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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:retinal disease
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Accession:DOID:5679 term browser browse the term
Definition:An eye disease that is located_in the retina. (DO)
Synonyms:exact_synonym: retinal diseases
 primary_id: MESH:D012164
 xref: EFO:0003839;   ICD10CM:H35.9;   ICD9CM:362.9;   NCI:C26875;   NCI:C62601
For additional species annotation, visit the Alliance of Genome Resources.



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retinal disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abat 4-aminobutyrate aminotransferase ISO RGD PMID:18412635 RGD:9588533 NCBI chr10:6,996,688...7,092,835
Ensembl chr10:6,999,819...7,092,835
JBrowse link
G Apoe apolipoprotein E susceptibility ISO RGD PMID:17562993 RGD:7495760 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
JBrowse link
G Aqp4 aquaporin 4 IEP RGD PMID:18836575 RGD:5490154 NCBI chr18:6,507,903...6,524,558
Ensembl chr18:6,507,903...6,524,856
JBrowse link
G Atxn1 ataxin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28182653 NCBI chr17:18,737,491...19,142,360
Ensembl chr17:18,737,533...19,142,360
JBrowse link
G Casp3 caspase 3 IEP protein:increased expression:retina RGD PMID:18836575 RGD:5490154 NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648
JBrowse link
G Cat catalase treatment IEP associated with radiation injuries;protein:decreased activity:retina: RGD PMID:17514533 RGD:9107626 NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
JBrowse link
G Cdh23 cadherin-related 23 ISO RGD PMID:14609561 RGD:8662280 NCBI chr20:28,240,643...28,622,490
Ensembl chr20:28,240,645...28,622,419
JBrowse link
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Retinal Diseases ClinVar PMID:9536098 PMID:17576681 PMID:19959640 PMID:21153841 PMID:25741868 More... NCBI chr 7:35,310,071...35,399,388
Ensembl chr 7:35,310,199...35,399,392
JBrowse link
G Chat choline O-acetyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23075401 NCBI chr16:7,657,362...7,717,093
Ensembl chr16:7,657,362...7,717,093
JBrowse link
G Col9a1 collagen type IX alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:16909383 NCBI chr 9:26,585,034...26,668,222
Ensembl chr 9:26,585,034...26,668,213
JBrowse link
G Epas1 endothelial PAS domain protein 1 ISO RGD PMID:14608355 RGD:734934 NCBI chr 6:7,790,236...7,871,717
Ensembl chr 6:7,790,647...7,871,228
JBrowse link
G Ercc8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit ISO RGD PMID:17145777 RGD:10401109 NCBI chr 2:39,647,393...39,686,229
Ensembl chr 2:39,647,452...39,684,859
JBrowse link
G Fzd4 frizzled class receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17103440 NCBI chr 1:143,279,934...143,288,799
Ensembl chr 1:143,280,065...143,285,724
JBrowse link
G Gfap glial fibrillary acidic protein IEP protein:increased expression:retina RGD PMID:18836575 RGD:5490154 NCBI chr10:87,852,891...87,861,631
Ensembl chr10:87,852,890...87,861,589
JBrowse link
G Grk1 G protein-coupled receptor kinase 1 IEP mRNA, protein:decreased expression:retina RGD PMID:10549637 RGD:1600004 NCBI chr16:76,122,501...76,135,792
Ensembl chr16:76,123,842...76,135,792
JBrowse link
G Hmox1 heme oxygenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23075401 NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19324842 NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
JBrowse link
G Il10 interleukin 10 treatment ISO RGD PMID:23720065 PMID:21273540 RGD:7364808, RGD:7364850 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
JBrowse link
G Inpp1 inositol polyphosphate-1-phosphatase ISO ClinVar Annotator: match by term: Retinal Diseases ClinVar NCBI chr 9:48,688,037...48,717,793
Ensembl chr 9:48,669,901...48,717,793
JBrowse link
G Map2k3 mitogen activated protein kinase kinase 3 treatment IDA RGD PMID:16805832 RGD:7495810 NCBI chr10:45,608,145...45,629,492
Ensembl chr10:45,607,163...45,629,492
JBrowse link
G Mdm1 Mdm1 nuclear protein ISO ClinVar Annotator: match by term: Retinal Diseases ClinVar PMID:25741868 NCBI chr 7:53,729,603...53,766,034
Ensembl chr 7:53,729,610...53,766,034
JBrowse link
G Mir183 microRNA 183 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27208084 NCBI chr 4:58,788,614...58,788,723
Ensembl chr 4:58,788,614...58,788,723
JBrowse link
G Mir96 microRNA 96 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27208084 NCBI chr 4:58,788,411...58,788,516
Ensembl chr 4:58,788,411...58,788,516
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23075401 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO RGD PMID:20532821 RGD:7387239 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
JBrowse link
G Mtnr1a melatonin receptor 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21915336 NCBI chr16:47,144,461...47,163,919
Ensembl chr16:47,144,461...47,163,919
JBrowse link
G Nek9 NIMA-related kinase 9 ISO ClinVar Annotator: match by term: Retinal Diseases ClinVar NCBI chr 6:104,944,056...104,984,538
Ensembl chr 6:104,944,056...104,984,538
JBrowse link
G Nos2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23075401 NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
JBrowse link
G Ocln occludin ISO CTD Direct Evidence: marker/mechanism CTD PMID:19324842 NCBI chr 2:31,657,217...31,707,466
Ensembl chr 2:31,657,220...31,764,150
JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO CTD Direct Evidence: therapeutic CTD PMID:11840346 NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984
JBrowse link
G Pkd2 polycystin 2, transient receptor potential cation channel ISO CTD Direct Evidence: marker/mechanism CTD PMID:25013951 NCBI chr14:5,237,135...5,280,455
Ensembl chr14:5,237,135...5,280,825
JBrowse link
G Prph2 peripherin 2 IEP RGD PMID:8320859 RGD:8553226 NCBI chr 9:14,066,149...14,081,454
Ensembl chr 9:14,066,156...14,081,454
JBrowse link
G Ptprc protein tyrosine phosphatase, receptor type, C ISO CTD Direct Evidence: marker/mechanism CTD PMID:19324842 NCBI chr13:49,596,193...49,708,283
Ensembl chr13:49,596,193...49,708,692
JBrowse link
G Sdccag8 SHH signaling and ciliogenesis regulator SDCCAG8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20835237 NCBI chr13:88,754,521...88,979,363
Ensembl chr13:88,754,626...89,097,111
JBrowse link
G Sirt1 sirtuin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23217256 NCBI chr20:25,307,225...25,329,273
Ensembl chr20:25,306,917...25,329,260
JBrowse link
G Tenm4 teneurin transmembrane protein 4 ISO ClinVar Annotator: match by term: Retinal Diseases ClinVar NCBI chr 1:149,895,097...151,263,315
Ensembl chr 1:150,780,381...151,259,144
JBrowse link
G Thy1 Thy-1 cell surface antigen IEP
ISO
protein:decreased expression:retina
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:23075401 PMID:18836575 RGD:5490154 NCBI chr 8:44,389,495...44,394,688
Ensembl chr 8:44,389,513...44,394,659
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19324842 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
G Ttpa alpha tocopherol transfer protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:11752462 NCBI chr 5:33,497,537...33,518,936
Ensembl chr 5:33,497,137...33,518,073
JBrowse link
G Uchl1 ubiquitin C-terminal hydrolase L1 IEP mRNA:decreased expression:retina RGD PMID:18836575 RGD:5490154 NCBI chr14:41,485,031...41,495,590
Ensembl chr14:41,485,031...41,495,590
JBrowse link
G Vegfa vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:19324842 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
JBrowse link
G Vim vimentin ISO CTD Direct Evidence: marker/mechanism CTD PMID:23075401 NCBI chr17:76,668,701...76,677,186
Ensembl chr17:76,668,647...76,677,187
JBrowse link
G Vsx1 visual system homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15051220 NCBI chr 3:139,514,270...139,521,869
Ensembl chr 3:139,514,270...139,521,869
JBrowse link
acute retinal necrosis syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ifng interferon gamma ISO associated with Herpes Zoster;protein:increased expression:vitreous humor: RGD PMID:12928903 RGD:8142380 NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
JBrowse link
G Itga2 integrin subunit alpha 2 ISO protein:increased expression:eye anterior segment, natural killer cell (mouse) RGD PMID:19387084 RGD:8693207 NCBI chr 2:46,520,345...46,621,487
Ensembl chr 2:46,523,948...46,621,481
JBrowse link
G RT1-CE13 RT1 class I, locus CE13 ISO DNA:polymorphisms:cds:HLA-Bw62 (human) RGD PMID:2801857 RGD:7365119 NCBI chr20:3,314,830...3,318,106 JBrowse link
age related macular degeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP binding cassette subfamily A member 4 ISO ClinVar Annotator: match by term: Age-related macular degeneration | ClinVar Annotator: match by term: MACULAR DEGENERATION, SENILE | ClinVar Annotator: match by term: MACULOPATHY, AGE-RELATED ClinVar PMID:9054934 PMID:9295268 PMID:9466990 PMID:9490294 PMID:9503029 More... NCBI chr 2:210,164,813...210,302,069
Ensembl chr 2:210,164,813...210,302,069
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISS MouseDO NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
JBrowse link
G Ccr2 C-C motif chemokine receptor 2 ISS MouseDO NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
JBrowse link
G Cd46 CD46 molecule ISS MouseDO NCBI chr13:106,575,586...106,606,325
Ensembl chr13:106,574,858...106,660,445
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 chr13:51,395,583...51,410,571
Ensembl chr13:51,369,211...51,410,592
JBrowse link
G Fbln5 fibulin 5 ISO ClinVar Annotator: match by term: Age-related macular degeneration ClinVar PMID:15269314 PMID:16652333 PMID:20007835 PMID:20599547 PMID:21576112 More... NCBI chr 6:120,899,219...120,977,829
Ensembl chr 6:120,899,224...120,977,755
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 1:185,497,815...185,547,380
Ensembl chr 1:185,497,735...185,547,379
JBrowse link
G Ppargc1a PPARG coactivator 1 alpha ISS MouseDO NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656
JBrowse link
age related macular degeneration 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoe apolipoprotein E ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Age related macular degeneration 1 | ClinVar Annotator: match by term: MACULOPATHY, AGE-RELATED, 1
CTD
OMIM
ClinVar
PMID:8488843 PMID:9279208 PMID:9360638 PMID:22949395 PMID:24126160 More... NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
JBrowse link
G Cfhr1 complement factor H-related 1 susceptibility ISO CTD Direct Evidence: marker/mechanism CTD
OMIM
NCBI chr13:51,395,583...51,410,571
Ensembl chr13:51,369,211...51,410,592
JBrowse link
G Cryba1 crystallin, beta A1 ISS OMIM:603075 MouseDO NCBI chr10:62,608,373...62,614,726
Ensembl chr10:62,608,383...62,614,726
JBrowse link
G Hmcn1 hemicentin 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Age related macular degeneration 1 | ClinVar Annotator: match by term: MACULOPATHY, AGE-RELATED, 1
OMIM
CTD
ClinVar
PMID:9536098 PMID:9715689 PMID:14570714 PMID:17216616 PMID:17576681 More... NCBI chr13:62,615,461...63,084,524
Ensembl chr13:62,615,461...63,084,524
JBrowse link
G Vldlr very low density lipoprotein receptor ISS OMIM:603075 MouseDO NCBI chr 1:224,813,539...224,850,400
Ensembl chr 1:224,814,377...224,845,920
JBrowse link
age related macular degeneration 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cst3 cystatin C ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Age related macular degeneration 11
OMIM
CTD
ClinVar
PMID:11815350 PMID:25741868 PMID:25893795 PMID:28492532 PMID:33116287 NCBI chr 3:136,336,923...136,340,796
Ensembl chr 3:136,336,920...136,340,822
JBrowse link
age related macular degeneration 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cx3cr1 C-X3-C motif chemokine receptor 1 ISO
ISS
ClinVar Annotator: match by term: Age related macular degeneration 12
OMIM:613784
OMIM
ClinVar
MouseDO
PMID:25741868 NCBI chr 8:119,785,726...119,799,431
Ensembl chr 8:119,782,595...119,800,014
JBrowse link
age related macular degeneration 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfi complement factor I susceptibility ISO ClinVar Annotator: match by term: Age related macular degeneration 13 | ClinVar Annotator: match by term: Macular degeneration, age-related, 13, susceptibility to ClinVar
OMIM
PMID:849647 PMID:8613545 PMID:9536098 PMID:15917334 PMID:16199547 More... NCBI chr 2:218,389,079...218,430,565
Ensembl chr 2:218,387,990...218,430,561
JBrowse link
age related macular degeneration 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP binding cassette subfamily A member 4 ISO ClinVar Annotator: match by term: MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF ClinVar PMID:9054934 PMID:9973280 PMID:10090887 PMID:10612508 PMID:10634594 More... NCBI chr 2:210,164,813...210,302,069
Ensembl chr 2:210,164,813...210,302,069
JBrowse link
G C2 complement C2 ISO ClinVar Annotator: match by term: Age related macular degeneration 14 OMIM
ClinVar
PMID:2249879 PMID:6308626 PMID:8181962 PMID:9536098 PMID:9670930 More... NCBI chr20:3,951,474...3,970,376
Ensembl chr20:3,951,474...3,976,505
JBrowse link
G Cfb complement factor B ISO ClinVar Annotator: match by term: Age related macular degeneration 14 ClinVar
OMIM
PMID:2249879 PMID:6308626 PMID:8181962 PMID:16518403 PMID:16936732 More... NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505
JBrowse link
age related macular degeneration 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C9 complement C9 ISO ClinVar Annotator: match by term: Age related macular degeneration 15 ClinVar
