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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 chr10:7,503,351...7,599,474 JBrowse link
G Apoe apolipoprotein E susceptibility ISO RGD PMID:17562993 RGD:7495760 NCBI chr 1:88,481,889...88,485,816 JBrowse link
G Aqp4 aquaporin 4 IEP RGD PMID:18836575 RGD:5490154 NCBI chr18:6,782,389...6,799,034 JBrowse link
G Atxn1 ataxin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28182653 NCBI chr17:18,943,397...19,354,751 JBrowse link
G Casp3 caspase 3 IEP protein:increased expression:retina RGD PMID:18836575 RGD:5490154 NCBI chr16:52,395,539...52,413,794 JBrowse link
G Cat catalase treatment IEP associated with radiation injuries;protein:decreased activity:retina: RGD PMID:17514533 RGD:9107626 NCBI chr 3:110,297,340...110,329,526 JBrowse link
G Cdh23 cadherin-related 23 ISO RGD PMID:14609561 RGD:8662280 NCBI chr20:28,783,124...29,165,624 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 7:37,196,765...37,285,955 JBrowse link
G Chat choline O-acetyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23075401 NCBI 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 JBrowse link
G Epas1 endothelial PAS domain protein 1 ISO RGD PMID:14608355 RGD:734934 NCBI chr 6:13,543,252...13,626,147 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 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 JBrowse link
G Gfap glial fibrillary acidic protein IEP protein:increased expression:retina RGD PMID:18836575 RGD:5490154 NCBI chr10:88,352,987...88,361,661 JBrowse link
G Grk1 G protein-coupled receptor kinase 1 IEP mRNA, protein:decreased expression:retina RGD PMID:10549637 RGD:1600004 NCBI chr16:82,821,184...82,837,971 JBrowse link
G Hmox1 heme oxygenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23075401 NCBI chr19:13,452,365...13,479,823 JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19324842 NCBI chr 8:27,829,688...27,841,618 JBrowse link
G Il10 interleukin 10 treatment ISO RGD PMID:23720065 PMID:21273540 RGD:7364808, RGD:7364850 NCBI chr13:45,024,921...45,029,586 JBrowse link
G Inpp1 inositol polyphosphate-1-phosphatase ISO ClinVar Annotator: match by term: Retinal Diseases ClinVar NCBI chr 9:56,161,816...56,209,774 JBrowse link
G Map2k3 mitogen activated protein kinase kinase 3 treatment IDA RGD PMID:16805832 RGD:7495810 NCBI chr10:46,107,639...46,128,986 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 JBrowse link
G Mir182 microRNA 182 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27208084 NCBI chr 4:58,784,818...58,784,879 JBrowse link
G Mir183 microRNA 183 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27208084 NCBI 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 JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23075401 NCBI chr 3:174,103,474...174,111,434 JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO RGD PMID:20532821 RGD:7387239 NCBI chr 5:163,748,346...163,768,141 JBrowse link
G Mtnr1a melatonin receptor 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21915336 NCBI 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 6:110,675,107...110,715,586 JBrowse link
G Nos2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23075401 NCBI chr10:64,313,335...64,349,221 JBrowse link
G Ocln occludin ISO CTD Direct Evidence: marker/mechanism CTD PMID:19324842 NCBI chr 2:33,391,303...33,442,207 JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO CTD Direct Evidence: therapeutic CTD PMID:11840346 NCBI chr 7:113,419,882...113,438,343 JBrowse link
G Pkd2 polycystin 2, transient receptor potential cation channel ISO CTD Direct Evidence: marker/mechanism CTD PMID:25013951 NCBI chr14:5,541,821...5,585,140 JBrowse link
G Prph2 peripherin 2 IEP RGD PMID:8320859 RGD:8553226 NCBI chr 9:14,066,149...14,081,454 JBrowse link
G Ptprc protein tyrosine phosphatase, receptor type, C ISO CTD Direct Evidence: marker/mechanism CTD PMID:19324842 NCBI chr13:52,147,717...52,259,810 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 JBrowse link
G Sirt1 sirtuin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23217256 NCBI chr20:25,305,953...25,328,000 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 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 8:53,286,396...53,291,541 JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19324842 NCBI chr20:3,626,685...3,629,303 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 JBrowse link
G Uchl1 ubiquitin C-terminal hydrolase L1 IEP mRNA:decreased expression:retina RGD PMID:18836575 RGD:5490154 NCBI chr14:41,838,859...41,849,743 JBrowse link
G Vegfa vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:19324842 NCBI chr 9:22,452,854...22,468,194 JBrowse link
G Vim vimentin ISO CTD Direct Evidence: marker/mechanism CTD PMID:23075401 NCBI chr17:81,577,261...81,585,746 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 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 7:55,789,180...55,793,216 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 JBrowse link
G RT1-CE13 RT1 class I, locus CE13 ISO DNA:polymorphisms:cds:HLA-Bw62 (human) RGD PMID:2801857 RGD:7365119 NCBI chr20:3,314,491...3,322,815 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:3002862 PMID:3253185 PMID:9054934 PMID:9295268 PMID:9466990 More... NCBI chr 2:212,849,470...212,986,730 JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISS MouseDO NCBI chr10:67,503,077...67,504,875 JBrowse link
G Ccr2 C-C motif chemokine receptor 2 ISS MouseDO NCBI chr 8:132,611,883...132,619,106 JBrowse link
G Cd46 CD46 molecule ISS MouseDO NCBI chr13:109,104,122...109,134,903 JBrowse link
G Cfhr1 complement factor H-related 1 ISO ClinVar Annotator: match by term: Age-related macular degeneration ClinVar PMID:16998489 PMID:17367211 PMID:18006700 PMID:20843825 NCBI chr13:51,395,583...51,410,571 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 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 JBrowse link
G Ppargc1a PPARG coactivator 1 alpha ISS MouseDO NCBI chr14:63,073,505...63,729,215 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
ClinVar
OMIM
PMID:8488843 PMID:9279208 PMID:9360638 PMID:22949395 PMID:24126160 More... NCBI chr 1:88,481,889...88,485,816 JBrowse link
G Cfhr1 complement factor H-related 1 ISO CTD Direct Evidence: marker/mechanism CTD
OMIM
NCBI chr13:51,395,583...51,410,571 JBrowse link
G Cryba1 crystallin, beta A1 ISS OMIM:603075 MouseDO NCBI chr10:62,608,373...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: HMCN1-related condition | ClinVar Annotator: match by term: MACULOPATHY, AGE-RELATED, 1
