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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:age related macular degeneration
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Accession:DOID:10871 term browser browse the term
Definition:A degeneration of macula and posterior pole that is characterized by a loss of vision in the center of the visual field (the macula) resulting from damage to the retina and resulting in blurring of the sharp central vision. (DO)
Synonyms:exact_synonym: age related maculopathies;   age related maculopathy;   senile macular degeneration;   senile macular retinal degeneration
 primary_id: RDO:9002163
 xref: ICD10CM:H35.30;   ICD9CM:362.50;   NCI:C84391;   OMIM:PS603075
For additional species annotation, visit the Alliance of Genome Resources.


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age related macular degeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP binding cassette subfamily A member 4 ISO ClinVar Annotator: match by term: MACULOPATHY, AGE-RELATED ClinVar PMID:8002831, PMID:9054934, PMID:9295268, PMID:9466990, PMID:9781034, PMID:9973280, PMID:10090887, PMID:10206579, PMID:10396622, PMID:10634594, PMID:10711710, PMID:10958763, PMID:11017087, PMID:11328725, PMID:11379881, PMID:11527935, PMID:11726554, PMID:11919200, PMID:12037008, PMID:12515255, PMID:12796258, PMID:14709597, PMID:15192030, PMID:15494742, PMID:15579991, PMID:16103129, PMID:16546111, PMID:16682602, PMID:17277736, PMID:18285826, PMID:18854780, PMID:18977788, PMID:19074458, PMID:19217903, PMID:19230850, PMID:20696155, PMID:21786275, PMID:22025579, PMID:22229821, PMID:22264887, PMID:22312191, PMID:22427542, PMID:22661473, PMID:23143460, PMID:23419329, PMID:23755871, PMID:23769331, PMID:24033266, PMID:24265693, PMID:24509150, PMID:24713488, PMID:25082885, PMID:25087612, PMID:25097241, PMID:25283059, PMID:25312043, PMID:25640233, PMID:25698705, PMID:25712131, PMID:25741868, PMID:25921964, PMID:26355662, PMID:26527198, PMID:26593885, PMID:27032803, PMID:27491360, PMID:27535533, PMID:27939946, PMID:28041643, PMID:28118664, PMID:28181551, PMID:28327576, PMID:28446513, PMID:28492532, PMID:28559085, PMID:29099798, PMID:29114839, PMID:29555955, PMID:29847635, PMID:29925512, PMID:30054919, PMID:30060493, PMID:30093795, PMID:30311386, PMID:30718709, PMID:92952680 NCBI chr 2:225,645,539...225,783,288
Ensembl chr 2:225,645,568...225,783,287
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISS MouseDO NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Ccr2 C-C motif chemokine receptor 2 ISS MouseDO
G Cd46 CD46 molecule ISS MouseDO NCBI chr13:113,786,525...113,818,741
Ensembl chr13:113,787,349...113,817,995
JBrowse link
G Cfhr1 complement factor H-related 1 ISO ClinVar Annotator: match by term: Age-related macular degeneration ClinVar PMID:16998489, PMID:17367211, PMID:18006700, PMID:20843825 NCBI chr13:56,862,666...56,877,650
Ensembl chr13:56,836,994...56,877,650
JBrowse link
G Htra1 HtrA serine peptidase 1 susceptibility ISO DNA:snp:promoter:g.-1894G>A (rs3793917) (human) RGD PMID:22618592 RGD:7394695 NCBI chr 1:201,499,067...201,548,508
Ensembl chr 1:201,499,028...201,548,513
JBrowse link
G Mdm1 Mdm1 nuclear protein ISS MouseDO NCBI chr 7:61,165,652...61,200,865
Ensembl chr 7:61,165,640...61,200,879
JBrowse link
G Ppargc1a PPARG coactivator 1 alpha ISS MouseDO NCBI chr14:63,095,291...63,190,688
Ensembl chr14:63,095,720...63,187,009
JBrowse link
G RGD1564614 similar to complement factor H-related protein ISO ClinVar Annotator: match by term: Age-related macular degeneration ClinVar PMID:16998489, PMID:17367211, PMID:18006700, PMID:20843825 NCBI chr13:56,889,669...56,958,549
Ensembl chr13:56,889,669...56,958,561
JBrowse link
age related macular degeneration 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoe apolipoprotein E ISO OMIM NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
JBrowse link
