189...68,926,639
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Kdr
kinase insert domain receptor
treatment
ISO
RGD
PMID:21691137 PMID:18263815
RGD:8549714 , RGD:8549755
NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
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Muc4
mucin 4, cell surface associated
IEP
RGD
PMID:17169838
RGD:7349391
NCBI chr11:68,008,245...68,053,242
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Pecam1
platelet and endothelial cell adhesion molecule 1
ISO
RGD
PMID:21719569 PMID:22553751
RGD:6771213 , RGD:6771229
NCBI chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116
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Pparg
peroxisome proliferator-activated receptor gamma
treatment
ISO
RGD
PMID:17625041
RGD:8552895
NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468
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Serpinf1
serpin family F member 1
treatment
ISO
human gene in a rat model
RGD
PMID:19596319
RGD:8554890
NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646
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Tnfaip6
TNF alpha induced protein 6
treatment
ISO
RGD
PMID:20837529
RGD:7777186
NCBI chr 3:36,502,250...36,521,652
Ensembl chr 3:36,502,188...36,521,649
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Vegfa
vascular endothelial growth factor A
ISO
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 chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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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
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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 chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505
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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
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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
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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 chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928
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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 1:185,497,815...185,547,380
Ensembl chr 1:185,497,735...185,547,379
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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
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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
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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
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Ctcf
CCCTC-binding factor
ISO
RGD
PMID:21896759
RGD:151356745
NCBI chr19:33,521,726...33,571,124
Ensembl chr19:33,529,319...33,571,123
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Cth
cystathionine gamma-lyase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27273718
NCBI chr 2:246,975,888...247,002,234
Ensembl chr 2:246,975,894...247,002,234
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Epha2
Eph receptor A2
IDA
RGD
PMID:16359662
RGD:1580975
NCBI chr 5:153,605,644...153,634,115
Ensembl chr 5:153,605,644...153,634,117
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Hgf
hepatocyte growth factor
ISO
mRNA:increased expression:retina:
RGD
PMID:17389513
RGD:8548541
NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409
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Hif1a
hypoxia inducible factor 1 subunit alpha
treatment
ISO
RGD
PMID:21414312
RGD:8695956
NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261
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Il18
interleukin 18
ISO
mRNA, protein:increased expression:retina
RGD
PMID:17562991 PMID:17234681
RGD:8655891 , RGD:8655930
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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Itgav
integrin subunit alpha V
ISO
RGD
PMID:12063036
RGD:1582452
NCBI chr 3:68,838,514...68,926,653
Ensembl chr 3:68,838,189...68,926,639
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Jam3
junctional adhesion molecule 3
ISO
RGD
PMID:15994945
RGD:7488936
NCBI chr 8:25,508,461...25,569,306
Ensembl chr 8:25,507,057...25,569,355
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Lrp1
LDL receptor related protein 1
IEP
protein:increased expression:retina, muller cell
RGD
PMID:16979164
RGD:1625022
NCBI chr 7:63,380,325...63,461,029
Ensembl chr 7:63,380,356...63,460,910
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Mtor
mechanistic target of rapamycin kinase
ISO
associated with Oxygen-Induced Retinopathy
RGD
PMID:25366488
RGD:10003164
NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311
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Ndp
norrin cystine knot growth factor NDP
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29654250
NCBI chr X:5,796,487...5,820,934
Ensembl chr X:5,796,487...5,820,934
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Nf1
neurofibromin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29847659
NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658
G
Serpinf1
serpin family F member 1
treatment
ISO
associated with Oxygen-Induced Retinopathy; human protein in a mouse model
RGD
PMID:11867604
RGD:8554881
NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646
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Sod1
superoxide dismutase 1
ISO
RGD
PMID:19142872
RGD:8655607
NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
G
Vegfa
vascular endothelial growth factor A
IDA ISO 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 chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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
G
Ddr2
discoidin domain receptor tyrosine kinase 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 chr13:82,193,623...82,318,229
Ensembl chr13:82,195,463...82,317,363
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all