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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:macular degeneration
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Accession:DOID:4448 term browser browse the term
Definition:A retinal degeneration characterized by gradual deterioration of light-sensing cells in the tissues at the back of the eye and has_symptom vision loss. (DO)
Synonyms:exact_synonym: MACULAR DYSTROPHY WITH OR WITHOUT CONE DYSFUNCTION;   macular degeneration of retina;   macular degenerations;   macular dystrophies;   macular dystrophy
 narrow_synonym: inherited macular dystrophy;   myopic macular degeneration
 primary_id: MESH:D008268
 xref: EFO:0001365;   EFO:0009201;   EFO:0009606;   EFO:0020937;   MIM:620762;   NCI:C123330;   ORDO:279
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
macular degeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP-binding cassette, sub-family A member 4 susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Macular degeneration | ClinVar Annotator: match by term: Macular dystrophy		 CTD
ClinVar
RGD		 PMID:9054934 PMID:9295268 PMID:9466990 PMID:9536098 PMID:9781034 More... RGD:1598551 NCBI chr 3:121,837,547...121,973,719
Ensembl chr 3:121,838,092...121,973,772 		JBrowse link
G Adipor1 adiponectin receptor 1 ISO DNA:SNP:intron:c.-95+191A>G (rs10753929) (human) RGD PMID:22387454 RGD:8694465 NCBI chr 1:134,343,116...134,361,089
Ensembl chr 1:134,343,116...134,361,089 		JBrowse link
G Apoe apolipoprotein E susceptibility
no_association		 ISO CTD Direct Evidence: marker/mechanism
DNA:haplotype:cds:
DNA:polymorphism:exon:		 CTD
RGD		 PMID:16453339 PMID:15118671 PMID:16079201 PMID:19384966 PMID:10859513 More... RGD:1331525, RGD:7775015, RGD:7771587, RGD:7771552, RGD:7495761 NCBI chr 7:19,430,169...19,434,326
Ensembl chr 7:19,430,034...19,433,113 		JBrowse link
G Atf6 activating transcription factor 6 ISO ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:28041643 NCBI chr 1:170,532,026...170,696,414
Ensembl chr 1:170,532,243...170,695,340 		JBrowse link
G Bad BCL2-associated agonist of cell death severity ISO protein:increased expression:vitreous humor RGD PMID:22773904 RGD:10053644 NCBI chr19:6,919,229...6,929,273
Ensembl chr19:6,919,229...6,929,267 		JBrowse link
G Bax BCL2-associated X protein ISO RGD PMID:20054800 RGD:10043353 NCBI chr 7:45,111,124...45,116,332
Ensembl chr 7:45,111,121...45,116,322 		JBrowse link
G Bbs10 Bardet-Biedl syndrome 10 ISO ClinVar Annotator: match by term: Macular degeneration ClinVar PMID:16582908 PMID:20080638 PMID:20120035 PMID:20177705 PMID:20472660 More... NCBI chr10:111,134,540...111,137,597
Ensembl chr10:111,134,540...111,137,588 		JBrowse link
G Best1 bestrophin 1 ISO Best macular dystrophy, OMIM:153700
ClinVar Annotator: match by term: Macular dystrophy		 ClinVar
RGD		 PMID:10394929 PMID:10798642 PMID:11241846 PMID:12565808 PMID:20381869 More... RGD:1599738 NCBI chr19:9,962,536...9,978,997
Ensembl chr19:9,962,538...9,978,997 		JBrowse link
G Bmp4 bone morphogenetic protein 4 ISO protein:increased expression:bruch's membrane,pigmented layer of retina: RGD PMID:19158083 RGD:8699495 NCBI chr14:46,620,982...46,628,126
Ensembl chr14:46,620,977...46,628,126 		JBrowse link
G C1qtnf5 C1q and tumor necrosis factor related protein 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16123441 NCBI chr 9:44,013,067...44,020,484
Ensembl chr 9:44,018,542...44,020,484 		JBrowse link
G C2 complement C2 susceptibility
no_association		 ISO DNA:polymorphism
ClinVar Annotator: match by term: Macular degeneration
CTD Direct Evidence: marker/mechanism
DNA:missense mutation, snp:cds, intron:p.E318D, c.1360+62G>T (rs9332739, rs547154) (human)
DNA:missense mutation, haplotype:cds:p.E318D (rs9332739) (human)
DNA:SNP, haplotype:intron:c.1360+62G>T (rs547154) (human)
DNA:missense mutation:cds:p.E318D (rs9332739) (human)
DNA:SNP:intron:c.1360+62G>T (rs547154) (human)
DNA:missense mutation, SNP:cds, intron:p.E318D, c.1360+62G>T (rs9332739, rs547154) (human)		 ClinVar
CTD
RGD		 PMID:1577763 PMID:2249879 PMID:6308626 PMID:8181962 PMID:9536098 More... RGD:1600582, RGD:7411731, RGD:7411720, RGD:7411713, RGD:7411691, RGD:7411694, RGD:7411693, RGD:7411692 NCBI chr17:35,081,578...35,101,076
Ensembl chr17:35,081,580...35,117,241 		JBrowse link
G C3 complement component 3 IMP
ISO		 ClinVar Annotator: match by term: Macular degeneration
DNA:polymorphism: :p.R102G (human)
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.R102G (rs2230199) (human)		 ClinVar
CTD
RGD		 PMID:17767156 PMID:24036949 PMID:24036950 PMID:24036952 PMID:25741868 More... RGD:7401268, RGD:7411723, RGD:7411715 NCBI chr17:57,510,967...57,535,136
Ensembl chr17:57,510,970...57,535,136 		JBrowse link
G C9 complement component 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24036952 NCBI chr15:6,474,827...6,528,306
Ensembl chr15:6,474,808...6,528,232 		JBrowse link
G Cacna1f calcium channel, voltage-dependent, alpha 1F subunit ISO ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:9536098 PMID:17576681 PMID:28492532 PMID:30718709 NCBI chr  X:7,473,342...7,501,435
Ensembl chr  X:7,473,322...7,501,435 		JBrowse link
G Cacng3 calcium channel, voltage-dependent, gamma subunit 3 susceptibility ISO DNA:SNPs: : RGD PMID:21169531 RGD:13524556 NCBI chr 7:122,270,967...122,368,616
Ensembl chr 7:122,269,715...122,368,616 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 severity IMP
IGI
IEP
ISO		 mRNA,protein:increased expression:retina
protein:increased expression:aqueous humor (human)		 RGD PMID:14566334 PMID:17652758 PMID:24142887 PMID:24142887 PMID:22172228 RGD:8548856, RGD:9491385, RGD:8661224, RGD:8661224, RGD:8549496 NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279 		JBrowse link
G Ccr2 C-C motif chemokine receptor 2 no_association ISO protein:increased expression:plasma: RGD PMID:16857270 PMID:18172114 RGD:8657363, RGD:7794843 NCBI chr 9:123,901,954...123,913,594
Ensembl chr 9:123,901,987...123,913,594 		JBrowse link
G Cd36 CD36 molecule IAGP RGD PMID:18288886 RGD:2307226 NCBI chr 5:17,986,680...18,093,828
Ensembl chr 5:17,986,688...18,093,799 		JBrowse link
G Cdh3 cadherin 3 ISO ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:10420194 PMID:14708629 PMID:15805154 PMID:25741868 PMID:27386845 More... NCBI chr 8:107,237,484...107,283,543
Ensembl chr 8:107,237,523...107,283,929 		JBrowse link
G Cdkn1a cyclin dependent kinase inhibitor 1A ISO RGD PMID:20054800 RGD:10043353 NCBI chr17:29,309,953...29,319,696
Ensembl chr17:29,309,950...29,319,701 		JBrowse link
G Cdkn1b cyclin dependent kinase inhibitor 1B ISO RGD PMID:20054800 RGD:10043353 NCBI chr 6:134,897,364...134,902,488
Ensembl chr 6:134,897,364...134,902,476 		JBrowse link
G Cerkl ceramide kinase-like ISO ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:25741868 NCBI chr 2:79,162,835...79,259,332
Ensembl chr 2:79,160,887...79,287,129 		JBrowse link
G Cfb complement factor B no_association
susceptibility		 ISO DNA:missense mutation:cds:p.R32Q (rs641153) (human)
ClinVar Annotator: match by term: Macular degeneration | ClinVar Annotator: match by term: Macular dystrophy
CTD Direct Evidence: marker/mechanism
DNA:missense mutations:cds:p.L9H, p.R32Q (rs4151667, rs641153) (human)
DNA:missense mutation, haplotype:cds:p.L9H (rs4151667) (human)
DNA:missense mutation, SNP:cds, intron:p.R32L, c.*500T>C (rs641153, rs2072633) (human)
DNA:SNPs: :multiple
DNA:snp:intron:c.1169-69T>C (rs541862) (human)		 ClinVar
CTD
RGD		 PMID:1577763 PMID:2249879 PMID:6308626 PMID:8181962 PMID:9616367 More... RGD:7411691, RGD:7411731, RGD:7411720, RGD:7411714, RGD:7411713, RGD:7411713, RGD:7411694 NCBI chr17:35,075,350...35,081,492
Ensembl chr17:35,075,350...35,081,494 		JBrowse link
G Cfh complement component factor h susceptibility
no_association
disease_progression		 ISO ClinVar Annotator: match by term: Macular degeneration
CTD Direct Evidence: marker/mechanism
DNA:SNP:cds:p.Y402H(human)
DNA:SNP: :rs1061170 (Y402H)(human)
DNA:SNP: :rs800292(human)
DNA:SNP: :rs1061170(human)
DNA:SNP: :rs1410996(human)
DNA:SNPs,Haplotype::		 ClinVar
CTD
RGD		 PMID:16518403 PMID:16754848 PMID:17554167 PMID:21909106 PMID:22019782 More... RGD:5684552, RGD:7365036, RGD:7365035, RGD:7365034, RGD:7365033, RGD:7365022, RGD:7365021, RGD:7364999, RGD:7364995 NCBI chr 1:140,013,593...140,111,149
Ensembl chr 1:140,012,446...140,111,502 		JBrowse link
G Cfi complement component factor i disease_progression
no_association		 ISO DNA:missense mutation:cds:p.G119R (human)
CTD Direct Evidence: marker/mechanism
DNA:SNP:intron:g.110659067T>C (rs10033900) (human)
DNA:SNP:cds:c.345G>A (rs2285714) (human)		 CTD
RGD		 PMID:23685748 PMID:24036952 PMID:26691988 PMID:23685748 PMID:22815349 More... RGD:8662313, RGD:8662321, RGD:8662315 NCBI chr 3:129,630,432...129,668,978
Ensembl chr 3:129,629,533...129,668,981 		JBrowse link
G Cnga1 cyclic nucleotide gated channel alpha 1 ISO ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:7479749 PMID:24033266 PMID:24265693 PMID:25326637 PMID:25741868 More... NCBI chr 5:72,761,039...72,800,095
Ensembl chr 5:72,761,039...72,801,618 		JBrowse link
G Cnga3 cyclic nucleotide gated channel alpha 3 ISO ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:11536077 PMID:17693388 PMID:18445228 PMID:23972307 PMID:24033266 More... NCBI chr 1:37,257,317...37,302,465
Ensembl chr 1:37,253,515...37,302,465 		JBrowse link
G Cngb3 cyclic nucleotide gated channel beta 3 ISO ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:9536098 PMID:17576681 PMID:28041643 PMID:28492532 PMID:28795510 NCBI chr 4:19,280,850...19,510,623
Ensembl chr 4:19,280,850...19,510,623 		JBrowse link
G Col18a1 collagen, type XVIII, alpha 1 ISO ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:12415512 PMID:19160445 PMID:19390655 PMID:20799329 PMID:21862674 More... NCBI chr10:76,888,013...77,002,351
Ensembl chr10:76,888,012...77,002,382 		JBrowse link
G Crb1 crumbs family member 1, photoreceptor morphogenesis associated IAGP
ISO		 DNA:frameshift mutation
ClinVar Annotator: match by term: Macular dystrophy		 ClinVar
RGD		 PMID:10508521 PMID:11389483 PMID:12700176 PMID:15024725 PMID:15459956 More... RGD:8552788 NCBI chr 1:139,101,288...139,307,262
Ensembl chr 1:139,124,794...139,304,838 		JBrowse link
