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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
 xref: EFO:0001365;   EFO:0009201;   EFO:0009606;   EFO:0020937;   MESH:D008268;   MIM:620762;   MONDO:0003004;   NCI:C123330;   ORDO:279
For additional species annotation, visit the Alliance of Genome Resources.

GViewer not supported for the selected species.

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 RGD
ClinVar		 PMID:9054934 PMID:9295268 PMID:9466990 PMID:9536098 PMID:9781034 More... RGD:1598551 NCBI chrNW_004624742:3,536,591...3,661,706
Ensembl chrNW_004624742:3,536,591...3,661,468 		JBrowse link
G Adipor1 adiponectin receptor 1 ISO DNA:SNP:intron:c.-95+191A>G (rs10753929) (human) RGD PMID:22387454 RGD:8694465 NCBI chrNW_004624807:7,896,508...7,912,088 JBrowse link
G Apoe apolipoprotein E no_association
susceptibility		 ISO DNA:polymorphism:exon:
DNA:haplotype:cds:
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:10859513 PMID:12567264 PMID:16079201 PMID:16453339 PMID:19384966 RGD:7495761 RGD:7771552 RGD:7771587 RGD:7775015 NCBI chrNW_004624907:1,752,322...1,755,308 JBrowse link
G Atf6 activating transcription factor 6 ISO ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:28041643 NCBI chrNW_004624826:189,899...412,540
Ensembl chrNW_004624826:190,131...412,197 		JBrowse link
G Bad BCL2 associated agonist of cell death severity ISO protein:increased expression:vitreous humor RGD PMID:22773904 RGD:10053644 NCBI chrNW_004624767:22,025,721...22,037,283
Ensembl chrNW_004624767:22,026,133...22,037,277 		JBrowse link
G Bax BCL2 associated X, apoptosis regulator ISO RGD PMID:20054800 RGD:10043353 NCBI chrNW_004624832:5,050,222...5,068,565
Ensembl chrNW_004624832:5,050,222...5,055,506 		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 chrNW_004624750:21,759,412...21,763,608
Ensembl chrNW_004624750:21,759,495...21,766,679 		JBrowse link
G Best1 bestrophin 1 ISO ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:10394929 PMID:10798642 PMID:11241846 PMID:12565808 PMID:20381869 More... NCBI chrNW_004624926:471,073...478,436
Ensembl chrNW_004624926:472,176...478,214 		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 chrNW_004624731:15,262,480...15,269,196
Ensembl chrNW_004624731:15,263,274...15,269,743 		JBrowse link
G C1qtnf5 C1q and TNF related 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16123441 NCBI chrNW_004624784:14,707,453...14,709,609
Ensembl chrNW_004624784:14,707,453...14,708,954 		JBrowse link
G C2 complement C2 no_association
susceptibility		 ISO DNA:missense mutation, snp:cds, intron:p.E318D, c.1360+62G>T (rs9332739, rs547154) (human)
ClinVar Annotator: match by term: Macular degeneration
DNA:missense mutation:cds:p.E318D (rs9332739) (human)
DNA:missense mutation, haplotype:cds:p.E318D (rs9332739) (human)
DNA:polymorphism
DNA:SNP:intron:c.1360+62G>T (rs547154) (human)
DNA:SNP, haplotype:intron:c.1360+62G>T (rs547154) (human)		 RGD
ClinVar		 PMID:1577763 PMID:2249879 PMID:6308626 PMID:8181962 PMID:9536098 More... RGD:1600582 RGD:7411691 RGD:7411693 RGD:7411694 RGD:7411713 RGD:7411720 RGD:7411731 NCBI chrNW_004624754:24,316,778...24,327,065
Ensembl chrNW_004624754:24,317,058...24,322,656 		JBrowse link
G C3 complement C3 ISO ClinVar Annotator: match by term: Macular degeneration ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624828:3,773,816...3,798,077
Ensembl chrNW_004624828:3,770,221...3,797,946 		JBrowse link
G C9 complement C9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24036952 NCBI chrNW_004624759:15,534,743...15,623,767
Ensembl chrNW_004624759:15,534,660...15,624,381 		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:28492532 PMID:30718709 NCBI chrNW_004624893:945,378...968,041
Ensembl chrNW_004624893:945,436...970,431 		JBrowse link
G Cacng3 calcium voltage-gated channel auxiliary subunit gamma 3 susceptibility ISO DNA:SNPs: : RGD PMID:21169531 RGD:13524556 NCBI chrNW_004624782:9,319,318...9,408,620
Ensembl chrNW_004624782:9,319,277...9,408,821 		JBrowse link
G Cd36 CD36 molecule (CD36 blood group) ISO RGD PMID:18288886 RGD:2307226 NCBI chrNW_004624739:29,341,620...29,441,232
Ensembl chrNW_004624739:29,407,568...29,441,333 		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 chrNW_004624746:17,616,296...17,659,021
Ensembl chrNW_004624746:17,616,940...17,658,548 		JBrowse link
G Cdkn1a cyclin dependent kinase inhibitor 1A ISO RGD PMID:20054800 RGD:10043353 NCBI chrNW_004624754:21,109,074...21,115,869
Ensembl chrNW_004624754:21,108,874...21,115,885 		JBrowse link
G Cdkn1b cyclin dependent kinase inhibitor 1B ISO RGD PMID:20054800 RGD:10043353 NCBI chrNW_004624752:25,202,474...25,207,107
Ensembl chrNW_004624752:25,203,474...25,207,114 		JBrowse link
G Cerkl CERK like autophagy regulator ISO ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:25741868 NCBI chrNW_004624844:3,354,823...3,474,036 JBrowse link
G Cfb complement factor B no_association
susceptibility		 ISO DNA:SNPs: :multiple
ClinVar Annotator: match by term: Macular degeneration
DNA:missense mutations:cds:p.L9H, p.R32Q (rs4151667, rs641153) (human)
DNA:snp:intron:c.1169-69T>C (rs541862) (human)		 RGD
ClinVar		 PMID:1577763 PMID:2249879 PMID:6308626 PMID:8181962 PMID:9616367 More... RGD:7411694 RGD:7411713 RGD:7411731 NCBI chrNW_004624754:24,310,344...24,316,482
Ensembl chrNW_004624754:24,310,247...24,317,366 		JBrowse link
G Cfh complement factor H susceptibility
no_association
disease_progression		 ISO DNA:SNP:cds:p.Y402H(human)
ClinVar Annotator: match by term: Macular degeneration
DNA:SNP: :rs1061170(human)
DNA:SNP: :rs1410996(human)
DNA:SNP: :rs1061170 (Y402H)(human)		 RGD
ClinVar		 PMID:16379025 PMID:16710702 PMID:16877387 PMID:17456821 PMID:23362846 More... RGD:7364999 RGD:7365021 RGD:7365022 RGD:7365034 RGD:7365035 RGD:7365036 NCBI chrNW_004624798:3,332,549...3,414,435 JBrowse link
G Cfi complement factor I disease_progression
no_association		 ISO DNA:SNP:intron:g.110659067T>C (rs10033900) (human)
CTD Direct Evidence: marker/mechanism
DNA:SNP:cds:c.345G>A (rs2285714) (human)
DNA:missense mutation:cds:p.G119R (human)		 RGD
CTD		 PMID:22815349 PMID:23685748 PMID:23900096 PMID:24036952 PMID:26691988 RGD:8662313 RGD:8662315 RGD:8662321 NCBI chrNW_004624830:111,123...151,668
Ensembl chrNW_004624830:111,004...151,514 		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 chrNW_004624761:18,992,372...19,004,247
Ensembl chrNW_004624761:18,992,384...19,004,202 		JBrowse link
G Cnga3 cyclic nucleotide gated channel subunit alpha 3 ISO ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:11536077 PMID:17693388 PMID:18445228 PMID:23972307 PMID:24033266 More... NCBI chrNW_004624749:3,458,997...3,482,697
Ensembl chrNW_004624749:3,458,991...3,483,003 		JBrowse link