OMIM
CTD
ClinVar
PMID:9536098 PMID:9715689 PMID:14570714 PMID:17216616 PMID:17576681 More... NCBI chr13:65,165,532...65,634,681 JBrowse link
G Vldlr very low density lipoprotein receptor ISS OMIM:603075 MouseDO NCBI chr 1:234,239,769...234,272,150 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 JBrowse link
age related macular degeneration 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cx3cr1 C-X3-C motif chemokine receptor 1 ISO
ISS
ClinVar Annotator: match by term: Age related macular degeneration 12
OMIM:613784
OMIM
ClinVar
MouseDO
PMID:25741868 NCBI chr 8:128,661,294...128,679,048 JBrowse link
age related macular degeneration 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfi complement factor I ISO ClinVar Annotator: match by term: Age related macular degeneration 13 | ClinVar Annotator: match by term: Macular degeneration, age-related, 13, susceptibility to ClinVar
OMIM
PMID:849647 PMID:8613545 PMID:9536098 PMID:15917334 PMID:16199547 More... NCBI chr 2:218,389,079...218,430,565 JBrowse link
age related macular degeneration 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP binding cassette subfamily A member 4 ISO ClinVar Annotator: match by term: MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF ClinVar PMID:3002862 PMID:9054934 PMID:9973280 PMID:10090887 PMID:10612508 More... NCBI chr 2:212,849,470...212,986,730 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 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 JBrowse link
G Fbln5 fibulin 5 ISO ClinVar Annotator: match by term: MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF ClinVar PMID:15269314 PMID:16652333 PMID:20007835 PMID:28492532 NCBI chr 6:120,899,219...120,977,829 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:2241452 PMID:9144525 PMID:9182899 PMID:9570574 PMID:9634479 More... NCBI chr 2:57,300,510...57,348,759 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:3002862 PMID:3253185 PMID:9054934 PMID:9295268 PMID:9466990 More... NCBI chr 2:212,849,470...212,986,730 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:2965322 PMID:15269314 PMID:16374472 PMID:16652333 PMID:17035250 More... NCBI chr 6:120,899,219...120,977,829 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:3418956 PMID:8072530 PMID:9536098 PMID:9811382 PMID:10577907 More... NCBI chr13:51,512,376...51,613,829 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 chr16:7,771,311...7,841,895 JBrowse link
age related macular degeneration 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C3 complement C3 ISO DNA:SNPs, haplotype: :multiple RGD PMID:19899988 RGD:7401252 NCBI chr 9:2,174,412...2,201,339 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 JBrowse link
G Dct dopachrome tautomerase ISO ClinVar Annotator: match by term: Age related macular degeneration 7 ClinVar NCBI chr15:101,469,159...101,508,029 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 JBrowse link
G Mc1r melanocortin 1 receptor ISO ClinVar Annotator: match by term: Macular degeneration, age-related, neovascular type ClinVar NCBI chr19:68,360,950...68,363,877 JBrowse link
age related macular degeneration 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C3 complement C3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Age related macular degeneration 9 | ClinVar Annotator: match by term: MACULAR DEGENERATION, AGE-RELATED, 9, SUSCEPTIBILITY TO
CTD
OMIM
ClinVar
PMID:1976733 PMID:7870343 PMID:9536098 PMID:12462331 PMID:14639503 More... NCBI chr 9:2,174,412...2,201,339 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: Aland island eye disease ClinVar PMID:30718709 NCBI chr 1:201,428,671...201,442,950 JBrowse link
G Cacna1f calcium voltage-gated channel subunit alpha1 F ISO ClinVar Annotator: match by term: Aland island eye disease | ClinVar Annotator: match by term: Forsius Eriksson type ocular albinism
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 JBrowse link
G Whrn whirlin ISO ClinVar Annotator: match by term: Aland island eye disease ClinVar PMID:3442652 PMID:25741868 PMID:28492532 PMID:30718709 NCBI chr 5:76,828,308...76,911,945 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:2440063 PMID:2871766 PMID:9063741 PMID:9343467 PMID:9409865 More... RGD:1601169, RGD:8696018, RGD:8696016, RGD:8696015, RGD:8696013 NCBI chr 4:119,683,085...119,783,471 JBrowse link
G Cct7 chaperonin containing TCP1 subunit 7 ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chr 4:119,546,730...119,563,973 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 9:69,812,859...69,819,959 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 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 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 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 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 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 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 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 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 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 JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Alstrom's syndrome ClinVar PMID:23975875 PMID:25589632 PMID:28492532 NCBI chr 3:82,059,648...82,332,130 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 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: VITREORETINOCHOROIDOPATHY, AUTOSOMAL DOMINANT, WITH NANOPHTHALMOS | ClinVar Annotator: match by term: VRCP autosomal dominant
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:2133066 PMID:9536098 PMID:10737974 PMID:10788642 PMID:10798642 More... NCBI chr 1:206,629,340...206,646,085 JBrowse link
G Fth1 ferritin heavy chain 1 ISO ClinVar Annotator: match by term: Autosomal dominant vitreoretinochoroidopathy | ClinVar Annotator: match by term: VITREORETINOCHOROIDOPATHY, AUTOSOMAL DOMINANT, WITH NANOPHTHALMOS | ClinVar Annotator: match by term: VRCP autosomal dominant ClinVar PMID:2133066 PMID:10788642 PMID:10798642 PMID:14615048 PMID:18985398 More... NCBI chr 1:216,052,037...216,054,325 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 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 3:110,297,340...110,329,526 JBrowse link
G Flt1 Fms related receptor tyrosine kinase 1 ISO protein:decreased expression:aqueous humor: RGD PMID:23853629 RGD:10402120 NCBI chr12:12,333,050...12,504,750 JBrowse link
