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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 1 95,386,263 95,514,589 RGD:9068941
G ADIPOR1 adiponectin receptor 1 JBrowse link 1 182,837,589 182,854,749 RGD:9068941
G APOE apolipoprotein E JBrowse link 19 50,459,906 50,463,490 RGD:9068941
G ARMS2 age-related maculopathy susceptibility 2 JBrowse link 10 122,434,800 122,437,551 RGD:9068941
G ATF6 activating transcription factor 6 JBrowse link 1 140,977,750 141,181,837 RGD:9068941
G BAD BCL2 associated agonist of cell death JBrowse link 11 62,971,808 62,986,304 RGD:9068941
G BAX BCL2 associated X, apoptosis regulator JBrowse link 19 54,793,594 54,800,466 RGD:9068941
G BEST1 bestrophin 1 JBrowse link 11 60,672,835 60,687,417 RGD:9068941
G BMP4 bone morphogenetic protein 4 JBrowse link 14 52,821,872 52,828,781 RGD:9068941
G C1QTNF5 C1q and TNF related 5 JBrowse link 11 118,107,317 118,108,798 RGD:9068941
G C2 complement C2 JBrowse link 6 32,476,791 32,492,982 RGD:9068941
G C3 complement C3 JBrowse link 19 6,629,240 6,674,786 RGD:9068941
G C9 complement C9 JBrowse link 5 76,051,911 76,130,725 RGD:9068941
G CACNA1F calcium voltage-gated channel subunit alpha1 F JBrowse link X 49,356,994 49,385,678 RGD:9068941
G CACNG3 calcium voltage-gated channel auxiliary subunit gamma 3 JBrowse link 16 24,501,881 24,608,921 RGD:9068941
G CCL2 C-C motif chemokine ligand 2 JBrowse link 17 22,821,336 22,823,271 RGD:9068941
G CCR2 C-C motif chemokine receptor 2 JBrowse link 3 47,361,118 47,368,312 RGD:9068941
G CD36 CD36 molecule JBrowse link 7 86,228,856 86,305,865 RGD:9068941
G CDH3 cadherin 3 JBrowse link 16 68,408,078 68,465,287 RGD:9068941
G CDKN1A cyclin dependent kinase inhibitor 1A JBrowse link 6 37,436,963 37,445,599 RGD:9068941
G CDKN1B cyclin dependent kinase inhibitor 1B JBrowse link 12 13,120,306 13,125,541 RGD:9068941
G CERKL ceramide kinase like JBrowse link 2B 186,611,147 186,731,484 RGD:9068941
G CFB complement factor B JBrowse link 6 32,492,982 32,499,396 RGD:9068941
G CFH complement factor H JBrowse link 1 176,434,107 176,507,049 RGD:9068941
G CFI complement factor I JBrowse link 4 112,804,645 112,865,581 RGD:9068941
G CNGA1 cyclic nucleotide gated channel subunit alpha 1 JBrowse link 4 84,865,999 84,945,692 RGD:9068941
G CNGA3 cyclic nucleotide gated channel subunit alpha 3 JBrowse link 2A 99,259,808 99,308,524 RGD:9068941
G CNGB3 cyclic nucleotide gated channel subunit beta 3 JBrowse link 8 85,238,043 85,407,023 RGD:9068941
G COL18A1 collagen type XVIII alpha 1 chain JBrowse link 21 45,046,791 45,106,225 RGD:9068941
G CRB1 crumbs cell polarity complex component 1 JBrowse link 1 177,174,431 177,389,289 RGD:9068941
G CRP C-reactive protein JBrowse link 1 138,858,353 138,860,652 RGD:9068941
G CRX cone-rod homeobox JBrowse link 19 53,451,064 53,485,267 RGD:9068941
G CRYAB crystallin alpha B JBrowse link 11 110,639,442 110,644,245 RGD:9068941
G CX3CR1 C-X3-C motif chemokine receptor 1 JBrowse link 3 39,439,009 39,456,797 RGD:9068941
G EFEMP1 EGF containing fibulin extracellular matrix protein 1 JBrowse link 2A 57,155,000 57,212,500 RGD:9068941
G ELN elastin JBrowse link 7 81,177,699 81,218,306 RGD:9068941
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link 19 50,897,004 50,915,849 RGD:9068941
G ERCC6 ERCC excision repair 6, chromatin remodeling factor RGD:9068941
G ESR1 estrogen receptor 1 JBrowse link 6 154,200,521 154,635,806 RGD:9068941
G EYS eyes shut homolog JBrowse link 6 66,676,633 67,251,757 RGD:9068941
