|
G |
Abat |
4-aminobutyrate aminotransferase |
|
ISO |
|
RGD |
PMID:18412635 |
RGD:9588533 |
NCBI chr10:7,503,351...7,599,474
|
|
G |
Apoe |
apolipoprotein E |
susceptibility |
ISO |
|
RGD |
PMID:17562993 |
RGD:7495760 |
NCBI chr 1:88,481,889...88,485,816
|
|
G |
Aqp4 |
aquaporin 4 |
|
IEP |
|
RGD |
PMID:18836575 |
RGD:5490154 |
NCBI chr18:6,782,389...6,799,034
|
|
G |
Atxn1 |
ataxin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28182653 |
|
NCBI chr17:18,943,397...19,354,751
|
|
G |
Casp3 |
caspase 3 |
|
IEP |
protein:increased expression:retina |
RGD |
PMID:18836575 |
RGD:5490154 |
NCBI chr16:52,395,539...52,413,794
|
|
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
|
|
G |
Cdh23 |
cadherin-related 23 |
|
ISO |
|
RGD |
PMID:14609561 |
RGD:8662280 |
NCBI chr20:28,783,124...29,165,624
|
|
G |
Cep290 |
centrosomal protein 290 |
|
ISO |
ClinVar Annotator: match by term: Retinal Diseases |
ClinVar |
PMID:9536098 PMID:17576681 PMID:19959640 PMID:21153841 PMID:25741868 PMID:26529047 PMID:28492532 PMID:28559085 PMID:33749171 PMID:37510321 More...
|
|
NCBI chr 7:37,196,765...37,285,955
|
|
G |
Chat |
choline O-acetyltransferase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23075401 |
|
NCBI chr16:7,657,362...7,717,093
|
|
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
|
|
G |
Epas1 |
endothelial PAS domain protein 1 |
|
ISO |
|
RGD |
PMID:14608355 |
RGD:734934 |
NCBI chr 6:13,543,252...13,626,147
|
|
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
|
|
G |
Fzd4 |
frizzled class receptor 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17103440 |
|
NCBI chr 1:143,279,934...143,288,799
|
|
G |
Gfap |
glial fibrillary acidic protein |
|
IEP |
protein:increased expression:retina |
RGD |
PMID:18836575 |
RGD:5490154 |
NCBI chr10:88,352,987...88,361,661
|
|
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
|
|
G |
Hmox1 |
heme oxygenase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23075401 |
|
NCBI chr19:13,452,365...13,479,823
|
|
G |
Icam1 |
intercellular adhesion molecule 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19324842 |
|
NCBI chr 8:27,829,688...27,841,618
|
|
G |
Il10 |
interleukin 10 |
treatment |
ISO |
|
RGD |
PMID:23720065 PMID:21273540 |
RGD:7364808, RGD:7364850 |
NCBI chr13:45,024,921...45,029,586
|
|
G |
Inpp1 |
inositol polyphosphate-1-phosphatase |
|
ISO |
ClinVar Annotator: match by term: Retinal Diseases |
ClinVar |
|
|
NCBI chr 9:56,161,816...56,209,774
|
|
G |
Map2k3 |
mitogen activated protein kinase kinase 3 |
treatment |
IDA |
|
RGD |
PMID:16805832 |
RGD:7495810 |
NCBI chr10:46,107,639...46,128,986
|
|
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
|
|
G |
Mir182 |
microRNA 182 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27208084 |
|
NCBI chr 4:58,784,818...58,784,879
|
|
G |
Mir183 |
microRNA 183 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27208084 |
|
NCBI chr 4:58,788,614...58,788,723
|
|
G |
Mir96 |
microRNA 96 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27208084 |
|
NCBI chr 4:58,788,411...58,788,516
|
|
G |
Mmp9 |
matrix metallopeptidase 9 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23075401 |
|
NCBI chr 3:174,103,474...174,111,434
|
|
G |
Mthfr |
methylenetetrahydrofolate reductase |
|
ISO |
|
RGD |
PMID:20532821 |
RGD:7387239 |
NCBI chr 5:163,748,346...163,768,141
|
|
G |
Mtnr1a |
melatonin receptor 1A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21915336 |
|
NCBI chr16:47,144,461...47,163,919
|
|
G |
Nek9 |
NIMA-related kinase 9 |
|
ISO |
ClinVar Annotator: match by term: Retinal Diseases |
ClinVar |
|
|
NCBI chr 6:110,675,107...110,715,586
|
|
G |
Nos2 |
nitric oxide synthase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23075401 |
|
NCBI chr10:64,313,335...64,349,221
|
|
G |
Ocln |
occludin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19324842 |
|
NCBI chr 2:33,391,303...33,442,207
|
|
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
|
|
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
|
|
G |
Prph2 |
peripherin 2 |
|
IEP |
|
RGD |
PMID:8320859 |
RGD:8553226 |
NCBI chr 9:14,066,149...14,081,454
|
|
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
|
|
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
|
|
G |
Sirt1 |
sirtuin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23217256 |
|
NCBI chr20:25,305,953...25,328,000
|
|
G |
Tenm4 |
teneurin transmembrane protein 4 |
|
ISO |
ClinVar Annotator: match by term: Retinal Diseases |
ClinVar |
|
|
NCBI chr 1:149,895,097...151,263,315
|
|
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
|
|
G |
Tnf |
tumor necrosis factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19324842 |
|
NCBI chr20:3,626,685...3,629,303
|
|
G |
Ttpa |
alpha tocopherol transfer protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11752462 |
|
NCBI chr 5:33,497,537...33,518,936
|
|
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
|
|
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
|
|
G |
Vim |
vimentin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23075401 |
|
NCBI chr17:81,577,261...81,585,746
|
|
G |
Vsx1 |
visual system homeobox 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15051220 |
|
NCBI chr 3:139,514,270...139,521,869
|
|
|
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
|
|
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
|
|
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
|
|
|
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 PMID:9490294 PMID:9503029 PMID:9536098 PMID:9666097 PMID:9781034 PMID:9973280 PMID:10090887 PMID:10206579 PMID:10396622 PMID:10413692 PMID:10458172 PMID:10612508 PMID:10634594 PMID:10634626 PMID:10711710 PMID:10880298 PMID:10958761 PMID:10958763 PMID:11017087 PMID:11123914 PMID:11328725 PMID:11379881 PMID:11385708 PMID:11444963 PMID:11527935 PMID:11594993 PMID:11687513 PMID:11702214 PMID:11726554 PMID:11919200 PMID:11973624 PMID:12037008 PMID:12192456 PMID:12515255 PMID:12592048 PMID:12796258 PMID:14517951 PMID:15108289 PMID:15161829 PMID:15192030 PMID:15494742 PMID:15516930 PMID:15579991 PMID:15614537 PMID:16103129 PMID:16199547 PMID:16303926 PMID:16400609 PMID:16533065 PMID:16546111 PMID:16682602 PMID:16703556 PMID:17277736 PMID:17296903 PMID:17325136 PMID:17562343 PMID:17576681 PMID:17724221 PMID:17982420 PMID:18024811 PMID:18161617 PMID:18285826 PMID:18334942 PMID:18414213 PMID:18652558 PMID:18854780 PMID:18977788 PMID:19074458 PMID:19217903 PMID:19243736 PMID:19265867 PMID:19365591 PMID:20029649 PMID:20128570 PMID:20220177 PMID:20335603 PMID:20404325 PMID:20647261 PMID:20696155 PMID:20981092 PMID:21293320 PMID:21330655 PMID:21786275 PMID:21873672 PMID:21911583 PMID:22025579 PMID:22229821 PMID:22247458 PMID:22264887 PMID:22312191 PMID:22328824 PMID:22427542 PMID:22449572 PMID:22589445 PMID:22661472 PMID:22661473 PMID:22735453 PMID:22968130 PMID:22995991 PMID:23096905 PMID:23143460 PMID:23144455 PMID:23419329 PMID:23443024 PMID:23499370 PMID:23591405 PMID:23695285 PMID:23755871 PMID:23769331 PMID:23776498 PMID:23918662 PMID:23940504 PMID:23953153 PMID:23982839 PMID:24033266 PMID:24082139 PMID:24097981 PMID:24154662 PMID:24265693 PMID:24273789 PMID:24342785 PMID:24409374 PMID:24444108 PMID:24453473 PMID:24509150 PMID:24713488 PMID:24743636 PMID:24938718 PMID:25066811 PMID:25082885 PMID:25087612 PMID:25097241 PMID:25283059 PMID:25301883 PMID:25312043 PMID:25333069 PMID:25346251 PMID:25356976 PMID:25412400 PMID:25472526 PMID:25474345 PMID:25525159 PMID:25544989 PMID:25640233 PMID:25698705 PMID:25712131 PMID:25741868 PMID:25910913 PMID:25921964 PMID:25922843 PMID:25999674 PMID:26092729 PMID:26103963 PMID:26161775 PMID:26229699 PMID:26247787 PMID:26261413 PMID:26355662 PMID:26527198 PMID:26593885 PMID:26720470 PMID:26743751 PMID:26780318 PMID:26872967 PMID:26976702 PMID:27014590 PMID:27030965 PMID:27032803 PMID:27367509 PMID:27535533 PMID:27596865 PMID:27739528 PMID:27775217 PMID:27820952 PMID:27884173 PMID:27939946 PMID:28041643 PMID:28044389 PMID:28118664 PMID:28130426 PMID:28157192 PMID:28181551 PMID:28224992 PMID:28327576 PMID:28341476 PMID:28355279 PMID:28365912 PMID:28446513 PMID:28492530 PMID:28492532 PMID:28512305 PMID:28559085 PMID:28571903 PMID:28611652 PMID:28771251 PMID:28838317 PMID:28947085 PMID:29068140 PMID:29099798 PMID:29114839 PMID:29145636 PMID:29162642 PMID:29186038 PMID:29207047 PMID:29310964 PMID:29343940 PMID:29422768 PMID:29431110 PMID:29461686 PMID:29555955 PMID:29641573 PMID:29736279 PMID:29765157 PMID:29769798 PMID:29847635 PMID:29847651 PMID:29848554 PMID:29854428 PMID:29925512 PMID:29971439 PMID:29975949 PMID:30054919 PMID:30060493 PMID:30093795 PMID:30156925 PMID:30190494 PMID:30204727 PMID:30215852 PMID:30337596 PMID:30480703 PMID:30480704 PMID:30563929 PMID:30576320 PMID:30609409 PMID:30643219 PMID:30653986 PMID:30670881 PMID:30718709 PMID:30798147 PMID:30834176 PMID:30924848 PMID:30945053 PMID:31015497 PMID:31129250 PMID:31180159 PMID:31212395 PMID:31213501 PMID:31216405 PMID:31429209 PMID:31456290 PMID:31522899 PMID:31573552 PMID:31576780 PMID:31589614 PMID:31614660 PMID:31618761 PMID:31725702 PMID:31736247 PMID:31766579 PMID:31814694 PMID:31816670 PMID:31877759 PMID:31963381 PMID:31964843 PMID:31968401 PMID:31980526 PMID:32000842 PMID:32013026 PMID:32036094 PMID:32037395 PMID:32090030 PMID:32141364 PMID:32235935 PMID:32244552 PMID:32278709 PMID:32307445 PMID:32413971 PMID:32467599 PMID:32483926 PMID:32531858 PMID:32581362 PMID:32619608 PMID:32783370 PMID:32810830 PMID:32815999 PMID:32821503 PMID:32845050 PMID:32845068 PMID:32913387 PMID:33090715 PMID:33129279 PMID:33223529 PMID:33261146 PMID:33301772 PMID:33302505 PMID:33369172 PMID:33375396 PMID:33505770 PMID:33546218 PMID:33633436 PMID:33691693 PMID:33706644 PMID:33724725 PMID:33732702 PMID:33749171 PMID:33781268 PMID:33841504 PMID:33846575 PMID:33851411 PMID:33909047 PMID:33988224 PMID:34008801 PMID:34008892 PMID:34198153 PMID:34214897 PMID:34216551 PMID:34240658 PMID:34313030 PMID:34315337 PMID:34321860 PMID:34327195 PMID:34426522 PMID:34440443 PMID:34570182 PMID:34647987 PMID:34758253 PMID:34795310 PMID:34906470 PMID:34946930 PMID:34996991 PMID:35055178 PMID:35076026 PMID:35112029 PMID:35119454 PMID:35194496 PMID:35243166 PMID:35260635 PMID:35409265 PMID:35413457 PMID:35456422 PMID:35476365 PMID:35656873 PMID:35657619 PMID:35753512 PMID:35836572 PMID:35886001 PMID:35903041 PMID:36209838 PMID:36284460 PMID:36284670 PMID:36338671 PMID:36460718 PMID:36471740 PMID:36672815 PMID:36819107 PMID:36909829 PMID:36910710 PMID:38054408 PMID:92952680 More...