G Cfhr1 complement factor H-related 1 ISO OMIM NCBI chr13:56,862,666...56,877,650
Ensembl chr13:56,836,994...56,877,650
JBrowse link
G Cryba1 crystallin, beta A1 ISS OMIM:603075 MouseDO NCBI chr10:65,160,777...65,167,504
Ensembl chr10:65,161,152...65,167,494
JBrowse link
G Hmcn1 hemicentin 1 ISO ClinVar Annotator: match by term: Age-related macular degeneration 1
ClinVar Annotator: match by term: MACULOPATHY, AGE-RELATED, 1
ClinVar Annotator: match by OMIM:603075
OMIM
ClinVar
PMID:9715689, PMID:14570714, PMID:17216616, PMID:25133751, PMID:25338956, PMID:25986072, PMID:27007659, PMID:28492532 NCBI chr13:67,799,791...68,360,664
Ensembl chr13:67,799,791...68,360,664
JBrowse link
G RGD1564614 similar to complement factor H-related protein ISO ClinVar Annotator: match by term: Age-related macular degeneration 1 OMIM
ClinVar
PMID:25741868 NCBI chr13:56,889,669...56,958,549
Ensembl chr13:56,889,669...56,958,561
JBrowse link
G Vldlr very low density lipoprotein receptor ISS OMIM:603075 MouseDO NCBI chr 1:245,236,819...245,273,688
Ensembl chr 1:245,237,736...245,269,205
JBrowse link
age related macular degeneration 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tlr4 toll-like receptor 4 ISO OMIM NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
JBrowse link
age related macular degeneration 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cst3 cystatin C ISO ClinVar Annotator: match by OMIM:611953 OMIM
ClinVar
PMID:11815350, PMID:25893795 NCBI chr 3:143,219,671...143,223,544
Ensembl chr 3:143,219,686...143,223,615
JBrowse link
age related macular degeneration 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cx3cr1 C-X3-C motif chemokine receptor 1 ISO OMIM NCBI chr 8:128,740,756...128,754,514
Ensembl chr 8:128,740,756...128,754,514
JBrowse link
age related macular degeneration 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfi complement factor I susceptibility ISO ClinVar Annotator: match by term: MACULAR DEGENERATION, AGE-RELATED, 13, SUSCEPTIBILITY TO
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:20203157, PMID:20513133, PMID:23685748, PMID:25986072 NCBI chr 2:235,264,149...235,305,779
Ensembl chr 2:235,264,219...235,305,781
JBrowse link
age related macular degeneration 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C2 complement C2 ISO ClinVar Annotator: match by term: Age-related macular degeneration 14
ClinVar Annotator: match by OMIM:615489
OMIM
ClinVar
PMID:2249879, PMID:6308626, PMID:8181962, PMID:9670930, PMID:16518403, PMID:16936732, PMID:18806293, PMID:22440158, PMID:24033266 NCBI chr20:4,542,340...4,561,152
Ensembl chr20:4,542,340...4,561,152
JBrowse link
G Cfb complement factor B ISO ClinVar Annotator: match by term: Age-related macular degeneration 14 OMIM
ClinVar
PMID:2249879, PMID:6308626, PMID:8181962, PMID:16518403, PMID:16936732, PMID:18806293, PMID:22440158, PMID:24033266 NCBI chr20:4,536,206...4,542,073
Ensembl chr20:4,536,203...4,561,066
Ensembl chr20:4,536,203...4,561,066
JBrowse link
age related macular degeneration 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C9 complement C9 susceptibility ISO ClinVar Annotator: match by term: MACULAR DEGENERATION, AGE-RELATED, 15
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:24036952 NCBI chr 2:55,775,562...55,823,807
Ensembl chr 2:55,775,274...55,823,826
JBrowse link
age related macular degeneration 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP binding cassette subfamily A member 4 ISO ClinVar Annotator: match by term: 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
OMIM
ClinVar