OMIM
PMID:24036952 PMID:25741868 PMID:28492532 NCBI chr 2:55,573,094...55,621,345
Ensembl chr 2:55,572,992...55,621,338
JBrowse link
age related macular degeneration 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP binding cassette subfamily A member 4 ISO ClinVar Annotator: match by term: Age related macular degeneration 2 | ClinVar Annotator: match by term: MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: MACULOPATHY, AGE-RELATED, 2
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9054934 PMID:9295268 PMID:9466990 PMID:9490294 PMID:9503029 More... NCBI chr 2:210,164,813...210,302,069
Ensembl chr 2:210,164,813...210,302,069
JBrowse link
Age Related Macular Degeneration 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbln5 fibulin 5 ISO ClinVar Annotator: match by term: Macular degeneration, age-related, 3 | ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:15269314 PMID:16374472 PMID:16652333 PMID:17035250 PMID:19194475 More... NCBI chr 6:120,899,219...120,977,829
Ensembl chr 6:120,899,224...120,977,755
JBrowse link
age related macular degeneration 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfh complement factor H ISO
ISS
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Age related macular degeneration 4
OMIM:610698
CTD
OMIM
ClinVar
MouseDO
PMID:8072530 PMID:9536098 PMID:9811382 PMID:10577907 PMID:10762557 More... NCBI chr13:51,512,376...51,613,829
Ensembl chr13:51,511,828...51,613,838
JBrowse link
age related macular degeneration 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc6 ERCC excision repair 6, chromatin remodeling factor ISO ClinVar Annotator: match by term: Age related macular degeneration 5 ClinVar
OMIM
PMID:9443879 PMID:9536098 PMID:10196384 PMID:10767341 PMID:16754848 More... NCBI chr16:7,764,983...7,835,587
Ensembl chr16:7,765,013...7,835,587
JBrowse link
age related macular degeneration 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C3 complement C3 ISO DNA:SNPs, haplotype: :multiple RGD PMID:19899988 RGD:7401252 NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
JBrowse link
G Cfb complement factor B no_association ISO DNA:missense mutations:cds:p.L9H, p.R32L (rs4151667, rs641153) (human) RGD PMID:19899988 RGD:7401252 NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505
JBrowse link
G Dct dopachrome tautomerase ISO ClinVar Annotator: match by term: Age related macular degeneration 7 ClinVar NCBI chr15:95,062,006...95,100,863
Ensembl chr15:95,062,003...95,100,836
JBrowse link
G Htra1 HtrA serine peptidase 1 susceptibility
severity
ISO ClinVar Annotator: match by term: Age related macular degeneration 7 | ClinVar Annotator: match by term: Susceptibility to neovascular type of age-related macular degeneration
CTD Direct Evidence: marker/mechanism
DNA:polymorphisms:multiple (human)
DNA:snp:promoter:g.-497C>T (rs2672598) (human)
DNA:snps:promoter, exons:g.-497C>T, g.+108G>T/C, g.5230C>T (rs2672598, rs2293870, rs1049331) (human)
DNA:snp:intron:g.IVS1+9824G>A (rs932275) (human)
OMIM
ClinVar
CTD
RGD
PMID:16199547 PMID:17053108 PMID:17053109 PMID:17568988 PMID:18511946 More... RGD:7394722, RGD:7394721, RGD:7394719, RGD:7394713, RGD:7387295 NCBI chr 1:185,497,815...185,547,380
Ensembl chr 1:185,497,735...185,547,379
JBrowse link
G Mc1r melanocortin 1 receptor ISO ClinVar Annotator: match by term: Macular degeneration, age-related, neovascular type ClinVar NCBI chr19:51,452,448...51,455,375
Ensembl chr19:51,453,239...51,454,192
JBrowse link
age related macular degeneration 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C3 complement C3 susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Age related macular degeneration 9 | ClinVar Annotator: match by term: MACULAR DEGENERATION, AGE-RELATED, 9, SUSCEPTIBILITY TO
CTD
OMIM
ClinVar
PMID:1976733 PMID:7870343 PMID:9536098 PMID:12462331 PMID:14639503 More... NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
JBrowse link
Aland Island eye disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cabp4 calcium binding protein 4 ISO ClinVar Annotator: match by term: Ocular albinism, type II ClinVar PMID:30718709 NCBI chr 1:201,428,671...201,442,950
Ensembl chr 1:201,428,672...201,433,172
JBrowse link
G Cacna1f calcium voltage-gated channel subunit alpha1 F ISO ClinVar Annotator: match by term: Ocular albinism, type II
CTD Direct Evidence: marker/mechanism
DNA:deletion:exon:
OMIM
ClinVar
CTD
RGD
PMID:9662399 PMID:11281458 PMID:14230113 PMID:16199547 PMID:17525176 More... RGD:13782379 NCBI chr  X:14,868,096...14,896,413
Ensembl chr  X:14,868,024...14,896,413
JBrowse link
G Whrn whirlin ISO ClinVar Annotator: match by term: Ocular albinism, type II ClinVar PMID:28492532 PMID:30718709 NCBI chr 5:76,828,308...76,911,945
Ensembl chr 5:76,828,301...76,912,223
JBrowse link
Alstrom syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alms1 ALMS1, centrosome and basal body associated protein susceptibility ISO
ISS
DNA:frameshift mutations, nonsense mutations
ClinVar Annotator: match by term: ALMS1-related condition | ClinVar Annotator: match by term: Alstrom syndrome | ClinVar Annotator: match by term: Alstrom's syndrome
OMIM:203800
CTD Direct Evidence: marker/mechanism
DNA:frameshift mutations, nonsense mutations, missense mutations:multiple
DNA:nonsense mutations, frameshift mutation, missense mutation:multiple
ClinVar
MouseDO
CTD
OMIM
RGD
PMID:9063741 PMID:9409865 PMID:9536098 PMID:11941369 PMID:11941370 More... RGD:1601169, RGD:8696018, RGD:8696016, RGD:8696015, RGD:8696013 NCBI chr 4:118,125,581...118,226,005
Ensembl chr 4:118,125,607...118,226,005
JBrowse link
G Cct7 chaperonin containing TCP1 subunit 7 ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chr 4:117,989,232...118,006,478
Ensembl chr 4:117,989,232...118,006,580
JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:25741868 PMID:26884280 PMID:27102614 PMID:27577878 PMID:28492532 More... NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
JBrowse link
G Egr4 early growth response 4 ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chr 4:118,047,869...118,050,328
Ensembl chr 4:118,047,869...118,050,328
JBrowse link
G Emx1 empty spiracles homeobox 1 ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chr 4:117,725,148...117,741,616
Ensembl chr 4:117,725,155...117,741,613
JBrowse link
G Fbxo41 F-box protein 41 ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chr 4:118,007,517...118,039,547
Ensembl chr 4:118,010,978...118,039,406
JBrowse link
G Noto notochord homeobox ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chr 4:117,961,163...117,965,402
Ensembl chr 4:117,961,163...117,965,402
JBrowse link
G Pradc1 protease-associated domain containing 1 ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chr 4:117,984,732...117,989,710
Ensembl chr 4:117,984,742...117,989,886
JBrowse link
G Rab11fip5 RAB11 family interacting protein 5 ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chr 4:117,871,301...117,908,819
Ensembl chr 4:117,871,308...117,908,741
JBrowse link
G Sfxn5 sideroflexin 5 ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chr 4:117,750,213...117,869,826
Ensembl chr 4:117,752,806...117,869,794
JBrowse link
G Smyd5 SMYD family member 5 ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chr 4:117,969,615...117,984,082
Ensembl chr 4:117,969,626...117,984,347
JBrowse link
G Spr sepiapterin reductase ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chr 4:117,671,948...117,676,292
Ensembl chr 4:117,671,949...117,675,678
JBrowse link
G Tango2 transport and golgi organization 2 homolog ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr11:82,645,978...82,692,574
Ensembl chr11:82,645,974...82,692,574
JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Alstrom's syndrome ClinVar PMID:23975875 PMID:25589632 PMID:28492532 NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741
JBrowse link
Amaurosis Hypertrichosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cnnm4 cyclin and CBS domain divalent metal cation transport mediator 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:38,711,726...38,750,942
Ensembl chr 9:38,711,710...38,750,942
JBrowse link
autosomal dominant vitreoretinochoroidopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Best1 bestrophin 1 ISO ClinVar Annotator: match by term: Autosomal dominant vitreoretinochoroidopathy | ClinVar Annotator: match by term: Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 2 | ClinVar Annotator: match by term: VRCP autosomal dominant
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:10798642 PMID:10854112 PMID:11585313 PMID:12543751 More... NCBI chr 1:206,629,340...206,646,085
Ensembl chr 1:206,629,500...206,646,063
JBrowse link
G Fth1 ferritin heavy chain 1 ISO ClinVar Annotator: match by term: Autosomal dominant vitreoretinochoroidopathy | ClinVar Annotator: match by term: VRCP autosomal dominant ClinVar PMID:14615048 PMID:25741868 PMID:28492532 PMID:28687848 NCBI chr 1:206,627,142...206,629,430
Ensembl chr 1:206,627,103...206,725,424
JBrowse link
background diabetic retinopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A2m alpha-2-macroglobulin treatment ISO RGD PMID:10848441 RGD:10046010 NCBI chr 4:154,897,770...154,947,787
Ensembl chr 4:154,897,877...154,947,786
JBrowse link
G Cat catalase ISO associated withDiabetes Mellitus, Type 2; mRNA,protein:decreased expression, decreased activity:blood,l serum: RGD PMID:24092995 RGD:9068931 NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
JBrowse link
G Flt1 Fms related receptor tyrosine kinase 1 ISO protein:decreased expression:aqueous humor: RGD PMID:23853629 RGD:10402120 NCBI chr12:7,296,899...7,468,626
Ensembl chr12:7,297,292...7,468,626
JBrowse link
G Map3k8 mitogen-activated protein kinase kinase kinase 8 ISO protein:increased activity:serum: RGD PMID:28724746 RGD:151356966 NCBI chr17:53,382,908...53,403,216
Ensembl chr17:53,383,131...53,403,216
JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO protein:decreased expression:vitreous: RGD PMID:19799585 RGD:10449447 NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984
JBrowse link
basal laminar drusen term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfh complement factor H ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Basal laminar drusen | ClinVar Annotator: match by term: DRUSEN, EARLY ADULT-ONSET, GROUPED
CTD
OMIM
ClinVar
PMID:8072530 PMID:9536098 PMID:9811382 PMID:10577907 PMID:10762557 More... NCBI chr13:51,512,376...51,613,829
Ensembl chr13:51,511,828...51,613,838
JBrowse link
bestrophinopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Best1 bestrophin 1 ISO
ISS
ClinVar Annotator: match by term: Autosomal recessive bestrophinopathy
OMIM:611809
OMIM
ClinVar
MouseDO
PMID:2133066 PMID:2162627 PMID:9700209 PMID:10788642 PMID:10798642 More... NCBI chr 1:206,629,340...206,646,085
Ensembl chr 1:206,629,500...206,646,063
JBrowse link
G Crb1 crumbs cell polarity complex component 1 ISO ClinVar Annotator: match by term: Autosomal recessive bestrophinopathy ClinVar PMID:17128490 PMID:17297678 PMID:23379534 PMID:24033266 PMID:25474345 More... NCBI chr13:50,801,484...50,989,261
Ensembl chr13:50,800,959...50,989,261
JBrowse link
G Fth1 ferritin heavy chain 1 ISO ClinVar Annotator: match by term: Autosomal recessive bestrophinopathy ClinVar PMID:2133066 PMID:10788642 PMID:18985398 PMID:20927214 PMID:21273940 More... NCBI chr 1:206,627,142...206,629,430
Ensembl chr 1:206,627,103...206,725,424
JBrowse link
G Prph2 peripherin 2 ISO ClinVar Annotator: match by term: Autosomal recessive bestrophinopathy ClinVar PMID:11139241 PMID:15370544 PMID:16113362 PMID:16799052 PMID:22466463 More... NCBI chr 9:14,066,149...14,081,454
Ensembl chr 9:14,066,156...14,081,454
JBrowse link
Bietti crystalline corneoretinal dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP binding cassette subfamily A member 4 ISO ClinVar Annotator: match by term: Bietti crystalline corneoretinal dystrophy | ClinVar Annotator: match by term: Bietti tapetoretinal degeneration with marginal corneal dystrophy ClinVar PMID:9054934 PMID:10958761 PMID:23755871 PMID:24938718 PMID:25312043 More... NCBI chr 2:210,164,813...210,302,069
Ensembl chr 2:210,164,813...210,302,069
JBrowse link
G Cyp4v3 cytochrome P450, family 4, subfamily v, polypeptide 3 ISO
ISS
ClinVar Annotator: match by term: Bietti crystalline corneoretinal dystrophy | ClinVar Annotator: match by term: CYP4V2-related disorder
OMIM:210370
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:15042513 PMID:15937078 PMID:16088246 PMID:16179904 PMID:16199547 More... NCBI chr16:46,917,929...46,958,735
Ensembl chr16:46,918,401...46,943,395
JBrowse link
G Klkb1 kallikrein B1 ISO ClinVar Annotator: match by term: Bietti crystalline corneoretinal dystrophy ClinVar PMID:17962476 PMID:25741868 NCBI chr16:46,958,634...46,982,054
Ensembl chr16:46,958,707...46,982,053
JBrowse link
birdshot chorioretinopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il2 interleukin 2 ISO protein:increased expression:aqueous humor RGD PMID:21570674 RGD:5147908 NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
JBrowse link
G RT1-CE13 RT1 class I, locus CE13 ISO DNA:polymorphisms:cds:HLA-B12 (human) RGD PMID:3341436 RGD:7365121 NCBI chr20:3,314,830...3,318,106 JBrowse link
Bothnia retinal dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rlbp1 retinaldehyde binding protein 1 ISO
ISS
