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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.


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 chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313 		JBrowse link
G Nhej1 nonhomologous end-joining factor 1 ISO Choroidal hypoplasia, NHEJ1-related OMIA PMID:120471 PMID:480920 PMID:4631461 PMID:4959239 PMID:4980211 More... NCBI chr 9:76,526,322...76,622,488
Ensembl chr 9:76,526,324...76,622,444 		JBrowse link
G Prph2 peripherin 2 ISO ClinVar Annotator: match by term: Choroidal Dystrophy ClinVar PMID:25741868 PMID:28492532 PMID:32531846 NCBI chr 9:14,066,149...14,081,454
Ensembl chr 9:14,066,156...14,081,454 		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: VRCP autosomal dominant
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:10798642 PMID:10854112 PMID:11585313 PMID:12543751 More... NCBI chr 1:206,629,340...206,646,085
Ensembl chr 1:206,629,500...206,646,063 		JBrowse link
G Fth1 ferritin heavy chain 1 ISO ClinVar Annotator: match by term: Autosomal dominant vitreoretinochoroidopathy | ClinVar Annotator: match by term: VRCP autosomal dominant ClinVar PMID:14615048 PMID:25741868 PMID:28492532 PMID:28687848 NCBI chr 1:206,627,142...206,629,430
Ensembl chr 1:206,627,103...206,725,424 		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 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566 		JBrowse link
G RT1-CE13 RT1 class I, locus CE13 ISO DNA:polymorphisms:cds:HLA-B12 (human) RGD PMID:3341436 RGD:7365121 NCBI chr20:3,314,830...3,318,106 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:7493155 PMID:7825692 PMID:7880786 PMID:8015786 PMID:8111389 More... NCBI chr 9:14,066,149...14,081,454
Ensembl chr 9:14,066,156...14,081,454 		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 chr 7:129,098,489...129,127,560
Ensembl chr 7:129,098,786...129,127,546 		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 chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564 		JBrowse link
G Aoc3 amine oxidase, copper containing 3 IMP RGD PMID:18436961 RGD:2313908 NCBI chr10:86,272,757...86,280,702 JBrowse link
G Bmp4 bone morphogenetic protein 4 ISO RGD PMID:21411747 PMID:22392094 RGD:8699493, RGD:8699501 NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306 		JBrowse link
G C5 complement C5 ISO RGD PMID:16849499 RGD:7411733 NCBI chr 3:18,270,696...18,361,994
Ensembl chr 3:18,270,696...18,361,994 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 treatment ISO RGD PMID:17389519 RGD:8548832 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226 		JBrowse link
G Ccr2 C-C motif chemokine receptor 2 ISO RGD PMID:22205983 RGD:8657364 NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100 		JBrowse link
G Ccr3 C-C motif chemokine receptor 3 ISO RGD PMID:19525930 RGD:6893454 NCBI chr 8:123,586,100...123,634,178
Ensembl chr 8:123,616,236...123,634,990 		JBrowse link
G Cfb complement factor B ISO RGD PMID:16849499 RGD:7411733 NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505 		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 chr13:51,512,376...51,613,829
Ensembl chr13:51,511,828...51,613,838 		JBrowse link
G Dll4 delta like canonical Notch ligand 4 treatment IEP RGD PMID:21063852 RGD:12859045 NCBI chr 3:106,317,114...106,327,004
Ensembl chr 3:106,316,986...106,326,931 		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 chr16:76,489,775...76,500,636
Ensembl chr16:76,489,717...76,500,610 		JBrowse link
G Fgf2 fibroblast growth factor 2 treatment IEP RGD PMID:10359334 RGD:8655568 NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221 		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 chr12:7,296,899...7,468,626
Ensembl chr12:7,297,292...7,468,626 		JBrowse link
G Gli1 GLI family zinc finger 1 treatment IEP RGD PMID:21063852 RGD:12859045 NCBI chr 7:63,156,926...63,169,579
Ensembl chr 7:63,156,926...63,169,251 		JBrowse link
G Hgf hepatocyte growth factor IEP protein:increased expression:choroidal tissue: RGD PMID:19013152 RGD:8548599 NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409 		JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha treatment IEP RGD PMID:21063852 RGD:12859045 NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261 		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 1:185,497,815...185,547,380
Ensembl chr 1:185,497,735...185,547,379 		JBrowse link
G Icam1 intercellular adhesion molecule 1 IEP mRNA:increased expression:retina, choroid, sclera (rat) RGD PMID:20497436 RGD:4145405 NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438 		JBrowse link
G Igf1r insulin-like growth factor 1 receptor treatment ISO RGD PMID:19032681 RGD:10045869 NCBI chr 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777 		JBrowse link
G Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta treatment ISO RGD PMID:24489934 RGD:10045942 NCBI chr16:69,319,487...69,373,251
Ensembl chr16:69,319,554...69,373,250 		JBrowse link
G Il10 interleukin 10 treatment ISO RGD PMID:22802947 PMID:16903779 RGD:7364853, RGD:7365068 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313 		JBrowse link