G Map3k8 mitogen-activated protein kinase kinase kinase 8 ISO protein:increased activity:serum: RGD PMID:28724746 RGD:151356966 NCBI chr17:58,078,175...58,098,455 JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO protein:decreased expression:vitreous: RGD PMID:19799585 RGD:10449447 NCBI chr 7:113,419,882...113,438,343 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:3418956 PMID:8072530 PMID:9536098 PMID:9811382 PMID:10577907 More... NCBI chr13:51,512,376...51,613,829 JBrowse link
bestrophinopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Best1 bestrophin 1 ISO
ISS
ClinVar Annotator: match by term: Autosomal recessive bestrophinopathy
OMIM:611809
OMIM
ClinVar
MouseDO
PMID:2133066 PMID:2162627 PMID:2855908 PMID:3401268 PMID:9700209 More... NCBI chr 1:206,629,340...206,646,085 JBrowse link
G Crb1 crumbs cell polarity complex component 1 ISO ClinVar Annotator: match by term: Autosomal recessive bestrophinopathy ClinVar PMID:15623792 PMID:17128490 PMID:17297678 PMID:22065545 PMID:23379534 More... NCBI chr13:53,352,932...53,540,019 JBrowse link
G Fth1 ferritin heavy chain 1 ISO ClinVar Annotator: match by term: Autosomal recessive bestrophinopathy ClinVar PMID:2133066 PMID:10788642 PMID:10798642 PMID:18985398 PMID:20927214 More... NCBI chr 1:216,052,037...216,054,325 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 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 2:212,849,470...212,986,730 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:3196484 PMID:15042513 PMID:15937078 PMID:16088246 PMID:16179904 More... NCBI chr16:53,650,978...53,675,916 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 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 2:121,932,968...121,937,672 JBrowse link
G RT1-CE13 RT1 class I, locus CE13 ISO DNA:polymorphisms:cds:HLA-B12 (human) RGD PMID:3341436 RGD:7365121 NCBI chr20:3,314,491...3,322,815 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 1:142,718,262...142,731,621 JBrowse link
Boucher-Neuhauser syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Igf1 insulin-like growth factor 1 ISO ClinVar Annotator: match by term: Chorioretinal dystrophy, spinocerebellar ataxia and hypogonadotropic hypogonadism ClinVar NCBI chr 7:24,169,608...24,249,446 JBrowse link
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 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:2557489 PMID:3963113 PMID:8053762 PMID:9321767 PMID:16199547 More... NCBI chr12:1,574,387...1,603,735 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 chr10:94,696,556...94,770,387 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 PMID:31589614 NCBI chr 1:97,386,326...97,387,039 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 ClinVar Annotator: match by term: Prolonged electroretinal response suppression 1 | ClinVar Annotator: match by term: RGS9-related condition OMIM
ClinVar
PMID:25741868 PMID:28492532 NCBI chr10:94,696,556...94,770,387 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 | ClinVar Annotator: match by term: RGS9BP-related condition OMIM
ClinVar
PMID:17698770 PMID:19818506 PMID:25741868 PMID:28492532 PMID:31144483 NCBI chr 1:97,386,326...97,387,039 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 WITH HEMORRHAGE | 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 | ClinVar Annotator: match by term: PORENCEPHALY, TYPE 1, AUTOSOMAL DOMINANT
OMIM:175780
ClinVar
OMIM
MouseDO
PMID:906807 PMID:2211826 PMID:3691802 PMID:6428250 PMID:7257746 More... NCBI chr16:84,885,597...84,996,482 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 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 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 chr18:24,038,596...24,049,061 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 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 chr12:25,237,977...25,248,356 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 chr10:54,212,537...54,234,146 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 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 chr10:54,212,537...54,234,146 JBrowse link
G Pfas phosphoribosylformylglycinamidine synthase ISO ClinVar Annotator: match by term: CTC1-related condition | 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 chr10:54,189,157...54,210,685 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 | ClinVar Annotator: match by term: STN1-related condition OMIM
ClinVar
PMID:25741868 PMID:27432940 PMID:28492532 NCBI chr 1:246,391,311...246,429,844 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 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 7:130,977,561...131,006,627 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:7981671 More... NCBI chr  X:82,395,463...82,554,249 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 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 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 JBrowse link
G Arl11 ARF like GTPase 11 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:35,483,330...35,485,579 JBrowse link
G Atp7b ATPase copper transporting beta ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr16:76,654,725...76,726,092 JBrowse link
G Bora bora, aurora kinase A activator ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:82,205,467...82,243,499 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 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 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 JBrowse link
G Cdadc1 cytidine and dCMP deaminase domain containing 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:37,902,789...37,934,853 JBrowse link
G Ckap2 cytoskeleton associated protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr16:76,542,114...76,567,297 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 JBrowse link
G Cnmd chondromodulin ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:55,041,548...55,066,297 JBrowse link
G Commd6 COMM domain containing 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:84,882,069...84,889,124 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 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 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 JBrowse link
G Dis3 DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:82,231,922...82,258,299 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 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 JBrowse link
G Ednrb endothelin receptor type B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:87,055,490...87,086,765 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 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 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 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 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 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 JBrowse link
