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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.


show annotations for term's descendants           Sort by:
macular degeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP binding cassette subfamily A member 4 susceptibility ISO ClinVar Annotator: match by term: Macular degeneration | ClinVar Annotator: match by term: Macular dystrophy
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:2964157 PMID:3196484 PMID:9054934 PMID:9295268 PMID:9466990 More... RGD:1598551 NCBI chr 2:212,849,470...212,986,730
Ensembl chr 2:212,755,803...212,986,729 		JBrowse link
G Adipor1 adiponectin receptor 1 ISO DNA:SNP:intron:c.-95+191A>G (rs10753929) (human) RGD PMID:22387454 RGD:8694465 NCBI chr13:48,411,438...48,431,251
Ensembl chr13:48,411,826...48,431,255 		JBrowse link
G Apoe apolipoprotein E susceptibility
no_association 		ISO DNA:polymorphism:exon:
DNA:haplotype:cds:
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:16453339 PMID:15118671 PMID:12567264 PMID:10859513 PMID:19384966 More... RGD:1331525, RGD:7495761, RGD:7771552, RGD:7771587, RGD:7775015 NCBI chr 1:88,481,889...88,485,816
Ensembl chr 1:88,481,385...88,485,855 		JBrowse link
G Atf6 activating transcription factor 6 ISO ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:28041643 NCBI chr13:85,460,312...85,639,959
Ensembl chr13:85,462,840...85,640,033 		JBrowse link
G Bad BCL2-associated agonist of cell death severity ISO protein:increased expression:vitreous humor RGD PMID:22773904 RGD:10053644 NCBI chr 1:213,562,719...213,572,034
Ensembl chr 1:213,562,187...213,572,034 		JBrowse link
G Bax BCL2 associated X, apoptosis regulator ISO RGD PMID:20054800 RGD:10043353 NCBI chr 1:105,076,472...105,081,906
Ensembl chr 1:105,076,473...105,086,429 		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 chr 7:48,637,324...48,640,395
Ensembl chr 7:48,637,356...48,640,391 		JBrowse link
G Best1 bestrophin 1 ISO Best macular dystrophy, OMIM:153700
ClinVar Annotator: match by term: Macular degeneration | ClinVar Annotator: match by term: Macular dystrophy 		ClinVar
RGD		 PMID:10331951 PMID:10394929 PMID:10798642 PMID:11241846 PMID:12565808 More... RGD:1599738 NCBI chr 1:216,054,395...216,071,012
Ensembl chr 1:216,054,395...216,070,974 		JBrowse link
G Bmp4 bone morphogenetic protein 4 ISO protein:increased expression:bruch's membrane,pigmented layer of retina: RGD PMID:19158083 RGD:8699495 NCBI chr15:22,098,191...22,113,145
Ensembl chr15:22,098,470...22,105,172 		JBrowse link
G C1qtnf5 C1q and TNF related 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16123441 NCBI chr 8:53,347,754...53,349,912
Ensembl chr 8:53,347,711...53,349,912 		JBrowse link
G C2 complement C2 susceptibility
no_association 		ISO DNA:polymorphism
DNA:missense mutation, SNP:cds, intron:p.E318D, c.1360+62G>T (rs9332739, rs547154) (human)
DNA:missense mutation:cds:p.E318D (rs9332739) (human)
DNA:SNP:intron:c.1360+62G>T (rs547154) (human)
DNA:SNP, haplotype:intron:c.1360+62G>T (rs547154) (human)
DNA:missense mutation, haplotype:cds:p.E318D (rs9332739) (human)
DNA:missense mutation, snp:cds, intron:p.E318D, c.1360+62G>T (rs9332739, rs547154) (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Macular degeneration 		CTD
ClinVar
RGD		 PMID:1577763 PMID:2249879 PMID:6308626 PMID:8181962 PMID:9536098 More... RGD:1600582, RGD:7411692, RGD:7411693, RGD:7411694, RGD:7411691, RGD:7411713, RGD:7411720, RGD:7411731 NCBI chr20:3,944,722...3,975,006
Ensembl chr20:3,955,776...3,981,740 		JBrowse link
G C3 complement C3 ISO DNA:missense mutation:cds:p.R102G (rs2230199) (human)
CTD Direct Evidence: marker/mechanism
DNA:polymorphism: :p.R102G (human)
ClinVar Annotator: match by term: Macular degeneration 		CTD
ClinVar
RGD		 PMID:17767156 PMID:24036949 PMID:24036950 PMID:24036952 PMID:25741868 More... RGD:7401268, RGD:7411715, RGD:7411723 NCBI chr 9:2,174,412...2,201,339
Ensembl chr 9:2,174,412...2,201,339 		JBrowse link
G C9 complement C9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24036952 NCBI chr 2:57,300,510...57,348,759
Ensembl chr 2:57,300,427...57,348,752 		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:25741868 PMID:28492532 PMID:30718709 NCBI chr  X:17,539,992...17,568,308
Ensembl chr  X:17,539,920...17,568,308 		JBrowse link
G Cacng3 calcium voltage-gated channel auxiliary subunit gamma 3 susceptibility ISO DNA:SNPs: : RGD PMID:21169531 RGD:13524556 NCBI chr 1:186,632,334...186,728,220
Ensembl chr 1:186,632,323...186,728,214 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 severity ISO mRNA,protein:increased expression:retina:
protein:increased expression:aqueous humor (human) 		RGD PMID:14566334 PMID:17652758 PMID:24142887 PMID:22172228 RGD:8548856, RGD:9491385, RGD:8661224, RGD:8549496 NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,503,077...67,504,875 		JBrowse link
G Ccr2 C-C motif chemokine receptor 2 no_association ISO protein:increased expression:plasma: RGD PMID:16857270 PMID:18172114 RGD:8657363, RGD:7794843 NCBI chr 8:132,611,883...132,619,106
Ensembl chr 8:132,611,410...132,620,059 		JBrowse link
G Cd36 CD36 molecule IAGP RGD PMID:18288886 RGD:2307226 NCBI chr 4:18,209,088...18,302,142 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 chr19:51,303,414...51,353,900
Ensembl chr19:51,300,083...51,354,257 		JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A ISO RGD PMID:20054800 RGD:10043353 NCBI chr20:7,150,820...7,161,373
Ensembl chr20:7,153,958...7,164,969 		JBrowse link
G Cdkn1b cyclin-dependent kinase inhibitor 1B ISO RGD PMID:20054800 RGD:10043353 NCBI chr 4:169,491,273...169,496,500
Ensembl chr 4:169,490,876...169,496,498 		JBrowse link
G Cerkl CERK like autophagy regulator ISO ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:25741868 NCBI chr 3:84,641,121...84,747,999
Ensembl chr 3:84,645,696...84,747,688 		JBrowse link
G Cfb complement factor B susceptibility
no_association 		ISO DNA:missense mutation:cds:p.R32Q (rs641153) (human)
DNA:snp:intron:c.1169-69T>C (rs541862) (human)
DNA:SNPs: :multiple
DNA:missense mutation, SNP:cds, intron:p.R32L, c.*500T>C (rs641153, rs2072633) (human)
DNA:missense mutation, haplotype:cds:p.L9H (rs4151667) (human)
DNA:missense mutations:cds:p.L9H, p.R32Q (rs4151667, rs641153) (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Macular degeneration 		CTD
ClinVar
RGD		 PMID:1577763 PMID:2249879 PMID:6308626 PMID:8181962 PMID:9616367 More... RGD:7411691, RGD:7411694, RGD:7411713, RGD:7411713, RGD:7411714, RGD:7411720, RGD:7411731 NCBI chr20:3,975,271...3,981,138
Ensembl chr20:3,955,776...3,981,740 		JBrowse link
G Cfh complement factor H susceptibility
no_association
disease_progression 		ISO ClinVar Annotator: match by term: Macular degeneration
CTD Direct Evidence: marker/mechanism
DNA:SNP:cds:p.Y402H(human)
DNA:SNP: :rs1061170 (Y402H)(human)
DNA:SNP: :rs800292(human)
DNA:SNP: :rs1061170(human)
DNA:SNP: :rs1410996(human)
DNA:SNPs,Haplotype:: 		ClinVar
CTD
RGD		 PMID:16518403 PMID:16754848 PMID:17554167 PMID:21909106 PMID:22019782 More... RGD:5684552, RGD:7365036, RGD:7365035, RGD:7365034, RGD:7365033, RGD:7365022, RGD:7365021, RGD:7364999, RGD:7364995 NCBI chr13:54,063,079...54,164,523
Ensembl chr13:54,062,531...54,164,532 		JBrowse link
G Cfi complement factor I disease_progression
no_association 		ISO DNA:missense mutation:cds:p.G119R (human)
CTD Direct Evidence: marker/mechanism
DNA:SNP:intron:g.110659067T>C (rs10033900) (human)
DNA:SNP:cds:c.345G>A (rs2285714) (human) 		CTD
RGD		 PMID:23685748 PMID:24036952 PMID:26691988 PMID:23685748 PMID:22815349 More... RGD:8662313, RGD:8662321, RGD:8662315 NCBI chr 2:221,062,206...221,104,790
Ensembl chr 2:221,062,212...221,104,786 		JBrowse link
G Cnga1 cyclic nucleotide gated channel subunit alpha 1 ISO ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:7479749 PMID:24033266 PMID:24265693 PMID:25326637 PMID:25741868 More... NCBI chr14:35,920,948...35,959,065
Ensembl chr14:35,926,854...35,959,056 		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 9:46,943,353...46,989,862
Ensembl chr 9:46,928,810...46,989,862 		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:25741868 PMID:28041643 PMID:28492532 More... NCBI chr 5:37,543,903...37,792,030
Ensembl chr 5:37,543,903...37,792,030 		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 chr20:11,473,645...11,582,111
Ensembl chr20:11,473,645...11,582,112 		JBrowse link
G Crb1 crumbs cell polarity complex component 1 ISO DNA:frameshift mutation
ClinVar Annotator: match by term: Macular dystrophy 		ClinVar
RGD		 PMID:10508521 PMID:11389483 PMID:12700176 PMID:15024725 PMID:15459956 More... RGD:8552788 NCBI chr13:53,352,932...53,540,019
Ensembl chr13:53,352,932...53,540,019 		JBrowse link