PMID:8002831, PMID:9054934, PMID:9295268, PMID:9466990, PMID:9781034, PMID:9973280, PMID:10090887, PMID:10206579, PMID:10396622, PMID:10634594, PMID:10711710, PMID:10880298, PMID:10958763, PMID:11017087, PMID:11328725, PMID:11346402, PMID:11379881, PMID:11527935, PMID:11726554, PMID:11919200, PMID:12037008, PMID:12515255, PMID:12796258, PMID:14709597, PMID:15192030, PMID:15494742, PMID:15579991, PMID:15614537, PMID:16103129, PMID:16546111, PMID:16682602, PMID:17277736, PMID:18285826, PMID:18854780, PMID:18977788, PMID:19074458, PMID:19217903, PMID:19230850, PMID:20696155, PMID:21786275, PMID:22025579, PMID:22229821, PMID:22264887, PMID:22312191, PMID:22328824, PMID:22427542, PMID:22661473, PMID:23143460, PMID:23419329, PMID:23443024, PMID:23591405, PMID:23695285, PMID:23755871, PMID:23769331, PMID:24033266, PMID:24265693, PMID:24509150, PMID:24713488, PMID:25082885, PMID:25087612, PMID:25097241, PMID:25283059, PMID:25312043, PMID:25525159, PMID:25640233, PMID:25698705, PMID:25712131, PMID:25741868, PMID:25921964, PMID:26261413, PMID:26355662, PMID:26527198, PMID:26593885, PMID:26872967, PMID:26976702, PMID:27032803, PMID:27491360, PMID:27535533, PMID:27775217, PMID:27939946, PMID:28041643, PMID:28118664, PMID:28181551, PMID:28327576, PMID:28446513, PMID:28492532, PMID:28559085, PMID:29099798, PMID:29114839, PMID:29310964, PMID:29461686, PMID:29555955, PMID:29847635, PMID:29925512, PMID:30054919, PMID:30060493, PMID:30093795, PMID:30311386, PMID:30718709, PMID:92952680 NCBI chr 2:225,645,539...225,783,288
Ensembl chr 2:225,645,568...225,783,287
JBrowse link
Age Related Macular Degeneration 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbln5 fibulin 5 ISO ClinVar Annotator: match by OMIM:608895
ClinVar Annotator: match by term: Age-related macular degeneration 3
OMIM
ClinVar
PMID:15269314, PMID:16374472, PMID:16652333, PMID:17035250, PMID:19194475, PMID:20007835, PMID:20599547, PMID:21576112, PMID:23328402, PMID:24033266, PMID:25741868, PMID:28492532, PMID:28765615 NCBI chr 6:125,644,797...125,723,957
Ensembl chr 6:125,644,804...125,723,944
JBrowse link
age related macular degeneration 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfh complement factor H ISO ClinVar Annotator: match by term: Age-related macular degeneration 4 OMIM
ClinVar
PMID:8072530, PMID:11158219, PMID:11978762, PMID:12424708, PMID:12697737, PMID:15761120, PMID:15761121, PMID:15761122, PMID:15870199, PMID:15895326, PMID:16229850, PMID:16299065, PMID:16619239, PMID:16630992, PMID:16710702, PMID:16787919, PMID:16816528, PMID:16936732, PMID:16936733, PMID:17018561, PMID:17079491, PMID:17198853, PMID:17210858, PMID:17241667, PMID:17293598, PMID:17360715, PMID:17396242, PMID:17398321, PMID:17472578, PMID:17947292, PMID:18252232, PMID:18252712, PMID:18557729, PMID:19190809, PMID:19259132, PMID:19297022, PMID:20660596, PMID:21415311, PMID:21670343, PMID:21909106, PMID:21930971, PMID:21979047, PMID:22019782, PMID:22171659, PMID:22223606, PMID:22389686, PMID:22403278, PMID:22456601, PMID:23852337, PMID:24036949, PMID:24498017, PMID:24906858, PMID:25037630, PMID:25741868, PMID:25814826, PMID:25880396, PMID:26559391, PMID:28492532 NCBI chr13:56,979,155...57,080,540
Ensembl chr13:56,978,607...57,080,622
JBrowse link
age related macular degeneration 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc6 ERCC excision repair 6, chromatin remodeling factor susceptibility ISO ClinVar Annotator: match by OMIM:613761
ClinVar Annotator: match by term: Age-related macular degeneration 5
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:9443879, PMID:10767341, PMID:16754848, PMID:17854076, PMID:18414213, PMID:19894250, PMID:22661500, PMID:22904069, PMID:23422418, PMID:25136123, PMID:25741868, PMID:25820262, PMID:28492532, PMID:30311386 NCBI chr16:8,734,028...8,804,610
Ensembl chr16:8,734,035...8,804,610
JBrowse link
age related macular degeneration 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C3 complement C3 ISO DNA:SNPs, haplotype: :multiple RGD PMID:19899988 RGD:7401252 NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
JBrowse link
G Cfb complement factor B no_association ISO DNA:missense mutations:cds:p.L9H, p.R32L (rs4151667, rs641153) (human) RGD PMID:19899988 RGD:7401252 NCBI chr20:4,536,206...4,542,073
Ensembl chr20:4,536,203...4,561,066
Ensembl chr20:4,536,203...4,561,066
