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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: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.

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 subfamily A member 4 susceptibility ISO ClinVar Annotator: match by term: Macular degeneration
ClinVar Annotator: match by term: Macular dystrophy
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:9054934 PMID:9295268 PMID:9466990 PMID:9781034 PMID:9973280 More... RGD:1598551 NCBI chr 2:210,164,813...210,302,069
Ensembl chr 2:210,164,813...210,302,069 		JBrowse link
G Adipor1 adiponectin receptor 1 ISO DNA:SNP:intron:c.-95+191A>G (rs10753929) (human) RGD PMID:22387454 RGD:8694465 NCBI chr13:45,859,461...45,879,248
Ensembl chr13:45,859,533...45,879,241 		JBrowse link
G Apoe apolipoprotein E susceptibility
no_association		 ISO CTD Direct Evidence: marker/mechanism
DNA:haplotype:cds:
DNA:polymorphism:exon:		 CTD PMID:16453339 PMID:15118671 PMID:16079201 PMID:19384966 PMID:10859513 More... RGD:1331525, RGD:7775015, RGD:7771587, RGD:7771552, RGD:7495761 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932 		JBrowse link
G Atf6 activating transcription factor 6 ISO ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:28041643 NCBI chr13:82,927,579...83,106,381
Ensembl chr13:82,930,034...83,107,177 		JBrowse link
G Bad BCL2-associated agonist of cell death severity ISO protein:increased expression:vitreous humor RGD PMID:22773904 RGD:10053644 NCBI chr 1:204,133,502...204,142,829
Ensembl chr 1:204,131,501...204,142,823 		JBrowse link
G Bax BCL2 associated X, apoptosis regulator ISO RGD PMID:20054800 RGD:10043353 NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368 		JBrowse link
G Best1 bestrophin 1 ISO Best macular dystrophy, OMIM:153700
ClinVar Annotator: match by term: Macular dystrophy		 ClinVar PMID:10798642 PMID:25741868 PMID:27193166 PMID:28481155 PMID:28492532 More... RGD:1599738 NCBI chr 1:206,629,340...206,646,085
Ensembl chr 1:206,629,500...206,646,063 		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 chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306 		JBrowse link
G C1qtnf5 C1q and TNF related 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16123441 NCBI chr 8:44,450,934...44,453,075
Ensembl chr 8:44,451,154...44,453,074 		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		 PMID:2249879 PMID:6308626 PMID:8181962 PMID:16518403 PMID:16936732 More... RGD:1600582, RGD:7411731, RGD:7411720, RGD:7411713, RGD:7411691, RGD:7411694, RGD:7411693, RGD:7411692 NCBI chr20:3,951,474...3,970,376
Ensembl chr20:3,951,474...3,976,505 		JBrowse link
G C3 complement C3 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		 PMID:17767156 PMID:24036949 PMID:24036950 PMID:24036952 PMID:28492532 More... RGD:7401268, RGD:7411723, RGD:7411715 NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429 		JBrowse link
G C9 complement C9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24036952 NCBI chr 2:55,573,094...55,621,345
Ensembl chr 2:55,572,992...55,621,338 		JBrowse link
G Cacna1f calcium voltage-gated channel subunit alpha1 F ISO ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:9536098 PMID:17576681 PMID:28166811 PMID:28492532 PMID:30718709 NCBI chr  X:14,868,096...14,896,413
Ensembl chr  X:14,868,024...14,896,413 		JBrowse link
G Cacng3 calcium voltage-gated channel auxiliary subunit gamma 3 susceptibility ISO DNA:SNPs: : RGD PMID:21169531 RGD:13524556 NCBI chr 1:177,201,990...177,296,473
Ensembl chr 1:177,201,288...177,297,024 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 severity ISO mRNA,protein:increased expression:retina:
protein:increased expression:aqueous humor (human)		 RGD PMID:14566334 PMID:17652758 PMID:24142887 PMID:22172228 RGD:8548856, RGD:9491385, RGD:8661224, RGD:8549496 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226 		JBrowse link
G Ccr2 C-C motif chemokine receptor 2 no_association ISO protein:increased expression:plasma: RGD PMID:16857270 PMID:18172114 RGD:8657363, RGD:7794843 NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100 		JBrowse link
G Cd36 CD36 molecule IAGP RGD PMID:18288886 RGD:2307226 NCBI chr 4:17,317,343...17,410,084 JBrowse link
G Cdh3 cadherin 3 ISO ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:10420194 PMID:14708629 PMID:15805154 PMID:28041643 NCBI chr19:34,393,596...34,444,084
Ensembl chr19:34,393,727...34,444,084 		JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A ISO RGD PMID:20054800 RGD:10043353 NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585 		JBrowse link
G Cdkn1b cyclin-dependent kinase inhibitor 1B ISO RGD PMID:20054800 RGD:10043353 NCBI chr 4:167,760,067...167,765,177
Ensembl chr 4:167,760,181...167,764,982 		JBrowse link
G Cerkl ceramide kinase-like ISO ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:25741868 NCBI chr 3:64,238,714...64,344,695
Ensembl chr 3:64,237,522...64,340,675 		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
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		 PMID:2249879 PMID:6308626 PMID:8181962 PMID:16518403 PMID:16936732 More... RGD:7411691, RGD:7411731, RGD:7411720, RGD:7411714, RGD:7411713, RGD:7411713, RGD:7411694 NCBI chr20:3,970,643...3,976,510 JBrowse link
G Cfh complement 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		 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 chr13:51,512,376...51,613,829
Ensembl chr13:51,511,828...51,613,838 		JBrowse link
G Cfi complement 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 PMID:23685748 PMID:24036952 PMID:26691988 PMID:23685748 PMID:22815349 More... RGD:8662313, RGD:8662321, RGD:8662315 NCBI chr 2:218,389,079...218,430,565
Ensembl chr 2:218,387,990...218,430,561 		JBrowse link
G Cnga1 cyclic nucleotide gated channel subunit alpha 1 ISO ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:7479749 PMID:24033266 PMID:24265693 PMID:25326637 PMID:25741868 More... NCBI chr14:35,566,947...35,605,065
Ensembl chr14:35,567,125...35,605,065 		JBrowse link
G Cnga3 cyclic nucleotide gated channel subunit alpha 3 ISO ClinVar Annotator: match by term: Macular dystrophy
ClinVar Annotator: match by term: Macular degeneration		 ClinVar PMID:11536077 PMID:17693388 PMID:18445228 PMID:20238023 PMID:23972307 More... NCBI chr 9:39,447,532...39,497,883
Ensembl chr 9:39,448,034...39,493,183 		JBrowse link
G Cngb3 cyclic nucleotide gated channel subunit beta 3 ISO ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:28041643 PMID:28795510 NCBI chr 5:32,746,988...32,995,121
Ensembl chr 5:32,746,988...32,995,121 		JBrowse link
G Col18a1 collagen type XVIII alpha 1 chain ISO ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:19390655 PMID:21862674 PMID:23667181 PMID:25741868 PMID:28041643 More... NCBI chr20:11,474,104...11,582,593
Ensembl chr20:11,474,104...11,582,593 		JBrowse link
G Crb1 crumbs cell polarity complex component 1 ISO DNA:frameshift mutation
ClinVar Annotator: match by term: Macular dystrophy		 ClinVar PMID:10508521 PMID:11389483 PMID:12700176 PMID:15024725 PMID:15459956 More... RGD:8552788 NCBI chr13:50,801,484...50,989,261
Ensembl chr13:50,800,959...50,989,261 		JBrowse link