G Crp C-reactive protein, pentraxin-related susceptibility ISO protein:increased expression:serum: RGD PMID:20346514 PMID:16225921 RGD:9491758, RGD:9491760 NCBI chr 1:172,525,623...172,527,533
Ensembl chr 1:172,525,622...172,660,598 		JBrowse link
G Crx cone-rod homeobox ISO ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:28041643 NCBI chr 7:15,599,872...15,613,880
Ensembl chr 7:15,599,872...15,613,893 		JBrowse link
G Cryab crystallin, alpha B treatment ISO RGD PMID:25483086 RGD:13503350 NCBI chr 9:50,657,251...50,667,936
Ensembl chr 9:50,662,625...50,667,936 		JBrowse link
G Cx3cr1 C-X3-C motif chemokine receptor 1 no_association ISO
IGI		 DNA:missense mutation:cds:p.T280M (human)
DNA:missense mutation:cds:p.V249I (human)
DNA:missense mutations:cds:p.V249I, p.T280M (rs3732379, rs3732378) (human)
DNA:missense mutations:cds:p.V249I, p.T280M (human)		 RGD PMID:15944936 PMID:22816662 PMID:22816662 PMID:25050486 PMID:15208270 More... RGD:9479078, RGD:9491395, RGD:9491395, RGD:9491392, RGD:9491390, RGD:9491385 NCBI chr 9:119,877,749...119,897,362
Ensembl chr 9:119,877,749...119,898,945 		JBrowse link
G Efemp1 epidermal growth factor-containing fibulin-like extracellular matrix protein 1 no_association IMP
ISO		 protein:altered expression: : RGD PMID:17666404 PMID:12242346 PMID:17872905 RGD:10401788, RGD:10401794, RGD:10401789 NCBI chr11:28,803,154...28,876,743
Ensembl chr11:28,803,204...28,876,743 		JBrowse link
G Eln elastin ISO protein:increased expression:serum: RGD PMID:16123400 RGD:9585737 NCBI chr 5:134,731,449...134,776,300
Ensembl chr 5:134,731,447...134,776,177 		JBrowse link
G Ercc2 excision repair cross-complementing rodent repair deficiency, complementation group 2 susceptibility ISO DNA:missense mutations, haplotype:cds:p.D312N, p.K751Q (human) RGD PMID:20375340 RGD:10401085 NCBI chr 7:19,115,942...19,129,619
Ensembl chr 7:19,115,935...19,129,619 		JBrowse link
G Ercc6 excision repair cross-complementing rodent repair deficiency, complementation group 6 onset ISO ClinVar Annotator: match by term: Macular degeneration
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:16754848 PMID:18414213 PMID:25741868 PMID:28492532 PMID:21072178 RGD:10401096 NCBI chr14:32,235,248...32,302,947
Ensembl chr14:32,235,478...32,302,947 		JBrowse link
G Esr1 estrogen receptor 1 (alpha) ISO DNA:snps, haplotype:intron:c.454-397T>C, c.454-351A>G (rs2234693, rs9340799) (human) RGD PMID:17325140 RGD:10045664 NCBI chr10:4,561,989...4,955,633
Ensembl chr10:4,561,593...4,955,614 		JBrowse link
G Fas Fas cell surface death receptor severity ISO protein:increased expression:choroid, epithelioid cell (human) RGD PMID:9488273 RGD:8662418 NCBI chr19:34,267,926...34,305,175
Ensembl chr19:34,268,066...34,305,172 		JBrowse link
G Fbln5 fibulin 5 ISO ClinVar Annotator: match by term: Macular degeneration ClinVar PMID:24033266 PMID:28492532 NCBI chr12:101,712,820...101,785,541
Ensembl chr12:101,712,824...101,785,314 		JBrowse link
G Flt1 FMS-like tyrosine kinase 1 IMP RGD PMID:21731737 RGD:5684426 NCBI chr 5:147,498,414...147,663,419
Ensembl chr 5:147,498,414...147,662,821 		JBrowse link
G Fscn2 fascin actin-bundling protein 2 ISO ClinVar Annotator: match by term: Macular degeneration ClinVar PMID:11527955 PMID:14609921 PMID:15994872 PMID:16280978 PMID:16799052 More... NCBI chr11:120,250,991...120,258,999
Ensembl chr11:120,252,360...120,258,994 		JBrowse link
G Gphn gephyrin ISO ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:16269441 PMID:17512964 PMID:19011012 PMID:21151602 PMID:22065924 More... NCBI chr12:78,264,099...78,731,546
Ensembl chr12:78,273,153...78,731,546 		JBrowse link
G Gsr glutathione reductase ISO protein:decreased expression:blood RGD PMID:7803358 RGD:10401825 NCBI chr 8:34,143,266...34,188,190
Ensembl chr 8:34,142,551...34,188,191 		JBrowse link
G Gstm1 glutathione S-transferase, mu 1 susceptibility ISO DNA:deletion:cds (human)
mRNA, protein:decreased expression:pigmented layer of retina (human)		 RGD PMID:21212706 PMID:22410570 RGD:7488954, RGD:12792247 NCBI chr 3:107,919,566...107,925,289
Ensembl chr 3:107,919,571...107,925,289 		JBrowse link
G Gstm5 glutathione S-transferase, mu 5 ISO mRNA, protein:decreased expression:pigmented layer of retina (human) RGD PMID:22410570 RGD:12792247 NCBI chr 3:107,803,240...107,806,002
Ensembl chr 3:107,803,137...107,806,002 		JBrowse link
G Guca1a guanylate cyclase activator 1a (retina) ISO ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:9425234 PMID:9651312 PMID:9702199 PMID:11146732 PMID:15953638 More... NCBI chr17:47,705,482...47,724,439
Ensembl chr17:47,705,483...47,711,509 		JBrowse link
G Gucy2e guanylate cyclase 2e ISO ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:10676808 PMID:11115851 PMID:11565546 PMID:12552567 PMID:24875811 More... NCBI chr11:69,108,943...69,128,083
Ensembl chr11:69,108,943...69,127,862 		JBrowse link
G Hic1 hypermethylated in cancer 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30742112 NCBI chr11:75,052,203...75,059,970
Ensembl chr11:75,055,391...75,060,345 		JBrowse link
G Hk1 hexokinase 1 ISO ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr10:62,104,634...62,215,699
Ensembl chr10:62,104,634...62,215,687 		JBrowse link
G Hmcn1 hemicentin 1 ISO ClinVar Annotator: match by term: Macular degeneration ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:150,438,251...150,869,568
Ensembl chr 1:150,438,275...150,869,186 		JBrowse link
G Hspa8 heat shock protein 8 ISO mRNA: increased expression: white blood cells RGD PMID:19684010 RGD:6478714 NCBI chr 9:40,712,572...40,716,498
Ensembl chr 9:40,712,280...40,721,383 		JBrowse link
G Htra1 HtrA serine peptidase 1 ISO ClinVar Annotator: match by term: Macular degeneration ClinVar PMID:18164066 PMID:18316707 PMID:20437615 PMID:25741868 PMID:26467025 More... NCBI chr 7:130,537,933...130,587,388
Ensembl chr 7:130,537,841...130,587,390 		JBrowse link
G Il17a interleukin 17A susceptibility ISO DNA:snps:promoter, 3' utr:c.-197G>A, c.*1249C>T (rs2275913, rs3748067) (human)
protein:increased expression: serum (human)		 RGD PMID:25028103 PMID:21762495 RGD:9068445, RGD:9068453 NCBI chr 1:20,801,129...20,804,720
Ensembl chr 1:20,801,129...20,804,720 		JBrowse link
G Impg1 interphotoreceptor matrix proteoglycan 1 ISO ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:28041643 PMID:28492532 PMID:32581362 NCBI chr 9:80,215,467...80,347,707
Ensembl chr 9:80,220,612...80,347,534 		JBrowse link
G Impg2 interphotoreceptor matrix proteoglycan 2 ISO ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:20673862 PMID:24876279 PMID:28492532 PMID:30718709 NCBI chr16:56,019,447...56,094,119
Ensembl chr16:56,024,676...56,094,119 		JBrowse link
G Kdr kinase insert domain protein receptor treatment IMP
ISO		 DNA:SNPs:: rs4576072,rs6828477(human) RGD PMID:21731737 PMID:24365177 RGD:5684426, RGD:8549717 NCBI chr 5:76,093,487...76,139,880
Ensembl chr 5:76,093,487...76,139,118 		JBrowse link
G Mbd2 methyl-CpG binding domain protein 2 IMP RGD PMID:24939308 RGD:9588663 NCBI chr18:70,701,298...70,761,769
Ensembl chr18:70,701,260...70,759,202 		JBrowse link
G Mir184 microRNA 184 ISO CTD Direct Evidence: therapeutic CTD PMID:35690295 NCBI chr 9:89,684,313...89,684,381
Ensembl chr 9:89,684,313...89,684,381 		JBrowse link
G Mir23a microRNA 23a ISO RNA:decreased expression:retinal pigment epithelial cell: RGD PMID:21693609 RGD:10053591 NCBI chr 8:84,935,147...84,935,221
Ensembl chr 8:84,935,147...84,935,221 		JBrowse link
G Mmp2 matrix metallopeptidase 2 susceptibility
no_association		 ISO DNA:silent mutation:cds:c.1380G>A (rs2287074) (human)
DNA:SNP:promoter:-1306C>T (rs243865) (human)		 RGD PMID:18359774 PMID:23536957 RGD:8657039, RGD:8657041 NCBI chr 8:93,553,920...93,580,049
Ensembl chr 8:93,553,919...93,580,048 		JBrowse link
G Mmp9 matrix metallopeptidase 9 severity ISO protein:increased expression:vitreous humor RGD PMID:22490043 PMID:22773904 RGD:7829793, RGD:10053644 NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770 		JBrowse link
G mt-Nd4 NADH dehydrogenase 4, mitochondrial ISO DNA:SNP, haplotype:cds:m.11812A>G (human) RGD PMID:19434233 RGD:5508704 NCBI chr MT:10,167...11,544
Ensembl chr MT:10,167...11,544 		JBrowse link
G Nfe2l2 nuclear factor, erythroid derived 2, like 2 IMP
ISO		 DNA:SNP, haplotype:intron:28312647A>G (rs6726395) (human) RGD PMID:21559389 PMID:23276910 RGD:10412682, RGD:7771558 NCBI chr 2:75,505,860...75,535,007
Ensembl chr 2:75,505,857...75,534,985 		JBrowse link
G Nmnat1 nicotinamide nucleotide adenylyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22842229 NCBI chr 4:149,552,026...149,569,667
Ensembl chr 4:149,552,029...149,569,659 		JBrowse link
G Nqo1 NAD(P)H dehydrogenase, quinone 1 ISO DNA:missense mutation, haplotype:cds:c.609C>T (rs1800566) (human) RGD PMID:23276910 RGD:7771558 NCBI chr 8:108,114,856...108,139,012
Ensembl chr 8:108,114,857...108,129,838 		JBrowse link
G Parp12 poly (ADP-ribose) polymerase family, member 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30742112 NCBI chr 6:39,063,346...39,095,283
Ensembl chr 6:39,063,344...39,095,283 		JBrowse link
G Pde6b phosphodiesterase 6B, cGMP, rod receptor, beta polypeptide ISO ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:25741868 NCBI chr 5:108,536,239...108,579,609
Ensembl chr 5:108,536,257...108,580,263 		JBrowse link
G Pon1 paraoxonase 1 susceptibility
no_association		 ISO DNA:missense mutations:cds:p.L55M, p.Q192R (human)
DNA:missense mutations:cds:p.L55M, p.Q192R (rs662, rs854560) (human)
protein:decreased activity:serum (human)
DNA:snps:promoter, 5' utr:multiple (human)		 RGD PMID:23538572 PMID:15774926 PMID:15488805 PMID:23432778 PMID:22956172 RGD:8547549, RGD:8547659, RGD:8547582, RGD:8547561, RGD:8547551 NCBI chr 6:5,168,101...5,193,824
Ensembl chr 6:5,168,090...5,193,946 		JBrowse link
G Ppargc1a peroxisome proliferative activated receptor, gamma, coactivator 1 alpha ISO DNA:snps:exon, 3' utr:g.76874A>G, g.*2381A>G (rs3736265, rs3774923) (human) RGD PMID:23335958 RGD:7241840 NCBI chr 5:51,611,591...52,273,316
Ensembl chr 5:51,611,592...51,725,068 		JBrowse link
G Prom1 prominin 1 ISO ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:9634506 PMID:10205271 PMID:12657606 PMID:12659814 PMID:15665353 More... NCBI chr 5:44,150,963...44,260,850
Ensembl chr 5:44,150,962...44,259,374 		JBrowse link
G Prph2 peripherin 2 ISO DNA:polymorphism:cds:p.R172W(human)