JBrowse link
G Htra1 HtrA serine peptidase 1 susceptibility
severity
ISO ClinVar Annotator: match by OMIM:610149
DNA:polymorphisms:multiple (human)
DNA:snp:promoter:g.-497C>T (rs2672598) (human)
DNA:snps:promoter, exons:g.-497C>T, g.+108G>T/C, g.5230C>T (rs2672598, rs2293870, rs1049331) (human)
DNA:snp:intron:g.IVS1+9824G>A (rs932275) (human)
OMIM
ClinVar
PMID:17053108, PMID:17053109, PMID:17568988, PMID:18511946, PMID:19259132, PMID:18207215, PMID:18436811, PMID:19796758, PMID:19933195, PMID:20157352 RGD:7394722, RGD:7394721, RGD:7394719, RGD:7394713, RGD:7387295 NCBI chr 1:201,499,067...201,548,508
Ensembl chr 1:201,499,028...201,548,513
JBrowse link
age related macular degeneration 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C3 complement C3 ISO ClinVar Annotator: match by term: MACULAR DEGENERATION, AGE-RELATED, 9, SUSCEPTIBILITY TO
ClinVar Annotator: match by term: Age-related macular degeneration 9
OMIM
ClinVar
PMID:1976733, PMID:7870343, PMID:14639503, PMID:16687714, PMID:17634448, PMID:17767156, PMID:18325906, PMID:18796626, PMID:19168221, PMID:19259132, PMID:20595690, PMID:20664795, PMID:21576320, PMID:22718507, PMID:23112567, PMID:23314101, PMID:23431077, PMID:23455636, PMID:24036949, PMID:24036950, PMID:24036952, PMID:24736606, PMID:24845532, PMID:25608561, PMID:25741868, PMID:25951460, PMID:26613027, PMID:28492532 NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
JBrowse link
Stargardt disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP binding cassette subfamily A member 4 ISO ClinVar Annotator: match by term: Stargardt disease
ClinVar Annotator: match by term: STGD
ClinVar Annotator: match by term: STARGARDT DISEASE
ClinVar Annotator: match by term: Stargardt's disease
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Stargardt disease 1
ClinVar
CTD
PMID:8002831, PMID:9054934, PMID:9295268, PMID:9466990, PMID:9490294, PMID:9503029, PMID:9666097, PMID:9781034, PMID:9973280, PMID:10090887, PMID:10206579, PMID:10396622, PMID:10413692, PMID:10458172, PMID:10612508, PMID:10634594, PMID:10634626, PMID:10711710, PMID:10746567, PMID:10880298, PMID:10958761, PMID:10958763, PMID:11017087, PMID:11123914, PMID:11328725, PMID:11379881, PMID:11385708, PMID:11527935, PMID:11687513, PMID:11702214, PMID:11726554, PMID:11818392, PMID:11846518, PMID:11919200, PMID:11973624, PMID:12037008, PMID:12192456, PMID:12515255, PMID:12592048, PMID:12796258, PMID:14517951, PMID:14709597, PMID:15161829, PMID:15192030, PMID:15494742, PMID:15516930, PMID:15579991, PMID:15614537, PMID:16103129, PMID:16123440, PMID:16303926, PMID:16400609, PMID:16546111, PMID:16682602, PMID:17277736, PMID:17325136, PMID:17325179, PMID:17982420, PMID:18024811, PMID:18285826, PMID:18652558, PMID:18854780, PMID:18977788, PMID:19028736, PMID:19074458, PMID:19217903, PMID:19230850, PMID:19243736, PMID:19265867, PMID:20029649, PMID:20335603, PMID:20404325, PMID:20647261, PMID:20696155, PMID:20981092, PMID:21293320, PMID:21330655, PMID:21786275, PMID:21873672, PMID:21911583, PMID:22025579, PMID:22076985, PMID:22229821, PMID:22247458, PMID:22264887, PMID:22312191, PMID:22328824, PMID:22427542, PMID:22449572, PMID:22589445, PMID:22661472, PMID:22661473, PMID:22735453, PMID:22968130, PMID:22995991, PMID:23096905, PMID:23105016, PMID:23134348, PMID:23143460, PMID:23144455, PMID:23419329, PMID:23443024, PMID:23499370, PMID:23591405, PMID:23695285, PMID:23755871, PMID:23769331, PMID:23918662, PMID:23940504, PMID:23953153, PMID:23982839, PMID:24011517, PMID:24020726, PMID:24033266, PMID:24082139, PMID:24097981, PMID:24154662, PMID:24265693, PMID:24273789, PMID:24342785, PMID:24409374, PMID:24453473, PMID:24509150, PMID:24550365, PMID:24632595, PMID:24713488, PMID:24763286, PMID:24938718, PMID:25066811, PMID:25082885, PMID:25087612, PMID:25097241, PMID:25283059, PMID:25301883, PMID:25312043, PMID:25333069, PMID:25346251, PMID:25356976, PMID:25412400, PMID:25472526, PMID:25525