G FAS Fas cell surface death receptor JBrowse link 10 89,199,070 89,244,884 RGD:9068941
G FBLN5 fibulin 5 JBrowse link 14 91,848,430 91,927,470 RGD:9068941
G FLT1 fms related receptor tyrosine kinase 1 JBrowse link 13 27,926,256 28,120,493 RGD:9068941
G FSCN2 fascin actin-bundling protein 2, retinal JBrowse link 17 81,687,051 81,694,823 RGD:9068941
G GPHN gephyrin JBrowse link 14 65,963,473 66,634,550 RGD:9068941
G GSR glutathione-disulfide reductase JBrowse link 8 27,180,294 27,229,557 RGD:9068941
G GSTM1 glutathione S-transferase mu 1 JBrowse link 1 128,003,736 128,009,696 RGD:9068941
G GSTM3 glutathione S-transferase mu 3 JBrowse link 1 127,956,485 127,960,583 RGD:9068941
G GUCA1A guanylate cyclase activator 1A JBrowse link 6 43,045,278 43,069,312 RGD:9068941
G HIC1 HIC ZBTB transcriptional repressor 1 JBrowse link 17 1,935,628 1,937,474 RGD:9068941
G HMCN1 hemicentin 1 JBrowse link 1 165,407,909 165,870,219 RGD:9068941
G HSPA8 heat shock protein family A (Hsp70) member 8 JBrowse link 11 121,809,800 121,814,628 RGD:9068941
G HTRA1 HtrA serine peptidase 1 JBrowse link 10 122,437,914 122,495,281 RGD:9068941
G IL17A interleukin 17A JBrowse link 6 53,004,820 53,009,074 RGD:9068941
G IMPG1 interphotoreceptor matrix proteoglycan 1 JBrowse link 6 77,054,893 77,180,578 RGD:9068941
G IMPG2 interphotoreceptor matrix proteoglycan 2 JBrowse link 3 105,005,029 105,098,122 RGD:9068941
G KDR kinase insert domain receptor JBrowse link 4 75,377,847 75,424,927 RGD:9068941
G MBD2 methyl-CpG binding domain protein 2 JBrowse link 18 50,876,490 50,946,077 RGD:9068941
G MMP2 matrix metallopeptidase 2 JBrowse link 16 54,817,228 54,844,279 RGD:9068941
G MMP9 matrix metallopeptidase 9 JBrowse link 20 43,432,389 43,440,129 RGD:9068941
G NFE2L2 nuclear factor, erythroid 2 like 2 JBrowse link 2B 182,214,116 182,248,282 RGD:9068941
G NMNAT1 nicotinamide nucleotide adenylyltransferase 1 JBrowse link 1 9,942,491 9,982,369 RGD:9068941
G NQO1 NAD(P)H quinone dehydrogenase 1 JBrowse link 16 69,472,529 69,489,731 RGD:9068941
G PARP12 poly(ADP-ribose) polymerase family member 12 JBrowse link 7 144,442,973 144,477,073 RGD:9068941
G PDE6B phosphodiesterase 6B JBrowse link 4 646,516 701,680 RGD:9068941
G PON1 paraoxonase 1 JBrowse link 7 100,841,286 100,867,493 RGD:9068941
G PPARGC1A PPARG coactivator 1 alpha JBrowse link 4 23,483,377 24,160,574 RGD:9068941
G PROM1 prominin 1 JBrowse link 4 15,702,155 15,816,070 RGD:9068941
G PRPH2 peripherin 2 JBrowse link 6 43,582,317 43,608,011 RGD:9068941
G RAX2 retina and anterior neural fold homeobox 2 JBrowse link 19 3,741,735 3,744,203 RGD:9068941
G RDH12 retinol dehydrogenase 12 JBrowse link 14 67,180,696 67,192,345 RGD:9068941
G RLBP1 retinaldehyde binding protein 1 JBrowse link 15 87,108,815 87,117,971 RGD:9068941
G ROM1 retinal outer segment membrane protein 1 JBrowse link 11 61,324,900 61,327,278 RGD:9068941
G RPGR retinitis pigmentosa GTPase regulator JBrowse link X 38,426,895 38,485,140 RGD:9068941
G SERPINE1 serpin family E member 1 JBrowse link 7 106,511,539 106,518,605 RGD:9068941
G SERPINF1 serpin family F member 1 JBrowse link 17 1,638,479 1,653,568 RGD:9068941
G SERPING1 serpin family G member 1 JBrowse link 11 56,309,685 56,326,639 RGD:9068941
G SIRT1 sirtuin 1 JBrowse link 10 66,681,983 66,714,065 RGD:9068941
G SLC16A8 solute carrier family 16 member 8 JBrowse link 22 36,816,866 36,821,606 RGD:9068941
G SLC19A1 solute carrier family 19 member 1 JBrowse link 21 45,108,537 45,155,049 RGD:9068941
G SOD1 superoxide dismutase 1 JBrowse link 21 31,411,702 31,419,432 RGD:9068941