ClinVar Annotator: match by term: Macular degeneration | ClinVar Annotator: match by term: Macular dystrophy
DNA:deletion:cds:		 ClinVar
RGD		 PMID:279751 PMID:8111389 PMID:8302543 PMID:8485575 PMID:8485576 More... RGD:8553205, RGD:8553231 NCBI chr17:47,221,404...47,235,859
Ensembl chr17:47,221,385...47,235,859 		JBrowse link
G Rdh12 retinol dehydrogenase 12 ISO ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:16269441 PMID:17512964 PMID:19011012 PMID:21151602 PMID:22065924 More... NCBI chr12:79,255,687...79,269,438
Ensembl chr12:79,255,688...79,269,439 		JBrowse link
G Rlbp1 retinaldehyde binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30742112 NCBI chr 7:79,024,613...79,041,989
Ensembl chr 7:79,024,618...79,036,796 		JBrowse link
G Rom1 rod outer segment membrane protein 1 ISO ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:25741868 PMID:28492532 PMID:30718709 NCBI chr19:8,904,746...8,906,720
Ensembl chr19:8,904,755...8,906,720 		JBrowse link
G Rpgr retinitis pigmentosa GTPase regulator ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Macular dystrophy		 CTD
ClinVar		 PMID:12160730 PMID:25741868 PMID:28041643 NCBI chr  X:10,024,455...10,083,034
Ensembl chr  X:9,939,860...10,083,159 		JBrowse link
G Samd7 sterile alpha motif domain containing 7 ISO ClinVar Annotator: match by term: Macular dystrophy with or without cone dysfunction ClinVar
OMIM		 PMID:38272031 NCBI chr 3:30,800,481...30,821,323
Ensembl chr 3:30,800,442...30,821,323 		JBrowse link
G Serpine1 serine (or cysteine) peptidase inhibitor, clade E, member 1 ISO protein:increased expression:plasma (human) RGD PMID:17675241 RGD:8547755 NCBI chr 5:137,090,358...137,101,126
Ensembl chr 5:137,090,358...137,101,122 		JBrowse link
G Serpinf1 serine (or cysteine) peptidase inhibitor, clade F, member 1 ISO protein:decreased expression:optic choroid (human)
mRNA:altered expression:retina (rat)		 RGD PMID:16019000 PMID:21191149 RGD:8554867, RGD:8655542 NCBI chr11:75,300,855...75,313,449
Ensembl chr11:75,300,595...75,313,527 		JBrowse link
G Serping1 serine (or cysteine) peptidase inhibitor, clade G, member 1 no_association
susceptibility		 ISO DNA:SNP:intron:c.1029+312T>C (rs11603020) (human)
DNA:SNPs:introns:c.52-130C>T, c.1030-865C>T (rs1005510, rs2511989) (human)
DNA:SNP, haplotype:intron:c.1030-865C>T (rs2511989) (human)
DNA:SNPs: :multiple		 RGD PMID:21852020 PMID:20606025 PMID:20606025 PMID:21526158 PMID:20576771 More... RGD:8661263, RGD:8661640, RGD:8661640, RGD:8661639, RGD:8661638, RGD:8661264 NCBI chr 2:84,595,704...84,605,748
Ensembl chr 2:84,595,731...84,605,788 		JBrowse link
G Sirt1 sirtuin 1 ISO mRNA:decreased expression:retina RGD PMID:21890195 RGD:9585773 NCBI chr10:63,154,784...63,174,814
Ensembl chr10:63,154,784...63,217,483 		JBrowse link
G Slc16a8 solute carrier family 16 (monocarboxylic acid transporters), member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26691988 NCBI chr15:79,135,216...79,139,619
Ensembl chr15:79,135,214...79,138,961 		JBrowse link
G Slc19a1 solute carrier family 19 (folate transporter), member 1 ISO ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:12415512 PMID:19160445 PMID:19390655 PMID:20799329 PMID:21862674 More... NCBI chr10:76,868,103...76,886,266
Ensembl chr10:76,868,075...76,896,836 		JBrowse link
G Sod1 superoxide dismutase 1, soluble susceptibility IMP
ISO		 protein:increased expression:serum (human) RGD PMID:16844785 PMID:23848218 RGD:1581207, RGD:8655651 NCBI chr16:90,017,650...90,023,221
Ensembl chr16:90,017,642...90,023,217 		JBrowse link
G Sod2 superoxide dismutase 2, mitochondrial IMP RGD PMID:17898259 RGD:8158047 NCBI chr17:13,226,726...13,237,006
Ensembl chr17:13,225,733...13,258,950 		JBrowse link
G Sqstm1 sequestosome 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23922739 NCBI chr11:50,090,979...50,105,303
Ensembl chr11:50,090,193...50,101,654 		JBrowse link
G Srsf10 serine and arginine-rich splicing factor 10 ISO protein:increased expression:retina (human) RGD PMID:24098751 RGD:11038792 NCBI chr 4:135,582,454...135,597,219
Ensembl chr 4:135,583,058...135,597,219 		JBrowse link
G Thrb thyroid hormone receptor beta ISO ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:25741868 NCBI chr14:4,429,599...4,810,538
Ensembl chr14:4,431,611...4,809,435 		JBrowse link
G Timp3 tissue inhibitor of metalloproteinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26691988 NCBI chr10:86,136,276...86,185,369
Ensembl chr10:86,136,236...86,185,370 		JBrowse link
G Tlr4 toll-like receptor 4 susceptibility
no_association		 ISO DNA:polymorphism:exon:p.D299G(human)
CTD Direct Evidence: marker/mechanism
DNA:SNPs: :p.D299G,T399I(human)
DNA:SNP:: rs4986790(human)		 CTD
RGD		 PMID:15829498 PMID:15829498 PMID:18172114 PMID:19628747 RGD:7794837, RGD:7794843, RGD:7794842 NCBI chr 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521 		JBrowse link
G Tnfrsf10b tumor necrosis factor receptor superfamily, member 10b ISO CTD Direct Evidence: marker/mechanism CTD PMID:21909106 NCBI chr14:70,004,921...70,021,860
Ensembl chr14:70,004,921...70,021,860 		JBrowse link
G Tra2b transformer 2 beta ISO protein:increased expression:retina (human) RGD PMID:24098751 RGD:11038792 NCBI chr16:22,063,302...22,084,755
Ensembl chr16:22,063,299...22,084,755 		JBrowse link
G Ttc8 tetratricopeptide repeat domain 8 ISO ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:25097241 PMID:25741868 PMID:28492532 PMID:30718709 PMID:33964006 NCBI chr12:98,886,796...98,949,509
Ensembl chr12:98,886,833...98,949,497 		JBrowse link
G Unc119 unc-119 lipid binding chaperone ISO ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:26992781 PMID:35947183 NCBI chr11:78,234,321...78,239,990
Ensembl chr11:78,234,308...78,239,990 		JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Macular degeneration
ClinVar Annotator: match by term: Macular dystrophy		 ClinVar PMID:9624053 PMID:10090909 PMID:10729113 PMID:10909849 PMID:11402400 More... NCBI chr 1:187,995,035...188,697,694
Ensembl chr 1:187,994,220...188,697,238 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:15788408 NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295 		JBrowse link
G Vmn2r17 vomeronasal 2, receptor 17 ISO ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:20237254 PMID:21069908 PMID:23105016 PMID:25097241 PMID:25741868 More... NCBI chr 5:109,567,879...109,601,253
Ensembl chr 5:109,567,554...109,606,325 		JBrowse link
G Zfyve26 zinc finger, FYVE domain containing 26 ISO ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:16269441 PMID:17512964 PMID:19011012 PMID:21151602 PMID:23591405 More... NCBI chr12:79,279,120...79,343,102
Ensembl chr12:79,279,120...79,343,078 		JBrowse link
age related macular degeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP-binding cassette, sub-family A member 4 ISO ClinVar Annotator: match by term: Age-related macular degeneration | ClinVar Annotator: match by term: MACULAR DEGENERATION, SENILE | ClinVar Annotator: match by term: MACULOPATHY, AGE-RELATED ClinVar PMID:9054934 PMID:9295268 PMID:9466990 PMID:9490294 PMID:9503029 More... NCBI chr 3:121,837,547...121,973,719
Ensembl chr 3:121,838,092...121,973,772 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 IAGP MouseDO NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279 		JBrowse link
G Ccr2 C-C motif chemokine receptor 2 IAGP MouseDO NCBI chr 9:123,901,954...123,913,594
Ensembl chr 9:123,901,987...123,913,594 		JBrowse link
G Cd46 CD46 antigen, complement regulatory protein IAGP MouseDO NCBI chr 1:194,721,279...194,781,149
Ensembl chr 1:194,719,134...194,774,557 		JBrowse link
G Cfhr1 complement factor H-related 1 ISO ClinVar Annotator: match by term: Age-related macular degeneration ClinVar PMID:16998489 PMID:17367211 PMID:18006700 PMID:20843825 NCBI chr 1:139,474,802...139,487,960
Ensembl chr 1:139,474,791...139,488,010 		JBrowse link
G Cfhr2 complement factor H-related 2 ISO ClinVar Annotator: match by term: Age-related macular degeneration ClinVar PMID:16998489 PMID:17367211 PMID:18006700 PMID:20843825 NCBI chr 1:139,738,030...139,786,437
Ensembl chr 1:139,731,905...139,786,456 		JBrowse link
G Fbln5 fibulin 5 ISO ClinVar Annotator: match by term: Age-related macular degeneration ClinVar PMID:15269314 PMID:16652333 PMID:20007835 PMID:20599547 PMID:21576112 More... NCBI chr12:101,712,820...101,785,541
Ensembl chr12:101,712,824...101,785,314 		JBrowse link
G Htra1 HtrA serine peptidase 1 susceptibility ISO DNA:snp:promoter:g.-1894G>A (rs3793917) (human) RGD PMID:22618592 RGD:7394695 NCBI chr 7:130,537,933...130,587,388
Ensembl chr 7:130,537,841...130,587,390 		JBrowse link
G mt-Tl1 tRNA leucine 1, mitochondrial ISO ClinVar Annotator: match by term: MACULOPATHY, AGE-RELATED ClinVar PMID:1284550 PMID:1315123 PMID:1323207 PMID:1360090 PMID:1454794 More... NCBI chr MT:2,676...2,750
Ensembl chr MT:2,676...2,750 		JBrowse link
G Ppargc1a peroxisome proliferative activated receptor, gamma, coactivator 1 alpha IAGP MouseDO NCBI chr 5:51,611,591...52,273,316
Ensembl chr 5:51,611,592...51,725,068 		JBrowse link
age related macular degeneration 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoe apolipoprotein E ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Age related macular degeneration 1 | ClinVar Annotator: match by term: MACULOPATHY, AGE-RELATED, 1		 CTD
OMIM
ClinVar		 PMID:8488843 PMID:9279208 PMID:9360638 PMID:22949395 PMID:24126160 More... NCBI chr 7:19,430,169...19,434,326
Ensembl chr 7:19,430,034...19,433,113 		JBrowse link
G Cfhr1 complement factor H-related 1 ISO CTD Direct Evidence: marker/mechanism CTD
OMIM		 NCBI chr 1:139,474,802...139,487,960
Ensembl chr 1:139,474,791...139,488,010 		JBrowse link
G Cfhr2 complement factor H-related 2 ISO ClinVar Annotator: match by term: Age related macular degeneration 1 | ClinVar Annotator: match by term: MACULOPATHY, AGE-RELATED, 1
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:25741868 PMID:28492532 NCBI chr 1:139,738,030...139,786,437
Ensembl chr 1:139,731,905...139,786,456 		JBrowse link
G Cryba1 crystallin, beta A1 IAGP OMIM:603075 MouseDO NCBI chr11:77,609,440...77,616,119
Ensembl chr11:77,609,441...77,616,109 		JBrowse link