159, PMID:25544989, PMID:25640233, PMID:25698705, PMID:25712131, PMID:25741868, PMID:25884411, PMID:25910913, PMID:25921964, PMID:26092729, PMID:26103963, PMID:26161775, PMID:26229699, PMID:26247787, PMID:26261413, PMID:26355662, PMID:26527198, PMID:26593885, PMID:26780318, PMID:26872967, PMID:26976702, PMID:27014590, PMID:27032803, PMID:27367509, PMID:27491360, PMID:27535533, PMID:27699414, PMID:27739528, PMID:27775217, PMID:27820952, PMID:27939946, PMID:28041643, PMID:28118664, PMID:28130426, PMID:28181551, PMID:28224992, PMID:28327576, PMID:28341476, PMID:28446513, PMID:28492532, PMID:28559085, PMID:28947085, PMID:29099798, PMID:29114839, PMID:29145636, PMID:29162642, PMID:29186038, PMID:29310964, PMID:29343940, PMID:29422768, PMID:29461686, PMID:29555955, PMID:29847635, PMID:29854428, PMID:29925512, PMID:29971439, PMID:29975949, PMID:30054919, PMID:30060493, PMID:30093795, PMID:30311386, PMID:30337596, PMID:30718709, PMID:30834176, PMID:31144483, PMID:31576780, PMID:31814693, PMID:31968401, PMID:92952680 NCBI chr 2:225,645,539...225,783,288
Ensembl chr 2:225,645,568...225,783,287
JBrowse link
G Best1 bestrophin 1 ISO ClinVar Annotator: match by term: Stargardt disease ClinVar PMID:10854112, PMID:16754206, PMID:18179881, PMID:21192766, PMID:21273940, PMID:21330666, PMID:21809908, PMID:21825197, PMID:23290749, PMID:26200502, PMID:26333019, PMID:27519691, PMID:28492532, PMID:30718709 NCBI chr 1:226,033,146...226,049,893
Ensembl chr 1:226,030,875...226,049,929
JBrowse link
G Cngb3 cyclic nucleotide gated channel subunit beta 3 ISO ClinVar Annotator: match by term: STGD ClinVar PMID:15161866, PMID:16379026, PMID:22975760, PMID:22995991, PMID:24504161, PMID:25741868, PMID:28492532, PMID:28795510 NCBI chr 5:33,097,353...33,507,467
Ensembl chr 5:33,097,654...33,507,467
JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Stargardt disease ClinVar NCBI chr 7:139,454,945...139,484,403
Ensembl chr 7:139,455,242...139,483,997
JBrowse link
G Crb1 crumbs cell polarity complex component 1 ISO ClinVar Annotator: match by term: Stargardt disease ClinVar PMID:15459956, PMID:20956273, PMID:22065545, PMID:24535598, PMID:27258436, PMID:28492532 NCBI chr13:56,270,519...56,462,893
Ensembl chr13:56,270,781...56,462,834
JBrowse link
G Crx cone-rod homeobox ISO ClinVar Annotator: match by term: Stargardt disease ClinVar PMID:30718709 NCBI chr 1:77,744,593...77,758,913
Ensembl chr 1:77,745,288...77,750,960
JBrowse link
G Elovl4 ELOVL fatty acid elongase 4 ISS OMIM:248200 | OMIM:600110 | OMIM:603786 MouseDO NCBI chr 8:91,310,690...91,338,625
Ensembl chr 8:91,310,630...91,338,843
JBrowse link
G Flvcr1 FLVCR heme transporter 1 ISO ClinVar Annotator: match by term: Stargardt disease ClinVar PMID:30718709 NCBI chr13:109,624,167...109,629,609
Ensembl chr13:109,578,074...109,629,482
JBrowse link
G Kcnv2 potassium voltage-gated channel modifier subfamily V member 2 ISO ClinVar Annotator: match by term: Stargardt disease ClinVar PMID:8333273, PMID:18235024, PMID:30718709 NCBI chr 1:245,396,880...245,475,011
Ensembl chr 1:245,396,989...245,416,531
JBrowse link
G Prom1 prominin 1 ISS
ISO
OMIM:248200 | OMIM:600110 | OMIM:603786
ClinVar Annotator: match by term: Stargardt disease
MouseDO
ClinVar
PMID:10205271, PMID:12657606, PMID:18654668, PMID:20393116, PMID:20859302, PMID:22183351, PMID:22581970, PMID:25356976, PMID:28041643, PMID:28492532, PMID:28559085, PMID:29847639, PMID:30718709 NCBI chr14:71,532,321...71,637,400
Ensembl chr14:71,533,063...71,637,417
JBrowse link
G Prph2 peripherin 2 ISO ClinVar Annotator: match by term: Stargardt disease
ClinVar Annotator: match by term: Stargardt's disease
