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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:An uveal disease that is located_in the choroid. (DO)
Synonyms:exact_synonym: Choroidal Disease;   Choroidal Diseases;   choroid diseases
 narrow_synonym: Collie eye anomaly;   choroidal dystrophy;   choroidal hypoplasia
 primary_id: MESH:D015862
 alt_id: OMIA:000218
 xref: ICD10CM:H31.9;   ICD9CM:363.9;   NCI:C34468
For additional species annotation, visit the Alliance of Genome Resources.

GViewer not supported for the selected species.

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 chr25:22,590,389...22,595,877
Ensembl chr25:22,590,962...22,594,836 		JBrowse link
G NHEJ1 non-homologous end joining factor 1 ISO Choroidal hypoplasia, NHEJ1-related OMIA PMID:120471 PMID:480920 PMID:4631461 PMID:4959239 PMID:4980211 More... NCBI chr10:104,981,313...105,071,828
Ensembl chr10:104,982,380...105,068,999 		JBrowse link
G PRPH2 peripherin 2 ISO ClinVar Annotator: match by term: Choroidal Dystrophy ClinVar PMID:25741868 PMID:28492532 PMID:32531846 NCBI chr17:29,429,876...29,456,013
Ensembl chr17:29,430,545...29,453,636 		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: Autosomal dominant vitreoretinochoroidopathy | ClinVar Annotator: match by term: Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 2 | ClinVar Annotator: match by term: VITREORETINOCHOROIDOPATHY, AUTOSOMAL DOMINANT, WITH NANOPHTHALMOS | ClinVar Annotator: match by term: VRCP autosomal dominant OMIM
ClinVar		 PMID:2133066 PMID:9536098 PMID:10737974 PMID:10788642 PMID:10798642 More... NCBI chr 1:11,841,052...11,857,694
Ensembl chr 1:11,837,837...11,857,233 		JBrowse link
G FTH1 ferritin heavy chain 1 ISO ClinVar Annotator: match by term: Autosomal dominant vitreoretinochoroidopathy | ClinVar Annotator: match by term: VITREORETINOCHOROIDOPATHY, AUTOSOMAL DOMINANT, WITH NANOPHTHALMOS | ClinVar Annotator: match by term: VRCP autosomal dominant ClinVar PMID:2133066 PMID:10788642 PMID:10798642 PMID:14615048 PMID:18985398 More... NCBI chr 1:11,837,533...11,840,926 JBrowse link
birdshot chorioretinopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ERAP2 endoplasmic reticulum aminopeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36013011 NCBI chr 4:90,707,064...90,754,413
Ensembl chr 4:90,707,181...90,752,325 		JBrowse link
G IL2 interleukin 2 ISO protein:increased expression:aqueous humor RGD PMID:21570674 RGD:5147908 NCBI chr 7:69,729,635...69,736,279
Ensembl chr 7:69,730,282...69,734,969 		JBrowse link
Central Areolar Choroidal Dystrophy 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: Choroidal dystrophy, central areolar 2 | ClinVar Annotator: match by term: MACULAR DYSTROPHY, PROGRESSIVE OMIM
ClinVar		 PMID:279751 PMID:3441139 PMID:7493155 PMID:7825692 PMID:7880786 More... NCBI chr17:29,429,876...29,456,013
Ensembl chr17:29,430,545...29,453,636 		JBrowse link
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 chr11:44,196,213...44,227,718
Ensembl chr11:44,196,094...44,227,468 		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 RGD PMID:16689928 PMID:17466298 PMID:22633972 RGD:2289282 RGD:8694464 RGD:8695931 NCBI chr15:81,128,427...81,142,779
Ensembl chr15:81,129,795...81,147,391 		JBrowse link
G AOC3 amine oxidase copper containing 3 ISO RGD PMID:18436961 RGD:2313908 NCBI chr16:63,435,494...63,442,790
Ensembl chr16:63,437,067...63,442,256 		JBrowse link
G BMP4 bone morphogenetic protein 4 ISO RGD PMID:21411747 PMID:22392094 RGD:8699493 RGD:8699501 NCBI chr24:31,097,673...31,104,774
Ensembl chr24:31,097,538...31,101,225 		JBrowse link
G C5 complement C5 ISO RGD PMID:16849499 RGD:7411733 NCBI chr12:18,525,855...18,624,048
Ensembl chr12:18,525,880...18,623,636 		JBrowse link
G CCL2 C-C motif chemokine ligand 2 treatment ISO RGD PMID:17389519 RGD:8548832 NCBI chr16:27,763,354...27,765,437
