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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 degeneration of retina;   macular degenerations;   macular dystrophies;   macular dystrophy
 narrow_synonym: inherited macular dystrophy;   myopic macular degeneration
 primary_id: MESH:D008268
 xref: EFO:0009201;   EFO:0020937;   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 RGD
ClinVar		 PMID:9054934 PMID:9295268 PMID:9466990 PMID:9536098 PMID:9781034 More... RGD:1598551 NCBI chr 4:123,202,720...123,333,044
Ensembl chr 4:123,202,753...123,331,144 		JBrowse link
G ADIPOR1 adiponectin receptor 1 ISO DNA:SNP:intron:c.-95+191A>G (rs10753929) (human) RGD PMID:22387454 RGD:8694465 NCBI chr10:24,907,491...24,923,540
Ensembl chr10:24,907,491...24,915,686 		JBrowse link
G APOE apolipoprotein E susceptibility
no_association		 ISO CTD Direct Evidence: marker/mechanism
DNA:haplotype:cds:
DNA:polymorphism:exon:		 RGD
CTD		 PMID:10859513 PMID:12567264 PMID:16079201 PMID:16453339 PMID:19384966 RGD:7495761 RGD:7771552 RGD:7771587 RGD:7775015 NCBI chr 6:51,373,113...51,375,333
Ensembl chr 6:51,372,292...51,375,330 		JBrowse link
G ATF6 activating transcription factor 6 ISO ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:28041643 NCBI chr 4:88,591,279...88,806,156
Ensembl chr 4:88,591,288...88,805,304 		JBrowse link
G ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:15114530 PMID:25741868 PMID:28492532 PMID:28991257 PMID:32557644 NCBI chr15:117,617,584...117,649,063
Ensembl chr15:117,617,502...117,649,107 		JBrowse link
G BAD BCL2 associated agonist of cell death severity ISO protein:increased expression:vitreous humor RGD PMID:22773904 RGD:10053644 NCBI chr 2:7,831,192...7,842,864
Ensembl chr 2:7,830,920...7,842,863 		JBrowse link
G BAX BCL2 associated X, apoptosis regulator ISO RGD PMID:20054800 RGD:10043353 NCBI chr 6:54,222,341...54,228,150
Ensembl chr 6:54,222,336...54,228,140 		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 chr 2:9,538,082...9,550,975
Ensembl chr 2:9,538,085...9,549,873 		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 chr 1:183,415,989...183,422,888
Ensembl chr 1:183,416,146...183,422,637 		JBrowse link
G C1QTNF5 C1q and TNF related 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16123441 NCBI chr 9:46,548,175...46,550,146
Ensembl chr 9:46,548,131...46,550,172 		JBrowse link
G C2 complement C2 susceptibility
no_association		 ISO DNA:missense mutation, haplotype:cds:p.E318D (rs9332739) (human)
ClinVar Annotator: match by term: Macular degeneration
DNA:missense mutation, snp:cds, intron:p.E318D, c.1360+62G>T (rs9332739, rs547154) (human)
DNA:SNP:intron:c.1360+62G>T (rs547154) (human)
DNA:SNP, haplotype:intron:c.1360+62G>T (rs547154) (human)
DNA:polymorphism
DNA:missense mutation:cds:p.E318D (rs9332739) (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 chr 7:24,020,590...24,034,042
Ensembl chr 7:23,995,982...24,033,930 		JBrowse link
G C3 complement C3 ISO ClinVar Annotator: match by term: Macular degeneration ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:72,431,470...72,471,622
Ensembl chr 2:72,431,212...72,472,228 		JBrowse link
G C9 complement C9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24036952 NCBI chr16:24,521,318...24,575,939
Ensembl chr16:24,520,634...24,590,338 		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:28492532 PMID:30718709 NCBI chr  X:43,250,449...43,284,458
Ensembl chr  X:43,251,370...43,283,990 		JBrowse link
G CACNG3 calcium voltage-gated channel auxiliary subunit gamma 3 susceptibility ISO DNA:SNPs: : RGD PMID:21169531 RGD:13524556 NCBI chr 3:21,855,847...21,961,191
Ensembl chr 3:21,855,855...21,961,187 		JBrowse link
G CCL2 chemokine (C-C motif) ligand 2 severity ISO mRNA,protein:increased expression:retina
protein:increased expression:aqueous humor (human)		 RGD PMID:14566334 PMID:17652758 PMID:22172228 PMID:24142887 RGD:8548856 RGD:8549496 RGD:8661224 RGD:9491385 NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,026 		JBrowse link
G CCR2 C-C motif chemokine receptor 2 no_association ISO protein:increased expression:plasma: RGD PMID:16857270 PMID:18172114 RGD:7794843 RGD:8657363 NCBI chr13:29,368,735...29,374,564
Ensembl chr13:29,285,012...29,376,343 		JBrowse link
G CD36 CD36 molecule ISO RGD PMID:18288886 RGD:2307226 NCBI chr 9:99,685,748...99,782,296
Ensembl chr 9:99,605,181...99,782,105 		JBrowse link
G CDH3 cadherin 3 ISO ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:10420194 PMID:14708629 PMID:15805154 PMID:25741868 PMID:27386845 More... NCBI chr 6:18,190,971...18,236,184
Ensembl chr 6:18,191,664...18,235,862 		JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A ISO RGD PMID:20054800 RGD:10043353 NCBI chr 7:32,354,776...32,363,771
Ensembl chr 7:32,359,455...32,363,761 		JBrowse link
G CDKN1B cyclin dependent kinase inhibitor 1B ISO RGD PMID:20054800 RGD:10043353 NCBI chr 5:59,731,224...59,735,831
Ensembl chr 5:59,731,206...59,735,831 		JBrowse link
G CERKL ceramide kinase like ISO ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:25741868 NCBI chr15:87,029,237...87,159,555
Ensembl chr15:87,029,306...87,159,566 		JBrowse link
G CFB complement factor B no_association
susceptibility		 ISO DNA:SNPs: :multiple
ClinVar Annotator: match by term: Macular degeneration
DNA:snp:intron:c.1169-69T>C (rs541862) (human)
DNA:missense mutations:cds:p.L9H, p.R32Q (rs4151667, rs641153) (human)		 RGD
ClinVar		 PMID:1577763 PMID:2249879 PMID:6308626 PMID:8181962 PMID:9616367 More... RGD:7411694 RGD:7411713 RGD:7411731 NCBI chr 7:24,034,077...24,040,523
Ensembl chr 7:24,033,740...24,041,179 		JBrowse link
G CFH complement factor H no_association
susceptibility
disease_progression		 ISO DNA:SNP: :rs1061170 (Y402H)(human)
ClinVar Annotator: match by term: Macular degeneration
DNA:SNP: :rs1410996(human)
DNA:SNP: :rs1061170(human)
DNA:SNP:cds:p.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
G CFI complement factor I no_association
disease_progression		 ISO DNA:SNP:cds:c.345G>A (rs2285714) (human)
DNA:SNP:intron:g.110659067T>C (rs10033900) (human)
CTD Direct Evidence: marker/mechanism
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 chr 8:112,430,824...112,470,844
Ensembl chr 8:112,433,633...112,470,832 		JBrowse link