G Hmcn1 hemicentin 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Age related macular degeneration 1 | ClinVar Annotator: match by term: MACULOPATHY, AGE-RELATED, 1		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:9715689 PMID:14570714 PMID:17216616 PMID:17576681 More... NCBI chr 1:150,438,251...150,869,568
Ensembl chr 1:150,438,275...150,869,186 		JBrowse link
G Vldlr very low density lipoprotein receptor IAGP OMIM:603075 MouseDO NCBI chr19:27,190,070...27,231,631
Ensembl chr19:27,193,884...27,231,631 		JBrowse link
age related macular degeneration 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cst3 cystatin C ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Age related macular degeneration 11		 OMIM
CTD
ClinVar		 PMID:11815350 PMID:25741868 PMID:25893795 PMID:28492532 PMID:33116287 NCBI chr 2:148,713,642...148,717,432
Ensembl chr 2:148,713,642...148,717,612 		JBrowse link
age related macular degeneration 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cx3cr1 C-X3-C motif chemokine receptor 1 ISO
IAGP		 ClinVar Annotator: match by term: Age related macular degeneration 12
OMIM:613784		 OMIM
ClinVar
MouseDO		 PMID:25741868 NCBI chr 9:119,877,749...119,897,362
Ensembl chr 9:119,877,749...119,898,945 		JBrowse link
age related macular degeneration 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfi complement component factor i ISO ClinVar Annotator: match by term: Age related macular degeneration 13 | ClinVar Annotator: match by term: Macular degeneration, age-related, 13, susceptibility to ClinVar
OMIM		 PMID:849647 PMID:8613545 PMID:9536098 PMID:15917334 PMID:16199547 More... NCBI chr 3:129,630,432...129,668,978
Ensembl chr 3:129,629,533...129,668,981 		JBrowse link
age related macular degeneration 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP-binding cassette, sub-family A member 4 ISO ClinVar Annotator: match by term: MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF ClinVar PMID:9054934 PMID:9973280 PMID:10090887 PMID:10612508 PMID:10634594 More... NCBI chr 3:121,837,547...121,973,719
Ensembl chr 3:121,838,092...121,973,772 		JBrowse link
G C2 complement C2 ISO ClinVar Annotator: match by term: Age related macular degeneration 14 OMIM
ClinVar		 PMID:2249879 PMID:6308626 PMID:8181962 PMID:9536098 PMID:9670930 More... NCBI chr17:35,081,578...35,101,076
Ensembl chr17:35,081,580...35,117,241 		JBrowse link
G Cfb complement factor B susceptibility ISO ClinVar Annotator: match by term: Age related macular degeneration 14 ClinVar
OMIM		 PMID:2249879 PMID:6308626 PMID:8181962 PMID:16518403 PMID:16936732 More... NCBI chr17:35,075,350...35,081,492
Ensembl chr17:35,075,350...35,081,494 		JBrowse link
G Fbln5 fibulin 5 ISO ClinVar Annotator: match by term: MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF ClinVar PMID:15269314 PMID:16652333 PMID:20007835 PMID:28492532 NCBI chr12:101,712,820...101,785,541
Ensembl chr12:101,712,824...101,785,314 		JBrowse link
age related macular degeneration 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C9 complement component 9 ISO ClinVar Annotator: match by term: Age related macular degeneration 15 ClinVar
OMIM		 PMID:2241452 PMID:9144525 PMID:9182899 PMID:9570574 PMID:9634479 More... NCBI chr15:6,474,827...6,528,306
Ensembl chr15:6,474,808...6,528,232 		JBrowse link
age related macular degeneration 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP-binding cassette, sub-family A member 4 ISO ClinVar Annotator: match by term: Age related macular degeneration 2 | ClinVar Annotator: match by term: MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: MACULOPATHY, AGE-RELATED, 2
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9054934 PMID:9295268 PMID:9466990 PMID:9490294 PMID:9503029 More... NCBI chr 3:121,837,547...121,973,719
Ensembl chr 3:121,838,092...121,973,772 		JBrowse link
G mt-Tl1 tRNA leucine 1, mitochondrial ISO ClinVar Annotator: match by term: MACULOPATHY, AGE-RELATED, 2 ClinVar PMID:1284550 PMID:1315123 PMID:1323207 PMID:1360090 PMID:1454794 More... NCBI chr MT:2,676...2,750
Ensembl chr MT:2,676...2,750 		JBrowse link
Age Related Macular Degeneration 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbln5 fibulin 5 ISO ClinVar Annotator: match by term: Macular degeneration, age-related, 3 | ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:15269314 PMID:16374472 PMID:16652333 PMID:17035250 PMID:19194475 More... NCBI chr12:101,712,820...101,785,541
Ensembl chr12:101,712,824...101,785,314 		JBrowse link
age related macular degeneration 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfh complement component factor h susceptibility IAGP
ISO		 OMIM:610698
ClinVar Annotator: match by term: Age related macular degeneration 4
CTD Direct Evidence: marker/mechanism		 MouseDO
OMIM
ClinVar
CTD		 PMID:8072530 PMID:9536098 PMID:9811382 PMID:10577907 PMID:10762557 More... NCBI chr 1:140,013,593...140,111,149
Ensembl chr 1:140,012,446...140,111,502 		JBrowse link
age related macular degeneration 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc6 excision repair cross-complementing rodent repair deficiency, complementation group 6 ISO ClinVar Annotator: match by term: Age related macular degeneration 5 ClinVar
OMIM		 PMID:9443879 PMID:9536098 PMID:10196384 PMID:10767341 PMID:16754848 More... NCBI chr14:32,235,248...32,302,947
Ensembl chr14:32,235,478...32,302,947 		JBrowse link
age related macular degeneration 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C3 complement component 3 ISO DNA:SNPs, haplotype: :multiple RGD PMID:19899988 RGD:7401252 NCBI chr17:57,510,967...57,535,136
Ensembl chr17:57,510,970...57,535,136 		JBrowse link
G Cfb complement factor B no_association ISO DNA:missense mutations:cds:p.L9H, p.R32L (rs4151667, rs641153) (human) RGD PMID:19899988 RGD:7401252 NCBI chr17:35,075,350...35,081,492
Ensembl chr17:35,075,350...35,081,494 		JBrowse link
G Dct dopachrome tautomerase ISO ClinVar Annotator: match by term: Age related macular degeneration 7 ClinVar NCBI chr14:118,250,202...118,289,658
Ensembl chr14:118,250,202...118,289,656 		JBrowse link
G Htra1 HtrA serine peptidase 1 susceptibility
severity		 ISO ClinVar Annotator: match by term: Age related macular degeneration 7 | ClinVar Annotator: match by term: Susceptibility to neovascular type of age-related macular degeneration
CTD Direct Evidence: marker/mechanism
DNA:polymorphisms:multiple (human)
DNA:snp:promoter:g.-497C>T (rs2672598) (human)
DNA:snps:promoter, exons:g.-497C>T, g.+108G>T/C, g.5230C>T (rs2672598, rs2293870, rs1049331) (human)
DNA:snp:intron:g.IVS1+9824G>A (rs932275) (human)		 OMIM
ClinVar
CTD
RGD		 PMID:16199547 PMID:17053108 PMID:17053109 PMID:17568988 PMID:18511946 More... RGD:7394722, RGD:7394721, RGD:7394719, RGD:7394713, RGD:7387295 NCBI chr 7:130,537,933...130,587,388
Ensembl chr 7:130,537,841...130,587,390 		JBrowse link
G Mc1r melanocortin 1 receptor ISO ClinVar Annotator: match by term: Macular degeneration, age-related, neovascular type ClinVar NCBI chr 8:124,133,839...124,137,483
Ensembl chr 8:124,133,846...124,137,483 		JBrowse link
age related macular degeneration 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C3 complement component 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Age related macular degeneration 9 | ClinVar Annotator: match by term: MACULAR DEGENERATION, AGE-RELATED, 9, SUSCEPTIBILITY TO		 CTD
OMIM
ClinVar		 PMID:1976733 PMID:7870343 PMID:9536098 PMID:12462331 PMID:14639503 More... NCBI chr17:57,510,967...57,535,136
Ensembl chr17:57,510,970...57,535,136 		JBrowse link
basal laminar drusen term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfh complement component factor h susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Basal laminar drusen | ClinVar Annotator: match by term: DRUSEN, EARLY ADULT-ONSET, GROUPED		 CTD
OMIM
ClinVar		 PMID:8072530 PMID:9536098 PMID:9811382 PMID:10577907 PMID:10762557 More... NCBI chr 1:140,013,593...140,111,149
Ensembl chr 1:140,012,446...140,111,502 		JBrowse link
bestrophinopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Best1 bestrophin 1 ISO
IAGP		 ClinVar Annotator: match by term: Autosomal recessive bestrophinopathy
OMIM:611809		 OMIM
ClinVar
MouseDO		 PMID:2133066 PMID:2162627 PMID:9700209 PMID:10788642 PMID:10798642 More... NCBI chr19:9,962,536...9,978,997
Ensembl chr19:9,962,538...9,978,997 		JBrowse link
G Crb1 crumbs family member 1, photoreceptor morphogenesis associated ISO ClinVar Annotator: match by term: Autosomal recessive bestrophinopathy ClinVar PMID:17128490 PMID:17297678 PMID:23379534 PMID:24033266 PMID:25474345 More... NCBI chr 1:139,101,288...139,307,262
Ensembl chr 1:139,124,794...139,304,838 		JBrowse link
G Fth1 ferritin heavy polypeptide 1 ISO ClinVar Annotator: match by term: Autosomal recessive bestrophinopathy ClinVar PMID:2133066 PMID:10788642 PMID:18985398 PMID:20927214 PMID:21273940 More... NCBI chr19:9,957,964...9,962,475
Ensembl chr19:9,957,962...9,962,462 		JBrowse link
G Prph2 peripherin 2 ISO ClinVar Annotator: match by term: Autosomal recessive bestrophinopathy ClinVar PMID:11139241 PMID:15370544 PMID:16113362 PMID:16799052 PMID:22466463 More... NCBI chr17:47,221,404...47,235,859
Ensembl chr17:47,221,385...47,235,859 		JBrowse link
Concentric Annular Macular Dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP-binding cassette, sub-family A member 4 ISO DNA:mutations:multiple:
ClinVar Annotator: match by term: Macular dystrophy, concentric annular		 ClinVar
RGD		 PMID:10090887 PMID:10958761 PMID:10958763 PMID:15614537 PMID:18285826 More... RGD:7829711 NCBI chr 3:121,837,547...121,973,719
Ensembl chr 3:121,838,092...121,973,772 		JBrowse link
G Crx cone-rod homeobox ISO ClinVar Annotator: match by term: Benign concentric annular macular dystrophy ClinVar PMID:22968130 PMID:23806086 PMID:24088041 PMID:25259927 PMID:25270190 More... NCBI chr 7:15,599,872...15,613,880
Ensembl chr 7:15,599,872...15,613,893 		JBrowse link
G Impg1 interphotoreceptor matrix proteoglycan 1 ISO ClinVar Annotator: match by term: Benign concentric annular macular dystrophy | ClinVar Annotator: match by term: IMPG1-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:4412179 PMID:14691150 PMID:16199547 PMID:23993198 PMID:25741868 More... NCBI chr 9:80,215,467...80,347,707
Ensembl chr 9:80,220,612...80,347,534 		JBrowse link