G Kctd12 potassium channel tetramerization domain containing 12 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:86,214,786...86,220,725 JBrowse link
G Klf12 KLF transcription factor 12 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:83,037,548...83,469,998 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 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 JBrowse link
G Kpna3 karyopherin subunit alpha 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:39,712,375...39,786,127 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 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 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 JBrowse link
G Mycbp2 MYC binding protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:86,352,061...86,590,126 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 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 JBrowse link
G Nek3 NIMA-related kinase 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr16:76,569,465...76,594,921 JBrowse link
G Nek5 NIMA-related kinase 5 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr16:76,597,857...76,641,113 JBrowse link
G Nudt15 nudix hydrolase 15 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:55,117,312...55,123,983 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 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 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 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 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 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 JBrowse link
G Phf11 PHD finger protein 11 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:37,568,090...37,592,490 JBrowse link
G Pibf1 progesterone immunomodulatory binding factor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:82,258,243...82,427,546 JBrowse link
G Pou4f1 POU class 4 homeobox 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:87,668,328...87,674,643 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 JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:54,780,858...54,911,989 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 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 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 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 JBrowse link
G Scel sciellin ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:80,339,661...80,456,546 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 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 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 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 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 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 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 JBrowse link
G Sucla2 succinate-CoA ligase ADP-forming subunit beta ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:55,161,894...55,215,031 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 JBrowse link
G Tbc1d4 TBC1 domain family, member 4 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:84,670,756...84,848,876 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 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 JBrowse link
G Trim13 tripartite motif-containing 13 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:39,909,587...39,948,719 JBrowse link
G Uchl3 ubiquitin C-terminal hydrolase L3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:84,888,847...84,942,095 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 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 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 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 JBrowse link
G Adcy7 adenylate cyclase 7 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:34,913,154...34,972,366 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 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 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 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 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 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 JBrowse link
G Arl2bp ARF 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 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 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 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 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 JBrowse link
G Brd7 bromodomain containing 7 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:34,882,238...34,910,944 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 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 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 chr19:435,520...444,927 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 JBrowse link
G Cbfb core-binding factor subunit beta ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:49,955,133...50,002,661 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 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 JBrowse link
G Ccl17 C-C motif chemokine ligand 17 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:10,208,120...10,218,340 JBrowse link
G Ccl22 C-C motif chemokine ligand 22 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:10,263,589...10,270,359 JBrowse link
G Cdh1 cadherin 1 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:51,402,178...51,471,572 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 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 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 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 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 JBrowse link
G Cenpt centromere protein T ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:50,644,548...50,651,048 JBrowse link
G Ces1d carboxylesterase 1D ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:30,046,494...30,085,039 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 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 JBrowse link
G Ces5a carboxylesterase 5A ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:11,198,829...11,504,887 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 JBrowse link
