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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:macular degeneration
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Accession:DOID:4448 term browser browse the term
Definition:A retinal degeneration characterized by gradual deterioration of light-sensing cells in the tissues at the back of the eye and has_symptom vision loss. (DO)
Synonyms:exact_synonym: MACULAR DYSTROPHY WITH OR WITHOUT CONE DYSFUNCTION;   macular degeneration of retina;   macular degenerations;   macular dystrophies;   macular dystrophy
 narrow_synonym: inherited macular dystrophy;   myopic macular degeneration
 primary_id: MESH:D008268
 xref: EFO:0001365;   EFO:0009201;   EFO:0009606;   EFO:0020937;   MIM:620762;   NCI:C123330;   ORDO:279
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
macular degeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA4 ATP binding cassette subfamily A member 4 susceptibility IAGP
EXP		 ClinVar Annotator: match by term: Macular degeneration | ClinVar Annotator: match by term: Macular dystrophy
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:9054934 PMID:9295268 PMID:9466990 PMID:9536098 PMID:9781034 More... RGD:1598551 NCBI chr 1:93,992,834...94,121,148
Ensembl chr 1:93,992,834...94,121,148 		JBrowse link
G ADIPOR1 adiponectin receptor 1 IAGP DNA:SNP:intron:c.-95+191A>G (rs10753929) (human) RGD PMID:22387454 RGD:8694465 NCBI chr 1:202,940,825...202,958,572
Ensembl chr 1:202,940,826...202,958,572 		JBrowse link
G APOE apolipoprotein E susceptibility
no_association		 IEA
EXP
IMP
IAGP		 CTD Direct Evidence: marker/mechanism
DNA:haplotype:cds:
DNA:polymorphism:exon:		 CTD
RGD		 PMID:16453339 PMID:15118671 PMID:16079201 PMID:19384966 PMID:10859513 More... RGD:1331525, RGD:7775015, RGD:7771587, RGD:7771552, RGD:7495761 NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393 		JBrowse link
G ARMS2 age-related maculopathy susceptibility 2 EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Macular degeneration		 CTD
ClinVar		 PMID:17884985 PMID:18316707 PMID:18511946 PMID:20437615 PMID:21909106 More... NCBI chr10:122,454,653...122,457,352
Ensembl chr10:122,454,653...122,457,352 		JBrowse link
G ATF6 activating transcription factor 6 IAGP ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:28041643 NCBI chr 1:161,766,320...161,964,070
Ensembl chr 1:161,766,298...161,977,574 		JBrowse link
G BAD BCL2 associated agonist of cell death severity IEP protein:increased expression:vitreous humor RGD PMID:22773904 RGD:10053644 NCBI chr11:64,269,828...64,284,704
Ensembl chr11:64,269,830...64,284,704 		JBrowse link
G BAX BCL2 associated X, apoptosis regulator IEP RGD PMID:20054800 RGD:10043353 NCBI chr19:48,954,875...48,961,798
Ensembl chr19:48,954,815...48,961,798 		JBrowse link
G BBS10 Bardet-Biedl syndrome 10 IAGP ClinVar Annotator: match by term: Macular degeneration ClinVar PMID:16582908 PMID:20080638 PMID:20120035 PMID:20177705 PMID:20472660 More... NCBI chr12:76,344,474...76,348,415
Ensembl chr12:76,344,474...76,348,415 		JBrowse link
G BEST1 bestrophin 1 IAGP Best macular dystrophy, OMIM:153700
ClinVar Annotator: match by term: Macular dystrophy		 ClinVar
RGD		 PMID:10394929 PMID:10798642 PMID:11241846 PMID:12565808 PMID:20381869 More... RGD:1599738 NCBI chr11:61,949,821...61,965,515
Ensembl chr11:61,950,063...61,965,515 		JBrowse link
G BMP4 bone morphogenetic protein 4 IEP protein:increased expression:bruch's membrane,pigmented layer of retina: RGD PMID:19158083 RGD:8699495 NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761 		JBrowse link
G C1QTNF5 C1q and TNF related 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16123441 NCBI chr11:119,338,942...119,346,705
Ensembl chr11:119,338,942...119,340,940 		JBrowse link
G C2 complement C2 susceptibility
no_association		 IAGP
EXP		 DNA:polymorphism
ClinVar Annotator: match by term: Macular degeneration
CTD Direct Evidence: marker/mechanism
DNA:missense mutation, snp:cds, intron:p.E318D, c.1360+62G>T (rs9332739, rs547154) (human)
DNA:missense mutation, haplotype:cds:p.E318D (rs9332739) (human)
DNA:SNP, haplotype:intron:c.1360+62G>T (rs547154) (human)
DNA:missense mutation:cds:p.E318D (rs9332739) (human)
DNA:SNP:intron:c.1360+62G>T (rs547154) (human)
DNA:missense mutation, SNP:cds, intron:p.E318D, c.1360+62G>T (rs9332739, rs547154) (human)		 ClinVar
CTD
RGD		 PMID:2249879 PMID:6308626 PMID:8181962 PMID:9536098 PMID:16518403 More... RGD:1600582, RGD:7411731, RGD:7411720, RGD:7411713, RGD:7411691, RGD:7411694, RGD:7411693, RGD:7411692 NCBI chr 6:31,897,783...31,945,672
Ensembl chr 6:31,897,785...31,945,673 		JBrowse link
G C3 complement C3 ISO
IAGP
EXP		 ClinVar Annotator: match by term: Macular degeneration
DNA:polymorphism: :p.R102G (human)
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.R102G (rs2230199) (human)		 ClinVar
CTD
RGD		 PMID:17767156 PMID:24036949 PMID:24036950 PMID:24036952 PMID:25741868 More... RGD:7401268, RGD:7411723, RGD:7411715 NCBI chr19:6,677,704...6,720,650
Ensembl chr19:6,677,704...6,730,562 		JBrowse link
G C9 complement C9 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24036952 NCBI chr 5:39,284,140...39,364,495
Ensembl chr 5:39,284,140...39,371,324 		JBrowse link
G CACNA1F calcium voltage-gated channel subunit alpha1 F IAGP ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:9536098 PMID:17576681 PMID:28492532 PMID:30718709 NCBI chr  X:49,205,063...49,233,340
Ensembl chr  X:49,205,063...49,233,371 		JBrowse link
G CACNG3 calcium voltage-gated channel auxiliary subunit gamma 3 susceptibility IAGP DNA:SNPs: : RGD PMID:21169531 RGD:13524556 NCBI chr16:24,256,335...24,362,412
Ensembl chr16:24,256,335...24,362,412 		JBrowse link
G CCL2 C-C motif chemokine ligand 2 severity ISO
IEP		 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 chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208 		JBrowse link
G CCR2 C-C motif chemokine receptor 2 no_association IEP protein:increased expression:plasma: RGD PMID:16857270 PMID:18172114 RGD:8657363, RGD:7794843 NCBI chr 3:46,354,111...46,360,940
Ensembl chr 3:46,353,864...46,360,940 		JBrowse link
G CD36 CD36 molecule (CD36 blood group) ISO RGD PMID:18288886 RGD:2307226 NCBI chr 7:80,602,207...80,679,274
Ensembl chr 7:80,369,575...80,679,277 		JBrowse link
G CDH3 cadherin 3 IAGP ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:10420194 PMID:14708629 PMID:15805154 PMID:25741868 PMID:27386845 More... NCBI chr16:68,645,310...68,733,771
Ensembl chr16:68,636,189...68,727,468 		JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A IEP RGD PMID:20054800 RGD:10043353 NCBI chr 6:36,676,463...36,687,332
Ensembl chr 6:36,676,460...36,687,397 		JBrowse link
G CDKN1B cyclin dependent kinase inhibitor 1B IEP RGD PMID:20054800 RGD:10043353 NCBI chr12:12,717,368...12,722,369
Ensembl chr12:12,685,498...12,722,369 		JBrowse link
G CERKL CERK like autophagy regulator IAGP ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:25741868 NCBI chr 2:181,536,672...181,657,105
Ensembl chr 2:181,535,041...181,680,665 		JBrowse link
G CFB complement factor B no_association
susceptibility		 IAGP
EXP		 DNA:missense mutation:cds:p.R32Q (rs641153) (human)
ClinVar Annotator: match by term: Macular degeneration | ClinVar Annotator: match by term: Macular dystrophy
CTD Direct Evidence: marker/mechanism
DNA:missense mutations:cds:p.L9H, p.R32Q (rs4151667, rs641153) (human)
DNA:missense mutation, haplotype:cds:p.L9H (rs4151667) (human)
DNA:missense mutation, SNP:cds, intron:p.R32L, c.*500T>C (rs641153, rs2072633) (human)
DNA:SNPs: :multiple
DNA:snp:intron:c.1169-69T>C (rs541862) (human)		 ClinVar
CTD
RGD		 PMID:2249879 PMID:6308626 PMID:8181962 PMID:16518403 PMID:16936732 More... RGD:7411691, RGD:7411731, RGD:7411720, RGD:7411714, RGD:7411713, RGD:7411713, RGD:7411694 NCBI chr 6:31,946,095...31,952,084
Ensembl chr 6:31,945,650...31,952,086 		JBrowse link
G CFH complement factor H susceptibility
no_association
disease_progression		 IAGP
EXP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Macular degeneration
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::		 CTD
ClinVar
RGD		 PMID:16518403 PMID:16754848 PMID:17554167 PMID:21909106 PMID:22019782 More... RGD:5684552, RGD:7365036, RGD:7365035, RGD:7365034, RGD:7365033, RGD:7365022, RGD:7365021, RGD:7364999, RGD:7364995 NCBI chr 1:196,652,043...196,747,504
Ensembl chr 1:196,651,754...196,752,476 		JBrowse link
G CFI complement factor I disease_progression
no_association		 IAGP
EXP		 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 4:109,730,982...109,801,999
Ensembl chr 4:109,731,008...109,802,150 		JBrowse link
G CNGA1 cyclic nucleotide gated channel subunit alpha 1 IAGP ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:7479749 PMID:24033266 PMID:24265693 PMID:25326637 PMID:25741868 More... NCBI chr 4:47,935,977...48,016,681
Ensembl chr 4:47,935,977...48,016,681 		JBrowse link
G CNGA3 cyclic nucleotide gated channel subunit alpha 3 IAGP ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:11536077 PMID:17693388 PMID:18445228 PMID:23972307 PMID:24033266 More... NCBI chr 2:98,346,456...98,398,601
Ensembl chr 2:98,346,188...98,398,601 		JBrowse link
G CNGB3 cyclic nucleotide gated channel subunit beta 3 IAGP ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:9536098 PMID:17576681 PMID:28041643 PMID:28492532 PMID:28795510 NCBI chr 8:86,574,179...86,743,634
Ensembl chr 8:86,553,977...86,743,675 		JBrowse link
G COL18A1 collagen type XVIII alpha 1 chain IAGP ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:12415512 PMID:19160445 PMID:19390655 PMID:20799329 PMID:21862674 More... NCBI chr21:45,405,165...45,513,720
Ensembl chr21:45,405,165...45,513,720 		JBrowse link
G CRB1 crumbs cell polarity complex component 1 ISO
IAGP		 DNA:frameshift mutation
ClinVar Annotator: match by term: Macular dystrophy		 ClinVar
RGD		 PMID:10508521 PMID:11389483 PMID:12700176 PMID:15024725 PMID:15459956 More... RGD:8552788 NCBI chr 1:197,201,504...197,478,455
Ensembl chr 1:197,268,204...197,478,455 		JBrowse link
G CRP C-reactive protein susceptibility IDA
IEP		 protein:increased expression:serum: RGD PMID:20346514 PMID:16225921 RGD:9491758, RGD:9491760 NCBI chr 1:159,712,289...159,714,589
Ensembl chr 1:159,712,289...159,714,589 		JBrowse link
G CRX cone-rod homeobox IAGP ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:28041643 NCBI chr19:47,821,937...47,843,324
Ensembl chr19:47,819,779...47,843,330 		JBrowse link
