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 IAGP DNA:SNP:promoter:rs6703630 (human) RGD PMID:21357402 RGD:7364844 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541 		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 2:219,069,357...219,160,815
Ensembl chr 2:219,069,355...219,160,869 		JBrowse link
G PRPH2 peripherin 2 IAGP ClinVar Annotator: match by term: Choroidal Dystrophy ClinVar PMID:25741868 PMID:28492532 PMID:32531846 NCBI chr 6:42,696,598...42,722,597
Ensembl chr 6:42,696,598...42,722,597 		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 IAGP
EXP		 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 Annotator: match by term: Autosomal dominant vitreoretinochoroidopathy | ClinVar Annotator: match by term: VRCP autosomal dominant
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 2		 ClinVar
CTD
OMIM		 PMID:2133066 PMID:9536098 PMID:10737974 PMID:10788642 PMID:10798642 More... NCBI chr11:61,949,821...61,965,515
Ensembl chr11:61,950,063...61,965,515 		JBrowse link
G FTH1 ferritin heavy chain 1 IAGP 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 Annotator: match by term: Autosomal dominant vitreoretinochoroidopathy | ClinVar Annotator: match by term: VRCP autosomal dominant		 ClinVar PMID:2133066 PMID:10788642 PMID:10798642 PMID:14615048 PMID:18985398 More... NCBI chr11:61,964,285...61,967,634
Ensembl chr11:61,959,718...61,967,634 		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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:36013011 NCBI chr 5:96,875,939...96,919,716
Ensembl chr 5:96,875,986...96,919,703 		JBrowse link
G HLA-B major histocompatibility complex, class I, B IAGP DNA:polymorphism:cds:HLA-B12 (human) RGD PMID:3341436 RGD:7365121 NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067 		JBrowse link
G IL2 interleukin 2 IEP protein:increased expression:aqueous humor RGD PMID:21570674 RGD:5147908 NCBI chr 4:122,451,470...122,456,725
Ensembl chr 4:122,451,470...122,456,725 		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 IAGP
EXP		 ClinVar Annotator: match by term: MACULAR DYSTROPHY, PROGRESSIVE
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 chr 6:42,696,598...42,722,597
Ensembl chr 6:42,696,598...42,722,597 		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 IAGP associated with Toxoplasmosis, Congenital;DNA:snp:intron:IVS2-218 (rs1793958) (human) RGD PMID:18523590 RGD:8657355 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554 		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:17466298 PMID:22633972 PMID:16689928 RGD:8694464, RGD:8695931, RGD:2289282 NCBI chr 3:186,842,710...186,858,463
Ensembl chr 3:186,842,704...186,858,463 		JBrowse link
G AOC3 amine oxidase copper containing 3 ISO RGD PMID:18436961 RGD:2313908 NCBI chr17:42,851,199...42,858,124
Ensembl chr17:42,851,184...42,858,130 		JBrowse link
G BMP4 bone morphogenetic protein 4 ISO RGD PMID:21411747 PMID:22392094 RGD:8699493, RGD:8699501 NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761 		JBrowse link
G C5 complement C5 ISO RGD PMID:16849499 RGD:7411733 NCBI chr 9:120,952,335...121,074,865
Ensembl chr 9:120,932,987...121,075,195 		JBrowse link
G CCL2 C-C motif chemokine ligand 2 treatment ISO RGD PMID:17389519 RGD:8548832 NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208 		JBrowse link
G CCR2 C-C motif chemokine receptor 2 ISO RGD PMID:22205983 RGD:8657364 NCBI chr 3:46,354,111...46,360,940
Ensembl chr 3:46,353,864...46,360,940 		JBrowse link