congenital hypotrichosis with juvenile macular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh3 cadherin 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital hypotrichosis with juvenile macular dystrophy | ClinVar Annotator: match by term: Hypotrichosis with juvenile macular dystrophy		 OMIM
CTD
ClinVar		 PMID:10420194 PMID:11544476 PMID:12445216 PMID:14708629 PMID:15805154 More... NCBI chr 8:107,237,484...107,283,543
Ensembl chr 8:107,237,523...107,283,929 		JBrowse link
Doyne honeycomb retinal dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Efemp1 epidermal growth factor-containing fibulin-like extracellular matrix protein 1 ISO
IAGP
IMP		 DNA:missense mutation:cds:p.R345W (human)
ClinVar Annotator: match by term: Doyne honeycomb degeneration of retina | ClinVar Annotator: match by term: Doyne honeycomb retinal dystrophy
CTD Direct Evidence: marker/mechanism
OMIM:126600
protein:altered expression: :		 ClinVar
CTD
MouseDO
OMIM
RGD		 PMID:10369267 PMID:11384588 PMID:11389162 PMID:12242346 PMID:17666404 More... RGD:1598888, RGD:10401794, RGD:10401791 NCBI chr11:28,803,154...28,876,743
Ensembl chr11:28,803,204...28,876,743 		JBrowse link
G Prph2 peripherin 2 ISO ClinVar Annotator: match by term: MALATTIA LEVENTINESE ClinVar PMID:9536098 PMID:11139241 PMID:11704030 PMID:16113362 PMID:16799052 More... NCBI chr17:47,221,404...47,235,859
Ensembl chr17:47,221,385...47,235,859 		JBrowse link
ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh3 cadherin 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CDH3-related condition | ClinVar Annotator: match by term: EEM syndrome		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:10420194 PMID:13372143 PMID:14708629 PMID:15805154 More... NCBI chr 8:107,237,484...107,283,543
Ensembl chr 8:107,237,523...107,283,929 		JBrowse link
Geographic Atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl2 C-C motif chemokine ligand 2 ISO protein:increased expression:aqueous humor of eyeball RGD PMID:24142887 RGD:8661224 NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279 		JBrowse link
G Ccr2 C-C motif chemokine receptor 2 ISO protein:increased expression:monocyte RGD PMID:24142887 RGD:8661224 NCBI chr 9:123,901,954...123,913,594
Ensembl chr 9:123,901,987...123,913,594 		JBrowse link
G Htra1 HtrA serine peptidase 1 ISO DNA:snp:promoter:g.-625G>A (rs11200638) (human) RGD PMID:17426452 RGD:7394693 NCBI chr 7:130,537,933...130,587,388
Ensembl chr 7:130,537,841...130,587,390 		JBrowse link
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 3:36,503,072...36,530,036
Ensembl chr 3:36,503,072...36,530,043 		JBrowse link
G Apoe apolipoprotein E susceptibility ISO DNA:polymorphism:exon: RGD PMID:9512153 PMID:16079201 RGD:7495762, RGD:7775015 NCBI chr 7:19,430,169...19,434,326
Ensembl chr 7:19,430,034...19,433,113 		JBrowse link
G C3 complement component 3 ISO DNA:SNP: :rs2241394 (human) RGD PMID:22174912 RGD:7401249 NCBI chr17:57,510,967...57,535,136
Ensembl chr17:57,510,970...57,535,136 		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 chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279 		JBrowse link
G Ccr2 C-C motif chemokine receptor 2 ISO protein:increased expression:monocyte: RGD PMID:22789920 RGD:8661669 NCBI chr 9:123,901,954...123,913,594
Ensembl chr 9:123,901,987...123,913,594 		JBrowse link
G Cfi complement component factor i ISO DNA:SNPs: :rs10033900, rs13117504 (human) RGD PMID:23900096 RGD:8662315 NCBI chr 3:129,630,432...129,668,978
Ensembl chr 3:129,629,533...129,668,981 		JBrowse link
G Crp C-reactive protein, pentraxin-related treatment ISO DNA:SNPs: :rs2808635,rs876538(human) RGD PMID:19692124 PMID:17400294 RGD:9491756, RGD:9491775 NCBI chr 1:172,525,623...172,527,533
Ensembl chr 1:172,525,622...172,660,598 		JBrowse link
G Eln elastin no_association ISO DNA:SNPintron: rs2301995(human) RGD PMID:22065928 PMID:18326737 RGD:7387224, RGD:9585729 NCBI chr 5:134,731,449...134,776,300
Ensembl chr 5:134,731,447...134,776,177 		JBrowse link
G Fgd6 FYVE, RhoGEF and PH domain containing 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27089177 NCBI chr10:93,871,862...93,981,201
Ensembl chr10:93,871,863...93,981,201 		JBrowse link
G Flt1 FMS-like tyrosine kinase 1 susceptibility
treatment		 ISO DNA:SNP::rs9943922, rs9508034, rs2281827, rs7324510, rs9513115 (human)
protein:increased expression:vitreous:		 RGD PMID:24812550 PMID:22868384 PMID:20609706 RGD:10402108, RGD:10402118, RGD:10402116 NCBI chr 5:147,498,414...147,663,419
Ensembl chr 5:147,498,414...147,662,821 		JBrowse link
G Gstm1 glutathione S-transferase, mu 1 susceptibility ISO DNA:deletion, haplotype:: (human) RGD PMID:28221473 RGD:12792224 NCBI chr 3:107,919,566...107,925,289
Ensembl chr 3:107,919,571...107,925,289 		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 chr19:4,085,411...4,087,912
Ensembl chr19:4,085,407...4,087,985 		JBrowse link
G Gstt1 glutathione S-transferase, theta 1 susceptibility ISO DNA:deletion, haplotype:: (human) RGD PMID:28221473 RGD:12792224 NCBI chr10:75,619,647...75,634,418
Ensembl chr10:75,619,647...75,634,418 		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 7:130,537,933...130,587,388
Ensembl chr 7:130,537,841...130,587,390 		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 chr10:87,694,127...87,772,909
Ensembl chr10:87,694,127...87,772,904 		JBrowse link
G Igf1r insulin-like growth factor I receptor ISO mRNA,protein:increased expression:endothelial cell: RGD PMID:12714661 RGD:10045893 NCBI chr 7:67,601,486...67,883,416
Ensembl chr 7:67,602,575...67,883,416 		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 1:72,863,650...72,891,633
Ensembl chr 1:72,863,662...72,891,633 		JBrowse link
G Il6 interleukin 6 ISO protein:increased expression:aqueous humor: RGD PMID:22490043 RGD:7829793 NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979 		JBrowse link
G Kdr kinase insert domain protein receptor susceptibility ISO DNA:SNP: :rs2071559(human) RGD PMID:22919317 RGD:8549752 NCBI chr 5:76,093,487...76,139,880
Ensembl chr 5:76,093,487...76,139,118 		JBrowse link
G Loxl1 lysyl oxidase-like 1 ISO DNA:SNP:exon:p.R141L (human) RGD PMID:21236409 RGD:7387334 NCBI chr 9:58,195,006...58,220,495
Ensembl chr 9:58,195,021...58,220,469 		JBrowse link
G Mapk8 mitogen-activated protein kinase 8 IMP RGD PMID:23341606 RGD:10412675 NCBI chr14:33,099,855...33,169,213
Ensembl chr14:33,099,855...33,169,115 		JBrowse link
G Mdm1 MDM1 nuclear protein IAGP DNA, mRNA:nonsense mutation, decreased expression:retina RGD PMID:18805803 RGD:10412062 NCBI chr10:117,977,446...118,004,904
Ensembl chr10:117,977,716...118,004,902 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:SNP:cds:rs1801133(human) RGD PMID:22065928 RGD:7387224 NCBI chr 4:148,123,534...148,144,019
Ensembl chr 4:148,123,534...148,144,008 		JBrowse link
G Nos3 nitric oxide synthase 3, endothelial cell susceptibility ISO DNA:snp:cds:c.894G>T (rs1799983) (human) RGD PMID:23276910 RGD:7771558 NCBI chr 5:24,569,772...24,589,472
Ensembl chr 5:24,569,808...24,589,472 		JBrowse link
G Pdgfb platelet derived growth factor, B polypeptide ISO protein:increased expression:plasma: RGD PMID:24334449 RGD:10449444 NCBI chr15:79,880,066...79,899,178
Ensembl chr15:79,880,075...79,899,178 		JBrowse link
G Pdgfrb platelet derived growth factor receptor, beta polypeptide ISO RGD PMID:22773904 RGD:10053644 NCBI chr18:61,178,194...61,218,139
Ensembl chr18:61,178,222...61,218,133 		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 6:5,168,101...5,193,824
Ensembl chr 6:5,168,090...5,193,946 		JBrowse link
G Sod2 superoxide dismutase 2, mitochondrial susceptibility ISO DNA:polymorphism:cds:p.V16A(rs4880)(human) RGD PMID:18573360 RGD:8158102 NCBI chr17:13,226,726...13,237,006
Ensembl chr17:13,225,733...13,258,950 		JBrowse link
G Tlr2 toll-like receptor 2 ISO mRNA:increased expression:peripheral blood mononuclear cell: RGD PMID:23946637 RGD:8552827 NCBI chr 3:83,743,579...83,749,045
Ensembl chr 3:83,743,579...83,749,074 		JBrowse link
G Tlr3 toll-like receptor 3 ISO mRNA:increased expression:peripheral blood mononuclear cell: RGD PMID:23946637 RGD:8552827 NCBI chr 8:45,848,702...45,864,112
Ensembl chr 8:45,848,702...45,864,117 		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 chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295 		JBrowse link
Macular Degeneration, Early-Onset term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbn2 fibrillin 2 ISO ClinVar Annotator: match by term: FBN2-related condition | ClinVar Annotator: match by term: Macular degeneration, early-onset OMIM
ClinVar		 PMID:9536098 PMID:11754102 PMID:16199547 PMID:16835936 PMID:17345643 More... NCBI chr18:58,141,689...58,343,200
Ensembl chr18:58,141,695...58,343,559 		JBrowse link
Macular Dystrophy with Central Cone Involvement term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mfsd8 major facilitator superfamily domain containing 8 ISO ClinVar Annotator: match by term: Macular dystrophy with central cone involvement OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17564970 PMID:17576681 PMID:19177532 More... NCBI chr 3:40,772,500...40,801,322
Ensembl chr 3:40,772,538...40,801,321 		JBrowse link
macular retinal edema term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoh apolipoprotein H ISO associated with Proliferative Diabetic Retinopathy;protein:decreased expression:vitreous: RGD PMID:16080911 RGD:2315548 NCBI chr11:108,286,123...108,305,222
Ensembl chr11:108,234,180...108,305,222 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 severity ISO associated with Diabetic Retinopathy;protein:increased expression:vitreous humor
associated with Retinal Vein Occlusion;protein:increased expression:vitreous humor (human)		 RGD PMID:19118698 PMID:22066978 RGD:2306981, RGD:7829760 NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279 		JBrowse link
G Clu clusterin ISO associated with Diabetes Mellitus, Type 2;protein:decreased expression:vitreous humor RGD PMID:23568601 RGD:9068396 NCBI chr14:66,206,093...66,218,992
Ensembl chr14:66,205,932...66,218,996 		JBrowse link
G Epo erythropoietin severity ISO RGD PMID:20664492 RGD:10400883 NCBI chr 5:137,481,282...137,484,078
Ensembl chr 5:137,481,282...137,531,504 		JBrowse link
G Fgf2 fibroblast growth factor 2 ISO associated with Diabetes Mellitus;protein:increased expression:aqueous humor RGD PMID:17505145 RGD:8655594 NCBI chr 3:37,402,616...37,464,255
Ensembl chr 3:37,402,495...37,464,257 		JBrowse link