G CNGA1 cyclic nucleotide gated channel subunit alpha 1 ISO ClinVar Annotator: match by term: Macular degeneration ClinVar PMID:7479749 PMID:24033266 PMID:24265693 PMID:25326637 PMID:25741868 More... NCBI chr 8:37,896,460...37,968,935
Ensembl chr 8:37,896,459...37,969,344 		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 chr 3:55,872,607...55,936,516
Ensembl chr 3:55,874,250...55,922,979 		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 chr 4:50,112,927...50,263,264
Ensembl chr 4:50,112,927...50,263,222 		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 chr13:207,907,835...207,984,082
Ensembl chr13:207,940,948...207,982,938 		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 chr10:20,137,246...20,332,539
Ensembl chr10:20,137,451...20,332,414 		JBrowse link
G CRP C-reactive protein, pentraxin-related susceptibility ISO protein:increased expression:serum: RGD PMID:16225921 PMID:20346514 RGD:9491758 RGD:9491760 NCBI chr 4:90,793,361...90,801,020
Ensembl chr 4:90,793,350...90,805,218 		JBrowse link
G CRX cone-rod homeobox ISO ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:28041643 NCBI chr 6:53,506,410...53,509,858
Ensembl chr 6:53,506,410...53,512,190 		JBrowse link
G CRYAB crystallin alpha B treatment ISO RGD PMID:25483086 RGD:13503350 NCBI chr 9:39,638,505...39,643,530
Ensembl chr 9:39,638,506...39,643,530 		JBrowse link
G CX3CR1 C-X3-C motif chemokine receptor 1 no_association ISO DNA:missense mutations:cds:p.V249I, p.T280M (rs3732379, rs3732378) (human)
DNA:missense mutations:cds:p.V249I, p.T280M (human)
DNA:missense mutation:cds:p.T280M (human)
DNA:missense mutation:cds:p.V249I (human)		 RGD PMID:15208270 PMID:15944936 PMID:17652758 PMID:22816662 PMID:25050486 RGD:9479078 RGD:9491385 RGD:9491390 RGD:9491392 RGD:9491395 NCBI chr13:23,944,386...23,957,567
Ensembl chr13:23,944,369...23,957,486 		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 chr 3:85,407,677...85,473,251
Ensembl chr 3:85,407,677...85,473,252 		JBrowse link
G ELN elastin ISO protein:increased expression:serum: RGD PMID:16123400 RGD:9585737 NCBI chr 3:11,214,194...11,245,891
Ensembl chr 3:11,214,205...11,244,897 		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 6:51,734,318...51,757,508
Ensembl chr 6:51,734,320...51,757,553 		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 chr14:89,998,125...90,075,911
Ensembl chr14:90,002,024...90,075,898 		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 1:14,217,032...14,604,906
Ensembl chr 1:14,217,036...14,493,363 		JBrowse link
G EYS eyes shut homolog ISO ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:20237254 PMID:21069908 PMID:23105016 PMID:25097241 PMID:25741868 More... NCBI chr 1:45,306,446...46,649,722 JBrowse link
G FAS Fas cell surface death receptor severity ISO protein:increased expression:choroid, epithelioid cell (human) RGD PMID:9488273 RGD:8662418 NCBI chr14:100,927,305...100,954,781
Ensembl chr14:100,927,089...100,956,716 		JBrowse link
G FBLN5 fibulin 5 ISO ClinVar Annotator: match by term: Macular degeneration ClinVar PMID:24033266 PMID:28492532 NCBI chr 7:113,423,629...113,526,412
Ensembl chr 7:113,423,632...113,512,198 		JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 ISO RGD PMID:21731737 RGD:5684426 NCBI chr11:5,620,698...5,797,095
Ensembl chr11:5,621,212...5,795,264 		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 chr12:1,300,286...1,311,562
Ensembl chr12:1,300,055...1,309,778 		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 chr 7:90,345,726...90,913,625
Ensembl chr 7:90,346,714...90,916,455 		JBrowse link
G GSR glutathione-disulfide reductase ISO protein:decreased expression:blood RGD PMID:7803358 RGD:10401825 NCBI chr15:54,382,564...54,433,989
Ensembl chr15:54,382,567...54,433,984 		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 chr 4:110,330,027...110,332,957
Ensembl chr 4:110,330,028...110,332,962 		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 7:37,282,630...37,296,713
Ensembl chr 7:37,282,700...37,296,717 		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 chr12:53,200,570...53,250,566
Ensembl chr12:53,235,801...53,249,467 		JBrowse link
G HIC1 HIC ZBTB transcriptional repressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30742112 NCBI chr12:48,167,861...48,172,540
Ensembl chr12:48,168,900...48,172,636 		JBrowse link
G HK1 hexokinase 1 ISO ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr14:72,383,328...72,460,927
Ensembl chr14:72,351,246...72,460,924 		JBrowse link
G HMCN1 hemicentin 1 ISO ClinVar Annotator: match by term: Macular degeneration ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:126,850,208...127,342,696
Ensembl chr 9:126,850,313...127,342,685 		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 9:49,982,278...49,986,760
Ensembl chr 9:49,982,284...49,990,508 		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 chr14:132,043,044...132,103,590
Ensembl chr14:132,041,934...132,103,595 		JBrowse link
G IL17A interleukin 17A susceptibility ISO protein:increased expression: serum (human)
DNA:snps:promoter, 3' utr:c.-197G>A, c.*1249C>T (rs2275913, rs3748067) (human)		 RGD PMID:21762495 PMID:25028103 RGD:9068445 RGD:9068453 NCBI chr 7:46,013,584...46,017,161
Ensembl chr 7:46,013,584...46,017,153 		JBrowse link
G IMPG1 interphotoreceptor matrix proteoglycan 1 ISO ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:28041643 PMID:28492532 PMID:32581362 NCBI chr 1:89,836,013...89,986,530
Ensembl chr 1:89,836,050...89,987,397 		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 chr13:157,672,973...157,763,817
Ensembl chr13:157,675,265...157,759,266 		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 chr 8:41,809,116...41,856,379
Ensembl chr 8:41,809,122...41,856,336 		JBrowse link
G LOC100737977 tumor necrosis factor receptor superfamily member 10B-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:21909106 NCBI chr14:7,344,788...7,371,086 JBrowse link
G MBD2 methyl-CpG binding domain protein 2 ISO RGD PMID:24939308 RGD:9588663 NCBI chr 1:103,683,077...103,768,372
Ensembl chr 1:103,735,192...103,752,402 		JBrowse link
G MIR184 microRNA mir-184 ISO CTD Direct Evidence: therapeutic CTD PMID:35690295 NCBI chr 7:48,345,017...48,345,099
