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ONTOLOGY REPORT - ANNOTATIONS


Term:macular degeneration
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Accession:DOID:4448 term browser browse the term
Definition:Degenerative changes in the RETINA usually of older adults which results in a loss of vision in the center of the visual field (the MACULA LUTEA) because of damage to the retina. It occurs in dry and wet forms.
Synonyms:exact_synonym: Macular Degenerations;   Macular Dystrophies;   Macular Dystrophy;   Macular degeneration of retina
 primary_id: MESH:D008268;   RDO:0003580
 xref: NCI:C123330;   ORDO:279
For additional species annotation, visit the Alliance of Genome Resources.


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macular degeneration term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abca4 ATP binding cassette subfamily A member 4 JBrowse link 2 225,645,539 225,783,288 RGD:1598551
RGD:8554872
RGD:11554173
G Adipor1 adiponectin receptor 1 JBrowse link 13 51,240,470 51,260,233 RGD:8694465
G Apoe apolipoprotein E JBrowse link 1 80,612,894 80,616,820 RGD:1331525
RGD:11554173
RGD:7775015
RGD:7771587
RGD:7771552
RGD:7495761
G Atf6 activating transcription factor 6 JBrowse link 13 89,053,457 89,242,531 RGD:8554872
G Bad BCL2-associated agonist of cell death JBrowse link 1 222,198,516 222,207,459 RGD:10053644
G Bax BCL2 associated X, apoptosis regulator JBrowse link 1 101,451,801 101,457,207 RGD:10043353
G Best1 bestrophin 1 JBrowse link 1 226,033,146 226,049,893 RGD:1599738
RGD:8554872
G Bmp4 bone morphogenetic protein 4 JBrowse link 15 20,776,060 20,791,013 RGD:8699495
G C1qtnf5 C1q and TNF related 5 JBrowse link 8 48,443,515 48,445,639 RGD:11554173
G C2 complement C2 JBrowse link 20 4,542,340 4,561,152 RGD:1600582
RGD:8554872
RGD:11554173
RGD:7411731
RGD:7411720
RGD:7411713
RGD:7411691
RGD:7411694
RGD:7411693
RGD:7411692
G C3 complement C3 JBrowse link 9 9,721,137 9,747,084 RGD:7401268
RGD:7411723
RGD:8554872
RGD:11554173
RGD:7411715
G C9 complement C9 JBrowse link 2 55,775,562 55,823,807 RGD:11554173
G Cacna1f calcium voltage-gated channel subunit alpha1 F JBrowse link X 15,712,709 15,741,135 RGD:8554872
G Cacng3 calcium voltage-gated channel auxiliary subunit gamma 3 JBrowse link 1 192,613,766 192,708,371 RGD:13524556
G Ccl2 C-C motif chemokine ligand 2 JBrowse link 10 69,412,065 69,413,863 RGD:8548856
RGD:9491385
RGD:8661224
RGD:8549496
G Ccr2 C-C motif chemokine receptor 2 RGD:8657363
RGD:7794843
G Cd36 CD36 molecule JBrowse link 4 14,150,309 14,191,498 RGD:2307226
G Cdh3 cadherin 3 JBrowse link 19 38,668,957 38,719,801 RGD:8554872
G Cdkn1a cyclin-dependent kinase inhibitor 1A JBrowse link 20 6,348,422 6,358,864 RGD:10043353
G Cdkn1b cyclin-dependent kinase inhibitor 1B JBrowse link 4 168,689,043 168,694,159 RGD:10043353
G Cerkl ceramide kinase-like JBrowse link 3 66,268,835 66,395,615 RGD:8554872
G Cfb complement factor B JBrowse link 20 4,536,206 4,542,073 RGD:7411691
RGD:8554872
RGD:11554173
RGD:7411731
RGD:7411720
RGD:7411714
RGD:7411713
RGD:7411694
G Cfh complement factor H JBrowse link 13 56,979,155 57,080,540 RGD:5684552
RGD:8554872
RGD:11554173
RGD:7365036
RGD:7365035
RGD:7365034
RGD:7365033
RGD:7365022
RGD:7365021
RGD:7364999
RGD:7364995
G Cfi complement factor I JBrowse link 2 235,264,149 235,305,779 RGD:8662313
RGD:11554173
RGD:8662321
RGD:8662315
G Cnga1 cyclic nucleotide gated channel subunit alpha 1 JBrowse link 14 38,155,771 38,171,107 RGD:8554872