G Cngb3 cyclic nucleotide gated channel subunit beta 3 ISO ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:9536098 PMID:17576681 PMID:28041643 PMID:28492532 PMID:28795510 NCBI chrNW_004624744:5,059,957...5,209,144
Ensembl chrNW_004624744:5,042,494...5,207,818 		JBrowse link
G Col18a1 collagen type XVIII alpha 1 chain ISO ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:12415512 PMID:19160445 PMID:19390655 PMID:20799329 PMID:21862674 More... NCBI chrNW_004624745:30,754,654...30,792,352
Ensembl chrNW_004624745:30,754,820...30,791,426 		JBrowse link
G Crb1 crumbs cell polarity complex component 1 ISO ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:10508521 PMID:11389483 PMID:12700176 PMID:15024725 PMID:15459956 More... NCBI chrNW_004624798:2,861,481...2,999,387
Ensembl chrNW_004624798:2,861,520...2,999,697 		JBrowse link
G Crp C-reactive protein susceptibility ISO protein:increased expression:serum: RGD PMID:16225921 PMID:20346514 RGD:9491758 RGD:9491760 NCBI chrNW_004624794:1,531,555...1,533,804
Ensembl chrNW_004624794:1,531,571...1,533,804 		JBrowse link
G Crx cone-rod homeobox ISO ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:28041643 NCBI chrNW_004624832:6,103,530...6,108,129
Ensembl chrNW_004624832:6,104,229...6,108,146 		JBrowse link
G Cryab crystallin alpha B treatment ISO RGD PMID:25483086 RGD:13503350 NCBI chrNW_004624784:7,074,590...7,093,471
Ensembl chrNW_004624784:7,074,590...7,093,054 		JBrowse link
G Cx3cr1 C-X3-C motif chemokine receptor 1 no_association ISO DNA:missense mutation:cds:p.T280M (human)
DNA:missense mutations:cds:p.V249I, p.T280M (human)
DNA:missense mutation:cds:p.V249I (human)
DNA:missense mutations:cds:p.V249I, p.T280M (rs3732379, rs3732378) (human)		 RGD PMID:15208270 PMID:15944936 PMID:17652758 PMID:22816662 PMID:25050486 RGD:9479078 RGD:9491385 RGD:9491390 RGD:9491392 RGD:9491395 NCBI chrNW_004624731:1,705,953...1,719,452
Ensembl chrNW_004624731:1,706,043...1,719,452 		JBrowse link
G Efemp1 EGF containing fibulin extracellular matrix protein 1 no_association ISO protein:altered expression: : RGD PMID:12242346 PMID:17666404 PMID:17872905 RGD:10401788 RGD:10401789 RGD:10401794 NCBI chrNW_004624833:5,654,805...5,722,185
Ensembl chrNW_004624833:5,654,016...5,723,519 		JBrowse link
G Eln elastin ISO protein:increased expression:serum: RGD PMID:16123400 RGD:9585737 NCBI chrNW_004624740:13,856,932...13,886,266 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 chrNW_004624907:2,249,323...2,263,999
Ensembl chrNW_004624907:2,250,133...2,263,947 		JBrowse link
G Ercc6 ERCC excision repair 6, chromatin remodeling factor onset ISO ClinVar Annotator: match by term: Macular degeneration RGD
ClinVar		 PMID:18414213 PMID:21072178 PMID:25741868 PMID:28492532 RGD:10401096 NCBI chrNW_004624928:458,651...532,201
Ensembl chrNW_004624928:463,279...530,115 		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 chrNW_004624785:6,164,507...6,601,302
Ensembl chrNW_004624785:6,164,379...6,601,326 		JBrowse link
G Fas Fas cell surface death receptor severity ISO protein:increased expression:choroid, epithelioid cell (human) RGD PMID:9488273 RGD:8662418 NCBI chrNW_004624791:15,290,022...15,315,848
Ensembl chrNW_004624791:15,289,348...15,315,848 		JBrowse link
G Fbln5 fibulin 5 ISO ClinVar Annotator: match by term: Macular degeneration ClinVar PMID:24033266 PMID:28492532 NCBI chrNW_004624734:10,768,920...10,840,740
Ensembl chrNW_004624734:10,768,751...10,843,654 		JBrowse link
G Flt1 fms related receptor tyrosine kinase 1 ISO RGD PMID:21731737 RGD:5684426 NCBI chrNW_004624776:10,043,113...10,218,598
Ensembl chrNW_004624776:10,043,258...10,219,104 		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 chrNW_004624801:10,511,539...10,518,073
Ensembl chrNW_004624801:10,511,673...10,517,753 		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 chrNW_004624734:33,871,664...34,483,770
Ensembl chrNW_004624734:33,870,997...34,483,508 		JBrowse link
G Gsr glutathione-disulfide reductase ISO protein:decreased expression:blood RGD PMID:7803358 RGD:10401825 NCBI chrNW_004624780:13,440,269...13,497,435
Ensembl chrNW_004624780:13,440,235...13,496,535 		JBrowse link
G Gstm3 glutathione S-transferase mu 3 ISO mRNA, protein:decreased expression:pigmented layer of retina (human) RGD PMID:22410570 RGD:12792247 NCBI chrNW_004624772:5,495,452...5,498,714
Ensembl chrNW_004624772:5,495,452...5,498,652 		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 chrNW_004624754:17,089,061...17,105,538
Ensembl chrNW_004624754:17,089,026...17,094,231 		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 chrNW_004624786:10,574,252...10,589,303
Ensembl chrNW_004624786:10,574,968...10,588,540 		JBrowse link
G Hic1 HIC ZBTB transcriptional repressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30742112 NCBI chrNW_004624786:4,724,806...4,729,714 JBrowse link
G Hk1 hexokinase 1 ISO ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624754:3,594,478...3,656,231
Ensembl chrNW_004624754:3,591,090...3,659,760 		JBrowse link
G Hmcn1 hemicentin 1 ISO ClinVar Annotator: match by term: Macular degeneration ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624814:7,423,844...7,844,890
Ensembl chrNW_004624814:7,424,937...7,730,917 		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 chrNW_004624880:2,070,410...2,075,069
Ensembl chrNW_004624880:2,070,523...2,079,421 		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 chrNW_004624737:24,217,260...24,267,836
Ensembl chrNW_004624737:24,216,525...24,267,827 		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:21762495 PMID:25028103 RGD:9068445 RGD:9068453 NCBI chrNW_004624855:3,911,349...3,914,214
Ensembl chrNW_004624855:3,911,349...3,913,136 		JBrowse link
G Impg1 interphotoreceptor matrix proteoglycan 1 ISO ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:28041643 PMID:28492532 PMID:32581362 NCBI chrNW_004624819:3,002,718...3,030,007 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 chrNW_004624789:15,056,692...15,184,385
Ensembl chrNW_004624789:15,060,525...15,175,617 		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 chrNW_004624761:14,330,224...14,380,680
Ensembl chrNW_004624761:14,330,489...14,379,051 		JBrowse link
G Mbd2 methyl-CpG binding domain protein 2 ISO RGD PMID:24939308 RGD:9588663 NCBI chrNW_004624778:17,880,480...17,959,879
Ensembl chrNW_004624778:17,883,933...17,959,880 		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 chrNW_004624757:1,450,680...1,479,160
Ensembl chrNW_004624757:1,448,698...1,479,255 		JBrowse link
G Mmp9 matrix metallopeptidase 9 severity ISO protein:increased expression:vitreous humor RGD PMID:22490043 PMID:22773904 RGD:10053644 RGD:7829793 NCBI chrNW_004624790:8,584,399...8,591,763
Ensembl chrNW_004624790:8,583,457...8,591,713 		JBrowse link
G Nfe2l2 NFE2 like bZIP transcription factor 2 ISO DNA:SNP, haplotype:intron:28312647A>G (rs6726395) (human) RGD PMID:21559389 PMID:23276910 RGD:10412682 RGD:7771558 NCBI chrNW_004624787:14,355,330...14,381,353