G CRYAB crystallin alpha B treatment ISO RGD PMID:25483086 RGD:13503350 NCBI chr11:111,908,564...111,923,740
Ensembl chr11:111,908,564...111,923,722 		JBrowse link
G CX3CR1 C-X3-C motif chemokine receptor 1 no_association IAGP
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 3:39,263,494...39,292,966
Ensembl chr 3:39,263,495...39,281,735 		JBrowse link
G EFEMP1 EGF containing fibulin extracellular matrix protein 1 no_association ISO
IEP		 protein:altered expression: : RGD PMID:17666404 PMID:12242346 PMID:17872905 RGD:10401788, RGD:10401794, RGD:10401789 NCBI chr 2:55,865,967...55,923,782
Ensembl chr 2:55,865,967...55,924,139 		JBrowse link
G ELN elastin IEP protein:increased expression:serum: RGD PMID:16123400 RGD:9585737 NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907 		JBrowse link
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit susceptibility IAGP DNA:missense mutations, haplotype:cds:p.D312N, p.K751Q (human) RGD PMID:20375340 RGD:10401085 NCBI chr19:45,349,837...45,370,573
Ensembl chr19:45,349,837...45,370,918 		JBrowse link
G ERCC6 ERCC excision repair 6, chromatin remodeling factor onset IEP
IAGP
EXP		 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 chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538 		JBrowse link
G ESR1 estrogen receptor 1 IAGP DNA:snps, haplotype:intron:c.454-397T>C, c.454-351A>G (rs2234693, rs9340799) (human) RGD PMID:17325140 RGD:10045664 NCBI chr 6:151,656,672...152,129,619
Ensembl chr 6:151,656,691...152,129,619 		JBrowse link
G EYS eyes shut homolog IAGP ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:20237254 PMID:21069908 PMID:23105016 PMID:25097241 PMID:25741868 More... NCBI chr 6:63,719,980...65,707,226
Ensembl chr 6:63,719,980...65,707,226 		JBrowse link
G FAS Fas cell surface death receptor severity IEP protein:increased expression:choroid, epithelioid cell (human) RGD PMID:9488273 RGD:8662418 NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605 		JBrowse link
G FBLN5 fibulin 5 IAGP ClinVar Annotator: match by term: Macular degeneration ClinVar PMID:24033266 PMID:28492532 NCBI chr14:91,869,411...91,947,694
Ensembl chr14:91,869,411...91,947,987 		JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 ISO RGD PMID:21731737 RGD:5684426 NCBI chr13:28,300,346...28,495,128
Ensembl chr13:28,300,346...28,495,145 		JBrowse link
G FSCN2 fascin actin-bundling protein 2, retinal IAGP ClinVar Annotator: match by term: Macular degeneration ClinVar PMID:11527955 PMID:14609921 PMID:15994872 PMID:16280978 PMID:16799052 More... NCBI chr17:81,515,062...81,537,130
Ensembl chr17:81,528,377...81,537,130 		JBrowse link
G GPHN gephyrin IAGP ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:16269441 PMID:17512964 PMID:19011012 PMID:21151602 PMID:22065924 More... NCBI chr14:66,508,147...67,735,355
Ensembl chr14:66,507,407...67,181,803 		JBrowse link
G GSR glutathione-disulfide reductase IDA protein:decreased expression:blood RGD PMID:7803358 RGD:10401825 NCBI chr 8:30,678,066...30,727,846
Ensembl chr 8:30,678,066...30,727,846 		JBrowse link
G GSTM1 glutathione S-transferase mu 1 susceptibility IAGP
IEP		 DNA:deletion:cds (human)
mRNA, protein:decreased expression:pigmented layer of retina (human)		 RGD PMID:21212706 PMID:22410570 RGD:7488954, RGD:12792247 NCBI chr 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039 		JBrowse link
G GSTM3 glutathione S-transferase mu 3 IEP mRNA, protein:decreased expression:pigmented layer of retina (human) RGD PMID:22410570 RGD:12792247 NCBI chr 1:109,733,937...109,741,038
Ensembl chr 1:109,733,932...109,741,038 		JBrowse link
G GUCA1A guanylate cyclase activator 1A IAGP ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:9425234 PMID:9651312 PMID:9702199 PMID:11146732 PMID:15953638 More... NCBI chr 6:42,173,364...42,180,056
Ensembl chr 6:42,173,364...42,181,338 		JBrowse link
G GUCA1ANB-GUCA1A GUCA1ANB-GUCA1A readthrough IAGP ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:9425234 PMID:9651312 PMID:9702199 PMID:11146732 PMID:15953638 More... NCBI chr 6:42,155,406...42,180,056
Ensembl chr 6:42,155,406...42,180,056 		JBrowse link
G GUCY2D guanylate cyclase 2D, retinal IAGP ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:10676808 PMID:11115851 PMID:11565546 PMID:12552567 PMID:24875811 More... NCBI chr17:8,002,615...8,020,342
Ensembl chr17:8,002,615...8,020,342 		JBrowse link
G HIC1 HIC ZBTB transcriptional repressor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:30742112 NCBI chr17:2,055,103...2,063,241
Ensembl chr17:2,054,154...2,063,241 		JBrowse link
G HK1 hexokinase 1 IAGP ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr10:69,270,000...69,401,882
Ensembl chr10:69,269,984...69,401,884 		JBrowse link
G HMCN1 hemicentin 1 IAGP ClinVar Annotator: match by term: Macular degeneration ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:185,734,391...186,190,949
Ensembl chr 1:185,734,391...186,190,949 		JBrowse link
G HSPA8 heat shock protein family A (Hsp70) member 8 IEP mRNA: increased expression: white blood cells RGD PMID:19684010 RGD:6478714 NCBI chr11:123,057,489...123,062,462
Ensembl chr11:123,057,489...123,063,230 		JBrowse link
G HTRA1 HtrA serine peptidase 1 IAGP ClinVar Annotator: match by term: Macular dystrophy
ClinVar Annotator: match by term: Macular degeneration		 ClinVar PMID:18164066 PMID:18316707 PMID:20437615 PMID:25741868 PMID:26467025 More... NCBI chr10:122,461,553...122,514,907
Ensembl chr10:122,458,551...122,514,907 		JBrowse link
G IL17A interleukin 17A susceptibility IAGP
IEP		 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 6:52,186,375...52,190,638
Ensembl chr 6:52,186,375...52,190,638 		JBrowse link
G IMPG1 interphotoreceptor matrix proteoglycan 1 IAGP ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:28041643 PMID:28492532 PMID:32581362 NCBI chr 6:75,921,114...76,072,662
Ensembl chr 6:75,921,114...76,072,678 		JBrowse link
G IMPG2 interphotoreceptor matrix proteoglycan 2 IAGP ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:20673862 PMID:24876279 PMID:28492532 PMID:30718709 NCBI chr 3:101,222,546...101,320,575
Ensembl chr 3:101,222,546...101,320,575 		JBrowse link
G KDR kinase insert domain receptor treatment ISO
IAGP		 DNA:SNPs:: rs4576072,rs6828477(human) RGD PMID:21731737 PMID:24365177 RGD:5684426, RGD:8549717 NCBI chr 4:55,078,481...55,125,595
Ensembl chr 4:55,078,481...55,125,595 		JBrowse link
G LOC101927157 uncharacterized LOC101927157 IAGP ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:7479749 PMID:24033266 PMID:24265693 PMID:25326637 PMID:25741868 More... NCBI chr 4:47,914,227...47,990,737 JBrowse link
G LOC126805793 CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:94486302-94487501 IAGP ClinVar Annotator: match by term: Macular degeneration
ClinVar Annotator: match by term: Macular degeneration | ClinVar Annotator: match by term: Macular dystrophy		 ClinVar PMID:24265693 PMID:25346251 PMID:25741868 PMID:28041643 PMID:28118664 More... NCBI chr 1:94,020,746...94,021,945 JBrowse link
G LOC126805794 BRD4-independent group 4 enhancer GRCh37_chr1:94502188-94503387 IAGP ClinVar Annotator: match by term: Macular degeneration ClinVar PMID:11328725 PMID:25741868 PMID:27628848 PMID:28492532 NCBI chr 1:94,036,632...94,037,831 JBrowse link
G LOC126860933 BRD4-independent group 4 enhancer GRCh37_chr10:50679962-50681161 IAGP ClinVar Annotator: match by term: Macular degeneration ClinVar PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr10:49,471,916...49,473,115 JBrowse link
G LOC130003806 ATAC-STARR-seq lymphoblastoid silent region 2363 IAGP ClinVar Annotator: match by term: Macular degeneration ClinVar PMID:25741868 NCBI chr10:49,538,764...49,539,053 JBrowse link
G MBD2 methyl-CpG binding domain protein 2 ISO RGD PMID:24939308 RGD:9588663 NCBI chr18:54,151,606...54,224,669
Ensembl chr18:54,151,606...54,224,669 		JBrowse link
G MIR184 microRNA 184 EXP CTD Direct Evidence: therapeutic CTD PMID:35690295 NCBI chr15:79,209,788...79,209,871
Ensembl chr15:79,209,788...79,209,871 		JBrowse link
G MIR23A microRNA 23a IEP RNA:decreased expression:retinal pigment epithelial cell: RGD PMID:21693609 RGD:10053591 NCBI chr19:13,836,587...13,836,659
Ensembl chr19:13,836,587...13,836,659 		JBrowse link
G MMP2 matrix metallopeptidase 2 susceptibility
no_association		 IAGP 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 chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691 		JBrowse link
G MMP9 matrix metallopeptidase 9 severity IEP protein:increased expression:vitreous humor RGD PMID:22490043 PMID:22773904 RGD:7829793, RGD:10053644 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561 		JBrowse link
G MT-ND4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 IAGP DNA:SNP, haplotype:cds:m.11812A>G (human) RGD PMID:19434233 RGD:5508704 NCBI chr MT:10,760...12,137
Ensembl chr MT:10,760...12,137 		JBrowse link
G NFE2L2 NFE2 like bZIP transcription factor 2 ISO
IAGP		 DNA:SNP, haplotype:intron:28312647A>G (rs6726395) (human) RGD PMID:21559389 PMID:23276910 RGD:10412682, RGD:7771558 NCBI chr 2:177,230,303...177,264,727
Ensembl chr 2:177,218,667...177,392,756 		JBrowse link
G NMNAT1 nicotinamide nucleotide adenylyltransferase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22842229 NCBI chr 1:9,942,923...9,996,892
Ensembl chr 1:9,943,428...9,985,501 		JBrowse link
G NQO1 NAD(P)H quinone dehydrogenase 1 IAGP DNA:missense mutation, haplotype:cds:c.609C>T (rs1800566) (human) RGD PMID:23276910 RGD:7771558 NCBI chr16:69,709,401...69,726,560
Ensembl chr16:69,706,996...69,726,668 		JBrowse link
G PARP12 poly(ADP-ribose) polymerase family member 12 EXP CTD Direct Evidence: marker/mechanism CTD PMID:30742112 NCBI chr 7:140,023,749...140,062,951
Ensembl chr 7:140,023,749...140,062,951 		JBrowse link
G PDE6B phosphodiesterase 6B IAGP ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:25741868 NCBI chr 4:625,573...670,782
Ensembl chr 4:625,573...670,782 		JBrowse link
G PGBD3 piggyBac transposable element derived 3 IAGP ClinVar Annotator: match by term: Macular degeneration ClinVar PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr10:49,515,105...49,524,281
Ensembl chr10:49,454,470...49,539,538 		JBrowse link
G PON1 paraoxonase 1 susceptibility
no_association		 IAGP
IEP		 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 7:95,297,676...95,324,532
Ensembl chr 7:95,297,676...95,324,532 		JBrowse link
G PPARGC1A PPARG coactivator 1 alpha IAGP DNA:snps:exon, 3' utr:g.76874A>G, g.*2381A>G (rs3736265, rs3774923) (human) RGD PMID:23335958 RGD:7241840 NCBI chr 4:23,792,021...24,472,905
