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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:Kuhnt-Junius degeneration
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Accession:DOID:10873 term browser browse the term
Definition:A form of RETINAL DEGENERATION in which abnormal CHOROIDAL NEOVASCULARIZATION occurs under the RETINA and MACULA LUTEA, causing bleeding and leaking of fluid. This leads to bulging and or lifting of the macula and the distortion or destruction of central vision.
Synonyms:exact_synonym: Exudative Macular Degeneration;   Exudative senile macular degeneration of retina;   Neovascular Age-Related Macular Degeneration;   Senile macular degeneration, wet;   Wet Macular Degeneration;   Wet Macular Degenerations;   Wet senile macular retinal degeneration;   exudative age-related macular degeneration
 primary_id: MESH:D057135;   RDO:0007784
 xref: EFO:0004683;   ICD10CM:H35.32;   ICD9CM:362.52
For additional species annotation, visit the Alliance of Genome Resources.


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Kuhnt-Junius degeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Anxa5 annexin A5 ISO mRNA:increased expression:white blood cell: RGD PMID:19684010 RGD:6478714 NCBI chr 2:119,314,007...119,344,703
Ensembl chr 2:119,314,007...119,353,369 		JBrowse link
G Apoe apolipoprotein E susceptibility ISO DNA:polymorphism:exon: RGD PMID:9512153 PMID:16079201 RGD:7495762, RGD:7775015 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932 		JBrowse link
G C3 complement C3 ISO DNA:SNP: :rs2241394 (human) RGD PMID:22174912 RGD:7401249 NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 severity ISO protein:increased expression:aqueous humor of eyeball (human) RGD PMID:20937997 RGD:8548855 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 protein:increased expression:monocyte: RGD PMID:22789920 RGD:8661669 NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100 		JBrowse link
G Cfi complement factor I ISO DNA:SNPs: :rs10033900, rs13117504 (human) RGD PMID:23900096 RGD:8662315 NCBI chr 2:218,389,079...218,430,565
Ensembl chr 2:218,387,990...218,430,561 		JBrowse link
G Crp C-reactive protein treatment ISO DNA:SNPs: :rs2808635,rs876538(human) RGD PMID:19692124 PMID:17400294 RGD:9491756, RGD:9491775 NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178 		JBrowse link
G Eln elastin no_association ISO DNA:SNPintron: rs2301995(human) RGD PMID:22065928 PMID:18326737 RGD:7387224, RGD:9585729 NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928 		JBrowse link
G Fgd6 FYVE, RhoGEF and PH domain containing 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27089177 NCBI chr 7:28,597,609...28,712,908
Ensembl chr 7:28,597,609...28,712,456 		JBrowse link
G Flt1 Fms related receptor tyrosine kinase 1 susceptibility
treatment		 ISO DNA:SNP::rs9943922, rs9508034, rs2281827, rs7324510, rs9513115 (human)
protein:increased expression:vitreous:		 RGD PMID:24812550 PMID:20609706 PMID:22868384 RGD:10402108, RGD:10402116, RGD:10402118 NCBI chr12:7,296,899...7,468,626
Ensembl chr12:7,297,292...7,468,626 		JBrowse link
G Gstm1 glutathione S-transferase mu 1 susceptibility ISO DNA:deletion, haplotype:: (human) RGD PMID:28221473 RGD:12792224 NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411 		JBrowse link
G Gstp1 glutathione S-transferase pi 1 susceptibility ISO DNA:polymorphism::(rs1695)(human)
DNA:deletion, haplotype:: (human)		 RGD PMID:22487578 PMID:28221473 RGD:8547932, RGD:12792224 NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226 		JBrowse link
G Gstt1 glutathione S-transferase theta 1 susceptibility ISO DNA:deletion, haplotype:: (human) RGD PMID:28221473 RGD:12792224 NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585 		JBrowse link
G Htra1 HtrA serine peptidase 1 susceptibility ISO DNA:snp:promoter:g.-625G>A (rs11200638) (human)
DNA:silent mutations:exon:g.+102C>T, g.+108G>T/C (rs1049331, rs2293870) (human)		 RGD PMID:22800422 PMID:18164066 RGD:7387322, RGD:7394724 NCBI chr 1:185,497,815...185,547,380
Ensembl chr 1:185,497,735...185,547,379 		JBrowse link
G Igf1 insulin-like growth factor 1 ISO protein:increased expression:aqueous humor of eyeball:
mRNA,protein:increased expression:endothelial cell:		 RGD PMID:24106111 PMID:12714661 RGD:10045867, RGD:10045893 NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296 		JBrowse link