G CCR3 C-C motif chemokine receptor 3 IEP associated with Macular Degeneration RGD PMID:19525930 RGD:6893454 NCBI chr 3:46,210,696...46,266,706
Ensembl chr 3:46,130,890...46,266,706 		JBrowse link
G CFB complement factor B ISO RGD PMID:16849499 RGD:7411733 NCBI chr 6:31,946,095...31,952,084
Ensembl chr 6:31,945,650...31,952,086 		JBrowse link
G CFH complement factor H treatment IDA
IAGP		 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 1:196,652,043...196,747,504
Ensembl chr 1:196,651,754...196,752,476 		JBrowse link
G DLL4 delta like canonical Notch ligand 4 treatment ISO RGD PMID:21063852 RGD:12859045 NCBI chr15:40,929,340...40,939,073
Ensembl chr15:40,929,340...40,939,073 		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 chr13:113,105,788...113,120,685
Ensembl chr13:113,105,788...113,120,685 		JBrowse link
G FGF2 fibroblast growth factor 2 treatment ISO RGD PMID:10359334 RGD:8655568 NCBI chr 4:122,826,682...122,898,236
Ensembl chr 4:122,826,682...122,898,236 		JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 treatment IDA
ISO		 RGD PMID:10849558 PMID:23804076 PMID:23977149 RGD:10402112, RGD:10402115, RGD:10402113 NCBI chr13:28,300,346...28,495,128
Ensembl chr13:28,300,346...28,495,145 		JBrowse link
G GLI1 GLI family zinc finger 1 treatment ISO RGD PMID:21063852 RGD:12859045 NCBI chr12:57,459,785...57,472,268
Ensembl chr12:57,459,785...57,472,268 		JBrowse link
G HGF hepatocyte growth factor ISO protein:increased expression:choroidal tissue: RGD PMID:19013152 RGD:8548599 NCBI chr 7:81,699,010...81,770,047
Ensembl chr 7:81,699,010...81,770,438 		JBrowse link
G HIF1A hypoxia inducible factor 1 subunit alpha treatment ISO RGD PMID:21063852 RGD:12859045 NCBI chr14:61,695,513...61,748,258
Ensembl chr14:61,695,513...61,748,259 		JBrowse link
G HLA-B major histocompatibility complex, class I, B susceptibility IAGP associated with Macular Degeneration; DNA:polymorphisms:cds:HLA-B27 (human) RGD PMID:19728932 RGD:7365097 NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067 		JBrowse link
G HTRA1 HtrA serine peptidase 1 no_association IAGP
IMP		 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 chr10:122,461,553...122,514,907
Ensembl chr10:122,458,551...122,514,907 		JBrowse link
G ICAM1 intercellular adhesion molecule 1 ISO mRNA:increased expression:retina, choroid, sclera (rat) RGD PMID:20497436 RGD:4145405 NCBI chr19:10,271,120...10,286,615
Ensembl chr19:10,271,093...10,286,615 		JBrowse link
G IGF1R insulin like growth factor 1 receptor treatment ISO RGD PMID:19032681 RGD:10045869 NCBI chr15:98,648,539...98,964,530
Ensembl chr15:98,648,539...98,964,530 		JBrowse link
G IKBKB inhibitor of nuclear factor kappa B kinase subunit beta treatment ISO RGD PMID:24489934 RGD:10045942 NCBI chr 8:42,271,302...42,332,460
Ensembl chr 8:42,271,302...42,332,460 		JBrowse link
G IL10 interleukin 10 treatment ISO RGD PMID:22802947 PMID:16903779 RGD:7364853, RGD:7365068 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541 		JBrowse link
G IL2 interleukin 2 treatment IEP associated with Macular Degeneration;protein:decreased expression:aqueous humor: RGD PMID:19262441 RGD:10047086 NCBI chr 4:122,451,470...122,456,725
Ensembl chr 4:122,451,470...122,456,725 		JBrowse link
G ITGAV integrin subunit alpha V ISO RGD PMID:15287373 RGD:1582458 NCBI chr 2:186,590,056...186,680,901
Ensembl chr 2:186,590,010...186,680,901 		JBrowse link
G JAM3 junctional adhesion molecule 3 treatment ISO RGD PMID:22323465 RGD:7488935 NCBI chr11:134,069,072...134,152,001