Ensembl chr16:27,763,555...27,765,416 		JBrowse link
G CCR2 C-C motif chemokine receptor 2 ISO RGD PMID:22205983 RGD:8657364 NCBI chr22:7,795,192...7,801,242
Ensembl chr22:7,798,646...7,799,728 		JBrowse link
G CCR3 C-C motif chemokine receptor 3 ISO associated with Macular Degeneration RGD PMID:19525930 RGD:6893454 NCBI chr22:7,648,410...7,698,523
Ensembl chr22:7,697,068...7,698,135 		JBrowse link
G CFB complement factor B ISO RGD PMID:16849499 RGD:7411733 Ensembl chr17:40,069,909...40,094,207 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 NCBI chr25:32,557,697...32,744,763 JBrowse link
G DLL4 delta like canonical Notch ligand 4 treatment ISO RGD PMID:21063852 RGD:12859045 NCBI chr26:42,056,473...42,066,283
Ensembl chr26:42,056,331...42,065,828 		JBrowse link
G F7 coagulation factor VII ISO mouse protein in a rat model RGD PMID:19357351 RGD:2312299 NCBI chr 3:91,109,864...91,122,707
Ensembl chr 3:91,110,380...91,123,327 		JBrowse link
G FGF2 fibroblast growth factor 2 treatment ISO RGD PMID:10359334 RGD:8655568 NCBI chr 7:70,089,394...70,157,423 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 chr 3:7,412,506...7,608,122
Ensembl chr 3:7,412,172...7,607,967 		JBrowse link
G GLI1 GLI family zinc finger 1 treatment ISO RGD PMID:21063852 RGD:12859045 NCBI chr11:53,371,929...53,384,339
Ensembl chr11:53,375,558...53,385,269 		JBrowse link
G HGF hepatocyte growth factor ISO protein:increased expression:choroidal tissue: RGD PMID:19013152 RGD:8548599 NCBI chr21:67,118,785...67,193,506
Ensembl chr21:67,120,722...67,193,504 		JBrowse link
G HIF1A hypoxia inducible factor 1 subunit alpha treatment ISO RGD PMID:21063852 RGD:12859045 NCBI chr24:38,873,830...38,927,657
Ensembl chr24:38,873,861...38,928,288 		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 chr 9:115,197,543...115,250,092
Ensembl chr 9:115,197,566...115,253,919 		JBrowse link
G ICAM1 intercellular adhesion molecule 1 ISO mRNA:increased expression:retina, choroid, sclera (rat) RGD PMID:20497436 RGD:4145405 NCBI chr 6:9,320,991...9,338,125
Ensembl chr 6:9,322,550...9,338,263 		JBrowse link
G IGF1R insulin like growth factor 1 receptor treatment ISO RGD PMID:19032681 RGD:10045869 NCBI chr29:17,212,206...17,534,036
Ensembl chr29:17,459,404...17,526,930 		JBrowse link
G IKBKB inhibitor of nuclear factor kappa B kinase subunit beta treatment ISO RGD PMID:24489934 RGD:10045942 NCBI chr 8:40,267,532...40,325,282
Ensembl chr 8:40,268,079...40,326,381 		JBrowse link
G IL10 interleukin 10 treatment ISO RGD PMID:16903779 PMID:22802947 RGD:7364853 RGD:7365068 NCBI chr25:22,590,389...22,595,877
Ensembl chr25:22,590,962...22,594,836 		JBrowse link
G IL2 interleukin 2 treatment ISO associated with Macular Degeneration;protein:decreased expression:aqueous humor: RGD PMID:19262441 RGD:10047086 NCBI chr 7:69,729,635...69,736,279
Ensembl chr 7:69,730,282...69,734,969 		JBrowse link
G ITGAV integrin subunit alpha V ISO RGD PMID:15287373 RGD:1582458 NCBI chr10:72,125,710...72,216,757
Ensembl chr10:72,125,962...72,216,809 		JBrowse link
G JAM3 junctional adhesion molecule 3 treatment ISO RGD PMID:22323465 RGD:7488935 NCBI chr 1:125,136,963...125,211,424 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 7:13,435,059...13,482,236
Ensembl chr 7:13,435,096...13,482,771 		JBrowse link
G LEP leptin ISO associated with Metabolic Syndrome X;mRNA:increased expression:retina (rat) RGD PMID:25380250 RGD:10053625 NCBI chr21:97,056,913...97,071,161
Ensembl chr21:97,057,529...97,071,220 		JBrowse link
G LOC103219825 protein patched homolog 1 ISO mRNA,protein:increased expression:choroid: RGD PMID:21063852 RGD:12859045 NCBI chr12:107,580,895...107,656,443
Ensembl chr12:107,590,663...107,652,985 		JBrowse link
G LOXL1 lysyl oxidase like 1 ISO RGD PMID:18296663 RGD:7394725 NCBI chr26:9,539,383...9,565,082