G SOD2 superoxide dismutase 2 JBrowse link 6 162,576,082 162,589,960 RGD:9068941
G SQSTM1 sequestosome 1 JBrowse link 5 182,271,070 182,299,093 RGD:9068941
G SRSF10 serine and arginine rich splicing factor 10 JBrowse link 1 24,149,423 24,165,057 RGD:9068941
G TIMP3 TIMP metallopeptidase inhibitor 3 JBrowse link 22 31,662,567 31,721,500 RGD:9068941
G TLR4 toll like receptor 4 JBrowse link 9 117,180,250 117,193,510 RGD:9068941
G TNFRSF10A TNF receptor superfamily member 10a JBrowse link 8 19,378,547 19,414,724 RGD:9068941
G TRA2B transformer 2 beta homolog JBrowse link 3 191,414,777 191,436,103 RGD:9068941
G TTC8 tetratricopeptide repeat domain 8 JBrowse link 14 88,802,812 88,857,055 RGD:9068941
G USH2A usherin JBrowse link 1 196,048,086 196,850,216 RGD:9068941
G VEGFA vascular endothelial growth factor A JBrowse link 6 44,651,855 44,666,353 RGD:9068941
G ZFYVE26 zinc finger FYVE-type containing 26 JBrowse link 14 67,204,320 67,274,206 RGD:9068941
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 1 95,386,263 95,514,589 RGD:9068941
G CCL2 C-C motif chemokine ligand 2 JBrowse link 17 22,821,336 22,823,271 RGD:9068941
G CCR2 C-C motif chemokine receptor 2 JBrowse link 3 47,361,118 47,368,312 RGD:9068941
G CD46 CD46 molecule JBrowse link 1 188,138,616 188,182,046 RGD:9068941
G HTRA1 HtrA serine peptidase 1 JBrowse link 10 122,437,914 122,495,281 RGD:9068941
G MDM1 Mdm1 nuclear protein JBrowse link 12 68,588,541 68,626,359 RGD:9068941
G PPARGC1A PPARG coactivator 1 alpha JBrowse link 4 23,483,377 24,160,574 RGD:9068941
age related macular degeneration 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G APOE apolipoprotein E JBrowse link 19 50,459,906 50,463,490 RGD:7240710
RGD:9068941
G CRYBA1 crystallin beta A1 JBrowse link 17 28,032,799 28,040,525 RGD:9068941
G HMCN1 hemicentin 1 JBrowse link 1 165,407,909 165,870,219 RGD:7240710
RGD:9068941
G VLDLR very low density lipoprotein receptor JBrowse link 9 2,621,325 2,653,980 RGD:9068941
age related macular degeneration 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TLR4 toll like receptor 4 JBrowse link 9 117,180,250 117,193,510 RGD:7240710
RGD:9068941
age related macular degeneration 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CST3 cystatin C JBrowse link 20 23,935,942 23,940,420 RGD:7240710
RGD:9068941
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 3 39,439,009 39,456,797 RGD:7240710
RGD:9068941
age related macular degeneration 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CFI complement factor I JBrowse link 4 112,804,645 112,865,581 RGD:9068941
RGD:7240710
age related macular degeneration 14 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C2 complement C2 JBrowse link 6 32,476,791 32,492,982 RGD:7240710
RGD:9068941
G CFB complement factor B JBrowse link 6 32,492,982 32,499,396 RGD:7240710
RGD:9068941
age related macular degeneration 15 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C9 complement C9 JBrowse link 5 76,051,911 76,130,725 RGD:9068941
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 1 95,386,263 95,514,589 RGD:7240710
RGD:9068941
Age Related Macular Degeneration 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FBLN5 fibulin 5 JBrowse link 14 91,848,430 91,927,470 RGD:7240710
RGD:9068941
age related macular degeneration 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CFH complement factor H JBrowse link 1 176,434,107 176,507,049 RGD:7240710
RGD:9068941