Ensembl chr11:134,069,071...134,152,001 		JBrowse link
G KDR kinase insert domain receptor treatment ISO
IDA		 RGD PMID:19085383 PMID:15249365 PMID:18436847 PMID:22997228 PMID:12937991 RGD:8549713, RGD:8549747, RGD:8549741, RGD:8549738, RGD:8549716 NCBI chr 4:55,078,481...55,125,595
Ensembl chr 4:55,078,481...55,125,595 		JBrowse link
G LEP leptin ISO associated with Metabolic Syndrome X;mRNA:increased expression:retina (rat) RGD PMID:25380250 RGD:10053625 NCBI chr 7:128,241,278...128,257,629
Ensembl chr 7:128,241,278...128,257,629 		JBrowse link
G LOXL1 lysyl oxidase like 1 ISO RGD PMID:18296663 RGD:7394725 NCBI chr15:73,926,462...73,952,136
Ensembl chr15:73,925,989...73,952,137 		JBrowse link
G MMP13 matrix metallopeptidase 13 ISO
IEP		 RGD PMID:20700625 PMID:20700625 RGD:10043118, RGD:10043118 NCBI chr11:102,942,995...102,955,732
Ensembl chr11:102,942,995...102,955,732 		JBrowse link
G MMP2 matrix metallopeptidase 2 treatment ISO RGD PMID:21666238 PMID:25314292 RGD:8657062, RGD:13207327 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691 		JBrowse link
G MMP9 matrix metallopeptidase 9 treatment ISO
IEP		 protein:increased expression:plasma RGD PMID:12368198 PMID:25314292 PMID:17304258 RGD:8547840, RGD:13207327, RGD:8657061 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561 		JBrowse link
G PTCH1 patched 1 ISO mRNA,protein:increased expression:choroid: RGD PMID:21063852 RGD:12859045 NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057 		JBrowse link
G SERPINF1 serpin family F member 1 treatment ISO
IMP
IDA
IEP		 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 chr17:1,762,060...1,777,565
Ensembl chr17:1,762,029...1,777,565 		JBrowse link
G SOD1 superoxide dismutase 1 ISO RGD PMID:16844785 RGD:1581207 NCBI chr21:31,659,693...31,668,931
Ensembl chr21:31,659,666...31,668,931 		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 chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,568 		JBrowse link
G TLR2 toll like receptor 2 ISO associated with Chlamydophila Infections; RGD PMID:20393111 RGD:8552825 NCBI chr 4:153,684,280...153,710,637
Ensembl chr 4:153,684,050...153,706,260 		JBrowse link
G TYMP thymidine phosphorylase ISO RGD PMID:12556409 RGD:2293727 NCBI chr22:50,525,752...50,530,085
Ensembl chr22:50,525,752...50,530,032 		JBrowse link
G TYR tyrosinase IAGP ClinVar Annotator: match by term: Choroidal neovascularization ClinVar PMID:666627 PMID:1429711 PMID:1820207 PMID:7704033 PMID:7955413 More... NCBI chr11:89,177,875...89,295,759
Ensembl chr11:89,177,875...89,295,759 		JBrowse link
G VEGFA vascular endothelial growth factor A treatment IDA
EXP
ISO		 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 6:43,770,211...43,786,487
Ensembl chr 6:43,770,184...43,786,487 		JBrowse link
G VEGFB vascular endothelial growth factor B ISO RGD PMID:19369214 RGD:2314323 NCBI chr11:64,234,584...64,239,264
Ensembl chr11:64,234,584...64,239,264 		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 chr15:40,929,340...40,939,073
Ensembl chr15:40,929,340...40,939,073 		JBrowse link
G SERPINE1 serpin family E member 1 treatment
severity		 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 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247 		JBrowse link
G SMO smoothened, frizzled class receptor treatment ISO RGD PMID:21063852 RGD:12859045 NCBI chr 7:129,188,633...129,213,545
Ensembl chr 7:129,188,633...129,213,545 		JBrowse link