Ensembl chr26:9,538,758...9,564,751 		JBrowse link
G MMP13 matrix metallopeptidase 13 ISO RGD PMID:20700625 RGD:10043118 NCBI chr 1:94,322,473...94,370,665
Ensembl chr 1:94,322,979...94,334,747 		JBrowse link
G MMP2 matrix metallopeptidase 2 treatment ISO RGD PMID:21666238 PMID:25314292 RGD:13207327 RGD:8657062 NCBI chr 5:41,264,382...41,291,657
Ensembl chr 5:41,264,354...41,291,004 		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 chr 2:17,867,267...17,874,757
Ensembl chr 2:17,867,177...17,874,712 		JBrowse link
G SERPINF1 serpin family F member 1 treatment ISO protein:increased expression:aqueous humor (human)
human gene in a mouse model
human protein in a rat 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 chr16:1,408,453...1,424,197 JBrowse link
G SOD1 superoxide dismutase 1 ISO RGD PMID:16844785 RGD:1581207 NCBI chr 2:60,461,219...60,472,999 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 chr16:63,877,884...63,957,894
Ensembl chr16:63,922,862...63,957,984 		JBrowse link
G TLR2 toll like receptor 2 ISO associated with Chlamydophila Infections; RGD PMID:20393111 RGD:8552825 NCBI chr 7:100,239,533...100,565,955
Ensembl chr 7:100,258,441...100,260,795 		JBrowse link
G TYMP thymidine phosphorylase ISO RGD PMID:12556409 RGD:2293727 NCBI chr19:32,997,337...33,001,558
Ensembl chr19:32,997,304...33,001,215 		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 1:80,330,051...80,444,646 JBrowse link
G VEGFA vascular endothelial growth factor A treatment ISO mRNA,protein:increased expression:choroidal tissue,retina:
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:16680105 PMID:16723717 PMID:19013152 PMID:20237252 RGD:7483614 RGD:8548459 RGD:8548599 NCBI chr17:28,377,959...28,394,508 JBrowse link
G VEGFB vascular endothelial growth factor B ISO RGD PMID:19369214 RGD:2314323 NCBI chr 1:9,997,820...10,001,518
Ensembl chr 1:9,997,665...10,001,429 		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 chr26:42,056,473...42,066,283
Ensembl chr26:42,056,331...42,065,828 		JBrowse link
G SERPINE1 serpin family E member 1 severity
treatment		 ISO mRNA:increased expression:retina (mouse)
human gene in mouse model		 RGD PMID:11292663 PMID:12766088 PMID:26610445 RGD:11073722 RGD:8547735 RGD:8547737 NCBI chr28:12,047,520...12,060,662
Ensembl chr28:12,047,529...12,060,202 		JBrowse link
G SMO smoothened, frizzled class receptor treatment ISO RGD PMID:21063852 RGD:12859045 NCBI chr21:97,788,955...97,814,549
Ensembl chr21:97,788,624...97,814,709 		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 dystrophy, central areolar, 1 OMIM
ClinVar		 PMID:8554074 PMID:8733141 PMID:8944027 PMID:9536098 PMID:9618177 More... NCBI chr16:7,391,260...7,407,549
Ensembl chr16:7,392,419...7,406,305 		JBrowse link
G PRPH2 peripherin 2 ISO ClinVar Annotator: match by term: Central areolar choroidal dystrophy ClinVar PMID:25741868 NCBI chr17:29,429,876...29,456,013
Ensembl chr17:29,430,545...29,453,636 		JBrowse link
G TTLL5 tubulin tyrosine ligase like 5 ISO ClinVar Annotator: match by term: Central areolar choroidal dystrophy ClinVar PMID:25741868 NCBI chr24:52,905,106...53,199,160
Ensembl chr24:52,905,291...53,199,136 		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: CHM-related condition | ClinVar Annotator: match by term: Choroideremia | ClinVar Annotator: match by term: Choroideremia, Salla type OMIM
ClinVar		 PMID:1044764 PMID:1302003 PMID:1598901 PMID:7981670 PMID:7981671 More... NCBI chr  X:74,626,531...74,810,560
Ensembl chr  X:74,626,028...74,810,557 		JBrowse link
G PRPH2 peripherin 2 ISO ClinVar Annotator: match by term: Progressive tapetochoroidal dystrophy ClinVar PMID:9536098 PMID:11139241 PMID:11704030 PMID:16113362 PMID:16799052 More... NCBI chr17:29,429,876...29,456,013