Ensembl chr 4:23,755,041...23,904,089 		JBrowse link
G PROM1 prominin 1 IAGP ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:9634506 PMID:10205271 PMID:12657606 PMID:12659814 PMID:15665353 More... NCBI chr 4:15,968,228...16,084,023
Ensembl chr 4:15,963,076...16,084,378 		JBrowse link
G PRPH2 peripherin 2 IAGP DNA:polymorphism:cds:p.R172W(human)
ClinVar Annotator: match by term: Macular dystrophy
ClinVar Annotator: match by term: Macular degeneration
DNA:deletion:cds:		 ClinVar
RGD		 PMID:279751 PMID:8111389 PMID:8302543 PMID:8485575 PMID:8485576 More... RGD:8553205, RGD:8553231 NCBI chr 6:42,696,598...42,722,597
Ensembl chr 6:42,696,598...42,722,597 		JBrowse link
G RAX2 retina and anterior neural fold homeobox 2 IAGP ClinVar Annotator: match by term: Macular degeneration ClinVar PMID:25741868 NCBI chr19:3,769,089...3,772,228
Ensembl chr19:3,769,089...3,772,228 		JBrowse link
G RDH12 retinol dehydrogenase 12 IAGP ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:16269441 PMID:17512964 PMID:19011012 PMID:21151602 PMID:22065924 More... NCBI chr14:67,701,886...67,734,451
Ensembl chr14:67,701,886...67,734,451 		JBrowse link
G RLBP1 retinaldehyde binding protein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:30742112 NCBI chr15:89,209,869...89,221,579
Ensembl chr15:89,209,869...89,221,614 		JBrowse link
G ROM1 retinal outer segment membrane protein 1 IAGP ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:25741868 PMID:28492532 PMID:30718709 NCBI chr11:62,613,257...62,615,116
Ensembl chr11:62,611,722...62,615,116 		JBrowse link
G RPGR retinitis pigmentosa GTPase regulator IAGP
EXP		 ClinVar Annotator: match by term: Macular dystrophy
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:12160730 PMID:25741868 PMID:28041643 NCBI chr  X:38,269,163...38,327,509
Ensembl chr  X:38,269,163...38,327,544 		JBrowse link
G SAMD7 sterile alpha motif domain containing 7 IAGP ClinVar Annotator: match by term: Macular dystrophy with or without cone dysfunction ClinVar
OMIM		 PMID:38272031 NCBI chr 3:169,911,572...169,939,175
Ensembl chr 3:169,911,572...169,939,175 		JBrowse link
G SERPINE1 serpin family E member 1 IEP protein:increased expression:plasma (human) RGD PMID:17675241 RGD:8547755 NCBI chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247 		JBrowse link
G SERPINF1 serpin family F member 1 IEP
ISO		 protein:decreased expression:optic choroid (human)
mRNA:altered expression:retina (rat)		 RGD PMID:16019000 PMID:21191149 RGD:8554867, RGD:8655542 NCBI chr17:1,762,060...1,777,565
Ensembl chr17:1,762,029...1,777,565 		JBrowse link
G SERPING1 serpin family G member 1 no_association
susceptibility		 IEP
IAGP		 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 chr11:57,597,685...57,614,848
Ensembl chr11:57,597,387...57,619,171 		JBrowse link
G SIRT1 sirtuin 1 IEP mRNA:decreased expression:retina RGD PMID:21890195 RGD:9585773 NCBI chr10:67,884,656...67,918,390
Ensembl chr10:67,884,656...67,918,390 		JBrowse link
G SLC16A8 solute carrier family 16 member 8 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26691988 NCBI chr22:38,078,137...38,084,184
Ensembl chr22:38,078,134...38,084,184 		JBrowse link
G SLC19A1 solute carrier family 19 member 1 IAGP ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:12415512 PMID:19160445 PMID:19390655 PMID:20799329 PMID:21862674 More... NCBI chr21:45,502,517...45,563,025
Ensembl chr21:45,493,572...45,573,365 		JBrowse link
G SOD1 superoxide dismutase 1 susceptibility ISO
IEP		 protein:increased expression:serum (human) RGD PMID:16844785 PMID:23848218 RGD:1581207, RGD:8655651 NCBI chr21:31,659,693...31,668,931
Ensembl chr21:31,659,666...31,668,931 		JBrowse link
G SOD2 superoxide dismutase 2 ISO RGD PMID:17898259 RGD:8158047 NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529 		JBrowse link
G SQSTM1 sequestosome 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23922739 NCBI chr 5:179,806,393...179,838,078
Ensembl chr 5:179,806,398...179,838,078 		JBrowse link
G SRSF10 serine and arginine rich splicing factor 10 IEP protein:increased expression:retina (human) RGD PMID:24098751 RGD:11038792 NCBI chr 1:23,964,347...23,980,327
Ensembl chr 1:23,964,347...23,980,927 		JBrowse link
G THRB thyroid hormone receptor beta IAGP ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:25741868 NCBI chr 3:24,117,153...24,495,708
Ensembl chr 3:24,117,153...24,495,756 		JBrowse link
G TIMP3 TIMP metallopeptidase inhibitor 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26691988 NCBI chr22:32,801,705...32,863,041
Ensembl chr22:32,801,705...32,863,041 		JBrowse link
G TLR4 toll like receptor 4 susceptibility
no_association		 IAGP
EXP		 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 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735 		JBrowse link
G TNFRSF10A TNF receptor superfamily member 10a EXP CTD Direct Evidence: marker/mechanism CTD PMID:21909106 NCBI chr 8:23,190,452...23,225,102
Ensembl chr 8:23,190,452...23,225,102 		JBrowse link
G TRA2B transformer 2 beta homolog IEP protein:increased expression:retina (human) RGD PMID:24098751 RGD:11038792 NCBI chr 3:185,914,558...185,938,014
Ensembl chr 3:185,914,558...185,938,103 		JBrowse link
G TTC8 tetratricopeptide repeat domain 8 IAGP ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:25097241 PMID:25741868 PMID:28492532 PMID:30718709 PMID:33964006 NCBI chr14:88,824,153...88,881,079
Ensembl chr14:88,824,153...88,881,078 		JBrowse link
G UNC119 unc-119 lipid binding chaperone IAGP ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:26992781 PMID:35947183 NCBI chr17:28,546,707...28,552,628
Ensembl chr17:28,546,708...28,552,631 		JBrowse link
G USH2A usherin IAGP ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:9624053 PMID:10090909 PMID:10729113 PMID:10909849 PMID:11402400 More... NCBI chr 1:215,622,891...216,423,448
Ensembl chr 1:215,622,891...216,423,448 		JBrowse link
G VEGFA vascular endothelial growth factor A EXP CTD Direct Evidence: marker/mechanism CTD PMID:15788408 NCBI chr 6:43,770,211...43,786,487
Ensembl chr 6:43,770,184...43,786,487 		JBrowse link
G ZFYVE26 zinc finger FYVE-type containing 26 IAGP ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:16269441 PMID:17512964 PMID:19011012 PMID:21151602 PMID:23591405 More... NCBI chr14:67,728,892...67,816,590
Ensembl chr14:67,727,374...67,816,590 		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 IAGP ClinVar Annotator: match by term: MACULOPATHY, AGE-RELATED
ClinVar Annotator: match by term: Age-related macular degeneration
ClinVar Annotator: match by term: MACULAR DEGENERATION, SENILE		 ClinVar PMID:9054934 PMID:9295268 PMID:9466990 PMID:9490294 PMID:9503029 More... NCBI chr 1:93,992,834...94,121,148
Ensembl chr 1:93,992,834...94,121,148 		JBrowse link
G CCL2 C-C motif chemokine ligand 2 ISS MouseDO NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208 		JBrowse link
G CCR2 C-C motif chemokine receptor 2 ISS MouseDO NCBI chr 3:46,354,111...46,360,940
Ensembl chr 3:46,353,864...46,360,940 		JBrowse link
G CD46 CD46 molecule ISS MouseDO NCBI chr 1:207,752,038...207,795,516
Ensembl chr 1:207,752,037...207,795,513 		JBrowse link
G CFHR1 complement factor H related 1 IAGP ClinVar Annotator: match by term: Age-related macular degeneration ClinVar PMID:16998489 PMID:17367211 PMID:18006700 PMID:20843825 NCBI chr 1:196,819,731...196,832,189
Ensembl chr 1:196,819,731...196,837,159 		JBrowse link
G CFHR3 complement factor H related 3 IAGP ClinVar Annotator: match by term: Age-related macular degeneration ClinVar PMID:16998489 PMID:17367211 PMID:18006700 PMID:20843825 NCBI chr 1:196,774,840...196,795,407
Ensembl chr 1:196,774,813...196,795,407 		JBrowse link
G FBLN5 fibulin 5 IAGP ClinVar Annotator: match by term: Age-related macular degeneration ClinVar PMID:15269314 PMID:16652333 PMID:20007835 PMID:20599547 PMID:21576112 More... NCBI chr14:91,869,411...91,947,694
Ensembl chr14:91,869,411...91,947,987 		JBrowse link
G HTRA1 HtrA serine peptidase 1 susceptibility IAGP DNA:snp:promoter:g.-1894G>A (rs3793917) (human) RGD PMID:22618592 RGD:7394695 NCBI chr10:122,461,553...122,514,907
Ensembl chr10:122,458,551...122,514,907 		JBrowse link
G LOC126805793 CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:94486302-94487501 IAGP ClinVar Annotator: match by term: MACULOPATHY, AGE-RELATED ClinVar PMID:9781034 PMID:10090887 PMID:10711710 PMID:11328725 PMID:11527935 More... NCBI chr 1:94,020,746...94,021,945 JBrowse link
G LOC126805794 BRD4-independent group 4 enhancer GRCh37_chr1:94502188-94503387 IAGP ClinVar Annotator: match by term: MACULOPATHY, AGE-RELATED ClinVar PMID:15192030 PMID:18285826 PMID:25474345 PMID:25741868 PMID:28492532 More... NCBI chr 1:94,036,632...94,037,831 JBrowse link
G MT-TL1 mitochondrially encoded tRNA-Leu (UUA/G) 1 IAGP ClinVar Annotator: match by term: MACULOPATHY, AGE-RELATED ClinVar PMID:1284550 PMID:1315123 PMID:1323207 PMID:1360090 PMID:1454794 More... NCBI chr MT:3,230...3,304
Ensembl chr MT:3,230...3,304 		JBrowse link
G PPARGC1A PPARG coactivator 1 alpha ISS MouseDO NCBI chr 4:23,792,021...24,472,905
Ensembl chr 4:23,755,041...23,904,089 		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 IAGP
EXP		 ClinVar Annotator: match by term: MACULOPATHY, AGE-RELATED, 1
ClinVar Annotator: match by term: Age related macular degeneration 1 | ClinVar Annotator: match by term: MACULOPATHY, AGE-RELATED, 1
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:8488843 PMID:9279208 PMID:9360638 PMID:22949395 PMID:24126160 More... NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393 		JBrowse link
G CFHR1 complement factor H related 1 EXP
IAGP		 CTD Direct Evidence: marker/mechanism CTD
OMIM		 NCBI chr 1:196,819,731...196,832,189
Ensembl chr 1:196,819,731...196,837,159 		JBrowse link
G CFHR3 complement factor H related 3 IAGP
EXP		 ClinVar Annotator: match by term: Age related macular degeneration 1
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: MACULOPATHY, AGE-RELATED, 1		 ClinVar
OMIM
CTD		 PMID:25741868 PMID:28492532 NCBI chr 1:196,774,840...196,795,407
Ensembl chr 1:196,774,813...196,795,407 		JBrowse link
G CRYBA1 crystallin beta A1 ISS OMIM:603075 MouseDO NCBI chr17:29,246,859...29,254,494
Ensembl chr17:29,246,859...29,254,494 		JBrowse link
G HMCN1 hemicentin 1 IAGP
EXP		 ClinVar Annotator: match by term: Age related macular degeneration 1
