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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:choroid disease
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Accession:DOID:1417 term browser browse the term
Definition:Disorders of the choroid including hereditary choroidal diseases, neoplasms, and other abnormalities of the vascular layer of the uvea.
Synonyms:exact_synonym: Choroidal Disease;   Choroidal Diseases;   choroid diseases
 narrow_synonym: CHOROIDAL DYSTROPHY;   Collie eye anomaly;   choroidal hypoplasia
 primary_id: MESH:D015862;   RDO:0000438
 alt_id: OMIA:000218
 xref: ICD10CM:H31.9;   ICD9CM:363.9;   NCI:C34468
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
choroid disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il10 interleukin 10 ISO DNA:SNP:promoter:rs6703630 (human) RGD PMID:21357402 RGD:7364844 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Prph2 peripherin 2 ISO ClinVar Annotator: match by term: Choroidal Dystrophy ClinVar PMID:25741868 NCBI chr 9:16,085,933...16,386,176 JBrowse link
autosomal dominant vitreoretinochoroidopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Best1 bestrophin 1 ISO ClinVar Annotator: match by term: Vitreoretinochoroidopathy
ClinVar Annotator: match by OMIM:193220
ClinVar Annotator: match by synonym: Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma
OMIM
ClinVar
PMID:10453731 PMID:10798642 PMID:10854112 PMID:11585313 PMID:11713080 PMID:12543751 PMID:13534955 PMID:14615048 PMID:15452077 PMID:16754206 PMID:17110374 PMID:17898294 PMID:18179881 PMID:18611979 PMID:21192766 PMID:21273940 PMID:21330666 PMID:21809908 PMID:21825197 PMID:22162627 PMID:22183385 PMID:22422030 PMID:23290749 PMID:24033266 PMID:25741868 PMID:26200502 PMID:26333019 PMID:27519691 PMID:28492532 PMID:28687848 PMID:30718709 NCBI chr 1:226,033,146...226,049,893
Ensembl chr 1:226,030,875...226,049,929
JBrowse link
G Fth1 ferritin heavy chain 1 ISO ClinVar Annotator: match by term: Vitreoretinochoroidopathy ClinVar PMID:10453731 PMID:11713080 PMID:14615048 PMID:17898294 PMID:25741868 PMID:28492532 PMID:28687848 NCBI chr 1:226,030,940...226,033,228
Ensembl chr 1:226,030,938...226,033,228
JBrowse link
birdshot chorioretinopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il2 interleukin 2 ISO protein:increased expression:aqueous humor RGD PMID:21570674 RGD:5147908 NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
JBrowse link
G RT1-CE13 RT1 class I, locus CE13 ISO DNA:polymorphisms:cds:HLA-B12 (human) RGD PMID:3341436 RGD:7365121
chorioretinitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col2a1 collagen type II alpha 1 chain ISO associated with Toxoplasmosis, Congenital;DNA:snp:intron:IVS2-218 (rs1793958) (human) RGD PMID:18523590 RGD:8657355 NCBI chr 7:139,454,945...139,484,403
Ensembl chr 7:139,455,242...139,483,997
JBrowse link
Choroidal Dystrophy, Central Areolar 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prph2 peripherin 2 ISO ClinVar Annotator: match by term: MACULAR DYSTROPHY, PROGRESSIVE
ClinVar Annotator: match by term: Choroidal dystrophy, central areolar 2
ClinVar Annotator: match by OMIM:613105
OMIM
ClinVar
PMID:7493155 PMID:8015786 PMID:8302543 PMID:8485576 PMID:8644804 PMID:8675410 PMID:8747448 PMID:8994365 PMID:9010868 PMID:9443872 PMID:14510799 PMID:14557183 PMID:18310263 PMID:19038374 PMID:19243827 PMID:24463884 PMID:24629188 PMID:25474345 PMID:25741868 PMID:26161267 PMID:28076437 PMID:28492532 PMID:28559085 PMID:30718709 NCBI chr 9:16,085,933...16,386,176 JBrowse link
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 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
choroidal sclerosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gucy2d guanylate cyclase 2D, retinal ISO ClinVar Annotator: match by term: Choroidal sclerosis