|
|
NCBI chr 2:212,849,470...212,986,730
|
|
G |
Ccl2 |
C-C motif chemokine ligand 2 |
|
ISS |
|
MouseDO |
|
|
NCBI chr10:67,503,077...67,504,875
|
|
G |
Ccr2 |
C-C motif chemokine receptor 2 |
|
ISS |
|
MouseDO |
|
|
NCBI chr 8:132,611,883...132,619,106
|
|
G |
Cd46 |
CD46 molecule |
|
ISS |
|
MouseDO |
|
|
NCBI chr13:109,104,122...109,134,903
|
|
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
|
|
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 PMID:25741868 PMID:28492532 PMID:37761846 More...
|
|
NCBI chr 6:120,899,219...120,977,829
|
|
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
|
|
G |
Ppargc1a |
PPARG coactivator 1 alpha |
|
ISS |
|
MouseDO |
|
|
NCBI chr14:63,073,505...63,729,215
|
|
|
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 PMID:25741868 PMID:28492532 PMID:32808727 PMID:35120450 PMID:35460704 PMID:35628605 PMID:35639372 PMID:37128917 More...
|
|
NCBI chr 1:88,481,889...88,485,816
|
|
G |
Cfhr1 |
complement factor H-related 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD OMIM |
|
|
NCBI chr13:51,395,583...51,410,571
|
|
G |
Cryba1 |
crystallin, beta A1 |
|
ISS |
OMIM:603075 |
MouseDO |
|
|
NCBI chr10:62,608,373...62,614,726
|
|
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 PMID:25133751 PMID:25338956 PMID:25741868 PMID:25986072 PMID:27007659 PMID:28492532 More...
|
|
NCBI chr13:65,165,532...65,634,681
|
|
G |
Vldlr |
very low density lipoprotein receptor |
|
ISS |
OMIM:603075 |
MouseDO |
|
|
NCBI chr 1:234,239,769...234,272,150
|
|
|
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
|
|
|
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
|
|
|
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 PMID:16621965 PMID:17084897 PMID:17576681 PMID:17597211 PMID:18374984 PMID:19065647 PMID:19861685 PMID:19877009 PMID:20016463 PMID:20106822 PMID:20203157 PMID:20301541 PMID:20513133 PMID:22710145 PMID:23421077 PMID:23431077 PMID:23685748 PMID:24033266 PMID:24036952 PMID:25741868 PMID:25788521 PMID:25899302 PMID:25986072 PMID:26826462 PMID:27268256 PMID:27939104 PMID:28282489 PMID:28455885 PMID:28492532 PMID:28750931 PMID:29500241 PMID:29566171 PMID:29888403 PMID:29940891 PMID:30890598 PMID:31049720 PMID:31231365 PMID:31440263 PMID:32510551 PMID:32853637 PMID:32908800 PMID:33712733 PMID:33841858 PMID:34153144 PMID:34169201 PMID:34272986 PMID:35069568 PMID:35253925 PMID:35526386 PMID:35531992 PMID:35619721 PMID:36793547 More...
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NCBI chr 2:218,389,079...218,430,565
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G |
Abca4 |
ATP binding cassette subfamily A member 4 |
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ISO |
ClinVar Annotator: match by term: MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF |
ClinVar |
PMID:3002862 PMID:9054934 PMID:9973280 PMID:10090887 PMID:10612508 PMID:10634594 PMID:10880298 PMID:11017087 PMID:11444963 PMID:11726554 PMID:11919200 PMID:11973624 PMID:12037008 PMID:12192456 PMID:15516930 PMID:16400609 PMID:18285826 PMID:18977788 PMID:19217903 PMID:20981092 PMID:22264887 PMID:22589445 PMID:23144455 PMID:23695285 PMID:23953153 PMID:24033266 PMID:24082139 PMID:24154662 PMID:24409374 PMID:24713488 PMID:25082885 PMID:25097241 PMID:25283059 PMID:25333069 PMID:25741868 PMID:26247787 PMID:28041643 PMID:28044389 PMID:28118664 PMID:28341476 PMID:28446513 PMID:28492532 PMID:28559085 PMID:29162642 PMID:29310964 PMID:29343940 PMID:29431110 PMID:29555955 PMID:29925512 PMID:30215852 PMID:30609409 PMID:30643219 PMID:30718709 PMID:31429209 PMID:31456290 PMID:31522899 PMID:31589614 PMID:31816670 PMID:31964843 PMID:31980526 PMID:32013026 PMID:32036094 PMID:32037395 PMID:32278709 PMID:32307445 PMID:32467599 PMID:32531858 PMID:32581362 PMID:32619608 PMID:32815999 PMID:32845050 PMID:32913387 PMID:33505770 PMID:33706644 PMID:34426522 PMID:34570182 PMID:34906470 PMID:35076026 PMID:35119454 PMID:35657619 PMID:35753512 PMID:35886001 PMID:36460718 PMID:36672815 More...
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NCBI chr 2:212,849,470...212,986,730
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G |
C2 |
complement C2 |
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ISO |
ClinVar Annotator: match by term: Age related macular degeneration 14 |
OMIM ClinVar |
PMID:2249879 PMID:6308626 PMID:8181962 PMID:9536098 PMID:9670930 PMID:16518403 PMID:16936732 PMID:17576681 PMID:18806293 PMID:20108004 PMID:20513133 PMID:21541267 PMID:22440158 PMID:24033266 PMID:24652797 PMID:25741868 PMID:28492532 PMID:32113979 PMID:34899688 More...
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NCBI chr20:3,951,474...3,970,376
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G |
Cfb |
complement factor B |
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ISO |
ClinVar Annotator: match by term: Age related macular degeneration 14 |
ClinVar OMIM |
PMID:2249879 PMID:6308626 PMID:8181962 PMID:16518403 PMID:16936732 PMID:18806293 PMID:20108004 PMID:20513133 PMID:21541267 PMID:22440158 PMID:24033266 PMID:24652797 PMID:24799305 PMID:24906628 PMID:25741868 PMID:28492532 PMID:35267578 PMID:36591303 More...
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NCBI chr20:3,970,643...3,976,510
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G |
Fbln5 |
fibulin 5 |
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ISO |
ClinVar Annotator: match by term: MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF |
ClinVar |
PMID:15269314 PMID:16652333 PMID:20007835 PMID:28492532 |
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NCBI chr 6:120,899,219...120,977,829
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G |
C9 |
complement C9 |
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ISO |
ClinVar Annotator: match by term: Age related macular degeneration 15 |
ClinVar OMIM |
PMID:2241452 PMID:9144525 PMID:9182899 PMID:9570574 PMID:9634479 PMID:24036952 PMID:25741868 PMID:28492532 PMID:28617419 More...
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NCBI chr 2:57,300,510...57,348,759
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G |
Abca4 |
ATP binding cassette subfamily A member 4 |
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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 PMID:9490294 PMID:9503029 PMID:9536098 PMID:9666097 PMID:9781034 PMID:9973280 PMID:10090887 PMID:10206579 PMID:10396622 PMID:10413692 PMID:10458172 PMID:10612508 PMID:10634594 PMID:10634626 PMID:10711710 PMID:10880298 PMID:10958761 PMID:10958763 PMID:11017087 PMID:11123914 PMID:11328725 PMID:11346402 PMID:11379881 PMID:11385708 PMID:11444963 PMID:11527935 PMID:11594993 PMID:11687513 PMID:11702214 PMID:11726554 PMID:11919200 PMID:11973624 PMID:12037008 PMID:12192456 PMID:12515255 PMID:12592048 PMID:12796258 PMID:14517951 PMID:15108289 PMID:15161829 PMID:15192030 PMID:15494742 PMID:15516930 PMID:15579991 PMID:15614537 PMID:16103129 PMID:16199547 PMID:16303926 PMID:16400609 PMID:16533065 PMID:16546111 PMID:16682602 PMID:16703556 PMID:17277736 PMID:17296903 PMID:17325136 PMID:17562343 PMID:17576681 PMID:17724221 PMID:17982420 PMID:18024811 PMID:18161617 PMID:18285826 PMID:18334942 PMID:18414213 PMID:18652558 PMID:18854780 PMID:18977788 PMID:19074458 PMID:19217903 PMID:19243736 PMID:19265867 PMID:19365591 PMID:20029649 PMID:20128570 PMID:20220177 PMID:20335603 PMID:20404325 PMID:20554613 PMID:20647261 PMID:20696155 PMID:20981092 PMID:21293320 PMID:21330655 PMID:21786275 PMID:21873672 PMID:21911583 PMID:22025579 PMID:22229821 PMID:22247458 PMID:22264887 PMID:22312191 PMID:22328824 PMID:22427542 PMID:22449572 PMID:22589445 PMID:22661472 PMID:22661473 PMID:22735453 PMID:22968130 PMID:22995991 PMID:23096905 PMID:23143460 PMID:23144455 PMID:23419329 PMID:23443024 PMID:23499370 PMID:23591405 PMID:23695285 PMID:23755871 PMID:23769331 PMID:23776498 PMID:23918662 PMID:23940504 PMID:23953153 PMID:23982839 PMID:24033266 PMID:24082139 PMID:24097981 PMID:24154662 PMID:24265693 PMID:24273789 PMID:24342785 PMID:24409374 PMID:24444108 PMID:24453473 PMID:24509150 PMID:24550365 PMID:24713488 PMID:24743636 PMID:24938718 PMID:25066811 PMID:25082885 PMID:25087612 PMID:25097241 PMID:25283059 PMID:25301883 PMID:25312043 PMID:25333069 PMID:25346251 PMID:25356976 PMID:25412400 PMID:25472526 PMID:25474345 PMID:25525159 PMID:25544989 PMID:25640233 PMID:25698705 PMID:25712131 PMID:25741868 PMID:25910913 PMID:25921964 PMID:25922843 PMID:25999674 PMID:26092729 PMID:26103963 PMID:26161775 PMID:26229699 PMID:26247787 PMID:26261413 PMID:26355662 PMID:26527198 PMID:26593885 PMID:26720470 PMID:26743751 PMID:26780318 PMID:26872967 PMID:26976702 PMID:27014590 PMID:27030965 PMID:27032803 PMID:27367509 PMID:27535533 PMID:27583828 PMID:27596865 PMID:27739528 PMID:27775217 PMID:27820952 PMID:27884173 PMID:27939946 PMID:28041643 PMID:28044389 PMID:28118664 PMID:28130426 PMID:28157192 PMID:28181551 PMID:28224992 PMID:28327206 PMID:28327576 PMID:28341476 PMID:28355279 PMID:28365912 PMID:28446513 PMID:28492530 PMID:28492532 PMID:28512305 PMID:28559085 PMID:28571903 PMID:28611652 PMID:28771251 PMID:28838317 PMID:28947085 PMID:29068140 PMID:29099798 PMID:29114839 PMID:29145636 PMID:29162642 PMID:29178665 PMID:29186038 PMID:29207047 PMID:29310964 PMID:29422768 PMID:29431110 PMID:29461686 PMID:29555955 PMID:29641573 PMID:29706639 PMID:29736279 PMID:29765157 PMID:29769798 PMID:29847635 PMID:29847651 PMID:29848554 PMID:29854428 PMID:29925512 PMID:29971439 PMID:29975949 PMID:30054919 PMID:30060493 PMID:30093795 PMID:30156925 PMID:30190494 PMID:30204727 PMID:30215852 PMID:30337596 PMID:30480703 PMID:30480704 PMID:30563929 PMID:30576320 PMID:30609409 PMID:30643219 PMID:30653986 PMID:30670881 PMID:30718709 PMID:30798147 PMID:30834176 PMID:30924848 PMID:30945053 PMID:31015497 PMID:31129250 PMID:31180159 PMID:31212395 PMID:31213501 PMID:31216405 PMID:31429209 PMID:31456290 PMID:31522899 PMID:31573552 PMID:31576780 PMID:31589614 PMID:31614660 PMID:31618761 PMID:31725702 PMID:31736247 PMID:31766579 PMID:31814694 PMID:31816670 PMID:31877759 PMID:31963381 PMID:31964843 PMID:31968401 PMID:31980526 PMID:32000842 PMID:32036094 PMID:32037395 PMID:32090030 PMID:32141364 PMID:32235935 PMID:32244552 PMID:32278709 PMID:32307445 PMID:32413971 PMID:32467599 PMID:32483926 PMID:32531858 PMID:32581362 PMID:32619608 PMID:32783370 PMID:32810830 PMID:32815999 PMID:32821503 PMID:32845050 PMID:32845068 PMID:32913387 PMID:33090715 PMID:33129279 PMID:33223529 PMID:33261146 PMID:33301772 PMID:33302505 PMID:33369172 PMID:33375396 PMID:33546218 PMID:33633436 PMID:33691693 PMID:33706644 PMID:33724725 PMID:33732702 PMID:33749171 PMID:33781268 PMID:33841504 PMID:33846575 PMID:33851411 PMID:33909047 PMID:33988224 PMID:34008801 PMID:34008892 PMID:34198153 PMID:34214897 PMID:34216551 PMID:34240658 PMID:34313030 PMID:34315337 PMID:34321860 PMID:34327195 PMID:34426522 PMID:34440443 PMID:34570182 PMID:34647987 PMID:34758253 PMID:34795310 PMID:34906470 PMID:34946930 PMID:34996991 PMID:35055178 PMID:35076026 PMID:35112029 PMID:35119454 PMID:35194496 PMID:35243166 PMID:35260635 PMID:35409265 PMID:35413457 PMID:35456422 PMID:35476365 PMID:35656873 PMID:35657619 PMID:35753512 PMID:35836572 PMID:35886001 PMID:35903041 PMID:36209838 PMID:36284460 PMID:36284670 PMID:36338671 PMID:36460718 PMID:36471740 PMID:36672815 PMID:36819107 PMID:36909829 PMID:36910710 PMID:38054408 PMID:92952680 More...