G Crp C-reactive protein susceptibility ISO protein:increased expression:serum: RGD PMID:20346514 PMID:16225921 RGD:9491758, RGD:9491760 NCBI chr13:87,694,062...87,695,978
Ensembl chr13:87,657,317...87,707,514 		JBrowse link
G Crx cone-rod homeobox ISO ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:28041643 NCBI chr 1:85,667,971...85,681,852
Ensembl chr 1:85,667,971...85,681,852 		JBrowse link
G Cryab crystallin, alpha B treatment IEP RGD PMID:25483086 RGD:13503350 NCBI chr 8:59,989,885...59,995,532
Ensembl chr 8:59,989,814...59,995,528 		JBrowse link
G Cx3cr1 C-X3-C motif chemokine receptor 1 no_association ISO DNA:missense mutation:cds:p.T280M (human)
DNA:missense mutation:cds:p.V249I (human)
DNA:missense mutations:cds:p.V249I, p.T280M (rs3732379, rs3732378) (human)
DNA:missense mutations:cds:p.V249I, p.T280M (human) 		RGD PMID:15944936 PMID:22816662 PMID:22816662 PMID:25050486 PMID:15208270 More... RGD:9479078, RGD:9491395, RGD:9491395, RGD:9491392, RGD:9491390, RGD:9491385 NCBI chr 8:128,661,294...128,679,048
Ensembl chr 8:128,654,833...128,685,983 		JBrowse link
G Efemp1 EGF containing fibulin extracellular matrix protein 1 no_association ISO protein:altered expression: : RGD PMID:17666404 PMID:12242346 PMID:17872905 RGD:10401788, RGD:10401794, RGD:10401789 NCBI chr14:106,811,769...106,890,961
Ensembl chr14:106,802,304...106,892,808 		JBrowse link
G Eln elastin ISO protein:increased expression:serum: RGD PMID:16123400 RGD:9585737 NCBI chr12:27,604,983...27,648,413
Ensembl chr12:27,604,680...27,648,413 		JBrowse link
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit susceptibility ISO DNA:missense mutations, haplotype:cds:p.D312N, p.K751Q (human) RGD PMID:20375340 RGD:10401085 NCBI chr 1:88,161,342...88,175,102
Ensembl chr 1:88,160,988...88,175,102 		JBrowse link
G Ercc6 ERCC excision repair 6, chromatin remodeling factor onset ISO ClinVar Annotator: match by term: Macular degeneration
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:16754848 PMID:18414213 PMID:25741868 PMID:28492532 PMID:21072178 RGD:10401096 NCBI chr16:7,771,311...7,841,895
Ensembl chr16:7,771,581...7,841,895 		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 1:43,511,685...43,904,454
Ensembl chr 1:43,644,392...43,900,354 		JBrowse link
G Fas Fas cell surface death receptor severity ISO protein:increased expression:choroid, epithelioid cell (human) RGD PMID:9488273 RGD:8662418 NCBI chr 1:241,212,155...241,245,774
Ensembl chr 1:241,205,935...241,246,104 		JBrowse link
G Fbln5 fibulin 5 ISO ClinVar Annotator: match by term: Macular degeneration ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 6:126,664,100...126,742,847
Ensembl chr 6:126,664,100...126,746,296 		JBrowse link
G Flt1 Fms related receptor tyrosine kinase 1 ISO RGD PMID:21731737 RGD:5684426 NCBI chr12:12,333,050...12,504,750
Ensembl chr12:12,333,430...12,504,750 		JBrowse link
G Fscn2 fascin actin-bundling protein 2, retinal ISO ClinVar Annotator: match by term: Macular degeneration ClinVar PMID:11527955 PMID:14609921 PMID:15994872 PMID:16280978 PMID:16799052 More... NCBI chr10:106,121,038...106,139,683
Ensembl chr10:106,133,144...106,139,683 		JBrowse link
G Gphn gephyrin ISO ClinVar Annotator: match by term: Macular degeneration | ClinVar Annotator: match by term: Macular dystrophy
ClinVar Annotator: match by term: Macular dystrophy | ClinVar Annotator: match by term: Macular dystrophy with or without cone dysfunction 		ClinVar PMID:16269441 PMID:17512964 PMID:19011012 PMID:21151602 PMID:22065924 More... NCBI chr 6:102,687,405...103,216,679
Ensembl chr 6:102,687,423...103,216,674 		JBrowse link
G Gsr glutathione-disulfide reductase ISO protein:decreased expression:blood RGD PMID:7803358 RGD:10401825 NCBI chr16:65,185,574...65,228,742
Ensembl chr16:65,185,574...65,228,394 		JBrowse link
G Gstm1 glutathione S-transferase mu 1 susceptibility ISO DNA:deletion:cds (human)
mRNA, protein:decreased expression:pigmented layer of retina (human) 		RGD PMID:21212706 PMID:22410570 RGD:7488954, RGD:12792247 NCBI chr 2:198,338,005...198,346,007
Ensembl chr 2:198,338,008...198,343,569 		JBrowse link
G Gstm5 glutathione S-transferase, mu 5 ISO mRNA, protein:decreased expression:pigmented layer of retina (human) RGD PMID:22410570 RGD:12792247 NCBI chr 2:198,219,769...198,222,732
Ensembl chr 2:198,219,647...198,222,731 		JBrowse link
G Guca1a guanylate cyclase activator 1A ISO ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:9425234 PMID:9651312 PMID:9702199 PMID:11146732 PMID:15953638 More... NCBI chr 9:21,080,782...21,096,221
Ensembl chr 9:21,086,642...21,096,221 		JBrowse link
G Gucy2e guanylate cyclase 2E ISO ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:10676808 PMID:11115851 PMID:11565546 PMID:12552567 PMID:15175914 More... NCBI chr10:54,453,753...54,478,639
Ensembl chr10:54,457,844...54,472,898 		JBrowse link
G Hic1 HIC ZBTB transcriptional repressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30742112 NCBI chr10:60,512,855...60,517,812
Ensembl chr10:60,500,565...60,523,448 		JBrowse link
G Hk1 hexokinase 1 ISO ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr20:30,773,222...30,874,814
Ensembl chr20:30,773,220...30,874,814 		JBrowse link
G Hmcn1 hemicentin 1 ISO ClinVar Annotator: match by term: Macular degeneration ClinVar PMID:25741868 PMID:28492532 NCBI chr13:65,165,532...65,634,681
Ensembl chr13:65,165,532...65,634,519 		JBrowse link
G Hspa8 heat shock protein family A (Hsp70) member 8 ISO mRNA: increased expression: white blood cells RGD PMID:19684010 RGD:6478714 NCBI chr 8:50,080,514...50,084,376
Ensembl chr 8:50,080,199...50,084,372 		JBrowse link
G Htra1 HtrA serine peptidase 1 susceptibility ISO DNA:snp:promoter:g.-1894G>A (rs3793917) (human)
ClinVar Annotator: match by term: Macular degeneration 		ClinVar
RGD		 PMID:18164066 PMID:18316707 PMID:20437615 PMID:25741868 PMID:26242991 More... RGD:7394695 NCBI chr 1:194,928,069...194,977,619
Ensembl chr 1:194,927,687...194,977,620 		JBrowse link
G Il17a interleukin 17A susceptibility ISO DNA:snps:promoter, 3' utr:c.-197G>A, c.*1249C>T (rs2275913, rs3748067) (human)
protein:increased expression: serum (human) 		RGD PMID:25028103 PMID:21762495 RGD:9068445, RGD:9068453 NCBI chr 9:30,640,844...30,644,331
Ensembl chr 9:30,640,844...30,644,331 		JBrowse link
G Impg1 interphotoreceptor matrix proteoglycan 1 ISO ClinVar Annotator: match by term: Macular degeneration ClinVar PMID:28041643 PMID:28492532 PMID:32581362 NCBI chr 8:90,123,821...90,269,903
Ensembl chr 8:90,123,821...90,269,903 		JBrowse link
G Impg2 interphotoreceptor matrix proteoglycan 2 ISO ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:20673862 PMID:24876279 PMID:28492532 PMID:30718709 NCBI chr11:57,787,914...57,887,450
Ensembl chr11:57,787,914...58,033,766 		JBrowse link
G Kdr kinase insert domain receptor treatment ISO DNA:SNPs:: rs4576072,rs6828477(human) RGD PMID:21731737 PMID:24365177 RGD:5684426, RGD:8549717 NCBI chr14:32,572,031...32,615,204
Ensembl chr14:32,572,049...32,615,192 		JBrowse link
G Mbd2 methyl-CpG binding domain protein 2 ISO RGD PMID:24939308 RGD:9588663 NCBI chr18:66,449,196...66,516,112
Ensembl chr18:66,449,358...66,516,111 		JBrowse link
G Mir184 microRNA 184 ISO CTD Direct Evidence: therapeutic CTD PMID:35690295 NCBI chr 8:99,222,982...99,223,058 JBrowse link
G Mir23a microRNA 23a ISO RNA:decreased expression:retinal pigment epithelial cell: RGD PMID:21693609 RGD:10053591 NCBI chr19:40,859,769...40,859,843 JBrowse link
G Mmp2 matrix metallopeptidase 2 susceptibility
no_association 		ISO DNA:silent mutation:cds:c.1380G>A (rs2287074) (human)
DNA:SNP:promoter:-1306C>T (rs243865) (human) 		RGD PMID:18359774 PMID:23536957 RGD:8657039, RGD:8657041 NCBI chr19:30,327,643...30,355,856
Ensembl chr19:30,327,643...30,355,856 		JBrowse link
G Mmp9 matrix metallopeptidase 9 severity ISO protein:increased expression:vitreous humor RGD PMID:22490043 PMID:22773904 RGD:7829793, RGD:10053644 NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:174,084,123...174,111,442 		JBrowse link
G Mt-nd4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 ISO DNA:SNP, haplotype:cds:m.11812A>G (human) RGD PMID:19434233 RGD:5508704 NCBI chr MT:10,160...11,537
Ensembl chr MT:10,145...11,522 		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 chr 3:81,001,529...81,031,165
Ensembl chr 3:81,001,529...81,029,090 		JBrowse link
G Nmnat1 nicotinamide nucleotide adenylyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22842229 NCBI chr 5:165,193,301...165,211,213
Ensembl chr 5:165,193,302...165,211,231 		JBrowse link
G Nqo1 NAD(P)H quinone dehydrogenase 1 ISO DNA:missense mutation, haplotype:cds:c.609C>T (rs1800566) (human) RGD PMID:23276910 RGD:7771558 NCBI chr19:52,205,374...52,220,267