ClinVar Annotator: match by term: Choroidal dystrophy, central areolar 1
ClinVar
OMIM
PMID:8554074 PMID:8733141 PMID:9618177 PMID:10766140 PMID:10951519 PMID:11115851 PMID:12552567 PMID:15175914 PMID:16505055 PMID:17724218 PMID:17964524 PMID:20050595 PMID:22695961 PMID:23035049 PMID:25477517 PMID:25741868 PMID:26253563 PMID:26298565 PMID:26626312 PMID:28492532 PMID:29061346 PMID:29559409 PMID:30718709 NCBI chr10:55,835,695...55,851,235
Ensembl chr10:55,835,695...55,851,235
JBrowse link
G Prph2 peripherin 2 ISO DNA:polymorphism:cds:p.R142W(human)
ClinVar Annotator: match by term: Choroidal dystrophy central areolar
DNA:missense mutation:cds:p.R195L(human)
ClinVar PMID:25741868, PMID:8644804, PMID:16832026 RGD:8553207, RGD:8554858 NCBI chr 9:16,085,933...16,386,176 JBrowse link
G Ttll5 tubulin tyrosine ligase like 5 ISO ClinVar Annotator: match by term: Choroidal dystrophy central areolar ClinVar PMID:25741868 NCBI chr 6:109,693,915...109,910,479
Ensembl chr 6:109,710,781...109,879,607
JBrowse link
Choroideremia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chm CHM Rab escort protein ISO ClinVar Annotator: match by term: Choroideremia
ClinVar Annotator: match by OMIM:303100
ClinVar Annotator: match by null
ClinVar Annotator: match by term: Choroideremia, salla type
OMIM
ClinVar
PMID:1044764 PMID:1302003 PMID:1598901 PMID:7981670 PMID:8477262 PMID:9067750 PMID:9175730 PMID:10447648 PMID:11139690 PMID:12203991 PMID:12827496 PMID:16087855 PMID:16936131 PMID:21905166 PMID:22957832 PMID:25741868 PMID:25912515 PMID:26133251 PMID:27247961 PMID:28098911 PMID:28492532 PMID:28559085 NCBI chr  X:84,666,900...84,821,775
Ensembl chr  X:84,666,900...84,821,775
JBrowse link
G Prph2 peripherin 2 ISO ClinVar Annotator: match by term: Progressive tapetochoroidal dystrophy ClinVar PMID:11139241 PMID:25675413 PMID:25741868 PMID:26842753 PMID:28492532 NCBI chr 9:16,085,933...16,386,176 JBrowse link
choroiditis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ifng interferon gamma ISO RGD PMID:10227812 RGD:8157614 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
JBrowse link
gyrate atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Oat ornithine aminotransferase ISO ClinVar Annotator: match by term: Ornithine aminotransferase deficiency
ClinVar Annotator: match by term: Gyrate atrophy of choroid and retina with pyridoxine-responsive ornithinemia
ClinVar Annotator: match by OMIM:258870
ClinVar
OMIM
PMID:1301936 PMID:1427882 PMID:1487247 PMID:1609808 PMID:1612597 PMID:1618792 PMID:1737786 PMID:1992472 PMID:2220818 PMID:2276738 PMID:2565038 PMID:2793865 PMID:2916581 PMID:3170546 PMID:3339136 PMID:3375240 PMID:3417397 PMID:7668253 PMID:7887415 PMID:8281144 PMID:8430317 PMID:8670789 PMID:10617919 PMID:15750329 PMID:22182799 PMID:22674428 PMID:23076989 PMID:24082780 PMID:24429551 PMID:25741868 PMID:27978498 PMID:28181551 PMID:28388263 PMID:28492532, PMID:3339136 RGD:1600292 NCBI chr 1:204,562,289...204,582,070
Ensembl chr 1:204,562,289...204,582,070
JBrowse link
G Rims1 regulating synaptic membrane exocytosis 1 ISO ClinVar Annotator: match by term: Gyrate atrophy ClinVar PMID:25741868 NCBI chr 9:28,440,408...28,973,246
Ensembl chr 9:28,442,229...28,973,246
JBrowse link
microcephaly and chorioretinopathy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plk4 polo-like kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:127,686,911...127,705,518
Ensembl chr 2:127,686,925...127,705,518
JBrowse link
G Tubgcp4 tubulin, gamma complex associated protein 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:113,131,292...113,160,750
Ensembl chr 3:113,131,327...113,158,720
JBrowse link
G Tubgcp6 tubulin, gamma complex associated protein 6 ISO ClinVar Annotator: match by term: Microcephaly with chorioretinopathy, autosomal recessive