G Cfap263 cilia and flagella associated protein 263 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:9,497,000...9,516,917 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 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 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 JBrowse link
G Ciapin1 cytokine induced apoptosis inhibitor 1 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:10,185,955...10,199,120 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 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 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 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 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 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 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 chr19:35,106,802...35,121,101 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 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 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 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 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 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 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 chr19:9,562,340...9,602,136 JBrowse link
G Ctcf CCCTC-binding factor ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:50,431,478...50,481,013 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 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 chr19:10,233,326...10,244,856 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 JBrowse link
G Cyld CYLD lysine 63 deubiquitinase ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:34,487,491...34,547,311 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 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 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 JBrowse link
G Dok4 docking protein 4 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:10,152,511...10,163,182 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 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 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 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 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 chr19:538,207...561,110 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 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 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 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 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 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 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 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 JBrowse link
G Fcsk fucose kinase ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:55,743,746...55,783,873 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 JBrowse link
G Fto FTO, alpha-ketoglutarate dependent dioxygenase ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:31,456,749...31,865,011 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 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 JBrowse link
G Gnao1 G protein subunit alpha o1 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:11,040,788...11,198,437 JBrowse link
G Got2 glutamic-oxaloacetic transaminase 2 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:9,180,428...9,206,113 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 JBrowse link
G Heatr3 HEAT repeat containing 3 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:35,065,915...35,103,779 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 chr19:10,604,360...10,624,168 JBrowse link
G Hsd11b2 hydroxysteroid 11-beta dehydrogenase 2 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:50,307,569...50,312,812 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 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 JBrowse link
G Irx3 iroquois homeobox 3 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:31,384,803...31,388,241 JBrowse link
G Irx5 iroquois homeobox 5 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 PMID:33891002 NCBI chr19:30,812,033...30,816,885 JBrowse link
G Irx6 iroquois homeobox 6 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 PMID:33891002 NCBI chr19:30,503,416...30,509,396 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 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 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 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 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 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 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 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 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 JBrowse link
G Mir140 microRNA 140 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:52,375,293...52,375,391 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 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 JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 PMID:33891002 NCBI chr19:30,327,643...30,355,856 JBrowse link
G Mt1 metallothionein 1 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:10,831,959...10,832,975 JBrowse link
G Mt1-ps3 metallothionein 1, pseudogene 3 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr17:79,695,812...79,696,200 JBrowse link
G Mt2A metallothionein 2A ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:10,837,934...10,838,708 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 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 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 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 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 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 chr19:52,108,982...52,196,418 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 chr19:50,870,464...50,944,992 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 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 chr19:34,649,803...34,722,846 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 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 JBrowse link
G Nod2 nucleotide-binding oligomerization domain containing 2 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:34,555,832...34,596,281 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 JBrowse link