ClinVar PMID:4142662, PMID:7493155, PMID:7519821, PMID:7862413, PMID:7880786, PMID:8015786, PMID:8111389, PMID:8302543, PMID:8485576, PMID:8644804, PMID:8675410, PMID:8747448, PMID:9010868, PMID:9279751, PMID:9331261, PMID:9443872, PMID:11139241, PMID:11934323, PMID:12042139, PMID:12566026, PMID:15370544, PMID:16024869, PMID:16113362, PMID:16799052, PMID:16885924, PMID:16916875, PMID:17296903, PMID:17504850, PMID:19038374, PMID:19243827, PMID:21071739, PMID:22466463, PMID:22581970, PMID:22863181, PMID:23591405, PMID:24463884, PMID:24608669, PMID:25001182, PMID:25082885, PMID:25097241, PMID:25324289, PMID:25447119, PMID:25675413, PMID:25698705, PMID:25741868, PMID:26024099, PMID:26061163, PMID:26842753, PMID:27365499, PMID:28041643, PMID:28076437, PMID:28492532, PMID:28559085, PMID:29555955, PMID:30311386, PMID:30718709 NCBI chr 9:16,085,933...16,386,176 JBrowse link
G Snrnp200 small nuclear ribonucleoprotein U5 subunit 200 ISO ClinVar Annotator: match by term: Stargardt disease ClinVar PMID:30718709 NCBI chr 3:119,640,324...119,669,651
Ensembl chr 3:119,640,298...119,669,639
JBrowse link
G Tulp1 TUB like protein 1 ISO ClinVar Annotator: match by term: Stargardt disease ClinVar PMID:25741868 NCBI chr20:7,931,673...7,943,601
Ensembl chr20:7,931,674...7,943,575
JBrowse link
Stargardt Disease 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP binding cassette subfamily A member 4 susceptibility
treatment
ISO ClinVar Annotator: match by term: MACULAR DYSTROPHY WITH FLECKS, TYPE 1
ClinVar Annotator: match by term: Stargardt disease 1
ClinVar Annotator: match by term: Stargardt Disease, Recessive
ClinVar Annotator: match by term: Fundus flavimaculatus
ClinVar Annotator: match by term: STGD
ClinVar Annotator: match by term: STARGARDT DISEASE
ClinVar Annotator: match by OMIM:248200
DNA:mutation:exon:c.2041C>T(human)
DNA:mutations:multiple:
OMIM
ClinVar
PMID:8002831, PMID:9054934, PMID:9295268, PMID:9466990, PMID:9490294, PMID:9503029, PMID:9666097, PMID:9781034, PMID:9973280, PMID:10090887, PMID:10206579, PMID:10396622, PMID:10413692, PMID:10458172, PMID:10509673, PMID:10612508, PMID:10634594, PMID:10634626, PMID:10711710, PMID:10746567, PMID:10874631, PMID:10880298, PMID:10958761, PMID:10958763, PMID:11017087, PMID:11123914, PMID:11328725, PMID:11346402, PMID:11379881, PMID:11385708, PMID:11527935, PMID:11687513, PMID:11702214, PMID:11726554, PMID:11818392, PMID:11846518, PMID:11857735, PMID:11919200, PMID:11973624, PMID:12037008, PMID:12192456, PMID:12515255, PMID:12592048, PMID:12796258, PMID:12962493, PMID:14517951, PMID:14709597, PMID:14971589, PMID:15108289, PMID:15161829, PMID:15192030, PMID:15494742, PMID:15516930, PMID:15579991, PMID:15614537, PMID:16103129, PMID:16123440, PMID:16303926, PMID:16400609, PMID:16546111, PMID:16682602, PMID:16917483, PMID:17277736, PMID:17296903, PMID:17325136, PMID:17325179, PMID:17724221, PMID:17982420, PMID:18024811, PMID:18285826, PMID:18414213, PMID:18652558, PMID:18854780, PMID:18977788, PMID:19028736, PMID:19074458, PMID:19217903, PMID:19230850, PMID:19243736, PMID:19265867, PMID:19365591, PMID:20029649, PMID:20108432, PMID:20128570, PMID:20335603, PMID:20404325, PMID:20647261, PMID:20696155, PMID:20981092, PMID:21293320, PMID:21330655, PMID:21786275, PMID:21873672, PMID:21911583, PMID:22025579, PMID:22076985, PMID:22229821, PMID:22247458, PMID:22264887, PMID:22312191, PMID:22328824, PMID:22427542, PMID:22449572, PMID:22589445, PMID:22661472, PMID:22661473, PMID:22735453, PMID:22863181, PMID:22968130, PMID:22995991, PMID:23096905, PMID:23105016, PMID:23134348, PMID:23143460, PMID:23144455, PMID:23419329, PMID:23424971, PMID:23443024, PMID:23499370, PMID:23591405, PMID:23695285, PMID:23755871, PMID:23769331, PMID:23776498, PMID:23918662, PMID:23940504, PMID:23949494, PMID:23953153, PMID:23982839, PMID:24011517, PMID:24020726, PMID:24033266, PMID:24082139, PMID:24097981, PMID:24154662, PMID:24265693, PMID:24273789, PMID:24342785, PMID:24409374, PMID:24444108, PMID:24453473, PMID:24509150, PMID:24550365, PMID:24585425, PMID:24632595, PMID:24713488, PMID:24743636, PMID:24763286, PMID:24938718, PMID:25066811, PMID:25082885, PMID:25087612, PMID:25097241, PMID:25283059, PMID:25301883, PMID:25312043, PMID:25333069, PMID