G Flt1 FMS-like tyrosine kinase 1 ISO associated with Branch Retinal Vein Occlusion; protein:increased expression:aqueous humor: RGD PMID:24894397 RGD:10402117 NCBI chr 5:147,498,414...147,663,419
Ensembl chr 5:147,498,414...147,662,821 		JBrowse link
G Hif1a hypoxia inducible factor 1, alpha subunit ISO associated with central retinal vein occlusion;mRNA:increased expression:aqueous humor of eyeball (human) RGD PMID:35799735 RGD:155582223 NCBI chr12:73,948,186...73,994,304
Ensembl chr12:73,948,149...73,994,304 		JBrowse link
G Il6 interleukin 6 ISO associated with Retinal vein occlusion;protein:increased expression:vitreous:
associated with central retinal vein occlusion;protein:increased expression:aqueous humor of eyeball (human)		 RGD PMID:22066978 PMID:35799735 RGD:7829760, RGD:155582223 NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979 		JBrowse link
G Kdr kinase insert domain protein receptor ISO associated with retinal vein occlusion;protein:increased expression:vitreous humor RGD PMID:23411880 RGD:8549772 NCBI chr 5:76,093,487...76,139,880
Ensembl chr 5:76,093,487...76,139,118 		JBrowse link
G Mir210 microRNA 210 ISO associated with central retinal vein occlusion;miRNA:increased expression:aqueous humor of eyeball (human) RGD PMID:35799735 RGD:155582223 NCBI chr 7:140,801,297...140,801,406
Ensembl chr 7:140,801,297...140,801,406 		JBrowse link
G Ndp Norrie disease (pseudoglioma) (human) ISO CTD Direct Evidence: marker/mechanism CTD PMID:29654250 NCBI chr  X:16,751,760...16,778,013
Ensembl chr  X:16,751,760...16,778,013 		JBrowse link
G Nos3 nitric oxide synthase 3, endothelial cell susceptibility ISO associated with Diabetes Mellitus, Type 2;DNA:snp, duplication:promoter, intron:g.-786T>C, g.IVS4?-?+27 (human) RGD PMID:15333482 RGD:7775044 NCBI chr 5:24,569,772...24,589,472
Ensembl chr 5:24,569,808...24,589,472 		JBrowse link
G Serpinf1 serine (or cysteine) peptidase inhibitor, clade F, member 1 treatment ISO associated with Branch Retinal Vein Occlusion;protein:decreased expression:vitreous humor (human)
associated with Diabetes Mellitus, Experimental; human protein in a rat model		 RGD PMID:20714746 PMID:21139695 RGD:8554903, RGD:8655546 NCBI chr11:75,300,855...75,313,449
Ensembl chr11:75,300,595...75,313,527 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO associated with retinal vein occlusion;protein:increased expression:vitreous humor
associated with central retinal vein occlusion;protein:increased expression:aqueous humor of eyeball (human)
CTD Direct Evidence: marker/mechanism
associated with Diabetes Mellitus;protein:increased expression:aqueous humor		 CTD
RGD		 PMID:20577866 PMID:23411880 PMID:35799735 PMID:17505145 RGD:8549772, RGD:155582223, RGD:8655594 NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295 		JBrowse link
North Carolina macular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prdm13 PR domain containing 13 ISO ClinVar Annotator: match by term: Macular dystrophy retinal 1 North Carolina type | ClinVar Annotator: match by term: North Carolina macular dystrophy ClinVar PMID:9238090 PMID:9801042 PMID:9924305 PMID:10617775 PMID:25741868 More... NCBI chr 4:21,675,865...21,685,963
Ensembl chr 4:21,677,480...21,685,963 		JBrowse link
occult macular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Capn5 calpain 5 ISO ClinVar Annotator: match by term: Occult macular dystrophy ClinVar PMID:25741868 NCBI chr 7:97,770,766...97,828,148
Ensembl chr 7:97,770,766...97,827,481 		JBrowse link
G Rho rhodopsin ISO ClinVar Annotator: match by term: Occult macular dystrophy ClinVar PMID:1882937 PMID:2215617 PMID:8486634 PMID:20591486 PMID:25265376 More... NCBI chr 6:115,903,741...115,916,999
Ensembl chr 6:115,908,709...115,916,997 		JBrowse link
G Rp1l1 retinitis pigmentosa 1 homolog like 1 ISO ClinVar Annotator: match by term: OMD | ClinVar Annotator: match by term: Occult macular dystrophy | ClinVar Annotator: match by term: RP1L1-related condition OMIM
ClinVar		 PMID:12724644 PMID:20826268 PMID:22277662 PMID:22504327 PMID:23281133 More... NCBI chr14:64,229,880...64,270,955
Ensembl chr14:64,229,955...64,272,474 		JBrowse link
patterned macular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctnna1 catenin alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26691986 NCBI chr18:35,251,955...35,387,829
Ensembl chr18:35,251,912...35,387,832 		JBrowse link
G Htra1 HtrA serine peptidase 1 susceptibility ISO DNA:snp:promoter:g.-625G>A (rs11200638) (human) RGD PMID:22893068 RGD:7394745 NCBI chr 7:130,537,933...130,587,388
Ensembl chr 7:130,537,841...130,587,390 		JBrowse link
G Mapkapk3 mitogen-activated protein kinase-activated protein kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:107,132,125...107,167,082
Ensembl chr 9:107,132,126...107,167,076 		JBrowse link
G Prph2 peripherin 2 ISO DNA:polymorphism:cds:p.Y141C(human)
ClinVar Annotator: match by term: Butterfly-shaped pigment dystrophy of the fovea
CTD Direct Evidence: marker/mechanism
DNA:mutation:cds:p.G167D(human)
DNA:mutation:splice junction:
DNA:deletion,insertion:cds:		 ClinVar
CTD
RGD		 PMID:1427912 PMID:1684223 PMID:7493155 PMID:7825692 PMID:7880786 More... RGD:8553221, RGD:8554864, RGD:8553238, RGD:8553236 NCBI chr17:47,221,404...47,235,859
Ensembl chr17:47,221,385...47,235,859 		JBrowse link
patterned macular dystrophy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prph2 peripherin 2 ISO
IAGP		 ClinVar Annotator: match by term: Patterned macular dystrophy 1
OMIM:169150		 OMIM
ClinVar
MouseDO		 PMID:1427912 PMID:1684223 PMID:7493155 PMID:7710395 PMID:7825692 More... NCBI chr17:47,221,404...47,235,859
Ensembl chr17:47,221,385...47,235,859 		JBrowse link
patterned macular dystrophy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctnna1 catenin alpha 1 IAGP
ISO		 OMIM:608970
ClinVar Annotator: match by term: Patterned macular dystrophy 2		 MouseDO
ClinVar
OMIM		 PMID:5442145 PMID:9536098 PMID:17576681 PMID:25741868 PMID:26691986 More... NCBI chr18:35,251,955...35,387,829
Ensembl chr18:35,251,912...35,387,832 		JBrowse link
patterned macular dystrophy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mapkapk3 mitogen-activated protein kinase-activated protein kinase 3 ISO ClinVar Annotator: match by term: MAPKAPK3-related condition | ClinVar Annotator: match by term: Patterned macular dystrophy 3 OMIM
ClinVar		 PMID:25741868 PMID:26744326 PMID:28492532 NCBI chr 9:107,132,125...107,167,082
Ensembl chr 9:107,132,126...107,167,076 		JBrowse link
preretinal fibrosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Timp1 tissue inhibitor of metalloproteinase 1 ISO RGD PMID:11004090 RGD:2312481 NCBI chr  X:20,736,524...20,740,972
Ensembl chr  X:20,736,405...20,740,974 		JBrowse link
G Timp2 tissue inhibitor of metalloproteinase 2 ISO RGD PMID:11004090 RGD:2312481 NCBI chr11:118,191,887...118,246,237
Ensembl chr11:118,191,887...118,246,566 		JBrowse link
G Timp3 tissue inhibitor of metalloproteinase 3 ISO RGD PMID:11004090 RGD:2312481 NCBI chr10:86,136,276...86,185,369
Ensembl chr10:86,136,236...86,185,370 		JBrowse link
Radial Drusen, Autosomal Dominant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Efemp1 epidermal growth factor-containing fibulin-like extracellular matrix protein 1 ISO ClinVar Annotator: match by term: DRUSEN, RADIAL, AUTOSOMAL DOMINANT ClinVar PMID:28492532 NCBI chr11:28,803,154...28,876,743
Ensembl chr11:28,803,204...28,876,743 		JBrowse link
G Prph2 peripherin 2 ISO ClinVar Annotator: match by term: DRUSEN, RADIAL, AUTOSOMAL DOMINANT ClinVar PMID:9536098 PMID:11139241 PMID:11704030 PMID:16113362 PMID:16799052 More... NCBI chr17:47,221,404...47,235,859
Ensembl chr17:47,221,385...47,235,859 		JBrowse link
retinal drusen term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfh complement component factor h susceptibility ISO DNA:SNPs: :p.Y402H, rs1410996(human)
DNA:mutations:multiple:		 RGD PMID:18936151 PMID:22491393 RGD:7365005, RGD:7365010 NCBI chr 1:140,013,593...140,111,149
Ensembl chr 1:140,012,446...140,111,502 		JBrowse link
retinal macular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prom1 prominin 1 ISO ClinVar Annotator: match by term: Macular dystrophy, retinal ClinVar PMID:23757202 PMID:25741868 PMID:28492532 NCBI chr 5:44,150,963...44,260,850
Ensembl chr 5:44,150,962...44,259,374 		JBrowse link
retinal macular dystrophy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prom1 prominin 1 ISO ClinVar Annotator: match by term: Retinal macular dystrophy type 2
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9634506 PMID:10205271 PMID:12657606 PMID:12659814 PMID:15665353 More... NCBI chr 5:44,150,963...44,260,850
Ensembl chr 5:44,150,962...44,259,374 		JBrowse link
retinal macular dystrophy 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clec3b C-type lectin domain family 3, member b ISO ClinVar Annotator: match by term: Macular dystrophy, retinal, 4 OMIM
ClinVar		 PMID:35331648 NCBI chr 9:122,980,011...122,986,497
Ensembl chr 9:122,980,011...122,986,497 		JBrowse link
Sorsby's fundus dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Syn3 synapsin III ISO ClinVar Annotator: match by term: Sorsby fundus dystrophy ClinVar PMID:7148944 PMID:7894485 PMID:8634721 PMID:8639088 PMID:8919688 More... NCBI chr10:85,884,610...86,336,730
Ensembl chr10:85,890,989...86,334,760 		JBrowse link
G Timp3 tissue inhibitor of metalloproteinase 3 ISO
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Sorsby fundus dystrophy
OMIM:136900		 OMIM
CTD
ClinVar
MouseDO		 PMID:7148944 PMID:7894485 PMID:8634721 PMID:8639088 PMID:8919688 More... NCBI chr10:86,136,276...86,185,369
Ensembl chr10:86,136,236...86,185,370 		JBrowse link
Stargardt disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP-binding cassette, sub-family A member 4 IAGP
ISO		 OMIM:248200 | OMIM:600110 | OMIM:603786
ClinVar Annotator: match by term: STGD | ClinVar Annotator: match by term: Stargardt disease | ClinVar Annotator: match by term: Stargardt's disease
CTD Direct Evidence: marker/mechanism		 MouseDO
ClinVar
CTD		 PMID:248200 PMID:8533764 PMID:9054934 PMID:9295268 PMID:9466990 More... NCBI chr 3:121,837,547...121,973,719
Ensembl chr 3:121,838,092...121,973,772 		JBrowse link
G Abcb4 ATP-binding cassette, sub-family B member 4 ISO ClinVar Annotator: match by term: STGD ClinVar PMID:12891548 PMID:18482588 PMID:19467940 PMID:20537830 PMID:23022423 More... NCBI chr 5:8,943,614...9,009,226