ClinVar Annotator: match by term: Age related macular degeneration 1 | ClinVar Annotator: match by term: MACULOPATHY, AGE-RELATED, 1
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:9536098 PMID:9715689 PMID:14570714 PMID:17216616 PMID:17576681 More... NCBI chr 1:185,734,391...186,190,949
Ensembl chr 1:185,734,391...186,190,949 		JBrowse link
G LOC126805953 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:186156636-186157835 IAGP ClinVar Annotator: match by term: Age related macular degeneration 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:186,187,504...186,188,703 JBrowse link
G LOC129388665 MPRA-validated peak513 silencer IAGP ClinVar Annotator: match by term: Age related macular degeneration 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:186,152,844...186,153,044 JBrowse link
G VLDLR very low density lipoprotein receptor ISS OMIM:603075 MouseDO NCBI chr 9:2,621,787...2,660,056
Ensembl chr 9:2,621,182...2,660,056 		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 IAGP
EXP		 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 chr20:23,626,706...23,637,955
Ensembl chr20:23,626,706...23,638,473 		JBrowse link
G LOC130065547 ATAC-STARR-seq lymphoblastoid silent region 12734 IAGP ClinVar Annotator: match by term: Age related macular degeneration 11 ClinVar PMID:11815350 PMID:25741868 PMID:25893795 PMID:28492532 PMID:33116287 NCBI chr20:23,637,770...23,638,109 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 IAGP
ISS		 ClinVar Annotator: match by term: Age related macular degeneration 12
OMIM:613784		 OMIM
ClinVar
MouseDO		 PMID:25741868 NCBI chr 3:39,263,494...39,292,966
Ensembl chr 3:39,263,495...39,281,735 		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 IAGP 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 4:109,730,982...109,801,999
Ensembl chr 4:109,731,008...109,802,150 		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 IAGP 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 1:93,992,834...94,121,148
Ensembl chr 1:93,992,834...94,121,148 		JBrowse link
G C2 complement C2 IAGP ClinVar Annotator: match by term: Age related macular degeneration 14 ClinVar
OMIM		 PMID:2249879 PMID:6308626 PMID:8181962 PMID:9536098 PMID:9670930 More... NCBI chr 6:31,897,783...31,945,672
Ensembl chr 6:31,897,785...31,945,673 		JBrowse link
G C2-AS1 C2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Age related macular degeneration 14 ClinVar PMID:9670930 PMID:16518403 PMID:16936732 PMID:24033266 PMID:25741868 More... NCBI chr 6:31,934,474...31,941,724
Ensembl chr 6:31,934,448...31,941,724 		JBrowse link
G CFB complement factor B susceptibility IAGP 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 6:31,946,095...31,952,084
Ensembl chr 6:31,945,650...31,952,086 		JBrowse link
G FBLN5 fibulin 5 IAGP ClinVar Annotator: match by term: MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF ClinVar PMID:15269314 PMID:16652333 PMID:20007835 PMID:28492532 NCBI chr14:91,869,411...91,947,694
Ensembl chr14:91,869,411...91,947,987 		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 IAGP 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 5:39,284,140...39,364,495
Ensembl chr 5:39,284,140...39,371,324 		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 IAGP
EXP		 ClinVar Annotator: match by term: MACULOPATHY, AGE-RELATED, 2
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: Age related macular degeneration 2 | ClinVar Annotator: match by term: MACULOPATHY, AGE-RELATED, 2
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9054934 PMID:9295268 PMID:9466990 PMID:9490294 PMID:9503029 More... NCBI chr 1:93,992,834...94,121,148
Ensembl chr 1:93,992,834...94,121,148 		JBrowse link
G LOC126805793 CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:94486302-94487501 IAGP ClinVar Annotator: match by term: MACULOPATHY, AGE-RELATED, 2
ClinVar Annotator: match by term: Age related macular degeneration 2		 ClinVar PMID:9781034 PMID:10090887 PMID:10711710 PMID:11328725 PMID:11527935 More... NCBI chr 1:94,020,746...94,021,945 JBrowse link
G LOC126805794 BRD4-independent group 4 enhancer GRCh37_chr1:94502188-94503387 IAGP ClinVar Annotator: match by term: Age related macular degeneration 2 ClinVar PMID:15192030 PMID:18285826 PMID:25474345 PMID:25741868 PMID:28492532 More... NCBI chr 1:94,036,632...94,037,831 JBrowse link
G MT-TL1 mitochondrially encoded tRNA-Leu (UUA/G) 1 IAGP ClinVar Annotator: match by term: MACULOPATHY, AGE-RELATED, 2 ClinVar PMID:1284550 PMID:1315123 PMID:1323207 PMID:1360090 PMID:1454794 More... NCBI chr MT:3,230...3,304
Ensembl chr MT:3,230...3,304 		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 IAGP
EXP		 ClinVar Annotator: match by term: Macular degeneration, age-related, 3
ClinVar Annotator: match by term: Macular degeneration, age-related, 3 | ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:15269314 PMID:16374472 PMID:16652333 PMID:17035250 PMID:19194475 More... NCBI chr14:91,869,411...91,947,694
Ensembl chr14:91,869,411...91,947,987 		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 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Age related macular degeneration 4
OMIM:610698
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
MouseDO
CTD		 PMID:8072530 PMID:9536098 PMID:9811382 PMID:10577907 PMID:10762557 More... NCBI chr 1:196,652,043...196,747,504
Ensembl chr 1:196,651,754...196,752,476 		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 IAGP ClinVar Annotator: match by term: Age related macular degeneration 5 ClinVar
OMIM		 PMID:9443879 PMID:9536098 PMID:10196384 PMID:10767341 PMID:16754848 More... NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538 		JBrowse link
G LOC126860933 BRD4-independent group 4 enhancer GRCh37_chr10:50679962-50681161 IAGP ClinVar Annotator: match by term: Age related macular degeneration 5 ClinVar PMID:18414213 PMID:19894250 PMID:23311583 PMID:24154677 PMID:25741868 More... NCBI chr10:49,471,916...49,473,115 JBrowse link
G LOC130003806 ATAC-STARR-seq lymphoblastoid silent region 2363 IAGP ClinVar Annotator: match by term: Age related macular degeneration 5 ClinVar NCBI chr10:49,538,764...49,539,053 JBrowse link
G LOC130003807 ATAC-STARR-seq lymphoblastoid active region 3353 IAGP ClinVar Annotator: match by term: Age related macular degeneration 5 ClinVar PMID:16754848 PMID:17854076 PMID:25741868 PMID:28492532 NCBI chr10:49,539,474...49,539,533 JBrowse link
G PGBD3 piggyBac transposable element derived 3 IAGP ClinVar Annotator: match by term: Age related macular degeneration 5 ClinVar PMID:9443879 PMID:10196384 PMID:18414213 PMID:18628313 PMID:18784753 More... NCBI chr10:49,515,105...49,524,281
Ensembl chr10:49,454,470...49,539,538 		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 IAGP
EXP		 ClinVar Annotator: match by term: Age related macular degeneration 6
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:15028672 PMID:25741868 PMID:25986607 PMID:28492532 PMID:30377383 More... NCBI chr19:3,769,089...3,772,228
Ensembl chr19:3,769,089...3,772,228 		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 IAGP DNA:SNPs, haplotype: :multiple RGD PMID:19899988 RGD:7401252 NCBI chr19:6,677,704...6,720,650
Ensembl chr19:6,677,704...6,730,562 		JBrowse link
G CFB complement factor B no_association IAGP DNA:missense mutations:cds:p.L9H, p.R32L (rs4151667, rs641153) (human) RGD PMID:19899988 RGD:7401252 NCBI chr 6:31,946,095...31,952,084
Ensembl chr 6:31,945,650...31,952,086 		JBrowse link
G DCT dopachrome tautomerase IAGP ClinVar Annotator: match by term: Age related macular degeneration 7 ClinVar NCBI chr13:94,436,811...94,549,406
Ensembl chr13:94,436,811...94,479,682 		JBrowse link
G HTRA1 HtrA serine peptidase 1 susceptibility
severity		 IAGP
EXP		 DNA:polymorphisms:multiple (human)
ClinVar Annotator: match by term: Age related macular degeneration 7
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Susceptibility to neovascular type of age-related macular degeneration
DNA:snp:promoter:g.-497C>T (rs2672598) (human)
DNA:snps:promoter, exons:g.-497C>T, g.+108G>T/C, g.5230C>T (rs2672598, rs2293870, rs1049331) (human)
DNA:snp:intron:g.IVS1+9824G>A (rs932275) (human)		 ClinVar
CTD
OMIM
RGD		 PMID:16199547 PMID:17053108 PMID:17053109 PMID:17568988 PMID:18511946 More... RGD:7387295, RGD:7394722, RGD:7394721, RGD:7394719, RGD:7394713 NCBI chr10:122,461,553...122,514,907
Ensembl chr10:122,458,551...122,514,907 		JBrowse link
G MC1R melanocortin 1 receptor IAGP ClinVar Annotator: match by term: Macular degeneration, age-related, neovascular type ClinVar NCBI chr16:89,918,862...89,920,972
Ensembl chr16:89,912,119...89,920,973 		JBrowse link
age related macular degeneration 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARMS2 age-related maculopathy susceptibility 2 IAGP ClinVar Annotator: match by term: Age related macular degeneration 8 OMIM
ClinVar		 PMID:16174643 PMID:16642439 PMID:16936732 PMID:17884985 PMID:19259132 More... NCBI chr10:122,454,653...122,457,352
Ensembl chr10:122,454,653...122,457,352 		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 IAGP
EXP		 ClinVar Annotator: match by term: MACULAR DEGENERATION, AGE-RELATED, 9, SUSCEPTIBILITY TO
ClinVar Annotator: match by term: Age related macular degeneration 9
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:1976733 PMID:7870343 PMID:9536098 PMID:12462331 PMID:14639503 More... NCBI chr19:6,677,704...6,720,650
Ensembl chr19:6,677,704...6,730,562 		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 IAGP
EXP		 ClinVar Annotator: match by term: Basal laminar drusen
ClinVar Annotator: match by term: Basal laminar drusen | ClinVar Annotator: match by term: DRUSEN, EARLY ADULT-ONSET, GROUPED
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:8072530 PMID:9536098 PMID:9811382 PMID:10577907 PMID:10762557 More... NCBI chr 1:196,652,043...196,747,504
Ensembl chr 1:196,651,754...196,752,476 		JBrowse link
bestrophinopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BEST1 bestrophin 1 IAGP
ISS		 ClinVar Annotator: match by term: Autosomal recessive bestrophinopathy
OMIM:611809		 ClinVar
MouseDO
OMIM		 PMID:2133066 PMID:2162627 PMID:9700209 PMID:10788642 PMID:10798642 More... NCBI chr11:61,949,821...61,965,515
Ensembl chr11:61,950,063...61,965,515 		JBrowse link
G CRB1 crumbs cell polarity complex component 1 IAGP ClinVar Annotator: match by term: Autosomal recessive bestrophinopathy ClinVar PMID:17128490 PMID:17297678 PMID:23379534 PMID:24033266 PMID:25474345 More... NCBI chr 1:197,201,504...197,478,455