Ensembl chr 7:48,345,017...48,345,099 		JBrowse link
G MIR23A microRNA mir-23a ISO RNA:decreased expression:retinal pigment epithelial cell: RGD PMID:21693609 RGD:10053591 NCBI chr 2:65,308,117...65,308,186
Ensembl chr 2:65,308,117...65,308,186 		JBrowse link
G MMP2 matrix metallopeptidase 2 no_association
susceptibility		 ISO DNA:SNP:promoter:-1306C>T (rs243865) (human)
DNA:silent mutation:cds:c.1380G>A (rs2287074) (human)		 RGD PMID:18359774 PMID:23536957 RGD:8657039 RGD:8657041 NCBI chr 6:30,059,247...30,087,031
Ensembl chr 6:30,058,595...30,086,982 		JBrowse link
G MMP9 matrix metallopeptidase 9 severity ISO protein:increased expression:vitreous humor RGD PMID:22490043 PMID:22773904 RGD:10053644 RGD:7829793 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788 		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:11,359...12,736
Ensembl chr MT:11,359...12,736 		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 chr15:82,967,485...83,146,185
Ensembl chr15:82,973,656...83,146,183 		JBrowse link
G NMNAT1 nicotinamide nucleotide adenylyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22842229 NCBI chr 6:70,271,296...70,307,403
Ensembl chr 6:70,272,014...70,310,707 		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 chr 6:17,292,962...17,302,593
Ensembl chr 6:17,292,770...17,302,590 		JBrowse link
G PARP12 poly(ADP-ribose) polymerase family member 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30742112 NCBI chr18:9,673,841...9,715,169
Ensembl chr18:9,674,944...9,716,743 		JBrowse link
G PDE6B phosphodiesterase 6B ISO ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:25741868 NCBI chr 8:80,378...111,960
Ensembl chr 8:80,378...110,672 		JBrowse link
G PON1 paraoxonase 1 no_association
susceptibility		 ISO protein:decreased activity:serum (human)
DNA:missense mutations:cds:p.L55M, p.Q192R (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 chr 9:74,943,646...74,974,720
Ensembl chr 9:74,926,048...74,974,723 		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 chr 8:17,841,844...18,527,953
Ensembl chr 8:17,841,844...17,946,992 		JBrowse link
G PROM1 prominin 1 ISO ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:9634506 PMID:10205271 PMID:12657606 PMID:12659814 PMID:15665353 More... NCBI chr 8:11,215,659...11,331,442
Ensembl chr 8:11,215,663...11,317,312 		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 chr 7:37,788,547...37,805,142
Ensembl chr 7:37,790,178...37,805,142 		JBrowse link
G RAX2 retina and anterior neural fold homeobox 2 ISO ClinVar Annotator: match by term: Macular degeneration ClinVar NCBI chr 2:74,921,553...74,924,834
Ensembl chr 2:74,921,494...74,924,967 		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 chr 7:91,481,238...91,493,838
Ensembl chr 7:91,481,272...91,493,809 		JBrowse link
G RLBP1 retinaldehyde binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30742112 NCBI chr 7:54,783,965...54,800,008
Ensembl chr 7:54,776,113...54,889,014 		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 2:9,125,377...9,127,615
Ensembl chr 2:9,125,381...9,127,615 		JBrowse link
G RP1L1 RP1 like 1 ISO ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:25741868 NCBI chr14:13,790,287...13,841,230 JBrowse link
G RPGR retinitis pigmentosa GTPase regulator ISO ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:25741868 PMID:28041643 NCBI chr  X:34,238,961...34,522,814
Ensembl chr  X:34,228,124...34,296,589 		JBrowse link
G SERPINE1 serpin family E member 1 ISO protein:increased expression:plasma (human) RGD PMID:17675241 RGD:8547755 NCBI chr 3:8,863,738...8,871,572
Ensembl chr 3:8,863,695...8,871,547 		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 chr12:47,949,004...47,959,471
Ensembl chr12:47,948,510...47,959,470 		JBrowse link
G SERPING1 serpin family G member 1 no_association
susceptibility		 ISO DNA:SNP, haplotype:intron:c.1030-865C>T (rs2511989) (human)
DNA:SNPs:introns:c.52-130C>T, c.1030-865C>T (rs1005510, rs2511989) (human)
DNA:SNP:intron:c.1029+312T>C (rs11603020) (human)
DNA:SNPs: :multiple		 RGD PMID:19169411 PMID:20576771 PMID:20606025 PMID:21526158 PMID:21852020 RGD:8661263 RGD:8661264 RGD:8661638 RGD:8661639 RGD:8661640 NCBI chr 2:13,324,160...13,338,826
Ensembl chr 2:13,324,158...13,338,663 		JBrowse link
G SIRT1 sirtuin 1 ISO mRNA:decreased expression:retina RGD PMID:21890195 RGD:9585773 NCBI chr14:71,091,167...71,126,351
Ensembl chr14:71,091,167...71,123,297 		JBrowse link
G SLC16A8 solute carrier family 16 member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26691988 NCBI chr 5:9,799,830...9,806,550
Ensembl chr 5:9,800,397...9,806,543 		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 chr13:207,986,094...208,007,855
Ensembl chr13:207,986,098...208,007,675 		JBrowse link
G SOD1 superoxide dismutase 1 susceptibility ISO protein:increased expression:serum (human) RGD PMID:16844785 PMID:23848218 RGD:1581207 RGD:8655651 NCBI chr13:195,326,573...195,335,273
Ensembl chr13:195,326,649...195,337,729 		JBrowse link
G SOD2 superoxide dismutase 2 ISO RGD PMID:17898259 RGD:8158047 NCBI chr 1:7,679,352...7,689,564
Ensembl chr 1:7,679,352...7,689,560 		JBrowse link
G SQSTM1 sequestosome 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23922739 NCBI chr 2:78,752,768...78,763,998
Ensembl chr 2:78,752,771...78,763,938 		JBrowse link
G SRSF10 serine and arginine rich splicing factor 10 ISO protein:increased expression:retina (human) RGD PMID:24098751 RGD:11038792 NCBI chr 6:81,727,893...81,741,516
Ensembl chr 6:81,727,901...81,741,496 		JBrowse link
G THRB thyroid hormone receptor beta ISO ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:25741868 NCBI chr13:10,900,716...11,360,587
Ensembl chr13:10,900,724...11,359,544 		JBrowse link
G TIMP3 TIMP metallopeptidase inhibitor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26691988 NCBI chr 5:12,185,816...12,242,599
Ensembl chr 5:12,185,818...12,242,581 		JBrowse link
G TLR4 toll like receptor 4 no_association
susceptibility		 ISO DNA:SNPs: :p.D299G,T399I(human)
DNA:polymorphism:exon:p.D299G(human)
CTD Direct Evidence: marker/mechanism
DNA:SNP:: rs4986790(human)		 RGD
CTD		 PMID:15829498 PMID:18172114 PMID:19628747 RGD:7794837 RGD:7794842 RGD:7794843 NCBI chr 1:258,044,610...258,054,641
Ensembl chr 1:258,044,610...258,058,970 		JBrowse link