G Igf1r insulin-like growth factor 1 receptor ISO mRNA,protein:increased expression:endothelial cell: RGD PMID:12714661 RGD:10045893 NCBI chr 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777 		JBrowse link
G Igfbp2 insulin-like growth factor binding protein 2 ISO protein:increased expression:aqueous humor of eyeball: RGD PMID:24106111 RGD:10045867 NCBI chr 9:74,415,574...74,442,945
Ensembl chr 9:74,415,546...74,442,937 		JBrowse link
G Il6 interleukin 6 ISO protein:increased expression:aqueous humor: RGD PMID:22490043 RGD:7829793 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
G Kdr kinase insert domain receptor susceptibility ISO DNA:SNP: :rs2071559(human) RGD PMID:22919317 RGD:8549752 NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018 		JBrowse link
G Loxl1 lysyl oxidase-like 1 ISO DNA:SNP:exon:p.R141L (human) RGD PMID:21236409 RGD:7387334 NCBI chr 8:58,691,763...58,716,365
Ensembl chr 8:58,692,593...58,716,356 		JBrowse link
G Mapk8 mitogen-activated protein kinase 8 ISO RGD PMID:23341606 RGD:10412675 NCBI chr16:8,638,897...8,721,960
Ensembl chr16:8,638,924...8,721,981 		JBrowse link
G Mdm1 Mdm1 nuclear protein ISO DNA, mRNA:nonsense mutation, decreased expression:retina RGD PMID:18805803 RGD:10412062 NCBI chr 7:53,729,603...53,766,034
Ensembl chr 7:53,729,610...53,766,034 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:SNP:cds:rs1801133(human) RGD PMID:22065928 RGD:7387224 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797 		JBrowse link
G Nos3 nitric oxide synthase 3 susceptibility ISO DNA:snp:cds:c.894G>T (rs1799983) (human) RGD PMID:23276910 RGD:7771558 NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166 		JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO protein:increased expression:plasma: RGD PMID:24334449 RGD:10449444 NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984 		JBrowse link
G Pdgfrb platelet derived growth factor receptor beta ISO RGD PMID:22773904 RGD:10053644 NCBI chr18:54,499,962...54,538,840
Ensembl chr18:54,499,964...54,538,843 		JBrowse link
G Pon1 paraoxonase 1 susceptibility ISO protein:decreased activity:serum (human)
DNA:missense mutations:cds:p.L55M, p.Q192R (human)		 RGD PMID:19155603 PMID:20042177 RGD:8547556, RGD:8547668 NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360 		JBrowse link
G Sod2 superoxide dismutase 2 susceptibility ISO DNA:polymorphism:cds:p.V16A(rs4880)(human) RGD PMID:18573360 RGD:8158102 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189 		JBrowse link
G Tlr2 toll-like receptor 2 ISO mRNA:increased expression:peripheral blood mononuclear cell: RGD PMID:23946637 RGD:8552827 NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630 		JBrowse link
G Tlr3 toll-like receptor 3 ISO mRNA:increased expression:peripheral blood mononuclear cell: RGD PMID:23946637 RGD:8552827 NCBI chr16:46,821,980...46,837,900
Ensembl chr16:46,822,039...46,836,545 		JBrowse link
G Vegfa vascular endothelial growth factor A treatment ISO DNA:SNP: :rs943080(human)
DNA:SNP: :rs3025000(human)		 RGD PMID:23745581 PMID:23149126 RGD:7483607, RGD:7483627 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641 		JBrowse link
Subretinal Fibrosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il6 interleukin 6 ISO RGD PMID:24790857 RGD:10402815 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
G Il6r interleukin 6 receptor treatment ISO RGD PMID:24790857 RGD:10402815 NCBI chr 2:175,289,157...175,347,719
Ensembl chr 2:175,298,686...175,347,536 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    Diseases of the Aged 1474
      macular degeneration 161
        Kuhnt-Junius degeneration 32
          Subretinal Fibrosis 2
Path 2
Term Annotations click to browse term
  disease 18976
    Pathological Conditions, Signs and Symptoms 13376
      Signs and Symptoms 10866
        Neurologic Manifestations 10102
          sensory system disease 7022
            eye disease 3492
              eye degenerative disease 856
                retinal degeneration 854
                  macular degeneration 161
                    degeneration of macula and posterior pole 78
                      Kuhnt-Junius degeneration 32
                        Subretinal Fibrosis 2
paths to the root