Ensembl chr 1:197,268,204...197,478,455 		JBrowse link
G FTH1 ferritin heavy chain 1 IAGP ClinVar Annotator: match by term: Autosomal recessive bestrophinopathy ClinVar PMID:2133066 PMID:10788642 PMID:18985398 PMID:20927214 PMID:21273940 More... NCBI chr11:61,964,285...61,967,634
Ensembl chr11:61,959,718...61,967,634 		JBrowse link
G PRPH2 peripherin 2 IAGP ClinVar Annotator: match by term: Autosomal recessive bestrophinopathy ClinVar PMID:11139241 PMID:15370544 PMID:16113362 PMID:16799052 PMID:22466463 More... NCBI chr 6:42,696,598...42,722,597
Ensembl chr 6:42,696,598...42,722,597 		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 IAGP 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 1:93,992,834...94,121,148
Ensembl chr 1:93,992,834...94,121,148 		JBrowse link
G CRX cone-rod homeobox IAGP ClinVar Annotator: match by term: Benign concentric annular macular dystrophy ClinVar PMID:22968130 PMID:23806086 PMID:24088041 PMID:25259927 PMID:25270190 More... NCBI chr19:47,821,937...47,843,324
Ensembl chr19:47,819,779...47,843,330 		JBrowse link
G IMPG1 interphotoreceptor matrix proteoglycan 1 IAGP
EXP		 ClinVar Annotator: match by term: IMPG1-related condition
ClinVar Annotator: match by term: Benign concentric annular macular dystrophy
ClinVar Annotator: match by term: Benign concentric annular macular dystrophy | ClinVar Annotator: match by term: IMPG1-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:4412179 PMID:14691150 PMID:16199547 PMID:23993198 PMID:25741868 More... NCBI chr 6:75,921,114...76,072,662
Ensembl chr 6:75,921,114...76,072,678 		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 IAGP
EXP		 ClinVar Annotator: match by term: Hypotrichosis with juvenile macular dystrophy
ClinVar Annotator: match by term: Congenital hypotrichosis with juvenile macular dystrophy
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		 ClinVar
CTD
OMIM		 PMID:10420194 PMID:11544476 PMID:12445216 PMID:14708629 PMID:15805154 More... NCBI chr16:68,645,310...68,733,771
Ensembl chr16:68,636,189...68,727,468 		JBrowse link
G CDH3-AS1 CDH3 antisense RNA 1 IAGP ClinVar Annotator: match by term: Congenital hypotrichosis with juvenile macular dystrophy ClinVar PMID:15805154 PMID:16199547 PMID:17342797 PMID:25741868 PMID:27386845 More... NCBI chr16:68,644,248...68,646,201
Ensembl chr16:68,644,248...68,646,168 		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 IAGP
ISS
EXP
IEP
ISO		 DNA:missense mutation:cds:p.R345W (human)
ClinVar Annotator: match by term: Doyne honeycomb degeneration of retina | ClinVar Annotator: match by term: Doyne honeycomb retinal dystrophy
OMIM:126600
CTD Direct Evidence: marker/mechanism
protein:altered expression: :		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:10369267 PMID:11384588 PMID:11389162 PMID:12242346 PMID:17666404 More... RGD:1598888, RGD:10401794, RGD:10401791 NCBI chr 2:55,865,967...55,923,782
Ensembl chr 2:55,865,967...55,924,139 		JBrowse link
G PRPH2 peripherin 2 IAGP ClinVar Annotator: match by term: MALATTIA LEVENTINESE ClinVar PMID:9536098 PMID:11139241 PMID:11704030 PMID:16113362 PMID:16799052 More... NCBI chr 6:42,696,598...42,722,597
Ensembl chr 6:42,696,598...42,722,597 		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 IAGP
EXP		 ClinVar Annotator: match by term: EEM syndrome
ClinVar Annotator: match by term: CDH3-related condition | ClinVar Annotator: match by term: EEM syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:9536098 PMID:10420194 PMID:13372143 PMID:14708629 PMID:15805154 More... NCBI chr16:68,645,310...68,733,771
Ensembl chr16:68,636,189...68,727,468 		JBrowse link
G CDH3-AS1 CDH3 antisense RNA 1 IAGP ClinVar Annotator: match by term: EEM syndrome ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr16:68,644,248...68,646,201
Ensembl chr16:68,644,248...68,646,168 		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 IEP protein:increased expression:aqueous humor of eyeball RGD PMID:24142887 RGD:8661224 NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208 		JBrowse link
G CCR2 C-C motif chemokine receptor 2 IEP protein:increased expression:monocyte RGD PMID:24142887 RGD:8661224 NCBI chr 3:46,354,111...46,360,940
Ensembl chr 3:46,353,864...46,360,940 		JBrowse link
G HTRA1 HtrA serine peptidase 1 IAGP DNA:snp:promoter:g.-625G>A (rs11200638) (human) RGD PMID:17426452 RGD:7394693 NCBI chr10:122,461,553...122,514,907
Ensembl chr10:122,458,551...122,514,907 		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 IEP mRNA:increased expression:white blood cell: RGD PMID:19684010 RGD:6478714 NCBI chr 4:121,667,946...121,696,980
Ensembl chr 4:121,667,946...121,696,995 		JBrowse link
G APOE apolipoprotein E susceptibility IAGP
IMP		 DNA:polymorphism:exon: RGD PMID:9512153 PMID:16079201 RGD:7495762, RGD:7775015 NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393 		JBrowse link
G C3 complement C3 IAGP DNA:SNP: :rs2241394 (human) RGD PMID:22174912 RGD:7401249 NCBI chr19:6,677,704...6,720,650
Ensembl chr19:6,677,704...6,730,562 		JBrowse link
G CCL2 C-C motif chemokine ligand 2 severity IEP protein:increased expression:aqueous humor of eyeball (human) RGD PMID:20937997 RGD:8548855 NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208 		JBrowse link
G CCR2 C-C motif chemokine receptor 2 IEP protein:increased expression:monocyte: RGD PMID:22789920 RGD:8661669 NCBI chr 3:46,354,111...46,360,940
Ensembl chr 3:46,353,864...46,360,940 		JBrowse link
G CFI complement factor I IAGP DNA:SNPs: :rs10033900, rs13117504 (human) RGD PMID:23900096 RGD:8662315 NCBI chr 4:109,730,982...109,801,999
Ensembl chr 4:109,731,008...109,802,150 		JBrowse link
G CRP C-reactive protein treatment IAGP
IEP		 DNA:SNPs: :rs2808635,rs876538(human) RGD PMID:19692124 PMID:17400294 RGD:9491756, RGD:9491775 NCBI chr 1:159,712,289...159,714,589
Ensembl chr 1:159,712,289...159,714,589 		JBrowse link
G ELN elastin no_association IAGP DNA:SNPintron: rs2301995(human) RGD PMID:22065928 PMID:18326737 RGD:7387224, RGD:9585729 NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907 		JBrowse link
G FGD6 FYVE, RhoGEF and PH domain containing 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27089177 NCBI chr12:95,076,749...95,217,467
Ensembl chr12:95,076,749...95,217,482 		JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 susceptibility
treatment		 IAGP
IEP
IMP		 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 chr13:28,300,346...28,495,128
Ensembl chr13:28,300,346...28,495,145 		JBrowse link
G GSTM1 glutathione S-transferase mu 1 susceptibility IAGP DNA:deletion, haplotype:: (human) RGD PMID:28221473 RGD:12792224 NCBI chr 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039 		JBrowse link
G GSTP1 glutathione S-transferase pi 1 susceptibility IAGP DNA:polymorphism::(rs1695)(human)
DNA:deletion, haplotype:: (human)		 RGD PMID:22487578 PMID:28221473 RGD:8547932, RGD:12792224 NCBI chr11:67,583,812...67,586,653
Ensembl chr11:67,583,742...67,586,656 		JBrowse link
G GSTT1 glutathione S-transferase theta 1 susceptibility IAGP DNA:deletion, haplotype:: (human) RGD PMID:28221473 RGD:12792224
G HTRA1 HtrA serine peptidase 1 susceptibility IAGP 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 chr10:122,461,553...122,514,907
Ensembl chr10:122,458,551...122,514,907 		JBrowse link
G IGF1 insulin like growth factor 1 IEP protein:increased expression:aqueous humor of eyeball:
mRNA,protein:increased expression:endothelial cell:		 RGD PMID:24106111 PMID:12714661 RGD:10045867, RGD:10045893 NCBI chr12:102,395,874...102,481,839
Ensembl chr12:102,395,874...102,481,744 		JBrowse link
G IGF1R insulin like growth factor 1 receptor IEP mRNA,protein:increased expression:endothelial cell: RGD PMID:12714661 RGD:10045893 NCBI chr15:98,648,539...98,964,530
Ensembl chr15:98,648,539...98,964,530 		JBrowse link
G IGFBP2 insulin like growth factor binding protein 2 IEP protein:increased expression:aqueous humor of eyeball: RGD PMID:24106111 RGD:10045867 NCBI chr 2:216,632,828...216,664,436
Ensembl chr 2:216,632,828...216,664,436 		JBrowse link
G IL6 interleukin 6 IEP protein:increased expression:aqueous humor: RGD PMID:22490043 RGD:7829793 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002 		JBrowse link
G KDR kinase insert domain receptor susceptibility IAGP DNA:SNP: :rs2071559(human) RGD PMID:22919317 RGD:8549752 NCBI chr 4:55,078,481...55,125,595
Ensembl chr 4:55,078,481...55,125,595 		JBrowse link
G LOXL1 lysyl oxidase like 1 IAGP DNA:SNP:exon:p.R141L (human) RGD PMID:21236409 RGD:7387334 NCBI chr15:73,926,462...73,952,136
Ensembl chr15:73,925,989...73,952,137 		JBrowse link
G MAPK8 mitogen-activated protein kinase 8 ISO RGD PMID:23341606 RGD:10412675 NCBI chr10:48,306,677...48,439,360
Ensembl chr10:48,306,639...48,439,360 		JBrowse link
G MDM1 Mdm1 nuclear protein ISO DNA, mRNA:nonsense mutation, decreased expression:retina RGD PMID:18805803 RGD:10412062 NCBI chr12:68,294,566...68,332,362
Ensembl chr12:68,272,443...68,332,381 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase susceptibility IAGP DNA:SNP:cds:rs1801133(human) RGD PMID:22065928 RGD:7387224 NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455 		JBrowse link
G NOS3 nitric oxide synthase 3 susceptibility IAGP DNA:snp:cds:c.894G>T (rs1799983) (human) RGD PMID:23276910 RGD:7771558 NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588 		JBrowse link
G PDGFB platelet derived growth factor subunit B IEP protein:increased expression:plasma: RGD PMID:24334449 RGD:10449444 NCBI chr22:39,223,359...39,244,982
Ensembl chr22:39,223,359...39,244,982 		JBrowse link
G PDGFRB platelet derived growth factor receptor beta IEP RGD PMID:22773904 RGD:10053644 NCBI chr 5:150,113,839...150,155,845
Ensembl chr 5:150,113,839...150,155,872 		JBrowse link
G PON1 paraoxonase 1 susceptibility IEP
IAGP		 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 7:95,297,676...95,324,532
Ensembl chr 7:95,297,676...95,324,532 		JBrowse link
G SOD2 superoxide dismutase 2 susceptibility IAGP DNA:polymorphism:cds:p.V16A(rs4880)(human) RGD PMID:18573360 RGD:8158102 NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529 		JBrowse link
G TLR2 toll like receptor 2 IEP mRNA:increased expression:peripheral blood mononuclear cell: RGD PMID:23946637 RGD:8552827 NCBI chr 4:153,684,280...153,710,637
Ensembl chr 4:153,684,050...153,706,260 		JBrowse link
G TLR3 toll like receptor 3 IEP mRNA:increased expression:peripheral blood mononuclear cell: RGD PMID:23946637 RGD:8552827 NCBI chr 4:186,069,156...186,088,073