Ensembl chrNW_004624787:14,355,791...14,381,251 		JBrowse link
G Nmnat1 nicotinamide nucleotide adenylyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22842229 NCBI chrNW_004624818:2,575,476...2,591,423
Ensembl chrNW_004624818:2,573,498...2,580,095 		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 chrNW_004624746:16,684,620...16,698,194
Ensembl chrNW_004624746:16,684,407...16,697,479 		JBrowse link
G Parp12 poly(ADP-ribose) polymerase family member 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30742112 NCBI chrNW_004624765:20,317,302...20,349,980
Ensembl chrNW_004624765:20,315,846...20,350,033 		JBrowse link
G Pde6b phosphodiesterase 6B ISO ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:25741868 NCBI chrNW_004624755:26,372,040...26,413,464
Ensembl chrNW_004624755:26,372,072...26,413,381 		JBrowse link
G Pon1 paraoxonase 1 susceptibility
no_association		 ISO DNA:missense mutations:cds:p.L55M, p.Q192R (human)
protein:decreased activity:serum (human)
DNA:snps:promoter, 5' utr:multiple (human)
DNA:missense mutations:cds:p.L55M, p.Q192R (rs662, rs854560) (human)		 RGD PMID:15488805 PMID:15774926 PMID:22956172 PMID:23432778 PMID:23538572 RGD:8547549 RGD:8547551 RGD:8547561 RGD:8547582 RGD:8547659 NCBI chrNW_004624813:1,953,796...1,979,846
Ensembl chrNW_004624813:1,949,614...1,979,882 		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 chrNW_004624755:7,826,219...8,460,746
Ensembl chrNW_004624755:8,375,596...8,465,297 		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 chrNW_004624755:15,765,162...15,886,023
Ensembl chrNW_004624755:15,771,286...15,886,348 		JBrowse link
G Prph2 peripherin 2 ISO ClinVar Annotator: match by term: Macular degeneration | ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:279751 PMID:8111389 PMID:8302543 PMID:8485575 PMID:8485576 More... NCBI chrNW_004624754:16,685,512...16,699,145
Ensembl chrNW_004624754:16,685,378...16,700,111 		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 chrNW_004624734:33,256,469...33,266,085
Ensembl chrNW_004624734:33,254,432...33,266,140 		JBrowse link
G Rlbp1 retinaldehyde binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30742112 NCBI chrNW_004624768:16,410,328...16,423,722
Ensembl chrNW_004624768:16,406,925...16,421,385 		JBrowse link
G Rom1 retinal outer segment membrane protein 1 ISO ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:25741868 PMID:28492532 PMID:30718709 NCBI chrNW_004624926:1,140,082...1,142,434
Ensembl chrNW_004624926:1,140,793...1,142,253 		JBrowse link
G Rpgr retinitis pigmentosa GTPase regulator ISO ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:25741868 PMID:28041643 NCBI chrNW_004624762:17,135,870...17,199,693 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 chrNW_004624730:47,963,819...47,992,869
Ensembl chrNW_004624730:47,963,819...47,992,910 		JBrowse link
G Serpine1 serpin family E member 1 ISO protein:increased expression:plasma (human) RGD PMID:17675241 RGD:8547755 NCBI chrNW_004624740:16,128,145...16,136,696
Ensembl chrNW_004624740:16,128,059...16,137,337 		JBrowse link
G Serpinf1 serpin family F member 1 ISO mRNA:altered expression:retina (rat)
protein:decreased expression:optic choroid (human)		 RGD PMID:16019000 PMID:21191149 RGD:8554867 RGD:8655542 NCBI chrNW_004624786:4,487,005...4,497,706
Ensembl chrNW_004624786:4,486,978...4,497,585 		JBrowse link
G Serping1 serpin family G member 1 no_association
susceptibility		 ISO DNA:SNPs: :multiple
DNA:SNP:intron:c.1029+312T>C (rs11603020) (human)
DNA:SNP, haplotype:intron:c.1030-865C>T (rs2511989) (human)
DNA:SNPs:introns:c.52-130C>T, c.1030-865C>T (rs1005510, rs2511989) (human)		 RGD PMID:19169411 PMID:20576771 PMID:20606025 PMID:21526158 PMID:21852020 RGD:8661263 RGD:8661264 RGD:8661638 RGD:8661639 RGD:8661640 NCBI chrNW_004624864:3,091,397...3,103,084
Ensembl chrNW_004624864:3,091,083...3,103,090 		JBrowse link
G Sirt1 sirtuin 1 ISO mRNA:decreased expression:retina RGD PMID:21890195 RGD:9585773 NCBI chrNW_004624754:2,304,476...2,332,705
Ensembl chrNW_004624754:2,304,634...2,330,946 		JBrowse link
G Slc16a8 solute carrier family 16 member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26691988 NCBI chrNW_004624752:9,874,740...9,879,280
Ensembl chrNW_004624752:9,874,740...9,878,909 		JBrowse link
G Slc19a1 solute carrier family 19 member 1 ISO ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:12415512 PMID:19160445 PMID:19390655 PMID:20799329 PMID:21862674 More... NCBI chrNW_004624745:30,793,114...30,811,944
Ensembl chrNW_004624745:30,794,024...30,811,944 		JBrowse link
G Sod1 superoxide dismutase 1 susceptibility ISO protein:increased expression:serum (human) RGD PMID:16844785 PMID:23848218 RGD:1581207 RGD:8655651 NCBI chrNW_004624745:20,032,003...20,037,958
Ensembl chrNW_004624745:20,032,011...20,037,958 		JBrowse link
G Sod2 superoxide dismutase 2 ISO RGD PMID:17898259 RGD:8158047 NCBI chrNW_004624855:3,260,800...3,271,864
Ensembl chrNW_004624855:3,260,809...3,271,367 		JBrowse link
G Sqstm1 sequestosome 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23922739 NCBI chrNW_004624733:42,689,454...42,700,916
Ensembl chrNW_004624733:42,691,841...42,700,916 		JBrowse link
G Srsf10 serine and arginine rich splicing factor 10 ISO protein:increased expression:retina (human) RGD PMID:24098751 RGD:11038792 NCBI chrNW_004624764:8,460,102...8,475,371
Ensembl chrNW_004624764:8,460,108...8,475,355 		JBrowse link
G Thrb thyroid hormone receptor beta ISO ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:25741868 NCBI chrNW_004624788:1,950,888...2,348,895
Ensembl chrNW_004624788:1,950,890...2,349,343 		JBrowse link
G Timp3 TIMP metallopeptidase inhibitor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26691988 NCBI chrNW_004624750:1,776,197...1,817,279
Ensembl chrNW_004624750:1,775,744...1,817,385 		JBrowse link
G Tlr4 toll like receptor 4 no_association
susceptibility		 ISO CTD Direct Evidence: marker/mechanism
DNA:SNPs: :p.D299G,T399I(human)
DNA:polymorphism:exon:p.D299G(human)
DNA:SNP:: rs4986790(human)		 CTD
RGD		 PMID:15829498 PMID:18172114 PMID:19628747 RGD:7794837 RGD:7794842 RGD:7794843 NCBI chrNW_004624760:17,596,516...17,608,955
Ensembl chrNW_004624760:17,598,630...17,609,120 		JBrowse link
G Tra2b transformer 2 beta homolog ISO protein:increased expression:retina (human) RGD PMID:24098751 RGD:11038792 NCBI chrNW_004624730:70,801,227...70,822,188
Ensembl chrNW_004624730:70,801,207...70,822,178 		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 chrNW_004624734:13,437,234...13,497,269
Ensembl chrNW_004624734:13,437,221...13,497,510 		JBrowse link
G Unc119 unc-119 lipid binding chaperone ISO ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:26992781 PMID:35947183 NCBI chrNW_004624786:1,134,508...1,140,831