choroidal sclerosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EYS eyes shut homolog IAGP ClinVar Annotator: match by term: Central areolar choroidal dystrophy ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:32531858 NCBI chr 6:63,719,980...65,707,226
Ensembl chr 6:63,719,980...65,707,226 		JBrowse link
G GUCY2D guanylate cyclase 2D, retinal IAGP
EXP		 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 chr17:8,002,615...8,020,342
Ensembl chr17:8,002,615...8,020,342 		JBrowse link
G PRPH2 peripherin 2 IAGP 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 chr 6:42,696,598...42,722,597
Ensembl chr 6:42,696,598...42,722,597 		JBrowse link
G TTLL5 tubulin tyrosine ligase like 5 IAGP ClinVar Annotator: match by term: Central areolar choroidal dystrophy ClinVar PMID:25741868 NCBI chr14:75,661,246...75,955,079
Ensembl chr14:75,633,625...75,955,079 		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 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Choroideremia
ClinVar Annotator: match by term: CHM-related condition
ClinVar Annotator: match by term: CHM-related condition | ClinVar Annotator: match by term: Choroideremia
OMIM:303100
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Choroideremia, Salla type		 ClinVar
MouseDO
CTD
OMIM		 PMID:1044764 PMID:1302003 PMID:1598901 PMID:7981670 PMID:7981671 More... NCBI chr  X:85,861,180...86,047,558
Ensembl chr  X:85,861,180...86,047,561 		JBrowse link
G LOC129391306 MPRA-validated peak7401 silencer IAGP ClinVar Annotator: match by term: Choroideremia
ClinVar Annotator: match by term: CHM-related condition | ClinVar Annotator: match by term: Choroideremia		 ClinVar PMID:9067750 PMID:23811034 PMID:25741868 PMID:28492532 NCBI chr  X:85,963,871...85,964,071 JBrowse link
G PRPH2 peripherin 2 IAGP ClinVar Annotator: match by term: Progressive tapetochoroidal dystrophy ClinVar PMID:9536098 PMID:11139241 PMID:11704030 PMID:16113362 PMID:16799052 More... NCBI chr 6:42,696,598...42,722,597
Ensembl chr 6:42,696,598...42,722,597 		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 chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740 		JBrowse link
gyrate atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC121815974 NANOG hESC enhancer GRCh37_chr10:126092029-126092572 IAGP ClinVar Annotator: match by term: Ornithine aminotransferase deficiency ClinVar PMID:1427882 PMID:1612597 PMID:1737786 PMID:3339136 PMID:7887415 More... NCBI chr10:124,403,460...124,404,003 JBrowse link
G NKX1-2 NK1 homeobox 2 IAGP ClinVar Annotator: match by term: Ornithine aminotransferase deficiency ClinVar PMID:1737786 PMID:23076989 PMID:28492532 NCBI chr10:124,445,243...124,450,035
Ensembl chr10:124,445,243...124,450,035 		JBrowse link
G OAT ornithine aminotransferase IAGP
ISS
EXP		 ClinVar Annotator: match by term: Ornithine aminotransferase deficiency
OMIM:258870
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:1301936 PMID:1427882 PMID:1487247 PMID:1609808 PMID:1612597 More... RGD:1600292 NCBI chr10:124,397,303...124,418,923
Ensembl chr10:124,397,303...124,418,976 		JBrowse link
G RIMS1 regulating synaptic membrane exocytosis 1 IAGP ClinVar Annotator: match by term: Ornithine aminotransferase deficiency ClinVar PMID:16199547 PMID:25741868 PMID:28492532 PMID:32531858 NCBI chr 6:71,886,550...72,403,145
Ensembl chr 6:71,886,550...72,403,150 		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 IAGP ClinVar Annotator: match by term: Microcephaly and chorioretinopathy with or without intellectual disability ClinVar PMID:25344692 PMID:25741868 PMID:28492532 NCBI chr22:50,217,694...50,245,023