Ensembl chr 4:186,068,911...186,088,073 		JBrowse link
G VEGFA vascular endothelial growth factor A treatment IAGP DNA:SNP: :rs943080(human)
DNA:SNP: :rs3025000(human)		 RGD PMID:23745581 PMID:23149126 RGD:7483607, RGD:7483627 NCBI chr 6:43,770,211...43,786,487
Ensembl chr 6:43,770,184...43,786,487 		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 IAGP 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 chr 5:128,257,909...128,538,245
Ensembl chr 5:128,257,909...128,659,185 		JBrowse link
G LOC126807501 BRD4-independent group 4 enhancer GRCh37_chr5:127680731-127681930 IAGP ClinVar Annotator: match by term: FBN2-related condition ClinVar PMID:28492532 NCBI chr 5:128,345,039...128,346,238 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 IAGP 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 4:127,917,732...127,965,963
Ensembl chr 4:127,917,799...127,966,034 		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 IEP associated with Proliferative Diabetic Retinopathy;protein:decreased expression:vitreous: RGD PMID:16080911 RGD:2315548 NCBI chr17:66,212,033...66,229,415
Ensembl chr17:66,212,033...66,256,525 		JBrowse link
G CCL2 C-C motif chemokine ligand 2 severity IEP associated with Diabetic Retinopathy;protein:increased expression:vitreous humor
associated with central retinal vein occlusion;protein:increased expression:aqueous humor of eyeball (human)
associated with Retinal Vein Occlusion;protein:increased expression:vitreous humor (human)		 RGD PMID:19118698 PMID:35799735 PMID:22066978 RGD:2306981, RGD:155582223, RGD:7829760 NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208 		JBrowse link
G CLU clusterin IEP associated with Diabetes Mellitus, Type 2;protein:decreased expression:vitreous humor RGD PMID:23568601 RGD:9068396 NCBI chr 8:27,596,917...27,614,700
Ensembl chr 8:27,596,917...27,614,700 		JBrowse link
G EPO erythropoietin severity IEP RGD PMID:20664492 RGD:10400883 NCBI chr 7:100,720,468...100,723,700
Ensembl chr 7:100,720,468...100,723,700 		JBrowse link
G FGF2 fibroblast growth factor 2 IEP associated with Diabetes Mellitus;protein:increased expression:aqueous humor RGD PMID:17505145 RGD:8655594 NCBI chr 4:122,826,682...122,898,236
Ensembl chr 4:122,826,682...122,898,236 		JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 IEP associated with Branch Retinal Vein Occlusion; protein:increased expression:aqueous humor: RGD PMID:24894397 RGD:10402117 NCBI chr13:28,300,346...28,495,128
Ensembl chr13:28,300,346...28,495,145 		JBrowse link
G HIF1A hypoxia inducible factor 1 subunit alpha IEP associated with central retinal vein occlusion;mRNA:increased expression:aqueous humor of eyeball (human) RGD PMID:35799735 RGD:155582223 NCBI chr14:61,695,513...61,748,258
Ensembl chr14:61,695,513...61,748,259 		JBrowse link
G IL6 interleukin 6 IEP 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 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002 		JBrowse link
G KDR kinase insert domain receptor IEP associated with retinal vein occlusion;protein:increased expression:vitreous humor RGD PMID:23411880 RGD:8549772 NCBI chr 4:55,078,481...55,125,595
Ensembl chr 4:55,078,481...55,125,595 		JBrowse link
G MIR210 microRNA 210 IEP associated with central retinal vein occlusion;miRNA:increased expression:aqueous humor of eyeball (human) RGD PMID:35799735 RGD:155582223 NCBI chr11:568,089...568,198
Ensembl chr11:568,089...568,198 		JBrowse link
G NDP norrin cystine knot growth factor NDP EXP CTD Direct Evidence: marker/mechanism CTD PMID:29654250 NCBI chr  X:43,948,776...43,973,390
Ensembl chr  X:43,948,776...43,973,395 		JBrowse link
G NOS3 nitric oxide synthase 3 susceptibility IAGP 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 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588 		JBrowse link
G SERPINF1 serpin family F member 1 treatment IEP
IDA		 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 chr17:1,762,060...1,777,565
Ensembl chr17:1,762,029...1,777,565 		JBrowse link
G VEGFA vascular endothelial growth factor A IEP
EXP		 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 6:43,770,211...43,786,487
Ensembl chr 6:43,770,184...43,786,487 		JBrowse link
North Carolina macular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC111365204 CCNC and PRDM13 intergenic region DNase I hypersensitve site DHS6S1 IAGP ClinVar Annotator: match by term: North Carolina macular dystrophy
ClinVar Annotator: match by term: Macular dystrophy retinal 1 North Carolina type		 OMIM
ClinVar		 PMID:9238090 PMID:9801042 PMID:9924305 PMID:10617775 PMID:25741868 More... NCBI chr 6:99,592,885...99,593,339 JBrowse link
G PRDM13 PR/SET domain 13 IAGP 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 6:99,606,833...99,615,562
Ensembl chr 6:99,606,774...99,615,578 		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 IAGP ClinVar Annotator: match by term: Occult macular dystrophy ClinVar PMID:25741868 NCBI chr11:77,066,971...77,126,155
Ensembl chr11:77,066,961...77,126,155 		JBrowse link
G RHO rhodopsin IAGP ClinVar Annotator: match by term: Occult macular dystrophy ClinVar PMID:1882937 PMID:2215617 PMID:8486634 PMID:20591486 PMID:25265376 More... NCBI chr 3:129,528,639...129,535,344
Ensembl chr 3:129,528,639...129,535,344 		JBrowse link
G RP1L1 RP1 like 1 IAGP ClinVar Annotator: match by term: Occult macular dystrophy
ClinVar Annotator: match by term: OMD | ClinVar Annotator: match by term: Occult macular dystrophy | ClinVar Annotator: match by term: RP1L1-related condition		 ClinVar
OMIM		 PMID:12724644 PMID:20826268 PMID:22277662 PMID:22504327 PMID:23281133 More... NCBI chr 8:10,606,349...10,655,143
Ensembl chr 8:10,606,349...10,712,187 		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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26691986 NCBI chr 5:138,753,425...138,935,034
Ensembl chr 5:138,610,967...138,935,034 		JBrowse link
G HTRA1 HtrA serine peptidase 1 susceptibility IAGP DNA:snp:promoter:g.-625G>A (rs11200638) (human) RGD PMID:22893068 RGD:7394745 NCBI chr10:122,461,553...122,514,907
Ensembl chr10:122,458,551...122,514,907 		JBrowse link
G MAPKAPK3 MAPK activated protein kinase 3 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:50,611,520...50,649,291
Ensembl chr 3:50,611,520...50,649,291 		JBrowse link
G PRPH2 peripherin 2 IAGP
EXP		 DNA:polymorphism:cds:p.Y141C(human)
ClinVar Annotator: match by term: Butterfly-shaped pigment dystrophy of the fovea
CTD Direct Evidence: marker/mechanism
DNA:mutation:cds:p.G167D(human)
DNA:mutation:splice junction:
DNA:deletion,insertion:cds:		 ClinVar
CTD
RGD		 PMID:1427912 PMID:1684223 PMID:7493155 PMID:7825692 PMID:7880786 More... RGD:8553221, RGD:8554864, RGD:8553238, RGD:8553236 NCBI chr 6:42,696,598...42,722,597
Ensembl chr 6:42,696,598...42,722,597 		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 IAGP
ISS		 ClinVar Annotator: match by term: Patterned macular dystrophy 1
OMIM:169150		 OMIM
ClinVar
MouseDO		 PMID:1427912 PMID:1684223 PMID:7493155 PMID:7710395 PMID:7825692 More... NCBI chr 6:42,696,598...42,722,597
Ensembl chr 6:42,696,598...42,722,597 		JBrowse link
patterned macular dystrophy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CTNNA1 catenin alpha 1 IAGP
ISS		 ClinVar Annotator: match by term: Patterned macular dystrophy 2
OMIM:608970		 ClinVar
MouseDO
OMIM		 PMID:5442145 PMID:9536098 PMID:17576681 PMID:25741868 PMID:26691986 More... NCBI chr 5:138,753,425...138,935,034
Ensembl chr 5:138,610,967...138,935,034 		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 IAGP ClinVar Annotator: match by term: Patterned macular dystrophy 3
ClinVar Annotator: match by term: MAPKAPK3-related condition		 ClinVar
OMIM		 PMID:25741868 PMID:26744326 PMID:28492532 NCBI chr 3:50,611,520...50,649,291
Ensembl chr 3:50,611,520...50,649,291 		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 IEP RGD PMID:11004090 RGD:2312481 NCBI chr  X:47,582,436...47,586,789
Ensembl chr  X:47,582,408...47,586,789 		JBrowse link
G TIMP2 TIMP metallopeptidase inhibitor 2 IEP RGD PMID:11004090 RGD:2312481 NCBI chr17:78,852,977...78,925,387
Ensembl chr17:78,852,977...78,925,387 		JBrowse link
G TIMP3 TIMP metallopeptidase inhibitor 3 IEP RGD PMID:11004090 RGD:2312481 NCBI chr22:32,801,705...32,863,041
Ensembl chr22:32,801,705...32,863,041 		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 IAGP ClinVar Annotator: match by term: DRUSEN, RADIAL, AUTOSOMAL DOMINANT ClinVar PMID:28492532 NCBI chr 2:55,865,967...55,923,782
Ensembl chr 2:55,865,967...55,924,139 		JBrowse link
G PRPH2 peripherin 2 IAGP ClinVar Annotator: match by term: DRUSEN, RADIAL, AUTOSOMAL DOMINANT ClinVar PMID:9536098 PMID:11139241 PMID:11704030 PMID:16113362 PMID:16799052 More... NCBI chr 6:42,696,598...42,722,597
Ensembl chr 6:42,696,598...42,722,597 		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 IAGP DNA:SNPs: :p.Y402H, rs1410996(human)
DNA:mutations:multiple:		 RGD PMID:18936151 PMID:22491393 RGD:7365005, RGD:7365010 NCBI chr 1:196,652,043...196,747,504
Ensembl chr 1:196,651,754...196,752,476 		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 IAGP ClinVar Annotator: match by term: Macular dystrophy, retinal ClinVar PMID:23757202 PMID:25741868 PMID:28492532 NCBI chr 4:15,968,228...16,084,023
Ensembl chr 4:15,963,076...16,084,378 		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 IAGP
EXP		 ClinVar Annotator: match by term: Retinal macular dystrophy type 2
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9634506 PMID:10205271 PMID:12657606 PMID:12659814 PMID:15665353 More... NCBI chr 4:15,968,228...16,084,023
Ensembl chr 4:15,963,076...16,084,378 		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 IAGP ClinVar Annotator: match by term: Macular dystrophy, retinal, 4 OMIM
ClinVar		 PMID:35331648 NCBI chr 3:45,026,303...45,036,071
Ensembl chr 3:45,001,548...45,036,071 		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 IAGP ClinVar Annotator: match by term: Sorsby fundus dystrophy ClinVar PMID:7148944 PMID:7894485 PMID:8634721 PMID:8639088 PMID:8919688 More... NCBI chr22:32,507,820...33,058,381
Ensembl chr22:32,507,820...33,058,381 		JBrowse link
G TIMP3 TIMP metallopeptidase inhibitor 3 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Sorsby fundus dystrophy
OMIM:136900
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:7148944 PMID:7894485 PMID:8634721 PMID:8639088 PMID:8919688 More... NCBI chr22:32,801,705...32,863,041