Ensembl chrNW_004624786:1,134,162...1,141,474 		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 chrNW_004624835:48,213...758,640
Ensembl chrNW_004624835:49,877...758,640 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:15788408 NCBI chrNW_004624754:15,929,414...15,943,637 JBrowse link
G Zfyve26 zinc finger FYVE-type containing 26 ISO ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:16269441 PMID:17512964 PMID:19011012 PMID:21151602 PMID:23591405 More... NCBI chrNW_004624734:33,175,080...33,240,484
Ensembl chrNW_004624734:33,175,041...33,238,664 		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: 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 chrNW_004624742:3,536,591...3,661,706
Ensembl chrNW_004624742:3,536,591...3,661,468 		JBrowse link
G Cd46 CD46 molecule ISO MouseDO NCBI chrNW_004624807:4,040,639...4,074,631 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 chrNW_004624734:10,768,920...10,840,740
Ensembl chrNW_004624734:10,768,751...10,843,654 		JBrowse link
G Htra1 HtrA serine peptidase 1 susceptibility ISO DNA:snp:promoter:g.-1894G>A (rs3793917) (human) RGD PMID:22618592 RGD:7394695 NCBI chrNW_004624737:24,217,260...24,267,836
Ensembl chrNW_004624737:24,216,525...24,267,827 		JBrowse link
G Ppargc1a PPARG coactivator 1 alpha ISO MouseDO NCBI chrNW_004624755:7,826,219...8,460,746
Ensembl chrNW_004624755:8,375,596...8,465,297 		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 ClinVar Annotator: match by term: Age related macular degeneration 1 | ClinVar Annotator: match by term: MACULOPATHY, AGE-RELATED, 1 ClinVar
OMIM		 PMID:8488843 PMID:9279208 PMID:9360638 PMID:22949395 PMID:24126160 More... NCBI chrNW_004624907:1,752,322...1,755,308 JBrowse link
G Cryba1 crystallin beta A1 ISO OMIM:603075 MouseDO NCBI chrNW_004624786:1,757,272...1,777,735
Ensembl chrNW_004624786:1,771,328...1,777,503 		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 OMIM
ClinVar		 PMID:9536098 PMID:9715689 PMID:14570714 PMID:17216616 PMID:17576681 More... NCBI chrNW_004624814:7,423,844...7,844,890
Ensembl chrNW_004624814:7,424,937...7,730,917 		JBrowse link
G Vldlr very low density lipoprotein receptor ISO OMIM:603075 MouseDO NCBI chrNW_004624736:7,280,478...7,316,897
Ensembl chrNW_004624736:7,280,490...7,316,946 		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 chrNW_004624731:1,705,953...1,719,452
Ensembl chrNW_004624731:1,706,043...1,719,452 		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 ClinVar
OMIM		 PMID:849647 PMID:8613545 PMID:9536098 PMID:15917334 PMID:16199547 More... NCBI chrNW_004624830:111,123...151,668
Ensembl chrNW_004624830:111,004...151,514 		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 chrNW_004624742:3,536,591...3,661,706
Ensembl chrNW_004624742:3,536,591...3,661,468 		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 chrNW_004624754:24,316,778...24,327,065
Ensembl chrNW_004624754:24,317,058...24,322,656 		JBrowse link
G Cfb complement factor B 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 chrNW_004624754:24,310,344...24,316,482
Ensembl chrNW_004624754:24,310,247...24,317,366 		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 chrNW_004624734:10,768,920...10,840,740
Ensembl chrNW_004624734:10,768,751...10,843,654 		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 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 chrNW_004624759:15,534,743...15,623,767
Ensembl chrNW_004624759:15,534,660...15,624,381 		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:9490294 PMID:9503029 More... NCBI chrNW_004624742:3,536,591...3,661,706
Ensembl chrNW_004624742:3,536,591...3,661,468 		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 OMIM
ClinVar		 PMID:15269314 PMID:16374472 PMID:16652333 PMID:17035250 PMID:19194475 More... NCBI chrNW_004624734:10,768,920...10,840,740
Ensembl chrNW_004624734:10,768,751...10,843,654 		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 ClinVar
OMIM		 PMID:8072530 PMID:9536098 PMID:9811382 PMID:10577907 PMID:10762557 More... NCBI chrNW_004624798:3,332,549...3,414,435 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 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 chrNW_004624928:458,651...532,201
Ensembl chrNW_004624928:463,279...530,115 		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 chrNW_004624828:3,773,816...3,798,077
Ensembl chrNW_004624828:3,770,221...3,797,946 		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 chrNW_004624754:24,310,344...24,316,482
Ensembl chrNW_004624754:24,310,247...24,317,366 		JBrowse link
G Dct dopachrome tautomerase ISO ClinVar Annotator: match by term: Age related macular degeneration 7 ClinVar NCBI chrNW_004624879:1,241,593...1,346,765
Ensembl chrNW_004624879:1,241,910...1,279,444 		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
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)
DNA:polymorphisms:multiple (human)		 OMIM
ClinVar
RGD		 PMID:16199547 PMID:17053108 PMID:17053109 PMID:17568988 PMID:18207215 More... RGD:7394713 RGD:7394719 RGD:7394721 RGD:7394722 NCBI chrNW_004624737:24,217,260...24,267,836
Ensembl chrNW_004624737:24,216,525...24,267,827 		JBrowse link
G Mc1r melanocortin 1 receptor ISO ClinVar Annotator: match by term: Macular degeneration, age-related, neovascular type ClinVar NCBI chrNW_004624746:131,356...137,745
Ensembl chrNW_004624746:132,904...133,860 		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 susceptibility ISO ClinVar Annotator: match by term: Age related macular degeneration 9 | ClinVar Annotator: match by term: MACULAR DEGENERATION, AGE-RELATED, 9, SUSCEPTIBILITY TO ClinVar
OMIM		 PMID:1976733 PMID:7870343 PMID:9536098 PMID:12462331 PMID:14639503 More... NCBI chrNW_004624828:3,773,816...3,798,077
Ensembl chrNW_004624828:3,770,221...3,797,946 		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
OMIM		 PMID:8072530 PMID:9536098 PMID:9811382 PMID:10577907 PMID:10762557 More... NCBI chrNW_004624798:3,332,549...3,414,435 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: Autosomal recessive bestrophinopathy OMIM
ClinVar		 PMID:2133066 PMID:2162627 PMID:9700209 PMID:10788642 PMID:10798642 More... NCBI chrNW_004624926:471,073...478,436
Ensembl chrNW_004624926:472,176...478,214 		JBrowse link
G Crb1 crumbs cell polarity complex component 1 ISO ClinVar Annotator: match by term: Autosomal recessive bestrophinopathy ClinVar PMID:17128490 PMID:17297678 PMID:23379534 PMID:24033266 PMID:25474345 More... NCBI chrNW_004624798:2,861,481...2,999,387
Ensembl chrNW_004624798:2,861,520...2,999,697 		JBrowse link
G Fth1 ferritin heavy chain 1 ISO ClinVar Annotator: match by term: Autosomal recessive bestrophinopathy ClinVar PMID:2133066 PMID:10788642 PMID:18985398 PMID:20927214 PMID:21273940 More... NCBI chrNW_004624926:469,870...471,142 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 chrNW_004624754:16,685,512...16,699,145