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NCBI chr 2:212,849,470...212,986,730
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G |
Fbln5 |
fibulin 5 |
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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 PMID:19194475 PMID:20007835 PMID:20599547 PMID:21576112 PMID:23328402 PMID:24033266 PMID:25741868 PMID:28332470 PMID:28492532 PMID:28765615 PMID:29653220 PMID:30544257 PMID:31945625 PMID:32757322 PMID:32802946 PMID:37761846 More...
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NCBI chr 6:120,899,219...120,977,829
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G |
Cfh |
complement factor H |
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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 PMID:10762557 PMID:11158219 PMID:11170895 PMID:11170896 PMID:11851332 PMID:11978762 PMID:12424708 PMID:12697737 PMID:14583443 PMID:14978182 PMID:15761120 PMID:15761121 PMID:15761122 PMID:15870199 PMID:15895326 PMID:16229850 PMID:16299065 PMID:16338962 PMID:16470555 PMID:16601698 PMID:16619239 PMID:16621965 PMID:16630992 PMID:16710702 PMID:16787919 PMID:16816528 PMID:16936732 PMID:16936733 PMID:17018561 PMID:17076561 PMID:17079491 PMID:17089378 PMID:17198853 PMID:17210858 PMID:17241667 PMID:17293598 PMID:17360715 PMID:17396242 PMID:17398321 PMID:17472578 PMID:17576681 PMID:17599974 PMID:17947292 PMID:18235085 PMID:18252232 PMID:18252712 PMID:18557729 PMID:19190809 PMID:19259132 PMID:19297022 PMID:19454698 PMID:19633317 PMID:20016463 PMID:20059470 PMID:20203157 PMID:20301541 PMID:20513133 PMID:20660596 PMID:21317894 PMID:21415311 PMID:21670343 PMID:21909106 PMID:21930971 PMID:21979047 PMID:22019782 PMID:22171659 PMID:22223606 PMID:22389686 PMID:22403278 PMID:22410797 PMID:22456601 PMID:22594991 PMID:22669321 PMID:23235567 PMID:23307876 PMID:23431077 PMID:23685748 PMID:23852337 PMID:23870792 PMID:24036949 PMID:24036952 PMID:24333077 PMID:24498017 PMID:24906858 PMID:25037630 PMID:25087612 PMID:25188723 PMID:25741868 PMID:25814826 PMID:25880396 PMID:26215151 PMID:26283675 PMID:26376859 PMID:26501415 PMID:26559391 PMID:26613026 PMID:26691988 PMID:26826462 PMID:27572114 PMID:27718086 PMID:27939104 PMID:28011711 PMID:28492532 PMID:28596415 PMID:28859202 PMID:28941939 PMID:29410599 PMID:29500241 PMID:29511899 PMID:29686068 PMID:29888403 PMID:30046676 PMID:30295827 PMID:30560448 PMID:30674459 PMID:31447099 PMID:31575699 PMID:31589614 PMID:32185379 PMID:33519811 PMID:34169201 PMID:34189567 PMID:34260947 PMID:34508573 PMID:34714369 PMID:34748552 PMID:34912830 PMID:35925583 PMID:35930268 PMID:36246952 PMID:36445700 More...
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NCBI chr13:51,512,376...51,613,829
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G |
Ercc6 |
ERCC excision repair 6, chromatin remodeling factor |
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ISO |
ClinVar Annotator: match by term: Age related macular degeneration 5 |
ClinVar OMIM |
PMID:9443879 PMID:9536098 PMID:10196384 PMID:10767341 PMID:16754848 PMID:17576681 PMID:17854076 PMID:18414213 PMID:18628313 PMID:18784753 PMID:19894250 PMID:21143350 PMID:21228398 PMID:22661500 PMID:22904069 PMID:23311583 PMID:23422418 PMID:24154677 PMID:25026993 PMID:25136123 PMID:25326635 PMID:25741868 PMID:25820262 PMID:27004399 PMID:27356891 PMID:28492532 PMID:29572252 PMID:30111349 PMID:35135151 PMID:36099812 PMID:38177409 More...
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NCBI chr16:7,771,311...7,841,895
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G |
C3 |
complement C3 |
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ISO |
DNA:SNPs, haplotype: :multiple |
RGD |
PMID:19899988 |
RGD:7401252 |
NCBI chr 9:2,174,412...2,201,339
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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
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G |
Dct |
dopachrome tautomerase |
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ISO |
ClinVar Annotator: match by term: Age related macular degeneration 7 |
ClinVar |
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NCBI chr15:101,469,159...101,508,029
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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 PMID:19259132 PMID:19387015 PMID:25741868 PMID:28492532 PMID:29895533 PMID:30068478 PMID:31719132 PMID:34510819 PMID:34626176 PMID:18207215 PMID:18436811 PMID:19796758 PMID:19933195 PMID:20157352 More...
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RGD:7394722, RGD:7394721, RGD:7394719, RGD:7394713, RGD:7387295 |
NCBI chr 1:185,497,815...185,547,380
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G |
Mc1r |
melanocortin 1 receptor |
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ISO |
ClinVar Annotator: match by term: Macular degeneration, age-related, neovascular type |
ClinVar |
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NCBI chr19:68,360,950...68,363,877
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G |
C3 |
complement C3 |
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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 PMID:16687714 PMID:17576681 PMID:17634448 PMID:17767156 PMID:18325906 PMID:18796626 PMID:19168221 PMID:19259132 PMID:19590060 PMID:20595690 PMID:20664795 PMID:21501302 PMID:21576320 PMID:21810760 PMID:22594991 PMID:22669319 PMID:22673887 PMID:22718507 PMID:23112567 PMID:23307876 PMID:23314101 PMID:23431077 PMID:23455636 PMID:23847193 PMID:24029428 PMID:24036949 PMID:24036950 PMID:24036952 PMID:24736606 PMID:24845532 PMID:25188723 PMID:25431709 PMID:25608561 PMID:25741868 PMID:25951460 PMID:26283675 PMID:26613027 PMID:26767664 PMID:26830967 PMID:27722136 PMID:28011711 PMID:28492532 PMID:28596415 PMID:28752844 PMID:28939980 PMID:29410599 PMID:29500241 PMID:29566171 PMID:29670616 PMID:29888403 PMID:30046676 PMID:30131807 PMID:30377230 PMID:30890598 PMID:31042289 PMID:32424742 PMID:32950058 PMID:33213850 PMID:33609329 PMID:34169201 PMID:34631043 PMID:34714369 PMID:34748552 PMID:34973142 PMID:35295324 PMID:35373096 PMID:35685318 PMID:37466676 More...
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NCBI chr 9:2,174,412...2,201,339
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G |
Cabp4 |
calcium binding protein 4 |
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ISO |
ClinVar Annotator: match by term: Aland island eye disease |
ClinVar |
PMID:30718709 |
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NCBI chr 1:201,428,671...201,442,950
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G |
Cacna1f |
calcium voltage-gated channel subunit alpha1 F |
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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 PMID:22183355 PMID:22194652 PMID:24124559 PMID:25307992 PMID:25741868 PMID:26747767 PMID:26992781 PMID:28002560 PMID:28341476 PMID:28492532 PMID:28838317 PMID:30718709 PMID:30825406 PMID:33668843 PMID:17525176 More...
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RGD:13782379 |
NCBI chr X:14,868,096...14,896,413
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G |
Whrn |
whirlin |
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ISO |
ClinVar Annotator: match by term: Aland island eye disease |
ClinVar |
PMID:3442652 PMID:25741868 PMID:28492532 PMID:30718709 |
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NCBI chr 5:76,828,308...76,911,945
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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 PMID:9536098 PMID:11941369 PMID:11941370 PMID:15689433 PMID:16199547 PMID:16720663 PMID:17576681 PMID:17594715 PMID:17850632 PMID:18038714 PMID:18154657 PMID:18195218 PMID:18414213 PMID:18654604 PMID:19283855 PMID:19763152 PMID:20307669 PMID:21128906 PMID:21157496 PMID:21158358 PMID:21541333 PMID:21877133 PMID:21897446 PMID:21901789 PMID:21943378 PMID:22406018 PMID:22447358 PMID:22498418 PMID:22533542 PMID:22555271 PMID:22773737 PMID:22876109 PMID:23033341 PMID:23188138 PMID:23571587 PMID:23661369 PMID:23847139 PMID:24033266 PMID:24049434 PMID:24257694 PMID:24400638 PMID:24462884 PMID:24503146 PMID:24534407 PMID:24595103 PMID:24690487 PMID:24830966 PMID:25268133 PMID:25296579 PMID:25468891 PMID:25469153 PMID:25533962 PMID:25640679 PMID:25706677 PMID:25741868 PMID:25846608 PMID:25864795 PMID:25999675 PMID:26010121 PMID:26047050 PMID:26066530 PMID:26077327 PMID:26082521 PMID:26104972 PMID:26111748 PMID:26239645 PMID:26283575 PMID:26285675 PMID:26467025 PMID:26496393 PMID:26566502 PMID:26633542 PMID:26636822 PMID:26704672 PMID:26992781 PMID:27178444 PMID:27260402 PMID:27375279 PMID:27486776 PMID:27523285 PMID:27665122 PMID:28112973 PMID:28145517 PMID:28402684 PMID:28432734 PMID:28456785 PMID:28492532 PMID:28502102 PMID:28518168 PMID:28573831 PMID:28717663 PMID:28724398 PMID:28912962 PMID:29079548 PMID:29193673 PMID:29302074 PMID:29345162 PMID:29588463 PMID:29590070 PMID:29610177 PMID:29681726 PMID:29715191 PMID:29718281 PMID:29961767 PMID:29970176 PMID:29976977 PMID:30029497 PMID:30054919 PMID:30064963 PMID:30311386 PMID:30421101 PMID:30488743 PMID:30513137 PMID:30532227 PMID:30600744 PMID:31106028 PMID:31308072 PMID:31456290 PMID:31607746 PMID:31624253 PMID:31630094 PMID:31638414 PMID:31755649 PMID:31810438 PMID:31898538 PMID:32037395 PMID:32349990 PMID:32396277 PMID:32451492 PMID:32461654 PMID:32483926 PMID:32503575 PMID:32531858 PMID:32531870 PMID:32581362 PMID:32682410 PMID:32746448 PMID:32856788 PMID:32867697 PMID:32870709 PMID:32944671 PMID:32945434 PMID:32973878 PMID:33179747 PMID:33502066 PMID:33669459 PMID:33782391 PMID:33924909 PMID:33981653 PMID:34147365 PMID:34148116 PMID:34148947 PMID:34547244 PMID:34716235 PMID:34795310 PMID:34906470 PMID:34935411 PMID:35211159 PMID:35764379 PMID:35786123 PMID:36109815 PMID:36162988 PMID:36178741 PMID:36252119 PMID:36413997 PMID:36460718 PMID:36685911 PMID:36927560 PMID:37321834 PMID:38674329 PMID:11941369 PMID:16720663 PMID:22876109 PMID:16000322 PMID:16513793 More...