G Crp C-reactive protein susceptibility ISO protein:increased expression:serum: RGD PMID:20346514 PMID:16225921 RGD:9491758, RGD:9491760 NCBI chr13:85,131,635...85,175,179
Ensembl chr13:85,124,977...85,175,178 		JBrowse link
G Crx cone-rod homeobox ISO ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:28041643 NCBI chr 1:76,540,141...76,545,818
Ensembl chr 1:76,540,141...76,545,818 		JBrowse link
G Cryab crystallin, alpha B treatment IEP RGD PMID:25483086 RGD:13503350 NCBI chr 8:51,093,441...51,099,161
Ensembl chr 8:51,093,441...51,099,157 		JBrowse link
G Cx3cr1 C-X3-C motif chemokine receptor 1 no_association ISO 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 8:119,785,726...119,799,431
Ensembl chr 8:119,782,595...119,800,014 		JBrowse link
G Efemp1 EGF containing fibulin extracellular matrix protein 1 no_association ISO protein:altered expression: : RGD PMID:17666404 PMID:12242346 PMID:17872905 RGD:10401788, RGD:10401794, RGD:10401789 NCBI chr14:102,610,813...102,690,027
Ensembl chr14:102,610,908...102,690,018 		JBrowse link
G Eln elastin ISO protein:increased expression:serum: RGD PMID:16123400 RGD:9585737 NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928 		JBrowse link
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit susceptibility ISO DNA:missense mutations, haplotype:cds:p.D312N, p.K751Q (human) RGD PMID:20375340 RGD:10401085 NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102 		JBrowse link
G Ercc6 ERCC excision repair 6, chromatin remodeling factor onset ISO ClinVar Annotator: match by term: Macular degeneration
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:16754848 PMID:18414213 PMID:25741868 PMID:28492532 PMID:21072178 RGD:10401096 NCBI chr16:7,764,983...7,835,587
Ensembl chr16:7,765,013...7,835,587 		JBrowse link
G Esr1 estrogen receptor 1 ISO DNA:snps, haplotype:intron:c.454-397T>C, c.454-351A>G (rs2234693, rs9340799) (human) RGD PMID:17325140 RGD:10045664 NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002 		JBrowse link
G Fas Fas cell surface death receptor severity ISO protein:increased expression:choroid, epithelioid cell (human) RGD PMID:9488273 RGD:8662418 NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591 		JBrowse link
G Fbln5 fibulin 5 ISO ClinVar Annotator: match by term: Macular degeneration ClinVar PMID:24033266 NCBI chr 6:120,899,219...120,977,829
Ensembl chr 6:120,899,224...120,977,755 		JBrowse link
G Flt1 Fms related receptor tyrosine kinase 1 ISO RGD PMID:21731737 RGD:5684426 NCBI chr12:7,296,899...7,468,626
Ensembl chr12:7,297,292...7,468,626 		JBrowse link
G Fscn2 fascin actin-bundling protein 2, retinal ISO ClinVar Annotator: match by term: Macular degeneration ClinVar PMID:11527955 PMID:14609921 PMID:15994872 PMID:16280978 PMID:16799052 More... NCBI chr10:105,634,783...105,641,322
Ensembl chr10:105,634,783...105,641,322 		JBrowse link
G Gsr glutathione-disulfide reductase ISO protein:decreased expression:blood RGD PMID:7803358 RGD:10401825 NCBI chr16:58,482,209...58,525,256
Ensembl chr16:58,482,505...58,525,661 		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 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411 		JBrowse link
G Gstm3 glutathione S-transferase mu 3 ISO mRNA, protein:decreased expression:pigmented layer of retina (human) RGD PMID:22410570 RGD:12792247
G Gstm5 glutathione S-transferase, mu 5 ISO mRNA, protein:decreased expression:pigmented layer of retina (human) RGD PMID:22410570 RGD:12792247 NCBI chr 2:195,531,627...195,534,562
Ensembl chr 2:195,531,495...195,534,553 		JBrowse link
G Guca1a guanylate cyclase activator 1A ISO ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:9425234 PMID:9651312 PMID:9702199 PMID:11146732 PMID:15953638 More... NCBI chr 9:13,587,695...13,598,566
Ensembl chr 9:13,588,525...13,598,565 		JBrowse link
G Gucy2d guanylate cyclase 2D, retinal ISO ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:10676808 PMID:11115851 PMID:11565546 PMID:12552567 PMID:24875811 More... NCBI chr10:53,954,918...53,975,576
Ensembl chr10:53,959,010...53,974,067 		JBrowse link
G Hic1 HIC ZBTB transcriptional repressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30742112 NCBI chr10:60,014,520...60,019,475
Ensembl chr10:60,011,528...60,019,475 		JBrowse link
G Hmcn1 hemicentin 1 ISO ClinVar Annotator: match by term: Macular degeneration ClinVar PMID:28492532 NCBI chr13:62,615,461...63,084,524
Ensembl chr13:62,615,461...63,084,524 		JBrowse link
G Hspa8 heat shock protein family A (Hsp70) member 8 ISO mRNA: increased expression: white blood cells RGD PMID:19684010 RGD:6478714 NCBI chr 8:41,183,397...41,187,260
Ensembl chr 8:41,183,264...41,187,259 		JBrowse link
G Htra1 HtrA serine peptidase 1 susceptibility ISO DNA:snp:promoter:g.-1894G>A (rs3793917) (human)
ClinVar Annotator: match by term: Macular degeneration		 ClinVar PMID:18164066 PMID:18316707 PMID:25741868 PMID:26467025 PMID:27338780 More... RGD:7394695 NCBI chr 1:185,497,815...185,547,380
Ensembl chr 1:185,497,735...185,547,379 		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 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889 		JBrowse link
G Impg1 interphotoreceptor matrix proteoglycan 1 ISO ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:28041643 PMID:28492532 NCBI chr 8:81,243,624...81,389,722
Ensembl chr 8:81,243,624...81,389,722 		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 chr11:44,318,836...44,418,382
Ensembl chr11:44,318,836...44,418,382 		JBrowse link
G Kdr kinase insert domain receptor treatment ISO DNA:SNPs:: rs4576072,rs6828477(human) RGD PMID:21731737 PMID:24365177 RGD:5684426, RGD:8549717 NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018 		JBrowse link
G Mbd2 methyl-CpG binding domain protein 2 ISO RGD PMID:24939308 RGD:9588663 NCBI chr18:64,174,002...64,240,795
Ensembl chr18:64,174,002...64,240,794 		JBrowse link
G Mir23a microRNA 23a ISO RNA:decreased expression:retinal pigment epithelial cell: RGD PMID:21693609 RGD:10053591 NCBI chr19:23,954,997...23,955,071
Ensembl chr19:23,954,997...23,955,071 		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 chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870 		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 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Mt-nd4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 ISO DNA:SNP, haplotype:cds:m.11812A>G (human) RGD PMID:19434233 RGD:5508704 NCBI chr MT:10,160...11,537
Ensembl chr MT:10,160...11,537 		JBrowse link
G Nfe2l2 nuclear factor, erythroid 2-like 2 ISO DNA:SNP, haplotype:intron:28312647A>G (rs6726395) (human) RGD PMID:21559389 PMID:23276910 RGD:10412682, RGD:7771558 NCBI chr 3:60,594,239...60,621,785
Ensembl chr 3:60,594,242...60,621,737 		JBrowse link
G Nmnat1 nicotinamide nucleotide adenylyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22842229 NCBI chr 5:159,910,242...159,928,201
Ensembl chr 5:159,910,242...159,928,180 		JBrowse link
G Nqo1 NAD(P)H quinone dehydrogenase 1 ISO DNA:missense mutation, haplotype:cds:c.609C>T (rs1800566) (human) RGD PMID:23276910 RGD:7771558 NCBI chr19:35,295,633...35,310,528
Ensembl chr19:35,295,573...35,310,557 		JBrowse link