G Cnga3 cyclic nucleotide gated channel subunit alpha 3 JBrowse link 9 43,807,412 43,858,225 RGD:8554872
G Cngb3 cyclic nucleotide gated channel subunit beta 3 JBrowse link 5 33,097,353 33,507,467 RGD:8554872
G Col18a1 collagen type XVIII alpha 1 chain JBrowse link 20 12,225,202 12,332,858 RGD:8554872
G Crb1 crumbs cell polarity complex component 1 JBrowse link 13 56,270,519 56,462,893 RGD:8552788
RGD:8554872
G Crp C-reactive protein JBrowse link 13 91,080,448 91,081,358 RGD:9491758
RGD:9491760
G Crx cone-rod homeobox JBrowse link 1 77,744,593 77,758,913 RGD:8554872
G Cryab crystallin, alpha B JBrowse link 8 55,178,543 55,182,546 RGD:13503350
G Cx3cr1 C-X3-C motif chemokine receptor 1 JBrowse link 8 128,740,756 128,754,514 RGD:9479078
RGD:9491395
RGD:9491392
RGD:9491390
RGD:9491385
G Efemp1 EGF containing fibulin extracellular matrix protein 1 JBrowse link 14 113,202,382 113,294,993 RGD:10401788
RGD:10401794
RGD:10401789
G Eln elastin JBrowse link 12 24,978,478 25,021,864 RGD:9585737
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link 1 80,293,574 80,307,334 RGD:10401085
G Ercc6 ERCC excision repair 6, chromatin remodeling factor JBrowse link 16 8,734,028 8,804,610 RGD:10401096
RGD:8554872
RGD:11554173
G Esr1 estrogen receptor 1 JBrowse link 1 41,192,029 41,594,799 RGD:10045664
G Fas Fas cell surface death receptor JBrowse link 1 252,589,785 252,624,790 RGD:8662418
G Fbln5 fibulin 5 JBrowse link 6 125,644,797 125,723,957 RGD:8554872
G Flt1 FMS-related tyrosine kinase 1 JBrowse link 12 9,033,993 9,205,886 RGD:5684426
G Fscn2 fascin actin-bundling protein 2, retinal JBrowse link 10 109,528,307 109,540,675 RGD:8554872
G Gsr glutathione-disulfide reductase JBrowse link 16 62,197,617 62,239,987 RGD:10401825
G Gstm1 glutathione S-transferase mu 1 JBrowse link 2 210,803,869 210,809,461 RGD:7488954
RGD:12792247
G Gstm5 glutathione S-transferase, mu 5 JBrowse link 2 210,685,338 210,688,133 RGD:12792247
G Guca1a guanylate cyclase activator 1A JBrowse link 9 15,609,804 15,620,030 RGD:8554872
G Hic1 HIC ZBTB transcriptional repressor 1 JBrowse link 10 62,007,150 62,010,774 RGD:11554173
G Hmcn1 hemicentin 1 JBrowse link 13 67,799,791 68,360,664 RGD:8554872
G Hspa8 heat shock protein family A (Hsp70) member 8 JBrowse link 8 44,989,401 44,993,261 RGD:6478714
G Htra1 HtrA serine peptidase 1 JBrowse link 1 201,499,067 201,548,508 RGD:7394695
RGD:8554872
G Il17a interleukin 17A JBrowse link 9 26,841,299 26,844,786 RGD:9068445
RGD:9068453
G Impg1 interphotoreceptor matrix proteoglycan 1 JBrowse link 8 87,733,374 87,879,958 RGD:8554872
G Impg2 interphotoreceptor matrix proteoglycan 2 JBrowse link 11 46,615,091 46,693,565 RGD:8554872
G Kdr kinase insert domain receptor JBrowse link 14 34,727,677 34,787,127 RGD:5684426
RGD:8549717
G Mbd2 methyl-CpG binding domain protein 2 JBrowse link 18 65,814,026 65,885,115 RGD:9588663
G Mir23a microRNA 23a JBrowse link 19 25,318,582 25,318,656 RGD:10053591
G Mmp2 matrix metallopeptidase 2 JBrowse link 19 15,542,771 15,570,589 RGD:8657039
RGD:8657041
G Mmp9 matrix metallopeptidase 9 JBrowse link 3 161,413,410 161,421,473 RGD:7829793
RGD:10053644
G Mt-nd4 mitochondrially encoded NADH dehydrogenase 4 JBrowse link MT 10,160 11,537 RGD:5508704
G Nfe2l2 nuclear factor, erythroid 2-like 2 JBrowse link 3 62,497,568 62,525,146 RGD:10412682
RGD:7771558
G Nmnat1 nicotinamide nucleotide adenylyltransferase 1 JBrowse link 5 166,409,460 166,430,291 RGD:11554173
G Nqo1 NAD(P)H quinone dehydrogenase 1 JBrowse link 19 38,422,210 38,437,103 RGD:7771558