G TRA2B transformer 2 beta homolog ISO protein:increased expression:retina (human) RGD PMID:24098751 RGD:11038792 NCBI chr13:123,760,008...123,780,919
Ensembl chr13:123,754,864...123,780,920 		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 chr 7:110,731,729...110,783,999
Ensembl chr 7:110,731,731...110,784,853 		JBrowse link
G UNC119 unc-119 lipid binding chaperone ISO ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:26992781 PMID:35947183 NCBI chr12:44,801,265...44,807,334
Ensembl chr12:44,801,267...44,807,339 		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 chr10:5,825,591...6,662,733 JBrowse link
G VEGFA vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:15788408 NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,366 		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 chr 7:91,518,444...91,590,480
Ensembl chr 7:91,518,452...91,590,449 		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 chr 4:123,202,720...123,333,044
Ensembl chr 4:123,202,753...123,331,144 		JBrowse link
G CCL2 chemokine (C-C motif) ligand 2 ISO MouseDO NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,026 		JBrowse link
G CCR2 C-C motif chemokine receptor 2 ISO MouseDO NCBI chr13:29,368,735...29,374,564
Ensembl chr13:29,285,012...29,376,343 		JBrowse link
G CD46 CD46 molecule, complement regulatory protein ISO MouseDO NCBI chr 9:135,025,439...135,078,910 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 chr 7:113,423,629...113,526,412
Ensembl chr 7:113,423,632...113,512,198 		JBrowse link
G HTRA1 HtrA serine peptidase 1 susceptibility ISO DNA:snp:promoter:g.-1894G>A (rs3793917) (human) RGD PMID:22618592 RGD:7394695 NCBI chr14:132,043,044...132,103,590
Ensembl chr14:132,041,934...132,103,595 		JBrowse link
G PPARGC1A PPARG coactivator 1 alpha ISO MouseDO NCBI chr 8:17,841,844...18,527,953
Ensembl chr 8:17,841,844...17,946,992 		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 chr 6:51,373,113...51,375,333
Ensembl chr 6:51,372,292...51,375,330 		JBrowse link
G CRYBA1 crystallin beta A1 ISO OMIM:603075 MouseDO NCBI chr12:45,466,051...45,473,110
Ensembl chr12:45,466,520...45,473,092 		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 chr 9:126,850,208...127,342,696
Ensembl chr 9:126,850,313...127,342,685 		JBrowse link
G VLDLR very low density lipoprotein receptor ISO OMIM:603075 MouseDO NCBI chr 1:219,178,501...219,210,332
Ensembl chr 1:219,173,507...219,210,343 		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 term: Age related macular degeneration 11 OMIM
ClinVar		 PMID:11815350 PMID:25741868 PMID:25893795 PMID:28492532 PMID:33116287 NCBI chr17:30,471,056...30,474,486
Ensembl chr17:30,470,855...30,474,590 		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 chr13:23,944,386...23,957,567
Ensembl chr13:23,944,369...23,957,486 		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 ISO ClinVar Annotator: match by term: Age related macular degeneration 13 | ClinVar Annotator: match by term: Macular degeneration, age-related, 13, susceptibility to ClinVar
OMIM		 PMID:849647 PMID:8613545 PMID:9536098 PMID:15917334 PMID:16199547 More... NCBI chr 8:112,430,824...112,470,844
Ensembl chr 8:112,433,633...112,470,832 		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 4:123,202,720...123,333,044
Ensembl chr 4:123,202,753...123,331,144 		JBrowse link
G C2 complement C2 ISO ClinVar Annotator: match by term: Age related macular degeneration 14 OMIM
ClinVar		 PMID:1577763 PMID:2249879 PMID:6308626 PMID:8181962 PMID:9536098 More... NCBI chr 7:24,020,590...24,034,042
Ensembl chr 7:23,995,982...24,033,930 		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 chr 7:24,034,077...24,040,523
Ensembl chr 7:24,033,740...24,041,179 		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: Age related macular degeneration 15 ClinVar
OMIM		 PMID:24036952 PMID:28492532 NCBI chr16:24,521,318...24,575,939
Ensembl chr16:24,520,634...24,590,338 		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:9490294 PMID:9503029 More... NCBI chr 4:123,202,720...123,333,044
Ensembl chr 4:123,202,753...123,331,144 		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 chr 7:113,423,629...113,526,412
Ensembl chr 7:113,423,632...113,512,198 		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 susceptibility ISO ClinVar Annotator: match by term: Age related macular degeneration 4 ClinVar
OMIM		 PMID:8072530 PMID:9536098 PMID:9811382 PMID:10577907 PMID:10762557 More...
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 ClinVar
OMIM		 PMID:9443879 PMID:9536098 PMID:10196384 PMID:10767341 PMID:16754848 More... NCBI chr14:89,998,125...90,075,911
Ensembl chr14:90,002,024...90,075,898 		JBrowse link
age related macular degeneration 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RAX2 retina and anterior neural fold homeobox 2 ISO ClinVar Annotator: match by term: Age related macular degeneration 6 OMIM
ClinVar		 PMID:15028672 PMID:25741868 PMID:25986607 PMID:28492532 PMID:30377383 More... NCBI chr 2:74,921,553...74,924,834
Ensembl chr 2:74,921,494...74,924,967 		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 2:72,431,470...72,471,622
Ensembl chr 2:72,431,212...72,472,228 		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 chr 7:24,034,077...24,040,523
Ensembl chr 7:24,033,740...24,041,179 		JBrowse link
G HTRA1 HtrA serine peptidase 1 severity
susceptibility		 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: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)
DNA:snp:promoter:g.-497C>T (rs2672598) (human)		 OMIM
ClinVar
RGD		 PMID:17053108 PMID:17053109 PMID:17568988 PMID:18207215 PMID:18436811 More... RGD:7394713 RGD:7394719 RGD:7394721 RGD:7394722 NCBI chr14:132,043,044...132,103,590
Ensembl chr14:132,041,934...132,103,595 		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: Age related macular degeneration 9 | ClinVar Annotator: match by term: MACULAR DEGENERATION, AGE-RELATED, 9, SUSCEPTIBILITY TO OMIM
ClinVar		 PMID:1976733 PMID:7870343 PMID:9536098 PMID:12462331 PMID:14639503 More... NCBI chr 2:72,431,470...72,471,622
Ensembl chr 2:72,431,212...72,472,228 		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 susceptibility 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...