Ensembl chr17:29,430,545...29,453,636 		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 chr11:63,785,493...63,791,071
Ensembl chr11:63,786,041...63,790,473 		JBrowse link
gyrate atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NKX1-2 NK1 homeobox 2 ISO ClinVar Annotator: match by term: Ornithine aminotransferase deficiency ClinVar PMID:1737786 PMID:23076989 PMID:28492532 NCBI chr 9:117,107,266...117,112,632
Ensembl chr 9:117,109,479...117,112,002 		JBrowse link
G OAT ornithine aminotransferase ISO ClinVar Annotator: match by term: Ornithine aminotransferase deficiency OMIM
ClinVar		 PMID:1301936 PMID:1427882 PMID:1487247 PMID:1609808 PMID:1612597 More... NCBI chr 9:117,060,819...117,083,160
Ensembl chr 9:117,060,393...117,083,126 		JBrowse link
G RIMS1 regulating synaptic membrane exocytosis 1 ISO ClinVar Annotator: match by term: Ornithine aminotransferase deficiency ClinVar PMID:16199547 PMID:25741868 PMID:28492532 PMID:32531858 NCBI chr17:2,690,430...3,176,794
Ensembl chr17:2,690,418...3,176,738 		JBrowse link
Microcephaly and Chorioretinopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TUBGCP6 tubulin gamma complex component 6 ISO ClinVar Annotator: match by term: Microcephaly and chorioretinopathy with or without intellectual disability ClinVar PMID:25344692 PMID:25741868 PMID:28492532 NCBI chr19:32,708,760...32,735,000
Ensembl chr19:32,708,807...32,734,373 		JBrowse link
microcephaly and chorioretinopathy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KIF11 kinesin family member 11 ISO ClinVar Annotator: match by term: Microcephaly and chorioretinopathy, autosomal recessive, 1 ClinVar PMID:25741868 NCBI chr 9:85,858,364...85,923,211
Ensembl chr 9:85,858,381...85,923,819 		JBrowse link
G PLK4 polo like kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:75,005,468...75,023,768
Ensembl chr 7:75,006,431...75,023,730 		JBrowse link
G TP53BP1 tumor protein p53 binding protein 1 ISO ClinVar Annotator: match by term: Microcephaly with chorioretinopathy, autosomal recessive ClinVar PMID:24033266 PMID:25741868 PMID:25817018 PMID:28492532 PMID:35418825 NCBI chr26:39,489,925...39,595,096
Ensembl chr26:39,508,600...39,594,927 		JBrowse link
G TUBGCP4 tubulin gamma complex component 4 ISO ClinVar Annotator: match by term: Microcephaly with chorioretinopathy, autosomal recessive ClinVar PMID:24033266 PMID:25741868 PMID:25817018 PMID:28492532 PMID:35418825 NCBI chr26:39,596,788...39,630,859
Ensembl chr26:39,593,342...39,630,536 		JBrowse link
G TUBGCP6 tubulin gamma complex component 6 ISO ClinVar Annotator: match by term: Microcephaly and chorioretinopathy 1 | ClinVar Annotator: match by term: TUBGCP6-related condition OMIM
ClinVar		 PMID:5936364 PMID:9536098 PMID:17576681 PMID:22279524 PMID:25344692 More... NCBI chr19:32,708,760...32,735,000
Ensembl chr19:32,708,807...32,734,373 		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 2 | ClinVar Annotator: match by term: PLK4-related condition OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25320347 PMID:25344692 PMID:25741868 More... NCBI chr 7:75,005,468...75,023,768
Ensembl chr 7:75,006,431...75,023,730 		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 3 | ClinVar Annotator: match by term: TUBGCP4-related condition ClinVar PMID:24033266 PMID:25741868 PMID:25817018 PMID:28492532 PMID:35418825 NCBI chr26:39,489,925...39,595,096
Ensembl chr26:39,508,600...39,594,927 		JBrowse link
G TUBGCP4 tubulin gamma complex component 4 ISO ClinVar Annotator: match by term: Microcephaly and chorioretinopathy 3 | ClinVar Annotator: match by term: TUBGCP4-related condition OMIM
ClinVar		 PMID:16199547 PMID:24033266 PMID:25741868 PMID:25817018 PMID:28492532 More... NCBI chr26:39,596,788...39,630,859
Ensembl chr26:39,593,342...39,630,536 		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 Ensembl chr17:40,069,909...40,094,207 JBrowse link