G Parp12 poly (ADP-ribose) polymerase family, member 12 JBrowse link 4 66,835,647 66,900,324 RGD:11554173
G Pde6b phosphodiesterase 6B JBrowse link 14 2,328,690 2,371,913 RGD:8554872
G Pon1 paraoxonase 1 JBrowse link 4 30,249,749 30,276,297 RGD:8547549
RGD:8547659
RGD:8547582
RGD:8547561
RGD:8547551
G Ppargc1a PPARG coactivator 1 alpha JBrowse link 14 63,095,291 63,190,688 RGD:7241840
G Prom1 prominin 1 JBrowse link 14 71,532,321 71,637,400 RGD:8554872
G Prph2 peripherin 2 JBrowse link 9 16,085,933 16,386,176 RGD:8553205
RGD:8554872
RGD:8553231
G Rlbp1 retinaldehyde binding protein 1 JBrowse link 1 141,097,789 141,111,375 RGD:11554173
G Rom1 retinal outer segment membrane protein 1 JBrowse link 1 225,126,732 225,128,740 RGD:8554872
G Rpgr retinitis pigmentosa GTPase regulator JBrowse link X 14,271,012 14,331,745 RGD:11554173
RGD:8554872
G Serpine1 serpin family E member 1 JBrowse link 12 22,641,104 22,651,482 RGD:8547755
G Serpinf1 serpin family F member 1 JBrowse link 10 62,241,750 62,254,145 RGD:8554867
RGD:8655542
G Serping1 serpin family G member 1 JBrowse link 3 72,161,230 72,171,109 RGD:8661263
RGD:8661640
RGD:8661639
RGD:8661638
RGD:8661264
G Sirt1 sirtuin 1 JBrowse link 20 26,831,971 26,851,587 RGD:9585773
G Slc16a8 solute carrier family 16 member 8 JBrowse link 7 120,486,266 120,490,192 RGD:11554173
G Slc19a1 solute carrier family 19 member 1 JBrowse link 20 12,334,675 12,354,517 RGD:8554872
G Sod1 superoxide dismutase 1 JBrowse link 11 30,363,282 30,368,858 RGD:1581207
RGD:8655651
G Sod2 superoxide dismutase 2 JBrowse link 1 47,914,757 47,921,587 RGD:8158047
G Sqstm1 sequestosome 1 JBrowse link 10 35,704,728 35,716,316 RGD:11554173
G Srsf10 serine and arginine rich splicing factor 10 JBrowse link 5 154,205,358 154,219,550 RGD:11038792
G Timp3 TIMP metallopeptidase inhibitor 3 JBrowse link 7 23,543,125 23,594,170 RGD:11554173
G Tlr4 toll-like receptor 4 JBrowse link 5 82,587,424 82,601,056 RGD:7794837
RGD:11554173
RGD:7794843
RGD:7794842
G Tnfrsf10b tumor necrosis factor receptor superfamily, member 10b JBrowse link 15 51,433,853 51,464,215 RGD:11554173
G Tra2b transformer 2 beta homolog JBrowse link 11 82,373,828 82,392,208 RGD:11038792
G Ttc8 tetratricopeptide repeat domain 8 JBrowse link 6 122,920,308 122,974,525 RGD:8554872
G Ush2a usherin JBrowse link 13 106,750,738 107,434,195 RGD:8554872
G Vegfa vascular endothelial growth factor A JBrowse link 9 17,340,341 17,355,681 RGD:11554173
age related macular degeneration term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abca4 ATP binding cassette subfamily A member 4 JBrowse link 2 225,645,539 225,783,288 RGD:8554872
G Ccl2 C-C motif chemokine ligand 2 JBrowse link 10 69,412,065 69,413,863 RGD:13592920
G Ccr2 C-C motif chemokine receptor 2 RGD:13592920
G Cd46 CD46 molecule JBrowse link 13 113,786,525 113,818,741 RGD:13592920
G Cfhr1 complement factor H-related 1 JBrowse link 13 56,862,666 56,877,650 RGD:8554872
G Mdm1 Mdm1 nuclear protein JBrowse link 7 61,165,652 61,200,865 RGD:13592920
G RGD1564614 similar to complement factor H-related protein JBrowse link 13 56,889,669 56,958,549 RGD:8554872
age related macular degeneration 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Apoe apolipoprotein E JBrowse link 1 80,612,894 80,616,820 RGD:7240710
RGD:8554872
G Cfhr1 complement factor H-related 1 JBrowse link 13 56,862,666 56,877,650 RGD:7240710
G Cryba1 crystallin, beta A1 JBrowse link 10 65,160,777 65,167,504 RGD:13592920