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RGD:1601169, RGD:8696018, RGD:8696016, RGD:8696015, RGD:8696013 |
NCBI chr 4:119,683,085...119,783,471
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G |
Cct7 |
chaperonin containing TCP1 subunit 7 |
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ISO |
ClinVar Annotator: match by term: Alstrom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 4:119,546,730...119,563,973
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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 PMID:30250467 More...
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NCBI chr 9:69,812,859...69,819,959
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G |
Egr4 |
early growth response 4 |
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ISO |
ClinVar Annotator: match by term: Alstrom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 4:118,047,869...118,050,328
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G |
Emx1 |
empty spiracles homeobox 1 |
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ISO |
ClinVar Annotator: match by term: Alstrom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 4:117,725,148...117,741,616
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G |
Fbxo41 |
F-box protein 41 |
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ISO |
ClinVar Annotator: match by term: Alstrom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 4:118,007,517...118,039,547
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G |
Noto |
notochord homeobox |
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ISO |
ClinVar Annotator: match by term: Alstrom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 4:117,961,163...117,965,402
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G |
Pradc1 |
protease-associated domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Alstrom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 4:117,984,732...117,989,710
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G |
Rab11fip5 |
RAB11 family interacting protein 5 |
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ISO |
ClinVar Annotator: match by term: Alstrom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 4:117,871,301...117,908,819
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G |
Sfxn5 |
sideroflexin 5 |
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ISO |
ClinVar Annotator: match by term: Alstrom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 4:117,750,213...117,869,826
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G |
Smyd5 |
SMYD family member 5 |
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ISO |
ClinVar Annotator: match by term: Alstrom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 4:117,969,615...117,984,082
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G |
Spr |
sepiapterin reductase |
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ISO |
ClinVar Annotator: match by term: Alstrom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 4:117,671,948...117,676,292
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G |
Tango2 |
transport and golgi organization 2 homolog |
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ISO |
ClinVar Annotator: match by term: Alstrom syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr11:82,645,978...82,692,574
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G |
Ttn |
titin |
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ISO |
ClinVar Annotator: match by term: Alstrom's syndrome |
ClinVar |
PMID:23975875 PMID:25589632 PMID:28492532 |
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NCBI chr 3:82,059,648...82,332,130
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G |
Cnnm4 |
cyclin and CBS domain divalent metal cation transport mediator 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 9:38,711,726...38,750,942
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G |
Best1 |
bestrophin 1 |
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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 PMID:10854112 PMID:11585313 PMID:12543751 PMID:13534955 PMID:14615048 PMID:15452077 PMID:17065513 PMID:17576681 PMID:18289629 PMID:18611979 PMID:18985398 PMID:19853238 PMID:20927214 PMID:21072067 PMID:21273940 PMID:21330666 PMID:21436265 PMID:21809908 PMID:21825197 PMID:23213274 PMID:23591405 PMID:24560797 PMID:25489231 PMID:25741868 PMID:25999674 PMID:26201355 PMID:26720466 PMID:26771239 PMID:28225368 PMID:28492532 PMID:28559085 PMID:28687848 PMID:29215532 PMID:29555955 PMID:29668979 PMID:29844330 PMID:30498755 PMID:30593719 PMID:30718709 PMID:31254423 PMID:31263784 PMID:31429209 PMID:31519547 PMID:31570112 PMID:31589614 PMID:31766397 PMID:32100970 PMID:32141364 PMID:32239196 PMID:32531858 PMID:32883240 PMID:33090715 PMID:33302512 PMID:33546218 PMID:33691693 PMID:34061021 PMID:34327816 PMID:34373720 PMID:35119454 PMID:35885980 PMID:35973442 PMID:36284460 PMID:36378562 PMID:36460718 PMID:36512348 More...
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NCBI chr 1:206,629,340...206,646,085
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G |
Fth1 |
ferritin heavy chain 1 |
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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 PMID:20927214 PMID:21273940 PMID:21330666 PMID:21809908 PMID:21825197 PMID:23591405 PMID:24560797 PMID:25489231 PMID:25741868 PMID:26201355 PMID:26720466 PMID:28492532 PMID:28559085 PMID:28687848 PMID:29555955 PMID:29668979 PMID:30498755 PMID:30593719 PMID:31429209 PMID:31519547 PMID:31766397 PMID:32100970 PMID:32141364 PMID:32883240 PMID:33090715 PMID:33302512 PMID:33546218 PMID:33691693 PMID:34327816 PMID:34373720 PMID:35885980 PMID:35973442 PMID:36284460 PMID:36378562 More...
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NCBI chr 1:216,052,037...216,054,325
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G |
A2m |
alpha-2-macroglobulin |
treatment |
ISO |
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RGD |
PMID:10848441 |
RGD:10046010 |
NCBI chr 4:154,897,770...154,947,787
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G |
Cat |
catalase |
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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
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G |
Flt1 |
Fms related receptor tyrosine kinase 1 |
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ISO |
protein:decreased expression:aqueous humor: |
RGD |
PMID:23853629 |
RGD:10402120 |
NCBI chr12:12,333,050...12,504,750
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G |
Map3k8 |
mitogen-activated protein kinase kinase kinase 8 |
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ISO |
protein:increased activity:serum: |
RGD |
PMID:28724746 |
RGD:151356966 |
NCBI chr17:58,078,175...58,098,455
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G |
Pdgfb |
platelet derived growth factor subunit B |
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ISO |
protein:decreased expression:vitreous: |
RGD |
PMID:19799585 |
RGD:10449447 |
NCBI chr 7:113,419,882...113,438,343
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G |
Cfh |
complement factor H |
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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 PMID:10762557 PMID:11158219 PMID:11170895 PMID:11170896 PMID:11851332 PMID:11978762 PMID:12424708 PMID:12697737 PMID:14583443 PMID:14978182 PMID:15761120 PMID:15761121 PMID:15761122 PMID:15870199 PMID:15895326 PMID:16229850 PMID:16299065 PMID:16338962 PMID:16470555 PMID:16601698 PMID:16619239 PMID:16621965 PMID:16630992 PMID:16710702 PMID:16787919 PMID:16816528 PMID:16936733 PMID:17018561 PMID:17076561 PMID:17079491 PMID:17089378 PMID:17198853 PMID:17210858 PMID:17241667 PMID:17293598 PMID:17360715 PMID:17396242 PMID:17398321 PMID:17472578 PMID:17576681 PMID:17599974 PMID:17947292 PMID:18235085 PMID:18252232 PMID:18252712 PMID:18557729 PMID:19190809 PMID:19259132 PMID:19297022 PMID:19454698 PMID:19633317 PMID:20016463 PMID:20059470 PMID:20203157 PMID:20301541 PMID:20513133 PMID:20660596 PMID:21317894 PMID:21415311 PMID:21670343 PMID:21909106 PMID:21930971 PMID:21979047 PMID:22019782 PMID:22171659 PMID:22223606 PMID:22389686 PMID:22403278 PMID:22410797 PMID:22456601 PMID:22594991 PMID:22669321 PMID:23235567 PMID:23307876 PMID:23431077 PMID:23685748 PMID:23847193 PMID:23852337 PMID:23870792 PMID:24029428 PMID:24036949 PMID:24036952 PMID:24333077 PMID:24498017 PMID:24847005 PMID:24906858 PMID:25037630 PMID:25087612 PMID:25188723 PMID:25741868 PMID:25814826 PMID:25880396 PMID:26215151 PMID:26283675 PMID:26376859 PMID:26501415 PMID:26559391 PMID:26613026 PMID:26691988 PMID:26826462 PMID:27572114 PMID:27718086 PMID:27939104 PMID:28011711 PMID:28492532 PMID:28596415 PMID:28859202 PMID:28941939 PMID:29410599 PMID:29500241 PMID:29511899 PMID:29686068 PMID:29888403 PMID:30046676 PMID:30295827 PMID:30560448 PMID:30674459 PMID:31447099 PMID:31575699 PMID:31589614 PMID:32185379 PMID:33024316 PMID:33519811 PMID:34169201 PMID:34189567 PMID:34260947 PMID:34508573 PMID:34714369 PMID:34748552 PMID:34912830 PMID:35925583 PMID:35930268 PMID:36246952 PMID:36445700 More...
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NCBI chr13:51,512,376...51,613,829
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G |
Best1 |
bestrophin 1 |
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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 PMID:10788642 PMID:10798642 PMID:10854112 PMID:14517959 PMID:16199547 PMID:16754206 PMID:17110374 PMID:17287362 PMID:18179881 PMID:18985398 PMID:19372599 PMID:19853238 PMID:20057343 PMID:20927214 PMID:21077756 PMID:21109774 PMID:21192766 PMID:21269699 PMID:21273940 PMID:21330666 PMID:21412020 PMID:21738390 PMID:21809908 PMID:21825197 PMID:21878505 PMID:22162627 PMID:22183385 PMID:22422030 PMID:23213274 PMID:23290749 PMID:23591405 PMID:23825107 PMID:24033266 PMID:24560797 PMID:24859690 PMID:25082885 PMID:25324289 PMID:25489231 PMID:25525159 PMID:25741868 PMID:26200502 PMID:26201355 PMID:26310487 PMID:26333019 PMID:26720466 PMID:27071392 PMID:27078032 PMID:27519691 PMID:27764019 PMID:27775230 PMID:28041643 PMID:28492532 PMID:28512305 PMID:28559085 PMID:28687848 PMID:29063836 PMID:29068140 PMID:29215532 PMID:29507198 PMID:29555955 PMID:29668979 PMID:29781975 PMID:29847639 PMID:29976937 PMID:30457648 PMID:30498755 PMID:30578502 PMID:30593719 PMID:30718709 PMID:31429209 PMID:31455904 PMID:31456290 PMID:31519547 PMID:31570112 PMID:31589614 PMID:31766397 PMID:31814694 PMID:32100970 PMID:32141364 PMID:32147488 PMID:32239196 PMID:32531858 PMID:32883240 PMID:33090715 PMID:33302512 PMID:33369172 PMID:33546218 PMID:33691693 PMID:34015078 PMID:34327816 PMID:34373720 PMID:34426522 PMID:35119454 PMID:35260635 PMID:35456422 PMID:35656873 PMID:35768830 PMID:35885980 PMID:35973442 PMID:36284460 PMID:36378562 PMID:36460718 PMID:36512348 PMID:36527004 PMID:36527006 More...
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NCBI chr 1:206,629,340...206,646,085
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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 PMID:24033266 PMID:25474345 PMID:25741868 PMID:27096895 PMID:27258436 PMID:27628848 PMID:28041643 PMID:28181551 PMID:28492532 PMID:28819299 PMID:29391521 PMID:29555955 PMID:29869924 PMID:30609409 PMID:30910914 PMID:31047384 PMID:31875109 PMID:31964843 PMID:31980526 PMID:32037395 PMID:32531858 PMID:32581362 PMID:33029571 PMID:33387055 PMID:33546218 PMID:33749171 PMID:33773389 PMID:34003923 PMID:34426522 PMID:34783605 PMID:34884448 PMID:35119454 PMID:35456422 PMID:36460718 PMID:36819107 PMID:36909829 More...
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NCBI chr13:53,352,932...53,540,019
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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 PMID:21273940 PMID:21330666 PMID:21809908 PMID:21825197 PMID:23591405 PMID:24560797 PMID:25489231 PMID:25741868 PMID:26201355 PMID:26720466 PMID:28492532 PMID:28559085 PMID:28687848 PMID:29555955 PMID:29668979 PMID:30498755 PMID:30593719 PMID:31429209 PMID:31519547 PMID:31766397 PMID:32100970 PMID:32141364 PMID:32883240 PMID:33090715 PMID:33302512 PMID:33546218 PMID:33691693 PMID:34327816 PMID:34373720 PMID:35885980 PMID:35973442 PMID:36284460 PMID:36378562 More...