:25346251, PMID:25356976, PMID:25412400, PMID:25444351, PMID:25472526, PMID:25474345, PMID:25525159, PMID:25544989, PMID:25640233, PMID:25698705, PMID:25712131, PMID:25741868, PMID:25884411, PMID:25910913, PMID:25921964, PMID:26024099, PMID:26047050, PMID:26092729, PMID:26103963, PMID:26161775, PMID:26229699, PMID:26247787, PMID:26261413, PMID:26355662, PMID:26377081, PMID:26527198, PMID:26551331, PMID:26593885, PMID:26720470, PMID:26780318, PMID:26872967, PMID:26976702, PMID:27014590, PMID:27032803, PMID:27367509, PMID:27491360, PMID:27535533, PMID:27628848, PMID:27699414, PMID:27739528, PMID:27775217, PMID:27820952, PMID:27939946, PMID:28041643, PMID:28118664, PMID:28130426, PMID:28181551, PMID:28224992, PMID:28327576, PMID:28341476, PMID:28355279, PMID:28446513, PMID:28492532, PMID:28512305, PMID:28559085, PMID:28947085, PMID:29099798, PMID:29114839, PMID:29145636, PMID:29162642, PMID:29186038, PMID:29310964, PMID:29343940, PMID:29422768, PMID:29461686, PMID:29555955, PMID:29847635, PMID:29847651, PMID:29854428, PMID:29925512, PMID:29971439, PMID:29975949, PMID:30054919, PMID:30060493, PMID:30093795, PMID:30311386, PMID:30337596, PMID:30576320, PMID:30670881, PMID:30718709, PMID:30834176, PMID:31015497, PMID:31144483, PMID:31576780, PMID:31814693, PMID:92952680, PMID:24342785, PMID:18463687, PMID:18463687, PMID:22328824 RGD:7829716, RGD:7815046, RGD:7815046, RGD:7815045 NCBI chr 2:225,645,539...225,783,288
Ensembl chr 2:225,645,568...225,783,287
JBrowse link
G Cngb3 cyclic nucleotide gated channel subunit beta 3 ISO ClinVar Annotator: match by term: Stargardt Disease, Recessive
ClinVar Annotator: match by term: Stargardt disease 1
ClinVar PMID:1347967, PMID:10888875, PMID:10958649, PMID:11124331, PMID:12815043, PMID:14757870, PMID:15161866, PMID:15223812, PMID:15657609, PMID:15712225, PMID:16379026, PMID:17265047, PMID:22975760, PMID:22995991, PMID:23776498, PMID:23805033, PMID:24033266, PMID:24504161, PMID:25205868, PMID:25474149, PMID:25616768, PMID:25741868, PMID:25770143, PMID:26106334, PMID:28041643, PMID:28492532, PMID:28795510, PMID:30311386, PMID:30718709, PMID:32860008 NCBI chr 5:33,097,353...33,507,467
Ensembl chr 5:33,097,654...33,507,467
JBrowse link
G Kcnv2 potassium voltage-gated channel modifier subfamily V member 2 ISO ClinVar Annotator: match by term: Fundus flavimaculatus ClinVar PMID:8333273, PMID:18235024, PMID:30718709 NCBI chr 1:245,396,880...245,475,011
Ensembl chr 1:245,396,989...245,416,531
JBrowse link
G Mfsd8 major facilitator superfamily domain containing 8 ISO ClinVar Annotator: match by term: Stargardt disease 1 ClinVar PMID:25333361, PMID:28041643, PMID:28492532, PMID:28586915 NCBI chr 2:127,706,618...127,784,129
Ensembl chr 2:127,699,761...127,781,003
JBrowse link
G Prom1 prominin 1 ISO ClinVar Annotator: match by term: Fundus flavimaculatus ClinVar PMID:10205271, PMID:12657606, PMID:18654668, PMID:20393116, PMID:20859302, PMID:22183351, PMID:22581970, PMID:25356976, PMID:28041643, PMID:28492532, PMID:28559085, PMID:29847639, PMID:30718709 NCBI chr14:71,532,321...71,637,400
Ensembl chr14:71,533,063...71,637,417
JBrowse link
G Prph2 peripherin 2 ISO ClinVar Annotator: match by term: Fundus flavimaculatus ClinVar PMID:4142662, PMID:7493155, PMID:7519821, PMID:7862413, PMID:7880786, PMID:8015786, PMID:8111389, PMID:8302543, PMID:8485576, PMID:8644804, PMID:8675410, PMID:8747448, PMID:9010868, PMID:9279751, PMID:9331261, PMID:9443872, PMID:11139241, PMID:11934323, PMID:12042139, PMID:15370544, PMID:16024869, PMID:16113362, PMID:16799052, PMID:16885924, PMID:16916875, PMID:17296903, PMID:17504850, PMID:19038374, PMID:19243827, PMID:21071739, PMID:22466463, PMID:22581970, PMID:22863181, PMID:23591405, PMID:24463884, PMID:25001182, PMID:25082885, PMID:25097241, PMID:25324289, PMID:25447119, PMID:25675413, PMID:25698705, PMID:25741868, PMID:26024099, PMID:26061163, PMID:26842753, PMID:27365499, PMID:28041643, PMID:28076437, PMID:28492532, PMID:28559085, PMID:29555955, PMID:30718709 NCBI chr 9:16,085,933...16,386,176 JBrowse link