Ensembl chr 5:8,943,717...9,009,231 		JBrowse link
G Best1 bestrophin 1 ISO ClinVar Annotator: match by term: Stargardt disease ClinVar PMID:10854112 PMID:16754206 PMID:18179881 PMID:21109774 PMID:21192766 More... NCBI chr19:9,962,536...9,978,997
Ensembl chr19:9,962,538...9,978,997 		JBrowse link
G Cerkl ceramide kinase-like ISO ClinVar Annotator: match by term: Stargardt disease ClinVar PMID:14681825 PMID:16199547 PMID:23591405 PMID:24043777 PMID:25741868 More... NCBI chr 2:79,162,835...79,259,332
Ensembl chr 2:79,160,887...79,287,129 		JBrowse link
G Cngb3 cyclic nucleotide gated channel beta 3 ISO ClinVar Annotator: match by term: STGD
ClinVar Annotator: match by term: STGD | ClinVar Annotator: match by term: Stargardt disease		 ClinVar PMID:15161866 PMID:15223812 PMID:15657609 PMID:15712225 PMID:16199547 More... NCBI chr 4:19,280,850...19,510,623
Ensembl chr 4:19,280,850...19,510,623 		JBrowse link
G Col2a1 collagen, type II, alpha 1 ISO ClinVar Annotator: match by term: Stargardt disease ClinVar PMID:16752401 PMID:20513134 PMID:28492532 NCBI chr15:97,873,483...97,902,525
Ensembl chr15:97,873,483...97,902,576 		JBrowse link
G Crb1 crumbs family member 1, photoreceptor morphogenesis associated ISO ClinVar Annotator: match by term: Stargardt disease ClinVar PMID:10508521 PMID:22065545 PMID:23379534 PMID:25412400 PMID:25741868 More... NCBI chr 1:139,101,288...139,307,262
Ensembl chr 1:139,124,794...139,304,838 		JBrowse link
G Crx cone-rod homeobox ISO ClinVar Annotator: match by term: Stargardt disease ClinVar PMID:28492532 PMID:29555955 PMID:30718709 PMID:32533067 PMID:35934205 NCBI chr 7:15,599,872...15,613,880
Ensembl chr 7:15,599,872...15,613,893 		JBrowse link
G Elovl4 ELOVL fatty acid elongase 4 IAGP OMIM:248200 | OMIM:600110 | OMIM:603786 MouseDO NCBI chr 9:83,660,745...83,688,358
Ensembl chr 9:83,660,745...83,688,330 		JBrowse link
G Flvcr1 feline leukemia virus subgroup C cellular receptor 1 ISO ClinVar Annotator: match by term: Stargardt disease ClinVar PMID:30718709 NCBI chr 1:190,738,029...190,758,387
Ensembl chr 1:190,738,044...190,758,355 		JBrowse link
G Gphn gephyrin ISO ClinVar Annotator: match by term: Stargardt disease ClinVar PMID:25741868 NCBI chr12:78,264,099...78,731,546
Ensembl chr12:78,273,153...78,731,546 		JBrowse link
G Kcnv2 potassium channel, subfamily V, member 2 ISO ClinVar Annotator: match by term: Stargardt disease ClinVar PMID:8333273 PMID:18235024 PMID:30718709 NCBI chr19:27,299,461...27,314,579
Ensembl chr19:27,299,988...27,314,579 		JBrowse link
G Lama4 laminin, alpha 4 ISO ClinVar Annotator: match by term: STGD ClinVar PMID:25326637 PMID:28492532 NCBI chr10:38,841,511...38,986,184
Ensembl chr10:38,841,511...38,986,184 		JBrowse link
G Lrit3 leucine-rich repeat, immunoglobulin-like and transmembrane domains 3 ISO ClinVar Annotator: match by term: Stargardt disease ClinVar PMID:27428514 PMID:28492532 NCBI chr 3:129,577,590...129,597,785
Ensembl chr 3:129,581,530...129,597,679 		JBrowse link
G Mfsd8 major facilitator superfamily domain containing 8 ISO ClinVar Annotator: match by term: STGD ClinVar PMID:25333361 PMID:25741868 PMID:28041643 PMID:28492532 PMID:28586915 More... NCBI chr 3:40,772,500...40,801,322
Ensembl chr 3:40,772,538...40,801,321 		JBrowse link
G Opa1 OPA1, mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: Stargardt disease ClinVar PMID:11440988 PMID:11440989 PMID:20157015 PMID:20952381 PMID:23384603 More... NCBI chr16:29,398,099...29,481,924
Ensembl chr16:29,398,152...29,473,702 		JBrowse link
G Pcare photoreceptor cilium actin regulator ISO ClinVar Annotator: match by term: Stargardt disease ClinVar PMID:4543597 PMID:20398884 PMID:20398886 PMID:24339724 PMID:26496393 More... NCBI chr17:72,050,919...72,059,904
Ensembl chr17:72,050,550...72,059,889 		JBrowse link
G Prom1 prominin 1 ISO ClinVar Annotator: match by term: Stargardt disease ClinVar PMID:9536098 PMID:9634506 PMID:10205271 PMID:12657606 PMID:12659814 More... NCBI chr 5:44,150,963...44,260,850
Ensembl chr 5:44,150,962...44,259,374 		JBrowse link
G Prph2 peripherin 2 ISO ClinVar Annotator: match by term: Stargardt disease | ClinVar Annotator: match by term: Stargardt's disease
ClinVar Annotator: match by term: STGD | ClinVar Annotator: match by term: Stargardt disease | ClinVar Annotator: match by term: Stargardt's disease		 ClinVar PMID:279751 PMID:4142662 PMID:7493155 PMID:7519821 PMID:7825692 More... NCBI chr17:47,221,404...47,235,859
Ensembl chr17:47,221,385...47,235,859 		JBrowse link
G Rdh12 retinol dehydrogenase 12 ISO ClinVar Annotator: match by term: Stargardt disease ClinVar PMID:25741868 NCBI chr12:79,255,687...79,269,438
Ensembl chr12:79,255,688...79,269,439 		JBrowse link
G Rho rhodopsin ISO ClinVar Annotator: match by term: STGD ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr 6:115,903,741...115,916,999
Ensembl chr 6:115,908,709...115,916,997 		JBrowse link
G Rp1l1 retinitis pigmentosa 1 homolog like 1 ISO ClinVar Annotator: match by term: Stargardt disease ClinVar NCBI chr14:64,229,880...64,270,955
Ensembl chr14:64,229,955...64,272,474 		JBrowse link
G Snrnp200 small nuclear ribonucleoprotein 200 (U5) ISO ClinVar Annotator: match by term: Stargardt disease ClinVar PMID:30718709 NCBI chr 2:127,050,306...127,082,373
Ensembl chr 2:127,050,306...127,082,371 		JBrowse link
G Tulp1 TUB like protein 1 ISO ClinVar Annotator: match by term: Stargardt disease ClinVar PMID:25741868 NCBI chr17:28,570,489...28,584,190
Ensembl chr17:28,570,489...28,584,196 		JBrowse link
G Vmn2r17 vomeronasal 2, receptor 17 ISO ClinVar Annotator: match by term: Stargardt disease ClinVar PMID:9536098 PMID:17576681 PMID:23591405 PMID:25133751 PMID:28492532 More... NCBI chr 5:109,567,879...109,601,253
Ensembl chr 5:109,567,554...109,606,325 		JBrowse link
Stargardt Disease 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP-binding cassette, sub-family A member 4 susceptibility
treatment		 ISO
IMP		 ClinVar Annotator: match by term: Fundus flavimaculatus | ClinVar Annotator: match by term: Generalized choriocapillaris dystrophy | ClinVar Annotator: match by term: MACULAR DYSTROPHY WITH FLECKS, TYPE 1 | ClinVar Annotator: match by term: Stargardt Disease, Recessive | ClinVar Annotator: match by term: Stargardt disease 1
DNA:mutation:exon:c.2041C>T(human)
DNA:mutations:multiple:		 OMIM
ClinVar
RGD		 PMID:248200 PMID:8533764 PMID:9054934 PMID:9295268 PMID:9466990 More... RGD:7829716, RGD:7815046, RGD:7815046, RGD:7815045 NCBI chr 3:121,837,547...121,973,719
Ensembl chr 3:121,838,092...121,973,772 		JBrowse link
G Abcb4 ATP-binding cassette, sub-family B member 4 ISO ClinVar Annotator: match by term: Stargardt disease 1 ClinVar PMID:12891548 PMID:18482588 PMID:19467940 PMID:20537830 PMID:23022423 More... NCBI chr 5:8,943,614...9,009,226
Ensembl chr 5:8,943,717...9,009,231 		JBrowse link
G Bcs1l BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone ISO ClinVar Annotator: match by term: MACULAR DYSTROPHY WITH FLECKS, TYPE 1 ClinVar PMID:12215968 PMID:12910490 PMID:17314340 PMID:19162478 PMID:19389488 More... NCBI chr 1:74,627,448...74,631,602
Ensembl chr 1:74,627,448...74,631,602 		JBrowse link
G Best1 bestrophin 1 ISO ClinVar Annotator: match by term: Fundus flavimaculatus ClinVar PMID:10854112 PMID:16754206 PMID:18179881 PMID:21109774 PMID:21192766 More... NCBI chr19:9,962,536...9,978,997
Ensembl chr19:9,962,538...9,978,997 		JBrowse link
G Cngb3 cyclic nucleotide gated channel beta 3 ISO ClinVar Annotator: match by term: MACULAR DYSTROPHY WITH FLECKS, TYPE 1 | ClinVar Annotator: match by term: Stargardt Disease, Recessive | ClinVar Annotator: match by term: Stargardt disease 1
ClinVar Annotator: match by term: Fundus flavimaculatus | ClinVar Annotator: match by term: MACULAR DYSTROPHY WITH FLECKS, TYPE 1 | ClinVar Annotator: match by term: Stargardt Disease, Recessive | ClinVar Annotator: match by term: Stargardt disease 1		 ClinVar PMID:1347967 PMID:10888875 PMID:10958649 PMID:12815043 PMID:14757870 More... NCBI chr 4:19,280,850...19,510,623
Ensembl chr 4:19,280,850...19,510,623 		JBrowse link
G Kcnv2 potassium channel, subfamily V, member 2 ISO ClinVar Annotator: match by term: Fundus flavimaculatus ClinVar PMID:8333273 PMID:18235024 PMID:30718709 NCBI chr19:27,299,461...27,314,579
Ensembl chr19:27,299,988...27,314,579 		JBrowse link
G Lama4 laminin, alpha 4 ISO ClinVar Annotator: match by term: Stargardt disease 1 ClinVar PMID:25326637 PMID:28492532 NCBI chr10:38,841,511...38,986,184
Ensembl chr10:38,841,511...38,986,184 		JBrowse link
G Mfsd8 major facilitator superfamily domain containing 8 ISO ClinVar Annotator: match by term: Stargardt disease 1 ClinVar PMID:25333361 PMID:25741868 PMID:28041643 PMID:28492532 PMID:28586915 More... NCBI chr 3:40,772,500...40,801,322
Ensembl chr 3:40,772,538...40,801,321 		JBrowse link
G Opa1 OPA1, mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: Fundus flavimaculatus ClinVar PMID:11440988 PMID:11440989 PMID:20157015 PMID:20952381 PMID:23384603 More... NCBI chr16:29,398,099...29,481,924
Ensembl chr16:29,398,152...29,473,702 		JBrowse link
G Prom1 prominin 1 ISO ClinVar Annotator: match by term: Fundus flavimaculatus ClinVar PMID:10205271 PMID:16199547 PMID:17605048 PMID:19718270 PMID:24154662 More... NCBI chr 5:44,150,963...44,260,850
Ensembl chr 5:44,150,962...44,259,374 		JBrowse link
G Prph2 peripherin 2 ISO ClinVar Annotator: match by term: Fundus flavimaculatus | ClinVar Annotator: match by term: Stargardt disease 1
ClinVar Annotator: match by term: Fundus flavimaculatus | ClinVar Annotator: match by term: Stargardt Disease, Recessive
ClinVar Annotator: match by term: Fundus flavimaculatus | ClinVar Annotator: match by term: Stargardt Disease, Recessive | ClinVar Annotator: match by term: Stargardt disease 1		 ClinVar PMID:279751 PMID:4142662 PMID:7493155 PMID:7519821 PMID:7825692 More... NCBI chr17:47,221,404...47,235,859
Ensembl chr17:47,221,385...47,235,859 		JBrowse link
G Rho rhodopsin ISO ClinVar Annotator: match by term: Stargardt disease 1 ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr 6:115,903,741...115,916,999
Ensembl chr 6:115,908,709...115,916,997 		JBrowse link
G Rp1l1 retinitis pigmentosa 1 homolog like 1 ISO ClinVar Annotator: match by term: Fundus flavimaculatus ClinVar NCBI chr14:64,229,880...64,270,955