Ensembl chr19:52,205,314...52,220,260 		JBrowse link
G Parp12 poly (ADP-ribose) polymerase family, member 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30742112 NCBI chr 4:68,793,411...68,851,214
Ensembl chr 4:68,806,100...68,850,541 		JBrowse link
G Pde6b phosphodiesterase 6B ISO ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr14:1,468,302...1,511,435
Ensembl chr14:1,468,302...1,511,435 		JBrowse link
G Pon1 paraoxonase 1 susceptibility
no_association 		ISO DNA:missense mutations:cds:p.L55M, p.Q192R (human)
DNA:missense mutations:cds:p.L55M, p.Q192R (rs662, rs854560) (human)
protein:decreased activity:serum (human)
DNA:snps:promoter, 5' utr:multiple (human) 		RGD PMID:23538572 PMID:15774926 PMID:15488805 PMID:23432778 PMID:22956172 RGD:8547549, RGD:8547659, RGD:8547582, RGD:8547561, RGD:8547551 NCBI chr 4:34,261,312...34,292,327
Ensembl chr 4:34,261,289...34,287,924 		JBrowse link
G Ppargc1a PPARG coactivator 1 alpha ISO DNA:snps:exon, 3' utr:g.76874A>G, g.*2381A>G (rs3736265, rs3774923) (human) RGD PMID:23335958 RGD:7241840 NCBI chr14:63,073,505...63,729,215
Ensembl chr14:63,273,189...63,729,213 		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 chr14:71,202,303...71,307,008
Ensembl chr14:71,202,336...71,307,002 		JBrowse link
G Prph2 peripherin 2 ISO DNA:polymorphism:cds:p.R172W(human)
ClinVar Annotator: match by term: Macular degeneration | ClinVar Annotator: match by term: Macular dystrophy
DNA:deletion:cds: 		ClinVar
RGD		 PMID:279751 PMID:8111389 PMID:8302543 PMID:8485575 PMID:8485576 More... RGD:8553205, RGD:8553231 NCBI chr 9:21,563,770...21,579,074
Ensembl chr 9:21,563,777...21,579,074 		JBrowse link
G Rdh12 retinol dehydrogenase 12 ISO ClinVar Annotator: match by term: Macular dystrophy | ClinVar Annotator: match by term: Macular dystrophy with or without cone dysfunction ClinVar PMID:16269441 PMID:17512964 PMID:19011012 PMID:21151602 PMID:22065924 More... NCBI chr 6:103,748,457...103,761,379
Ensembl chr 6:103,748,427...103,761,380 		JBrowse link
G Rlbp1 retinaldehyde binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30742112 NCBI chr 1:142,718,262...142,731,621
Ensembl chr 1:142,718,262...142,731,621 		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 chr 1:215,253,155...215,255,163
Ensembl chr 1:215,253,159...215,255,163 		JBrowse link
G Rpgr retinitis pigmentosa GTPase regulator ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Macular dystrophy 		CTD
ClinVar		 PMID:12160730 PMID:25741868 PMID:28041643 PMID:28492532 NCBI chr  X:15,238,961...15,299,004
Ensembl chr  X:15,239,159...15,298,999 		JBrowse link
G Samd7 sterile alpha motif domain containing 7 ISO ClinVar Annotator: match by term: Macular dystrophy with or without cone dysfunction ClinVar
OMIM		 PMID:38272031 NCBI chr 2:114,551,633...114,572,774
Ensembl chr 2:114,551,640...114,572,774 		JBrowse link
G Serpine1 serpin family E member 1 ISO protein:increased expression:plasma (human) RGD PMID:17675241 RGD:8547755 NCBI chr12:25,237,977...25,248,356
Ensembl chr12:25,237,952...25,248,357 		JBrowse link
G Serpinf1 serpin family F member 1 ISO
IEP 		protein:decreased expression:optic choroid (human)
mRNA:altered expression:retina (rat) 		RGD PMID:16019000 PMID:21191149 RGD:8554867, RGD:8655542 NCBI chr10:60,748,504...60,760,898
Ensembl chr10:60,748,506...60,760,898 		JBrowse link
G Serping1 serpin family G member 1 no_association
susceptibility 		ISO DNA:SNP:intron:c.1029+312T>C (rs11603020) (human)
DNA:SNPs:introns:c.52-130C>T, c.1030-865C>T (rs1005510, rs2511989) (human)
DNA:SNP, haplotype:intron:c.1030-865C>T (rs2511989) (human)
DNA:SNPs: :multiple 		RGD PMID:21852020 PMID:20606025 PMID:20606025 PMID:21526158 PMID:20576771 More... RGD:8661263, RGD:8661640, RGD:8661640, RGD:8661639, RGD:8661638, RGD:8661264 NCBI chr 3:90,249,410...90,259,299
Ensembl chr 3:90,249,423...90,258,717 		JBrowse link
G Sirt1 sirtuin 1 ISO mRNA:decreased expression:retina RGD PMID:21890195 RGD:9585773 NCBI chr20:25,305,953...25,328,000
Ensembl chr20:25,305,476...25,328,000 		JBrowse link
G Slc16a8 solute carrier family 16 member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26691988 NCBI chr 7:112,698,701...112,702,496
Ensembl chr 7:112,698,701...112,702,496 		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 chr20:11,583,928...11,601,959
Ensembl chr20:11,583,929...11,601,488 		JBrowse link
G Sod1 superoxide dismutase 1 susceptibility ISO protein:increased expression:serum (human) RGD PMID:16844785 PMID:23848218 RGD:1581207, RGD:8655651 NCBI chr11:42,942,742...42,948,399
Ensembl chr11:42,942,678...42,948,399 		JBrowse link
G Sod2 superoxide dismutase 2 ISO RGD PMID:17898259 RGD:8158047 NCBI chr 1:50,043,323...50,050,168
Ensembl chr 1:50,043,325...50,050,168 		JBrowse link
G Sqstm1 sequestosome 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23922739 NCBI chr10:35,026,598...35,037,750
Ensembl chr10:35,026,598...35,037,750 		JBrowse link
G Srsf10 serine and arginine rich splicing factor 10 ISO protein:increased expression:retina (human) RGD PMID:24098751 RGD:11038792 NCBI chr 5:153,372,307...153,386,520
Ensembl chr 5:153,372,316...153,386,513 		JBrowse link
G Thrb thyroid hormone receptor beta ISO ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:25741868 NCBI chr15:10,115,954...10,465,231
Ensembl chr15:10,115,954...10,313,680 		JBrowse link
G Timp3 TIMP metallopeptidase inhibitor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26691988 NCBI chr 7:19,408,539...19,459,558
Ensembl chr 7:19,409,631...19,459,547 		JBrowse link
G Tlr4 toll-like receptor 4 susceptibility
no_association 		ISO DNA:polymorphism:exon:p.D299G(human)
CTD Direct Evidence: marker/mechanism
DNA:SNPs: :p.D299G,T399I(human)
DNA:SNP:: rs4986790(human) 		CTD
RGD		 PMID:15829498 PMID:15829498 PMID:18172114 PMID:19628747 RGD:7794837, RGD:7794843, RGD:7794842 NCBI chr 5:85,161,247...85,174,882
Ensembl chr 5:85,161,192...85,175,007 		JBrowse link
G Tnfrsf10b TNF receptor superfamily member 10b ISO CTD Direct Evidence: marker/mechanism CTD PMID:21909106 NCBI chr15:51,249,883...51,278,091
Ensembl chr15:51,250,112...51,278,082 		JBrowse link
G Tra2b transformer 2 beta ISO protein:increased expression:retina (human) RGD PMID:24098751 RGD:11038792 NCBI chr11:92,293,403...92,311,651
Ensembl chr11:92,293,410...92,311,781 		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 6:123,927,657...124,025,354
Ensembl chr 6:123,927,907...123,982,117 		JBrowse link
G Unc119 unc-119 lipid binding chaperone ISO ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:26992781 PMID:35947183 NCBI chr10:63,735,927...63,741,404
Ensembl chr10:63,735,777...63,741,404 		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 chr13:102,368,783...103,035,230
Ensembl chr13:102,368,783...103,035,217 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:15788408 NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:22,439,392...22,468,194 		JBrowse link
G Zfyve26 zinc finger FYVE-type containing 26 ISO ClinVar Annotator: match by term: Macular dystrophy | ClinVar Annotator: match by term: Macular dystrophy with or without cone dysfunction ClinVar PMID:16269441 PMID:17512964 PMID:19011012 PMID:21151602 PMID:23591405 More... NCBI chr 6:103,764,864...103,828,520
Ensembl chr 6:103,765,510...103,828,463 		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:248200 PMID:3002862 PMID:3196484 PMID:3253185 PMID:4097981 More... NCBI chr 2:212,849,470...212,986,730
Ensembl chr 2:212,755,803...212,986,729 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISS MouseDO NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,503,077...67,504,875 		JBrowse link
G Ccr2 C-C motif chemokine receptor 2 ISS MouseDO NCBI chr 8:132,611,883...132,619,106
Ensembl chr 8:132,611,410...132,620,059 		JBrowse link
G Cd46 CD46 molecule ISS MouseDO NCBI chr13:109,104,122...109,134,903 JBrowse link
G Cfhr1 complement factor H-related 1 ISO ClinVar Annotator: match by term: Age-related macular degeneration ClinVar PMID:16998489 PMID:17367211 PMID:18006700 PMID:20843825 NCBI chr13:53,946,298...53,961,282
Ensembl chr13:53,919,927...53,961,303 		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 6:126,664,100...126,742,847
Ensembl chr 6:126,664,100...126,746,296 		JBrowse link
G Htra1 HtrA serine peptidase 1 susceptibility ISO DNA:snp:promoter:g.-1894G>A (rs3793917) (human) RGD PMID:22618592 RGD:7394695 NCBI chr 1:194,928,069...194,977,619
Ensembl chr 1:194,927,687...194,977,620 		JBrowse link
G Ppargc1a PPARG coactivator 1 alpha ISS MouseDO NCBI chr14:63,073,505...63,729,215
Ensembl chr14:63,273,189...63,729,213 		JBrowse link