ClinVar Annotator: match by term: Bothnia retinal dystrophy | ClinVar Annotator: match by term: VASTERBOTTEN DYSTROPHY
OMIM:607475
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:10102298 PMID:10102299 PMID:11449319 PMID:12536144 PMID:15234312 More... NCBI chr 1:133,308,920...133,322,296
Ensembl chr 1:133,308,938...133,322,296
JBrowse link
Boucher-Neuhauser syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mcoln1 mucolipin TRP cation channel 1 ISO ClinVar Annotator: match by term: Ataxia-hypogonadism-choroidal dystrophy syndrome ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr12:1,560,341...1,574,252
Ensembl chr12:1,560,359...1,574,252
JBrowse link
G Pnpla6 patatin-like phospholipase domain containing 6 ISO ClinVar Annotator: match by term: Ataxia-hypogonadism-choroidal dystrophy syndrome | ClinVar Annotator: match by term: Chorioretinal dystrophy, spinocerebellar ataxia and hypogonadotropic hypogonadism
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:3963113 PMID:8053762 PMID:9321767 PMID:16199547 PMID:18313024 More... NCBI chr12:1,574,387...1,603,735
Ensembl chr12:1,560,363...1,603,734
JBrowse link
bradyopsia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rgs9 regulator of G-protein signaling 9 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bradyopsia
CTD
ClinVar
PMID:11262419 PMID:14702087 PMID:17826834 PMID:19818506 PMID:25741868 More... NCBI chr10:94,195,265...94,270,892
Ensembl chr10:94,197,054...94,270,892
JBrowse link
G Rgs9bp regulator of G protein signaling 9 binding protein ISO ClinVar Annotator: match by term: Bradyopsia ClinVar PMID:14702087 PMID:25741868 PMID:28492532 NCBI chr 1:88,249,438...88,250,151
Ensembl chr 1:88,249,438...88,250,151
JBrowse link
bradyopsia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rgs9 regulator of G-protein signaling 9 ISO OMIM NCBI chr10:94,195,265...94,270,892
Ensembl chr10:94,197,054...94,270,892
JBrowse link
bradyopsia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rgs9bp regulator of G protein signaling 9 binding protein ISO ClinVar Annotator: match by term: Prolonged electroretinal response suppression 2 OMIM
ClinVar
PMID:17698770 PMID:19818506 PMID:25741868 PMID:28492532 PMID:31144483 NCBI chr 1:88,249,438...88,250,151
Ensembl chr 1:88,249,438...88,250,151
JBrowse link
brain small vessel disease 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col4a1 collagen type IV alpha 1 chain ISO
ISS
ClinVar Annotator: match by term: Brain small vessel disease 1 with or without ocular anomalies | ClinVar Annotator: match by term: GOULD SYNDROME 1 | ClinVar Annotator: match by term: RETINAL ARTERIOLAR TORTUOSITY, INFANTILE HEMIPARESIS, AND LEUKOENCEPHALOPATHY, AUTOSOMAL DOMINANT
ClinVar Annotator: match by term: BRAIN SMALL VESSEL DISEASE 1 WITH OR WITHOUT OCULAR ANOMALIES | ClinVar Annotator: match by term: Brain small vessel disease 1 with or without ocular anomalies | ClinVar Annotator: match by term: Brain small vessel disease with hemorrhage
OMIM:175780
ClinVar
OMIM
MouseDO
PMID:906807 PMID:2211826 PMID:3691802 PMID:6428250 PMID:7257746 More... NCBI chr16:78,183,533...78,294,412
Ensembl chr16:78,183,533...78,294,412
JBrowse link
G Col4a2 collagen type IV alpha 2 chain ISO ClinVar Annotator: match by term: Brain small vessel disease with hemorrhage ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr16:78,047,591...78,183,360
Ensembl chr16:78,047,602...78,183,839
JBrowse link
G Kat6b lysine acetyltransferase 6B ISO ClinVar Annotator: match by term: Brain small vessel disease with hemorrhage ClinVar PMID:25741868 NCBI chr15:2,638,885...2,811,977
Ensembl chr15:2,639,200...2,812,316
JBrowse link
central retinal vein occlusion term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Proc protein C, inactivator of coagulation factors Va and VIIIa treatment ISO RGD PMID:20688738 RGD:11100028 NCBI chr18:23,764,367...23,774,816
Ensembl chr18:23,764,368...23,775,133
JBrowse link
G Serpinf1 serpin family F member 1 IEP protein:increased expression:neuroretina (rat) RGD PMID:21487926 RGD:5490120 NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646
JBrowse link
Central Serous Chorioretinopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Serpine1 serpin family E member 1 ISO protein:increased expression:plasma (human)
protein:increased expression:serum (human)
RGD PMID:10218712 PMID:24446892 RGD:8547738, RGD:8547804 NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
JBrowse link
Cerebroretinal Microangiopathy with Calcifications and Cysts term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctc1 CST telomere replication complex component 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Coats plus syndrome
CTD
ClinVar
PMID:22267198 PMID:22387016 PMID:23220793 PMID:23869908 PMID:24033266 More... NCBI chr10:53,714,614...53,735,298
Ensembl chr10:53,714,644...53,735,298
JBrowse link
G Stn1 STN1 subunit of CST complex ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:246,391,311...246,429,844
Ensembl chr 1:246,395,613...246,429,531
JBrowse link
Cerebroretinal Microangiopathy with Calcifications and Cysts 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctc1 CST telomere replication complex component 1 ISO ClinVar Annotator: match by term: CTC1-related condition | ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1 OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:16943371 PMID:17576681 PMID:18076099 More... NCBI chr10:53,714,614...53,735,298
Ensembl chr10:53,714,644...53,735,298
JBrowse link
G Pfas phosphoribosylformylglycinamidine synthase ISO ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1 ClinVar PMID:22267198 PMID:22387016 PMID:24115768 PMID:25741868 PMID:28492532 More... NCBI chr10:53,690,301...53,711,811
Ensembl chr10:53,691,626...53,708,420
JBrowse link
Cerebroretinal Microangiopathy with Calcifications and Cysts 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stn1 STN1 subunit of CST complex ISO ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 2 OMIM
ClinVar
PMID:25741868 PMID:27432940 PMID:28492532 NCBI chr 1:246,391,311...246,429,844
Ensembl chr 1:246,395,613...246,429,531
JBrowse link
Cerebroretinal Microangiopathy with Calcifications and Cysts 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pot1 protection of telomeres 1 ISO ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 3 ClinVar
OMIM
PMID:27013236 PMID:28492532 NCBI chr 4:54,205,330...54,263,137
Ensembl chr 4:54,205,332...54,263,042
JBrowse link
chorioretinitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col2a1 collagen type II alpha 1 chain ISO associated with Toxoplasmosis, Congenital;DNA:snp:intron:IVS2-218 (rs1793958) (human) RGD PMID:18523590 RGD:8657355 NCBI chr 7:129,098,489...129,127,560
Ensembl chr 7:129,098,786...129,127,546
JBrowse link
Choroideremia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chm CHM Rab escort protein ISO
ISS
CTD Direct Evidence: marker/mechanism
OMIM:303100
ClinVar Annotator: match by term: CHM-related condition | ClinVar Annotator: match by term: Choroideremia | ClinVar Annotator: match by term: Choroideremia, Salla type
OMIM
CTD
MouseDO
ClinVar
PMID:1044764 PMID:1302003 PMID:1598901 PMID:7981670 PMID:8477262 More... NCBI chr  X:78,203,200...78,361,996
Ensembl chr  X:78,203,204...78,361,943
JBrowse link
G Prph2 peripherin 2 ISO ClinVar Annotator: match by term: Progressive tapetochoroidal dystrophy ClinVar PMID:9536098 PMID:11139241 PMID:11704030 PMID:16113362 PMID:16799052 More... NCBI chr 9:14,066,149...14,081,454
Ensembl chr 9:14,066,156...14,081,454
JBrowse link
chromosome 13q14 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acod1 aconitate decarboxylase 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:79,871,819...79,881,101
Ensembl chr15:79,871,827...79,880,529
JBrowse link
G Alg11 ALG11, alpha-1,2-mannosyltransferase ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr16:69,940,540...69,951,617
Ensembl chr16:69,944,349...69,951,601
JBrowse link
G Arl11 ADP-ribosylation factor like GTPase 11 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:35,483,330...35,485,579
Ensembl chr15:35,480,018...35,496,596
JBrowse link
G Atp7b ATPase copper transporting beta ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr16:69,952,286...70,024,404
Ensembl chr16:69,951,778...70,023,636
JBrowse link
G Bora bora, aurora kinase A activator ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:75,797,624...75,835,599
Ensembl chr15:75,797,891...75,821,322
JBrowse link
G C15h13orf42 similar to human chromosome 13 open reading frame 42 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:36,674,840...36,701,304
Ensembl chr15:36,677,527...36,701,211
JBrowse link
G Cab39l calcium binding protein 39-like ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:33,606,588...33,710,518
Ensembl chr15:33,606,694...33,743,545
JBrowse link
G Ccdc70 coiled-coil domain containing 70 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr16:70,037,309...70,042,401
Ensembl chr16:70,037,309...70,042,339
JBrowse link
G Cdadc1 cytidine and dCMP deaminase domain containing 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:33,726,590...33,755,611
Ensembl chr15:33,723,435...33,755,576
JBrowse link
G Ckap2 cytoskeleton associated protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr16:69,839,668...69,864,852
Ensembl chr16:69,839,630...69,864,913
JBrowse link
G Cln5 CLN5, intracellular trafficking protein ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:79,893,573...79,903,438
Ensembl chr15:79,893,548...79,903,438
JBrowse link
G Cnmd chondromodulin ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:55,041,548...55,066,297
Ensembl chr15:55,041,561...55,066,297
JBrowse link
G Commd6 COMM domain containing 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:78,467,333...78,474,382
Ensembl chr15:78,467,804...78,474,382
JBrowse link
G Cysltr2 cysteinyl leukotriene receptor 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:48,189,476...48,228,750
Ensembl chr15:48,189,073...48,304,136
JBrowse link
G Dach1 dachshund family transcription factor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:74,528,122...74,909,811
Ensembl chr15:74,529,208...74,909,922
JBrowse link
G Diaph3 diaphanous-related formin 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:62,543,375...63,013,060
Ensembl chr15:62,543,375...63,012,975
JBrowse link
G Dis3 DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:75,820,040...75,850,450
Ensembl chr15:75,823,436...75,850,642
JBrowse link
G Dleu7 deleted in lymphocytic leukemia, 7 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:36,479,533...36,495,730
Ensembl chr15:36,479,534...36,495,697
JBrowse link
G Ebpl EBP like ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:35,508,074...35,531,472
Ensembl chr15:35,508,074...35,531,472
JBrowse link
G Ednrb endothelin receptor type B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:80,640,839...80,672,115
Ensembl chr15:80,643,043...80,672,115
JBrowse link
G Fam124a family with sequence similarity 124 member A ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:36,799,836...36,855,062
Ensembl chr15:36,799,877...36,853,683
JBrowse link
G Fbxl3 F-box and leucine-rich repeat protein 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:79,906,795...79,926,678
Ensembl chr15:79,906,795...79,927,867
JBrowse link
G Fndc3a fibronectin type III domain containing 3a ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:47,689,909...47,867,354
Ensembl chr15:47,689,919...47,866,784
JBrowse link
G Ints6 integrator complex subunit 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:36,908,966...37,048,043
Ensembl chr15:36,933,724...37,021,527
JBrowse link
G Itm2b integral membrane protein 2B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:48,545,998...48,568,904
Ensembl chr15:48,546,001...48,568,917
JBrowse link
G Kcnrg potassium channel regulator ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:35,774,456...35,779,409
Ensembl chr15:35,774,326...35,779,415
JBrowse link
G Kctd12 potassium channel tetramerization domain containing 12 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:79,800,078...79,806,017
Ensembl chr15:79,801,191...79,806,282
JBrowse link
G Klf12 KLF transcription factor 12 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:76,628,778...77,062,000
Ensembl chr15:76,637,654...77,062,056
JBrowse link
G Klf5 KLF transcription factor 5 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:76,060,320...76,079,445
Ensembl chr15:76,064,258...76,079,445
JBrowse link
G Klhl1 kelch-like family member 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:72,698,191...73,142,726
Ensembl chr15:72,699,094...73,142,594
JBrowse link
G Kpna3 karyopherin subunit alpha 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:35,536,310...35,610,066
Ensembl chr15:35,536,316...35,610,419
JBrowse link
G Lmo7 LIM domain 7 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:78,566,999...78,769,833
Ensembl chr15:78,567,023...78,769,783
JBrowse link
G Lpar6 lysophosphatidic acid receptor 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:48,416,548...48,418,357
Ensembl chr15:48,416,544...48,422,331
JBrowse link
G Med4 mediator complex subunit 4 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:48,696,542...48,706,818
Ensembl chr15:48,696,511...48,706,820
JBrowse link
G Mycbp2 MYC binding protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:79,937,354...80,175,432