G Hmcn1 hemicentin 1 JBrowse link 13 67,799,791 68,360,664 RGD:7240710
RGD:8554872
G RGD1564614 similar to complement factor H-related protein JBrowse link 13 56,889,669 56,958,549 RGD:7240710
RGD:8554872
G Vldlr very low density lipoprotein receptor JBrowse link 1 245,236,819 245,273,688 RGD:13592920
age related macular degeneration 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tlr4 toll-like receptor 4 JBrowse link 5 82,587,424 82,601,056 RGD:7240710
age related macular degeneration 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cst3 cystatin C JBrowse link 3 143,219,671 143,223,544 RGD:7240710
RGD:8554872
age related macular degeneration 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cx3cr1 C-X3-C motif chemokine receptor 1 JBrowse link 8 128,740,756 128,754,514 RGD:7240710
age related macular degeneration 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cfi complement factor I JBrowse link 2 235,264,149 235,305,779 RGD:8554872
RGD:11554173
RGD:7240710
age related macular degeneration 14 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C2 complement C2 JBrowse link 20 4,542,340 4,561,152 RGD:7240710
RGD:8554872
G Cfb complement factor B JBrowse link 20 4,536,206 4,542,073 RGD:7240710
RGD:8554872
age related macular degeneration 15 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C9 complement C9 JBrowse link 2 55,775,562 55,823,807 RGD:8554872
RGD:11554173
RGD:7240710
age related macular degeneration 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abca4 ATP binding cassette subfamily A member 4 JBrowse link 2 225,645,539 225,783,288 RGD:7240710
RGD:8554872
Age Related Macular Degeneration 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fbln5 fibulin 5 JBrowse link 6 125,644,797 125,723,957 RGD:7240710
RGD:8554872
age related macular degeneration 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cfh complement factor H JBrowse link 13 56,979,155 57,080,540 RGD:7240710
RGD:8554872
age related macular degeneration 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ercc6 ERCC excision repair 6, chromatin remodeling factor JBrowse link 16 8,734,028 8,804,610 RGD:8554872
RGD:11554173
RGD:7240710
age related macular degeneration 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C3 complement C3 JBrowse link 9 9,721,137 9,747,084 RGD:7401252
G Cfb complement factor B JBrowse link 20 4,536,206 4,542,073 RGD:7401252
G Htra1 HtrA serine peptidase 1 JBrowse link 1 201,499,067 201,548,508 RGD:7240710
RGD:8554872
RGD:7394722
RGD:7394721
RGD:7394719
RGD:7394713
RGD:7387295
age related macular degeneration 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C3 complement C3 JBrowse link 9 9,721,137 9,747,084 RGD:7240710
RGD:8554872
basal laminar drusen term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cfh complement factor H JBrowse link 13 56,979,155 57,080,540 RGD:7240710
RGD:8554872
bestrophinopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Best1 bestrophin 1 JBrowse link 1 226,033,146 226,049,893 RGD:7240710
RGD:8554872
G Crb1 crumbs cell polarity complex component 1 JBrowse link 13 56,270,519 56,462,893 RGD:8554872
congenital hypotrichosis with juvenile macular dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdh3 cadherin 3 JBrowse link 19 38,668,957 38,719,801 RGD:7240710
RGD:8554872
Doyne honeycomb retinal dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Efemp1 EGF containing fibulin extracellular matrix protein 1 JBrowse link 14 113,202,382 113,294,993 RGD:1598888