Ensembl chr22:50,217,689...50,245,023 		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 IAGP ClinVar Annotator: match by term: Microcephaly and chorioretinopathy, autosomal recessive, 1 ClinVar PMID:25741868 NCBI chr10:92,593,130...92,655,395
Ensembl chr10:92,574,105...92,655,395 		JBrowse link
G PLK4 polo like kinase 4 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:127,880,893...127,899,224
Ensembl chr 4:127,880,893...127,899,224 		JBrowse link
G TP53BP1 tumor protein p53 binding protein 1 IAGP ClinVar Annotator: match by term: Microcephaly with chorioretinopathy, autosomal recessive ClinVar PMID:24033266 PMID:25741868 PMID:25817018 PMID:28492532 PMID:35418825 NCBI chr15:43,403,061...43,510,640
Ensembl chr15:43,403,061...43,510,728 		JBrowse link
G TUBGCP4 tubulin gamma complex component 4 EXP
IAGP		 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 chr15:43,371,101...43,409,771
Ensembl chr15:43,369,221...43,409,771 		JBrowse link
G TUBGCP6 tubulin gamma complex component 6 IAGP
EXP		 ClinVar Annotator: match by term: Microcephaly and chorioretinopathy 1
ClinVar Annotator: match by term: Microcephaly and chorioretinopathy 1 | ClinVar Annotator: match by term: TUBGCP6-related condition
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:5936364 PMID:9536098 PMID:17576681 PMID:22279524 PMID:25344692 More... NCBI chr22:50,217,694...50,245,023
Ensembl chr22:50,217,689...50,245,023 		JBrowse link
microcephaly and chorioretinopathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC129993054 ATAC-STARR-seq lymphoblastoid active region 21887 IAGP ClinVar Annotator: match by term: PLK4-related condition ClinVar PMID:28492532 NCBI chr 4:127,880,977...127,881,216 JBrowse link
G PLK4 polo like kinase 4 IAGP 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 4:127,880,893...127,899,224
Ensembl chr 4:127,880,893...127,899,224 		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 IAGP 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 chr15:43,403,061...43,510,640
Ensembl chr15:43,403,061...43,510,728 		JBrowse link
G TUBGCP4 tubulin gamma complex component 4 IAGP 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 chr15:43,371,101...43,409,771
Ensembl chr15:43,369,221...43,409,771 		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 IAGP DNA:missense mutations:cds:p.L9H, p.R32Q (rs4151667, rs641153) (human) RGD PMID:19001225 RGD:7411728 NCBI chr 6:31,946,095...31,952,084
Ensembl chr 6:31,945,650...31,952,086 		JBrowse link
G CFH complement factor H IAGP DNA:SNPs, missense mutation:introns, cds:multiple RGD PMID:19001225 RGD:7411728 NCBI chr 1:196,652,043...196,747,504
Ensembl chr 1:196,651,754...196,752,476 		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 6:42,696,598...42,722,597
Ensembl chr 6:42,696,598...42,722,597 		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 IAGP DNA:SNP:intron:c.1360+62G>T (rs547154) (human) RGD PMID:22232432 RGD:7411694 NCBI chr 6:31,897,783...31,945,672
Ensembl chr 6:31,897,785...31,945,673 		JBrowse link
G CFB complement factor B susceptibility IAGP DNA:snp:intron:c.1169-69T>C (rs541862) (human) RGD PMID:22232432 RGD:7411694 NCBI chr 6:31,946,095...31,952,084
Ensembl chr 6:31,945,650...31,952,086 		JBrowse link
G CFH complement factor H susceptibility
no_association		 IAGP 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 1:196,652,043...196,747,504
Ensembl chr 1:196,651,754...196,752,476 		JBrowse link