age related macular degeneration 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoe apolipoprotein E ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Age related macular degeneration 1 | ClinVar Annotator: match by term: MACULOPATHY, AGE-RELATED, 1 		CTD
OMIM
ClinVar		 PMID:8488843 PMID:8750611 PMID:9279208 PMID:9360638 PMID:9603433 More... NCBI chr 1:88,481,889...88,485,816
Ensembl chr 1:88,481,385...88,485,855 		JBrowse link
G Cfhr1 complement factor H-related 1 susceptibility ISO CTD Direct Evidence: marker/mechanism CTD
OMIM		 NCBI chr13:53,946,298...53,961,282
Ensembl chr13:53,919,927...53,961,303 		JBrowse link
G Cryba1 crystallin, beta A1 ISS OMIM:603075 MouseDO NCBI chr10:63,106,465...63,113,020
Ensembl chr10:63,106,475...63,112,817 		JBrowse link
G Hmcn1 hemicentin 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Age related macular degeneration 1 | ClinVar Annotator: match by term: HMCN1-related condition | ClinVar Annotator: match by term: MACULOPATHY, AGE-RELATED, 1 		OMIM
CTD
ClinVar		 PMID:9536098 PMID:9715689 PMID:14570714 PMID:17216616 PMID:17576681 More... NCBI chr13:65,165,532...65,634,681
Ensembl chr13:65,165,532...65,634,519 		JBrowse link
G Vldlr very low density lipoprotein receptor ISS OMIM:603075 MouseDO NCBI chr 1:234,239,769...234,272,150
Ensembl chr 1:234,240,121...234,272,154 		JBrowse link
age related macular degeneration 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cst3 cystatin C ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Age related macular degeneration 11 		OMIM
CTD
ClinVar		 PMID:11815350 PMID:25741868 PMID:25893795 PMID:28492532 PMID:33116287 NCBI chr 3:156,790,061...156,794,116
Ensembl chr 3:156,790,079...156,793,937 		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
ISS 		ClinVar Annotator: match by term: Age related macular degeneration 12
OMIM:613784 		OMIM
ClinVar
MouseDO		 PMID:25741868 NCBI chr 8:128,661,294...128,679,048
Ensembl chr 8:128,654,833...128,685,983 		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 2:221,062,206...221,104,790
Ensembl chr 2:221,062,212...221,104,786 		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:3002862 PMID:9054934 PMID:9973280 PMID:10090887 PMID:10612508 More... NCBI chr 2:212,849,470...212,986,730
Ensembl chr 2:212,755,803...212,986,729 		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 chr20:3,944,722...3,975,006
Ensembl chr20:3,955,776...3,981,740 		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 chr20:3,975,271...3,981,138
Ensembl chr20:3,955,776...3,981,740 		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 chr 6:126,664,100...126,742,847
Ensembl chr 6:126,664,100...126,746,296 		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:2241452 PMID:9144525 PMID:9182899 PMID:9570574 PMID:9634479 More... NCBI chr 2:57,300,510...57,348,759
Ensembl chr 2:57,300,427...57,348,752 		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
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:248200 PMID:3002862 PMID:3196484 PMID:3253185 PMID:4097981 More... NCBI chr 2:212,849,470...212,986,730
Ensembl chr 2:212,755,803...212,986,729 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Macular degeneration, age-related, 3 		OMIM
CTD
ClinVar		 PMID:2965322 PMID:15269314 PMID:16374472 PMID:16652333 PMID:17035250 More... NCBI chr 6:126,664,100...126,742,847
Ensembl chr 6:126,664,100...126,746,296 		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
ISS 		CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Age related macular degeneration 4
OMIM:610698 		CTD
ClinVar
OMIM
MouseDO		 PMID:3418956 PMID:8072530 PMID:9536098 PMID:9811382 PMID:10577907 More... NCBI chr13:54,063,079...54,164,523
Ensembl chr13:54,062,531...54,164,532 		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:887325 PMID:1339317 PMID:9150142 PMID:9443879 PMID:9536098 More... NCBI chr16:7,771,311...7,841,895
Ensembl chr16:7,771,581...7,841,895 		JBrowse link
age related macular degeneration 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C3 complement C3 ISO DNA:SNPs, haplotype: :multiple RGD PMID:19899988 RGD:7401252 NCBI chr 9:2,174,412...2,201,339
Ensembl chr 9:2,174,412...2,201,339 		JBrowse link
G Cfb complement factor B no_association ISO DNA:missense mutations:cds:p.L9H, p.R32L (rs4151667, rs641153) (human) RGD PMID:19899988 RGD:7401252 NCBI chr20:3,975,271...3,981,138
Ensembl chr20:3,955,776...3,981,740 		JBrowse link
G Dct dopachrome tautomerase ISO ClinVar Annotator: match by term: Age related macular degeneration 7 ClinVar NCBI chr15:101,469,159...101,508,029
Ensembl chr15:101,469,159...101,508,029 		JBrowse link
G Htra1 HtrA serine peptidase 1 susceptibility
severity 		ISO ClinVar Annotator: match by term: Age related macular degeneration 7 | ClinVar Annotator: match by term: Susceptibility to neovascular type of age-related macular degeneration
CTD Direct Evidence: marker/mechanism
DNA:polymorphisms:multiple (human)
DNA:snp:promoter:g.-497C>T (rs2672598) (human)
DNA:snps:promoter, exons:g.-497C>T, g.+108G>T/C, g.5230C>T (rs2672598, rs2293870, rs1049331) (human)
DNA:snp:intron:g.IVS1+9824G>A (rs932275) (human) 		OMIM
ClinVar
CTD
RGD		 PMID:16199547 PMID:17053108 PMID:17053109 PMID:17568988 PMID:18511946 More... RGD:7394722, RGD:7394721, RGD:7394719, RGD:7394713, RGD:7387295 NCBI chr 1:194,928,069...194,977,619
Ensembl chr 1:194,927,687...194,977,620 		JBrowse link
G Mc1r melanocortin 1 receptor ISO ClinVar Annotator: match by term: Macular degeneration, age-related, neovascular type ClinVar NCBI chr19:68,360,950...68,363,877
Ensembl chr19:68,360,950...68,363,877 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Age related macular degeneration 9 | ClinVar Annotator: match by term: MACULAR DEGENERATION, AGE-RELATED, 9, SUSCEPTIBILITY TO 		CTD
OMIM
ClinVar		 PMID:1976733 PMID:6103091 PMID:7870343 PMID:9536098 PMID:12462331 More... NCBI chr 9:2,174,412...2,201,339
Ensembl chr 9:2,174,412...2,201,339 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Basal laminar drusen | ClinVar Annotator: match by term: DRUSEN, EARLY ADULT-ONSET, GROUPED 		CTD
ClinVar
OMIM		 PMID:3418956 PMID:8072530 PMID:9536098 PMID:9811382 PMID:10577907 More... NCBI chr13:54,063,079...54,164,523
Ensembl chr13:54,062,531...54,164,532 		JBrowse link
bestrophinopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Best1 bestrophin 1 ISO
ISS 		ClinVar Annotator: match by term: Autosomal recessive bestrophinopathy
OMIM:611809 		OMIM
ClinVar
MouseDO		 PMID:2133066 PMID:2162627 PMID:2855908 PMID:3401268 PMID:3597344 More... NCBI chr 1:216,054,395...216,071,012
Ensembl chr 1:216,054,395...216,070,974 		JBrowse link
G Crb1 crumbs cell polarity complex component 1 ISO ClinVar Annotator: match by term: Autosomal recessive bestrophinopathy ClinVar PMID:15623792 PMID:17128490 PMID:17297678 PMID:22065545 PMID:23379534 More... NCBI chr13:53,352,932...53,540,019
Ensembl chr13:53,352,932...53,540,019 		JBrowse link
G Fth1 ferritin heavy chain 1 ISO ClinVar Annotator: match by term: Autosomal recessive bestrophinopathy ClinVar PMID:2133066 PMID:10788642 PMID:10798642 PMID:18985398 PMID:20927214 More... NCBI chr 1:216,052,037...216,054,325
Ensembl chr 1:216,051,998...216,055,214 		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 9:21,563,770...21,579,074
Ensembl chr 9:21,563,777...21,579,074 		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
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:10420194 PMID:11544476 PMID:12445216 PMID:14708629 PMID:15805154 More... NCBI chr19:51,303,414...51,353,900
Ensembl chr19:51,300,083...51,354,257 		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
ISS 		DNA:missense mutation:cds:p.R345W (human)
ClinVar Annotator: match by term: Doyne honeycomb retinal dystrophy | ClinVar Annotator: match by term: MALATTIA LEVENTINESE
OMIM:126600
CTD Direct Evidence: marker/mechanism
protein:altered expression: : 		ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:10369267 PMID:11384588 PMID:11389162 PMID:12242346 PMID:15785976 More... RGD:1598888, RGD:10401794, RGD:10401791 NCBI chr14:106,811,769...106,890,961
Ensembl chr14:106,802,304...106,892,808 		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 9:21,563,770...21,579,074
Ensembl chr 9:21,563,777...21,579,074 		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
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9536098 PMID:10420194 PMID:13372143 PMID:14708629 PMID:15805154 More... NCBI chr19:51,303,414...51,353,900
Ensembl chr19:51,300,083...51,354,257 		JBrowse link
Geographic Atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl2 C-C motif chemokine ligand 2 ISO protein:increased expression:aqueous humor of eyeball RGD PMID:24142887 RGD:8661224 NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,503,077...67,504,875 		JBrowse link