Ensembl chr15:79,937,354...80,175,498
JBrowse link
G Mzt1 mitotic spindle organizing protein 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:75,787,281...75,797,589
Ensembl chr15:75,786,994...75,797,589
JBrowse link
G Ndfip2 Nedd4 family interacting protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:82,032,366...82,087,043
Ensembl chr15:82,032,366...82,086,317
JBrowse link
G Nek3 NIMA-related kinase 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr16:69,867,020...69,892,477
Ensembl chr16:69,867,047...69,892,508
JBrowse link
G Nek5 NIMA-related kinase 5 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr16:69,895,414...69,938,668
Ensembl chr16:69,895,422...69,939,429
JBrowse link
G Nudt15 nudix hydrolase 15 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:48,707,776...48,713,847
Ensembl chr15:48,709,700...48,747,363
JBrowse link
G Obi1 ORC ubiquitin ligase 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:81,269,413...81,308,734
Ensembl chr15:81,269,416...81,308,734
JBrowse link
G Olfm4 olfactomedin 4 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:55,385,100...55,429,687
Ensembl chr15:55,407,148...55,429,681
JBrowse link
G Pcdh17 protocadherin 17 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:60,222,088...60,316,172
Ensembl chr15:60,222,004...60,313,999
JBrowse link
G Pcdh20 protocadherin 20 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:64,425,534...64,431,790
Ensembl chr15:64,425,534...64,431,790
JBrowse link
G Pcdh8 protocadherin 8 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:55,198,470...55,203,039
Ensembl chr15:55,198,459...55,205,872
JBrowse link
G Pcdh9 protocadherin 9 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:69,340,108...70,237,531
Ensembl chr15:69,340,645...70,237,538
JBrowse link
G Phf11 PHD finger protein 11 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:33,390,290...33,414,647
Ensembl chr15:33,390,292...33,413,009
JBrowse link
G Pibf1 progesterone immunomodulatory binding factor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:75,850,389...76,019,711
Ensembl chr15:75,850,624...76,019,712
JBrowse link
G Pou4f1 POU class 4 homeobox 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:81,253,714...81,260,057
Ensembl chr15:81,257,781...81,259,728
JBrowse link
G Prr20e proline rich 20E ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 4:121,566,632...121,574,734
Ensembl chr 4:121,571,797...121,573,140
JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302
JBrowse link
G Rbm26 RNA binding motif protein 26 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:81,884,783...81,964,245
Ensembl chr15:81,887,219...81,964,118
JBrowse link
G Rcbtb1 RCC1 and BTB domain containing protein 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:33,319,586...33,362,421
Ensembl chr15:33,319,586...33,365,302
JBrowse link
G Rcbtb2 RCC1 and BTB domain containing protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:48,319,809...48,364,441
Ensembl chr15:48,323,866...48,383,750
JBrowse link
G Rnaseh2b ribonuclease H2, subunit B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:36,541,200...36,592,016
Ensembl chr15:36,541,218...36,584,118
JBrowse link
G Scel sciellin ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:80,339,661...80,456,546
Ensembl chr15:80,339,951...80,456,372
JBrowse link
G Serpine3 serpin family E member 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:36,908,816...36,931,825
Ensembl chr15:36,907,131...36,933,150
JBrowse link
G Setdb2 SET domain bifurcated histone lysine methyltransferase 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:33,553,657...33,606,586
Ensembl chr15:33,453,952...33,606,470
JBrowse link
G Slain1 SLAIN motif family, member 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:80,482,818...80,542,461
Ensembl chr15:80,482,367...80,542,350
JBrowse link
G Slitrk1 SLIT and NTRK-like family, member 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:85,723,252...85,727,290
Ensembl chr15:85,724,475...85,727,509
JBrowse link
G Slitrk6 SLIT and NTRK-like family, member 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:87,563,506...87,570,125
Ensembl chr15:87,563,322...87,570,393
JBrowse link
G Spry2 sprouty RTK signaling antagonist 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:82,692,291...82,697,408
Ensembl chr15:82,692,143...82,698,009
JBrowse link
G Spryd7 SPRY domain containing 7 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:35,707,185...35,727,704
Ensembl chr15:35,707,060...35,727,509
JBrowse link
G Sucla2 succinate-CoA ligase ADP-forming subunit beta ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:48,752,356...48,805,495
Ensembl chr15:48,752,312...48,805,138
JBrowse link
G Sugt1 SGT1 homolog, MIS12 kinetochore complex assembly cochaperone ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:54,991,419...55,032,244
Ensembl chr15:54,990,672...55,069,150
JBrowse link
G Tbc1d4 TBC1 domain family, member 4 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:78,256,030...78,434,168
Ensembl chr15:78,257,121...78,434,265
JBrowse link
G Tdrd3 tudor domain containing 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:63,340,531...63,497,208
Ensembl chr15:63,341,235...63,476,110
JBrowse link
G Thsd1 thrombospondin type 1 domain containing 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr16:69,771,408...69,804,844
Ensembl chr16:69,771,408...69,801,504
JBrowse link
G Trim13 tripartite motif-containing 13 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:35,733,548...35,772,676
Ensembl chr15:35,734,107...35,772,677
JBrowse link
G Uchl3 ubiquitin C-terminal hydrolase L3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:78,485,304...78,527,355
Ensembl chr15:78,485,315...78,527,355
Ensembl chr 3:78,485,315...78,527,355
JBrowse link
G Vps36 vacuolar protein sorting 36 homolog ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr16:69,810,404...69,834,789
Ensembl chr16:69,808,193...69,834,810
JBrowse link
G Wdfy2 WD repeat and FYVE domain containing 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:37,083,842...37,209,559
Ensembl chr15:37,042,987...37,209,304
JBrowse link
Chromosome 16q12 Duplication Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aars1 alanyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:38,999,130...39,021,152
Ensembl chr19:38,999,163...39,021,147
JBrowse link
G Acd ACD, shelterin complex subunit and telomerase recruitment factor ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:33,586,739...33,589,481
Ensembl chr19:33,586,745...33,589,461
JBrowse link
G Adcy7 adenylate cyclase 7 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:18,740,875...18,798,924
Ensembl chr19:18,740,875...18,776,311
JBrowse link
G Adgrg1 adhesion G protein-coupled receptor G1 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:10,003,963...10,041,122
Ensembl chr19:10,003,975...10,041,108
JBrowse link
G Adgrg3 adhesion G protein-coupled receptor G3 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:9,972,425...10,001,118
Ensembl chr19:9,972,430...10,001,123
JBrowse link
G Adgrg5 adhesion G protein-coupled receptor G5 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:10,074,787...10,098,640
Ensembl chr19:10,079,375...10,097,214
JBrowse link
G Agrp agouti related neuropeptide ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:33,447,992...33,481,602
Ensembl chr19:33,447,992...33,449,584
JBrowse link
G Aktip AKT interacting protein ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:15,866,811...15,877,123
Ensembl chr19:15,866,928...15,886,663
JBrowse link
G Amfr autocrine motility factor receptor ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:10,996,705...11,032,260
Ensembl chr19:10,996,099...11,032,247
JBrowse link
G Arl2bp ADP-ribosylation factor like GTPase 2 binding protein ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:10,336,921...10,346,555
Ensembl chr19:10,336,921...10,346,564
JBrowse link
G Atp6v0d1 ATPase H+ transporting V0 subunit D1 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:33,403,352...33,447,357
Ensembl chr19:33,403,355...33,447,450
JBrowse link
G B3gnt9 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 9 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:33,129,740...33,134,048
Ensembl chr19:33,128,142...33,132,344
JBrowse link
G Bbs2 Bardet-Biedl syndrome 2 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:10,909,653...10,944,998
Ensembl chr19:10,909,619...10,944,993
JBrowse link
G Bean1 brain expressed, associated with NEDD4, 1 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:739,551...786,395
Ensembl chr19:739,551...787,537
JBrowse link
G Brd7 bromodomain containing 7 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:18,708,792...18,737,497
Ensembl chr19:18,709,022...18,737,494
JBrowse link
G C19h16orf78 similar to human chromosome 16 open reading frame 78 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:19,484,248...19,509,632
Ensembl chr19:19,483,882...19,509,469
JBrowse link
G C19h16orf86 similar to human chromosome 16 open reading frame 86 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:33,596,591...33,598,703
Ensembl chr19:33,595,995...33,598,521
JBrowse link
G Capns2 calpain, small subunit 2 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:14,104,334...14,105,276 JBrowse link
G Car7 carbonic anhydrase 7 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:429,063...438,478
Ensembl chr19:429,075...438,467
JBrowse link
G Carmil2 capping protein regulator and myosin 1 linker 2 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:33,571,255...33,586,783
Ensembl chr19:33,574,257...33,586,965
JBrowse link
G Cbfb core-binding factor subunit beta ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:33,049,162...33,092,752
Ensembl chr19:33,049,172...33,092,751
JBrowse link
G Cbln1 cerebellin 1 precursor ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:19,608,763...19,612,572
Ensembl chr19:19,608,716...19,612,572
JBrowse link
G Ccdc102a coiled-coil domain containing 102A ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:10,102,543...10,118,657
Ensembl chr19:10,103,361...10,118,657
JBrowse link
G Ccdc113 coiled-coil domain containing 113 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:9,497,000...9,516,917
Ensembl chr19:9,496,886...9,516,923
JBrowse link
G Ccl17 C-C motif chemokine ligand 17 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:10,202,128...10,203,903
Ensembl chr19:10,202,128...10,203,819
JBrowse link
G Ccl22 C-C motif chemokine ligand 22 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:10,257,602...10,264,373
Ensembl chr19:10,257,601...10,264,400
JBrowse link
G Cdh1 cadherin 1 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:34,492,371...34,561,775
Ensembl chr19:34,492,371...34,561,775
JBrowse link
G Cdh11 cadherin 11 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:2,148,447...2,305,754
Ensembl chr19:2,148,458...2,304,272
JBrowse link
G Cdh16 cadherin 16 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:360,824...371,008
Ensembl chr19:360,824...371,007
JBrowse link
G Cdh3 cadherin 3 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:34,393,596...34,444,084
Ensembl chr19:34,393,727...34,444,084
JBrowse link
G Cdh5 cadherin 5 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:815,415...854,478
Ensembl chr19:815,411...854,368
JBrowse link
G Cdh8 cadherin 8 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:5,494,038...5,901,810
Ensembl chr19:5,494,174...5,895,669
JBrowse link
G Cenpt centromere protein T ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:33,734,684...33,741,159
Ensembl chr19:33,734,685...33,741,142
JBrowse link
G Ces1d carboxylesterase 1D ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:13,873,490...13,912,035
Ensembl chr19:13,796,623...13,912,035
JBrowse link
G Ces2h carboxylesterase 2H ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:32,974,242...32,988,842
Ensembl chr19:32,974,242...32,988,830
JBrowse link
G Ces3a carboxylesterase 3a ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:32,992,386...33,000,562 JBrowse link
G Ces4a carboxylesterase 4A ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:33,011,731...33,030,119
Ensembl chr19:33,011,731...33,029,545
JBrowse link
G Ces5a carboxylesterase 5A ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:11,469,431...11,499,007
Ensembl chr19:11,469,469...11,499,006
JBrowse link
G Cfap20 cilia and flagella associated protein 20 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:9,608,867...9,622,558
Ensembl chr19:9,608,859...9,622,558
JBrowse link
G Chd9 chromodomain helicase DNA binding protein 9 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:15,941,535...16,146,220
Ensembl chr19:15,942,687...16,164,556
JBrowse link
G Chtf8 chromosome transmission fidelity factor 8 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:34,782,005...34,792,306
Ensembl chr19:34,781,856...34,792,578
JBrowse link
G Ciao2b cytosolic iron-sulfur assembly component 2B ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:344,194...346,068
Ensembl chr19:344,203...346,068
JBrowse link
G Ciapin1 cytokine induced apoptosis inhibitor 1 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:10,179,963...10,195,511
Ensembl chr19:10,180,100...10,195,503
JBrowse link
G Cklf chemokine-like factor ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:698,097...706,570
Ensembl chr19:698,033...706,570
JBrowse link