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 chr 2:9,538,082...9,550,975
Ensembl chr 2:9,538,085...9,549,873 		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 chr10:20,137,246...20,332,539
Ensembl chr10:20,137,451...20,332,414 		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 chr 2:9,535,051...9,537,979 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 chr 7:37,788,547...37,805,142
Ensembl chr 7:37,790,178...37,805,142 		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 chr 4:123,202,720...123,333,044
Ensembl chr 4:123,202,753...123,331,144 		JBrowse link
G CRX cone-rod homeobox ISO ClinVar Annotator: match by term: Benign concentric annular macular dystrophy ClinVar PMID:22968130 PMID:23806086 PMID:24088041 PMID:25259927 PMID:25270190 More... NCBI chr 6:53,506,410...53,509,858
Ensembl chr 6:53,506,410...53,512,190 		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 chr 1:89,836,013...89,986,530
Ensembl chr 1:89,836,050...89,987,397 		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 chr 6:18,190,971...18,236,184
Ensembl chr 6:18,191,664...18,235,862 		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 retinal dystrophy OMIM
ClinVar		 PMID:10369267 PMID:11384588 PMID:11389162 PMID:12242346 PMID:17666404 More... NCBI chr 3:85,407,677...85,473,251
Ensembl chr 3:85,407,677...85,473,252 		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 chr 7:37,788,547...37,805,142
Ensembl chr 7:37,790,178...37,805,142 		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 chr 6:18,190,971...18,236,184
Ensembl chr 6:18,191,664...18,235,862 		JBrowse link
Geographic Atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCL2 chemokine (C-C motif) ligand 2 ISO protein:increased expression:aqueous humor of eyeball RGD PMID:24142887 RGD:8661224 NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,026 		JBrowse link
G CCR2 C-C motif chemokine receptor 2 ISO protein:increased expression:monocyte RGD PMID:24142887 RGD:8661224 NCBI chr13:29,368,735...29,374,564
Ensembl chr13:29,285,012...29,376,343 		JBrowse link
G HTRA1 HtrA serine peptidase 1 ISO DNA:snp:promoter:g.-625G>A (rs11200638) (human) RGD PMID:17426452 RGD:7394693 NCBI chr14:132,043,044...132,103,590
Ensembl chr14:132,041,934...132,103,595 		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 8:102,387,833...102,420,868
Ensembl chr 8:102,388,103...102,425,750 		JBrowse link
G APOE apolipoprotein E susceptibility ISO DNA:polymorphism:exon: RGD PMID:9512153 PMID:16079201 RGD:7495762 RGD:7775015 NCBI chr 6:51,373,113...51,375,333
Ensembl chr 6:51,372,292...51,375,330 		JBrowse link
G C3 complement C3 ISO DNA:SNP: :rs2241394 (human) RGD PMID:22174912 RGD:7401249 NCBI chr 2:72,431,470...72,471,622
Ensembl chr 2:72,431,212...72,472,228 		JBrowse link
G CCL2 chemokine (C-C motif) ligand 2 severity ISO protein:increased expression:aqueous humor of eyeball (human) RGD PMID:20937997 RGD:8548855 NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,026 		JBrowse link
G CCR2 C-C motif chemokine receptor 2 ISO protein:increased expression:monocyte: RGD PMID:22789920 RGD:8661669 NCBI chr13:29,368,735...29,374,564
Ensembl chr13:29,285,012...29,376,343 		JBrowse link
G CFI complement factor I ISO DNA:SNPs: :rs10033900, rs13117504 (human) RGD PMID:23900096 RGD:8662315 NCBI chr 8:112,430,824...112,470,844
Ensembl chr 8:112,433,633...112,470,832 		JBrowse link
G CRP C-reactive protein, pentraxin-related treatment ISO DNA:SNPs: :rs2808635,rs876538(human) RGD PMID:17400294 PMID:19692124 RGD:9491756 RGD:9491775 NCBI chr 4:90,793,361...90,801,020
Ensembl chr 4:90,793,350...90,805,218 		JBrowse link
G ELN elastin no_association ISO DNA:SNPintron: rs2301995(human) RGD PMID:18326737 PMID:22065928 RGD:7387224 RGD:9585729 NCBI chr 3:11,214,194...11,245,891
Ensembl chr 3:11,214,205...11,244,897 		JBrowse link
G FGD6 FYVE, RhoGEF and PH domain containing 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27089177 NCBI chr 5:88,087,032...88,229,807
Ensembl chr 5:88,104,899...88,221,828 		JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 treatment
susceptibility		 ISO protein:increased expression:vitreous:
DNA:SNP::rs9943922, rs9508034, rs2281827, rs7324510, rs9513115 (human) 		RGD PMID:20609706 PMID:22868384 PMID:24812550 RGD:10402108 RGD:10402116 RGD:10402118 NCBI chr11:5,620,698...5,797,095
Ensembl chr11:5,621,212...5,795,264 		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:18164066 PMID:22800422 RGD:7387322 RGD:7394724 NCBI chr14:132,043,044...132,103,590
Ensembl chr14:132,041,934...132,103,595 		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 chr 5:81,762,027...81,909,253
Ensembl chr 5:81,775,970...81,848,033 		JBrowse link
G IGF1R insulin like growth factor 1 receptor ISO mRNA,protein:increased expression:endothelial cell: RGD PMID:12714661 RGD:10045893 NCBI chr 1:137,383,623...137,691,038
Ensembl chr 1:137,387,825...137,691,058 		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 chr15:118,822,092...118,850,985
Ensembl chr15:118,822,047...118,850,976 		JBrowse link
G IL6 interleukin 6 ISO protein:increased expression:aqueous humor: RGD PMID:22490043 RGD:7829793 NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263 		JBrowse link
G KDR kinase insert domain receptor susceptibility ISO DNA:SNP: :rs2071559(human) RGD PMID:22919317 RGD:8549752 NCBI chr 8:41,809,116...41,856,379
Ensembl chr 8:41,809,122...41,856,336 		JBrowse link
G LOC100739508 glutathione S-transferase P-like susceptibility ISO DNA:polymorphism::(rs1695)(human)
DNA:deletion, haplotype:: (human)		 RGD PMID:22487578 PMID:28221473 RGD:12792224 RGD:8547932 NCBI chr 2:5,005,498...5,009,247 JBrowse link
G LOXL1 lysyl oxidase like 1 ISO DNA:SNP:exon:p.R141L (human) RGD PMID:21236409 RGD:7387334 NCBI chr 7:59,481,410...59,505,161
Ensembl chr 7:59,481,412...59,505,149 		JBrowse link
G MAPK8 mitogen-activated protein kinase 8 ISO RGD PMID:23341606 RGD:10412675 NCBI chr14:88,988,914...89,108,875
Ensembl chr14:88,988,949...89,108,874 		JBrowse link
G MDM1 Mdm1 nuclear protein ISO DNA, mRNA:nonsense mutation, decreased expression:retina RGD PMID:18805803 RGD:10412062 NCBI chr 5:32,640,939...32,673,624
Ensembl chr 5:32,640,945...32,673,638 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase susceptibility ISO DNA:SNP:cds:rs1801133(human) RGD PMID:22065928 RGD:7387224 NCBI chr 6:71,863,637...71,882,118
Ensembl chr 6:71,863,637...71,881,820 		JBrowse link
G NOS3 nitric oxide synthase 3 susceptibility ISO DNA:snp:cds:c.894G>T (rs1799983) (human) RGD PMID:23276910 RGD:7771558 NCBI chr18:6,209,218...6,228,912
Ensembl chr18:6,209,158...6,228,943 		JBrowse link
G PDGFB platelet derived growth factor subunit B ISO protein:increased expression:plasma: RGD PMID:24334449 RGD:10449444 Ensembl chr 5:8,986,462...9,007,435 JBrowse link