G Ccr2 C-C motif chemokine receptor 2 ISO protein:increased expression:monocyte RGD PMID:24142887 RGD:8661224 NCBI chr 8:132,611,883...132,619,106
Ensembl chr 8:132,611,410...132,620,059 		JBrowse link
G Htra1 HtrA serine peptidase 1 ISO DNA:snp:promoter:g.-625G>A (rs11200638) (human) RGD PMID:17426452 RGD:7394693 NCBI chr 1:194,928,069...194,977,619
Ensembl chr 1:194,927,687...194,977,620 		JBrowse link
Kuhnt-Junius degeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Anxa5 annexin A5 ISO mRNA:increased expression:white blood cell: RGD PMID:19684010 RGD:6478714 NCBI chr 2:121,242,133...121,272,935
Ensembl chr 2:121,242,136...121,281,400 		JBrowse link
G Apoe apolipoprotein E susceptibility ISO DNA:polymorphism:exon: RGD PMID:9512153 PMID:16079201 RGD:7495762, RGD:7775015 NCBI chr 1:88,481,889...88,485,816
Ensembl chr 1:88,481,385...88,485,855 		JBrowse link
G C3 complement C3 ISO DNA:SNP: :rs2241394 (human) RGD PMID:22174912 RGD:7401249 NCBI chr 9:2,174,412...2,201,339
Ensembl chr 9:2,174,412...2,201,339 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 severity ISO protein:increased expression:aqueous humor of eyeball (human) RGD PMID:20937997 RGD:8548855 NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,503,077...67,504,875 		JBrowse link
G Ccr2 C-C motif chemokine receptor 2 ISO protein:increased expression:monocyte: RGD PMID:22789920 RGD:8661669 NCBI chr 8:132,611,883...132,619,106
Ensembl chr 8:132,611,410...132,620,059 		JBrowse link
G Cfi complement factor I ISO DNA:SNPs: :rs10033900, rs13117504 (human) RGD PMID:23900096 RGD:8662315 NCBI chr 2:221,062,206...221,104,790
Ensembl chr 2:221,062,212...221,104,786 		JBrowse link
G Crp C-reactive protein treatment ISO DNA:SNPs: :rs2808635,rs876538(human) RGD PMID:19692124 PMID:17400294 RGD:9491756, RGD:9491775 NCBI chr13:87,694,062...87,695,978
Ensembl chr13:87,657,317...87,707,514 		JBrowse link
G Eln elastin no_association ISO DNA:SNPintron: rs2301995(human) RGD PMID:22065928 PMID:18326737 RGD:7387224, RGD:9585729 NCBI chr12:27,604,983...27,648,413
Ensembl chr12:27,604,680...27,648,413 		JBrowse link
G Fgd6 FYVE, RhoGEF and PH domain containing 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27089177 NCBI chr 7:30,484,600...30,599,898
Ensembl chr 7:30,484,600...30,595,806 		JBrowse link
G Flt1 Fms related receptor tyrosine kinase 1 susceptibility
treatment 		ISO DNA:SNP::rs9943922, rs9508034, rs2281827, rs7324510, rs9513115 (human)
protein:increased expression:vitreous: 		RGD PMID:24812550 PMID:22868384 PMID:20609706 RGD:10402108, RGD:10402118, RGD:10402116 NCBI chr12:12,333,050...12,504,750
Ensembl chr12:12,333,430...12,504,750 		JBrowse link
G Gstm1 glutathione S-transferase mu 1 susceptibility ISO DNA:deletion, haplotype:: (human) RGD PMID:28221473 RGD:12792224 NCBI chr 2:198,338,005...198,346,007
Ensembl chr 2:198,338,008...198,343,569 		JBrowse link
G Gstp1 glutathione S-transferase pi 1 susceptibility ISO DNA:polymorphism::(rs1695)(human)
DNA:deletion, haplotype:: (human) 		RGD PMID:22487578 PMID:28221473 RGD:8547932, RGD:12792224 NCBI chr 1:210,767,237...210,770,242
Ensembl chr 1:210,767,237...210,769,705 		JBrowse link
G Gstt1 glutathione S-transferase theta 1 susceptibility ISO DNA:deletion, haplotype:: (human) RGD PMID:28221473 RGD:12792224 NCBI chr20:12,856,068...12,873,020
Ensembl chr20:12,856,083...12,873,019 		JBrowse link
G Htra1 HtrA serine peptidase 1 susceptibility ISO DNA:snp:promoter:g.-625G>A (rs11200638) (human)
DNA:silent mutations:exon:g.+102C>T, g.+108G>T/C (rs1049331, rs2293870) (human) 		RGD PMID:22800422 PMID:18164066 RGD:7387322, RGD:7394724 NCBI chr 1:194,928,069...194,977,619
Ensembl chr 1:194,927,687...194,977,620 		JBrowse link
G Igf1 insulin-like growth factor 1 ISO protein:increased expression:aqueous humor of eyeball:
mRNA,protein:increased expression:endothelial cell: 		RGD PMID:24106111 PMID:12714661 RGD:10045867, RGD:10045893 NCBI chr 7:24,169,608...24,249,446
Ensembl chr 7:24,130,137...24,246,764 		JBrowse link
G Igf1r insulin-like growth factor 1 receptor ISO mRNA,protein:increased expression:endothelial cell: RGD PMID:12714661 RGD:10045893 NCBI chr 1:130,959,787...131,248,664
Ensembl chr 1:130,959,997...131,248,664 		JBrowse link
G Igfbp2 insulin-like growth factor binding protein 2 ISO protein:increased expression:aqueous humor of eyeball: RGD PMID:24106111 RGD:10045867 NCBI chr 9:81,864,811...81,892,179
Ensembl chr 9:81,864,783...81,892,171 		JBrowse link
G Il6 interleukin 6 ISO protein:increased expression:aqueous humor: RGD PMID:22490043 RGD:7829793 NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,889,999...5,894,610 		JBrowse link
G Kdr kinase insert domain receptor susceptibility ISO DNA:SNP: :rs2071559(human) RGD PMID:22919317 RGD:8549752 NCBI chr14:32,572,031...32,615,204
Ensembl chr14:32,572,049...32,615,192 		JBrowse link
G Loxl1 lysyl oxidase-like 1 ISO DNA:SNP:exon:p.R141L (human) RGD PMID:21236409 RGD:7387334 NCBI chr 8:67,587,636...67,612,224
Ensembl chr 8:67,587,636...67,612,224 		JBrowse link
G Mapk8 mitogen-activated protein kinase 8 ISO RGD PMID:23341606 RGD:10412675 NCBI chr16:8,645,171...8,728,225
Ensembl chr16:8,645,198...8,728,427 		JBrowse link
G Mdm1 Mdm1 nuclear protein ISO DNA, mRNA:nonsense mutation, decreased expression:retina RGD PMID:18805803 RGD:10412062 NCBI chr 7:55,615,459...55,651,889
Ensembl chr 7:55,615,608...55,651,888 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:SNP:cds:rs1801133(human) RGD PMID:22065928 RGD:7387224 NCBI chr 5:163,748,346...163,768,141
Ensembl chr 5:163,748,321...163,768,105 		JBrowse link
G Nos3 nitric oxide synthase 3 susceptibility ISO DNA:snp:cds:c.894G>T (rs1799983) (human) RGD PMID:23276910 RGD:7771558 NCBI chr 4:11,686,088...11,706,604
Ensembl chr 4:11,686,268...11,706,664 		JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO protein:increased expression:plasma: RGD PMID:24334449 RGD:10449444 NCBI chr 7:113,419,882...113,438,343
Ensembl chr 7:113,420,710...113,438,343 		JBrowse link
G Pdgfrb platelet derived growth factor receptor beta ISO RGD PMID:22773904 RGD:10053644 NCBI chr18:56,770,348...56,809,228
Ensembl chr18:56,770,348...56,809,233 		JBrowse link
G Pon1 paraoxonase 1 susceptibility ISO protein:decreased activity:serum (human)
DNA:missense mutations:cds:p.L55M, p.Q192R (human) 		RGD PMID:19155603 PMID:20042177 RGD:8547556, RGD:8547668 NCBI chr 4:34,261,312...34,292,327
Ensembl chr 4:34,261,289...34,287,924 		JBrowse link
G Sod2 superoxide dismutase 2 susceptibility ISO DNA:polymorphism:cds:p.V16A(rs4880)(human) RGD PMID:18573360 RGD:8158102 NCBI chr 1:50,043,323...50,050,168
Ensembl chr 1:50,043,325...50,050,168 		JBrowse link
G Tlr2 toll-like receptor 2 ISO mRNA:increased expression:peripheral blood mononuclear cell: RGD PMID:23946637 RGD:8552827 NCBI chr 2:171,499,189...171,504,831
Ensembl chr 2:171,497,060...171,520,194 		JBrowse link
G Tlr3 toll-like receptor 3 ISO mRNA:increased expression:peripheral blood mononuclear cell: RGD PMID:23946637 RGD:8552827 NCBI chr16:53,554,916...53,572,321
Ensembl chr16:53,555,131...53,568,385 		JBrowse link
G Vegfa vascular endothelial growth factor A treatment ISO DNA:SNP: :rs943080(human)
DNA:SNP: :rs3025000(human) 		RGD PMID:23745581 PMID:23149126 RGD:7483607, RGD:7483627 NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:22,439,392...22,468,194 		JBrowse link
Macular Degeneration, Early-Onset term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbn2 fibrillin 2 ISO ClinVar Annotator: match by term: FBN2-related condition | ClinVar Annotator: match by term: Macular degeneration, early-onset OMIM
ClinVar		 PMID:9536098 PMID:11754102 PMID:16199547 PMID:16835936 PMID:17345643 More... NCBI chr18:53,696,197...53,901,992
Ensembl chr18:53,697,708...53,902,191 		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 2:125,749,994...125,784,689
Ensembl chr 2:125,749,994...125,785,919 		JBrowse link
macular retinal edema term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoh apolipoprotein H ISO associated with Proliferative Diabetic Retinopathy;protein:decreased expression:vitreous: RGD PMID:16080911 RGD:2315548 NCBI chr10:93,841,992...93,855,897
Ensembl chr10:93,841,966...93,857,127 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 severity ISO associated with Diabetic Retinopathy;protein:increased expression:vitreous humor
associated with Retinal Vein Occlusion;protein:increased expression:vitreous humor (human) 		RGD PMID:19118698 PMID:22066978 RGD:2306981, RGD:7829760 NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,503,077...67,504,875 		JBrowse link
G Clu clusterin ISO associated with Diabetes Mellitus, Type 2;protein:decreased expression:vitreous humor RGD PMID:23568601 RGD:9068396 NCBI chr15:44,336,619...44,375,861