age related macular degeneration 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ERCC6 ERCC excision repair 6, chromatin remodeling factor RGD:9068941
RGD:7240710
age related macular degeneration 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RAX2 retina and anterior neural fold homeobox 2 JBrowse link 19 3,741,735 3,744,203 RGD:7240710
RGD:9068941
age related macular degeneration 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C3 complement C3 JBrowse link 19 6,629,240 6,674,786 RGD:9068941
G CFB complement factor B JBrowse link 6 32,492,982 32,499,396 RGD:9068941
G HTRA1 HtrA serine peptidase 1 JBrowse link 10 122,437,914 122,495,281 RGD:7240710
RGD:9068941
age related macular degeneration 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ARMS2 age-related maculopathy susceptibility 2 JBrowse link 10 122,434,800 122,437,551 RGD:9068941
RGD:7240710
age related macular degeneration 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C3 complement C3 JBrowse link 19 6,629,240 6,674,786 RGD:7240710
RGD:9068941
basal laminar drusen term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CFH complement factor H JBrowse link 1 176,434,107 176,507,049 RGD:7240710
RGD:9068941
bestrophinopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BEST1 bestrophin 1 JBrowse link 11 60,672,835 60,687,417 RGD:7240710
RGD:9068941
G CRB1 crumbs cell polarity complex component 1 JBrowse link 1 177,174,431 177,389,289 RGD:9068941
Concentric Annular Macular Dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ABCA4 ATP binding cassette subfamily A member 4 JBrowse link 1 95,386,263 95,514,589 RGD:9068941
G BEST1 bestrophin 1 JBrowse link 11 60,672,835 60,687,417 RGD:9068941
G CRX cone-rod homeobox JBrowse link 19 53,451,064 53,485,267 RGD:9068941
congenital hypotrichosis with juvenile macular dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CDH3 cadherin 3 JBrowse link 16 68,408,078 68,465,287 RGD:7240710
RGD:9068941
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 2A 57,155,000 57,212,500 RGD:7240710
RGD:9068941
ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CDH3 cadherin 3 JBrowse link 16 68,408,078 68,465,287 RGD:7240710
RGD:9068941
Geographic Atrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CCL2 C-C motif chemokine ligand 2 JBrowse link 17 22,821,336 22,823,271 RGD:9068941
G CCR2 C-C motif chemokine receptor 2 JBrowse link 3 47,361,118 47,368,312 RGD:9068941
G HTRA1 HtrA serine peptidase 1 JBrowse link 10 122,437,914 122,495,281 RGD:9068941
Kuhnt-Junius degeneration term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ANXA5 annexin A5 JBrowse link 4 125,006,038 125,034,972 RGD:9068941
G APOE apolipoprotein E JBrowse link 19 50,459,906 50,463,490 RGD:9068941
G C3 complement C3 JBrowse link 19 6,629,240 6,674,786 RGD:9068941
G CCL2 C-C motif chemokine ligand 2 JBrowse link 17 22,821,336 22,823,271 RGD:9068941
G CCR2 C-C motif chemokine receptor 2 JBrowse link 3 47,361,118 47,368,312 RGD:9068941
G CFI complement factor I JBrowse link 4 112,804,645 112,865,581 RGD:9068941
G CRP C-reactive protein JBrowse link 1 138,858,353 138,860,652 RGD:9068941
G ELN elastin JBrowse link 7 81,177,699 81,218,306 RGD:9068941
G FGD6 FYVE, RhoGEF and PH domain containing 6 JBrowse link 12 96,065,059 96,203,335 RGD:9068941
G FLT1 fms related receptor tyrosine kinase 1 JBrowse link 13 27,926,256 28,120,493 RGD:9068941
G GSTM1 glutathione S-transferase mu 1 JBrowse link 1 128,003,736 128,009,696 RGD:9068941
G GSTP1 glutathione S-transferase pi 1 JBrowse link 11 66,253,421 66,256,472 RGD:9068941