G Nqo1 NAD(P)H quinone dehydrogenase 1 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:52,205,374...52,220,267 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 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 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 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 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 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 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 JBrowse link
G Pdpr pyruvate dehydrogenase phosphatase regulatory subunit ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:55,974,611...56,019,045 JBrowse link
G Phaf1 phagophore assembly factor 1 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:33,101,453...33,138,920 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 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 chr19:50,161,722...50,176,491 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 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 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 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 JBrowse link
G Pskh1 protein serine kinase H1 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:50,704,780...50,736,890 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 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 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 JBrowse link
G Rbl2 RB transcriptional corepressor like 2 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:32,049,690...32,096,467 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 chr19:50,387,447...50,416,323 JBrowse link
G Rpgrip1l Rpgrip1-like ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:31,865,050...31,957,930 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 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 JBrowse link
G Sall1 spalt-like transcription factor 1 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:34,179,316...34,196,278 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 chr19:9,349,011...9,356,515 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 JBrowse link
G Slc12a3 solute carrier family 12 member 3 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:10,636,594...10,690,008 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 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 JBrowse link
G Slc6a2 solute carrier family 6 member 2 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:30,183,289...30,228,292 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 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 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 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 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 JBrowse link
G Snx20 sorting nexin 20 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:34,609,397...34,618,569 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 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 chr19:55,798,112...55,849,226 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 JBrowse link
G Tent4b terminal nucleotidyltransferase 4B ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:34,984,244...35,042,423 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 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 JBrowse link
G Thap11 THAP domain containing 11 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:50,656,839...50,658,656 JBrowse link
G Tk2 thymidine kinase 2 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:713,043...737,345 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 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 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 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 JBrowse link
G Tradd TNFRSF1A-associated via death domain ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:50,046,057...50,048,158 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 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 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 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 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 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 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 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 JBrowse link
G Zfp423 zinc finger protein 423 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:35,282,149...35,580,775 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 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 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 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 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 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 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 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 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 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 2:212,849,470...212,986,730 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 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 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 2:212,849,470...212,986,730 JBrowse link
G Abhd12 abhydrolase domain containing 12, lysophospholipase ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:24697911 NCBI chr 3:160,119,724...160,179,959 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:22025579 More... NCBI chr 3:74,818,104...74,839,658 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 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 JBrowse link
G Cdhr1 cadherin-related family member 1 ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:25741868 PMID:26766544 PMID:27623334 PMID:28041643 PMID:28492532 More... NCBI chr16:12,843,436...12,863,321 JBrowse link
G Cerkl CERK like autophagy regulator ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:14681825 PMID:15708351 PMID:16199547 PMID:19578027 PMID:21151602 More... NCBI chr 3:84,641,121...84,747,999 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 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 JBrowse link
G Crb1 crumbs cell polarity complex component 1 ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:10508521 PMID:11231775 PMID:15623792 PMID:17128490 PMID:17297678 More... NCBI chr13:53,352,932...53,540,019 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 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 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 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 chr10:54,453,753...54,478,639 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 JBrowse link