G CRP C-reactive protein IEP RGD PMID:17400294 RGD:9491775 NCBI chr 1:159,712,289...159,714,589
Ensembl chr 1:159,712,289...159,714,589 		JBrowse link
G ELN elastin susceptibility
no_association		 IAGP DNA:SNP,haplotype: :rs2301995(human)
DNA:SNP: :rs2301995(human) 		RGD PMID:18326737 PMID:21391811 RGD:9585729, RGD:9585730 NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907 		JBrowse link
G HTRA1 HtrA serine peptidase 1 susceptibility IMP
IAGP		 human gene in mouse model
DNA:snp:promoter:g.-625G>A (rs11200638) (human)		 RGD PMID:21844367 PMID:23326481 RGD:7394749, RGD:7394751 NCBI chr10:122,461,553...122,514,907
Ensembl chr10:122,458,551...122,514,907 		JBrowse link
G MMP2 matrix metallopeptidase 2 IEP protein:increased expression:serum RGD PMID:23559867 RGD:8547885 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691 		JBrowse link
G MMP9 matrix metallopeptidase 9 IEP protein:increased expression:serum RGD PMID:23559867 RGD:8547885 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561 		JBrowse link
G VEGFA vascular endothelial growth factor A susceptibility IAGP DNA:SNP,haplotype: :rs833069(human) RGD PMID:22307775 RGD:7483605 NCBI chr 6:43,770,211...43,786,487
Ensembl chr 6:43,770,184...43,786,487 		JBrowse link
Presumed Ocular Histoplasmosis Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HLA-B major histocompatibility complex, class I, B IAGP DNA:polymorphism:cds:HLA-B7 (human) RGD PMID:14522093 RGD:7364917 NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067 		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 IEP protein:increased expression:serum (human) RGD PMID:17488320 RGD:39939053 NCBI chr 4:73,740,569...73,743,716
Ensembl chr 4:73,740,519...73,743,716 		JBrowse link
G IL10 interleukin 10 IAGP DNA:SNP:promoter:−1082G>A (human) RGD PMID:18436829 RGD:7365046 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541 		JBrowse link
G IL6 interleukin 6 susceptibility IAGP DNA:polymorphism:promoter:-174G>C(human) RGD PMID:23336844 RGD:7829805 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 112207
    sensory system disease 22970
      eye disease 8199
        uveal disease 541
          choroid disease 75
            Choroid Hemorrhage 0
            Choroid Neoplasms + 6
            Choroidal Effusions + 0
            Choroidal Neovascularization + 45
            Choroideremia + 3
            Microcephaly and Chorioretinopathy + 6
            Noble Bass Sherman Syndrome 0
            Presumed Ocular Histoplasmosis Syndrome 1
            autosomal dominant vitreoretinochoroidopathy 2
            choroidal sclerosis + 4
            choroiditis + 10
            gyrate atrophy + 4
Path 2
Term Annotations click to browse term
  disease 112207
    disease of anatomical entity 104973
      nervous system disease 56427
        Neurologic Manifestations 34032
          sensory system disease 22970
            eye disease 8199
              uveal disease 541
                choroid disease 75
                  Choroid Hemorrhage 0
                  Choroid Neoplasms + 6
                  Choroidal Effusions + 0
                  Choroidal Neovascularization + 45
                  Choroideremia + 3
                  Microcephaly and Chorioretinopathy + 6
                  Noble Bass Sherman Syndrome 0
                  Presumed Ocular Histoplasmosis Syndrome 1
                  autosomal dominant vitreoretinochoroidopathy 2
                  choroidal sclerosis + 4
                  choroiditis + 10
                  gyrate atrophy + 4
paths to the root