G Il2 interleukin 2 treatment ISO associated with Macular Degeneration;protein:decreased expression:aqueous humor: RGD PMID:19262441 RGD:10047086 NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566 		JBrowse link
G Itgav integrin subunit alpha V IMP RGD PMID:15287373 RGD:1582458 NCBI chr 3:68,838,514...68,926,653
Ensembl chr 3:68,838,189...68,926,639 		JBrowse link
G Jam3 junctional adhesion molecule 3 treatment ISO RGD PMID:22323465 RGD:7488935 NCBI chr 8:25,508,461...25,569,306
Ensembl chr 8:25,507,057...25,569,355 		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 chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018 		JBrowse link
G Lep leptin IEP associated with Metabolic Syndrome X;mRNA:increased expression:retina (rat) RGD PMID:25380250 RGD:10053625 NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262 		JBrowse link
G Loxl1 lysyl oxidase-like 1 ISO RGD PMID:18296663 RGD:7394725 NCBI chr 8:58,691,763...58,716,365
Ensembl chr 8:58,692,593...58,716,356 		JBrowse link
G Mmp13 matrix metallopeptidase 13 ISO RGD PMID:20700625 PMID:20700625 RGD:10043118, RGD:10043118 NCBI chr 8:4,497,960...4,508,239
Ensembl chr 8:4,497,960...4,508,239 		JBrowse link
G Mmp2 matrix metallopeptidase 2 treatment ISO
IDA		 RGD PMID:21666238 PMID:25314292 RGD:8657062, RGD:13207327 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870 		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 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Ptch1 patched 1 IEP mRNA,protein:increased expression:choroid: RGD PMID:21063852 RGD:12859045 NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333 		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 NCBI chr20:3,314,830...3,318,106 JBrowse link
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 More... RGD:2312356, RGD:28867245, RGD:27226711, RGD:8655557, RGD:8554883, RGD:8554866 NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646 		JBrowse link
G Sod1 superoxide dismutase 1 ISO RGD PMID:16844785 RGD:1581207 NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249 		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 chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057 		JBrowse link
G Tlr2 toll-like receptor 2 ISO associated with Chlamydophila Infections; RGD PMID:20393111 RGD:8552825 NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630 		JBrowse link
G Tymp thymidine phosphorylase IEP RGD PMID:12556409 RGD:2293727 NCBI chr 7:120,438,768...120,444,088
Ensembl chr 7:120,438,770...120,443,874
Ensembl chr 7:120,438,770...120,443,874 		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 1:141,115,036...141,210,207
Ensembl chr 1:141,115,036...141,210,207 		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
RGD		 PMID:16680105 PMID:20237252 PMID:19013152 PMID:16723717 RGD:7483614, RGD:8548599, RGD:8548459 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641 		JBrowse link
G Vegfb vascular endothelial growth factor B ISO RGD PMID:19369214 RGD:2314323 NCBI chr 1:204,172,297...204,178,046
Ensembl chr 1:204,172,225...204,177,944 		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 IEP RGD PMID:21526177 RGD:155663484 NCBI chr 3:106,317,114...106,327,004
Ensembl chr 3:106,316,986...106,326,931 		JBrowse link
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 chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657 		JBrowse link
G Smo smoothened, frizzled class receptor treatment IMP RGD PMID:21063852 RGD:12859045 NCBI chr 4:58,343,626...58,373,823
Ensembl chr 4:58,343,529...58,373,829 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Choroidal dystrophy, central areolar, 1		 OMIM
CTD
ClinVar		 PMID:8554074 PMID:8733141 PMID:8944027 PMID:9536098 PMID:9618177 More... NCBI chr10:53,954,918...53,975,576
Ensembl chr10:53,959,010...53,974,067 		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 chr 9:14,066,149...14,081,454
Ensembl chr 9:14,066,156...14,081,454 		JBrowse link
G Ttll5 tubulin tyrosine ligase like 5 ISO ClinVar Annotator: match by term: Central areolar choroidal dystrophy ClinVar PMID:25741868 NCBI chr 6:105,483,091...105,700,920
Ensembl chr 6:105,483,191...105,700,934 		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
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:303100
ClinVar Annotator: match by term: CHM-related condition | ClinVar Annotator: match by term: Choroideremia | ClinVar Annotator: match by term: Choroideremia, Salla type		 OMIM
CTD
MouseDO
ClinVar		 PMID:1044764 PMID:1302003 PMID:1598901 PMID:7981670 PMID:8477262 More... NCBI chr  X:78,203,200...78,361,996
Ensembl chr  X:78,203,204...78,361,943 		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 chr 9:14,066,149...14,081,454
Ensembl chr 9:14,066,156...14,081,454 		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 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375 		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
ISS		 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 chr 1:187,347,862...187,367,644
Ensembl chr 1:187,347,865...187,367,682 		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 9:24,696,959...25,196,404