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NCBI chr 1:216,052,037...216,054,325
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G |
Prph2 |
peripherin 2 |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive bestrophinopathy |
ClinVar |
PMID:11139241 PMID:15370544 PMID:16113362 PMID:16799052 PMID:22466463 PMID:25001182 PMID:25082885 PMID:25097241 PMID:25741868 PMID:28053051 PMID:28492532 PMID:28559085 PMID:32531846 PMID:33546218 PMID:34411390 PMID:34906470 More...
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NCBI chr 9:14,066,149...14,081,454
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G |
Abca4 |
ATP binding cassette subfamily A member 4 |
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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 PMID:25741868 PMID:26780318 PMID:28041643 PMID:28492532 PMID:29186038 PMID:30718709 PMID:30798147 PMID:33546218 More...
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NCBI chr 2:212,849,470...212,986,730
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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 PMID:16199547 PMID:17962476 PMID:18398705 PMID:21385027 PMID:21565171 PMID:22087103 PMID:22497028 PMID:22693542 PMID:22772592 PMID:23221965 PMID:23462753 PMID:23538635 PMID:23661369 PMID:24033266 PMID:24480711 PMID:24739949 PMID:25118264 PMID:25356976 PMID:25525159 PMID:25593508 PMID:25611614 PMID:25741868 PMID:26971461 PMID:27658286 PMID:28051075 PMID:28453600 PMID:28492532 PMID:28512305 PMID:28698241 PMID:28763560 PMID:28848678 PMID:29691984 PMID:29785639 PMID:30429639 PMID:31054281 PMID:31512983 PMID:31589614 PMID:31872526 PMID:31960602 PMID:31964843 PMID:32100970 PMID:32531858 PMID:33090715 PMID:33546218 PMID:33816482 PMID:33964374 PMID:34310258 PMID:34426522 PMID:34923510 PMID:36460718 PMID:36464167 More...
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NCBI chr16:53,650,978...53,675,916
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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
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G |
Il2 |
interleukin 2 |
|
ISO |
protein:increased expression:aqueous humor |
RGD |
PMID:21570674 |
RGD:5147908 |
NCBI chr 2:121,932,968...121,937,672
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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
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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 PMID:15953459 PMID:18344446 PMID:19846785 PMID:20238024 PMID:22171637 PMID:22183382 PMID:25326637 PMID:25429852 PMID:25741868 PMID:26355662 PMID:28492532 PMID:31456290 PMID:32188692 PMID:32552793 PMID:34426522 More...
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NCBI chr 1:142,718,262...142,731,621
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G |
Igf1 |
insulin-like growth factor 1 |
|
ISO |
ClinVar Annotator: match by term: Chorioretinal dystrophy, spinocerebellar ataxia and hypogonadotropic hypogonadism |
ClinVar |
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|
NCBI chr 7:24,169,608...24,249,446
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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 |
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NCBI chr12:1,560,341...1,574,252
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G |
Pnpla6 |
patatin-like phospholipase domain containing 6 |
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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 PMID:18313024 PMID:20603202 PMID:23733235 PMID:24355708 PMID:25033069 PMID:25267340 PMID:25299038 PMID:25359264 PMID:25480986 PMID:25574898 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29248984 PMID:30555943 PMID:31135245 PMID:31780887 PMID:32623594 PMID:33141049 PMID:34234304 PMID:34445196 PMID:35069422 PMID:35872528 PMID:36825042 PMID:38735647 More...
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NCBI chr12:1,574,387...1,603,735
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G |
Rgs9 |
regulator of G-protein signaling 9 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Bradyopsia |
CTD ClinVar |
PMID:11262419 PMID:14702087 PMID:17826834 PMID:19818506 PMID:25741868 PMID:28492532 PMID:30718709 More...
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NCBI chr10:94,696,556...94,770,387
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G |
Rgs9bp |
regulator of G protein signaling 9 binding protein |
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ISO |
ClinVar Annotator: match by term: Bradyopsia |
ClinVar |
PMID:14702087 PMID:25741868 PMID:28492532 PMID:31589614 |
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NCBI chr 1:97,386,326...97,387,039
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G |
Rgs9 |
regulator of G-protein signaling 9 |
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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 |
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NCBI chr10:94,696,556...94,770,387
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G |
Rgs9bp |
regulator of G protein signaling 9 binding protein |
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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 |
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NCBI chr 1:97,386,326...97,387,039
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G |
Col4a1 |
collagen type IV alpha 1 chain |
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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 PMID:7695699 PMID:8218237 PMID:9016532 PMID:9536098 PMID:9724608 PMID:10713126 PMID:10896941 PMID:12011424 PMID:15023374 PMID:15136694 PMID:15905400 PMID:16107487 PMID:16159887 PMID:16199547 PMID:16598045 PMID:17078022 PMID:17576681 PMID:17696175 PMID:17938367 PMID:18077766 PMID:19194877 PMID:19344236 PMID:19477666 PMID:20301768 PMID:20385946 PMID:20733150 PMID:21527998 PMID:21625620 PMID:22102590 PMID:22522439 PMID:22574627 PMID:22914737 PMID:23065703 PMID:23225343 PMID:23394911 PMID:24088041 PMID:24374867 PMID:24628545 PMID:25326635 PMID:25457163 PMID:25590979 PMID:25706114 PMID:25719457 PMID:25741868 PMID:25741869 PMID:26310487 PMID:26362372 PMID:26467025 PMID:26633545 PMID:28017902 PMID:28369186 PMID:28442301 PMID:28492532 PMID:28750028 PMID:29137252 PMID:29602769 PMID:29770612 PMID:29927466 PMID:30087447 PMID:30181649 PMID:30315939 PMID:30413629 PMID:30653986 PMID:30837194 PMID:31051113 PMID:31069529 PMID:31230195 PMID:31719132 PMID:31857254 PMID:32033901 PMID:32042920 PMID:32488064 PMID:32499604 PMID:32515830 PMID:32732225 PMID:32818659 PMID:33298904 PMID:33353976 PMID:33527515 PMID:34114234 PMID:34906502 PMID:35711275 PMID:36035189 PMID:37644014 PMID:37673932 PMID:37830085 More...
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NCBI chr16:84,885,597...84,996,482
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G |
Col4a2 |
collagen type IV alpha 2 chain |
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ISO |
ClinVar Annotator: match by term: Brain small vessel disease with hemorrhage |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr16:78,047,591...78,183,360
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G |
Kat6b |
lysine acetyltransferase 6B |
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ISO |
ClinVar Annotator: match by term: Brain small vessel disease with hemorrhage |
ClinVar |
PMID:25741868 |
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NCBI chr15:2,638,885...2,811,977
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G |
Proc |
protein C, inactivator of coagulation factors Va and VIIIa |
treatment |
ISO |
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RGD |
PMID:20688738 |
RGD:11100028 |
NCBI chr18:24,038,596...24,049,061
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G |
Serpinf1 |
serpin family F member 1 |
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IEP |
protein:increased expression:neuroretina (rat) |
RGD |
PMID:21487926 |
RGD:5490120 |
NCBI chr10:60,250,198...60,262,593
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G |
Serpine1 |
serpin family E member 1 |
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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
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G |
Ctc1 |
CST telomere replication complex component 1 |
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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 PMID:25182133 PMID:25741868 PMID:28492532 PMID:30891747 More...
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NCBI chr10:54,212,537...54,234,146
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G |
Stn1 |
STN1 subunit of CST complex |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 1:246,391,311...246,429,844
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G |
Ctc1 |
CST telomere replication complex component 1 |
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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 PMID:22267198 PMID:22387016 PMID:22532422 PMID:22899577 PMID:23869908 PMID:24033266 PMID:24115768 PMID:25182133 PMID:25197929 PMID:25741868 PMID:25843205 PMID:28492532 PMID:28864049 PMID:29111009 PMID:29146883 PMID:29228254 PMID:29481669 PMID:30523342 PMID:30891747 PMID:33510405 PMID:34573280 PMID:34706368 More...
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NCBI chr10:54,212,537...54,234,146
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G |
Pfas |
phosphoribosylformylglycinamidine synthase |
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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 PMID:29481669 More...
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NCBI chr10:54,189,157...54,210,685
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G |
Stn1 |
STN1 subunit of CST complex |
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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 |
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NCBI chr 1:246,391,311...246,429,844
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G |
Pot1 |
protection of telomeres 1 |
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ISO |
ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 3 |
ClinVar OMIM |
PMID:27013236 PMID:28492532 |
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NCBI chr 4:54,205,330...54,263,137
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G |
Col2a1 |
collagen type II alpha 1 chain |
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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
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G |
Chm |
CHM Rab escort protein |
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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 PMID:8477262 PMID:8832720 PMID:9067750 PMID:9175730 PMID:10420196 PMID:10447648 PMID:11139690 PMID:12203991 PMID:12827496 PMID:16087855 PMID:16199547 PMID:16936131 PMID:18766988 PMID:19422966 PMID:19427510 PMID:21905166 PMID:22957832 PMID:23811034 PMID:25525159 PMID:25741868 PMID:25744334 PMID:25912515 PMID:26133251 PMID:27247961 PMID:27596865 PMID:28041643 PMID:28098911 PMID:28492532 PMID:28559085 PMID:28752371 PMID:29045269 PMID:29555028 PMID:29625443 PMID:29847639 PMID:30297895 PMID:30541579 PMID:30689859 PMID:30718709 PMID:30995293 PMID:31054281 PMID:31144483 PMID:31416074 PMID:31456290 PMID:31852928 PMID:31922496 PMID:32097478 PMID:32364220 PMID:32487042 PMID:32531858 PMID:32985515 PMID:33090715 PMID:33110609 PMID:33394956 PMID:33691693 PMID:33749171 PMID:36284460 PMID:36460718 PMID:36909829 More...
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NCBI chr X:82,395,463...82,554,249
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G |
Prph2 |
peripherin 2 |
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ISO |
ClinVar Annotator: match by term: Progressive tapetochoroidal dystrophy |
ClinVar |
PMID:9536098 PMID:11139241 PMID:11704030 PMID:16113362 PMID:16799052 PMID:17576681 PMID:23950152 PMID:25082885 PMID:25675413 PMID:25741868 PMID:26842753 PMID:28492532 PMID:28559085 PMID:32531846 More...