G Clec18a C-type lectin domain family 18, member A ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:39,038,498...39,053,425
Ensembl chr19:39,038,273...39,056,017
JBrowse link
G Cmtm1 CKLF-like MARVEL transmembrane domain containing 1 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:651,641...661,184
Ensembl chr19:651,644...661,184
JBrowse link
G Cmtm2b CKLF-like MARVEL transmembrane domain containing 2B ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:640,838...651,872
Ensembl chr19:640,824...651,939
JBrowse link
G Cmtm3 CKLF-like MARVEL transmembrane domain containing 3 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:622,563...630,721
Ensembl chr19:604,458...629,790
JBrowse link
G Cmtm4 CKLF-like MARVEL transmembrane domain containing 4 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:576,203...616,109
Ensembl chr19:576,203...616,109
JBrowse link
G Cnep1r1 CTD nuclear envelope phosphatase 1 regulatory subunit 1 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:18,932,631...18,947,667
Ensembl chr19:18,932,682...18,947,667
JBrowse link
G Cngb1 cyclic nucleotide gated channel subunit beta 1 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:9,726,595...9,791,111
Ensembl chr19:9,726,595...9,791,173
JBrowse link
G Cnot1 CCR4-NOT transcription complex, subunit 1 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:9,255,190...9,346,574
Ensembl chr19:9,255,194...9,346,574
JBrowse link
G Cog4 component of oligomeric golgi complex 4 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:38,820,478...38,854,803
Ensembl chr19:38,820,501...38,854,796
JBrowse link
G Cog8 component of oligomeric golgi complex 8 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:34,951,625...34,962,377
Ensembl chr19:34,951,627...34,962,397
JBrowse link
G Coq9 coenzyme Q9 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:10,166,948...10,179,976
Ensembl chr19:10,166,951...10,179,949
JBrowse link
G Cpne2 copine 2 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:10,434,277...10,472,146
Ensembl chr19:10,434,277...10,471,820
JBrowse link
G Crnde colorectal neoplasia differentially expressed ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:33891002 NCBI chr19:14,643,887...14,653,880 JBrowse link
G Csnk2a2 casein kinase 2 alpha 2 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:9,556,443...9,596,080
Ensembl chr19:9,556,260...9,596,080
JBrowse link
G Ctcf CCCTC-binding factor ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:33,521,726...33,571,124
Ensembl chr19:33,529,319...33,571,123
JBrowse link
G Ctrl chymotrypsin-like ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:33,827,279...33,829,129
Ensembl chr19:33,827,229...33,833,626
JBrowse link
G Cx3cl1 C-X3-C motif chemokine ligand 1 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:10,227,337...10,237,826
Ensembl chr19:10,227,340...10,236,833
JBrowse link
G Cyb5b cytochrome b5 type B ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:35,062,871...35,096,741
Ensembl chr19:35,062,813...35,098,249
JBrowse link
G Cyld CYLD lysine 63 deubiquitinase ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:18,310,632...18,373,696
Ensembl chr19:18,314,019...18,373,658
JBrowse link
G Ddx19a DEAD-box helicase 19A ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:38,942,497...38,962,853
Ensembl chr19:38,942,496...38,962,854
JBrowse link
G Ddx19b DEAD-box helicase 19B ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:38,968,215...38,998,907
Ensembl chr19:38,968,215...38,997,259
JBrowse link
G Ddx28 DEAD-box helicase 28 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:33,909,799...33,911,729
Ensembl chr19:33,909,801...33,911,742
JBrowse link
G Dok4 docking protein 4 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:10,146,520...10,157,187
Ensembl chr19:10,146,474...10,158,203
JBrowse link
G Dpep2 dipeptidase 2 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:33,883,557...33,896,487
Ensembl chr19:33,885,478...33,891,954
JBrowse link
G Dpep3 dipeptidase 3 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:33,868,229...33,876,609
Ensembl chr19:33,868,242...33,873,896
JBrowse link
G Drc7 dynein regulatory complex subunit 7 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:9,943,452...9,961,266
Ensembl chr19:9,943,456...9,961,163
JBrowse link
G Dus2 dihydrouridine synthase 2 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:33,906,517...33,954,922
Ensembl chr19:33,911,750...33,954,709
JBrowse link
G Dync1li2 dynein, cytoplasmic 1 light intermediate chain 2 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:531,783...554,670
Ensembl chr19:531,812...554,670
JBrowse link
G E2f4 E2F transcription factor 4 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:33,174,396...33,181,806
Ensembl chr19:33,174,410...33,181,806
JBrowse link
G Edc4 enhancer of mRNA decapping 4 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:33,774,062...33,786,054
Ensembl chr19:33,774,055...33,787,758
JBrowse link
G Elmo3 engulfment and cell motility 3 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:33,181,952...33,186,399
Ensembl chr19:33,182,036...33,186,410
JBrowse link
G Enkd1 enkurin domain containing 1 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:33,592,074...33,596,552
Ensembl chr19:33,592,078...33,596,545
JBrowse link
G Esrp2 epithelial splicing regulatory protein 2 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:34,034,559...34,041,726
Ensembl chr19:34,034,559...34,041,726
JBrowse link
G Exoc3l1 exocyst complex component 3-like 1 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:33,166,836...33,174,371
Ensembl chr19:33,166,837...33,172,486
JBrowse link
G Exosc6 exosome component 6 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:39,022,171...39,023,585
Ensembl chr19:39,022,183...39,023,515
JBrowse link
G Fbxl8 F-box and leucine-rich repeat protein 8 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:33,142,705...33,147,266
Ensembl chr19:33,142,715...33,147,262
JBrowse link
G Fcsk fucose kinase ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:38,849,130...38,874,497
Ensembl chr19:38,854,762...38,874,418
JBrowse link
G Fhod1 formin homology 2 domain containing 1 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:33,206,492...33,225,448
Ensembl chr19:33,206,492...33,225,356
JBrowse link
G Fto FTO, alpha-ketoglutarate dependent dioxygenase ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:15,284,898...15,692,142
Ensembl chr19:15,349,696...15,692,083
JBrowse link
G Gfod2 Gfo/Idh/MocA-like oxidoreductase domain containing 2 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:33,599,689...33,647,060
Ensembl chr19:33,604,187...33,647,004
JBrowse link
G Gins3 GINS complex subunit 3 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:9,420,085...9,428,621
Ensembl chr19:9,420,086...9,428,687
JBrowse link
G Gnao1 G protein subunit alpha o1 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:11,034,874...11,192,531
Ensembl chr19:11,035,956...11,192,493
JBrowse link
G Got2 glutamic-oxaloacetic transaminase 2 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:9,174,304...9,199,995
Ensembl chr19:9,174,311...9,199,994
JBrowse link
G Has3 hyaluronan synthase 3 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:34,768,421...34,782,170
Ensembl chr19:34,771,982...34,782,592
JBrowse link
G Heatr3 HEAT repeat containing 3 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:18,892,477...18,930,502
Ensembl chr19:18,893,144...18,930,509
JBrowse link
G Herpud1 homocysteine inducible ER protein with ubiquitin like domain 1 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:10,598,411...10,609,002
Ensembl chr19:10,598,417...10,618,424
JBrowse link
G Hsd11b2 hydroxysteroid 11-beta dehydrogenase 2 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:33,397,656...33,402,899
Ensembl chr19:33,397,656...33,402,899
JBrowse link
G Hsf4 heat shock transcription factor 4 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:33,147,755...33,153,479
Ensembl chr19:33,147,755...33,153,479
JBrowse link
G Il34 interleukin 34 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:38,714,990...38,782,749
Ensembl chr19:38,714,991...38,764,000
JBrowse link
G Irx3 iroquois homeobox 3 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:15,211,882...15,215,317
Ensembl chr19:15,211,878...15,215,317
JBrowse link
G Irx5 iroquois homeobox 5 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 PMID:33891002 NCBI chr19:14,639,052...14,643,911
Ensembl chr19:14,624,225...14,642,318
JBrowse link
G Irx6 iroquois homeobox 6 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 PMID:33891002 NCBI chr19:14,330,440...14,336,403
Ensembl chr19:14,330,440...14,336,403
JBrowse link
G Katnb1 katanin regulatory subunit B1 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:9,921,216...9,940,853
Ensembl chr19:9,921,219...9,940,650
JBrowse link
G Kctd19 potassium channel tetramerization domain containing 19 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:33,259,869...33,292,011
Ensembl chr19:33,259,970...33,292,006
JBrowse link
G Kifc3 kinesin family member C3 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:9,825,114...9,920,371
Ensembl chr19:9,886,693...9,920,451
JBrowse link
G Lcat lecithin cholesterol acyltransferase ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:33,834,748...33,838,214
Ensembl chr19:33,834,403...33,838,231
JBrowse link
G Lpcat2 lysophosphatidylcholine acyltransferase 2 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 PMID:33891002 NCBI chr19:14,088,389...14,152,742
Ensembl chr19:14,089,686...14,152,829
JBrowse link
G Lrrc29 leucine rich repeat containing 29 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:33,181,713...33,203,583
Ensembl chr19:33,188,352...33,203,545
JBrowse link
G Lrrc36 leucine rich repeat containing 36 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:33,292,074...33,342,426
Ensembl chr19:33,292,074...33,360,141
JBrowse link
G Matcap1 microtubule associated tyrosine carboxypeptidase 1 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:33,158,053...33,166,784
Ensembl chr19:33,158,056...33,166,445
JBrowse link
G Mir138-2 microRNA 138-2 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:10,674,193...10,674,274
Ensembl chr19:10,674,193...10,674,274
JBrowse link
G Mir140 microRNA 140 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:35,465,577...35,465,675
Ensembl chr19:35,465,577...35,465,675
JBrowse link
G Mir328 microRNA 328 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:33,184,766...33,184,849
Ensembl chr19:33,184,766...33,184,849
JBrowse link
G Mmp15 matrix metallopeptidase 15 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:9,663,449...9,684,943
Ensembl chr19:9,663,449...9,684,943
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 PMID:33891002 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
JBrowse link
G Mt1 metallothionein 1 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:10,826,032...10,827,048
Ensembl chr19:10,826,032...10,827,049
Ensembl chr17:10,826,032...10,827,049
JBrowse link
G Mt1-ps3 metallothionein 1, pseudogene 3 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr17:74,786,652...74,787,040
Ensembl chr17:74,786,654...74,787,135
JBrowse link
G Mt2A metallothionein 2A ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:10,832,009...10,832,783
Ensembl chr19:10,832,002...10,832,784
JBrowse link
G Mt3 metallothionein 3 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:10,848,754...10,850,158
Ensembl chr19:10,848,755...10,850,158
JBrowse link
G Mt4 metallothionein 4 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:10,863,813...10,865,909
Ensembl chr19:10,863,813...10,865,909
JBrowse link
G Mtss2 MTSS I-BAR domain containing 2 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:38,692,793...38,714,575
Ensembl chr19:38,693,194...38,713,507
JBrowse link
G Nae1 NEDD8 activating enzyme E1 subunit 1 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:446,015...472,145
Ensembl chr19:446,000...472,371
JBrowse link
G Ndrg4 NDRG family member 4 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:9,351,408...9,387,398
Ensembl chr19:9,351,404...9,386,914
JBrowse link
G Nfat5 nuclear factor of activated T-cells 5 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:35,199,737...35,286,675
Ensembl chr19:35,199,016...35,286,675
JBrowse link
G Nfatc3 nuclear factor of activated T-cells 3 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:33,960,643...34,035,150
Ensembl chr19:33,960,852...34,035,150
JBrowse link
G Nip7 nucleolar pre-rRNA processing protein NIP7 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:34,962,557...34,964,700
Ensembl chr19:34,962,557...34,964,711
JBrowse link
G Nkd1 NKD inhibitor of WNT signaling pathway 1 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:18,476,344...18,549,380
Ensembl chr19:18,476,344...18,549,380
JBrowse link
G Nlrc5 NLR family, CARD domain containing 5 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:10,477,638...10,581,023
Ensembl chr19:10,477,628...10,562,121
JBrowse link
G Nob1 NIN1 (RPN12) binding protein 1 homolog ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:35,322,803...35,335,354
Ensembl chr19:35,322,669...35,346,815
JBrowse link
G Nod2 nucleotide-binding oligomerization domain containing 2 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:18,382,369...18,422,817
Ensembl chr19:18,382,439...18,417,177