ClinVar Annotator: match by term: Microcephaly and chorioretinopathy with or without mental retardation
ClinVar
OMIM
PMID:5936364 PMID:22279524 PMID:25344692 PMID:25741868 PMID:28492532 NCBI chr 7:130,080,895...130,102,247
Ensembl chr 7:130,080,895...130,101,858
JBrowse link
microcephaly and chorioretinopathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plk4 polo-like kinase 4 ISO ClinVar Annotator: match by term: Microcephaly and chorioretinopathy, autosomal recessive, 2 OMIM
ClinVar
NCBI chr 2:127,686,911...127,705,518
Ensembl chr 2:127,686,925...127,705,518
JBrowse link
microcephaly and chorioretinopathy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tp53bp1 tumor protein p53 binding protein 1 ISO ClinVar Annotator: match by term: Microcephaly and chorioretinopathy, autosomal recessive, 3 ClinVar PMID:24033266 PMID:25741868 PMID:25817018 PMID:28492532 NCBI chr 3:113,160,030...113,259,701
Ensembl chr 3:113,160,000...113,231,790
JBrowse link
G Tubgcp4 tubulin, gamma complex associated protein 4 ISO ClinVar Annotator: match by OMIM:616335
ClinVar Annotator: match by term: Microcephaly and chorioretinopathy, autosomal recessive, 3
ClinVar
OMIM
PMID:24033266 PMID:25741868 PMID:25817018 PMID:28492532 NCBI chr 3:113,131,292...113,160,750
Ensembl chr 3:113,131,327...113,158,720
JBrowse link
Multifocal Choroiditis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfb complement factor B no_association ISO DNA:missense mutations:cds:p.L9H, p.R32Q (rs4151667, rs641153) (human) RGD PMID:19001225 RGD:7411728 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 ISO DNA:SNPs, missense mutation:introns, cds:multiple RGD PMID:19001225 RGD:7411728 NCBI chr13:56,979,155...57,080,540
Ensembl chr13:56,978,607...57,080,622
JBrowse link
partial central choroid dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prph2 peripherin 2 ISS OMIM:613105 MouseDO NCBI chr 9:16,085,933...16,386,176 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
Toxoplasma Chorioretinitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il10 interleukin 10 ISO DNA:SNP:promoter:−1082G>A (human) RGD PMID:18436829 RGD:7365046 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Il6 interleukin 6 susceptibility ISO DNA:polymorphism:promoter:-174G>C(human) RGD PMID:23336844 RGD:7829805 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16122
    sensory system disease 5248
      eye disease 2673
        uveal disease 227
          choroid disease 56
            Choroid Hemorrhage 0
            Choroid Neoplasms + 0
            Choroidal Effusions + 0
            Choroidal Neovascularization + 41
            Choroideremia + 2
            Microcephaly and Chorioretinopathy + 4
            Noble Bass Sherman Syndrome 0
            Presumed Ocular Histoplasmosis Syndrome 0
            autosomal dominant vitreoretinochoroidopathy 2
            choroidal sclerosis + 3
            choroiditis + 8
            gyrate atrophy + 2
Path 2
Term Annotations click to browse term
  disease 16122
    disease of anatomical entity 15369
      nervous system disease 10977
        sensory system disease 5248
          eye disease 2673
            uveal disease 227
              choroid disease 56
                Choroid Hemorrhage 0
                Choroid Neoplasms + 0
                Choroidal Effusions + 0
                Choroidal Neovascularization + 41
                Choroideremia + 2
                Microcephaly and Chorioretinopathy + 4
                Noble Bass Sherman Syndrome 0
                Presumed Ocular Histoplasmosis Syndrome 0
                autosomal dominant vitreoretinochoroidopathy 2
                choroidal sclerosis + 3
                choroiditis + 8
                gyrate atrophy + 2
paths to the root