G PDGFRB platelet derived growth factor receptor beta ISO RGD PMID:22773904 RGD:10053644 NCBI chr 2:151,155,753...151,192,818
Ensembl chr 2:151,155,756...151,192,647 		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 9:74,943,646...74,974,720
Ensembl chr 9:74,926,048...74,974,723 		JBrowse link
G SOD2 superoxide dismutase 2 susceptibility ISO DNA:polymorphism:cds:p.V16A(rs4880)(human) RGD PMID:18573360 RGD:8158102 NCBI chr 1:7,679,352...7,689,564
Ensembl chr 1:7,679,352...7,689,560 		JBrowse link
G TLR2 toll like receptor 2 ISO mRNA:increased expression:peripheral blood mononuclear cell: RGD PMID:23946637 RGD:8552827 NCBI chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,993...75,428,330 		JBrowse link
G TLR3 toll like receptor 3 ISO mRNA:increased expression:peripheral blood mononuclear cell: RGD PMID:23946637 RGD:8552827 NCBI chr15:46,966,262...46,977,774
Ensembl chr15:46,969,006...46,979,291 		JBrowse link
G VEGFA vascular endothelial growth factor A treatment ISO DNA:SNP: :rs943080(human)
DNA:SNP: :rs3025000(human)		 RGD PMID:23149126 PMID:23745581 RGD:7483607 RGD:7483627 NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,366 		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:16835936 PMID:17345643 PMID:17576681 More... NCBI chr 2:131,150,665...131,370,241
Ensembl chr 2:131,152,127...131,370,881 		JBrowse link
Macular Dystrophy with Central Cone Involvement term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MFSD8 major facilitator superfamily domain containing 8 ISO ClinVar Annotator: match by term: Macular dystrophy with central cone involvement OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17564970 PMID:17576681 PMID:19177532 More... NCBI chr 8:96,925,063...96,972,390
Ensembl chr 8:96,925,081...96,972,383 		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 chr12:12,827,195...12,839,172
Ensembl chr12:12,827,201...12,839,175 		JBrowse link
G CCL2 chemokine (C-C motif) ligand 2 severity ISO associated with Retinal Vein Occlusion;protein:increased expression:vitreous humor (human)
associated with central retinal vein occlusion;protein:increased expression:aqueous humor of eyeball (human)
associated with Diabetic Retinopathy;protein:increased expression:vitreous humor		 RGD PMID:19118698 PMID:22066978 PMID:35799735 RGD:155582223 RGD:2306981 RGD:7829760 NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,026 		JBrowse link
G CLU clusterin ISO associated with Diabetes Mellitus, Type 2;protein:decreased expression:vitreous humor RGD PMID:23568601 RGD:9068396 NCBI chr14:11,336,585...11,352,569
Ensembl chr14:11,336,595...11,349,764 		JBrowse link
G EPO erythropoietin severity ISO RGD PMID:20664492 RGD:10400883 NCBI chr 3:8,620,508...8,622,936
Ensembl chr 3:8,620,508...8,622,936 		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 8:101,278,877...101,344,084
Ensembl chr 8:101,278,885...101,343,916 		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 chr11:5,620,698...5,797,095
Ensembl chr11:5,621,212...5,795,264 		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 chr 1:190,625,436...190,673,926
Ensembl chr 1:190,625,244...190,674,845 		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 chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263 		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 chr 8:41,809,116...41,856,379
Ensembl chr 8:41,809,122...41,856,336 		JBrowse link
G NDP norrin cystine knot growth factor NDP ISO CTD Direct Evidence: marker/mechanism CTD PMID:29654250 NCBI chr  X:39,208,115...39,235,879
Ensembl chr  X:39,208,119...39,235,758 		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 chr18:6,209,218...6,228,912
Ensembl chr18:6,209,158...6,228,943 		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 chr12:47,949,004...47,959,471
Ensembl chr12:47,948,510...47,959,470 		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 Diabetes Mellitus;protein:increased expression:aqueous humor
associated with retinal vein occlusion;protein:increased expression:vitreous humor		 CTD
RGD		 PMID:17505145 PMID:20577866 PMID:23411880 PMID:35799735 RGD:155582223 RGD:8549772 RGD:8655594 NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,366 		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 chr 1:66,539,061...66,546,506
Ensembl chr 1:66,538,862...66,546,409 		JBrowse link
occult macular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CAPN5 calpain 5 ISO ClinVar Annotator: match by term: Occult macular dystrophy ClinVar PMID:25741868 NCBI chr 9:11,194,302...11,246,713
Ensembl chr 9:11,207,636...11,246,711 		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 chr13:68,908,578...68,913,651
Ensembl chr13:68,908,578...68,913,651 		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 chr14:13,790,287...13,841,230 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 chr 2:140,682,776...140,869,828
Ensembl chr 2:140,682,371...140,871,334 		JBrowse link
G HTRA1 HtrA serine peptidase 1 susceptibility ISO DNA:snp:promoter:g.-625G>A (rs11200638) (human) RGD PMID:22893068 RGD:7394745 NCBI chr14:132,043,044...132,103,590
Ensembl chr14:132,041,934...132,103,595 		JBrowse link
G MAPKAPK3 MAPK activated protein kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr13:33,097,329...33,125,820
Ensembl chr13:33,097,393...33,125,818 		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 chr 7:37,788,547...37,805,142
Ensembl chr 7:37,790,178...37,805,142 		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 chr 7:37,788,547...37,805,142
Ensembl chr 7:37,790,178...37,805,142 		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 chr 2:140,682,776...140,869,828
Ensembl chr 2:140,682,371...140,871,334 		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 chr13:33,097,329...33,125,820
Ensembl chr13:33,097,393...33,125,818 		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:42,103,251...42,106,289
Ensembl chr  X:42,102,172...42,106,296 		JBrowse link
G TIMP2 TIMP metallopeptidase inhibitor 2 ISO RGD PMID:11004090 RGD:2312481 NCBI chr12:3,254,794...3,300,835
Ensembl chr12:3,254,493...3,300,834 		JBrowse link
G TIMP3 TIMP metallopeptidase inhibitor 3 ISO RGD PMID:11004090 RGD:2312481 NCBI chr 5:12,185,816...12,242,599
Ensembl chr 5:12,185,818...12,242,581 		JBrowse link
Radial Drusen, Autosomal Dominant 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: DRUSEN, RADIAL, AUTOSOMAL DOMINANT ClinVar PMID:9536098 PMID:11139241 PMID:11704030 PMID:16113362 PMID:16799052 More... NCBI chr 7:37,788,547...37,805,142
Ensembl chr 7:37,790,178...37,805,142 		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
retinal macular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PROM1 prominin 1 ISO ClinVar Annotator: match by term: Macular dystrophy, retinal ClinVar PMID:23757202 PMID:25741868 PMID:28492532 NCBI chr 8:11,215,659...11,331,442