Ensembl chr15:44,359,914...44,375,860 		JBrowse link
G Epo erythropoietin severity ISO RGD PMID:20664492 RGD:10400883 NCBI chr12:24,841,285...24,844,725
Ensembl chr12:24,841,285...24,844,725 		JBrowse link
G Fgf2 fibroblast growth factor 2 ISO associated with Diabetes Mellitus;protein:increased expression:aqueous humor RGD PMID:17505145 RGD:8655594 NCBI chr 2:122,164,454...122,218,796
Ensembl chr 2:122,164,454...122,224,493 		JBrowse link
G Flt1 Fms related receptor tyrosine kinase 1 ISO associated with Branch Retinal Vein Occlusion; protein:increased expression:aqueous humor: RGD PMID:24894397 RGD:10402117 NCBI chr12:12,333,050...12,504,750
Ensembl chr12:12,333,430...12,504,750 		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 6:98,357,788...98,405,068
Ensembl chr 6:98,359,910...98,405,323 		JBrowse link
G Il6 interleukin 6 ISO associated with Retinal vein occlusion;protein:increased expression:vitreous:
associated with central retinal vein occlusion;protein:increased expression:aqueous humor of eyeball (human) 		RGD PMID:22066978 PMID:35799735 RGD:7829760, RGD:155582223 NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,889,999...5,894,610 		JBrowse link
G Kdr kinase insert domain receptor ISO associated with retinal vein occlusion;protein:increased expression:vitreous humor RGD PMID:23411880 RGD:8549772 NCBI chr14:32,572,031...32,615,204
Ensembl chr14:32,572,049...32,615,192 		JBrowse link
G Mir210 microRNA 210 ISO associated with central retinal vein occlusion;miRNA:increased expression:aqueous humor of eyeball (human) RGD PMID:35799735 RGD:155582223 NCBI chr 1:205,755,923...205,756,032
Ensembl chr 1:205,755,917...205,756,034 		JBrowse link
G Ndp norrin cystine knot growth factor NDP ISO CTD Direct Evidence: marker/mechanism CTD PMID:29654250 NCBI chr  X:8,379,569...8,404,019
Ensembl chr  X:8,379,569...8,406,802 		JBrowse link
G Nos3 nitric oxide synthase 3 susceptibility ISO associated with Diabetes Mellitus, Type 2;DNA:snp, duplication:promoter, intron:g.-786T>C, g.IVS4?-?+27 (human) RGD PMID:15333482 RGD:7775044 NCBI chr 4:11,686,088...11,706,604
Ensembl chr 4:11,686,268...11,706,664 		JBrowse link
G Serpinf1 serpin family F member 1 treatment ISO associated with Branch Retinal Vein Occlusion;protein:decreased expression:vitreous humor (human)
associated with Diabetes Mellitus, Experimental; human protein in a rat model 		RGD PMID:20714746 PMID:21139695 RGD:8554903, RGD:8655546 NCBI chr10:60,748,504...60,760,898
Ensembl chr10:60,748,506...60,760,898 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO associated with retinal vein occlusion;protein:increased expression:vitreous humor
associated with central retinal vein occlusion;protein:increased expression:aqueous humor of eyeball (human)
CTD Direct Evidence: marker/mechanism
associated with Diabetes Mellitus;protein:increased expression:aqueous humor 		CTD
RGD		 PMID:20577866 PMID:23411880 PMID:35799735 PMID:17505145 RGD:8549772, RGD:155582223, RGD:8655594 NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:22,439,392...22,468,194 		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 5:40,017,607...40,029,658
Ensembl chr 5:40,017,607...40,038,207 		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 1:161,827,474...161,884,142
Ensembl chr 1:161,827,474...161,884,142 		JBrowse link
G Rho rhodopsin ISO ClinVar Annotator: match by term: Occult macular dystrophy ClinVar PMID:8486634 PMID:20591486 PMID:25265376 PMID:25741868 PMID:28492532 More... NCBI chr 4:150,653,205...150,658,367
Ensembl chr 4:150,653,205...150,658,367 		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:3158961 PMID:3442652 PMID:9536098 PMID:12724644 PMID:17576681 More... NCBI chr15:42,435,803...42,447,165
Ensembl chr15:42,435,803...42,447,165 		JBrowse link
patterned macular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctnna1 catenin alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26691986 NCBI chr18:27,002,330...27,135,009
Ensembl chr18:26,999,820...27,135,007 		JBrowse link
G Htra1 HtrA serine peptidase 1 susceptibility ISO DNA:snp:promoter:g.-625G>A (rs11200638) (human) RGD PMID:22893068 RGD:7394745 NCBI chr 1:194,928,069...194,977,619
Ensembl chr 1:194,927,687...194,977,620 		JBrowse link
G Mapkapk3 MAPK activated protein kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:116,808,429...116,842,228
Ensembl chr 8:116,808,429...116,842,228 		JBrowse link
G Prph2 peripherin 2 ISO DNA:polymorphism:cds:p.Y141C(human)
ClinVar Annotator: match by term: Butterfly-shaped pigment dystrophy of the fovea
CTD Direct Evidence: marker/mechanism
DNA:mutation:cds:p.G167D(human)
DNA:mutation:splice junction:
DNA:deletion,insertion:cds: 		ClinVar
CTD
RGD		 PMID:1427912 PMID:1684223 PMID:3441139 PMID:7493155 PMID:7825692 More... RGD:8553221, RGD:8554864, RGD:8553238, RGD:8553236 NCBI chr 9:21,563,770...21,579,074
Ensembl chr 9:21,563,777...21,579,074 		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
ISS 		ClinVar Annotator: match by term: Patterned macular dystrophy 1
OMIM:169150 		OMIM
ClinVar
MouseDO		 PMID:1427912 PMID:1684223 PMID:3441139 PMID:7493155 PMID:7710395 More... NCBI chr 9:21,563,770...21,579,074
Ensembl chr 9:21,563,777...21,579,074 		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
ISS 		ClinVar Annotator: match by term: CTNNA1-related condition | ClinVar Annotator: match by term: Patterned macular dystrophy 2
OMIM:608970 		OMIM
ClinVar
MouseDO		 PMID:5442145 PMID:9536098 PMID:17576681 PMID:25741868 PMID:26691986 More... NCBI chr18:27,002,330...27,135,009
Ensembl chr18:26,999,820...27,135,007 		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 chr 8:116,808,429...116,842,228
Ensembl chr 8:116,808,429...116,842,228 		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:3,766,509...3,772,578
Ensembl chr  X:3,766,510...3,771,135 		JBrowse link
G Timp2 TIMP metallopeptidase inhibitor 2 ISO RGD PMID:11004090 RGD:2312481 NCBI chr10:104,041,604...104,089,214
Ensembl chr10:104,041,604...104,089,214 		JBrowse link
G Timp3 TIMP metallopeptidase inhibitor 3 ISO RGD PMID:11004090 RGD:2312481 NCBI chr 7:19,408,539...19,459,558
Ensembl chr 7:19,409,631...19,459,547 		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 chr14:106,811,769...106,890,961
Ensembl chr14:106,802,304...106,892,808 		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 chr 9:21,563,770...21,579,074
Ensembl chr 9:21,563,777...21,579,074 		JBrowse link
retinal drusen term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfh complement factor H susceptibility ISO DNA:SNPs: :p.Y402H, rs1410996(human)
DNA:mutations:multiple: 		RGD PMID:18936151 PMID:22491393 RGD:7365005, RGD:7365010 NCBI chr13:54,063,079...54,164,523
Ensembl chr13:54,062,531...54,164,532 		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 chr14:71,202,303...71,307,008
Ensembl chr14:71,202,336...71,307,002 		JBrowse link
retinal macular dystrophy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prom1 prominin 1 ISO ClinVar Annotator: match by term: Retinal macular dystrophy type 2
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:3442652 PMID:9634506 PMID:10205271 PMID:12657606 PMID:12659814 More... NCBI chr14:71,202,303...71,307,008
Ensembl chr14:71,202,336...71,307,002 		JBrowse link
retinal macular dystrophy 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clec3b C-type lectin domain family 3, member B ISO ClinVar Annotator: match by term: Macular dystrophy, retinal, 4 OMIM
ClinVar		 PMID:35331648 NCBI chr 8:131,687,575...131,693,292 JBrowse link
retinitis pigmentosa 91 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP binding cassette subfamily A member 4 ISO DNA:mutations:multiple:
ClinVar Annotator: match by term: Macular dystrophy, concentric annular 		ClinVar
RGD		 PMID:10090887 PMID:10958761 PMID:10958763 PMID:15614537 PMID:18285826 More... RGD:7829711 NCBI chr 2:212,849,470...212,986,730
Ensembl chr 2:212,755,803...212,986,729 		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 1:85,667,971...85,681,852
Ensembl chr 1:85,667,971...85,681,852 		JBrowse link
G Impg1 interphotoreceptor matrix proteoglycan 1 ISO ClinVar Annotator: match by term: Benign concentric annular macular dystrophy
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:4412179 PMID:14691150 PMID:16199547 PMID:23993198 PMID:25741868 More... NCBI chr 8:90,123,821...90,269,903
Ensembl chr 8:90,123,821...90,269,903 		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 Annotator: match by term: TIMP3-related condition ClinVar PMID:7148944 PMID:7894485 PMID:8634721 PMID:8639088 PMID:8919688 More... NCBI chr 7:19,244,032...19,701,571
Ensembl chr 7:19,264,094...19,696,510 		JBrowse link
G Timp3 TIMP metallopeptidase inhibitor 3 ISO