Ensembl chrNW_004624754:16,685,378...16,700,111 		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 ClinVar Annotator: match by term: Macular dystrophy, concentric annular ClinVar PMID:10090887 PMID:10958761 PMID:10958763 PMID:15614537 PMID:18285826 More... NCBI chrNW_004624742:3,536,591...3,661,706
Ensembl chrNW_004624742:3,536,591...3,661,468 		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 chrNW_004624832:6,103,530...6,108,129
Ensembl chrNW_004624832:6,104,229...6,108,146 		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 OMIM
ClinVar		 PMID:4412179 PMID:14691150 PMID:16199547 PMID:23993198 PMID:25741868 More... NCBI chrNW_004624819:3,002,718...3,030,007 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 term: Hypotrichosis with juvenile macular dystrophy OMIM
ClinVar		 PMID:10420194 PMID:11544476 PMID:12445216 PMID:14708629 PMID:15805154 More... NCBI chrNW_004624746:17,616,296...17,659,021
Ensembl chrNW_004624746:17,616,940...17,658,548 		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 ClinVar Annotator: match by term: Doyne honeycomb degeneration of retina | ClinVar Annotator: match by term: Doyne honeycomb retinal dystrophy OMIM
ClinVar		 PMID:10369267 PMID:11384588 PMID:11389162 PMID:12242346 PMID:17666404 More... NCBI chrNW_004624833:5,654,805...5,722,185
Ensembl chrNW_004624833:5,654,016...5,723,519 		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 chrNW_004624754:16,685,512...16,699,145
Ensembl chrNW_004624754:16,685,378...16,700,111 		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: CDH3-related condition | ClinVar Annotator: match by term: EEM syndrome OMIM
ClinVar		 PMID:9536098 PMID:10420194 PMID:13372143 PMID:14708629 PMID:15805154 More... NCBI chrNW_004624746:17,616,296...17,659,021
Ensembl chrNW_004624746:17,616,940...17,658,548 		JBrowse link
Geographic Atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Htra1 HtrA serine peptidase 1 ISO DNA:snp:promoter:g.-625G>A (rs11200638) (human) RGD PMID:17426452 RGD:7394693 NCBI chrNW_004624737:24,217,260...24,267,836
Ensembl chrNW_004624737:24,216,525...24,267,827 		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 chrNW_004624777:1,921,354...1,969,772
Ensembl chrNW_004624777:1,919,602...1,970,059 		JBrowse link
G Apoe apolipoprotein E susceptibility ISO DNA:polymorphism:exon: RGD PMID:9512153 PMID:16079201 RGD:7495762 RGD:7775015 NCBI chrNW_004624907:1,752,322...1,755,308 JBrowse link
G C3 complement C3 ISO DNA:SNP: :rs2241394 (human) RGD PMID:22174912 RGD:7401249 NCBI chrNW_004624828:3,773,816...3,798,077
Ensembl chrNW_004624828:3,770,221...3,797,946 		JBrowse link
G Cfi complement factor I ISO DNA:SNPs: :rs10033900, rs13117504 (human) RGD PMID:23900096 RGD:8662315 NCBI chrNW_004624830:111,123...151,668
Ensembl chrNW_004624830:111,004...151,514 		JBrowse link
G Crp C-reactive protein treatment ISO DNA:SNPs: :rs2808635,rs876538(human) RGD PMID:17400294 PMID:19692124 RGD:9491756 RGD:9491775 NCBI chrNW_004624794:1,531,555...1,533,804
Ensembl chrNW_004624794:1,531,571...1,533,804 		JBrowse link
G Eln elastin no_association ISO DNA:SNPintron: rs2301995(human) RGD PMID:18326737 PMID:22065928 RGD:7387224 RGD:9585729 NCBI chrNW_004624740:13,856,932...13,886,266 JBrowse link
G Fgd6 FYVE, RhoGEF and PH domain containing 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27089177 NCBI chrNW_004624750:11,869,178...11,966,668
Ensembl chrNW_004624750:11,868,463...11,969,725 		JBrowse link
G Flt1 fms related receptor tyrosine kinase 1 treatment
susceptibility		 ISO DNA:SNP::rs9943922, rs9508034, rs2281827, rs7324510, rs9513115 (human)
protein:increased expression:vitreous:		 RGD PMID:20609706 PMID:22868384 PMID:24812550 RGD:10402108 RGD:10402116 RGD:10402118 NCBI chrNW_004624776:10,043,113...10,218,598
Ensembl chrNW_004624776:10,043,258...10,219,104 		JBrowse link
G Htra1 HtrA serine peptidase 1 susceptibility ISO DNA:silent mutations:exon:g.+102C>T, g.+108G>T/C (rs1049331, rs2293870) (human)
DNA:snp:promoter:g.-625G>A (rs11200638) (human)		 RGD PMID:18164066 PMID:22800422 RGD:7387322 RGD:7394724 NCBI chrNW_004624737:24,217,260...24,267,836
Ensembl chrNW_004624737:24,216,525...24,267,827 		JBrowse link
G Igf1 insulin like growth factor 1 ISO mRNA,protein:increased expression:endothelial cell:
protein:increased expression:aqueous humor of eyeball:		 RGD PMID:12714661 PMID:24106111 RGD:10045867 RGD:10045893 NCBI chrNW_004624750:5,881,065...5,954,799
Ensembl chrNW_004624750:5,881,091...5,952,300 		JBrowse link
G Igf1r insulin like growth factor 1 receptor ISO mRNA,protein:increased expression:endothelial cell: RGD PMID:12714661 RGD:10045893 NCBI chrNW_004624768:5,396,027...5,688,435
Ensembl chrNW_004624768:5,396,156...5,681,809 		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 chrNW_004624823:8,460,968...8,486,495
Ensembl chrNW_004624823:8,460,553...8,486,495 		JBrowse link
G Il6 interleukin 6 ISO protein:increased expression:aqueous humor: RGD PMID:22490043 RGD:7829793 NCBI chrNW_004624739:7,957,709...7,963,414
Ensembl chrNW_004624739:7,957,674...7,962,318 		JBrowse link
G Kdr kinase insert domain receptor susceptibility ISO DNA:SNP: :rs2071559(human) RGD PMID:22919317 RGD:8549752 NCBI chrNW_004624761:14,330,224...14,380,680
Ensembl chrNW_004624761:14,330,489...14,379,051 		JBrowse link
G Loxl1 lysyl oxidase like 1 ISO DNA:SNP:exon:p.R141L (human) RGD PMID:21236409 RGD:7387334 NCBI chrNW_004624781:518,703...537,657
Ensembl chrNW_004624781:520,143...537,727 		JBrowse link
G Mapk8 mitogen-activated protein kinase 8 ISO RGD PMID:23341606 RGD:10412675 NCBI chrNW_004624928:1,442,216...1,494,275
Ensembl chrNW_004624928:1,439,146...1,494,266 		JBrowse link
G Mdm1 Mdm1 nuclear protein ISO DNA, mRNA:nonsense mutation, decreased expression:retina RGD PMID:18805803 RGD:10412062 NCBI chrNW_004624802:2,648...9,999 JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:SNP:cds:rs1801133(human) RGD PMID:22065928 RGD:7387224 NCBI chrNW_004624818:1,184,736...1,202,708
Ensembl chrNW_004624818:1,187,869...1,199,168 		JBrowse link
G Nos3 nitric oxide synthase 3 susceptibility ISO DNA:snp:cds:c.894G>T (rs1799983) (human) RGD PMID:23276910 RGD:7771558 NCBI chrNW_004624800:5,600,215...5,619,020
Ensembl chrNW_004624800:5,600,212...5,619,004 		JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO protein:increased expression:plasma: RGD PMID:24334449 RGD:10449444 NCBI chrNW_004624752:9,072,471...9,088,289
Ensembl chrNW_004624752:9,072,512...9,088,593 		JBrowse link
G Pdgfrb platelet derived growth factor receptor beta ISO RGD PMID:22773904 RGD:10053644 NCBI chrNW_004624774:9,432,765...9,469,690
Ensembl chrNW_004624774:9,432,541...9,469,881 		JBrowse link
G Pon1 paraoxonase 1 susceptibility ISO DNA:missense mutations:cds:p.L55M, p.Q192R (human)