G HTRA1 HtrA serine peptidase 1 JBrowse link 10 122,437,914 122,495,281 RGD:9068941
G IGF1 insulin like growth factor 1 JBrowse link 12 103,385,911 103,463,264 RGD:9068941
G IGF1R insulin like growth factor 1 receptor JBrowse link 15 96,576,930 96,832,974 RGD:9068941
G IGFBP2 insulin like growth factor binding protein 2 JBrowse link 2B 222,498,392 222,527,302 RGD:9068941
G IL6 interleukin 6 JBrowse link 7 23,027,560 23,032,419 RGD:9068941
G KDR kinase insert domain receptor JBrowse link 4 75,377,847 75,424,927 RGD:9068941
G MAPK8 mitogen-activated protein kinase 8 RGD:9068941
G MDM1 Mdm1 nuclear protein JBrowse link 12 68,588,541 68,626,359 RGD:9068941
G MTHFR methylenetetrahydrofolate reductase JBrowse link 1 11,766,334 11,785,645 RGD:9068941
G NOS3 nitric oxide synthase 3 JBrowse link 7 154,730,009 154,755,233 RGD:9068941
G PDGFB platelet derived growth factor subunit B JBrowse link 22 37,944,018 37,964,883 RGD:9068941
G PDGFRB platelet derived growth factor receptor beta JBrowse link 5 151,543,581 151,585,630 RGD:9068941
G PON1 paraoxonase 1 JBrowse link 7 100,841,286 100,867,493 RGD:9068941
G SOD2 superoxide dismutase 2 JBrowse link 6 162,576,082 162,589,960 RGD:9068941
G TLR2 toll like receptor 2 JBrowse link 4 157,848,058 157,870,324 RGD:9068941
G TLR3 toll like receptor 3 JBrowse link 4 190,446,487 190,462,728 RGD:9068941
G VEGFA vascular endothelial growth factor A JBrowse link 6 44,651,855 44,666,353 RGD:9068941
Macular Degeneration, Early-Onset term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FBN2 fibrillin 2 JBrowse link 5 129,435,248 129,715,699 RGD:7240710
RGD:9068941
Macular Degeneration, X-Linked Atrophic term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RPGR retinitis pigmentosa GTPase regulator JBrowse link X 38,426,895 38,485,140 RGD:7240710
RGD:9068941
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 4 131,391,361 131,439,590 RGD:7240710
RGD:9068941
macular retinal edema term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G APOH apolipoprotein H JBrowse link 17 65,365,250 65,382,483 RGD:9068941
G CCL2 C-C motif chemokine ligand 2 JBrowse link 17 22,821,336 22,823,271 RGD:9068941
G CLU clusterin JBrowse link 8 24,070,053 24,086,934 RGD:9068941
G EPO erythropoietin JBrowse link 7 106,148,062 106,150,974 RGD:9068941
G FGF2 fibroblast growth factor 2 JBrowse link 4 126,149,750 126,220,774 RGD:9068941
G FLT1 fms related receptor tyrosine kinase 1 JBrowse link 13 27,926,256 28,120,493 RGD:9068941
G IL6 interleukin 6 JBrowse link 7 23,027,560 23,032,419 RGD:9068941
G KDR kinase insert domain receptor JBrowse link 4 75,377,847 75,424,927 RGD:9068941
G NDP norrin cystine knot growth factor NDP JBrowse link X 44,224,161 44,249,067 RGD:9068941
G NOS3 nitric oxide synthase 3 JBrowse link 7 154,730,009 154,755,233 RGD:9068941
G SERPINF1 serpin family F member 1 JBrowse link 17 1,638,479 1,653,568 RGD:9068941
G VEGFA vascular endothelial growth factor A JBrowse link 6 44,651,855 44,666,353 RGD:9068941
occult macular dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RP1L1 RP1 like 1 RGD:7240710
RGD:9068941
patterned macular dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CTNNA1 catenin alpha 1 JBrowse link 5 140,261,883 140,438,854 RGD:9068941
G HTRA1 HtrA serine peptidase 1 JBrowse link 10 122,437,914 122,495,281 RGD:9068941
G MAPKAPK3 MAPK activated protein kinase 3 JBrowse link 3 51,779,906 51,812,124 RGD:9068941
G PRPH2 peripherin 2 JBrowse link 6 43,582,317 43,608,011 RGD:9068941