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NCBI chr 9:14,066,149...14,081,454
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G |
Acod1 |
aconitate decarboxylase 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:79,871,819...79,881,101
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G |
Alg11 |
ALG11, alpha-1,2-mannosyltransferase |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr16:69,940,540...69,951,617
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G |
Arl11 |
ARF like GTPase 11 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:35,483,330...35,485,579
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G |
Atp7b |
ATPase copper transporting beta |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr16:76,654,725...76,726,092
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G |
Bora |
bora, aurora kinase A activator |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:82,205,467...82,243,499
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G |
C15h13orf42 |
similar to human chromosome 13 open reading frame 42 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:36,674,840...36,701,304
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G |
Cab39l |
calcium binding protein 39-like |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:33,606,588...33,710,518
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G |
Ccdc70 |
coiled-coil domain containing 70 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr16:70,037,309...70,042,401
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G |
Cdadc1 |
cytidine and dCMP deaminase domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:37,902,789...37,934,853
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G |
Ckap2 |
cytoskeleton associated protein 2 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr16:76,542,114...76,567,297
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G |
Cln5 |
CLN5, intracellular trafficking protein |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:79,893,573...79,903,438
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G |
Cnmd |
chondromodulin |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:55,041,548...55,066,297
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G |
Commd6 |
COMM domain containing 6 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:84,882,069...84,889,124
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G |
Cysltr2 |
cysteinyl leukotriene receptor 2 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:48,189,476...48,228,750
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G |
Dach1 |
dachshund family transcription factor 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:74,528,122...74,909,811
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G |
Diaph3 |
diaphanous-related formin 3 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:62,543,375...63,013,060
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G |
Dis3 |
DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:82,231,922...82,258,299
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G |
Dleu7 |
deleted in lymphocytic leukemia, 7 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:36,479,533...36,495,730
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G |
Ebpl |
EBP like |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:35,508,074...35,531,472
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G |
Ednrb |
endothelin receptor type B |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:87,055,490...87,086,765
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G |
Fam124a |
family with sequence similarity 124 member A |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:36,799,836...36,855,062
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G |
Fbxl3 |
F-box and leucine-rich repeat protein 3 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:79,906,795...79,926,678
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G |
Fndc3a |
fibronectin type III domain containing 3a |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:47,689,909...47,867,354
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G |
Ints6 |
integrator complex subunit 6 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:36,908,966...37,048,043
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G |
Itm2b |
integral membrane protein 2B |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:48,545,998...48,568,904
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G |
Kcnrg |
potassium channel regulator |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:35,774,456...35,779,409
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G |
Kctd12 |
potassium channel tetramerization domain containing 12 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:86,214,786...86,220,725
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G |
Klf12 |
KLF transcription factor 12 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:83,037,548...83,469,998
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G |
Klf5 |
KLF transcription factor 5 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:76,060,320...76,079,445
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G |
Klhl1 |
kelch-like family member 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:72,698,191...73,142,726
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G |
Kpna3 |
karyopherin subunit alpha 3 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:39,712,375...39,786,127
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G |
Lmo7 |
LIM domain 7 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:78,566,999...78,769,833
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G |
Lpar6 |
lysophosphatidic acid receptor 6 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:48,416,548...48,418,357
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G |
Med4 |
mediator complex subunit 4 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:48,696,542...48,706,818
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G |
Mycbp2 |
MYC binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:86,352,061...86,590,126
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G |
Mzt1 |
mitotic spindle organizing protein 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:75,787,281...75,797,589
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G |
Ndfip2 |
Nedd4 family interacting protein 2 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:82,032,366...82,087,043
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G |
Nek3 |
NIMA-related kinase 3 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr16:76,569,465...76,594,921
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G |
Nek5 |
NIMA-related kinase 5 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr16:76,597,857...76,641,113
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G |
Nudt15 |
nudix hydrolase 15 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:55,117,312...55,123,983
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G |
Obi1 |
ORC ubiquitin ligase 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:81,269,413...81,308,734
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G |
Olfm4 |
olfactomedin 4 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:55,385,100...55,429,687
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G |
Pcdh17 |
protocadherin 17 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:60,222,088...60,316,172
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G |
Pcdh20 |
protocadherin 20 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:64,425,534...64,431,790
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G |
Pcdh8 |
protocadherin 8 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:55,198,470...55,203,039
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G |
Pcdh9 |
protocadherin 9 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:69,340,108...70,237,531
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G |
Phf11 |
PHD finger protein 11 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:37,568,090...37,592,490
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G |
Pibf1 |
progesterone immunomodulatory binding factor 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:82,258,243...82,427,546
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G |
Pou4f1 |
POU class 4 homeobox 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:87,668,328...87,674,643
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
G |
Scel |
sciellin |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:80,339,661...80,456,546
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
G |
Car7 |
carbonic anhydrase 7 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:435,520...444,927
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
G |
Cdh16 |
cadherin 16 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:360,824...371,008
|
|
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
|
|
G |
Cdh5 |
cadherin 5 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:815,415...854,478
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
G |
Cklf |
chemokine-like factor |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:698,097...706,570
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
G |
Pllp |
plasmolipin |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:10,315,104...10,335,892
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
G |
Tk2 |
thymidine kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:713,043...737,345
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
|
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
|
|
|
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 PMID:24033266 PMID:24744206 PMID:25711638 PMID:25741868 PMID:26908610 PMID:27316669 PMID:28492532 PMID:30452590 PMID:31294129 More...
|
|
NCBI chr 1:143,279,934...143,288,799
|
|
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
|
|
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
|
|
G |
Prss23 |
serine protease 23 |
|
ISO |
ClinVar Annotator: match by term: Coats disease |
ClinVar |
PMID:14507768 PMID:15035989 PMID:17955262 PMID:20340138 PMID:20938005 PMID:24033266 PMID:24744206 PMID:25711638 PMID:25741868 PMID:26908610 PMID:27316669 PMID:28492532 PMID:30452590 PMID:31294129 More...
|
|
NCBI chr 1:143,402,725...143,422,182
|
|
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
|
|
G |
Rho |
rhodopsin |
|
ISO |
ClinVar Annotator: match by term: Exudative retinopathy |
ClinVar |
PMID:7987331 PMID:9380676 PMID:10967073 PMID:25741868 PMID:28492532 PMID:30977563 More...
|
|
NCBI chr 4:148,975,597...148,988,693
|
|
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
|
|
|
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 PMID:19074458 PMID:20696155 PMID:22264887 PMID:22328824 PMID:23443024 PMID:23591405 PMID:23695285 PMID:24342785 PMID:24713488 PMID:24938718 PMID:25082885 PMID:25097241 PMID:25312043 PMID:25525159 PMID:25544989 PMID:25741868 PMID:26261413 PMID:26780318 PMID:26872967 PMID:26976702 PMID:27775217 PMID:28041643 PMID:28118664 PMID:28341476 PMID:28492532 PMID:28559085 PMID:28947085 PMID:29162642 PMID:29310964 PMID:29461686 PMID:29555955 PMID:29736279 PMID:29925512 PMID:30093795 PMID:30204727 PMID:30576320 PMID:30643219 PMID:30718709 PMID:31429209 PMID:31522899 PMID:31589614 PMID:31618761 PMID:31766579 PMID:31964843 PMID:31980526 PMID:32036094 PMID:32141364 PMID:32235935 PMID:32307445 PMID:32467599 PMID:32531858 PMID:32581362 PMID:32619608 PMID:32783370 PMID:33546218 PMID:33706644 PMID:33749171 PMID:33851411 PMID:34198153 PMID:34570182 PMID:34758253 PMID:35055178 PMID:35076026 PMID:35119454 PMID:35409265 PMID:35476365 PMID:36209838 PMID:36284670 PMID:36338671 PMID:36460718 PMID:36819107 PMID:36909829 PMID:36910710 PMID:18024811 More...
|
RGD:7829711 |
NCBI chr 2:212,849,470...212,986,730
|
|
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 PMID:28492532 More...
|
|
NCBI chr 1:76,539,812...76,553,694
|
|
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 PMID:28492532 PMID:32817297 PMID:36909829 More...
|
|
NCBI chr 8:81,243,624...81,389,722
|
|
|
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 PMID:20335603 PMID:22427542 PMID:22968130 PMID:23134348 PMID:23755871 PMID:23940504 PMID:24265693 PMID:24938718 PMID:25312043 PMID:25346251 PMID:25474345 PMID:25525159 PMID:25698705 PMID:25741868 PMID:26593885 PMID:26720470 PMID:26780318 PMID:28041643 PMID:28118664 PMID:28157192 PMID:28224992 PMID:28341476 PMID:28492530 PMID:28492532 PMID:29555955 PMID:29925512 PMID:30060493 PMID:30190494 PMID:30653986 PMID:30670881 PMID:30718709 PMID:31212395 PMID:31429209 PMID:31522899 PMID:31736247 PMID:31816670 PMID:31964843 PMID:31980526 PMID:32307445 PMID:32531858 PMID:32581362 PMID:32783370 PMID:33546218 PMID:33633436 PMID:33749171 PMID:34327195 PMID:34426522 PMID:34758253 PMID:34996991 PMID:35456422 PMID:35836572 PMID:36460718 PMID:36819107 More...
|
|
NCBI chr 2:212,849,470...212,986,730
|
|
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
|
|
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 PMID:25741868 PMID:28041643 PMID:28224992 PMID:28492532 PMID:29068140 PMID:31506453 PMID:32581362 PMID:34448047 PMID:35835773 More...
|
|
NCBI chr 3:74,818,104...74,839,658
|
|
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 PMID:29525873 PMID:31964843 PMID:32581362 PMID:34426522 PMID:34758253 More...
|
|
NCBI chr 1:201,428,671...201,442,950
|
|
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
|
|
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 PMID:28765526 PMID:29555955 PMID:30718709 PMID:31130284 PMID:31387115 PMID:31964843 PMID:32581362 PMID:33546218 PMID:33576794 PMID:33749171 PMID:34229535 PMID:35260635 PMID:35627310 PMID:35656873 PMID:35836572 PMID:36460718 More...
|
|
NCBI chr16:12,843,436...12,863,321
|
|
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 PMID:22164218 PMID:23591405 PMID:24043777 PMID:24123366 PMID:24625443 PMID:24705292 PMID:25097241 PMID:25525159 PMID:25741868 PMID:25999674 PMID:28041643 PMID:28157192 PMID:28492532 PMID:28559085 PMID:28838317 PMID:29068140 PMID:29555955 PMID:30337596 PMID:30718709 PMID:31054281 PMID:31082679 PMID:31456290 PMID:31589614 PMID:31964843 PMID:32036094 PMID:32037395 PMID:32411380 PMID:32531858 PMID:32581362 PMID:32865075 PMID:33322828 PMID:33576794 PMID:33749171 PMID:33921607 PMID:34315337 PMID:34426522 PMID:34758253 PMID:34906470 PMID:35119454 PMID:35456422 PMID:36460718 PMID:36819107 PMID:36909829 PMID:221642182 More...
|
|
NCBI chr 3:84,641,121...84,747,999
|
|
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 PMID:28422394 PMID:28492532 PMID:28771251 PMID:31429209 PMID:31980526 PMID:32036094 PMID:32531858 PMID:32581362 PMID:34426522 PMID:34795310 PMID:34906470 PMID:35055178 More...
|
|
NCBI chr20:10,687,863...10,694,736
|
|
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 PMID:30289319 PMID:32783370 PMID:32913385 PMID:35332618 PMID:36259723 More...
|
|
NCBI chr 9:39,447,534...39,494,044
|
|
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 PMID:18055816 PMID:19401883 PMID:20301475 PMID:20956273 PMID:22065545 PMID:23379534 PMID:24033266 PMID:24512366 PMID:25474345 PMID:25741868 PMID:26914788 PMID:27096895 PMID:27113771 PMID:27258436 PMID:27628848 PMID:28041643 PMID:28157192 PMID:28181551 PMID:28341475 PMID:28341476 PMID:28492532 PMID:28559085 PMID:28819299 PMID:29178642 PMID:29343940 PMID:29391521 PMID:29555955 PMID:29869924 PMID:30337596 PMID:30576320 PMID:30609409 PMID:30718709 PMID:30910914 PMID:31047384 PMID:31429209 PMID:31589614 PMID:31875109 PMID:31879567 PMID:31964843 PMID:31980526 PMID:32037395 PMID:32141364 PMID:32531858 PMID:32581362 PMID:32865313 PMID:33029571 PMID:33387055 PMID:33546218 PMID:33576794 PMID:33749171 PMID:33773389 PMID:34003923 PMID:34327195 PMID:34426522 PMID:34758253 PMID:34783605 PMID:34884448 PMID:35119454 PMID:35170635 PMID:35456422 PMID:36369640 PMID:36460718 PMID:36819107 PMID:36909829 More...
|
|
NCBI chr13:53,352,932...53,540,019
|
|
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
|
|
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
|
|
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
|
|
G |
Gucy2e |
guanylate cyclase 2E |
|
ISO |
ClinVar Annotator: match by term: Cone dystrophy |
ClinVar |
PMID:8554074 PMID:9618177 PMID:10676808 PMID:10951519 PMID:11115851 PMID:11565546 PMID:11709018 PMID:12552567 PMID:15175914 PMID:18055820 PMID:18487367 PMID:21602930 PMID:22183351 PMID:22194653 PMID:22968130 PMID:24480840 PMID:24875811 PMID:25283059 PMID:25741868 PMID:26298565 PMID:26747767 PMID:28041643 PMID:28181551 PMID:28492532 PMID:28559085 PMID:29061346 PMID:29178642 PMID:29555955 PMID:30588428 PMID:30718709 PMID:31429209 PMID:31456290 PMID:31704230 PMID:31816670 PMID:32036094 PMID:32531858 PMID:32581362 PMID:32811265 PMID:32821499 PMID:33369172 PMID:33546218 PMID:33691693 PMID:33749171 PMID:34048777 PMID:34758253 PMID:34906470 PMID:35119454 PMID:35260635 PMID:36284460 PMID:36460718 PMID:36819107 PMID:36909829 More...
|
|
NCBI chr10:54,453,753...54,478,639
|
|
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 PMID:25741868 PMID:28492532 PMID:31180159 PMID:31589614 PMID:31964843 PMID:32531858 PMID:33309813 PMID:34426522 PMID:35119454 PMID:35456422 PMID:36909829 More...