RGD:8554872
RGD:10401794
RGD:10401791
RGD:7240710
Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdh3 cadherin 3 JBrowse link 19 38,668,957 38,719,801 RGD:7240710
RGD:8554872
Geographic Atrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccl2 C-C motif chemokine ligand 2 JBrowse link 10 69,412,065 69,413,863 RGD:8661224
G Ccr2 C-C motif chemokine receptor 2 RGD:8661224
G Htra1 HtrA serine peptidase 1 JBrowse link 1 201,499,067 201,548,508 RGD:7394693
Kuhnt-Junius degeneration term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Anxa5 annexin A5 JBrowse link 2 123,162,477 123,194,730 RGD:6478714
G Apoe apolipoprotein E JBrowse link 1 80,612,894 80,616,820 RGD:7495762
RGD:7775015
G C3 complement C3 JBrowse link 9 9,721,137 9,747,084 RGD:7401249
G Ccl2 C-C motif chemokine ligand 2 JBrowse link 10 69,412,065 69,413,863 RGD:8548855
G Ccr2 C-C motif chemokine receptor 2 RGD:8661669
G Cfi complement factor I JBrowse link 2 235,264,149 235,305,779 RGD:8662315
G Crp C-reactive protein JBrowse link 13 91,080,448 91,081,358 RGD:9491756
RGD:9491775
G Eln elastin JBrowse link 12 24,978,478 25,021,864 RGD:7387224
RGD:9585729
G Fgd6 FYVE, RhoGEF and PH domain containing 6 JBrowse link 7 34,951,878 35,063,006 RGD:11554173
G Flt1 FMS-related tyrosine kinase 1 JBrowse link 12 9,033,993 9,205,886 RGD:10402108
RGD:10402118
RGD:10402116
G Gstm1 glutathione S-transferase mu 1 JBrowse link 2 210,803,869 210,809,461 RGD:12792224
G Gstp1 glutathione S-transferase pi 1 JBrowse link 1 219,291,679 219,294,147 RGD:8547932
RGD:12792224
G Gstt1 glutathione S-transferase theta 1 JBrowse link 20 13,799,102 13,816,527 RGD:12792224
G Htra1 HtrA serine peptidase 1 JBrowse link 1 201,499,067 201,548,508 RGD:7387322
RGD:7394724
G Igf1 insulin-like growth factor 1 JBrowse link 7 28,412,123 28,491,815 RGD:10045867
RGD:10045893
G Igf1r insulin-like growth factor 1 receptor JBrowse link 1 128,924,921 129,213,816 RGD:10045893
G Igfbp2 insulin-like growth factor binding protein 2 JBrowse link 9 80,118,029 80,144,804 RGD:10045867
G Il6 interleukin 6 JBrowse link 4 3,043,231 3,047,807 RGD:7829793
G Kdr kinase insert domain receptor JBrowse link 14 34,727,677 34,787,127 RGD:8549752
G Loxl1 lysyl oxidase-like 1 JBrowse link 8 63,067,757 63,092,124 RGD:7387334
G Mapk8 mitogen-activated protein kinase 8 JBrowse link 16 9,620,854 9,709,342 RGD:10412675
G Mdm1 Mdm1 nuclear protein JBrowse link 7 61,165,652 61,200,865 RGD:10412062
G Mthfr methylenetetrahydrofolate reductase JBrowse link 5 164,844,642 164,864,360 RGD:7387224
G Nos3 nitric oxide synthase 3 JBrowse link 4 7,321,908 7,342,404 RGD:7771558
G Pdgfb platelet derived growth factor subunit B JBrowse link 7 121,215,458 121,233,092 RGD:10449444
G Pdgfrb platelet derived growth factor receptor beta JBrowse link 18 56,364,586 56,406,381 RGD:10053644
G Pon1 paraoxonase 1 JBrowse link 4 30,249,749 30,276,297 RGD:8547556
RGD:8547668
G Sod2 superoxide dismutase 2 JBrowse link 1 47,914,757 47,921,587 RGD:8158102
G Tlr2 toll-like receptor 2 JBrowse link 2 182,840,171 182,846,061 RGD:8552827
G Tlr3 toll-like receptor 3 JBrowse link 16 50,016,466 50,031,011 RGD:8552827
G Vegfa vascular endothelial growth factor A JBrowse link 9 17,340,341 17,355,681 RGD:7483607
RGD:7483627
Macular Degeneration, Early-Onset term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fbn2 fibrillin 2 JBrowse link 18 53,068,495 53,272,254 RGD:7240710
RGD:8554872