patterned macular dystrophy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PRPH2 peripherin 2 JBrowse link 6 43,582,317 43,608,011 RGD:9068941
RGD:7240710
patterned macular dystrophy 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CTNNA1 catenin alpha 1 JBrowse link 5 140,261,883 140,438,854 RGD:9068941
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 3 51,779,906 51,812,124 RGD:9068941
RGD:7240710
preretinal fibrosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TIMP1 TIMP metallopeptidase inhibitor 1 JBrowse link X 47,914,906 47,919,419 RGD:9068941
G TIMP2 TIMP metallopeptidase inhibitor 2 JBrowse link 17 78,476,807 78,495,885 RGD:9068941
G TIMP3 TIMP metallopeptidase inhibitor 3 JBrowse link 22 31,662,567 31,721,500 RGD:9068941
retinal drusen term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CFH complement factor H JBrowse link 1 176,434,107 176,507,049 RGD:9068941
Sorsby's fundus dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SYN3 synapsin III JBrowse link 22 31,373,466 31,920,997 RGD:9068941
G TIMP3 TIMP metallopeptidase inhibitor 3 JBrowse link 22 31,662,567 31,721,500 RGD:7240710
RGD:9068941
Stargardt disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ABCA4 ATP binding cassette subfamily A member 4 JBrowse link 1 95,386,263 95,514,589 RGD:9068941
G BEST1 bestrophin 1 JBrowse link 11 60,672,835 60,687,417 RGD:9068941
G BRCA2 BRCA2 DNA repair associated JBrowse link 13 32,009,039 32,092,463 RGD:9068941
G CNGB3 cyclic nucleotide gated channel subunit beta 3 JBrowse link 8 85,238,043 85,407,023 RGD:9068941
G COL2A1 collagen type II alpha 1 chain JBrowse link 12 41,600,206 41,631,789 RGD:9068941
G CRB1 crumbs cell polarity complex component 1 JBrowse link 1 177,174,431 177,389,289 RGD:9068941
G CRX cone-rod homeobox JBrowse link 19 53,451,064 53,485,267 RGD:9068941
G ELOVL4 ELOVL fatty acid elongase 4 JBrowse link 6 81,068,876 81,101,644 RGD:9068941
G EYS eyes shut homolog JBrowse link 6 66,676,633 67,251,757 RGD:9068941
G FLVCR1 FLVCR heme transporter 1 JBrowse link 1 193,284,158 193,321,962 RGD:9068941
G KCNV2 potassium voltage-gated channel modifier subfamily V member 2 JBrowse link 9 2,717,407 2,729,494 RGD:9068941
G PROM1 prominin 1 JBrowse link 4 15,702,155 15,816,070 RGD:9068941
G PRPH2 peripherin 2 JBrowse link 6 43,582,317 43,608,011 RGD:9068941
G SNRNP200 small nuclear ribonucleoprotein U5 subunit 200 JBrowse link 2A 97,197,137 97,228,511 RGD:9068941
Stargardt Disease 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ABCA4 ATP binding cassette subfamily A member 4 JBrowse link 1 95,386,263 95,514,589 RGD:7240710
RGD:9068941
G BRCA2 BRCA2 DNA repair associated JBrowse link 13 32,009,039 32,092,463 RGD:9068941
G CNGB3 cyclic nucleotide gated channel subunit beta 3 JBrowse link 8 85,238,043 85,407,023 RGD:7240710
RGD:9068941
G KCNV2 potassium voltage-gated channel modifier subfamily V member 2 JBrowse link 9 2,717,407 2,729,494 RGD:9068941
G MFSD8 major facilitator superfamily domain containing 8 JBrowse link 4 131,391,361 131,439,590 RGD:9068941
G PROM1 prominin 1 JBrowse link 4 15,702,155 15,816,070 RGD:9068941
Stargardt Disease 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ELOVL4 ELOVL fatty acid elongase 4 JBrowse link 6 81,068,876 81,101,644 RGD:7240710
RGD:9068941
G FGFR1 fibroblast growth factor receptor 1 JBrowse link 8 34,890,147 34,948,904 RGD:9068941
Stargardt Disease 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ELOVL4 ELOVL fatty acid elongase 4 JBrowse link 6 81,068,876 81,101,644 RGD:9068941