Ensembl chr 8:11,215,663...11,317,312 		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 chr 8:11,215,659...11,331,442
Ensembl chr 8:11,215,663...11,317,312 		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 chr13:28,219,241...28,229,113
Ensembl chr13:28,219,500...28,229,096 		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 5:12,017,741...12,501,995
Ensembl chr 5:12,473,793...12,500,076 		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 5:12,185,816...12,242,599
Ensembl chr 5:12,185,818...12,242,581 		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:8533764 PMID:9054934 PMID:9295268 PMID:9466990 PMID:9490294 More... NCBI chr 4:123,202,720...123,333,044
Ensembl chr 4:123,202,753...123,331,144 		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 2:9,538,082...9,550,975
Ensembl chr 2:9,538,085...9,549,873 		JBrowse link
G CERKL ceramide kinase like ISO ClinVar Annotator: match by term: Stargardt disease ClinVar PMID:14681825 PMID:16199547 PMID:23591405 PMID:24043777 PMID:25741868 More... NCBI chr15:87,029,237...87,159,555
Ensembl chr15:87,029,306...87,159,566 		JBrowse link
G CNGB3 cyclic nucleotide gated channel subunit beta 3 ISO ClinVar Annotator: match by term: STGD ClinVar PMID:15161866 PMID:15223812 PMID:15657609 PMID:15712225 PMID:16379026 More... NCBI chr 4:50,112,927...50,263,264
Ensembl chr 4:50,112,927...50,263,222 		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 chr 5:78,350,131...78,380,893
Ensembl chr 5:78,350,137...78,380,718 		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 chr10:20,137,246...20,332,539
Ensembl chr10:20,137,451...20,332,414 		JBrowse link
G CRX cone-rod homeobox ISO ClinVar Annotator: match by term: Stargardt disease ClinVar PMID:28492532 PMID:29555955 PMID:30718709 PMID:32533067 PMID:35934205 NCBI chr 6:53,506,410...53,509,858
Ensembl chr 6:53,506,410...53,512,190 		JBrowse link
G ELOVL4 ELOVL fatty acid elongase 4 ISO OMIM:248200 | OMIM:600110 | OMIM:603786 MouseDO NCBI chr 1:86,163,845...86,196,036
Ensembl chr 1:86,163,868...86,195,987 		JBrowse link
G EYS eyes shut homolog ISO ClinVar Annotator: match by term: Stargardt disease ClinVar PMID:9536098 PMID:17576681 PMID:23591405 PMID:25133751 PMID:28492532 More... NCBI chr 1:45,306,446...46,649,722 JBrowse link
G FLVCR1 FLVCR choline and heme transporter 1 ISO ClinVar Annotator: match by term: Stargardt disease ClinVar PMID:30718709 NCBI chr 9:130,543,911...130,570,486
Ensembl chr 9:130,541,660...130,570,702 		JBrowse link
G GPHN gephyrin ISO ClinVar Annotator: match by term: Stargardt disease ClinVar PMID:25741868 NCBI chr 7:90,345,726...90,913,625
Ensembl chr 7:90,346,714...90,916,455 		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 1:219,099,858...219,113,194
Ensembl chr 1:219,100,447...219,112,905 		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 chr 8:112,349,485...112,381,992
Ensembl chr 8:112,360,222...112,376,410 		JBrowse link
G MFSD8 major facilitator superfamily domain containing 8 ISO ClinVar Annotator: match by term: STGD ClinVar PMID:25333361 PMID:25741868 PMID:28041643 PMID:28492532 PMID:28586915 More... NCBI chr 8:96,925,063...96,972,390
Ensembl chr 8:96,925,081...96,972,383 		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 chr13:130,624,771...130,718,345
Ensembl chr13:130,624,796...130,719,083 		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 chr 3:110,209,100...110,220,608
Ensembl chr 3:110,209,535...110,218,348 		JBrowse link
G PROM1 prominin 1 ISO ClinVar Annotator: match by term: Stargardt disease ClinVar PMID:9536098 PMID:9634506 PMID:10205271 PMID:12657606 PMID:12659814 More... NCBI chr 8:11,215,659...11,331,442
Ensembl chr 8:11,215,663...11,317,312 		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 chr 7:37,788,547...37,805,142
Ensembl chr 7:37,790,178...37,805,142 		JBrowse link
G RDH12 retinol dehydrogenase 12 ISO ClinVar Annotator: match by term: Stargardt disease ClinVar PMID:25741868 NCBI chr 7:91,481,238...91,493,838
Ensembl chr 7:91,481,272...91,493,809 		JBrowse link
G RHO rhodopsin ISO ClinVar Annotator: match by term: STGD ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr13:68,908,578...68,913,651
Ensembl chr13:68,908,578...68,913,651 		JBrowse link
G SNRNP200 small nuclear ribonucleoprotein U5 subunit 200 ISO ClinVar Annotator: match by term: Stargardt disease ClinVar PMID:30718709 NCBI chr 3:46,929,066...46,960,420
Ensembl chr 3:46,929,136...46,960,957 		JBrowse link
G TULP1 TUB like protein 1 ISO ClinVar Annotator: match by term: Stargardt disease ClinVar PMID:25741868 NCBI chr 7:31,362,670...31,379,948
Ensembl chr 7:31,361,873...31,379,204 		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:mutation:exon:c.2041C>T(human)
DNA:mutations:multiple:		 OMIM
ClinVar
RGD		 PMID:8533764 PMID:9054934 PMID:9295268 PMID:9466990 PMID:9490294 More... RGD:7815045 RGD:7815046 RGD:7829716 NCBI chr 4:123,202,720...123,333,044
Ensembl chr 4:123,202,753...123,331,144 		JBrowse link
G BCS1L BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone ISO ClinVar Annotator: match by term: MACULAR DYSTROPHY WITH FLECKS, TYPE 1 ClinVar PMID:12215968 PMID:12910490 PMID:17314340 PMID:19162478 PMID:19389488 More... NCBI chr15:120,707,770...120,711,794
Ensembl chr15:120,707,814...120,711,793 		JBrowse link
G BEST1 bestrophin 1 ISO ClinVar Annotator: match by term: Fundus flavimaculatus ClinVar PMID:10854112 PMID:16754206 PMID:18179881 PMID:21192766 PMID:21273940 More... NCBI chr 2:9,538,082...9,550,975
Ensembl chr 2:9,538,085...9,549,873 		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 PMID:1347967 PMID:10888875 PMID:10958649 PMID:12815043 PMID:14757870 More... NCBI chr 4:50,112,927...50,263,264
Ensembl chr 4:50,112,927...50,263,222 		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 1:219,099,858...219,113,194
Ensembl chr 1:219,100,447...219,112,905 		JBrowse link
G MFSD8 major facilitator superfamily domain containing 8 ISO ClinVar Annotator: match by term: Stargardt disease 1 ClinVar PMID:25333361 PMID:25741868 PMID:28041643 PMID:28492532 PMID:28586915 More... NCBI chr 8:96,925,063...96,972,390
Ensembl chr 8:96,925,081...96,972,383 		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 chr13:130,624,771...130,718,345
Ensembl chr13:130,624,796...130,719,083 		JBrowse link
G PROM1 prominin 1 ISO ClinVar Annotator: match by term: Fundus flavimaculatus ClinVar PMID:10205271 PMID:16199547 PMID:17605048 PMID:19718270 PMID:24154662 More... NCBI chr 8:11,215,659...11,331,442
Ensembl chr 8:11,215,663...11,317,312 		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 chr 7:37,788,547...37,805,142
Ensembl chr 7:37,790,178...37,805,142 		JBrowse link