Macular Degeneration, X-Linked Atrophic term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rpgr retinitis pigmentosa GTPase regulator JBrowse link X 14,271,012 14,331,745 RGD:7240710
RGD:8554872
MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mfsd8 major facilitator superfamily domain containing 8 JBrowse link 2 127,706,618 127,784,129 RGD:7240710
RGD:8554872
Macular Dystrophy, Concentric Annular term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abca4 ATP binding cassette subfamily A member 4 JBrowse link 2 225,645,539 225,783,288 RGD:7829711
RGD:8554872
G Best1 bestrophin 1 JBrowse link 1 226,033,146 226,049,893 RGD:8554872
G Crx cone-rod homeobox JBrowse link 1 77,744,593 77,758,913 RGD:8554872
macular retinal edema term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Apoh apolipoprotein H JBrowse link 10 96,640,013 96,653,939 RGD:2315548
G Ccl2 C-C motif chemokine ligand 2 JBrowse link 10 69,412,065 69,413,863 RGD:2306981
RGD:7829760
G Clu clusterin JBrowse link 15 42,626,612 42,665,858 RGD:9068396
G Epo erythropoietin JBrowse link 12 22,274,828 22,278,268 RGD:10400883
G Fgf2 fibroblast growth factor 2 JBrowse link 2 124,081,072 124,134,133 RGD:8655594
G Flt1 FMS-related tyrosine kinase 1 JBrowse link 12 9,033,993 9,205,886 RGD:10402117
G Il6 interleukin 6 JBrowse link 4 3,043,231 3,047,807 RGD:7829760
G Kdr kinase insert domain receptor JBrowse link 14 34,727,677 34,787,127 RGD:8549772
G Ndp norrin cystine knot growth factor NDP JBrowse link X 6,791,090 6,815,586 RGD:11554173
G Nos3 nitric oxide synthase 3 JBrowse link 4 7,321,908 7,342,404 RGD:7775044
G Serpinf1 serpin family F member 1 JBrowse link 10 62,241,750 62,254,145 RGD:8554903
RGD:8655546
G Vegfa vascular endothelial growth factor A JBrowse link 9 17,340,341 17,355,681 RGD:8549772
RGD:11554173
RGD:8655594
occult macular dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rp1l1 RP1 like 1 JBrowse link 15 47,344,380 47,384,461 RGD:7240710
RGD:8554872
patterned macular dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ctnna1 catenin alpha 1 JBrowse link 18 27,923,229 28,055,972 RGD:11554173
G Htra1 HtrA serine peptidase 1 JBrowse link 1 201,499,067 201,548,508 RGD:7394745
G Mapkapk3 MAPK activated protein kinase 3 JBrowse link 8 116,012,126 116,046,012 RGD:11554173
G Prph2 peripherin 2 JBrowse link 9 16,085,933 16,386,176 RGD:8553221
RGD:8554872
RGD:11554173
RGD:8554864
RGD:8553238
RGD:8553236
patterned macular dystrophy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prph2 peripherin 2 JBrowse link 9 16,085,933 16,386,176 RGD:7240710
patterned macular dystrophy 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ctnna1 catenin alpha 1 JBrowse link 18 27,923,229 28,055,972 RGD:8554872
RGD:7240710
patterned macular dystrophy 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mapkapk3 MAPK activated protein kinase 3 JBrowse link 8 116,012,126 116,046,012 RGD:8554872
RGD:7240710
preretinal fibrosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Timp1 TIMP metallopeptidase inhibitor 1 JBrowse link X 1,364,771 1,369,451 RGD:2312481
G Timp2 TIMP metallopeptidase inhibitor 2 JBrowse link 10 107,338,465 107,386,072 RGD:2312481
G Timp3 TIMP metallopeptidase inhibitor 3 JBrowse link 7 23,543,125 23,594,170 RGD:2312481
retinal drusen term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cfh complement factor H JBrowse link 13 56,979,155 57,080,540 RGD:7365005
RGD:7365010
Sorsby's fundus dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Syn3 synapsin III JBrowse link 7 23,403,896 23,808,602 RGD:8554872