JBrowse link
G Nol3 nucleolar protein 3 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:33,154,061...33,158,250
Ensembl chr19:33,154,062...33,158,250
JBrowse link
G Nqo1 NAD(P)H quinone dehydrogenase 1 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:35,295,633...35,310,528
Ensembl chr19:35,295,573...35,310,557
JBrowse link
G Nrn1l neuritin 1-like ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:33,786,419...33,787,879 JBrowse link
G Nudt21 nudix hydrolase 21 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:10,974,800...10,993,841
Ensembl chr19:10,974,241...10,991,682
JBrowse link
G Nup93 nucleoporin 93 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:10,684,214...10,788,009
Ensembl chr19:10,682,075...10,788,026
JBrowse link
G Nutf2 nuclear transport factor 2 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:33,752,319...33,773,595
Ensembl chr19:33,752,291...33,773,591
JBrowse link
G Ogfod1 2-oxoglutarate and iron-dependent oxygenase domain containing 1 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:10,945,031...10,974,602
Ensembl chr19:10,946,018...10,975,119
JBrowse link
G Pard6a par-6 family cell polarity regulator alpha ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:33,589,531...33,591,900
Ensembl chr19:33,589,542...33,591,900
JBrowse link
G Pdf peptide deformylase (mitochondrial) ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:34,949,408...34,951,621
Ensembl chr19:34,948,256...34,951,515
JBrowse link
G Pdp2 pyruvate dehydrogenase phosphatase catalytic subunit 2 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:386,408...394,068
Ensembl chr19:386,406...394,074
JBrowse link
G Pdpr pyruvate dehydrogenase phosphatase regulatory subunit ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:39,065,226...39,109,695
Ensembl chr19:39,065,157...39,109,688
JBrowse link
G Phaf1 phagosome assembly factor 1 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:33,101,453...33,138,920
Ensembl chr19:33,101,490...33,138,914
JBrowse link
G Pla2g15 phospholipase A2, group XV ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:34,050,685...34,068,070
Ensembl chr19:34,050,694...34,068,063
JBrowse link
G Plekhg4 pleckstrin homology and RhoGEF domain containing G4 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:33,251,788...33,266,490
Ensembl chr19:33,249,706...33,266,357
JBrowse link
G Pllp plasmolipin ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:10,315,104...10,335,892
Ensembl chr19:10,315,104...10,335,892
JBrowse link
G Polr2c RNA polymerase II subunit C ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:10,158,153...10,164,935
Ensembl chr19:10,157,823...10,164,945
JBrowse link
G Prmt7 protein arginine methyltransferase 7 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:34,110,724...34,161,531
Ensembl chr19:34,110,747...34,162,577
JBrowse link
G Prss54 serine protease 54 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:9,479,995...9,496,838
Ensembl chr19:9,479,995...9,496,835
JBrowse link
G Pskh1 protein serine kinase H1 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:33,794,919...33,827,040
Ensembl chr19:33,794,935...33,827,032
JBrowse link
G Psmb10 proteasome 20S subunit beta 10 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:33,830,958...33,833,442
Ensembl chr19:33,827,229...33,833,626
JBrowse link
G Psme3ip1 proteasome activator subunit 3 interacting protein 1 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:10,401,400...10,430,059
Ensembl chr19:10,401,532...10,429,987
JBrowse link
G Ranbp10 RAN binding protein 10 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:33,656,046...33,716,864
Ensembl chr19:33,656,046...33,717,033
JBrowse link
G Rbl2 RB transcriptional corepressor like 2 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:15,876,852...15,923,632
Ensembl chr19:15,876,853...15,923,572
JBrowse link
G Ripor1 RHO family interacting cell polarization regulator 1 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:33,477,750...33,506,424
Ensembl chr19:33,477,793...33,506,420
JBrowse link
G Rpgrip1l Rpgrip1-like ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:15,692,189...15,785,083
Ensembl chr19:15,692,150...15,785,083
JBrowse link
G Rrad RRAD, Ras related glycolysis inhibitor and calcium channel regulator ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:354,184...357,424
Ensembl chr19:354,198...357,417
JBrowse link
G Rspry1 ring finger and SPRY domain containing 1 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:10,352,449...10,403,015
Ensembl chr19:10,353,821...10,401,102
JBrowse link
G Sall1 spalt-like transcription factor 1 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:18,005,782...18,022,705
Ensembl chr19:18,007,503...18,022,705
JBrowse link
G Setd6 SET domain containing 6, protein lysine methyltransferase ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:9,343,309...9,350,477
Ensembl chr19:9,347,458...9,350,453
JBrowse link
G Sf3b3 splicing factor 3b, subunit 3 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:38,782,749...38,820,271
Ensembl chr19:38,783,040...38,820,245
JBrowse link
G Slc12a3 solute carrier family 12 member 3 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:10,630,651...10,679,250
Ensembl chr19:10,631,393...10,669,091
JBrowse link
G Slc12a4 solute carrier family 12 member 4 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:33,838,418...33,860,369
Ensembl chr19:33,838,419...33,860,331
JBrowse link
G Slc38a7 solute carrier family 38, member 7 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:9,209,203...9,225,472
Ensembl chr19:9,209,257...9,225,454
JBrowse link
G Slc6a2 solute carrier family 6 member 2 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:14,010,292...14,055,317
Ensembl chr19:14,010,386...14,050,357
JBrowse link
G Slc7a6 solute carrier family 7 member 6 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:34,073,472...34,100,268
Ensembl chr19:34,074,286...34,100,268
JBrowse link
G Slc7a6os solute carrier family 7, member 6 opposite strand ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:34,101,978...34,110,666
Ensembl chr19:34,101,982...34,110,651
JBrowse link
G Slc9a5 solute carrier family 9 member A5 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:33,225,481...33,246,913
Ensembl chr19:33,226,816...33,246,903
JBrowse link
G Smpd3 sphingomyelin phosphodiesterase 3 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:34,162,337...34,245,786
Ensembl chr19:34,162,341...34,245,749
JBrowse link
G Sntb2 syntrophin, beta 2 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:34,831,657...34,922,325
Ensembl chr19:34,831,584...34,914,113
JBrowse link
G Snx20 sorting nexin 20 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:18,435,935...18,445,108
Ensembl chr19:18,435,935...18,445,107
JBrowse link
G Spmip8 sperm microtubule inner protein 8 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:9,713,281...9,722,257
Ensembl chr19:9,712,641...9,722,257
JBrowse link
G St3gal2 ST3 beta-galactoside alpha-2,3-sialyltransferase 2 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:38,888,851...38,939,874
Ensembl chr19:38,923,999...38,939,869
JBrowse link
G Tango6 transport and golgi organization 6 homolog ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:34,569,588...34,757,362
Ensembl chr19:34,569,635...34,754,639
JBrowse link
G Tent4b terminal nucleotidyltransferase 4B ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:18,807,616...18,868,969
Ensembl chr19:18,807,525...18,869,537
JBrowse link
G Terb1 telomere repeat binding bouquet formation protein 1 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:473,720...528,069
Ensembl chr19:473,218...528,084
JBrowse link
G Terf2 telomeric repeat binding factor 2 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:34,976,963...35,005,813
Ensembl chr19:34,977,471...35,005,819
JBrowse link
G Thap11 THAP domain containing 11 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:33,746,977...33,748,794
Ensembl chr19:33,746,854...33,749,540
JBrowse link
G Tk2 thymidine kinase 2 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:708,859...731,786
Ensembl chr19:708,891...730,924
JBrowse link
G Tmed6 transmembrane p24 trafficking protein 6 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:34,966,813...34,972,900
Ensembl chr19:34,966,813...34,972,900
JBrowse link
G Tmem208 transmembrane protein 208 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:33,203,587...33,206,287
Ensembl chr19:33,203,587...33,212,183
JBrowse link
G Tox3 TOX high mobility group box family member 3 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:16,648,338...16,757,151
Ensembl chr19:16,648,342...16,757,148
JBrowse link
G Tppp3 tubulin polymerization-promoting protein family member 3 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:33,345,897...33,349,610
Ensembl chr19:33,345,898...33,349,577
JBrowse link
G Tradd TNFRSF1A-associated via death domain ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:33,136,148...33,142,714
Ensembl chr19:33,136,138...33,142,638
JBrowse link
G Tsnaxip1 translin-associated factor X interacting protein 1 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:33,716,834...33,734,824
Ensembl chr19:33,716,785...33,734,824
JBrowse link
G Usb1 U6 snRNA biogenesis phosphodiesterase 1 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:9,689,313...9,702,306
Ensembl chr19:9,689,316...9,702,302
JBrowse link
G Utp4 UTP4 small subunit processome component ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:34,790,962...34,820,558
Ensembl chr19:34,792,457...34,820,550
JBrowse link
G Vac14 VAC14 component of PIKFYVE complex ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:38,590,569...38,691,911
Ensembl chr19:38,590,569...38,691,909
JBrowse link
G Vps4a vacuolar protein sorting 4 homolog A ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:34,934,999...34,948,888
Ensembl chr19:34,934,961...34,948,887
JBrowse link
G Wwp2 WW domain containing E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:35,346,826...35,471,251
Ensembl chr19:35,346,814...35,472,699
JBrowse link
G Zdhhc1 zinc finger, DHHC-type containing 1 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:33,350,533...33,375,717
Ensembl chr19:33,350,533...33,375,616
JBrowse link
G Zfp319 zinc finger protein 319 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:9,702,827...9,706,806
Ensembl chr19:9,702,144...9,713,198
JBrowse link
G Zfp423 zinc finger protein 423 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:19,111,213...19,407,373
Ensembl chr19:19,110,238...19,407,373
JBrowse link
G Zfp90 zinc finger protein 90 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:34,321,980...34,333,195
Ensembl chr19:34,321,940...34,333,194
JBrowse link
Cleft Palate, Proliferative Retinopathy, and Developmental Delay term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrrc32 leucine rich repeat containing 32 ISO ClinVar Annotator: match by term: Cleft palate, proliferative retinopathy, and developmental delay OMIM
ClinVar
PMID:25741868 PMID:30976112 NCBI chr 1:152,785,709...152,802,997
Ensembl chr 1:152,786,511...152,798,373
JBrowse link
Coats disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fzd4 frizzled class receptor 4 ISO ClinVar Annotator: match by term: Coats disease ClinVar PMID:14507768 PMID:15035989 PMID:17955262 PMID:20340138 PMID:20938005 More... NCBI chr 1:143,279,934...143,288,799
Ensembl chr 1:143,280,065...143,285,724
JBrowse link
G Ndp norrin cystine knot growth factor NDP ISO ClinVar Annotator: match by term: Exudative retinopathy ClinVar PMID:26908610 NCBI chr  X:5,796,487...5,820,934
Ensembl chr  X:5,796,487...5,820,934
JBrowse link
G Pcdh12 protocadherin 12 ISO ClinVar Annotator: match by term: Exudative retinopathy ClinVar PMID:25741868 PMID:30459466 NCBI chr18:30,103,728...30,119,307
Ensembl chr18:30,103,728...30,119,307
JBrowse link
G Prss23 serine protease 23 ISO ClinVar Annotator: match by term: Coats disease ClinVar PMID:14507768 PMID:15035989 PMID:17955262 PMID:20340138 PMID:20938005 More... NCBI chr 1:143,402,725...143,422,182
Ensembl chr 1:143,401,396...143,422,091
JBrowse link
G Rcbtb1 RCC1 and BTB domain containing protein 1 ISO ClinVar Annotator: match by term: Coats disease | ClinVar Annotator: match by term: Exudative retinopathy ClinVar PMID:25741868 PMID:26908610 PMID:28492532 PMID:31494449 NCBI chr15:33,319,586...33,362,421
Ensembl chr15:33,319,586...33,365,302
JBrowse link
G Rho rhodopsin ISO ClinVar Annotator: match by term: Exudative retinopathy ClinVar PMID:7987331 PMID:9380676 PMID:10967073 PMID:25741868 PMID:28492532 More... NCBI chr 4:148,975,597...148,988,693
Ensembl chr 4:148,980,611...148,985,773
JBrowse link
G Rnf14 ring finger protein 14 ISO ClinVar Annotator: match by term: Exudative retinopathy ClinVar PMID:25741868 PMID:30459466 NCBI chr18:30,131,627...30,155,686
Ensembl chr18:30,131,691...30,155,685
JBrowse link
Concentric Annular Macular Dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP binding cassette subfamily A member 4 ISO DNA:mutations:multiple:
ClinVar Annotator: match by term: Macular dystrophy, concentric annular
ClinVar
RGD
PMID:10090887 PMID:10958761 PMID:10958763 PMID:15614537 PMID:18285826 More... RGD:7829711 NCBI chr 2:210,164,813...210,302,069
Ensembl chr 2:210,164,813...210,302,069
JBrowse link