Ensembl chr 9:24,698,854...25,196,631 		JBrowse link
malignant choroid melanoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eif1ax eukaryotic translation initiation factor 1A, X-linked ISO ClinVar Annotator: match by term: Choroidal melanoma ClinVar PMID:25741868 NCBI chr  X:35,498,698...35,513,402
Ensembl chr  X:35,498,517...35,513,335 		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 chr 7:120,177,686...120,198,986
Ensembl chr 7:120,177,686...120,199,011 		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 1:235,124,371...235,176,760
Ensembl chr 1:235,124,316...235,176,766 		JBrowse link
G Plk4 polo-like kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:123,802,527...123,820,942
Ensembl chr 2:123,802,512...123,820,942 		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 NCBI chr 3:108,166,574...108,270,229
Ensembl chr 3:108,169,980...108,269,822 		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 NCBI chr 3:108,141,081...108,172,207
Ensembl chr 3:108,141,625...108,169,437 		JBrowse link
G Tubgcp6 tubulin gamma complex component 6 ISO ClinVar Annotator: match by term: Microcephaly and chorioretinopathy 1
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:5936364 PMID:9536098 PMID:17576681 PMID:22279524 PMID:25344692 More... NCBI chr 7:120,177,686...120,198,986
Ensembl chr 7:120,177,686...120,199,011 		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 2:123,802,527...123,820,942
Ensembl chr 2:123,802,512...123,820,942 		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: Microcephaly and chorioretinopathy, autosomal recessive, 3 ClinVar PMID:24033266 PMID:25741868 PMID:25817018 PMID:28492532 NCBI chr 3:108,166,574...108,270,229
Ensembl chr 3:108,169,980...108,269,822 		JBrowse link
G Tubgcp4 tubulin gamma complex component 4 ISO ClinVar Annotator: match by term: Microcephaly and chorioretinopathy 3 | ClinVar Annotator: match by term: Microcephaly and chorioretinopathy, autosomal recessive, 3 OMIM
ClinVar		 PMID:16199547 PMID:24033266 PMID:25741868 PMID:25817018 PMID:28492532 NCBI chr 3:108,141,081...108,172,207
Ensembl chr 3:108,141,625...108,169,437 		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 chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505 		JBrowse link
G Cfh complement factor H ISO DNA:SNPs, missense mutation:introns, cds:multiple RGD PMID:19001225 RGD:7411728 NCBI chr13:51,512,376...51,613,829
Ensembl chr13:51,511,828...51,613,838 		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 9:14,066,149...14,081,454
Ensembl chr 9:14,066,156...14,081,454 		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 chr20:3,951,474...3,970,376
Ensembl chr20:3,951,474...3,976,505 		JBrowse link
G Cfb complement factor B susceptibility ISO DNA:snp:intron:c.1169-69T>C (rs541862) (human) RGD PMID:22232432 RGD:7411694 NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505 		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 chr13:51,512,376...51,613,829
Ensembl chr13:51,511,828...51,613,838 		JBrowse link
G Crp C-reactive protein ISO RGD PMID:17400294 RGD:9491775 NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178 		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 chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928 		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 1:185,497,815...185,547,380
Ensembl chr 1:185,497,735...185,547,379 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO protein:increased expression:serum RGD PMID:23559867 RGD:8547885 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:serum RGD PMID:23559867 RGD:8547885 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Vegfa vascular endothelial growth factor A susceptibility ISO DNA:SNP,haplotype: :rs833069(human) RGD PMID:22307775 RGD:7483605 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641 		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 chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313 		JBrowse link
G Il6 interleukin 6 susceptibility ISO DNA:polymorphism:promoter:-174G>C(human) RGD PMID:23336844 RGD:7829805 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    sensory system disease 6961
      eye disease 3492
        uveal disease 244
          choroid disease 63
            Choroid Hemorrhage 0
            Choroid Neoplasms + 1
            Choroidal Effusions + 0
            Choroidal Neovascularization + 45
            Choroideremia + 2
            Microcephaly and Chorioretinopathy + 5
            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 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        Neurologic Manifestations 10055
          sensory system disease 6961
            eye disease 3492
              uveal disease 244
                choroid disease 63
                  Choroid Hemorrhage 0
                  Choroid Neoplasms + 1
                  Choroidal Effusions + 0
                  Choroidal Neovascularization + 45
                  Choroideremia + 2
                  Microcephaly and Chorioretinopathy + 5
                  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