G Parp12 poly (ADP-ribose) polymerase family, member 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30742112 NCBI chr 4:67,826,548...67,885,356
Ensembl chr 4:67,839,237...67,883,685 		JBrowse link
G Pde6b phosphodiesterase 6B ISO ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:25741868 NCBI chr14:1,323,310...1,366,450
Ensembl chr14:1,323,310...1,366,450 		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 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360 		JBrowse link
G Ppargc1a PPARG coactivator 1 alpha ISO DNA:snps:exon, 3' utr:g.76874A>G, g.*2381A>G (rs3736265, rs3774923) (human) RGD PMID:23335958 RGD:7241840 NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656 		JBrowse link
G Prom1 prominin 1 ISO ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:10205271 PMID:12657606 PMID:18654668 PMID:20393116 PMID:20859302 More... NCBI chr14:66,989,545...67,094,534
Ensembl chr14:66,990,160...67,094,527 		JBrowse link
G Prph2 peripherin 2 ISO DNA:polymorphism:cds:p.R172W(human)
ClinVar Annotator: match by term: Macular dystrophy
ClinVar Annotator: match by term: Macular degeneration
DNA:deletion:cds:		 ClinVar PMID:279751 PMID:8111389 PMID:8302543 PMID:8485576 PMID:8675410 More... RGD:8553205, RGD:8553231 NCBI chr 9:14,066,149...14,081,454
Ensembl chr 9:14,066,156...14,081,454 		JBrowse link
G Rdh12 retinol dehydrogenase 12 ISO ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:16269441 PMID:19011012 PMID:21151602 PMID:22065924 PMID:25412400 More... NCBI chr 6:98,015,465...98,028,388
Ensembl chr 6:98,015,465...98,028,388 		JBrowse link
G Rlbp1 retinaldehyde binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30742112 NCBI chr 1:133,308,920...133,322,296
Ensembl chr 1:133,308,938...133,322,296 		JBrowse link
G Rom1 retinal outer segment membrane protein 1 ISO ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:28492532 PMID:30718709 NCBI chr 1:205,824,050...205,826,058
Ensembl chr 1:205,824,052...205,826,175 		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:12,566,447...12,628,171
Ensembl chr  X:12,566,645...12,747,882 		JBrowse link
G Serpine1 serpin family E member 1 ISO protein:increased expression:plasma (human) RGD PMID:17675241 RGD:8547755 NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657 		JBrowse link
G Serpinf1 serpin family F member 1 ISO
IEP		 protein:decreased expression:optic choroid (human)
mRNA:altered expression:retina (rat)		 RGD PMID:16019000 PMID:21191149 RGD:8554867, RGD:8655542 NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646 		JBrowse link
G Serping1 serpin family 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 3:69,842,726...69,852,583
Ensembl chr 3:69,842,739...69,852,034 		JBrowse link
G Sirt1 sirtuin 1 ISO mRNA:decreased expression:retina RGD PMID:21890195 RGD:9585773 NCBI chr20:25,307,143...25,329,260
Ensembl chr20:25,306,917...25,329,260 		JBrowse link
G Slc16a8 solute carrier family 16 member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26691988 NCBI chr 7:110,818,274...110,822,069
Ensembl chr 7:110,818,274...110,822,069 		JBrowse link
G Slc19a1 solute carrier family 19 member 1 ISO ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:19390655 PMID:21862674 PMID:23667181 PMID:25741868 PMID:28041643 More... NCBI chr20:11,584,410...11,602,429
Ensembl chr20:11,584,411...11,601,972 		JBrowse link
G Sod1 superoxide dismutase 1 susceptibility ISO protein:increased expression:serum (human) RGD PMID:16844785 PMID:23848218 RGD:1581207, RGD:8655651 NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249 		JBrowse link
G Sod2 superoxide dismutase 2 ISO RGD PMID:17898259 RGD:8158047 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189 		JBrowse link
G Sqstm1 sequestosome 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23922739 NCBI chr10:34,525,517...34,536,685
Ensembl chr10:34,525,519...34,536,673 		JBrowse link
G Srsf10 serine and arginine rich splicing factor 10 ISO protein:increased expression:retina (human) RGD PMID:24098751 RGD:11038792 NCBI chr 5:148,088,765...148,102,964
Ensembl chr 5:148,088,823...148,101,768 		JBrowse link
G Timp3 TIMP metallopeptidase inhibitor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26691988 NCBI chr 7:17,520,827...17,571,871
Ensembl chr 7:17,521,919...17,571,839 		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 PMID:15829498 PMID:15829498 PMID:18172114 PMID:19628747 RGD:7794837, RGD:7794843, RGD:7794842 NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628 		JBrowse link
G Tnfrsf10b TNF receptor superfamily member 10b ISO CTD Direct Evidence: marker/mechanism CTD PMID:21909106 NCBI chr15:44,839,818...44,867,582 JBrowse link
G Tra2b transformer 2 beta homolog ISO protein:increased expression:retina (human) RGD PMID:24098751 RGD:11038792 NCBI chr11:78,788,880...78,807,252
Ensembl chr11:78,788,884...78,807,249 		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 NCBI chr 6:118,198,186...118,252,422
Ensembl chr 6:118,198,201...118,252,418 		JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:9624053 PMID:10090909 PMID:10729113 PMID:10909849 PMID:11402400 More... NCBI chr13:99,837,445...100,503,935
Ensembl chr13:99,837,445...100,503,922 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:15788408 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641 		JBrowse link
G Zfyve26 zinc finger FYVE-type containing 26 ISO ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:16269441 PMID:19011012 PMID:21151602 PMID:25412400 PMID:25494902 More... NCBI chr 6:98,031,874...98,095,538
Ensembl chr 6:98,032,520...98,095,480 		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 subfamily A member 4 ISO ClinVar Annotator: match by term: MACULOPATHY, AGE-RELATED
ClinVar Annotator: match by term: Senile macular degeneration		 ClinVar PMID:9054934 PMID:9295268 PMID:9466990 PMID:9536098 PMID:9666097 More... NCBI chr 2:210,164,813...210,302,069
Ensembl chr 2:210,164,813...210,302,069 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISS MouseDO NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226 		JBrowse link
G Ccr2 C-C motif chemokine receptor 2 ISS MouseDO NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100 		JBrowse link
G Cd46 CD46 molecule ISS MouseDO NCBI chr13:106,575,586...106,606,325 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 chr13:51,395,583...51,410,571
Ensembl chr13:51,369,211...51,410,592 		JBrowse link
G Cfhr4 complement factor H-related 4 ISO ClinVar Annotator: match by term: Age-related macular degeneration ClinVar PMID:16998489 PMID:17367211 PMID:18006700 PMID:20843825 NCBI chr13:51,422,592...51,491,476
Ensembl chr13:51,422,592...51,491,502 		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 1:185,497,815...185,547,380
Ensembl chr 1:185,497,735...185,547,379 		JBrowse link
G Mdm1 Mdm1 nuclear protein ISS MouseDO NCBI chr 7:53,729,603...53,766,034
Ensembl chr 7:53,729,610...53,766,034 		JBrowse link
G Ppargc1a PPARG coactivator 1 alpha ISS MouseDO NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656 		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 OMIM NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932 		JBrowse link
