Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

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
go back to main search page
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.


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 chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711 		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 chr 1:75,006,505...75,101,870
Ensembl chr 1:75,006,298...75,101,844 		JBrowse link
G Prph2 peripherin 2 ISO ClinVar Annotator: match by term: Choroidal Dystrophy ClinVar PMID:25741868 PMID:28492532 PMID:32531846 NCBI chr17:47,221,404...47,235,859
Ensembl chr17:47,221,385...47,235,859 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:2133066 PMID:9536098 PMID:10737974 PMID:10788642 PMID:10798642 More... NCBI chr19:9,962,536...9,978,997
Ensembl chr19:9,962,538...9,978,997 		JBrowse link
G Fth1 ferritin heavy polypeptide 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 chr19:9,957,964...9,962,475
Ensembl chr19:9,957,962...9,962,462 		JBrowse link
birdshot chorioretinopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H2-M2 histocompatibility 2, M region locus 2 ISO DNA:polymorphism:cds:HLA-B12 (human) RGD PMID:3341436 RGD:7365121 NCBI chr17:37,791,742...37,794,445
Ensembl chr17:37,791,742...37,794,443 		JBrowse link
G H2-Q4 histocompatibility 2, Q region locus 4 ISO DNA:polymorphisms:cds:HLA-B12 (human) RGD PMID:3341436 RGD:7365121 NCBI chr17:35,598,593...35,603,650
Ensembl chr17:35,598,593...35,604,266 		JBrowse link
G Il2 interleukin 2 ISO protein:increased expression:aqueous humor RGD PMID:21570674 RGD:5147908 NCBI chr 3:37,174,862...37,180,103
Ensembl chr 3:37,174,672...37,180,108 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:279751 PMID:3441139 PMID:7493155 PMID:7825692 PMID:7880786 More... NCBI chr17:47,221,404...47,235,859
Ensembl chr17:47,221,385...47,235,859 		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 ISO associated with Toxoplasmosis, Congenital;DNA:snp:intron:IVS2-218 (rs1793958) (human) RGD PMID:18523590 RGD:8657355 NCBI chr15:97,873,483...97,902,525
Ensembl chr15:97,873,483...97,902,576 		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 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		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 7:130,537,933...130,587,388
Ensembl chr 7:130,537,841...130,587,390 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		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 7:87,073,979...87,142,637
Ensembl chr 7:87,073,979...87,142,720 		JBrowse link
G 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 		JBrowse link
G 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 		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 chr 2:119,156,286...119,166,145
Ensembl chr 2:119,156,265...119,166,443 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
choroidal sclerosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gucy2e guanylate cyclase 2e ISO ClinVar Annotator: match by term: Choroidal dystrophy, central areolar, 1
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8554074 PMID:8733141 PMID:8944027 PMID:9536098 PMID:9618177 More... NCBI chr11:69,108,943...69,128,083
Ensembl chr11:69,108,943...69,127,862 		JBrowse link
G Prph2 peripherin 2 ISO DNA:polymorphism:cds:p.R142W(human)
ClinVar Annotator: match by term: Central areolar choroidal dystrophy
DNA:missense mutation:cds:p.R195L(human)		 ClinVar
RGD		 PMID:25741868 PMID:8644804 PMID:16832026 RGD:8553207, RGD:8554858 NCBI chr17:47,221,404...47,235,859
Ensembl chr17:47,221,385...47,235,859 		JBrowse link
G Ttll5 tubulin tyrosine ligase-like family, member 5 ISO ClinVar Annotator: match by term: Central areolar choroidal dystrophy ClinVar PMID:25741868 NCBI chr12:85,871,417...86,100,534
Ensembl chr12:85,871,433...86,108,667 		JBrowse link
G Vmn2r17 vomeronasal 2, receptor 17 ISO ClinVar Annotator: match by term: Central areolar choroidal dystrophy ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:32531858 NCBI chr 5:109,567,879...109,601,253
Ensembl chr 5:109,567,554...109,606,325 		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
IAGP		 OMIM:303100
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CHM-related condition | ClinVar Annotator: match by term: Choroideremia | ClinVar Annotator: match by term: Choroideremia, Salla type		 OMIM
MouseDO
CTD
ClinVar		 PMID:1044764 PMID:1302003 PMID:1598901 PMID:7981670 PMID:7981671 More... NCBI chr  X:111,950,289...112,095,236
Ensembl chr  X:111,950,290...112,095,214 		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 chr17:47,221,404...47,235,859
Ensembl chr17:47,221,385...47,235,859 		JBrowse link
choroiditis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ifng interferon gamma IDA RGD PMID:10227812 RGD:8157614 NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797 		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 7:132,197,968...132,201,366
Ensembl chr 7:132,196,607...132,201,366 		JBrowse link
G Oat ornithine aminotransferase ISO
IAGP		 ClinVar Annotator: match by term: Ornithine aminotransferase deficiency
CTD Direct Evidence: marker/mechanism
OMIM:258870		 ClinVar
CTD
MouseDO
OMIM