G Crx cone-rod homeobox ISO ClinVar Annotator: match by term: Benign concentric annular macular dystrophy ClinVar PMID:22968130 PMID:23806086 PMID:24088041 PMID:25259927 PMID:25270190 More... NCBI chr 1:76,539,812...76,553,694
Ensembl chr 1:76,540,141...76,545,818
JBrowse link
G Impg1 interphotoreceptor matrix proteoglycan 1 ISO ClinVar Annotator: match by term: Benign concentric annular macular dystrophy | ClinVar Annotator: match by term: IMPG1-related condition
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:4412179 PMID:14691150 PMID:16199547 PMID:23993198 PMID:25741868 More... NCBI chr 8:81,243,624...81,389,722
Ensembl chr 8:81,243,624...81,389,722
JBrowse link
cone dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP binding cassette subfamily A member 4 ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:9054934 PMID:9973280 PMID:10880298 PMID:10958761 PMID:16103129 More... NCBI chr 2:210,164,813...210,302,069
Ensembl chr 2:210,164,813...210,302,069
JBrowse link
G Abhd12 abhydrolase domain containing 12, lysophospholipase ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:24697911 NCBI chr 3:139,659,315...139,719,529
Ensembl chr 3:139,659,317...139,719,564
JBrowse link
G Bbs5 Bardet-Biedl syndrome 5 ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:9536098 PMID:15137946 PMID:17576681 PMID:20498079 PMID:25741868 More... NCBI chr 3:54,410,429...54,431,831
Ensembl chr 3:54,410,775...54,431,829
JBrowse link
G Cabp4 calcium binding protein 4 ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:25307992 PMID:25741868 PMID:28041643 PMID:28341476 PMID:28492532 More... NCBI chr 1:201,428,671...201,442,950
Ensembl chr 1:201,428,672...201,433,172
JBrowse link
G Cacna2d4 calcium voltage-gated channel auxiliary subunit alpha2delta 4 ISO ClinVar Annotator: match by term: Cone dystrophy | ClinVar Annotator: match by term: RETINAL CONE DYSTROPHY ClinVar PMID:28041643 PMID:28492532 PMID:30718709 NCBI chr 4:152,408,588...152,521,478
Ensembl chr 4:152,408,657...152,521,268
JBrowse link
G Cdhr1 cadherin-related family member 1 ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:25741868 PMID:26766544 PMID:28041643 PMID:28492532 PMID:28765526 More... NCBI chr16:12,843,436...12,863,321
Ensembl chr16:12,843,437...12,863,396
JBrowse link
G Cerkl ceramide kinase-like ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:14681825 PMID:15708351 PMID:16199547 PMID:19578027 PMID:21151602 More... NCBI chr 3:64,238,714...64,344,695
Ensembl chr 3:64,237,522...64,340,675
JBrowse link
G Cfap410 cilia and flagella associated protein 410 ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:25741868 PMID:26167768 PMID:26974433 PMID:27596865 PMID:28041643 More... NCBI chr20:10,687,863...10,694,736
Ensembl chr20:10,687,863...10,694,737
JBrowse link
G Cnga3 cyclic nucleotide gated channel subunit alpha 3 ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:18521937 PMID:25741868 PMID:26493561 PMID:28041643 PMID:28492532 More... NCBI chr 9:39,447,534...39,494,044
Ensembl chr 9:39,448,034...39,493,183
JBrowse link
G Crb1 crumbs cell polarity complex component 1 ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:10508521 PMID:11231775 PMID:17128490 PMID:17297678 PMID:18055816 More... NCBI chr13:50,801,484...50,989,261
Ensembl chr13:50,800,959...50,989,261
JBrowse link
G Gnat2 G protein subunit alpha transducin 2 ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:25741868 PMID:28492532 PMID:31058429 NCBI chr 2:195,726,371...195,735,866
Ensembl chr 2:195,726,762...195,735,866
JBrowse link
G Guca1a guanylate cyclase activator 1A ISO ClinVar Annotator: match by term: Cone dystrophy | ClinVar Annotator: match by term: RETINAL CONE DYSTROPHY ClinVar PMID:15505030 PMID:25741868 PMID:28492532 NCBI chr 9:13,588,988...13,598,566
Ensembl chr 9:13,588,525...13,598,565
JBrowse link
G Guca1b guanylate cyclase activator 1B ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:15505030 PMID:25741868 PMID:28492532 NCBI chr 9:13,599,619...13,607,455
Ensembl chr 9:13,599,619...13,607,455
JBrowse link
G Gucy2e guanylate cyclase 2E ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:8554074 PMID:9618177 PMID:10676808 PMID:10951519 PMID:11115851 More... NCBI chr10:53,954,918...53,975,576
Ensembl chr10:53,959,010...53,974,067
JBrowse link
G Kcnv2 potassium voltage-gated channel modifier subfamily V member 2 ISO ClinVar Annotator: match by term: Cone dystrophy | ClinVar Annotator: match by term: RETINAL CONE DYSTROPHY ClinVar PMID:16909397 PMID:17896311 PMID:18235024 PMID:21882291 PMID:23885164 More... NCBI chr 1:224,999,552...225,014,062
Ensembl chr 1:224,999,552...225,014,062
JBrowse link
G Mall mal, T-cell differentiation protein-like ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:28041643 NCBI chr 3:114,927,897...114,950,840
Ensembl chr 3:114,927,897...114,950,785
JBrowse link
G Mtln mitoregulin ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:28041643 NCBI chr 3:115,018,810...115,019,668
Ensembl chr 3:115,019,473...115,019,643
Ensembl chr 3:115,019,473...115,019,643
JBrowse link
G Nmnat1 nicotinamide nucleotide adenylyltransferase 1 ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:29184169 NCBI chr 5:159,910,242...159,928,201
Ensembl chr 5:159,910,242...159,928,180
JBrowse link
G Nphp1 nephrocystin 1 ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:28041643 NCBI chr 3:114,960,650...115,016,234
Ensembl chr 3:114,960,650...115,016,234
JBrowse link
G Pde6c phosphodiesterase 6C ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:25741868 PMID:36909829 NCBI chr 1:235,909,583...235,965,435
Ensembl chr 1:235,909,775...235,965,315
JBrowse link
G Pitpnm3 PITPNM family member 3 ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:25741868 NCBI chr10:56,674,697...56,766,552
Ensembl chr10:56,676,261...56,766,584
JBrowse link
G Prph2 peripherin 2 ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:8644804 PMID:11139263 PMID:11801511 PMID:17653047 PMID:19038374 More... NCBI chr 9:14,066,149...14,081,454
Ensembl chr 9:14,066,156...14,081,454
JBrowse link
G Rab28 RAB28, member RAS oncogene family ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:25741868 PMID:36909829 NCBI chr14:69,245,846...69,322,968
Ensembl chr14:69,245,854...69,322,967
JBrowse link
G Rgr retinal G protein coupled receptor ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:10581022 PMID:25741868 PMID:27623334 PMID:28492532 PMID:30337596 More... NCBI chr16:12,801,594...12,816,402
Ensembl chr16:12,801,594...12,816,223
JBrowse link
G Rpgr retinitis pigmentosa GTPase regulator ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:11857109 PMID:11875055 PMID:22264887 PMID:25741868 PMID:28492532 More... NCBI chr  X:12,566,447...12,628,171
Ensembl chr  X:12,566,645...12,747,882
JBrowse link
G Rpgrip1 RPGR interacting protein 1 ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr15:24,814,576...24,867,522
Ensembl chr15:24,814,614...24,868,605
JBrowse link
G Sag S-antigen visual arrestin ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr 9:88,467,797...88,508,821
Ensembl chr 9:88,469,376...88,508,820
JBrowse link
G Srd5a3 steroid 5 alpha-reductase 3 ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:20637498 PMID:20700148 PMID:20852264 PMID:22304929 PMID:24433453 More... NCBI chr14:32,046,408...32,060,796
Ensembl chr14:32,046,408...32,060,747
JBrowse link
G Wdr19 WD repeat domain 19 ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:22019273 PMID:23559409 PMID:23683095 PMID:25741868 PMID:26275793 More... NCBI chr14:43,042,474...43,106,337
Ensembl chr14:43,042,478...43,106,288
JBrowse link
G Yap1 Yes1 associated transcriptional regulator ISS OMIM:180020 | OMIM:610024 | OMIM:610356 | OMIM:610478 | OMIM:613093 MouseDO NCBI chr 8:5,095,705...5,166,808
Ensembl chr 8:5,095,722...5,167,010
JBrowse link
Cone Dystrophy 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pde6c phosphodiesterase 6C ISO ClinVar Annotator: match by term: Cone dystrophy 4 | ClinVar Annotator: match by term: PDE6C-related condition
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:10393054 PMID:16199547 PMID:17576681 PMID:18614542 More... NCBI chr 1:235,909,583...235,965,435
Ensembl chr 1:235,909,775...235,965,315
JBrowse link
Cone Rod Dystrophy Amelogenesis Imperfecta term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cnnm4 cyclin and CBS domain divalent metal cation transport mediator 4 ISO ClinVar Annotator: match by term: Cone-rod dystrophy amelogenesis imperfecta ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:38,711,726...38,750,942
Ensembl chr 9:38,711,710...38,750,942
JBrowse link
cone-rod dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP binding cassette subfamily A member 4 ISO ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive | ClinVar Annotator: match by term: Cone-rod degeneration | ClinVar Annotator: match by term: Cone-rod dystrophy
ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant | ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive | ClinVar Annotator: match by term: Cone-rod degeneration | ClinVar Annotator: match by term: Rod-cone dystrophy
ClinVar PMID:9054934 PMID:9295268 PMID:9466990 PMID:9536098 PMID:9666097 More... NCBI chr 2:210,164,813...210,302,069
Ensembl chr 2:210,164,813...210,302,069
JBrowse link
G Acbd5 acyl-CoA binding domain containing 5 ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:28492532 NCBI chr17:85,206,178...85,248,909
Ensembl chr17:85,206,303...85,248,215
JBrowse link
G Adam9 ADAM metallopeptidase domain 9 ISO ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive | ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:19409519 PMID:25741868 PMID:28492532 NCBI chr16:67,022,538...67,101,647
Ensembl chr16:67,022,655...67,100,917
JBrowse link
G Ahi1 Abelson helper integration site 1 ISO ClinVar Annotator: match by term: Cone-rod dystrophy | ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:15322546 PMID:16155189 PMID:16453322 PMID:25525159 PMID:25616960 More... NCBI chr 1:15,762,485...15,891,213
Ensembl chr 1:15,762,462...15,891,041
JBrowse link
G Alms1 ALMS1, centrosome and basal body associated protein ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:17594715 PMID:25741868 PMID:26047050 PMID:26077327 PMID:28492532 More... NCBI chr 4:118,125,581...118,226,005
Ensembl chr 4:118,125,607...118,226,005
JBrowse link
G Arl6 ADP-ribosylation factor like GTPase 6 ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:25741868 NCBI chr11:40,711,878...40,738,254
Ensembl chr11:40,712,022...40,737,937
JBrowse link
G Best1 bestrophin 1 ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:25741868 NCBI chr 1:206,629,340...206,646,085
Ensembl chr 1:206,629,500...206,646,063
JBrowse link
G Cabp4 calcium binding protein 4 ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:19074807 PMID:23714322 PMID:25307992 PMID:25741868 PMID:28492532 More... NCBI chr 1:201,428,671...201,442,950
Ensembl chr 1:201,428,672...201,433,172
JBrowse link
G Cacna1f calcium voltage-gated channel subunit alpha1 F ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:25741868 PMID:28492532 PMID:30576320 PMID:30718709 PMID:36909829 NCBI chr  X:14,868,096...14,896,413
Ensembl chr  X:14,868,024...14,896,413
JBrowse link
G Cacna2d4 calcium voltage-gated channel auxiliary subunit alpha2delta 4 ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar NCBI chr 4:152,408,588...152,521,478
Ensembl chr 4:152,408,657...152,521,268
JBrowse link
G Cdhr1 cadherin-related family member 1 ISO ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant | ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive | ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:23044944 PMID:23233793 More... NCBI chr16:12,843,436...12,863,321
Ensembl chr16:12,843,437...12,863,396
JBrowse link
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Cone-rod dystrophy | ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:16909394 PMID:17345604 PMID:20690115 PMID:25741868 PMID:28492532 More... NCBI chr 7:35,310,071...35,399,388
Ensembl chr 7:35,310,199...35,399,392
JBrowse link
G Cep78 centrosomal protein 78 ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:25741868 PMID:27588451 PMID:27588452 PMID:27627988 PMID:28492532 More... NCBI chr 1:213,246,183...213,275,275
Ensembl chr 1:213,246,187...213,275,181
JBrowse link
G Cerkl ceramide kinase-like ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:14681825 PMID:15708351 PMID:16199547 PMID:19578027 PMID:21151602 More... NCBI chr 3:64,238,714...64,344,695
Ensembl chr 3:64,237,522...64,340,675
JBrowse link
G Cfap20 cilia and flagella associated protein 20 ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:25741868 PMID:35246562 NCBI chr19:9,608,867...9,622,558
Ensembl chr19:9,608,859...9,622,558
JBrowse link
G Cfap410 cilia and flagella associated protein 410 ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:25741868 PMID:27596865 PMID:28492532 PMID:31456290 NCBI chr20:10,687,863...10,694,736
Ensembl chr20:10,687,863...10,694,737
JBrowse link
G Cfap418 cilia and flagella associated protein 418 ISO ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive ClinVar PMID:25741868 NCBI chr 5:23,996,395...24,015,609
Ensembl chr 5:23,996,718...24,015,605
JBrowse link
G Cln3 CLN3 lysosomal/endosomal transmembrane protein, battenin ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:25741868 NCBI chr 1:181,156,071...181,169,458
Ensembl chr 1:181,156,073...181,167,434
JBrowse link