protein:decreased activity:serum (human)		 RGD PMID:19155603 PMID:20042177 RGD:8547556 RGD:8547668 NCBI chrNW_004624813:1,953,796...1,979,846
Ensembl chrNW_004624813:1,949,614...1,979,882 		JBrowse link
G Sod2 superoxide dismutase 2 susceptibility ISO DNA:polymorphism:cds:p.V16A(rs4880)(human) RGD PMID:18573360 RGD:8158102 NCBI chrNW_004624855:3,260,800...3,271,864
Ensembl chrNW_004624855:3,260,809...3,271,367 		JBrowse link
G Tlr2 toll like receptor 2 ISO mRNA:increased expression:peripheral blood mononuclear cell: RGD PMID:23946637 RGD:8552827 NCBI chrNW_004624858:4,931,820...4,984,175
Ensembl chrNW_004624858:4,979,485...4,981,833 		JBrowse link
G Tlr3 toll like receptor 3 ISO mRNA:increased expression:peripheral blood mononuclear cell: RGD PMID:23946637 RGD:8552827 NCBI chrNW_004624769:16,925,969...16,945,250
Ensembl chrNW_004624769:16,925,984...16,941,196 		JBrowse link
G Vegfa vascular endothelial growth factor A treatment ISO DNA:SNP: :rs3025000(human)
DNA:SNP: :rs943080(human)		 RGD PMID:23149126 PMID:23745581 RGD:7483607 RGD:7483627 NCBI chrNW_004624754:15,929,414...15,943,637 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 chrNW_004624774:12,863,446...13,116,929
Ensembl chrNW_004624774:12,863,446...13,116,545 		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 chrNW_004624777:8,831,246...8,877,881
Ensembl chrNW_004624777:8,827,851...8,877,873 		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 chrNW_004624870:2,082,050...2,096,220
Ensembl chrNW_004624870:2,081,968...2,099,517 		JBrowse link
G Clu clusterin ISO associated with Diabetes Mellitus, Type 2;protein:decreased expression:vitreous humor RGD PMID:23568601 RGD:9068396 NCBI chrNW_004624758:22,431,331...22,444,185
Ensembl chrNW_004624758:22,426,918...22,444,357 		JBrowse link
G Fgf2 fibroblast growth factor 2 ISO associated with Diabetes Mellitus;protein:increased expression:aqueous humor RGD PMID:17505145 RGD:8655594 NCBI chrNW_004624777:3,268,674...3,321,424
Ensembl chrNW_004624777:3,268,953...3,321,145 		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 chrNW_004624776:10,043,113...10,218,598
Ensembl chrNW_004624776:10,043,258...10,219,104 		JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha ISO associated with central retinal vein occlusion;mRNA:increased expression:aqueous humor of eyeball (human) RGD PMID:35799735 RGD:155582223 NCBI chrNW_004624734:39,414,458...39,471,705
Ensembl chrNW_004624734:39,411,824...39,471,705 		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:155582223 RGD:7829760 NCBI chrNW_004624739:7,957,709...7,963,414
Ensembl chrNW_004624739:7,957,674...7,962,318 		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 chrNW_004624761:14,330,224...14,380,680
Ensembl chrNW_004624761:14,330,489...14,379,051 		JBrowse link
G Ndp norrin cystine knot growth factor NDP ISO CTD Direct Evidence: marker/mechanism CTD PMID:29654250 NCBI chrNW_004624762:11,409,837...11,435,709
Ensembl chrNW_004624762:11,409,727...11,435,811 		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 chrNW_004624800:5,600,215...5,619,020
Ensembl chrNW_004624800:5,600,212...5,619,004 		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 chrNW_004624786:4,487,005...4,497,706
Ensembl chrNW_004624786:4,486,978...4,497,585 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism
associated with central retinal vein occlusion;protein:increased expression:aqueous humor of eyeball (human)
associated with retinal vein occlusion;protein:increased expression:vitreous humor
associated with Diabetes Mellitus;protein:increased expression:aqueous humor		 CTD
RGD		 PMID:17505145 PMID:20577866 PMID:23411880 PMID:35799735 RGD:155582223 RGD:8549772 RGD:8655594 NCBI chrNW_004624754:15,929,414...15,943,637 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/SET domain 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 chrNW_004624810:5,421,231...5,428,863
Ensembl chrNW_004624810:5,421,522...5,428,848 		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 chrNW_004624863:148,941...202,853
Ensembl chrNW_004624863:148,889...202,952 		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 chrNW_004624872:523,892...528,278
Ensembl chrNW_004624872:523,912...527,615 		JBrowse link
G Rp1l1 RP1 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 chrNW_004624758:24,480,805...24,516,524 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 chrNW_004624743:31,512,481...31,700,340 JBrowse link
G Htra1 HtrA serine peptidase 1 susceptibility ISO DNA:snp:promoter:g.-625G>A (rs11200638) (human) RGD PMID:22893068 RGD:7394745 NCBI chrNW_004624737:24,217,260...24,267,836
Ensembl chrNW_004624737:24,216,525...24,267,827 		JBrowse link
G Mapkapk3 MAPK activated protein kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004624730:4,446,815...4,492,753
Ensembl chrNW_004624730:4,446,850...4,476,630 		JBrowse link
G Prph2 peripherin 2 ISO ClinVar Annotator: match by term: Butterfly-shaped pigment dystrophy of the fovea ClinVar PMID:1427912 PMID:1684223 PMID:7493155 PMID:7825692 PMID:7880786 More... NCBI chrNW_004624754:16,685,512...16,699,145
Ensembl chrNW_004624754:16,685,378...16,700,111 		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: Patterned macular dystrophy 1 OMIM
ClinVar		 PMID:1427912 PMID:1684223 PMID:7493155 PMID:7710395 PMID:7825692 More... NCBI chrNW_004624754:16,685,512...16,699,145
Ensembl chrNW_004624754:16,685,378...16,700,111 		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: Patterned macular dystrophy 2 OMIM
ClinVar		 PMID:5442145 PMID:9536098 PMID:17576681 PMID:25741868 PMID:26691986 More... NCBI chrNW_004624743:31,512,481...31,700,340 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: MAPKAPK3-related condition | ClinVar Annotator: match by term: Patterned macular dystrophy 3 OMIM
ClinVar		 PMID:25741868 PMID:26744326 PMID:28492532 NCBI chrNW_004624730:4,446,815...4,492,753
Ensembl chrNW_004624730:4,446,850...4,476,630 		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 chrNW_004624978:120,723...125,006
Ensembl chrNW_004624978:121,803...124,912 		JBrowse link
G Timp2 TIMP metallopeptidase inhibitor 2 ISO RGD PMID:11004090 RGD:2312481 NCBI chrNW_004624801:8,228,618...8,270,606
Ensembl chrNW_004624801:8,228,357...8,270,982 		JBrowse link
G Timp3 TIMP metallopeptidase inhibitor 3 ISO RGD PMID:11004090 RGD:2312481 NCBI chrNW_004624750:1,776,197...1,817,279
Ensembl chrNW_004624750:1,775,744...1,817,385 		JBrowse link
Radial Drusen, Autosomal Dominant 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 ClinVar Annotator: match by term: DRUSEN, RADIAL, AUTOSOMAL DOMINANT ClinVar PMID:28492532 NCBI chrNW_004624833:5,654,805...5,722,185
Ensembl chrNW_004624833:5,654,016...5,723,519 		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 chrNW_004624754:16,685,512...16,699,145
Ensembl chrNW_004624754:16,685,378...16,700,111 		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:mutations:multiple:
DNA:SNPs: :p.Y402H, rs1410996(human)		 RGD PMID:18936151 PMID:22491393 RGD:7365005 RGD:7365010 NCBI chrNW_004624798:3,332,549...3,414,435 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 chrNW_004624755:15,765,162...15,886,023
Ensembl chrNW_004624755:15,771,286...15,886,348 		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 OMIM
ClinVar		 PMID:9634506 PMID:10205271 PMID:12657606 PMID:12659814 PMID:15665353 More... NCBI chrNW_004624755:15,765,162...15,886,023
Ensembl chrNW_004624755:15,771,286...15,886,348 		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 chrNW_004624730:75,531,320...75,535,875
Ensembl chrNW_004624730:75,530,770...75,536,248 		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 chrNW_004624750:1,663,309...1,976,738
Ensembl chrNW_004624750:1,699,107...1,972,252 		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 chrNW_004624750:1,776,197...1,817,279
Ensembl chrNW_004624750:1,775,744...1,817,385 		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: STGD | ClinVar Annotator: match by term: Stargardt disease | ClinVar Annotator: match by term: Stargardt's disease ClinVar PMID:248200 PMID:8533764 PMID:9054934 PMID:9295268 PMID:9466990 More... NCBI chrNW_004624742:3,536,591...3,661,706
Ensembl chrNW_004624742:3,536,591...3,661,468 		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 chrNW_004624926:471,073...478,436
Ensembl chrNW_004624926:472,176...478,214 		JBrowse link
G Cerkl CERK like autophagy regulator ISO ClinVar Annotator: match by term: Stargardt disease ClinVar PMID:14681825 PMID:16199547 PMID:23591405 PMID:24043777 PMID:25741868 More... NCBI chrNW_004624844:3,354,823...3,474,036 JBrowse link
G Cngb3 cyclic nucleotide gated channel subunit 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 chrNW_004624744:5,059,957...5,209,144
Ensembl chrNW_004624744:5,042,494...5,207,818 		JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Stargardt disease ClinVar PMID:16752401 PMID:20513134 PMID:28492532 NCBI chrNW_004624816:4,273,969...4,304,519
Ensembl chrNW_004624816:4,274,219...4,304,513 		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:25741868 More... NCBI chrNW_004624798:2,861,481...2,999,387
Ensembl chrNW_004624798:2,861,520...2,999,697 		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 chrNW_004624832:6,103,530...6,108,129
Ensembl chrNW_004624832:6,104,229...6,108,146 		JBrowse link
G Elovl4 ELOVL fatty acid elongase 4 ISO OMIM:248200 | OMIM:600110 | OMIM:603786 MouseDO NCBI chrNW_004624819:6,572,263...6,601,991
Ensembl chrNW_004624819:6,572,161...6,602,072 		JBrowse link
G Flvcr1 FLVCR choline and heme transporter 1 ISO ClinVar Annotator: match by term: Stargardt disease ClinVar PMID:30718709 NCBI chrNW_004624771:18,239,437...18,270,408 JBrowse link
G Gphn gephyrin ISO ClinVar Annotator: match by term: Stargardt disease ClinVar PMID:25741868 NCBI chrNW_004624734:33,871,664...34,483,770
Ensembl chrNW_004624734:33,870,997...34,483,508 		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 chrNW_004624736:7,405,697...7,419,364
Ensembl chrNW_004624736:7,407,367...7,418,577 		JBrowse link
G Lrit3 leucine rich repeat, Ig-like and transmembrane domains 3 ISO ClinVar Annotator: match by term: Stargardt disease ClinVar PMID:27428514 PMID:28492532 NCBI chrNW_004624830:55,940...74,213
Ensembl chrNW_004624830:55,955...74,213 		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 chrNW_004624777:8,831,246...8,877,881
Ensembl chrNW_004624777:8,827,851...8,877,873 		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 chrNW_004624730:63,911,066...63,994,886
Ensembl chrNW_004624730:63,911,066...63,995,596 		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 chrNW_004624738:10,948,502...10,962,353
Ensembl chrNW_004624738:10,953,896...10,962,103 		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 chrNW_004624755:15,765,162...15,886,023
Ensembl chrNW_004624755:15,771,286...15,886,348 		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 chrNW_004624754:16,685,512...16,699,145
Ensembl chrNW_004624754:16,685,378...16,700,111 		JBrowse link
G Rdh12 retinol dehydrogenase 12 ISO ClinVar Annotator: match by term: Stargardt disease ClinVar PMID:25741868 NCBI chrNW_004624734:33,256,469...33,266,085
Ensembl chrNW_004624734:33,254,432...33,266,140 		JBrowse link
G Rho rhodopsin ISO ClinVar Annotator: match by term: STGD ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chrNW_004624872:523,892...528,278
Ensembl chrNW_004624872:523,912...527,615 		JBrowse link
G Rp1l1 RP1 like 1 ISO ClinVar Annotator: match by term: Stargardt disease ClinVar NCBI chrNW_004624758:24,480,805...24,516,524 JBrowse link
G Snrnp200 small nuclear ribonucleoprotein U5 subunit 200 ISO ClinVar Annotator: match by term: Stargardt disease ClinVar PMID:30718709 NCBI chrNW_004624749:2,351,476...2,378,047
Ensembl chrNW_004624749:2,351,373...2,378,159 		JBrowse link
G Tulp1 TUB like protein 1 ISO ClinVar Annotator: match by term: Stargardt disease ClinVar PMID:25741868 NCBI chrNW_004624754:21,961,513...21,971,362 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: 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:mutations:multiple:
DNA:mutation:exon:c.2041C>T(human)		 OMIM
ClinVar
RGD		 PMID:248200 PMID:8533764 PMID:9054934 PMID:9295268 PMID:9466990 More... RGD:7815045 RGD:7815046 RGD:7829716 NCBI chrNW_004624742:3,536,591...3,661,706
Ensembl chrNW_004624742:3,536,591...3,661,468 		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 chrNW_004624926:471,073...478,436
Ensembl chrNW_004624926:472,176...478,214 		JBrowse link
G Cngb3 cyclic nucleotide gated channel subunit 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 chrNW_004624744:5,059,957...5,209,144
Ensembl chrNW_004624744:5,042,494...5,207,818 		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 chrNW_004624736:7,405,697...7,419,364
Ensembl chrNW_004624736:7,407,367...7,418,577 		JBrowse link
G LOC101703804 mitochondrial chaperone BCS1 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 chrNW_004624823:6,392,959...6,397,419
Ensembl chrNW_004624823:6,392,959...6,396,854 		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 chrNW_004624777:8,831,246...8,877,881
Ensembl chrNW_004624777:8,827,851...8,877,873 		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 chrNW_004624730:63,911,066...63,994,886
Ensembl chrNW_004624730:63,911,066...63,995,596 		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 chrNW_004624755:15,765,162...15,886,023
Ensembl chrNW_004624755:15,771,286...15,886,348 		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: Stargardt disease 1		 ClinVar PMID:279751 PMID:4142662 PMID:7493155 PMID:7519821 PMID:7825692 More... NCBI chrNW_004624754:16,685,512...16,699,145
Ensembl chrNW_004624754:16,685,378...16,700,111 		JBrowse link