Ensembl chr22:32,801,705...32,863,041 		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 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Stargardt disease
ClinVar Annotator: match by term: STGD
ClinVar Annotator: match by term: STGD | ClinVar Annotator: match by term: Stargardt disease
OMIM:248200 | OMIM:600110 | OMIM:603786
ClinVar Annotator: match by term: Stargardt's disease
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD		 PMID:248200 PMID:8533764 PMID:9054934 PMID:9295268 PMID:9466990 More... NCBI chr 1:93,992,834...94,121,148
Ensembl chr 1:93,992,834...94,121,148 		JBrowse link
G ABCB4 ATP binding cassette subfamily B member 4 IAGP ClinVar Annotator: match by term: STGD ClinVar PMID:12891548 PMID:18482588 PMID:19467940 PMID:20537830 PMID:23022423 More... NCBI chr 7:87,365,896...87,476,027
Ensembl chr 7:87,401,696...87,480,435 		JBrowse link
G BEST1 bestrophin 1 IAGP ClinVar Annotator: match by term: Stargardt disease ClinVar PMID:10854112 PMID:16754206 PMID:18179881 PMID:21109774 PMID:21192766 More... NCBI chr11:61,949,821...61,965,515
Ensembl chr11:61,950,063...61,965,515 		JBrowse link
G CERKL CERK like autophagy regulator IAGP ClinVar Annotator: match by term: Stargardt disease ClinVar PMID:14681825 PMID:16199547 PMID:23591405 PMID:24043777 PMID:25741868 More... NCBI chr 2:181,536,672...181,657,105
Ensembl chr 2:181,535,041...181,680,665 		JBrowse link
G CNGB3 cyclic nucleotide gated channel subunit beta 3 IAGP ClinVar Annotator: match by term: STGD ClinVar PMID:15161866 PMID:15223812 PMID:15657609 PMID:15712225 PMID:16199547 More... NCBI chr 8:86,574,179...86,743,634
Ensembl chr 8:86,553,977...86,743,675 		JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP ClinVar Annotator: match by term: Stargardt disease ClinVar PMID:16752401 PMID:20513134 PMID:28492532 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554 		JBrowse link
G CRB1 crumbs cell polarity complex component 1 IAGP ClinVar Annotator: match by term: Stargardt disease ClinVar PMID:10508521 PMID:22065545 PMID:23379534 PMID:25412400 PMID:25741868 More... NCBI chr 1:197,201,504...197,478,455
Ensembl chr 1:197,268,204...197,478,455 		JBrowse link
G CRX cone-rod homeobox IAGP ClinVar Annotator: match by term: Stargardt disease ClinVar PMID:28492532 PMID:29555955 PMID:30718709 PMID:32533067 PMID:35934205 NCBI chr19:47,821,937...47,843,324
Ensembl chr19:47,819,779...47,843,330 		JBrowse link
G ELOVL4 ELOVL fatty acid elongase 4 ISS OMIM:248200 | OMIM:600110 | OMIM:603786 MouseDO NCBI chr 6:79,914,814...79,947,553
Ensembl chr 6:79,914,814...79,947,553 		JBrowse link
G EYS eyes shut homolog IAGP ClinVar Annotator: match by term: Stargardt disease ClinVar PMID:9536098 PMID:17576681 PMID:23591405 PMID:25133751 PMID:28492532 More... NCBI chr 6:63,719,980...65,707,226
Ensembl chr 6:63,719,980...65,707,226 		JBrowse link
G FLVCR1 FLVCR choline and heme transporter 1 IAGP ClinVar Annotator: match by term: Stargardt disease ClinVar PMID:30718709 NCBI chr 1:212,858,275...212,899,363
Ensembl chr 1:212,858,275...212,899,363 		JBrowse link
G GPHN gephyrin IAGP ClinVar Annotator: match by term: Stargardt disease ClinVar PMID:25741868 NCBI chr14:66,508,147...67,735,355
Ensembl chr14:66,507,407...67,181,803 		JBrowse link
G KCNV2 potassium voltage-gated channel modifier subfamily V member 2 IAGP ClinVar Annotator: match by term: Stargardt disease ClinVar PMID:8333273 PMID:18235024 PMID:30718709 NCBI chr 9:2,717,510...2,730,037
Ensembl chr 9:2,717,510...2,730,037 		JBrowse link
G LAMA4 laminin subunit alpha 4 IAGP ClinVar Annotator: match by term: STGD ClinVar PMID:25326637 PMID:28492532 NCBI chr 6:112,107,931...112,254,985
Ensembl chr 6:112,107,931...112,254,939 		JBrowse link
G LOC112590828 Sharpr-MPRA regulatory region 9909 IAGP ClinVar Annotator: match by term: STGD ClinVar PMID:28041643 NCBI chr 1:93,979,953...93,980,247 JBrowse link
G LOC126805793 CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:94486302-94487501 IAGP ClinVar Annotator: match by term: STGD
ClinVar Annotator: match by term: Stargardt disease
ClinVar Annotator: match by term: STGD | ClinVar Annotator: match by term: Stargardt disease		 ClinVar PMID:248200 PMID:9295268 PMID:9536098 PMID:9781034 PMID:10090887 More... NCBI chr 1:94,020,746...94,021,945 JBrowse link
G LOC126805794 BRD4-independent group 4 enhancer GRCh37_chr1:94502188-94503387 IAGP ClinVar Annotator: match by term: STGD
ClinVar Annotator: match by term: Stargardt disease		 ClinVar PMID:10958761 PMID:10958763 PMID:11385708 PMID:11527935 PMID:11726554 More... NCBI chr 1:94,036,632...94,037,831 JBrowse link
G LRIT3 leucine rich repeat, Ig-like and transmembrane domains 3 IAGP ClinVar Annotator: match by term: Stargardt disease ClinVar PMID:27428514 PMID:28492532 NCBI chr 4:109,848,107...109,872,315
Ensembl chr 4:109,848,107...109,872,315 		JBrowse link
G MFSD8 major facilitator superfamily domain containing 8 IAGP ClinVar Annotator: match by term: STGD ClinVar PMID:25333361 PMID:25741868 PMID:28041643 PMID:28492532 PMID:28586915 More... NCBI chr 4:127,917,732...127,965,963
Ensembl chr 4:127,917,799...127,966,034 		JBrowse link
G OPA1 OPA1 mitochondrial dynamin like GTPase IAGP ClinVar Annotator: match by term: Stargardt disease ClinVar PMID:11440988 PMID:11440989 PMID:20157015 PMID:20952381 PMID:23384603 More... NCBI chr 3:193,593,208...193,697,811
Ensembl chr 3:193,593,144...193,697,811 		JBrowse link
G PCARE photoreceptor cilium actin regulator IAGP ClinVar Annotator: match by term: Stargardt disease ClinVar PMID:4543597 PMID:20398884 PMID:20398886 PMID:24339724 PMID:26496393 More... NCBI chr 2:29,061,695...29,074,523
Ensembl chr 2:29,060,976...29,074,523 		JBrowse link
G PROM1 prominin 1 IAGP ClinVar Annotator: match by term: Stargardt disease ClinVar PMID:9536098 PMID:9634506 PMID:10205271 PMID:12657606 PMID:12659814 More... NCBI chr 4:15,968,228...16,084,023
Ensembl chr 4:15,963,076...16,084,378 		JBrowse link
G PRPH2 peripherin 2 IAGP 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 6:42,696,598...42,722,597
Ensembl chr 6:42,696,598...42,722,597 		JBrowse link
G RDH12 retinol dehydrogenase 12 IAGP ClinVar Annotator: match by term: Stargardt disease ClinVar PMID:25741868 NCBI chr14:67,701,886...67,734,451
Ensembl chr14:67,701,886...67,734,451 		JBrowse link
G RHO rhodopsin IAGP ClinVar Annotator: match by term: STGD ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr 3:129,528,639...129,535,344
Ensembl chr 3:129,528,639...129,535,344 		JBrowse link
G RP1L1 RP1 like 1 IAGP ClinVar Annotator: match by term: Stargardt disease ClinVar NCBI chr 8:10,606,349...10,655,143
Ensembl chr 8:10,606,349...10,712,187 		JBrowse link
G SNRNP200 small nuclear ribonucleoprotein U5 subunit 200 IAGP ClinVar Annotator: match by term: Stargardt disease ClinVar PMID:30718709 NCBI chr 2:96,274,338...96,305,546
Ensembl chr 2:96,274,338...96,321,271 		JBrowse link
G TULP1 TUB like protein 1 IAGP ClinVar Annotator: match by term: Stargardt disease ClinVar PMID:25741868 NCBI chr 6:35,497,874...35,512,896
Ensembl chr 6:35,497,874...35,512,896 		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		 IAGP
IDA
ISO		 DNA:mutations:multiple:
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 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: Generalized choriocapillaris dystrophy | ClinVar Annotator: match by term: Stargardt disease 1
ClinVar Annotator: match by term: MACULAR DYSTROPHY WITH FLECKS, TYPE 1 | ClinVar Annotator: match by term: Stargardt disease 1
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: MACULAR DYSTROPHY WITH FLECKS, TYPE 1 | ClinVar Annotator: match by term: Stargardt disease 1
DNA:mutation:exon:c.2041C>T(human)		 ClinVar
OMIM
RGD		 PMID:248200 PMID:8533764 PMID:9054934 PMID:9295268 PMID:9466990 More... RGD:7815045, RGD:7815046, RGD:7815046, RGD:7829716 NCBI chr 1:93,992,834...94,121,148
Ensembl chr 1:93,992,834...94,121,148 		JBrowse link
G ABCB4 ATP binding cassette subfamily B member 4 IAGP ClinVar Annotator: match by term: Stargardt disease 1 ClinVar PMID:12891548 PMID:18482588 PMID:19467940 PMID:20537830 PMID:23022423 More... NCBI chr 7:87,365,896...87,476,027
Ensembl chr 7:87,401,696...87,480,435 		JBrowse link
G BEST1 bestrophin 1 IAGP ClinVar Annotator: match by term: Fundus flavimaculatus ClinVar PMID:10854112 PMID:16754206 PMID:18179881 PMID:21109774 PMID:21192766 More... NCBI chr11:61,949,821...61,965,515
Ensembl chr11:61,950,063...61,965,515 		JBrowse link
G CNGB3 cyclic nucleotide gated channel subunit beta 3 IAGP ClinVar Annotator: match by term: Stargardt disease 1
ClinVar Annotator: match by term: MACULAR DYSTROPHY WITH FLECKS, TYPE 1
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:15161866 PMID:15223812 PMID:15657609 PMID:15712225 PMID:16199547 More... NCBI chr 8:86,574,179...86,743,634
Ensembl chr 8:86,553,977...86,743,675 		JBrowse link
G KCNV2 potassium voltage-gated channel modifier subfamily V member 2 IAGP ClinVar Annotator: match by term: Fundus flavimaculatus ClinVar PMID:8333273 PMID:18235024 PMID:30718709 NCBI chr 9:2,717,510...2,730,037
Ensembl chr 9:2,717,510...2,730,037 		JBrowse link
G LAMA4 laminin subunit alpha 4 IAGP ClinVar Annotator: match by term: Stargardt disease 1 ClinVar PMID:25326637 PMID:28492532 NCBI chr 6:112,107,931...112,254,985
Ensembl chr 6:112,107,931...112,254,939 		JBrowse link
G LOC112590828 Sharpr-MPRA regulatory region 9909 IAGP ClinVar Annotator: match by term: Stargardt disease 1 ClinVar PMID:28041643 NCBI chr 1:93,979,953...93,980,247 JBrowse link
G LOC126805793 CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:94486302-94487501 IAGP ClinVar Annotator: match by term: Stargardt disease 1
ClinVar Annotator: match by term: Stargardt Disease, Recessive
ClinVar Annotator: match by term: Stargardt Disease, Recessive | ClinVar Annotator: match by term: Stargardt disease 1
ClinVar Annotator: match by term: MACULAR DYSTROPHY WITH FLECKS, TYPE 1		 ClinVar PMID:248200 PMID:9295268 PMID:9536098 PMID:9781034 PMID:10090887 More... NCBI chr 1:94,020,746...94,021,945 JBrowse link
G LOC126805794 BRD4-independent group 4 enhancer GRCh37_chr1:94502188-94503387 IAGP ClinVar Annotator: match by term: Stargardt disease 1
ClinVar Annotator: match by term: Stargardt Disease, Recessive | ClinVar Annotator: match by term: Stargardt disease 1
ClinVar Annotator: match by term: MACULAR DYSTROPHY WITH FLECKS, TYPE 1		 ClinVar PMID:10958761 PMID:10958763 PMID:11328725 PMID:11385708 PMID:11527935 More... NCBI chr 1:94,036,632...94,037,831 JBrowse link