Stargardt Disease 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elovl4 ELOVL fatty acid elongase 4 ISO ClinVar Annotator: match by term: Stargardt Disease 3
ClinVar Annotator: match by OMIM:600110
OMIM
ClinVar
PMID:11138005, PMID:15028284, PMID:15557430, PMID:22948568, PMID:23509295, PMID:24833735, PMID:25326635, PMID:25741868, PMID:28492532 NCBI chr 8:91,310,690...91,338,625
Ensembl chr 8:91,310,630...91,338,843
JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 ISO mRNA,protein:increased expression:optic cup: RGD PMID:22199241 RGD:10402074 NCBI chr16:71,265,390...71,319,046
Ensembl chr16:71,266,248...71,319,449
JBrowse link
Stargardt Disease 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elovl4 ELOVL fatty acid elongase 4 ISO ClinVar Annotator: match by term: Stargardt Disease, Dominant ClinVar NCBI chr 8:91,310,690...91,338,625
Ensembl chr 8:91,310,630...91,338,843
JBrowse link
G Prom1 prominin 1 ISO ClinVar Annotator: match by term: Stargardt disease 4
ClinVar Annotator: match by term: Stargardt Disease, Dominant
OMIM
ClinVar
PMID:10205271, PMID:12657606, PMID:18654668, PMID:20393116, PMID:20859302, PMID:22183351, PMID:22581970, PMID:23757202, PMID:24265693, PMID:25356976, PMID:25741868, PMID:25910913, PMID:26161267, PMID:26355662, PMID:26393467, PMID:27208204, PMID:28041643, PMID:28492532, PMID:28559085, PMID:29416601, PMID:29847639, PMID:30718709, PMID:31576780 NCBI chr14:71,532,321...71,637,400
Ensembl chr14:71,533,063...71,637,417
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Diseases of the Aged 1249
      macular degeneration 155
        degeneration of macula and posterior pole 67
          age related macular degeneration 38
            Age Related Macular Degeneration 3 1
            Stargardt disease + 15
            age related macular degeneration 1 6
            age related macular degeneration 10 1
            age related macular degeneration 11 1
            age related macular degeneration 12 1
            age related macular degeneration 13 1
            age related macular degeneration 14 2
            age related macular degeneration 15 1
            age related macular degeneration 2 1
            age related macular degeneration 4 1
            age related macular degeneration 5 1
            age related macular degeneration 6 0
            age related macular degeneration 7 3
            age related macular degeneration 8 0
            age related macular degeneration 9 1
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        central nervous system disease 9045
          neurodegenerative disease 3201
            eye degenerative disease 470
              retinal degeneration 468
                macular degeneration 155
                  degeneration of macula and posterior pole 67
                    age related macular degeneration 38
                      Age Related Macular Degeneration 3 1
                      Stargardt disease + 15
                      age related macular degeneration 1 6
                      age related macular degeneration 10 1
                      age related macular degeneration 11 1
                      age related macular degeneration 12 1
                      age related macular degeneration 13 1
                      age related macular degeneration 14 2
                      age related macular degeneration 15 1
                      age related macular degeneration 2 1
                      age related macular degeneration 4 1
                      age related macular degeneration 5 1
                      age related macular degeneration 6 0
                      age related macular degeneration 7 3
                      age related macular degeneration 8 0
                      age related macular degeneration 9 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.