G Cfhr1 complement factor H-related 1 ISO OMIM NCBI chr13:51,395,583...51,410,571
Ensembl chr13:51,369,211...51,410,592 		JBrowse link
G Cfhr4 complement factor H-related 4 ISO ClinVar Annotator: match by term: Age-related macular degeneration 1 ClinVar PMID:25741868 NCBI chr13:51,422,592...51,491,476
Ensembl chr13:51,422,592...51,491,502 		JBrowse link
G Cryba1 crystallin, beta A1 ISS OMIM:603075 MouseDO NCBI chr10:62,608,373...62,614,726
Ensembl chr10:62,608,383...62,614,726 		JBrowse link
G Hmcn1 hemicentin 1 ISO ClinVar Annotator: match by term: Age-related macular degeneration 1
ClinVar Annotator: match by term: MACULOPATHY, AGE-RELATED, 1
ClinVar Annotator: match by OMIM:603075		 OMIM
ClinVar		 PMID:9715689 PMID:14570714 PMID:17216616 PMID:25133751 PMID:25338956 More... NCBI chr13:62,615,461...63,084,524
Ensembl chr13:62,615,461...63,084,524 		JBrowse link
G Vldlr very low density lipoprotein receptor ISS OMIM:603075 MouseDO NCBI chr 1:224,813,539...224,850,400
Ensembl chr 1:224,814,377...224,845,920 		JBrowse link
age related macular degeneration 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tlr4 toll-like receptor 4 ISO OMIM NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628 		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 ClinVar Annotator: match by OMIM:611953 OMIM
ClinVar		 PMID:11815350 PMID:25893795 NCBI chr 3:136,336,923...136,340,796
Ensembl chr 3:136,336,920...136,340,822 		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 ClinVar Annotator: match by term: Age-related macular degeneration 12 OMIM
ClinVar		 PMID:25741868 NCBI chr 8:119,785,726...119,799,431
Ensembl chr 8:119,782,595...119,800,014 		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 factor I susceptibility ISO ClinVar Annotator: match by term: Age-related macular degeneration 13
ClinVar Annotator: match by term: MACULAR DEGENERATION, AGE-RELATED, 13, SUSCEPTIBILITY TO
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:20016463 PMID:20203157 PMID:20513133 PMID:23685748 PMID:24036952 More... NCBI chr 2:218,389,079...218,430,565
Ensembl chr 2:218,387,990...218,430,561 		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 subfamily 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 2:210,164,813...210,302,069
Ensembl chr 2:210,164,813...210,302,069 		JBrowse link
G C2 complement C2 ISO ClinVar Annotator: match by term: Age-related macular degeneration 14
ClinVar Annotator: match by OMIM:615489		 OMIM
ClinVar		 PMID:2249879 PMID:6308626 PMID:8181962 PMID:9670930 PMID:16518403 More... NCBI chr20:3,951,474...3,970,376
Ensembl chr20:3,951,474...3,976,505 		JBrowse link
G Cfb complement factor B ISO ClinVar Annotator: match by term: Age-related macular degeneration 14 OMIM
ClinVar		 PMID:2249879 PMID:6308626 PMID:8181962 PMID:16518403 PMID:16936732 More... NCBI chr20:3,970,643...3,976,510 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 C9 susceptibility ISO ClinVar Annotator: match by term: Macular degeneration, age-related, 15
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:24036952 PMID:28492532 NCBI chr 2:55,573,094...55,621,345
Ensembl chr 2:55,572,992...55,621,338 		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 subfamily 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		 OMIM
ClinVar		 PMID:9054934 PMID:9295268 PMID:9466990 PMID:9536098 PMID:9666097 More... NCBI chr 2:210,164,813...210,302,069
Ensembl chr 2:210,164,813...210,302,069 		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: Age-related macular degeneration 3
ClinVar Annotator: match by OMIM:608895		 OMIM
ClinVar		 PMID:15269314 PMID:16374472 PMID:16652333 PMID:17035250 PMID:19194475 More... NCBI chr 6:120,899,219...120,977,829
Ensembl chr 6:120,899,224...120,977,755 		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 factor H ISO ClinVar Annotator: match by term: Age-related macular degeneration 4 OMIM
ClinVar		 PMID:8072530 PMID:11158219 PMID:11978762 PMID:12424708 PMID:12697737 More... NCBI chr13:51,512,376...51,613,829
Ensembl chr13:51,511,828...51,613,838 		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 ERCC excision repair 6, chromatin remodeling factor susceptibility ISO ClinVar Annotator: match by term: Age-related macular degeneration 5
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9443879 PMID:10767341 PMID:16754848 PMID:17854076 PMID:18414213 More... NCBI chr16:7,764,983...7,835,587
Ensembl chr16:7,765,013...7,835,587 		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 C3 ISO DNA:SNPs, haplotype: :multiple RGD PMID:19899988 RGD:7401252 NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429 		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 chr20:3,970,643...3,976,510 JBrowse link
G Htra1 HtrA serine peptidase 1 susceptibility
severity		 ISO ClinVar Annotator: match by OMIM:610149
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		 PMID:17053108 PMID:17053109 PMID:17568988 PMID:18511946 PMID:19259132 More... RGD:7394722, RGD:7394721, RGD:7394719, RGD:7394713, RGD:7387295 NCBI chr 1:185,497,815...185,547,380
Ensembl chr 1:185,497,735...185,547,379 		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 C3 ISO ClinVar Annotator: match by term: MACULAR DEGENERATION, AGE-RELATED, 9, SUSCEPTIBILITY TO
ClinVar Annotator: match by term: Age-related macular degeneration 9		 OMIM
ClinVar		 PMID:1976733 PMID:7870343 PMID:14639503 PMID:16687714 PMID:17634448 More... NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429 		JBrowse link
basal laminar drusen term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfh complement factor H ISO ClinVar Annotator: match by term: Basal laminar drusen
ClinVar Annotator: match by term: DRUSEN, EARLY ADULT-ONSET, GROUPED
ClinVar Annotator: match by OMIM:126700		 OMIM
ClinVar		 PMID:8072530 PMID:11158219 PMID:11978762 PMID:12424708 PMID:12697737 More... NCBI chr13:51,512,376...51,613,829
Ensembl chr13:51,511,828...51,613,838 		JBrowse link
bestrophinopathy 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: Bestrophinopathy, autosomal recessive
ClinVar Annotator: match by OMIM:611809		 OMIM
ClinVar		 PMID:2133066 PMID:2162627 PMID:9700209 PMID:10788642 PMID:10798642 More... NCBI chr 1:206,629,340...206,646,085
Ensembl chr 1:206,629,500...206,646,063 		JBrowse link
G Crb1 crumbs cell polarity complex component 1 ISO ClinVar Annotator: match by term: Bestrophinopathy, autosomal recessive ClinVar PMID:17128490 PMID:17297678 PMID:23379534 PMID:24033266 PMID:25474345 More... NCBI chr13:50,801,484...50,989,261
Ensembl chr13:50,800,959...50,989,261 		JBrowse link
G Fth1 ferritin heavy chain 1 ISO ClinVar Annotator: match by term: Bestrophinopathy, autosomal recessive ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:206,627,142...206,629,430
Ensembl chr 1:206,627,103...206,725,424 		JBrowse link
G Prph2 peripherin 2 ISO ClinVar Annotator: match by term: Bestrophinopathy, autosomal recessive ClinVar PMID:11139241 PMID:15370544 PMID:16113362 PMID:16799052 PMID:22466463 More... NCBI chr 9:14,066,149...14,081,454
Ensembl chr 9:14,066,156...14,081,454 		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 subfamily A member 4 ISO DNA:mutations:multiple:
ClinVar Annotator: match by term: Benign concentric annular macular dystrophy		 ClinVar PMID:10090887 PMID:10958761 PMID:10958763 PMID:15614537 PMID:18285826 More... RGD:7829711 NCBI chr 2:210,164,813...210,302,069
Ensembl chr 2:210,164,813...210,302,069 		JBrowse link
G Crx cone-rod homeobox ISO ClinVar Annotator: match by term: Bull's eye maculopathy ClinVar PMID:23806086 PMID:24088041 PMID:25259927 PMID:28492532 NCBI chr 1:76,540,141...76,545,818
Ensembl chr 1:76,540,141...76,545,818 		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 ClinVar Annotator: match by term: Congenital hypotrichosis with juvenile macular dystrophy
ClinVar Annotator: match by OMIM:601553
ClinVar Annotator: match by null		 OMIM
ClinVar		 PMID:11544476 PMID:12445216 PMID:14708629 PMID:25741868 PMID:27386845 More... NCBI chr19:34,393,596...34,444,084
Ensembl chr19:34,393,727...34,444,084 		JBrowse link
Doyne honeycomb retinal dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Efemp1 EGF containing fibulin extracellular matrix protein 1 ISO DNA:missense mutation:cds:p.R345W (human)
ClinVar Annotator: match by term: Doyne honeycomb retinal dystrophy
ClinVar Annotator: match by term: Malattia leventinese
ClinVar Annotator: match by OMIM:126600
protein:altered expression: :		 ClinVar
OMIM		 PMID:10369267 PMID:11384588 PMID:11389162 PMID:12242346 PMID:17666404 More... RGD:1598888, RGD:10401794, RGD:10401791 NCBI chr14:102,610,813...102,690,027
Ensembl chr14:102,610,908...102,690,018 		JBrowse link
G Prph2 peripherin 2 ISO ClinVar Annotator: match by term: Doyne honeycomb degeneration of retina ClinVar PMID:9536098 PMID:11139241 PMID:11704030 PMID:16113362 PMID:16799052 More... NCBI chr 9:14,066,149...14,081,454
Ensembl chr 9:14,066,156...14,081,454 		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 ClinVar Annotator: match by term: EEM syndrome
ClinVar Annotator: match by OMIM:225280		 OMIM
ClinVar		 PMID:9536098 PMID:10420194 PMID:13372143 PMID:14708629 PMID:15805154 More... NCBI chr19:34,393,596...34,444,084
Ensembl chr19:34,393,727...34,444,084 		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 chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226 		JBrowse link
G Ccr2 C-C motif chemokine receptor 2 ISO protein:increased expression:monocyte RGD PMID:24142887 RGD:8661224 NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100 		JBrowse link
G Htra1 HtrA serine peptidase 1 ISO DNA:snp:promoter:g.-625G>A (rs11200638) (human) RGD PMID:17426452 RGD:7394693 NCBI chr 1:185,497,815...185,547,380
Ensembl chr 1:185,497,735...185,547,379 		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 2:119,314,007...119,344,703
Ensembl chr 2:119,314,007...119,353,369 		JBrowse link
G Apoe apolipoprotein E susceptibility ISO DNA:polymorphism:exon: RGD PMID:9512153 PMID:16079201 RGD:7495762, RGD:7775015 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932 		JBrowse link
G C3 complement C3 ISO DNA:SNP: :rs2241394 (human) RGD PMID:22174912 RGD:7401249 NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 severity ISO protein:increased expression:aqueous humor of eyeball (human) RGD PMID:20937997 RGD:8548855 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226 		JBrowse link
G Ccr2 C-C motif chemokine receptor 2 ISO protein:increased expression:monocyte: RGD PMID:22789920 RGD:8661669 NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100 		JBrowse link
G Cfi complement factor I ISO DNA:SNPs: :rs10033900, rs13117504 (human) RGD PMID:23900096 RGD:8662315 NCBI chr 2:218,389,079...218,430,565
Ensembl chr 2:218,387,990...218,430,561 		JBrowse link
G Crp C-reactive protein treatment ISO DNA:SNPs: :rs2808635,rs876538(human) RGD PMID:19692124 PMID:17400294 RGD:9491756, RGD:9491775 NCBI chr13:85,131,635...85,175,179
Ensembl chr13:85,124,977...85,175,178 		JBrowse link
G Eln elastin no_association ISO DNA:SNPintron: rs2301995(human) RGD PMID:22065928 PMID:18326737 RGD:7387224, RGD:9585729 NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928 		JBrowse link
G Fgd6 FYVE, RhoGEF and PH domain containing 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27089177 NCBI chr 7:28,597,609...28,712,908
Ensembl chr 7:28,597,609...28,712,456 		JBrowse link
G Flt1 Fms related receptor tyrosine kinase 1 susceptibility
treatment		 ISO DNA:SNP::rs9943922, rs9508034, rs2281827, rs7324510, rs9513115 (human)
protein:increased expression:vitreous:		 RGD PMID:24812550 PMID:22868384 PMID:20609706 RGD:10402108, RGD:10402118, RGD:10402116 NCBI chr12:7,296,899...7,468,626
Ensembl chr12:7,297,292...7,468,626 		JBrowse link
G Gstm1 glutathione S-transferase mu 1 susceptibility ISO DNA:deletion, haplotype:: (human) RGD PMID:28221473 RGD:12792224 NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411 		JBrowse link
G Gstp1 glutathione S-transferase pi 1 susceptibility ISO DNA:polymorphism::(rs1695)(human)
DNA:deletion, haplotype:: (human)		 RGD PMID:22487578 PMID:28221473 RGD:8547932, RGD:12792224 NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226 		JBrowse link
G Gstt1 glutathione S-transferase theta 1 susceptibility ISO DNA:deletion, haplotype:: (human) RGD PMID:28221473 RGD:12792224 NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585 		JBrowse link
G Htra1 HtrA serine peptidase 1 susceptibility ISO DNA:snp:promoter:g.-625G>A (rs11200638) (human)
DNA:silent mutations:exon:g.+102C>T, g.+108G>T/C (rs1049331, rs2293870) (human)		 RGD PMID:22800422 PMID:18164066 RGD:7387322, RGD:7394724 NCBI chr 1:185,497,815...185,547,380
Ensembl chr 1:185,497,735...185,547,379 		JBrowse link
G Igf1 insulin-like growth factor 1 ISO protein:increased expression:aqueous humor of eyeball:
mRNA,protein:increased expression:endothelial cell:		 RGD PMID:24106111 PMID:12714661 RGD:10045867, RGD:10045893 NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296 		JBrowse link
G Igf1r insulin-like growth factor 1 receptor ISO mRNA,protein:increased expression:endothelial cell: RGD PMID:12714661 RGD:10045893 NCBI chr 1:121,549,839...121,838,545
Ensembl chr 1:121,550,743...121,831,777 		JBrowse link
G Igfbp2 insulin-like growth factor binding protein 2 ISO protein:increased expression:aqueous humor of eyeball: RGD PMID:24106111 RGD:10045867 NCBI chr 9:74,415,574...74,442,945
Ensembl chr 9:74,415,546...74,442,937 		JBrowse link
G Il6 interleukin 6 ISO protein:increased expression:aqueous humor: RGD PMID:22490043 RGD:7829793 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
G Kdr kinase insert domain receptor susceptibility ISO DNA:SNP: :rs2071559(human) RGD PMID:22919317 RGD:8549752 NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018 		JBrowse link
G Loxl1 lysyl oxidase-like 1 ISO DNA:SNP:exon:p.R141L (human) RGD PMID:21236409 RGD:7387334 NCBI chr 8:58,692,592...58,716,356
Ensembl chr 8:58,692,593...58,716,356 		JBrowse link
G Mapk8 mitogen-activated protein kinase 8 ISO RGD PMID:23341606 RGD:10412675 NCBI chr16:8,638,897...8,721,960
Ensembl chr16:8,638,924...8,721,981 		JBrowse link
G Mdm1 Mdm1 nuclear protein ISO DNA, mRNA:nonsense mutation, decreased expression:retina RGD PMID:18805803 RGD:10412062 NCBI chr 7:53,729,603...53,766,034