G CFH complement factor H ISO DNA:SNPs, missense mutation:introns, cds:multiple RGD PMID:19001225 RGD:7411728 NCBI chr25:32,557,697...32,744,763 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 ISO OMIM:613105 MouseDO NCBI chr17:29,429,876...29,456,013
Ensembl chr17:29,430,545...29,453,636 		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 chr17:40,069,852...40,094,478
Ensembl chr17:40,069,909...40,094,207 		JBrowse link
G CFB complement factor B susceptibility ISO DNA:snp:intron:c.1169-69T>C (rs541862) (human) RGD PMID:22232432 RGD:7411694 Ensembl chr17:40,069,909...40,094,207 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 NCBI chr25:32,557,697...32,744,763 JBrowse link
G CRP C-reactive protein ISO RGD PMID:17400294 RGD:9491775 NCBI chr20:4,232,262...4,235,826
Ensembl chr20:4,232,913...4,235,377 		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 chr28:8,999,164...9,048,703 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 9:115,197,543...115,250,092
Ensembl chr 9:115,197,566...115,253,919 		JBrowse link
G MMP2 matrix metallopeptidase 2 ISO protein:increased expression:serum RGD PMID:23559867 RGD:8547885 NCBI chr 5:41,264,382...41,291,657
Ensembl chr 5:41,264,354...41,291,004 		JBrowse link
G MMP9 matrix metallopeptidase 9 ISO protein:increased expression:serum RGD PMID:23559867 RGD:8547885 NCBI chr 2:17,867,267...17,874,757
Ensembl chr 2:17,867,177...17,874,712 		JBrowse link
G VEGFA vascular endothelial growth factor A susceptibility ISO DNA:SNP,haplotype: :rs833069(human) RGD PMID:22307775 RGD:7483605 NCBI chr17:28,377,959...28,394,508 JBrowse link
Toxoplasma Chorioretinitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CXCL8 C-X-C motif chemokine ligand 8 severity ISO protein:increased expression:serum (human) RGD PMID:17488320 RGD:39939053 NCBI chr 7:22,202,497...22,205,730
Ensembl chr 7:22,202,527...22,204,068 		JBrowse link
G IL10 interleukin 10 ISO DNA:SNP:promoter:−1082G>A (human) RGD PMID:18436829 RGD:7365046 NCBI chr25:22,590,389...22,595,877
Ensembl chr25:22,590,962...22,594,836 		JBrowse link
G IL6 interleukin 6 susceptibility ISO DNA:polymorphism:promoter:-174G>C(human) RGD PMID:23336844 RGD:7829805 NCBI chr21:35,577,513...35,582,385
Ensembl chr21:35,577,939...35,582,237 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15416
    sensory system disease 6936
      eye disease 3568
        uveal disease 217
          choroid disease 64
            Choroid Hemorrhage 0
            Choroid Neoplasms + 0
            Choroidal Effusions + 0
            Choroidal Neovascularization + 44
            Choroideremia + 2
            Microcephaly and Chorioretinopathy + 5
            Noble Bass Sherman Syndrome 0
            Presumed Ocular Histoplasmosis Syndrome 0
            autosomal dominant vitreoretinochoroidopathy 2
            choroidal sclerosis + 3
            choroiditis + 9
            gyrate atrophy + 3
Path 2
Term Annotations click to browse term
  disease 15416
    disease of anatomical entity 15079
      nervous system disease 13229
        Neurologic Manifestations 9818
          sensory system disease 6936
            eye disease 3568
              uveal disease 217
                choroid disease 64
                  Choroid Hemorrhage 0
                  Choroid Neoplasms + 0
                  Choroidal Effusions + 0
                  Choroidal Neovascularization + 44
                  Choroideremia + 2
                  Microcephaly and Chorioretinopathy + 5
                  Noble Bass Sherman Syndrome 0
                  Presumed Ocular Histoplasmosis Syndrome 0
                  autosomal dominant vitreoretinochoroidopathy 2
                  choroidal sclerosis + 3
                  choroiditis + 9
                  gyrate atrophy + 3
paths to the root