ISS 		ClinVar Annotator: match by term: Sorsby fundus dystrophy | ClinVar Annotator: match by term: TIMP3-related condition
OMIM:136900
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:7148944 PMID:7894485 PMID:8634721 PMID:8639088 PMID:8919688 More... NCBI chr 7:19,408,539...19,459,558
Ensembl chr 7:19,409,631...19,459,547 		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
ISS 		CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: STGD | ClinVar Annotator: match by term: Stargardt disease | ClinVar Annotator: match by term: Stargardt's disease
OMIM:248200 | OMIM:600110 | OMIM:603786 		CTD
ClinVar
MouseDO		 PMID:248200 PMID:2552515 PMID:2916264 PMID:2955595 PMID:2984763 More... NCBI chr 2:212,849,470...212,986,730
Ensembl chr 2:212,755,803...212,986,729 		JBrowse link
G Abcb4 ATP binding cassette subfamily B member 4 ISO ClinVar Annotator: match by term: STGD | ClinVar Annotator: match by term: Stargardt disease ClinVar PMID:12891548 PMID:18482588 PMID:19467940 PMID:20537830 PMID:23022423 More... NCBI chr 4:26,106,895...26,164,440 JBrowse link
G Best1 bestrophin 1 ISO ClinVar Annotator: match by term: Stargardt disease ClinVar PMID:10854112 PMID:16754206 PMID:18179881 PMID:21109774 PMID:21192766 More... NCBI chr 1:216,054,395...216,071,012
Ensembl chr 1:216,054,395...216,070,974 		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 chr 3:84,641,121...84,747,999
Ensembl chr 3:84,645,696...84,747,688 		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 Annotator: match by term: Stargardt's disease 		ClinVar PMID:3442652 PMID:15161866 PMID:15223812 PMID:15657609 PMID:15712225 More... NCBI chr 5:37,543,903...37,792,030
Ensembl chr 5:37,543,903...37,792,030 		JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Stargardt disease ClinVar PMID:16752401 PMID:20513134 PMID:25741868 PMID:28492532 PMID:33295219 NCBI chr 7:130,977,561...131,006,627
Ensembl chr 7:130,977,561...131,006,627 		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 chr13:53,352,932...53,540,019
Ensembl chr13:53,352,932...53,540,019 		JBrowse link
G Crx cone-rod homeobox ISO ClinVar Annotator: match by term: Stargardt disease ClinVar PMID:25741868 PMID:28492532 PMID:29555955 PMID:30718709 PMID:32533067 More... NCBI chr 1:85,667,971...85,681,852
Ensembl chr 1:85,667,971...85,681,852 		JBrowse link
G Elovl4 ELOVL fatty acid elongase 4 ISS OMIM:248200 | OMIM:600110 | OMIM:603786 MouseDO NCBI chr 8:93,582,930...93,609,479
Ensembl chr 8:93,582,930...93,609,678 		JBrowse link
G Flvcr1 FLVCR choline and heme transporter 1 ISO ClinVar Annotator: match by term: Stargardt disease ClinVar PMID:30718709 NCBI chr13:105,117,402...105,139,780
Ensembl chr13:105,117,402...105,139,759 		JBrowse link
G Gphn gephyrin ISO ClinVar Annotator: match by term: Stargardt disease ClinVar PMID:25741868 NCBI chr 6:102,687,405...103,216,679
Ensembl chr 6:102,687,423...103,216,674 		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 1:234,409,067...234,485,894
Ensembl chr 1:234,413,096...234,495,298 		JBrowse link
G Lama4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: STGD ClinVar PMID:25326637 PMID:28492532 NCBI chr20:43,946,898...44,087,972
Ensembl chr20:43,946,898...44,087,972 		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 2:221,011,458...221,034,568
Ensembl chr 2:221,011,595...221,031,747 		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 2:125,749,994...125,784,689
Ensembl chr 2:125,749,994...125,785,919 		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 chr11:84,612,943...84,690,025
Ensembl chr11:84,615,340...84,689,955 		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 6:29,469,232...29,478,541
Ensembl chr 6:29,469,817...29,478,541 		JBrowse link
G Prom1 prominin 1 ISO ClinVar Annotator: match by term: Stargardt disease
ClinVar Annotator: match by term: STGD | ClinVar Annotator: match by term: Stargardt disease 		ClinVar PMID:9536098 PMID:9634506 PMID:10205271 PMID:12657606 PMID:12659814 More... NCBI chr14:71,202,303...71,307,008
Ensembl chr14:71,202,336...71,307,002 		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:3441139 PMID:4142662 PMID:7493155 PMID:7519821 More... NCBI chr 9:21,563,770...21,579,074
Ensembl chr 9:21,563,777...21,579,074 		JBrowse link
G Rdh12 retinol dehydrogenase 12 ISO ClinVar Annotator: match by term: Stargardt disease ClinVar PMID:25741868 NCBI chr 6:103,748,457...103,761,379
Ensembl chr 6:103,748,427...103,761,380 		JBrowse link
G Rho rhodopsin ISO ClinVar Annotator: match by term: STGD ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr 4:150,653,205...150,658,367
Ensembl chr 4:150,653,205...150,658,367 		JBrowse link
G Rp1l1 RP1 like 1 ISO ClinVar Annotator: match by term: Stargardt disease ClinVar PMID:25741868 NCBI chr15:42,435,803...42,447,165
Ensembl chr15:42,435,803...42,447,165 		JBrowse link
G Snrnp200 small nuclear ribonucleoprotein U5 subunit 200 ISO ClinVar Annotator: match by term: Stargardt disease ClinVar PMID:30718709 NCBI chr 3:134,882,173...134,911,512
Ensembl chr 3:134,882,173...134,911,500 		JBrowse link
G Tulp1 TUB like protein 1 ISO ClinVar Annotator: match by term: Stargardt disease ClinVar PMID:25741868 PMID:32531858 NCBI chr20:6,413,901...6,425,833
Ensembl chr20:6,413,901...6,425,833 		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:248200 PMID:2552515 PMID:2916264 PMID:2955595 PMID:2964157 More... RGD:7829716, RGD:7815046, RGD:7815046, RGD:7815045 NCBI chr 2:212,849,470...212,986,730
Ensembl chr 2:212,755,803...212,986,729 		JBrowse link
G Abcb4 ATP binding cassette subfamily B member 4 ISO ClinVar Annotator: match by term: Stargardt disease 1 ClinVar PMID:12891548 PMID:18482588 PMID:20537830 PMID:23533021 PMID:25741868 More... NCBI chr 4:26,106,895...26,164,440 JBrowse link
G Bcs1l BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone ISO ClinVar Annotator: match by term: MACULAR DYSTROPHY WITH FLECKS, TYPE 1 ClinVar PMID:12215968 PMID:12910490 PMID:17314340 PMID:19162478 PMID:19389488 More... NCBI chr 9:83,614,045...83,618,052
Ensembl chr 9:83,613,975...83,618,257 		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 chr 1:216,054,395...216,071,012
Ensembl chr 1:216,054,395...216,070,974 		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:3442652 PMID:10888875 PMID:10958649 PMID:12815043 More... NCBI chr 5:37,543,903...37,792,030
Ensembl chr 5:37,543,903...37,792,030 		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 1:234,409,067...234,485,894
Ensembl chr 1:234,413,096...234,495,298 		JBrowse link
G Lama4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: MACULAR DYSTROPHY WITH FLECKS, TYPE 1 | ClinVar Annotator: match by term: Stargardt disease 1 ClinVar PMID:25326637 PMID:25741868 PMID:28492532 NCBI chr20:43,946,898...44,087,972
Ensembl chr20:43,946,898...44,087,972 		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 2:125,749,994...125,784,689
Ensembl chr 2:125,749,994...125,785,919 		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 chr11:84,612,943...84,690,025
Ensembl chr11:84,615,340...84,689,955 		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 chr14:71,202,303...71,307,008
Ensembl chr14:71,202,336...71,307,002 		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:3441139 PMID:4142662 PMID:7493155 PMID:7519821 More... NCBI chr 9:21,563,770...21,579,074
Ensembl chr 9:21,563,777...21,579,074 		JBrowse link
G Rho rhodopsin ISO ClinVar Annotator: match by term: Stargardt disease 1 ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr 4:150,653,205...150,658,367
Ensembl chr 4:150,653,205...150,658,367 		JBrowse link
G Rp1l1 RP1 like 1 ISO ClinVar Annotator: match by term: Fundus flavimaculatus ClinVar PMID:25741868 NCBI chr15:42,435,803...42,447,165
Ensembl chr15:42,435,803...42,447,165 		JBrowse link
G Tgfbr1 transforming growth factor, beta receptor 1 ISO ClinVar Annotator: match by term: MACULAR DYSTROPHY WITH FLECKS, TYPE 1 ClinVar PMID:25326637 PMID:28492532 NCBI chr 5:66,449,348...66,506,371
Ensembl chr 5:66,449,293...66,527,260 		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:3002862 PMID:9054934 PMID:9503029 PMID:9781034 PMID:9973280 More... NCBI chr 2:212,849,470...212,986,730
Ensembl chr 2:212,755,803...212,986,729 		JBrowse link
G Elovl4 ELOVL fatty acid elongase 4 ISO ClinVar Annotator: match by term: STARGARDT-LIKE MACULAR DYSTROPHY, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Stargardt disease 3
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:5048218 PMID:11138005 PMID:15028284 PMID:15557430 PMID:22948568 More... NCBI chr 8:93,582,930...93,609,479
Ensembl chr 8:93,582,930...93,609,678 		JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 ISO mRNA,protein:increased expression:optic cup: RGD PMID:22199241 RGD:10402074 NCBI chr16:73,194,631...73,249,855