Ensembl chr 7:53,729,610...53,766,034 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:SNP:cds:rs1801133(human) RGD PMID:22065928 RGD:7387224 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797 		JBrowse link
G Nos3 nitric oxide synthase 3 susceptibility ISO DNA:snp:cds:c.894G>T (rs1799983) (human) RGD PMID:23276910 RGD:7771558 NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166 		JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO protein:increased expression:plasma: RGD PMID:24334449 RGD:10449444 NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984 		JBrowse link
G Pdgfrb platelet derived growth factor receptor beta ISO RGD PMID:22773904 RGD:10053644 NCBI chr18:54,500,002...54,538,843
Ensembl chr18:54,499,964...54,538,843 		JBrowse link
G Pon1 paraoxonase 1 susceptibility ISO protein:decreased activity:serum (human)
DNA:missense mutations:cds:p.L55M, p.Q192R (human)		 RGD PMID:19155603 PMID:20042177 RGD:8547556, RGD:8547668 NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360 		JBrowse link
G Sod2 superoxide dismutase 2 susceptibility ISO DNA:polymorphism:cds:p.V16A(rs4880)(human) RGD PMID:18573360 RGD:8158102 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189 		JBrowse link
G Tlr2 toll-like receptor 2 ISO mRNA:increased expression:peripheral blood mononuclear cell: RGD PMID:23946637 RGD:8552827 NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630 		JBrowse link
G Tlr3 toll-like receptor 3 ISO mRNA:increased expression:peripheral blood mononuclear cell: RGD PMID:23946637 RGD:8552827 NCBI chr16:46,821,980...46,837,900
Ensembl chr16:46,822,039...46,836,545 		JBrowse link
G Vegfa vascular endothelial growth factor A treatment ISO DNA:SNP: :rs943080(human)
DNA:SNP: :rs3025000(human)		 RGD PMID:23745581 PMID:23149126 RGD:7483607, RGD:7483627 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641 		JBrowse link
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: Macular degeneration, early-onset OMIM
ClinVar		 PMID:24899048 PMID:25741868 PMID:28166811 PMID:28492532 PMID:29926239 NCBI chr18:51,499,737...51,703,976
Ensembl chr18:51,499,737...51,703,976 		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:16199547 PMID:17564970 PMID:19177532 PMID:19201763 PMID:21990111 More... NCBI chr 2:123,822,042...123,882,913
Ensembl chr 2:123,816,614...123,857,971 		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 chr10:93,342,435...93,356,334
Ensembl chr10:93,310,977...93,356,329 		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 chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226 		JBrowse link
G Clu clusterin ISO associated with Diabetes Mellitus, Type 2;protein:decreased expression:vitreous humor RGD PMID:23568601 RGD:9068396 NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315 		JBrowse link
G Epo erythropoietin severity ISO RGD PMID:20664492 RGD:10400883 NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946 		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 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221 		JBrowse link
G Flt1 Fms related receptor tyrosine kinase 1 ISO associated with Branch Retinal Vein Occlusion; protein:increased expression:aqueous humor: RGD PMID:24894397 RGD:10402117 NCBI chr12:7,296,899...7,468,626
Ensembl chr12:7,297,292...7,468,626 		JBrowse link
G Il6 interleukin 6 ISO associated with Retinal vein occlusion;protein:increased expression:vitreous: RGD PMID:22066978 RGD:7829760 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
G Kdr kinase insert domain receptor ISO associated with retinal vein occlusion;protein:increased expression:vitreous humor RGD PMID:23411880 RGD:8549772 NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018 		JBrowse link
G Ndp norrin cystine knot growth factor NDP ISO CTD Direct Evidence: marker/mechanism CTD PMID:29654250 NCBI chr  X:5,796,487...5,820,934
Ensembl chr  X:5,796,487...5,820,934 		JBrowse link
G Nos3 nitric oxide synthase 3 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 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166 		JBrowse link
G Serpinf1 serpin family 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 chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO associated with retinal vein occlusion;protein:increased expression:vitreous humor
CTD Direct Evidence: marker/mechanism
associated with Diabetes Mellitus;protein:increased expression:aqueous humor		 CTD PMID:20577866 PMID:23411880 PMID:17505145 RGD:8549772, RGD:8655594 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641 		JBrowse link
occult macular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 4:148,975,597...148,988,693
Ensembl chr 4:148,980,611...148,985,773 		JBrowse link
G Rp1l1 RP1 like 1 ISO ClinVar Annotator: match by term: Occult macular dystrophy
ClinVar Annotator: match by OMIM:613587		 OMIM
ClinVar		 PMID:12724644 PMID:20826268 PMID:22277662 PMID:22504327 PMID:23281133 More... NCBI chr15:38,259,595...38,271,269
Ensembl chr15:38,259,928...38,270,316 		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 chr18:26,728,246...26,860,911
Ensembl chr18:26,728,485...26,860,910 		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 1:185,497,815...185,547,380
Ensembl chr 1:185,497,735...185,547,379 		JBrowse link
G Mapkapk3 MAPK activated protein kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:107,929,754...107,963,638
Ensembl chr 8:107,929,762...107,963,568 		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
ClinVar Annotator: match by term: Patterned dystrophy of retinal pigment epithelium
CTD Direct Evidence: marker/mechanism
DNA:mutation:cds:p.G167D(human)
DNA:mutation:splice junction:
DNA:deletion,insertion:cds:		 ClinVar
CTD		 PMID:1684223 PMID:7493155 PMID:7825692 PMID:7880786 PMID:8015786 More... RGD:8553221, RGD:8554864, RGD:8553238, RGD:8553236 NCBI chr 9:14,066,149...14,081,454
Ensembl chr 9:14,066,156...14,081,454 		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 ClinVar Annotator: match by term: Macular dystrophy, patterned, 1 OMIM
ClinVar		 PMID:1684223 PMID:7493155 PMID:7710395 PMID:7825692 PMID:7880786 More... NCBI chr 9:14,066,149...14,081,454
Ensembl chr 9:14,066,156...14,081,454 		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 ISO ClinVar Annotator: match by term: Macular dystrophy, patterned, 2 ClinVar
OMIM		 PMID:5442145 PMID:25741868 PMID:26691986 PMID:28041643 PMID:28492532 NCBI chr18:26,728,246...26,860,911
Ensembl chr18:26,728,485...26,860,910 		JBrowse link
patterned macular dystrophy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mapkapk3 MAPK activated protein kinase 3 ISO ClinVar Annotator: match by term: MACULAR DYSTROPHY, PATTERNED, 3 ClinVar
OMIM		 PMID:26744326 NCBI chr 8:107,929,754...107,963,638
Ensembl chr 8:107,929,762...107,963,568 		JBrowse link
preretinal fibrosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Timp1 TIMP metallopeptidase inhibitor 1 ISO RGD PMID:11004090 RGD:2312481 NCBI chr  X:1,212,969...1,217,714
Ensembl chr  X:1,212,972...1,217,664 		JBrowse link
G Timp2 TIMP metallopeptidase inhibitor 2 ISO RGD PMID:11004090 RGD:2312481 NCBI chr10:103,541,199...103,590,611 JBrowse link