G Timp3 TIMP metallopeptidase inhibitor 3 JBrowse link 7 23,543,125 23,594,170 RGD:7240710
RGD:8554872
Stargardt disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abca4 ATP binding cassette subfamily A member 4 JBrowse link 2 225,645,539 225,783,288 RGD:8554872
RGD:13592920
G Best1 bestrophin 1 JBrowse link 1 226,033,146 226,049,893 RGD:8554872
G Cngb3 cyclic nucleotide gated channel subunit beta 3 JBrowse link 5 33,097,353 33,507,467 RGD:13592920
RGD:8554872
G Crb1 crumbs cell polarity complex component 1 JBrowse link 13 56,270,519 56,462,893 RGD:8554872
G Crx cone-rod homeobox JBrowse link 1 77,744,593 77,758,913 RGD:8554872
G Elovl4 ELOVL fatty acid elongase 4 JBrowse link 8 91,310,690 91,338,625 RGD:13592920
G Flvcr1 FLVCR heme transporter 1 JBrowse link 13 109,624,167 109,629,609 RGD:8554872
G Kcnv2 potassium voltage-gated channel modifier subfamily V member 2 JBrowse link 1 245,396,880 245,475,011 RGD:8554872
G Mfsd8 major facilitator superfamily domain containing 8 JBrowse link 2 127,706,618 127,784,129 RGD:8554872
G Prom1 prominin 1 JBrowse link 14 71,532,321 71,637,400 RGD:13592920
RGD:8554872
G Prph2 peripherin 2 JBrowse link 9 16,085,933 16,386,176 RGD:8554872
G Snrnp200 small nuclear ribonucleoprotein U5 subunit 200 JBrowse link 3 119,640,324 119,669,651 RGD:8554872
Stargardt Disease 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abca4 ATP binding cassette subfamily A member 4 JBrowse link 2 225,645,539 225,783,288 RGD:7240710
RGD:8554872
RGD:7829716
RGD:7815046
RGD:7815045
G Cngb3 cyclic nucleotide gated channel subunit beta 3 JBrowse link 5 33,097,353 33,507,467 RGD:7240710
RGD:8554872
G Kcnv2 potassium voltage-gated channel modifier subfamily V member 2 JBrowse link 1 245,396,880 245,475,011 RGD:8554872
G Mfsd8 major facilitator superfamily domain containing 8 JBrowse link 2 127,706,618 127,784,129 RGD:8554872
G Prom1 prominin 1 JBrowse link 14 71,532,321 71,637,400 RGD:8554872
Stargardt Disease 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Elovl4 ELOVL fatty acid elongase 4 JBrowse link 8 91,310,690 91,338,625 RGD:7240710
RGD:8554872
G Fgfr1 Fibroblast growth factor receptor 1 JBrowse link 16 71,265,390 71,319,046 RGD:10402074
Stargardt Disease 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Elovl4 ELOVL fatty acid elongase 4 JBrowse link 8 91,310,690 91,338,625 RGD:8554872
G Prom1 prominin 1 JBrowse link 14 71,532,321 71,637,400 RGD:7240710
RGD:8554872
Subretinal Fibrosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Il6 interleukin 6 JBrowse link 4 3,043,231 3,047,807 RGD:10402815
G Il6r interleukin 6 receptor JBrowse link 2 189,196,180 189,255,987 RGD:10402815
vitelliform macular dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Best1 bestrophin 1 JBrowse link 1 226,033,146 226,049,893 RGD:8554872
RGD:11554173
G Htra1 HtrA serine peptidase 1 JBrowse link 1 201,499,067 201,548,508 RGD:7394745
G Impg1 interphotoreceptor matrix proteoglycan 1 JBrowse link 8 87,733,374 87,879,958 RGD:11554173
G Impg2 interphotoreceptor matrix proteoglycan 2 JBrowse link 11 46,615,091 46,693,565 RGD:11554173
G Prph2 peripherin 2 JBrowse link 9 16,085,933 16,386,176 RGD:8553221
RGD:8554872
RGD:11554173
RGD:8554859
RGD:8553239
Vitelliform Macular Dystrophy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myh9 myosin, heavy chain 9 JBrowse link 7 118,740,005 118,792,507 RGD:8554872
Vitelliform Macular Dystrophy 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Best1 bestrophin 1 JBrowse link 1 226,033,146 226,049,893 RGD:8554872
