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.
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Ager
advanced glycosylation end product-specific receptor
ISO
protein:increased expression:vitreous humor
RGD
PMID:16364297
RGD:8695978
NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
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Apoa4
apolipoprotein A4
ISO
protein:increased expression:vitreous humor (human)
RGD
PMID:19081814
RGD:5685692
NCBI chr 8:46,539,083...46,541,464
Ensembl chr 8:46,539,082...46,541,469
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Bdnf
brain-derived neurotrophic factor
ISO
protein:decreased expression:photoreceptor outer segment layer:
RGD
PMID:18405896
RGD:8655629
NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615
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Capn5
calpain 5
ISO
ClinVar Annotator: match by term: Proliferative vitreoretinopathy
OMIM ClinVar
PMID:2234842 PMID:23055945 PMID:24381307 PMID:25994508 PMID:28492532 PMID:29472286 PMID:29610848 PMID:30986125 More...
NCBI chr 1:152,416,252...152,472,923
Ensembl chr 1:152,416,252...152,472,923
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Cat
catalase
ISO
protein:decreased activity:vitreous humor:
RGD
PMID:10450379
RGD:9068932
NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
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Edn1
endothelin 1
ISO
protein:increased expression:plasma (human)
RGD
PMID:23974951
RGD:8661680
NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
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Fgf2
fibroblast growth factor 2
ISO
associated with Retinal Detachment
RGD
PMID:9613386
RGD:8655597
NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221
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Hgf
hepatocyte growth factor
ISO
protein:increased expression:vitreous humor:
RGD
PMID:10967068
RGD:8548540
NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409
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Icam1
intercellular adhesion molecule 1
ISO
associated with Retinal Detachment;protein:increased expression:vitreous humor
RGD
PMID:10413701
RGD:8547581
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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Igfbp6
insulin-like growth factor binding protein 6
severity
ISO
protein:increased expression:vitreous,serum:
RGD
PMID:23808406
RGD:10411880
NCBI chr 7:133,276,309...133,280,944
Ensembl chr 7:133,276,234...133,280,966
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Il6
interleukin 6
ISO
protein:increased expression:vitreous:
RGD
PMID:1800167
RGD:7829748
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Kng2
kininogen 2
severity
ISO
protein:increased expression:vitreous,serum:
RGD
PMID:23808406
RGD:10411880
NCBI chr11:77,913,876...77,936,247
Ensembl chr11:77,909,612...78,002,971
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Lrp5
LDL receptor related protein 5
ISO
DNA:mutations: :p.R570Q, p.R752G, p.E1367K (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:18263894 PMID:15346351
RGD:1599835
NCBI chr 1:200,814,247...200,917,581
Ensembl chr 1:200,814,250...200,917,581
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Lta
lymphotoxin alpha
ISO
DNA:SNP, haplotype:CDS:rs2229094 (human)
RGD
PMID:20663564
RGD:8548782
NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859
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Serpinf1
serpin family F member 1
ISO
protein:increased expression:plasma (human)
RGD
PMID:18939350
RGD:36174007
NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646
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Atoh7
atonal bHLH transcription factor 7
ISS
OMIM:221900 | OMIM:611308
MouseDO
NCBI chr20:25,530,826...25,531,275
Ensembl chr20:25,530,826...25,531,275
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Cdkn2a
cyclin-dependent kinase inhibitor 2A
ISO
RGD
PMID:16620915
RGD:8552304
NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149
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Ndp
norrin cystine knot growth factor NDP
ISO
ClinVar Annotator: match by term: Persistent hyperplastic primary vitreous
ClinVar
PMID:25741868
NCBI chr X:5,796,487...5,820,934
Ensembl chr X:5,796,487...5,820,934
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Pax6
paired box 6
ISO
DNA:snp:cds:pN64K (mouse)
RGD
PMID:19345209
RGD:8551891
NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014
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Atoh7
atonal bHLH transcription factor 7
ISO
ClinVar Annotator: match by term: Persistent hyperplastic primary vitreous, autosomal recessive
OMIM ClinVar
PMID:9677055 PMID:11527934 PMID:21441919 PMID:21474777 PMID:22068589 PMID:22645276 PMID:28492532 More...
NCBI chr20:25,530,826...25,531,275
Ensembl chr20:25,530,826...25,531,275
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Tspan12
tetraspanin 12
ISO
ClinVar Annotator: match by term: Persistent hyperplastic primary vitreous, autosomal recessive
ClinVar
PMID:25250762
NCBI chr 4:50,313,768...50,389,246
Ensembl chr 4:50,313,772...50,389,246
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Col11a1
collagen type XI alpha 1 chain
ISO
ClinVar Annotator: match by term: Stickler syndrome type 2 | ClinVar Annotator: match by term: Stickler syndrome, beaded vitreous type
OMIM ClinVar
PMID:7695699 PMID:8218237 PMID:8872475 PMID:9536098 PMID:10486316 PMID:10573014 PMID:10612821 PMID:10725403 PMID:11668615 PMID:15922184 PMID:17576681 PMID:17999364 PMID:19344236 PMID:20513134 PMID:23967202 PMID:25240749 PMID:25326635 PMID:25741868 PMID:26467025 PMID:27081569 PMID:28492532 PMID:30245029 More...
NCBI chr 2:201,820,715...202,013,853
Ensembl chr 2:201,820,715...202,013,853
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