Ensembl chr16:73,194,631...73,249,855 		JBrowse link
Stargardt Disease 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elovl4 ELOVL fatty acid elongase 4 ISO ClinVar Annotator: match by term: Stargardt Disease, Dominant ClinVar NCBI chr 8:93,582,930...93,609,479
Ensembl chr 8:93,582,930...93,609,678 		JBrowse link
G Prom1 prominin 1 ISO ClinVar Annotator: match by term: Stargardt Disease, Dominant | ClinVar Annotator: match by term: Stargardt disease 4
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:3181667 PMID:3253185 PMID:3442652 PMID:9634506 PMID:10205271 More... NCBI chr14:71,202,303...71,307,008
Ensembl chr14:71,202,336...71,307,002 		JBrowse link
Subretinal Fibrosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il6 interleukin 6 ISO RGD PMID:24790857 RGD:10402815 NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,889,999...5,894,610 		JBrowse link
G Il6r interleukin 6 receptor treatment ISO RGD PMID:24790857 RGD:10402815 NCBI chr 2:177,582,020...177,646,705
Ensembl chr 2:177,582,164...177,645,221 		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
ISS 		CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: VITELLIFORM MACULAR DYSTROPHY, JUVENILE-ONSET
OMIM:153700 | OMIM:153840 | OMIM:608161 | OMIM:616151 | OMIM:616152 		CTD
ClinVar
MouseDO		 PMID:2133066 PMID:10788642 PMID:10798642 PMID:10854112 PMID:14615048 More... NCBI chr 1:216,054,395...216,071,012
Ensembl chr 1:216,054,395...216,070,974 		JBrowse link
G Fth1 ferritin heavy chain 1 ISO ClinVar Annotator: match by term: VITELLIFORM MACULAR DYSTROPHY, JUVENILE-ONSET ClinVar PMID:2133066 PMID:10788642 PMID:10798642 PMID:14615048 PMID:18985398 More... NCBI chr 1:216,052,037...216,054,325
Ensembl chr 1:216,051,998...216,055,214 		JBrowse link
G Htra1 HtrA serine peptidase 1 susceptibility ISO DNA:snp:promoter:g.-625G>A (rs11200638) (human) RGD PMID:22893068 RGD:7394745 NCBI chr 1:194,928,069...194,977,619
Ensembl chr 1:194,927,687...194,977,620 		JBrowse link
G Impg1 interphotoreceptor matrix proteoglycan 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:90,123,821...90,269,903
Ensembl chr 8:90,123,821...90,269,903 		JBrowse link
G Impg2 interphotoreceptor matrix proteoglycan 2 ISO
ISS 		CTD Direct Evidence: marker/mechanism
OMIM:153700 | OMIM:153840 | OMIM:608161 | OMIM:616151 | OMIM:616152 		CTD
MouseDO		 NCBI chr11:57,787,914...57,887,450
Ensembl chr11:57,787,914...58,033,766 		JBrowse link
G Prph2 peripherin 2 ISO DNA:polymorphism:cds:p.Y141C(human)
ClinVar Annotator: match by term: VITELLIFORM MACULAR DYSTROPHY, JUVENILE-ONSET | ClinVar Annotator: match by term: Vitelliform macular dystrophy
CTD Direct Evidence: marker/mechanism
DNA:deletion:cds:112del(human)
DNA:polymorphisms,haplotype:cds:p.E304Q,G338D(human) 		ClinVar
CTD
RGD		 PMID:1427912 PMID:4142662 PMID:7493155 PMID:7519821 PMID:7862413 More... RGD:8553221, RGD:8554859, RGD:8553239 NCBI chr 9:21,563,770...21,579,074
Ensembl chr 9:21,563,777...21,579,074 		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:10737974 PMID:10854112 PMID:17065513 PMID:18289629 PMID:21436265 More... NCBI chr 1:216,054,395...216,071,012
Ensembl chr 1:216,054,395...216,070,974 		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 8:90,123,821...90,269,903
Ensembl chr 8:90,123,821...90,269,903 		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 chr 7:111,224,291...111,304,963
Ensembl chr 7:111,224,291...111,304,963 		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:2868784 PMID:3145629 More... NCBI chr 1:216,054,395...216,071,012
Ensembl chr 1:216,054,395...216,070,974 		JBrowse link
G Fth1 ferritin heavy chain 1 ISO ClinVar Annotator: match by term: Vitelliform macular dystrophy 2 ClinVar PMID:2133066 PMID:10394929 PMID:10453731 PMID:10737974 PMID:10788642 More... NCBI chr 1:216,052,037...216,054,325
Ensembl chr 1:216,051,998...216,055,214 		JBrowse link
G Impg1 interphotoreceptor matrix proteoglycan 1 ISO ClinVar Annotator: match by term: Vitelliform macular dystrophy 2 ClinVar PMID:25741868 NCBI chr 8:90,123,821...90,269,903
Ensembl chr 8:90,123,821...90,269,903 		JBrowse link
G Impg2 interphotoreceptor matrix proteoglycan 2 ISO ClinVar Annotator: match by term: Vitelliform macular dystrophy 2 ClinVar PMID:25741868 PMID:28492532 PMID:32531858 NCBI chr11:57,787,914...57,887,450
Ensembl chr11:57,787,914...58,033,766 		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 9:21,563,770...21,579,074
Ensembl chr 9:21,563,777...21,579,074 		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 chr11:57,787,914...57,887,450
Ensembl chr11:57,787,914...58,033,766 		JBrowse link
G Prph2 peripherin 2 ISO ClinVar Annotator: match by term: Adult onset vitelliform dystrophy | ClinVar Annotator: match by term: Vitelliform macular dystrophy 3 OMIM
ClinVar		 PMID:1427912 PMID:3441139 PMID:4142662 PMID:7519821 PMID:7862413 More... NCBI chr 9:21,563,770...21,579,074
Ensembl chr 9:21,563,777...21,579,074 		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: IMPG1-related condition | ClinVar Annotator: match by term: Vitelliform macular dystrophy 4 OMIM
ClinVar		 PMID:16199547 PMID:23993198 PMID:25741868 PMID:28492532 PMID:28644393 More... NCBI chr 8:90,123,821...90,269,903
Ensembl chr 8:90,123,821...90,269,903 		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 chr16:12,863,696...12,883,579
Ensembl chr16:12,863,696...12,883,579 		JBrowse link
G Impg2 interphotoreceptor matrix proteoglycan 2 ISO ClinVar Annotator: match by term: IMPG2-related condition | ClinVar Annotator: match by term: IMPG2-related recessive retinopathy | ClinVar Annotator: match by term: Vitelliform macular dystrophy 5 OMIM
ClinVar		 PMID:2864439 PMID:9536098 PMID:17576681 PMID:20673862 PMID:24876279 More... NCBI chr11:57,787,914...57,887,450
Ensembl chr11:57,787,914...58,033,766 		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:15,238,961...15,299,004
Ensembl chr  X:15,239,159...15,298,999 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19150
    Diseases of the Aged 1480
      macular degeneration 162
        Geographic Atrophy 3
        Kuhnt-Junius degeneration + 32
        Macular Degeneration, Early-Onset 1
        Macular Dystrophy with Central Cone Involvement 1
        Macular Dystrophy, Fenestrated Sheen Type 0
        Myoclonic Epilepsy, Congenital Deafness, Macular Dystrophy, and Psychiatric Disorders 0
        Sorsby's fundus dystrophy 2
        Stargardt Macular Degeneration Absent or Hypoplastic Corpus Callosum Mental Retardation and Dysmorphic Features 0
        X-Linked Macular Dystrophy + 1
        bestrophinopathy 4
        congenital hypotrichosis with juvenile macular dystrophy 1
        degeneration of macula and posterior pole + 79
        diabetic maculopathy + 0
        ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome 1
        macular retinal edema + 14
        occult macular dystrophy 3
        patterned macular dystrophy + 4
        retinal macular dystrophy + 3
        retinitis pigmentosa 91 3
        vitelliform macular dystrophy + 8
Path 2
Term Annotations click to browse term
  disease 19150
    Pathological Conditions, Signs and Symptoms 13670
      Signs and Symptoms 11240
        Neurologic Manifestations 10485
          sensory system disease 7403
            eye disease 3738
              eye degenerative disease 931
                retinal degeneration 929
                  macular degeneration 162
                    Geographic Atrophy 3
                    Kuhnt-Junius degeneration + 32
                    Macular Degeneration, Early-Onset 1
                    Macular Dystrophy with Central Cone Involvement 1
                    Macular Dystrophy, Fenestrated Sheen Type 0
                    Myoclonic Epilepsy, Congenital Deafness, Macular Dystrophy, and Psychiatric Disorders 0
                    Sorsby's fundus dystrophy 2
                    Stargardt Macular Degeneration Absent or Hypoplastic Corpus Callosum Mental Retardation and Dysmorphic Features 0
                    X-Linked Macular Dystrophy + 1
                    bestrophinopathy 4
                    congenital hypotrichosis with juvenile macular dystrophy 1
                    degeneration of macula and posterior pole + 79
                    diabetic maculopathy + 0
                    ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome 1
                    macular retinal edema + 14
                    occult macular dystrophy 3
                    patterned macular dystrophy + 4
                    retinal macular dystrophy + 3
                    retinitis pigmentosa 91 3
                    vitelliform macular dystrophy + 8
paths to the root