G Mall mal, T-cell differentiation protein-like ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:28041643 NCBI chr 3:135,381,180...135,404,136 JBrowse link
G Mtln mitoregulin ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:28041643 NCBI chr 3:135,472,081...135,472,939 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 JBrowse link
G Nphp1 nephrocystin 1 ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:28041643 NCBI chr 3:135,413,927...135,469,505 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 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 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 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 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 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 JBrowse link
G Rpgrip1 RPGR interacting protein 1 ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:25741868 PMID:28492532 PMID:32531858 NCBI chr15:27,282,997...27,341,021 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 9:95,915,640...95,956,641 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 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 chr14:43,396,130...43,460,012 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 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:3182623 PMID:9536098 PMID:10393054 PMID:16199547 PMID:17576681 More... NCBI chr 1:235,909,583...235,965,435 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 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, Recessive | ClinVar Annotator: match by term: Cone-rod degeneration | ClinVar Annotator: match by term: Cone-rod dystrophy | ClinVar Annotator: match by term: Rod-cone 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:2964157 PMID:3002862 PMID:9054934 PMID:9295268 PMID:9466990 More... NCBI chr 2:212,849,470...212,986,730 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 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 chr16:73,725,186...73,804,284 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 1:17,580,859...17,711,775 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 4:119,683,085...119,783,471 JBrowse link
G Arl6 ARF like GTPase 6 ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:25741868 PMID:34828430 NCBI chr11:40,711,878...40,738,254 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 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 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:33668843 More... NCBI chr  X:14,868,096...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 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 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:9536098 PMID:16199547 PMID:17576681 PMID:23044944 PMID:23233793 More... NCBI chr16:12,843,436...12,863,321 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 7:37,196,765...37,285,955 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 1:222,674,193...222,702,124 JBrowse link
G Cerkl CERK like autophagy regulator ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:14681825 PMID:15708351 PMID:16199547 PMID:19578027 PMID:21151602 More... NCBI chr 3:84,641,121...84,747,999 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 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 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 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 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 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 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 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:32531858 PMID:36909829 More... RGD:13451130 NCBI chr13:53,352,932...53,540,019 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, Recessive | ClinVar Annotator: match by term: Cone-rod dystrophy
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:9792858 PMID:10874321 PMID:10916183 More... NCBI chr 1:76,539,812...76,553,694 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 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 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 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 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 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 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:15175914 More... NCBI chr10:54,453,753...54,478,639 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 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 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 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 3:29,614,868...29,627,542 JBrowse link
G Itga4 integrin subunit alpha 4 ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:25741868 PMID:28492532 PMID:32531858 NCBI chr 3:84,569,487...84,646,276 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 6:95,358,682...95,461,911 JBrowse link
G Lrat lecithin retinol acyltransferase ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:25741868 NCBI chr 2:170,562,148...170,571,212 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 chr18:62,689,798...62,691,685 JBrowse link
G Mfsd8 major facilitator superfamily domain containing 8 ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:25741868 PMID:30543658 PMID:36909829 NCBI chr 2:123,822,042...123,847,808 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 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...
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
NCBI chr MT:7,758...7,961
NCBI chr MT:7,758...7,961
NCBI 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...
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...
G Mt-co3 mitochondrially encoded cytochrome c oxidase III ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More...
G Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 ISO ClinVar Annotator: match by term: Rod-cone 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
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
NCBI chr MT:3,904...4,942
NCBI chr MT:3,904...4,942
NCBI 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
NCBI chr MT:9,451...9,798
NCBI chr MT:9,451...9,798
NCBI 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
NCBI chr MT:10,160...11,537
NCBI chr MT:10,160...11,537
NCBI 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
NCBI chr MT:9,870...10,166
NCBI chr MT:9,870...10,166
NCBI 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
NCBI chr MT:11,736...13,565
NCBI chr MT:11,736...13,565
NCBI 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 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