G Cnga1 cyclic nucleotide gated channel subunit alpha 1 ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:7479749 PMID:24033266 PMID:24265693 PMID:25326637 PMID:25741868 More... NCBI chr14:35,566,947...35,605,065
Ensembl chr14:35,567,125...35,605,065
JBrowse link
G Cnga3 cyclic nucleotide gated channel subunit alpha 3 ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:11536077 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30289319 More... NCBI chr 9:39,447,534...39,494,044
Ensembl chr 9:39,448,034...39,493,183
JBrowse link
G Cngb3 cyclic nucleotide gated channel subunit beta 3 ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:1347967 PMID:10888875 PMID:10958649 PMID:12815043 PMID:14757870 More... NCBI chr 5:32,746,988...32,995,121
Ensembl chr 5:32,746,988...32,995,121
JBrowse link
G Crb1 crumbs cell polarity complex component 1 ISO DNA:missense mutation:cds:p.C27F(c.80G¿¿¿>¿¿¿T)(human)
ClinVar Annotator: match by term: Cone-rod degeneration | ClinVar Annotator: match by term: Cone-rod dystrophy
ClinVar
RGD
PMID:25741868 PMID:28492532 PMID:32037395 PMID:36909829 PMID:23767994 RGD:13451130 NCBI chr13:50,801,484...50,989,261
Ensembl chr13:50,800,959...50,989,261
JBrowse link
G Crx cone-rod homeobox ISO ClinVar Annotator: match by term: CONE-ROD RETINAL DYSTROPHY | ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant | ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:9390563 PMID:9427255 PMID:10874321 PMID:10916183 PMID:11748859 More... NCBI chr 1:76,539,812...76,553,694
Ensembl chr 1:76,540,141...76,545,818
JBrowse link
G Dram2 DNA damage regulated autophagy modulator 2 ISO
ISS
ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar
MouseDO
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:36909829 NCBI chr 2:194,035,624...194,064,415
Ensembl chr 2:194,035,818...194,063,403
JBrowse link
G Fam161a FAM161 centrosomal protein A ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:20705278 PMID:20705279 PMID:24651477 PMID:25097241 PMID:25525159 More... NCBI chr14:97,009,449...97,027,865
Ensembl chr14:97,009,491...97,028,588
JBrowse link
G Gnptg N-acetylglucosamine-1-phosphate transferase subunit gamma ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:15060128 PMID:19370764 PMID:20301784 PMID:25741868 PMID:28492532 NCBI chr10:14,252,186...14,257,128
Ensembl chr10:14,251,136...14,257,096
JBrowse link
G Gphn gephyrin ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:15258582 PMID:16269441 PMID:20006610 PMID:22065924 PMID:23847139 More... NCBI chr 6:96,954,365...97,483,617
Ensembl chr 6:96,892,148...97,483,612
JBrowse link
G Guca1a guanylate cyclase activator 1A ISO ClinVar Annotator: match by term: Cone-rod dystrophy | ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:24352742 PMID:25741868 PMID:28492532 PMID:36909829 NCBI chr 9:13,588,988...13,598,566
Ensembl chr 9:13,588,525...13,598,565
JBrowse link
G Guca1b guanylate cyclase activator 1B ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:24352742 PMID:25741868 NCBI chr 9:13,599,619...13,607,455
Ensembl chr 9:13,599,619...13,607,455
JBrowse link
G Gucy2e guanylate cyclase 2E ISO ClinVar Annotator: match by term: Cone-rod degeneration | ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:10676808 PMID:11115851 PMID:11565546 PMID:12552567 PMID:24875811 More... NCBI chr10:53,954,918...53,975,576
Ensembl chr10:53,959,010...53,974,067
JBrowse link
G Ift122 intraflagellar transport 122 ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:148,905,031...148,975,458
Ensembl chr 4:148,905,046...148,975,458
JBrowse link
G Ift88 intraflagellar transport 88 ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr15:31,573,325...31,666,068
Ensembl chr15:31,573,376...31,672,147
JBrowse link
G Impg2 interphotoreceptor matrix proteoglycan 2 ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:25741868 NCBI chr11:44,318,836...44,418,382
Ensembl chr11:44,318,836...44,418,382
JBrowse link
G Inpp5e inositol polyphosphate-5-phosphatase E ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:19668216 PMID:23034536 PMID:23386033 PMID:23847139 PMID:25741868 More... NCBI chr 3:9,216,776...9,229,539
Ensembl chr 3:9,216,776...9,229,450
JBrowse link
G Itga4 integrin subunit alpha 4 ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:64,162,764...64,235,010
Ensembl chr 3:64,163,085...64,233,715
JBrowse link
G Kiaa0586 KIAA0586 homolog ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:20301500 PMID:24033266 PMID:25741868 PMID:25807282 PMID:26026149 More... NCBI chr 6:89,622,711...89,725,951
Ensembl chr 6:89,623,699...89,725,962
JBrowse link
G Lrat lecithin retinol acyltransferase ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:25741868 NCBI chr 2:168,264,093...168,273,155
Ensembl chr 2:168,266,877...168,273,619
JBrowse link
G Mc4r melanocortin 4 receptor ISO ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive ClinVar PMID:10903341 PMID:12499395 PMID:12690102 PMID:16507637 PMID:16611215 More... NCBI chr18:60,419,832...60,421,719
Ensembl chr18:60,419,832...60,421,719
JBrowse link
G Mfsd8 major facilitator superfamily domain containing 8 ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:25741868 PMID:36909829 NCBI chr 2:123,822,042...123,847,808
Ensembl chr 2:123,816,614...123,857,971
JBrowse link
G Mir103a2 microRNA 103a-2 ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar NCBI chr 3:118,510,194...118,510,279
Ensembl chr 3:118,510,194...118,510,279
JBrowse link
G Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599
JBrowse link
G Mt-atp8 mitochondrially encoded ATP synthase membrane subunit 8 ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:7,758...7,961
NCBI chr MT:7,758...7,961
NCBI chr MT:7,758...7,961
NCBI chr MT:7,758...7,961
NCBI chr MT:7,758...7,961
NCBI chr MT:7,758...7,961
NCBI chr MT:7,758...7,961
NCBI chr MT:7,758...7,961
NCBI chr MT:7,758...7,961
Ensembl chr MT:7,758...7,961
JBrowse link
G Mt-co1 mitochondrially encoded cytochrome c oxidase I ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:5,323...6,867
NCBI chr MT:5,323...6,867
NCBI chr MT:5,323...6,867
NCBI chr MT:5,323...6,867
NCBI chr MT:5,323...6,867
NCBI chr MT:5,323...6,867
NCBI chr MT:5,323...6,867
NCBI chr MT:5,323...6,867
Ensembl chr MT:5,323...6,867
JBrowse link
G Mt-co2 mitochondrially encoded cytochrome c oxidase II ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:7,006...7,689
NCBI chr MT:7,006...7,689
NCBI chr MT:7,006...7,689
NCBI chr MT:7,006...7,689
NCBI chr MT:7,006...7,689
NCBI chr MT:7,006...7,689
NCBI chr MT:7,006...7,689
NCBI chr MT:7,006...7,689
NCBI chr MT:7,006...7,689
Ensembl chr MT:7,006...7,689
JBrowse link
G Mt-co3 mitochondrially encoded cytochrome c oxidase III ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:8,599...9,382
NCBI chr MT:8,599...9,382
NCBI chr MT:8,599...9,382
NCBI chr MT:8,599...9,382
NCBI chr MT:8,599...9,382
NCBI chr MT:8,599...9,382
NCBI chr MT:8,599...9,382
NCBI chr MT:8,599...9,382
Ensembl chr MT:8,599...9,382
JBrowse link
G Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694
JBrowse link
G Mt-nd2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:3,904...4,942
NCBI chr MT:3,904...4,942
NCBI chr MT:3,904...4,942
NCBI chr MT:3,904...4,942
NCBI chr MT:3,904...4,942
NCBI chr MT:3,904...4,942
NCBI chr MT:3,904...4,942
NCBI chr MT:3,904...4,942
NCBI chr MT:3,904...4,942
NCBI chr MT:3,904...4,942
Ensembl chr MT:3,904...4,942
JBrowse link
G Mt-nd3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:9,451...9,798
NCBI chr MT:9,451...9,798
NCBI chr MT:9,451...9,798
NCBI chr MT:9,451...9,798
NCBI chr MT:9,451...9,798
NCBI chr MT:9,451...9,798
NCBI chr MT:9,451...9,798
NCBI chr MT:9,451...9,798
NCBI chr MT:9,451...9,798
NCBI chr MT:9,451...9,798
Ensembl chr MT:9,451...9,798
JBrowse link
G Mt-nd4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:10,160...11,537
NCBI chr MT:10,160...11,537
NCBI chr MT:10,160...11,537
NCBI chr MT:10,160...11,537
NCBI chr MT:10,160...11,537
NCBI chr MT:10,160...11,537
NCBI chr MT:10,160...11,537
NCBI chr MT:10,160...11,537
NCBI chr MT:10,160...11,537
NCBI chr MT:10,160...11,537
Ensembl chr MT:10,160...11,537
JBrowse link
G Mt-nd4l mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:9,870...10,166
NCBI chr MT:9,870...10,166
NCBI chr MT:9,870...10,166
NCBI chr MT:9,870...10,166
NCBI chr MT:9,870...10,166
NCBI chr MT:9,870...10,166
NCBI chr MT:9,870...10,166
NCBI chr MT:9,870...10,166
NCBI chr MT:9,870...10,166
NCBI chr MT:9,870...10,166
Ensembl chr MT:9,870...10,166
JBrowse link
G Mt-nd5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:11,736...13,565
NCBI chr MT:11,736...13,565
NCBI chr MT:11,736...13,565
NCBI chr MT:11,736...13,565
NCBI chr MT:11,736...13,565
NCBI chr MT:11,736...13,565
NCBI chr MT:11,736...13,565
NCBI chr MT:11,736...13,565
NCBI chr MT:11,736...13,565
NCBI chr MT:11,736...13,565
Ensembl chr MT:11,736...13,565
JBrowse link
G Nmnat1 nicotinamide nucleotide adenylyltransferase 1 ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:25741868 PMID:26316326 PMID:28492532 NCBI chr 5:159,910,242...159,928,201
Ensembl chr 5:159,910,242...159,928,180
JBrowse link
G Nr2e3 nuclear receptor subfamily 2, group E, member 3 ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:10655056 PMID:15459973 PMID:16199547 PMID:18294254 PMID:19273793 More... NCBI chr 8:60,365,581...60,373,383
Ensembl chr 8:60,366,124...60,373,163
JBrowse link
G Opa1 OPA1, mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:25741868 NCBI chr11:71,108,100...71,185,170
Ensembl chr11:71,109,873...71,185,109
JBrowse link
G Pank2 pantothenate kinase 2 ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:11479594 PMID:12510040 PMID:16023068 PMID:28492532 NCBI chr 3:118,483,382...118,519,551
Ensembl chr 3:118,483,444...118,518,320
JBrowse link
G Pcare photoreceptor cilium actin regulator ISO ClinVar Annotator: match by term: Cone-rod degeneration ClinVar PMID:20398886 PMID:24339724 PMID:25741868 PMID:26496393 PMID:28492532 More... NCBI chr 6:23,749,700...23,758,424
Ensembl chr 6:23,749,757...23,758,169
JBrowse link
G Pde6b phosphodiesterase 6B ISO ClinVar Annotator: match by term: Cone-rod dystrophy | ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:25741868 PMID:30718709 NCBI chr14:1,323,310...1,366,450
Ensembl chr14:1,323,310...1,366,450
JBrowse link
G Pde6c phosphodiesterase 6C ISO ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive ClinVar PMID:28492532 NCBI chr 1:235,909,583...235,965,435
Ensembl chr 1:235,909,775...235,965,315
JBrowse link
G Pitpnm3 PITPNM family member 3 ISO ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant | ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive ClinVar PMID:25741868 PMID:28492532 NCBI chr10:56,674,697...56,766,552
Ensembl chr10:56,676,261...56,766,584
JBrowse link
G Pnpla6 patatin-like phospholipase domain containing 6 ISO ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive | ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:3963113 PMID:8053762 PMID:18313024 PMID:20603202 PMID:24355708 More... NCBI chr12:1,574,387...1,603,735
Ensembl chr12:1,560,363...1,603,734
JBrowse link
G Poc1b POC1 centriolar protein B ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:25741868 NCBI chr 7:33,924,112...34,025,908
Ensembl chr 7:33,924,189...34,025,903
JBrowse link
G Prom1 prominin 1 ISO ClinVar Annotator: match by term: CONE-ROD RETINAL DYSTROPHY | ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant | ClinVar Annotator: match by term: Cone-rod degeneration | ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:10205271 PMID:16199547 PMID:17605048 PMID:19718270 PMID:20042663 More... NCBI chr14:66,989,545...67,094,534
Ensembl chr14:66,990,160...67,094,527
JBrowse link
G Prph2 peripherin 2 ISO ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant | ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive | ClinVar Annotator: match by term: Cone-rod degeneration | ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:7493155 PMID:8015786 PMID:8111389 PMID:8302543 PMID:8485575 More... NCBI chr 9:14,066,149...14,081,454
Ensembl chr 9:14,066,156...14,081,454
JBrowse link
G Rab28 RAB28, member RAS oncogene family ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:23746546 PMID:25741868 PMID:28492532 PMID:36909829 NCBI chr14:69,245,846...69,322,968
Ensembl chr14:69,245,854...69,322,967
JBrowse link
G Rbp3 retinol binding protein 3 ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar NCBI chr16:9,267,538...9,276,006
Ensembl chr16:9,267,538...9,276,006
JBrowse link
G Rdh12 retinol dehydrogenase 12 ISO ClinVar Annotator: match by term: Cone-rod degeneration
ClinVar Annotator: match by term: Cone-rod dystrophy
ClinVar PMID:15258582 PMID:16269441 PMID:20006610 PMID:22065924 PMID:23847139 More... NCBI chr 6:98,015,465...98,028,388
Ensembl chr 6:98,015,465...98,028,388
JBrowse link
G Rho rhodopsin ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:7981701 PMID:8088850 PMID:9380676 PMID:11139241 PMID:12871954 More... NCBI chr 4:148,975,597...148,988,693
Ensembl chr 4:148,980,611...148,985,773
JBrowse link
G Rims1 regulating synaptic membrane exocytosis 1 ISO ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant ClinVar PMID:28492532 NCBI chr 9:24,696,959...25,196,404
Ensembl chr 9:24,698,854...25,196,631
JBrowse link
G Rlig1 RNA 5'-phosphate and 3'-OH ligase 1 ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:25741868 PMID:28492532 PMID:30193310 NCBI chr 7:35,396,876...35,408,633
Ensembl chr 7:35,397,995...35,409,600
JBrowse link
G Rpe65 retinoid isomerohydrolase RPE65