G PROM1 prominin 1 JBrowse link 4 15,702,155 15,816,070 RGD:7240710
RGD:9068941
Subretinal Fibrosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G IL6 interleukin 6 JBrowse link 7 23,027,560 23,032,419 RGD:9068941
G IL6R interleukin 6 receptor JBrowse link 1 133,374,078 133,433,089 RGD:9068941
vitelliform macular dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BEST1 bestrophin 1 JBrowse link 11 60,672,835 60,687,417 RGD:9068941
G HTRA1 HtrA serine peptidase 1 JBrowse link 10 122,437,914 122,495,281 RGD:9068941
G IMPG1 interphotoreceptor matrix proteoglycan 1 JBrowse link 6 77,054,893 77,180,578 RGD:9068941
G IMPG2 interphotoreceptor matrix proteoglycan 2 JBrowse link 3 105,005,029 105,098,122 RGD:9068941
G PRPH2 peripherin 2 JBrowse link 6 43,582,317 43,608,011 RGD:9068941
Vitelliform Macular Dystrophy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MYH9 myosin heavy chain 9 JBrowse link 22 35,039,461 35,121,618 RGD:9068941
Vitelliform Macular Dystrophy 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BEST1 bestrophin 1 JBrowse link 11 60,672,835 60,687,417 RGD:9068941
RGD:7240710
G FTH1 ferritin heavy chain 1 JBrowse link 11 60,687,517 60,690,080 RGD:9068941
G PRPH2 peripherin 2 JBrowse link 6 43,582,317 43,608,011 RGD:9068941
Vitelliform Macular Dystrophy 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BEST1 bestrophin 1 JBrowse link 11 60,672,835 60,687,417 RGD:9068941
G PRPH2 peripherin 2 JBrowse link 6 43,582,317 43,608,011 RGD:7240710
RGD:9068941
Vitelliform Macular Dystrophy 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G IMPG1 interphotoreceptor matrix proteoglycan 1 JBrowse link 6 77,054,893 77,180,578 RGD:7240710
RGD:9068941
Vitelliform Macular Dystrophy 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G IMPG2 interphotoreceptor matrix proteoglycan 2 JBrowse link 3 105,005,029 105,098,122 RGD:7240710
RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12060
    Diseases of the Aged 928
      macular degeneration 134
        Concentric Annular Macular Dystrophy 3
        Geographic Atrophy 3
        Kuhnt-Junius degeneration + 30
        Macular Degeneration, Early-Onset 1
        Macular Dystrophy with Central Cone Involvement 1
        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
        bestrophinopathy 2
        congenital hypotrichosis with juvenile macular dystrophy 1
        degeneration of macula and posterior pole + 66
        ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome 1
        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 12060
    disease of anatomical entity 11720
      nervous system disease 9465
        sensory system disease 4380
          eye disease 2194
            eye degenerative disease 390
              retinal degeneration 388
                macular degeneration 134
                  Concentric Annular Macular Dystrophy 3
                  Geographic Atrophy 3
                  Kuhnt-Junius degeneration + 30
                  Macular Degeneration, Early-Onset 1
                  Macular Dystrophy with Central Cone Involvement 1
                  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
                  bestrophinopathy 2
                  congenital hypotrichosis with juvenile macular dystrophy 1
                  degeneration of macula and posterior pole + 66
                  ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome 1
                  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.