G Rho rhodopsin ISO ClinVar Annotator: match by term: Stargardt disease 1 ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chrNW_004624872:523,892...528,278
Ensembl chrNW_004624872:523,912...527,615 		JBrowse link
G Rp1l1 RP1 like 1 ISO ClinVar Annotator: match by term: Fundus flavimaculatus ClinVar NCBI chrNW_004624758:24,480,805...24,516,524 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:9054934 PMID:9503029 PMID:9781034 PMID:9973280 PMID:10090887 More... NCBI chrNW_004624742:3,536,591...3,661,706
Ensembl chrNW_004624742:3,536,591...3,661,468 		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 OMIM
ClinVar		 PMID:5048218 PMID:11138005 PMID:15028284 PMID:15557430 PMID:22948568 More... NCBI chrNW_004624819:6,572,263...6,601,991
Ensembl chrNW_004624819:6,572,161...6,602,072 		JBrowse link
G Fgfr1 fibroblast growth factor receptor 1 ISO mRNA,protein:increased expression:optic cup: RGD PMID:22199241 RGD:10402074 NCBI chrNW_004624780:5,161,245...5,212,641
Ensembl chrNW_004624780:5,161,073...5,213,870 		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 chrNW_004624819:6,572,263...6,601,991
Ensembl chrNW_004624819:6,572,161...6,602,072 		JBrowse link
G Prom1 prominin 1 ISO ClinVar Annotator: match by term: Stargardt Disease, Dominant | ClinVar Annotator: match by term: Stargardt disease 4 OMIM
ClinVar		 PMID:9634506 PMID:10205271 PMID:12657606 PMID:12659814 PMID:15665353 More... NCBI chrNW_004624755:15,765,162...15,886,023
Ensembl chrNW_004624755:15,771,286...15,886,348 		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 chrNW_004624739:7,957,709...7,963,414
Ensembl chrNW_004624739:7,957,674...7,962,318 		JBrowse link
G Il6r interleukin 6 receptor treatment ISO RGD PMID:24790857 RGD:10402815 NCBI chrNW_004624885:2,910,367...2,946,916
Ensembl chrNW_004624885:2,910,112...2,946,886 		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 OMIM:153700 | OMIM:153840 | OMIM:608161 | OMIM:616151 | OMIM:616152
CTD Direct Evidence: marker/mechanism		 MouseDO
CTD		 NCBI chrNW_004624926:471,073...478,436
Ensembl chrNW_004624926:472,176...478,214 		JBrowse link
G Htra1 HtrA serine peptidase 1 susceptibility ISO DNA:snp:promoter:g.-625G>A (rs11200638) (human) RGD PMID:22893068 RGD:7394745 NCBI chrNW_004624737:24,217,260...24,267,836
Ensembl chrNW_004624737:24,216,525...24,267,827 		JBrowse link
G Impg1 interphotoreceptor matrix proteoglycan 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004624819:3,002,718...3,030,007 JBrowse link
G Impg2 interphotoreceptor matrix proteoglycan 2 ISO CTD Direct Evidence: marker/mechanism
OMIM:153700 | OMIM:153840 | OMIM:608161 | OMIM:616151 | OMIM:616152		 CTD
MouseDO		 NCBI chrNW_004624789:15,056,692...15,184,385
Ensembl chrNW_004624789:15,060,525...15,175,617 		JBrowse link
G Prph2 peripherin 2 ISO ClinVar Annotator: match by term: Vitelliform macular dystrophy ClinVar PMID:25741868 PMID:28492532 PMID:32531846 NCBI chrNW_004624754:16,685,512...16,699,145
Ensembl chrNW_004624754:16,685,378...16,700,111 		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 chrNW_004624926:471,073...478,436
Ensembl chrNW_004624926:472,176...478,214 		JBrowse link
G Impg1 interphotoreceptor matrix proteoglycan 1 ISO ClinVar Annotator: match by term: Vitelliform macular dystrophy 1 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624819:3,002,718...3,030,007 JBrowse link
G Myh9 myosin heavy chain 9 ISO ClinVar Annotator: match by term: Vitelliform macular dystrophy 1 ClinVar PMID:24033266 PMID:24130771 PMID:25077172 PMID:25741868 PMID:26467025 More... NCBI chrNW_004624752:11,327,881...11,414,037
Ensembl chrNW_004624752:11,327,877...11,413,669 		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 chrNW_004624926:471,073...478,436
Ensembl chrNW_004624926:472,176...478,214 		JBrowse link
G Fth1 ferritin heavy chain 1 ISO ClinVar Annotator: match by term: Vitelliform macular dystrophy 2 ClinVar PMID:2133066 PMID:10788642 PMID:13129869 PMID:14615048 PMID:18985398 More... NCBI chrNW_004624926:469,870...471,142 JBrowse link
G Impg1 interphotoreceptor matrix proteoglycan 1 ISO ClinVar Annotator: match by term: Vitelliform macular dystrophy 2 ClinVar PMID:25741868 NCBI chrNW_004624819:3,002,718...3,030,007 JBrowse link
G Impg2 interphotoreceptor matrix proteoglycan 2 ISO ClinVar Annotator: match by term: Vitelliform macular dystrophy 2 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624789:15,056,692...15,184,385
Ensembl chrNW_004624789:15,060,525...15,175,617 		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 chrNW_004624754:16,685,512...16,699,145
Ensembl chrNW_004624754:16,685,378...16,700,111 		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 chrNW_004624789:15,056,692...15,184,385
Ensembl chrNW_004624789:15,060,525...15,175,617 		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 chrNW_004624754:16,685,512...16,699,145
Ensembl chrNW_004624754:16,685,378...16,700,111 		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 chrNW_004624819:3,002,718...3,030,007 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 chrNW_004624841:2,820,543...2,838,998
Ensembl chrNW_004624841:2,820,546...2,839,005 		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 chrNW_004624789:15,056,692...15,184,385
Ensembl chrNW_004624789:15,060,525...15,175,617 		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 chrNW_004624762:17,135,870...17,199,693 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14208
    Diseases of the Aged 1170
      macular degeneration 143
        Concentric Annular Macular Dystrophy 3
        Geographic Atrophy 1
        Kuhnt-Junius degeneration + 27
        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 + 69
        diabetic maculopathy + 0
        ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome 1
        macular retinal edema + 11
        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 14208
    Pathological Conditions, Signs and Symptoms 11236
      Signs and Symptoms 9449
        Neurologic Manifestations 9152
          sensory system disease 6503
            eye disease 3356
              eye degenerative disease 786
                retinal degeneration 784
                  macular degeneration 143
                    Concentric Annular Macular Dystrophy 3
                    Geographic Atrophy 1
                    Kuhnt-Junius degeneration + 27
                    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 + 69
                    diabetic maculopathy + 0
                    ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome 1
                    macular retinal edema + 11
                    occult macular dystrophy 3
                    patterned macular dystrophy + 4
                    retinal macular dystrophy + 3
                    vitelliform macular dystrophy + 8
paths to the root