G Timp3 TIMP metallopeptidase inhibitor 3 ISO RGD PMID:11004090 RGD:2312481 NCBI chr 7:17,520,827...17,571,871
Ensembl chr 7:17,521,919...17,571,839 		JBrowse link
retinal drusen term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfh complement factor H susceptibility ISO DNA:SNPs: :p.Y402H, rs1410996(human)
DNA:mutations:multiple:		 RGD PMID:18936151 PMID:22491393 RGD:7365005, RGD:7365010 NCBI chr13:51,512,376...51,613,829
Ensembl chr13:51,511,828...51,613,838 		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 chr 7:16,216,055...17,808,790
Ensembl chr 7:17,376,372...17,808,790 		JBrowse link
G Timp3 TIMP metallopeptidase inhibitor 3 ISO ClinVar Annotator: match by term: Sorsby fundus dystrophy OMIM
ClinVar		 PMID:7148944 PMID:7894485 PMID:8634721 PMID:8639088 PMID:8919688 More... NCBI chr 7:17,520,827...17,571,871
Ensembl chr 7:17,521,919...17,571,839 		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 subfamily A member 4 ISO ClinVar Annotator: match by term: Stargardt disease
ClinVar Annotator: match by term: STGD
ClinVar Annotator: match by term: STARGARDT DISEASE
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Stargardt disease 1		 ClinVar
CTD		 PMID:9054934 PMID:9295268 PMID:9466990 PMID:9490294 PMID:9503029 More... NCBI chr 2:210,164,813...210,302,069
Ensembl chr 2:210,164,813...210,302,069 		JBrowse link
G Bcs1l BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone ISO ClinVar Annotator: match by term: Stargardt disease ClinVar PMID:12215968 PMID:12910490 PMID:17314340 PMID:19389488 PMID:19508421 More... NCBI chr 9:76,164,925...76,168,940
Ensembl chr 9:76,164,932...76,168,938 		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 chr 1:206,629,340...206,646,085
Ensembl chr 1:206,629,500...206,646,063 		JBrowse link
G Cngb3 cyclic nucleotide gated channel subunit beta 3 ISO ClinVar Annotator: match by term: STGD ClinVar PMID:15161866 PMID:16379026 PMID:22975760 PMID:22995991 PMID:24504161 More... NCBI chr 5:32,746,988...32,995,121
Ensembl chr 5:32,746,988...32,995,121 		JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Stargardt disease ClinVar NCBI chr 7:129,098,489...129,127,620
Ensembl chr 7:129,098,786...129,127,546 		JBrowse link
G Crb1 crumbs cell polarity complex component 1 ISO ClinVar Annotator: match by term: Stargardt disease ClinVar PMID:10508521 PMID:22065545 PMID:23379534 PMID:25412400 PMID:26957898 More... NCBI chr13:50,801,484...50,989,261
Ensembl chr13:50,800,959...50,989,261 		JBrowse link
G Crx cone-rod homeobox ISO ClinVar Annotator: match by term: Stargardt disease ClinVar PMID:30718709 NCBI chr 1:76,540,141...76,545,818
Ensembl chr 1:76,540,141...76,545,818 		JBrowse link
G Elovl4 ELOVL fatty acid elongase 4 ISS OMIM:248200 | OMIM:600110 | OMIM:603786 MouseDO NCBI chr 8:84,702,916...84,729,466
Ensembl chr 8:84,702,362...84,729,697 		JBrowse link
G Flvcr1 FLVCR heme transporter 1 ISO ClinVar Annotator: match by term: Stargardt disease ClinVar PMID:30718709 NCBI chr13:102,586,263...102,608,647
Ensembl chr13:102,586,257...102,608,661 		JBrowse link
G Kcnv2 potassium voltage-gated channel modifier subfamily V member 2 ISO ClinVar Annotator: match by term: Stargardt disease ClinVar PMID:8333273 PMID:18235024 PMID:30718709 NCBI chr 1:224,999,552...225,014,062
Ensembl chr 1:224,999,552...225,014,062 		JBrowse link
G Prom1 prominin 1 ISS
ISO		 OMIM:248200 | OMIM:600110 | OMIM:603786
ClinVar Annotator: match by term: Stargardt disease		 MouseDO
ClinVar		 PMID:10205271 PMID:12657606 PMID:18654668 PMID:20393116 PMID:20859302 More... NCBI chr14:66,989,545...67,094,534
Ensembl chr14:66,990,160...67,094,527 		JBrowse link
G Prph2 peripherin 2 ISO 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 chr 9:14,066,149...14,081,454
Ensembl chr 9:14,066,156...14,081,454 		JBrowse link
G Snrnp200 small nuclear ribonucleoprotein U5 subunit 200 ISO ClinVar Annotator: match by term: Stargardt disease ClinVar PMID:30718709 NCBI chr 3:114,428,854...114,458,194
Ensembl chr 3:114,428,854...114,458,182 		JBrowse link
G Tulp1 TUB like protein 1 ISO ClinVar Annotator: match by term: Stargardt disease ClinVar PMID:25741868 NCBI chr20:6,412,170...6,424,312
Ensembl chr20:6,412,171...6,424,073 		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 subfamily A member 4 susceptibility
treatment		 ISO ClinVar Annotator: match by term: Stargardt disease 1
ClinVar Annotator: match by term: Stargardt Disease, Recessive
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: STGD
ClinVar Annotator: match by OMIM:248200
DNA:mutation:exon:c.2041C>T(human)
DNA:mutations:multiple:		 OMIM
ClinVar		 PMID:9054934 PMID:9295268 PMID:9466990 PMID:9490294 PMID:9503029 More... RGD:7829716, RGD:7815046, RGD:7815046, RGD:7815045 NCBI chr 2:210,164,813...210,302,069
Ensembl chr 2:210,164,813...210,302,069 		JBrowse link
G Bcs1l BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone ISO ClinVar Annotator: match by term: Fundus flavimaculatus ClinVar PMID:12215968 PMID:12910490 PMID:17314340 PMID:19389488 PMID:19508421 More... NCBI chr 9:76,164,925...76,168,940
Ensembl chr 9:76,164,932...76,168,938 		JBrowse link
G Cngb3 cyclic nucleotide gated channel subunit beta 3 ISO ClinVar Annotator: match by term: Stargardt Disease, Recessive
ClinVar Annotator: match by term: Stargardt disease 1		 ClinVar PMID:1347967 PMID:10888875 PMID:10958649 PMID:11124331 PMID:12815043 More... NCBI chr 5:32,746,988...32,995,121
Ensembl chr 5:32,746,988...32,995,121 		JBrowse link
G Kcnv2 potassium voltage-gated channel modifier subfamily V member 2 ISO ClinVar Annotator: match by term: Fundus flavimaculatus ClinVar PMID:8333273 PMID:18235024 PMID:30718709 NCBI chr 1:224,999,552...225,014,062
Ensembl chr 1:224,999,552...225,014,062 		JBrowse link
G Mfsd8 major facilitator superfamily domain containing 8 ISO ClinVar Annotator: match by term: Stargardt disease 1 ClinVar PMID:25333361 PMID:28041643 PMID:28492532 PMID:28586915 NCBI chr 2:123,822,042...123,882,913
Ensembl chr 2:123,816,614...123,857,971 		JBrowse link
G Prom1 prominin 1 ISO ClinVar Annotator: match by term: Fundus flavimaculatus ClinVar PMID:10205271 PMID:12657606 PMID:18654668 PMID:20393116 PMID:20859302 More... NCBI chr14:66,989,545...67,094,534
Ensembl chr14:66,990,160...67,094,527 		JBrowse link
G Prph2 peripherin 2 ISO ClinVar Annotator: match by term: Fundus flavimaculatus ClinVar PMID:279751 PMID:4142662 PMID:7493155 PMID:7519821 PMID:7825692 More... NCBI chr 9:14,066,149...14,081,454
Ensembl chr 9:14,066,156...14,081,454 		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 4:148,975,597...148,988,693
Ensembl chr 4:148,980,611...148,985,773 		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 subfamily A member 4 ISO ClinVar Annotator: match by term: Stargardt Disease 3 ClinVar PMID:25741868 NCBI chr 2:210,164,813...210,302,069
Ensembl chr 2:210,164,813...210,302,069 		JBrowse link
G Elovl4 ELOVL fatty acid elongase 4 ISO ClinVar Annotator: match by term: Stargardt Disease 3 OMIM
ClinVar		 PMID:11138005 PMID:15028284 PMID:15557430 PMID:22948568 PMID:23509295 More... NCBI chr 8:84,702,916...84,729,466