G MFSD8 major facilitator superfamily domain containing 8 IAGP ClinVar Annotator: match by term: Stargardt disease 1 ClinVar PMID:25333361 PMID:25741868 PMID:28041643 PMID:28492532 PMID:28586915 More... NCBI chr 4:127,917,732...127,965,963
Ensembl chr 4:127,917,799...127,966,034 		JBrowse link
G OPA1 OPA1 mitochondrial dynamin like GTPase IAGP ClinVar Annotator: match by term: Fundus flavimaculatus ClinVar PMID:11440988 PMID:11440989 PMID:20157015 PMID:20952381 PMID:23384603 More... NCBI chr 3:193,593,208...193,697,811
Ensembl chr 3:193,593,144...193,697,811 		JBrowse link
G PROM1 prominin 1 IAGP ClinVar Annotator: match by term: Fundus flavimaculatus ClinVar PMID:10205271 PMID:16199547 PMID:17605048 PMID:19718270 PMID:24154662 More... NCBI chr 4:15,968,228...16,084,023
Ensembl chr 4:15,963,076...16,084,378 		JBrowse link
G PRPH2 peripherin 2 IAGP ClinVar Annotator: match by term: Fundus flavimaculatus
ClinVar Annotator: match by term: Stargardt Disease, Recessive		 ClinVar PMID:279751 PMID:4142662 PMID:7493155 PMID:7519821 PMID:7825692 More... NCBI chr 6:42,696,598...42,722,597
Ensembl chr 6:42,696,598...42,722,597 		JBrowse link
G RHO rhodopsin IAGP ClinVar Annotator: match by term: Stargardt disease 1 ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr 3:129,528,639...129,535,344
Ensembl chr 3:129,528,639...129,535,344 		JBrowse link
G RP1L1 RP1 like 1 IAGP ClinVar Annotator: match by term: Fundus flavimaculatus ClinVar NCBI chr 8:10,606,349...10,655,143
Ensembl chr 8:10,606,349...10,712,187 		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 IAGP ClinVar Annotator: match by term: Stargardt disease 3 ClinVar PMID:9054934 PMID:9503029 PMID:9781034 PMID:9973280 PMID:10090887 More... NCBI chr 1:93,992,834...94,121,148
Ensembl chr 1:93,992,834...94,121,148 		JBrowse link
G ELOVL4 ELOVL fatty acid elongase 4 IAGP
EXP		 ClinVar Annotator: match by term: Stargardt disease 3
ClinVar Annotator: match by term: STARGARDT-LIKE MACULAR DYSTROPHY, AUTOSOMAL DOMINANT
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:5048218 PMID:11138005 PMID:15028284 PMID:15557430 PMID:22948568 More... NCBI chr 6:79,914,814...79,947,553
Ensembl chr 6:79,914,814...79,947,553 		JBrowse link
G FGFR1 fibroblast growth factor receptor 1 ISO mRNA,protein:increased expression:optic cup: RGD PMID:22199241 RGD:10402074 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834 		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 IAGP ClinVar Annotator: match by term: Stargardt Disease, Dominant ClinVar NCBI chr 6:79,914,814...79,947,553
Ensembl chr 6:79,914,814...79,947,553 		JBrowse link
G PROM1 prominin 1 IAGP
EXP		 ClinVar Annotator: match by term: Stargardt disease 4
ClinVar Annotator: match by term: Stargardt Disease, Dominant | ClinVar Annotator: match by term: Stargardt disease 4
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9634506 PMID:10205271 PMID:12657606 PMID:12659814 PMID:15665353 More... NCBI chr 4:15,968,228...16,084,023
Ensembl chr 4:15,963,076...16,084,378 		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 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002 		JBrowse link
G IL6R interleukin 6 receptor treatment ISO RGD PMID:24790857 RGD:10402815 NCBI chr 1:154,405,343...154,469,450
Ensembl chr 1:154,405,193...154,469,450 		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 EXP
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:153700 | OMIM:153840 | OMIM:608161 | OMIM:616151 | OMIM:616152		 CTD
MouseDO		 NCBI chr11:61,949,821...61,965,515
Ensembl chr11:61,950,063...61,965,515 		JBrowse link
G HTRA1 HtrA serine peptidase 1 susceptibility IAGP DNA:snp:promoter:g.-625G>A (rs11200638) (human) RGD PMID:22893068 RGD:7394745 NCBI chr10:122,461,553...122,514,907
Ensembl chr10:122,458,551...122,514,907 		JBrowse link
G IMPG1 interphotoreceptor matrix proteoglycan 1 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:75,921,114...76,072,662
Ensembl chr 6:75,921,114...76,072,678 		JBrowse link
G IMPG2 interphotoreceptor matrix proteoglycan 2 EXP
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:153700 | OMIM:153840 | OMIM:608161 | OMIM:616151 | OMIM:616152		 CTD
MouseDO		 NCBI chr 3:101,222,546...101,320,575
Ensembl chr 3:101,222,546...101,320,575 		JBrowse link
G PRPH2 peripherin 2 IAGP
EXP		 DNA:polymorphism:cds:p.Y141C(human)
ClinVar Annotator: match by term: Vitelliform macular dystrophy
CTD Direct Evidence: marker/mechanism
DNA:deletion:cds:112del(human)
DNA:polymorphisms,haplotype:cds:p.E304Q,G338D(human)		 ClinVar
CTD
RGD		 PMID:25741868 PMID:28492532 PMID:32531846 PMID:15370544 PMID:12566026 More... RGD:8553221, RGD:8554859, RGD:8553239 NCBI chr 6:42,696,598...42,722,597
Ensembl chr 6:42,696,598...42,722,597 		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 IAGP ClinVar Annotator: match by term: Vitelliform macular dystrophy 1 ClinVar PMID:10854112 PMID:17065513 PMID:18289629 PMID:21436265 PMID:23213274 More... NCBI chr11:61,949,821...61,965,515
Ensembl chr11:61,950,063...61,965,515 		JBrowse link
G IMPG1 interphotoreceptor matrix proteoglycan 1 IAGP ClinVar Annotator: match by term: Vitelliform macular dystrophy 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:75,921,114...76,072,662
Ensembl chr 6:75,921,114...76,072,678 		JBrowse link
G MYH9 myosin heavy chain 9 IAGP ClinVar Annotator: match by term: Vitelliform macular dystrophy 1 ClinVar PMID:24033266 PMID:24130771 PMID:25077172 PMID:25741868 PMID:26467025 More... NCBI chr22:36,281,280...36,387,967
Ensembl chr22:36,281,280...36,388,010 		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 IAGP ClinVar Annotator: match by term: Vitelliform macular dystrophy 2 ClinVar
OMIM		 PMID:838599 PMID:2133066 PMID:2162627 PMID:9536098 PMID:9662395 More... NCBI chr11:61,949,821...61,965,515
Ensembl chr11:61,950,063...61,965,515 		JBrowse link
G FTH1 ferritin heavy chain 1 IAGP ClinVar Annotator: match by term: Vitelliform macular dystrophy 2 ClinVar PMID:2133066 PMID:10788642 PMID:13129869 PMID:14615048 PMID:18985398 More... NCBI chr11:61,964,285...61,967,634
Ensembl chr11:61,959,718...61,967,634 		JBrowse link
G IMPG1 interphotoreceptor matrix proteoglycan 1 IAGP ClinVar Annotator: match by term: Vitelliform macular dystrophy 2 ClinVar PMID:25741868 NCBI chr 6:75,921,114...76,072,662
Ensembl chr 6:75,921,114...76,072,678 		JBrowse link
G IMPG2 interphotoreceptor matrix proteoglycan 2 IAGP ClinVar Annotator: match by term: Vitelliform macular dystrophy 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:101,222,546...101,320,575
Ensembl chr 3:101,222,546...101,320,575 		JBrowse link
G PRPH2 peripherin 2 IAGP ClinVar Annotator: match by term: Vitelliform macular dystrophy 2
ClinVar Annotator: match by term: Best vitelliform macular dystrophy, multifocal		 ClinVar PMID:1427912 PMID:4142662 PMID:7493155 PMID:7519821 PMID:7862413 More... NCBI chr 6:42,696,598...42,722,597
Ensembl chr 6:42,696,598...42,722,597 		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 IAGP ClinVar Annotator: match by term: Vitelliform macular dystrophy 3 ClinVar NCBI chr 3:101,222,546...101,320,575
Ensembl chr 3:101,222,546...101,320,575 		JBrowse link
G PRPH2 peripherin 2 IAGP ClinVar Annotator: match by term: Macular dystrophy, vitelliform, adult-onset | ClinVar Annotator: match by term: Vitelliform macular dystrophy 3
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
ClinVar Annotator: match by term: Adult onset vitelliform dystrophy		 OMIM
ClinVar		 PMID:1427912 PMID:4142662 PMID:7519821 PMID:7862413 PMID:8111389 More... NCBI chr 6:42,696,598...42,722,597
Ensembl chr 6:42,696,598...42,722,597 		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 IAGP ClinVar Annotator: match by term: Vitelliform macular dystrophy 4 OMIM
ClinVar		 PMID:16199547 PMID:23993198 PMID:25741868 PMID:28492532 PMID:28644393 More... NCBI chr 6:75,921,114...76,072,662
Ensembl chr 6:75,921,114...76,072,678 		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 IAGP ClinVar Annotator: match by term: Macular dystrophy, retinal, 5 ClinVar PMID:9536098 PMID:17576681 PMID:23591405 PMID:24033266 PMID:25741868 More... NCBI chr10:84,194,537...84,219,621
Ensembl chr10:84,194,537...84,219,621 		JBrowse link
G IMPG2 interphotoreceptor matrix proteoglycan 2 IAGP ClinVar Annotator: match by term: Vitelliform macular dystrophy 5 OMIM
ClinVar		 PMID:20673862 PMID:24876279 PMID:25085631 PMID:25741868 PMID:25999674 More... NCBI chr 3:101,222,546...101,320,575
Ensembl chr 3:101,222,546...101,320,575 		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 IAGP 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:38,269,163...38,327,509
Ensembl chr  X:38,269,163...38,327,544 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 97387
    Diseases of the Aged 2967
      macular degeneration 635
        Concentric Annular Macular Dystrophy 3
        Geographic Atrophy 71
        Kuhnt-Junius degeneration + 104
        Macular Degeneration, Early-Onset 2
        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 2
        degeneration of macula and posterior pole + 523
        diabetic maculopathy + 12
        ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome 2
        macular retinal edema + 16
        occult macular dystrophy 3
        patterned macular dystrophy + 4
        retinal macular dystrophy + 4
        vitelliform macular dystrophy + 8
Path 2
Term Annotations click to browse term
  disease 97387
    Pathological Conditions, Signs and Symptoms 53656
      Signs and Symptoms 35476
        Neurologic Manifestations 31894
          sensory system disease 20957
            eye disease 7647
              eye degenerative disease 1724
                retinal degeneration 1643
                  macular degeneration 635
                    Concentric Annular Macular Dystrophy 3
                    Geographic Atrophy 71
                    Kuhnt-Junius degeneration + 104
                    Macular Degeneration, Early-Onset 2
                    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 2
                    degeneration of macula and posterior pole + 523
                    diabetic maculopathy + 12
                    ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome 2
                    macular retinal edema + 16
                    occult macular dystrophy 3
                    patterned macular dystrophy + 4
                    retinal macular dystrophy + 4
                    vitelliform macular dystrophy + 8
paths to the root