Ensembl chr14:64,229,955...64,272,474 		JBrowse link
Stargardt Disease 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP-binding cassette, sub-family A member 4 ISO ClinVar Annotator: match by term: Stargardt disease 3 ClinVar PMID:9054934 PMID:9503029 PMID:9781034 PMID:9973280 PMID:10090887 More... NCBI chr 3:121,837,547...121,973,719
Ensembl chr 3:121,838,092...121,973,772 		JBrowse link
G Elovl4 ELOVL fatty acid elongase 4 ISO ClinVar Annotator: match by term: STARGARDT-LIKE MACULAR DYSTROPHY, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Stargardt disease 3
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:5048218 PMID:11138005 PMID:15028284 PMID:15557430 PMID:22948568 More... NCBI chr 9:83,660,745...83,688,358
Ensembl chr 9:83,660,745...83,688,330 		JBrowse link
G Fgfr1 fibroblast growth factor receptor 1 IEP mRNA,protein:increased expression:optic cup: RGD PMID:22199241 RGD:10402074 NCBI chr 8:26,008,808...26,067,819
Ensembl chr 8:26,003,670...26,065,734 		JBrowse link
Stargardt Disease 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elovl4 ELOVL fatty acid elongase 4 ISO ClinVar Annotator: match by term: Stargardt Disease, Dominant ClinVar NCBI chr 9:83,660,745...83,688,358
Ensembl chr 9:83,660,745...83,688,330 		JBrowse link
G Prom1 prominin 1 ISO ClinVar Annotator: match by term: Stargardt Disease, Dominant | ClinVar Annotator: match by term: Stargardt disease 4
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9634506 PMID:10205271 PMID:12657606 PMID:12659814 PMID:15665353 More... NCBI chr 5:44,150,963...44,260,850
Ensembl chr 5:44,150,962...44,259,374 		JBrowse link
Subretinal Fibrosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il6 interleukin 6 IEP RGD PMID:24790857 RGD:10402815 NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979 		JBrowse link
G Il6ra interleukin 6 receptor, alpha treatment IMP RGD PMID:24790857 RGD:10402815 NCBI chr 3:89,776,631...89,820,503
Ensembl chr 3:89,771,366...89,820,503 		JBrowse link
vitelliform macular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Best1 bestrophin 1 IAGP
ISO		 OMIM:153700 | OMIM:153840 | OMIM:608161 | OMIM:616151 | OMIM:616152
CTD Direct Evidence: marker/mechanism		 MouseDO
CTD		 NCBI chr19:9,962,536...9,978,997
Ensembl chr19:9,962,538...9,978,997 		JBrowse link
G Htra1 HtrA serine peptidase 1 susceptibility ISO DNA:snp:promoter:g.-625G>A (rs11200638) (human) RGD PMID:22893068 RGD:7394745 NCBI chr 7:130,537,933...130,587,388
Ensembl chr 7:130,537,841...130,587,390 		JBrowse link
G Impg1 interphotoreceptor matrix proteoglycan 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:80,215,467...80,347,707
Ensembl chr 9:80,220,612...80,347,534 		JBrowse link
G Impg2 interphotoreceptor matrix proteoglycan 2 ISO
IAGP		 CTD Direct Evidence: marker/mechanism
OMIM:153700 | OMIM:153840 | OMIM:608161 | OMIM:616151 | OMIM:616152		 CTD
MouseDO		 NCBI chr16:56,019,447...56,094,119
Ensembl chr16:56,024,676...56,094,119 		JBrowse link
G Prph2 peripherin 2 ISO DNA:polymorphism:cds:p.Y141C(human)
ClinVar Annotator: match by term: Vitelliform macular dystrophy
CTD Direct Evidence: marker/mechanism
DNA:deletion:cds:112del(human)
DNA:polymorphisms,haplotype:cds:p.E304Q,G338D(human)		 ClinVar
CTD
RGD		 PMID:25741868 PMID:28492532 PMID:32531846 PMID:15370544 PMID:12566026 More... RGD:8553221, RGD:8554859, RGD:8553239 NCBI chr17:47,221,404...47,235,859
Ensembl chr17:47,221,385...47,235,859 		JBrowse link
Vitelliform Macular Dystrophy 1 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: Vitelliform macular dystrophy 1 ClinVar PMID:10854112 PMID:17065513 PMID:18289629 PMID:21436265 PMID:23213274 More... NCBI chr19:9,962,536...9,978,997
Ensembl chr19:9,962,538...9,978,997 		JBrowse link
G Impg1 interphotoreceptor matrix proteoglycan 1 ISO ClinVar Annotator: match by term: Vitelliform macular dystrophy 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:80,215,467...80,347,707
Ensembl chr 9:80,220,612...80,347,534 		JBrowse link
G Myh9 myosin, heavy polypeptide 9, non-muscle ISO ClinVar Annotator: match by term: Vitelliform macular dystrophy 1 ClinVar PMID:24033266 PMID:24130771 PMID:25077172 PMID:25741868 PMID:26467025 More... NCBI chr15:77,644,788...77,726,315
Ensembl chr15:77,644,787...77,726,375 		JBrowse link
Vitelliform Macular Dystrophy 2 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: Vitelliform macular dystrophy 2 OMIM
ClinVar		 PMID:838599 PMID:2133066 PMID:2162627 PMID:9536098 PMID:9662395 More... NCBI chr19:9,962,536...9,978,997
Ensembl chr19:9,962,538...9,978,997 		JBrowse link
G Fth1 ferritin heavy polypeptide 1 ISO ClinVar Annotator: match by term: Vitelliform macular dystrophy 2 ClinVar PMID:2133066 PMID:10788642 PMID:13129869 PMID:14615048 PMID:18985398 More... NCBI chr19:9,957,964...9,962,475
Ensembl chr19:9,957,962...9,962,462 		JBrowse link
G Impg1 interphotoreceptor matrix proteoglycan 1 ISO ClinVar Annotator: match by term: Vitelliform macular dystrophy 2 ClinVar PMID:25741868 NCBI chr 9:80,215,467...80,347,707
Ensembl chr 9:80,220,612...80,347,534 		JBrowse link
G Impg2 interphotoreceptor matrix proteoglycan 2 ISO ClinVar Annotator: match by term: Vitelliform macular dystrophy 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr16:56,019,447...56,094,119
Ensembl chr16:56,024,676...56,094,119 		JBrowse link
G Prph2 peripherin 2 ISO ClinVar Annotator: match by term: Best vitelliform macular dystrophy, multifocal | ClinVar Annotator: match by term: Vitelliform macular dystrophy 2 ClinVar PMID:1427912 PMID:4142662 PMID:7493155 PMID:7519821 PMID:7862413 More... NCBI chr17:47,221,404...47,235,859
Ensembl chr17:47,221,385...47,235,859 		JBrowse link
Vitelliform Macular Dystrophy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Impg2 interphotoreceptor matrix proteoglycan 2 ISO ClinVar Annotator: match by term: Vitelliform macular dystrophy 3 ClinVar NCBI chr16:56,019,447...56,094,119
Ensembl chr16:56,024,676...56,094,119 		JBrowse link
G Prph2 peripherin 2 ISO ClinVar Annotator: match by term: Adult onset vitelliform dystrophy | ClinVar Annotator: match by term: FOVEOMACULAR DYSTROPHY, ADULT-ONSET, WITH OR WITHOUT CHOROIDAL NEOVASCULARIZATION | ClinVar Annotator: match by term: Macular dystrophy, vitelliform, adult-onset | ClinVar Annotator: match by term: Vitelliform macular dystrophy 3 OMIM
ClinVar		 PMID:1427912 PMID:4142662 PMID:7519821 PMID:7862413 PMID:8111389 More... NCBI chr17:47,221,404...47,235,859
Ensembl chr17:47,221,385...47,235,859 		JBrowse link
Vitelliform Macular Dystrophy 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Impg1 interphotoreceptor matrix proteoglycan 1 ISO ClinVar Annotator: match by term: Vitelliform macular dystrophy 4 OMIM
ClinVar		 PMID:16199547 PMID:23993198 PMID:25741868 PMID:28492532 PMID:28644393 More... NCBI chr 9:80,215,467...80,347,707
Ensembl chr 9:80,220,612...80,347,534 		JBrowse link
Vitelliform Macular Dystrophy 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdhr1 cadherin-related family member 1 ISO ClinVar Annotator: match by term: Macular dystrophy, retinal, 5 ClinVar PMID:9536098 PMID:17576681 PMID:23591405 PMID:24033266 PMID:25741868 More... NCBI chr14:36,799,806...36,820,304
Ensembl chr14:36,799,814...36,820,304 		JBrowse link
G Impg2 interphotoreceptor matrix proteoglycan 2 ISO ClinVar Annotator: match by term: Vitelliform macular dystrophy 5 OMIM
ClinVar		 PMID:20673862 PMID:24876279 PMID:25085631 PMID:25741868 PMID:25999674 More... NCBI chr16:56,019,447...56,094,119
Ensembl chr16:56,024,676...56,094,119 		JBrowse link
X-linked atrophic macular degeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rpgr retinitis pigmentosa GTPase regulator ISO ClinVar Annotator: match by term: Macular degeneration, X-linked atrophic OMIM
ClinVar		 PMID:8673101 PMID:12160730 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr  X:10,024,455...10,083,034
Ensembl chr  X:9,939,860...10,083,159 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16223
    Diseases of the Aged 1288
      macular degeneration 161
        Concentric Annular Macular Dystrophy 3
        Geographic Atrophy 3
        Kuhnt-Junius degeneration + 32
        Macular Degeneration, Early-Onset 1
        Macular Dystrophy with Central Cone Involvement 1
        Macular Dystrophy, Fenestrated Sheen Type 0
        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
        X-Linked Macular Dystrophy + 1
        bestrophinopathy 4
        congenital hypotrichosis with juvenile macular dystrophy 1
        degeneration of macula and posterior pole + 81
        diabetic maculopathy + 0
        ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome 1
        macular retinal edema + 14
        occult macular dystrophy 3
        patterned macular dystrophy + 4
        retinal macular dystrophy + 3
        vitelliform macular dystrophy + 8
Path 2
Term Annotations click to browse term
  disease 16223
    Pathological Conditions, Signs and Symptoms 12630
      Signs and Symptoms 10508
        Neurologic Manifestations 10166
          sensory system disease 7138
            eye disease 3688
              eye degenerative disease 869
                retinal degeneration 867
                  macular degeneration 161
                    Concentric Annular Macular Dystrophy 3
                    Geographic Atrophy 3
                    Kuhnt-Junius degeneration + 32
                    Macular Degeneration, Early-Onset 1
                    Macular Dystrophy with Central Cone Involvement 1
                    Macular Dystrophy, Fenestrated Sheen Type 0
                    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
                    X-Linked Macular Dystrophy + 1
                    bestrophinopathy 4
                    congenital hypotrichosis with juvenile macular dystrophy 1
                    degeneration of macula and posterior pole + 81
                    diabetic maculopathy + 0
                    ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome 1
                    macular retinal edema + 14
                    occult macular dystrophy 3
                    patterned macular dystrophy + 4
                    retinal macular dystrophy + 3
                    vitelliform macular dystrophy + 8
paths to the root