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NCBI chr 1:224,999,552...225,014,062
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G |
Mall |
mal, T-cell differentiation protein-like |
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ISO |
ClinVar Annotator: match by term: Cone dystrophy |
ClinVar |
PMID:28041643 |
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NCBI chr 3:135,381,180...135,404,136
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G |
Mtln |
mitoregulin |
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ISO |
ClinVar Annotator: match by term: Cone dystrophy |
ClinVar |
PMID:28041643 |
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NCBI chr 3:135,472,081...135,472,939
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G |
Nmnat1 |
nicotinamide nucleotide adenylyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Cone dystrophy |
ClinVar |
PMID:29184169 |
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NCBI chr 5:159,910,242...159,928,201
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G |
Nphp1 |
nephrocystin 1 |
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ISO |
ClinVar Annotator: match by term: Cone dystrophy |
ClinVar |
PMID:28041643 |
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NCBI chr 3:135,413,927...135,469,505
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G |
Pde6c |
phosphodiesterase 6C |
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ISO |
ClinVar Annotator: match by term: Cone dystrophy |
ClinVar |
PMID:25741868 PMID:36909829 |
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NCBI chr 1:235,909,583...235,965,435
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G |
Pitpnm3 |
PITPNM family member 3 |
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ISO |
ClinVar Annotator: match by term: Cone dystrophy |
ClinVar |
PMID:25741868 |
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NCBI chr10:56,674,697...56,766,552
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G |
Prph2 |
peripherin 2 |
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ISO |
ClinVar Annotator: match by term: Cone dystrophy |
ClinVar |
PMID:8644804 PMID:11139263 PMID:11801511 PMID:17653047 PMID:19038374 PMID:19243827 PMID:22003107 PMID:22334370 PMID:23950152 PMID:25741868 PMID:25999674 PMID:27813578 PMID:28076437 PMID:28224992 PMID:28492532 PMID:28559085 PMID:29155698 PMID:29555955 PMID:30215852 PMID:30718709 PMID:30910914 PMID:31456290 PMID:31589614 PMID:32531846 PMID:33546218 PMID:33846575 PMID:34411390 PMID:34647987 PMID:34828423 PMID:34906036 PMID:36284460 More...
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NCBI chr 9:14,066,149...14,081,454
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G |
Rab28 |
RAB28, member RAS oncogene family |
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ISO |
ClinVar Annotator: match by term: Cone dystrophy |
ClinVar |
PMID:25741868 PMID:36909829 |
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NCBI chr14:69,245,846...69,322,968
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G |
Rgr |
retinal G protein coupled receptor |
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ISO |
ClinVar Annotator: match by term: Cone dystrophy |
ClinVar |
PMID:10581022 PMID:25741868 PMID:27623334 PMID:28492532 PMID:30337596 PMID:31964843 PMID:32531858 PMID:34229535 More...
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NCBI chr16:12,801,594...12,816,402
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G |
Rpgr |
retinitis pigmentosa GTPase regulator |
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ISO |
ClinVar Annotator: match by term: Cone dystrophy |
ClinVar |
PMID:11857109 PMID:11875055 PMID:22264887 PMID:25741868 PMID:28492532 PMID:29785639 More...
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NCBI chr X:12,566,447...12,628,171
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G |
Rpgrip1 |
RPGR interacting protein 1 |
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ISO |
ClinVar Annotator: match by term: Cone dystrophy |
ClinVar |
PMID:25741868 PMID:28492532 PMID:32531858 |
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NCBI chr15:27,282,997...27,341,021
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G |
Sag |
S-antigen visual arrestin |
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ISO |
ClinVar Annotator: match by term: Cone dystrophy |
ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 |
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NCBI chr 9:95,915,640...95,956,641
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G |
Srd5a3 |
steroid 5 alpha-reductase 3 |
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ISO |
ClinVar Annotator: match by term: Cone dystrophy |
ClinVar |
PMID:20637498 PMID:20700148 PMID:20852264 PMID:22304929 PMID:24433453 PMID:25326635 PMID:25741868 PMID:27480077 PMID:28492532 PMID:28940310 PMID:31638560 PMID:32581362 More...
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NCBI chr14:32,046,408...32,060,796
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G |
Wdr19 |
WD repeat domain 19 |
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ISO |
ClinVar Annotator: match by term: Cone dystrophy |
ClinVar |
PMID:22019273 PMID:23559409 PMID:23683095 PMID:25741868 PMID:26275793 PMID:27241786 PMID:28492532 PMID:29068549 More...
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NCBI chr14:43,396,130...43,460,012
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G |
Yap1 |
Yes1 associated transcriptional regulator |
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ISS |
OMIM:180020 | OMIM:610024 | OMIM:610356 | OMIM:610478 | OMIM:613093 |
MouseDO |
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NCBI chr 8:5,095,705...5,166,808
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G |
Pde6c |
phosphodiesterase 6C |
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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 PMID:18614542 PMID:19615668 PMID:19887631 PMID:20301591 PMID:21127010 PMID:23776498 PMID:25326637 PMID:25741868 PMID:26103963 PMID:27124789 PMID:28041643 PMID:28492532 PMID:30080950 PMID:31964843 PMID:32913385 PMID:33001157 PMID:33546218 PMID:35260635 More...
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NCBI chr 1:235,909,583...235,965,435
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G |
Cnnm4 |
cyclin and CBS domain divalent metal cation transport mediator 4 |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy amelogenesis imperfecta |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 9:38,711,726...38,750,942
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G |
Abca4 |
ATP binding cassette subfamily A member 4 |
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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 PMID:9536098 PMID:9666097 PMID:9781034 PMID:9973280 PMID:10090887 PMID:10413692 PMID:10458172 PMID:10612508 PMID:10634594 PMID:10711710 PMID:10880298 PMID:10958761 PMID:10958763 PMID:11017087 PMID:11328725 PMID:11346402 PMID:11444963 PMID:11527935 PMID:11702214 PMID:11726554 PMID:11857735 PMID:11919200 PMID:11973624 PMID:12037008 PMID:12192456 PMID:12515255 PMID:12796258 PMID:14517951 PMID:15108289 PMID:15192030 PMID:15516930 PMID:16103129 PMID:16123440 PMID:16199547 PMID:16303926 PMID:16400609 PMID:17296903 PMID:17325136 PMID:17325179 PMID:17576681 PMID:17724221 PMID:17982420 PMID:18024811 PMID:18161617 PMID:18285826 PMID:18854780 PMID:18977788 PMID:19028736 PMID:19074458 PMID:19217903 PMID:19243736 PMID:19365591 PMID:20029649 PMID:20335603 PMID:20647261 PMID:20696155 PMID:20981092 PMID:21330655 PMID:21786275 PMID:21911583 PMID:22025579 PMID:22229821 PMID:22264887 PMID:22312191 PMID:22427542 PMID:22661472 PMID:22661473 PMID:22735453 PMID:22968130 PMID:22995991 PMID:23096905 PMID:23143460 PMID:23144455 PMID:23419329 PMID:23695285 PMID:23755871 PMID:23769331 PMID:23918662 PMID:23940504 PMID:23953153 PMID:23982839 PMID:24011517 PMID:24033266 PMID:24082139 PMID:24097981 PMID:24154662 PMID:24265693 PMID:24453473 PMID:24677105 PMID:24713488 PMID:24938718 PMID:25066811 PMID:25082829 PMID:25082885 PMID:25087612 PMID:25097154 PMID:25097241 PMID:25283059 PMID:25312043 PMID:25333069 PMID:25346251 PMID:25356976 PMID:25444351 PMID:25472526 PMID:25474345 PMID:25640233 PMID:25698705 PMID:25712131 PMID:25741868 PMID:25910913 PMID:25921964 PMID:26103963 PMID:26247787 PMID:26527198 PMID:26593885 PMID:26720470 PMID:26780318 PMID:26872967 PMID:27014590 PMID:27535533 PMID:27628848 PMID:27739528 PMID:27775217 PMID:27939946 PMID:28041643 PMID:28044389 PMID:28118664 PMID:28130426 PMID:28157192 PMID:28181551 PMID:28224992 PMID:28327576 PMID:28341476 PMID:28430335 PMID:28446513 PMID:28492530 PMID:28492532 PMID:28559085 PMID:28771251 PMID:28947085 PMID:29068140 PMID:29099798 PMID:29114839 PMID:29145636 PMID:29162642 PMID:29186038 PMID:29310964 PMID:29431110 PMID:29555955 PMID:29706639 PMID:29847635 PMID:29854428 PMID:29925512 PMID:29971439 PMID:29975949 PMID:30054919 PMID:30060493 PMID:30093795 PMID:30190494 PMID:30204727 PMID:30215852 PMID:30480703 PMID:30480704 PMID:30563929 PMID:30609409 PMID:30643219 PMID:30653986 PMID:30670881 PMID:30718709 PMID:31054281 PMID:31212395 PMID:31213501 PMID:31429209 PMID:31456290 PMID:31522899 PMID:31543898 PMID:31576780 PMID:31589614 PMID:31614660 PMID:31618761 PMID:31618812 PMID:31736247 PMID:31814694 PMID:31816670 PMID:31964843 PMID:31980526 PMID:32036094 PMID:32037395 PMID:32244552 PMID:32278709 PMID:32307445 PMID:32413971 PMID:32467599 PMID:32483926 PMID:32531858 PMID:32581362 PMID:32619608 PMID:32653833 PMID:32717343 PMID:32783370 PMID:32815999 PMID:32845050 PMID:32845068 PMID:32913387 PMID:33090715 PMID:33223529 PMID:33258285 PMID:33261146 PMID:33301772 PMID:33302505 PMID:33375396 PMID:33546218 PMID:33633436 PMID:33691693 PMID:33706644 PMID:33732702 PMID:33841504 PMID:33846575 PMID:33851411 PMID:34008892 PMID:34198153 PMID:34240658 PMID:34315337 PMID:34327195 PMID:34426522 PMID:34570182 PMID:34758253 PMID:34795310 PMID:34874912 PMID:34906470 PMID:34946930 PMID:34996991 PMID:35076026 PMID:35119454 PMID:35243166 PMID:35260635 PMID:35409265 PMID:35656873 PMID:35657619 PMID:35753512 PMID:35836572 PMID:35886001 PMID:35903041 PMID:36209838 PMID:36284460 PMID:36284670 PMID:36338671 PMID:36460718 PMID:36471740 PMID:36672815 PMID:36819107 PMID:36909829 PMID:38054408 PMID:92952680 More...
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NCBI chr 2:212,849,470...212,986,730
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G |
Acbd5 |
acyl-CoA binding domain containing 5 |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr17:85,206,178...85,248,909
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G |
Adam9 |
ADAM metallopeptidase domain 9 |
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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 |
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NCBI chr16:73,725,186...73,804,284
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G |
Ahi1 |
Abelson helper integration site 1 |
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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 PMID:25741868 PMID:26035800 PMID:26092869 PMID:28118669 PMID:28442542 PMID:28492532 PMID:29186038 PMID:36819107 More...
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NCBI chr 1:17,580,859...17,711,775
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G |
Alms1 |
ALMS1, centrosome and basal body associated protein |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:17594715 PMID:25741868 PMID:26047050 PMID:26077327 PMID:28492532 PMID:29588463 More...
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NCBI chr 4:119,683,085...119,783,471
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G |
Arl6 |
ARF like GTPase 6 |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:25741868 PMID:34828430 |
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NCBI chr11:40,711,878...40,738,254
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G |
Best1 |
bestrophin 1 |
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ISO |
ClinVar Annotator: match by term: Rod-cone dystrophy |
ClinVar |
PMID:25741868 |
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NCBI chr 1:206,629,340...206,646,085
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G |
Cabp4 |
calcium binding protein 4 |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:19074807 PMID:23714322 PMID:25307992 PMID:25741868 PMID:28492532 PMID:29525873 PMID:29706639 PMID:30718709 PMID:31456290 More...
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NCBI chr 1:201,428,671...201,442,950
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G |
Cacna1f |
calcium voltage-gated channel subunit alpha1 F |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:25741868 PMID:28492532 PMID:30576320 PMID:30718709 PMID:33668843 PMID:35457050 PMID:36909829 More...