RGD:7240710
G Fth1 ferritin heavy chain 1 JBrowse link 1 226,030,940 226,033,228 RGD:8554872
G Prph2 peripherin 2 JBrowse link 9 16,085,933 16,386,176 RGD:8554872
Vitelliform Macular Dystrophy 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Best1 bestrophin 1 JBrowse link 1 226,033,146 226,049,893 RGD:8554872
G Prph2 peripherin 2 JBrowse link 9 16,085,933 16,386,176 RGD:7240710
RGD:8554872
Vitelliform Macular Dystrophy 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Impg1 interphotoreceptor matrix proteoglycan 1 JBrowse link 8 87,733,374 87,879,958 RGD:8554872
RGD:7240710
Vitelliform Macular Dystrophy 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Impg2 interphotoreceptor matrix proteoglycan 2 JBrowse link 11 46,615,091 46,693,565 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 0
    Diseases of the Aged 1172
      macular degeneration 137
        Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy 1
        Geographic Atrophy 3
        Kuhnt-Junius degeneration + 32
        MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT 1
        Macular Degeneration, Early-Onset 1
        Macular Dystrophy, Concentric Annular 3
        Macular Dystrophy, Retinal, 3 0
        Macular Dystrophy, X-Linked + 1
        Myoclonic Epilepsy, Congenital Deafness, Macular Dystrophy, and Psychiatric Disorders 0
        Sorsby's fundus dystrophy 2
        Stargardt Macular Degeneration Absent or Hypoplastic Corpus Callosum Mental Retardation and Dysmorphic Features 0
        Stargardt disease + 13
        bestrophinopathy 2
        congenital hypotrichosis with juvenile macular dystrophy 1
        degeneration of macula and posterior pole + 64
        macular retinal edema + 12
        occult macular dystrophy 1
        patterned macular dystrophy + 4
        vitelliform macular dystrophy + 7
Path 2
Term Annotations click to browse term
  disease 15639
    disease of anatomical entity 14969
      nervous system disease 10242
        sensory system disease 4697
          eye and adnexa disease 2257
            eye disease 2257
              retinal disease 715
                retinal degeneration 406
                  macular degeneration 137
                    Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy 1
                    Geographic Atrophy 3
                    Kuhnt-Junius degeneration + 32
                    MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT 1
                    Macular Degeneration, Early-Onset 1
                    Macular Dystrophy, Concentric Annular 3
                    Macular Dystrophy, Retinal, 3 0
                    Macular Dystrophy, X-Linked + 1
                    Myoclonic Epilepsy, Congenital Deafness, Macular Dystrophy, and Psychiatric Disorders 0
                    Sorsby's fundus dystrophy 2
                    Stargardt Macular Degeneration Absent or Hypoplastic Corpus Callosum Mental Retardation and Dysmorphic Features 0
                    Stargardt disease + 13
                    bestrophinopathy 2
                    congenital hypotrichosis with juvenile macular dystrophy 1
                    degeneration of macula and posterior pole + 64
                    macular retinal edema + 12
                    occult macular dystrophy 1
                    patterned macular dystrophy + 4
                    vitelliform macular dystrophy + 7
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.