G RHO rhodopsin ISO ClinVar Annotator: match by term: Stargardt disease 1 ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr13:68,908,578...68,913,651
Ensembl chr13:68,908,578...68,913,651 		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 PMID:28492532 NCBI chr 4:123,202,720...123,333,044
Ensembl chr 4:123,202,753...123,331,144 		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 chr 1:86,163,845...86,196,036
Ensembl chr 1:86,163,868...86,195,987 		JBrowse link
G FGFR1 fibroblast growth factor receptor 1 ISO mRNA,protein:increased expression:optic cup: RGD PMID:22199241 RGD:10402074 NCBI chr15:48,053,895...48,106,634
Ensembl chr15:48,053,340...48,106,724 		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 1:86,163,845...86,196,036
Ensembl chr 1:86,163,868...86,195,987 		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 chr 8:11,215,659...11,331,442
Ensembl chr 8:11,215,663...11,317,312 		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 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263 		JBrowse link
G IL6R interleukin 6 receptor treatment ISO RGD PMID:24790857 RGD:10402815 NCBI chr 4:95,322,426...95,381,393
Ensembl chr 4:95,322,433...95,381,282 		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
OMIM:153700 | OMIM:153840 | OMIM:608161 | OMIM:616151 | OMIM:616152		 CTD
MouseDO		 NCBI chr 2:9,538,082...9,550,975
Ensembl chr 2:9,538,085...9,549,873 		JBrowse link
G HTRA1 HtrA serine peptidase 1 susceptibility ISO DNA:snp:promoter:g.-625G>A (rs11200638) (human) RGD PMID:22893068 RGD:7394745 NCBI chr14:132,043,044...132,103,590
Ensembl chr14:132,041,934...132,103,595 		JBrowse link
G IMPG1 interphotoreceptor matrix proteoglycan 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:89,836,013...89,986,530
Ensembl chr 1:89,836,050...89,987,397 		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 chr13:157,672,973...157,763,817
Ensembl chr13:157,675,265...157,759,266 		JBrowse link
G PRPH2 peripherin 2 ISO ClinVar Annotator: match by term: Vitelliform dystrophy | ClinVar Annotator: match by term: Vitelliform macular dystrophy ClinVar PMID:25741868 PMID:28492532 PMID:32531846 NCBI chr 7:37,788,547...37,805,142
Ensembl chr 7:37,790,178...37,805,142 		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 chr 2:9,538,082...9,550,975
Ensembl chr 2:9,538,085...9,549,873 		JBrowse link
G IMPG1 interphotoreceptor matrix proteoglycan 1 ISO ClinVar Annotator: match by term: Vitelliform macular dystrophy 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:89,836,013...89,986,530
Ensembl chr 1:89,836,050...89,987,397 		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:26467025 PMID:28492532 More... NCBI chr 5:11,365,603...11,456,475
Ensembl chr 5:11,360,660...11,456,472 		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 chr 2:9,538,082...9,550,975
Ensembl chr 2:9,538,085...9,549,873 		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 chr 2:9,535,051...9,537,979 JBrowse link
G IMPG1 interphotoreceptor matrix proteoglycan 1 ISO ClinVar Annotator: match by term: Vitelliform macular dystrophy 2 ClinVar PMID:25741868 NCBI chr 1:89,836,013...89,986,530
Ensembl chr 1:89,836,050...89,987,397 		JBrowse link
G IMPG2 interphotoreceptor matrix proteoglycan 2 ISO ClinVar Annotator: match by term: Vitelliform macular dystrophy 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr13:157,672,973...157,763,817
Ensembl chr13:157,675,265...157,759,266 		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 chr 7:37,788,547...37,805,142
Ensembl chr 7:37,790,178...37,805,142 		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 chr13:157,672,973...157,763,817
Ensembl chr13:157,675,265...157,759,266 		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 chr 7:37,788,547...37,805,142
Ensembl chr 7:37,790,178...37,805,142 		JBrowse link
Vitelliform Macular Dystrophy 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IMPG1 interphotoreceptor matrix proteoglycan 1 ISO ClinVar Annotator: match by term: Vitelliform macular dystrophy 4 OMIM
ClinVar		 PMID:16199547 PMID:23993198 PMID:25741868 PMID:28492532 PMID:28644393 More... NCBI chr 1:89,836,013...89,986,530
Ensembl chr 1:89,836,050...89,987,397 		JBrowse link
Vitelliform Macular Dystrophy 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDHR1 cadherin related family member 1 ISO ClinVar Annotator: match by term: Macular dystrophy, retinal, 5 ClinVar PMID:9536098 PMID:17576681 PMID:23591405 PMID:24033266 PMID:25741868 More... NCBI chr14:85,429,506...85,455,823
Ensembl chr14:85,429,952...85,455,822 		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:25741913 More... NCBI chr13:157,672,973...157,763,817
Ensembl chr13:157,675,265...157,759,266 		JBrowse link
X-linked atrophic macular degeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RPGR retinitis pigmentosa GTPase regulator ISO ClinVar Annotator: match by term: Macular degeneration, X-linked atrophic OMIM
ClinVar		 PMID:8673101 PMID:12160730 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr  X:34,238,961...34,522,814
Ensembl chr  X:34,228,124...34,296,589 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17412
    Diseases of the Aged 1232
      macular degeneration 151
        Concentric Annular Macular Dystrophy 3
        Geographic Atrophy 3
        Kuhnt-Junius degeneration + 30
        Macular Degeneration, Early-Onset 1
        Macular Dystrophy with Central Cone Involvement 1
        Macular Dystrophy, 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 + 72
        diabetic maculopathy + 0
        ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome 1
        macular retinal edema + 13
        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 17412
    Pathological Conditions, Signs and Symptoms 11799
      Signs and Symptoms 9738
        Neurologic Manifestations 9418
          sensory system disease 6507
            eye disease 3325
              eye degenerative disease 823
                retinal degeneration 822
                  macular degeneration 151
                    Concentric Annular Macular Dystrophy 3
                    Geographic Atrophy 3
                    Kuhnt-Junius degeneration + 30
                    Macular Degeneration, Early-Onset 1
                    Macular Dystrophy with Central Cone Involvement 1
                    Macular Dystrophy, 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 + 72
                    diabetic maculopathy + 0
                    ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome 1
                    macular retinal edema + 13
                    occult macular dystrophy 3
                    patterned macular dystrophy + 4
                    retinal macular dystrophy + 3
                    vitelliform macular dystrophy + 8
paths to the root