RGD		 PMID:1301936 PMID:1427882 PMID:1487247 PMID:1609808 PMID:1612597 More... RGD:1600292 NCBI chr 7:132,159,204...132,178,127
Ensembl chr 7:132,159,207...132,178,127 		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 chr 1:22,356,196...22,845,239
Ensembl chr 1:22,356,475...22,845,203 		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 chr15:88,983,300...89,007,411
Ensembl chr15:88,982,560...89,007,315 		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 chr19:37,364,830...37,410,311
Ensembl chr19:37,364,851...37,410,307 		JBrowse link
G Plk4 polo like kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:40,754,463...40,771,318
Ensembl chr 3:40,754,454...40,771,318 		JBrowse link
G Trp53bp1 transformation related protein 53 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 chr 2:121,025,316...121,126,830
Ensembl chr 2:121,023,762...121,101,888 		JBrowse link
G Tubgcp4 tubulin, gamma complex component 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Microcephaly with chorioretinopathy, autosomal recessive		 CTD
ClinVar		 PMID:24033266 PMID:25741868 PMID:25817018 PMID:28492532 PMID:35418825 NCBI chr 2:121,001,124...121,029,251
Ensembl chr 2:121,001,135...121,029,251 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:5936364 PMID:9536098 PMID:17576681 PMID:22279524 PMID:25344692 More... NCBI chr15:88,983,300...89,007,411
Ensembl chr15:88,982,560...89,007,315 		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 3:40,754,463...40,771,318
Ensembl chr 3:40,754,454...40,771,318 		JBrowse link
microcephaly and chorioretinopathy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trp53bp1 transformation related protein 53 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 chr 2:121,025,316...121,126,830
Ensembl chr 2:121,023,762...121,101,888 		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 chr 2:121,001,124...121,029,251
Ensembl chr 2:121,001,135...121,029,251 		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 chr17:35,075,350...35,081,492
Ensembl chr17:35,075,350...35,081,494 		JBrowse link
G Cfh complement component factor h ISO DNA:SNPs, missense mutation:introns, cds:multiple RGD PMID:19001225 RGD:7411728 NCBI chr 1:140,013,593...140,111,149
Ensembl chr 1:140,012,446...140,111,502 		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 IAGP OMIM:613105 MouseDO NCBI chr17:47,221,404...47,235,859
Ensembl chr17:47,221,385...47,235,859 		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 chr17:35,081,578...35,101,076
Ensembl chr17:35,081,580...35,117,241 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		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 chr 5:134,731,449...134,776,300
Ensembl chr 5:134,731,447...134,776,177 		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 7:130,537,933...130,587,388
Ensembl chr 7:130,537,841...130,587,390 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
Presumed Ocular Histoplasmosis Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H2-M2 histocompatibility 2, M region locus 2 ISO DNA:polymorphism:cds:HLA-B7 (human) RGD PMID:14522093 RGD:7364917 NCBI chr17:37,791,742...37,794,445
Ensembl chr17:37,791,742...37,794,443 		JBrowse link
Toxoplasma Chorioretinitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cxcl15 C-X-C motif chemokine ligand 15 severity ISO protein:increased expression:serum (human) RGD PMID:17488320 RGD:39939053 NCBI chr 5:90,942,393...90,950,926
Ensembl chr 5:90,942,393...90,950,926 		JBrowse link
G Il10 interleukin 10 ISO DNA:SNP:promoter:−1082G>A (human) RGD PMID:18436829 RGD:7365046 NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711 		JBrowse link
G Il6 interleukin 6 susceptibility ISO DNA:polymorphism:promoter:-174G>C(human) RGD PMID:23336844 RGD:7829805 NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16263
    sensory system disease 7185
      eye disease 3716
        uveal disease 246
          choroid disease 66
            Choroid Hemorrhage 0
            Choroid Neoplasms + 0
            Choroidal Effusions + 0
            Choroidal Neovascularization + 46
            Choroideremia + 2
            Microcephaly and Chorioretinopathy + 5
            Noble Bass Sherman Syndrome 0
            Presumed Ocular Histoplasmosis Syndrome 1
            autosomal dominant vitreoretinochoroidopathy 2
            choroidal sclerosis + 4
            choroiditis + 10
            gyrate atrophy + 3
Path 2
Term Annotations click to browse term
  disease 16263
    disease of anatomical entity 15855
      nervous system disease 13791
        Neurologic Manifestations 10198
          sensory system disease 7185
            eye disease 3716
              uveal disease 246
                choroid disease 66
                  Choroid Hemorrhage 0
                  Choroid Neoplasms + 0
                  Choroidal Effusions + 0
                  Choroidal Neovascularization + 46
                  Choroideremia + 2
                  Microcephaly and Chorioretinopathy + 5
                  Noble Bass Sherman Syndrome 0
                  Presumed Ocular Histoplasmosis Syndrome 1
                  autosomal dominant vitreoretinochoroidopathy 2
                  choroidal sclerosis + 4
                  choroiditis + 10
                  gyrate atrophy + 3
paths to the root