Ensembl chr 8:84,702,362...84,729,697 		JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 ISO mRNA,protein:increased expression:optic cup: RGD PMID:22199241 RGD:10402074 NCBI chr16:66,492,445...66,546,731
Ensembl chr16:66,494,042...66,547,350 		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 8:84,702,916...84,729,466
Ensembl chr 8:84,702,362...84,729,697 		JBrowse link
G Prom1 prominin 1 ISO ClinVar Annotator: match by term: Stargardt disease 4
ClinVar Annotator: match by term: Stargardt Disease, Dominant		 OMIM
ClinVar		 PMID:10205271 PMID:12657606 PMID:18654668 PMID:20393116 PMID:20859302 More... NCBI chr14:66,989,545...67,094,534
Ensembl chr14:66,990,160...67,094,527 		JBrowse link
Subretinal Fibrosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il6 interleukin 6 ISO RGD PMID:24790857 RGD:10402815 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
G Il6r interleukin 6 receptor treatment ISO RGD PMID:24790857 RGD:10402815 NCBI chr 2:175,289,157...175,347,719
Ensembl chr 2:175,298,686...175,347,536 		JBrowse link
vitelliform macular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Best1 bestrophin 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Vitelliform dystrophy		 CTD
ClinVar		 PMID:10798642 PMID:17110374 PMID:21273940 PMID:21330666 PMID:22183385 More... NCBI chr 1:206,629,340...206,646,085
Ensembl chr 1:206,629,500...206,646,063 		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 1:185,497,815...185,547,380
Ensembl chr 1:185,497,735...185,547,379 		JBrowse link
G Impg1 interphotoreceptor matrix proteoglycan 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:81,243,624...81,389,722
Ensembl chr 8:81,243,624...81,389,722 		JBrowse link
G Impg2 interphotoreceptor matrix proteoglycan 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr11:44,318,836...44,418,382
Ensembl chr11:44,318,836...44,418,382 		JBrowse link
G Prph2 peripherin 2 ISO DNA:polymorphism:cds:p.Y141C(human)
ClinVar Annotator: match by term: Vitelliform dystrophy
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Vitelliform macular dystrophy
DNA:deletion:cds:112del(human)
DNA:polymorphisms,haplotype:cds:p.E304Q,G338D(human)		 ClinVar
CTD		 PMID:4142662 PMID:7493155 PMID:7519821 PMID:7862413 PMID:8015786 More... RGD:8553221, RGD:8554859, RGD:8553239 NCBI chr 9:14,066,149...14,081,454
Ensembl chr 9:14,066,156...14,081,454 		JBrowse link
Vitelliform Macular Dystrophy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh9 myosin, heavy chain 9 ISO ClinVar Annotator: match by term: Macular dystrophy, atypical vitelliform ClinVar PMID:24033266 PMID:24130771 PMID:25077172 PMID:26467025 PMID:28492532 More... NCBI chr 7:109,343,718...109,424,457
Ensembl chr 7:109,343,706...109,424,457 		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: Best vitelliform macular dystrophy, multifocal
ClinVar Annotator: match by term: Vitelliform macular dystrophy type 2		 ClinVar
OMIM		 PMID:838599 PMID:2162627 PMID:9662395 PMID:9700209 PMID:10331951 More... NCBI chr 1:206,629,340...206,646,085
Ensembl chr 1:206,629,500...206,646,063 		JBrowse link
G Fth1 ferritin heavy chain 1 ISO ClinVar Annotator: match by term: Vitelliform macular dystrophy type 2 ClinVar PMID:10453731 PMID:11713080 PMID:14615048 PMID:17898294 PMID:25741868 More... NCBI chr 1:206,627,142...206,629,430
Ensembl chr 1:206,627,103...206,725,424 		JBrowse link
G Impg1 interphotoreceptor matrix proteoglycan 1 ISO ClinVar Annotator: match by term: Vitelliform macular dystrophy type 2 ClinVar PMID:25741868 NCBI chr 8:81,243,624...81,389,722
Ensembl chr 8:81,243,624...81,389,722 		JBrowse link
G Impg2 interphotoreceptor matrix proteoglycan 2 ISO ClinVar Annotator: match by term: Vitelliform macular dystrophy type 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr11:44,318,836...44,418,382
Ensembl chr11:44,318,836...44,418,382 		JBrowse link
G Prph2 peripherin 2 ISO ClinVar Annotator: match by term: Vitelliform macular dystrophy type 2
ClinVar Annotator: match by term: Best vitelliform macular dystrophy, multifocal		 ClinVar PMID:4142662 PMID:7493155 PMID:7519821 PMID:7862413 PMID:8015786 More... NCBI chr 9:14,066,149...14,081,454
Ensembl chr 9:14,066,156...14,081,454 		JBrowse link
Vitelliform Macular Dystrophy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prph2 peripherin 2 ISO ClinVar Annotator: match by term: Macular dystrophy, vitelliform, adult-onset
ClinVar Annotator: match by term: FOVEOMACULAR DYSTROPHY, ADULT-ONSET, WITH OR WITHOUT CHOROIDAL NEOVASCULARIZATION
ClinVar Annotator: match by term: vitelliform macular dystrophy 3
ClinVar Annotator: match by term: Adult onset vitelliform dystrophy
ClinVar Annotator: match by term: MACULAR DYSTROPHY, VITELLIFORM, 3		 OMIM
ClinVar		 PMID:4142662 PMID:7519821 PMID:7862413 PMID:8485576 PMID:8675410 More... NCBI chr 9:14,066,149...14,081,454
Ensembl chr 9:14,066,156...14,081,454 		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: Macular dystrophy, vitelliform, 4 ClinVar
OMIM		 PMID:23993198 PMID:25741868 PMID:28492532 PMID:30688845 NCBI chr 8:81,243,624...81,389,722
Ensembl chr 8:81,243,624...81,389,722 		JBrowse link
Vitelliform Macular Dystrophy 5 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: Macular dystrophy, vitelliform, 5 ClinVar
OMIM		 PMID:20673862 PMID:25085631 PMID:25741868 PMID:26355662 PMID:28492532 More... NCBI chr11:44,318,836...44,418,382
Ensembl chr11:44,318,836...44,418,382 		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 OMIM:300834 OMIM
ClinVar		 PMID:12160730 NCBI chr  X:12,566,447...12,628,171
Ensembl chr  X:12,566,645...12,747,882 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    Diseases of the Aged 1289
      macular degeneration 143
        Concentric Annular Macular Dystrophy 2
        Geographic Atrophy 3
        Kuhnt-Junius degeneration + 32
        Macular Degeneration, Early-Onset 1
        Macular Dystrophy with Central Cone Involvement 1
        Macular Dystrophy, Retinal, 3 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 + 69
        ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome 1
        macular retinal edema + 12
        occult macular dystrophy 2
        patterned macular dystrophy + 4
        vitelliform macular dystrophy + 7
Path 2
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      nervous system disease 12097
        sensory system disease 5611
          eye disease 2733
            eye degenerative disease 508
              retinal degeneration 506
                macular degeneration 143
                  Concentric Annular Macular Dystrophy 2
                  Geographic Atrophy 3
                  Kuhnt-Junius degeneration + 32
                  Macular Degeneration, Early-Onset 1
                  Macular Dystrophy with Central Cone Involvement 1
                  Macular Dystrophy, Retinal, 3 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 + 69
                  ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome 1
                  macular retinal edema + 12
                  occult macular dystrophy 2
                  patterned macular dystrophy + 4
                  vitelliform macular dystrophy + 7
paths to the root