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NCBI chr X:14,868,096...14,896,413
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G |
Cacna2d4 |
calcium voltage-gated channel auxiliary subunit alpha2delta 4 |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
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NCBI chr 4:152,408,588...152,521,478
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G |
Cdhr1 |
cadherin-related family member 1 |
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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 PMID:23591405 PMID:24033266 PMID:25741868 PMID:26103963 PMID:26261414 PMID:27353947 PMID:28224992 PMID:28492532 PMID:28765526 PMID:28885867 PMID:29555955 PMID:30718709 PMID:31387115 PMID:31456290 PMID:32037395 PMID:32531858 PMID:32681094 PMID:33546218 PMID:34327195 PMID:34426522 PMID:34795310 PMID:34906470 PMID:35260635 PMID:35627310 PMID:35836572 PMID:36259723 PMID:36460718 More...
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NCBI chr16:12,843,436...12,863,321
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G |
Cep290 |
centrosomal protein 290 |
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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 PMID:29641573 PMID:30193310 PMID:30718709 PMID:31964843 PMID:32865313 More...
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NCBI chr 7:37,196,765...37,285,955
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G |
Cep78 |
centrosomal protein 78 |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:25741868 PMID:27588451 PMID:27588452 PMID:27627988 PMID:28492532 PMID:32531858 More...
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NCBI chr 1:222,674,193...222,702,124
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G |
Cerkl |
CERK like autophagy regulator |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:14681825 PMID:15708351 PMID:16199547 PMID:19578027 PMID:21151602 PMID:22164218 PMID:23591405 PMID:24043777 PMID:24123366 PMID:24625443 PMID:24705292 PMID:25097241 PMID:25525159 PMID:25741868 PMID:25999674 PMID:28041643 PMID:28157192 PMID:28492532 PMID:28559085 PMID:29068140 PMID:29555955 PMID:30337596 PMID:30718709 PMID:31054281 PMID:31082679 PMID:31456290 PMID:31589614 PMID:31964843 PMID:32036094 PMID:32037395 PMID:32411380 PMID:32531858 PMID:32581362 PMID:32865075 PMID:33322828 PMID:33576794 PMID:33749171 PMID:34315337 PMID:34426522 PMID:34758253 PMID:34906470 PMID:35119454 PMID:35456422 PMID:35836572 PMID:36460718 PMID:36819107 PMID:36909829 PMID:221642182 More...
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NCBI chr 3:84,641,121...84,747,999
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G |
Cfap20 |
cilia and flagella associated protein 20 |
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ISO |
ClinVar Annotator: match by term: Rod-cone dystrophy |
ClinVar |
PMID:25741868 PMID:35246562 |
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NCBI chr19:9,608,867...9,622,558
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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 |
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NCBI chr20:10,687,863...10,694,736
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G |
Cfap418 |
cilia and flagella associated protein 418 |
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ISO |
ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive |
ClinVar |
PMID:25741868 |
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NCBI chr 5:23,996,395...24,015,609
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G |
Cln3 |
CLN3 lysosomal/endosomal transmembrane protein, battenin |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:25741868 |
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NCBI chr 1:181,156,071...181,169,458
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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 PMID:28492532 PMID:28981474 PMID:30718709 PMID:32531858 More...
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NCBI chr14:35,566,947...35,605,065
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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 PMID:36909829 More...
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NCBI chr 9:39,447,534...39,494,044
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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 PMID:15161866 PMID:15657609 PMID:15712225 PMID:16379026 PMID:17265047 PMID:19592100 PMID:20079539 PMID:22975760 PMID:23805033 PMID:24033266 PMID:25741868 PMID:25770143 PMID:28041643 PMID:28341476 PMID:28492532 PMID:28746191 PMID:28795510 PMID:28929832 PMID:29053603 PMID:29769798 PMID:30190494 PMID:30337596 PMID:30418171 PMID:30544257 PMID:30609409 PMID:30718709 PMID:31429209 PMID:31816670 PMID:31964843 PMID:31980526 PMID:32036094 PMID:32037395 PMID:32531858 PMID:32581362 PMID:32860008 PMID:33546218 PMID:33562422 PMID:33737949 PMID:33749171 PMID:33851411 PMID:34426522 PMID:34449556 PMID:34758253 PMID:35119454 PMID:35260635 PMID:35456422 PMID:36460718 PMID:36672815 PMID:36909829 More...
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NCBI chr 5:32,746,988...32,995,121
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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 PMID:23767994 More...
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RGD:13451130 |
NCBI chr13:53,352,932...53,540,019
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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 PMID:11748859 PMID:11971869 PMID:12819982 PMID:16123401 PMID:22736939 PMID:24265693 PMID:25525159 PMID:25741868 PMID:26355662 PMID:26992781 PMID:27013732 PMID:27668495 PMID:27884173 PMID:28492532 PMID:29068479 PMID:29847639 PMID:30543658 PMID:30718709 PMID:30910914 PMID:31203166 PMID:31213501 PMID:31215831 PMID:31626798 PMID:31964843 PMID:32165824 PMID:32533067 PMID:33629268 PMID:33691693 PMID:33749171 PMID:33836713 PMID:34426522 PMID:34758253 PMID:35119454 PMID:36284460 PMID:36460718 PMID:36819107 PMID:36909829 More...
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NCBI chr 1:76,539,812...76,553,694
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G |
Dram2 |
DNA damage regulated autophagy modulator 2 |
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ISO ISS |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar MouseDO |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:36909829 |
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NCBI chr 2:194,035,624...194,064,415
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G |
Fam161a |
FAM161 centrosomal protein A |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:20705278 PMID:20705279 PMID:24651477 PMID:25097241 PMID:25525159 PMID:25741868 PMID:25999674 PMID:26113502 PMID:26574802 PMID:28492532 PMID:28559085 PMID:30718709 PMID:31345219 PMID:31589614 PMID:31964843 PMID:32531858 PMID:33576794 PMID:33749171 PMID:34426522 PMID:34758253 PMID:34906470 PMID:35456422 PMID:36819107 More...
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NCBI chr14:97,009,449...97,027,865
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G |
Gnptg |
N-acetylglucosamine-1-phosphate transferase subunit gamma |
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ISO |
ClinVar Annotator: match by term: Rod-cone dystrophy |
ClinVar |
PMID:15060128 PMID:19370764 PMID:20301784 PMID:25741868 PMID:28492532 |
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NCBI chr10:14,252,186...14,257,128
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G |
Gphn |
gephyrin |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:15258582 PMID:16269441 PMID:20006610 PMID:22065924 PMID:23847139 PMID:24474277 PMID:25741868 PMID:27032803 PMID:28157192 PMID:28492532 PMID:29068479 PMID:30029497 PMID:30134391 PMID:31054281 PMID:31456290 PMID:31589614 PMID:31964843 PMID:32014858 PMID:32531858 PMID:32865313 PMID:33090715 PMID:33970760 PMID:34315337 PMID:35775617 PMID:36460718 PMID:36819107 PMID:36909829 More...
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NCBI chr 6:96,954,365...97,483,617
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G |
Guca1a |
guanylate cyclase activator 1A |
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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 |
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NCBI chr 9:13,588,988...13,598,566
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G |
Guca1b |
guanylate cyclase activator 1B |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:24352742 PMID:25741868 |
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NCBI chr 9:13,599,619...13,607,455
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G |
Gucy2e |
guanylate cyclase 2E |
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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 PMID:22183351 PMID:22194653 PMID:22968130 PMID:24480840 PMID:24875811 PMID:25283059 PMID:25741868 PMID:26298565 PMID:28041643 PMID:28181551 PMID:28492532 PMID:29555955 PMID:30319355 PMID:30718709 PMID:31456290 PMID:31736247 PMID:32036094 PMID:32531858 PMID:32581362 PMID:32811265 PMID:32821499 PMID:33546218 PMID:33691693 PMID:33749171 PMID:34048777 PMID:34758253 PMID:34906470 PMID:35119454 PMID:36460718 PMID:36819107 PMID:36909829 More...
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NCBI chr10:54,453,753...54,478,639
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G |
Ift122 |
intraflagellar transport 122 |
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ISO |
ClinVar Annotator: match by term: Rod-cone dystrophy |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 4:148,905,031...148,975,458
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G |
Ift88 |
intraflagellar transport 88 |
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ISO |
ClinVar Annotator: match by term: Rod-cone dystrophy |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr15:31,573,325...31,666,068
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G |
Impg2 |
interphotoreceptor matrix proteoglycan 2 |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:25741868 |
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NCBI chr11:44,318,836...44,418,382
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G |
Inpp5e |
inositol polyphosphate-5-phosphatase E |
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ISO |
ClinVar Annotator: match by term: Rod-cone dystrophy |
ClinVar |
PMID:19668216 PMID:23034536 PMID:23386033 PMID:23847139 PMID:25741868 PMID:25999675 PMID:26075876 PMID:26092869 PMID:27353947 PMID:28125082 PMID:28492532 PMID:28559085 PMID:29146704 PMID:29186038 PMID:31456290 PMID:32483926 PMID:34188062 PMID:34234304 PMID:36909829 More...
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NCBI chr 3:29,614,868...29,627,542
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G |
Itga4 |
integrin subunit alpha 4 |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:25741868 PMID:28492532 PMID:32531858 |
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NCBI chr 3:84,569,487...84,646,276
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G |
Kiaa0586 |
KIAA0586 homolog |
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ISO |
ClinVar Annotator: match by term: Rod-cone dystrophy |
ClinVar |
PMID:20301500 PMID:24033266 PMID:25741868 PMID:25807282 PMID:26026149 PMID:26096313 PMID:26166481 PMID:26386044 PMID:26386247 PMID:26437029 PMID:28125082 PMID:28492532 PMID:29068549 PMID:30120217 PMID:32381069 PMID:32581362 PMID:36788019 PMID:39033378 More...
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NCBI chr 6:95,358,682...95,461,911
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G |
Lrat |
lecithin retinol acyltransferase |
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ISO |
ClinVar Annotator: match by term: Rod-cone dystrophy |
ClinVar |
PMID:25741868 |
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NCBI chr 2:170,562,148...170,571,212
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G |
Mc4r |
melanocortin 4 receptor |
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ISO |
ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive |
ClinVar |
PMID:10903341 PMID:12499395 PMID:12690102 PMID:16507637 PMID:16611215 PMID:18559663 PMID:23791567 PMID:25741868 PMID:25741869 PMID:30004997 More...
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NCBI chr18:62,689,798...62,691,685
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G |
Mfsd8 |
major facilitator superfamily domain containing 8 |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:25741868 PMID:30543658 PMID:36909829 |
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NCBI chr 2:123,822,042...123,847,808
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G |
Mir103a2 |
microRNA 103a-2 |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
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NCBI chr 3:118,510,194...118,510,279
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G |
Mt-atp6 |
mitochondrially encoded ATP synthase membrane subunit 6 |
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ISO |
ClinVar Annotator: match by term: Rod-cone dystrophy |
ClinVar |
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:9199572 PMID:9221962 PMID:9329425 PMID:9556461 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11925565 PMID:14998933 PMID:17452590 PMID:19667215 PMID:19875463 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27450679 PMID:29602698 PMID:32313153 PMID:32906214 More...
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G |
Mt-atp8 |
mitochondrially encoded ATP synthase membrane subunit 8 |
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ISO |
ClinVar Annotator: match by term: Rod-cone dystrophy |
ClinVar |
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:9199572 PMID:9221962 PMID:9329425 PMID:9556461 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11925565 PMID:14998933 PMID:17452590 PMID:19667215 PMID:19875463 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27450679 PMID:29602698 PMID:32313153 PMID:32906214 More...
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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
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G |
Mt-co1 |
mitochondrially encoded cytochrome c oxidase I |
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ISO |
ClinVar Annotator: match by term: Rod-cone dystrophy |
ClinVar |
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:9199572 PMID:9221962 PMID:9329425 PMID:9556461 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11925565 PMID:14998933 PMID:17452590 PMID:19667215 PMID:19875463 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27450679 PMID:29602698 PMID:32313153 PMID:32906214 More...
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G |
Mt-co2 |
mitochondrially encoded cytochrome c oxidase II |
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ISO |
ClinVar Annotator: match by term: Rod-cone dystrophy |
ClinVar |
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:9199572 PMID:9221962 PMID:9329425 PMID:9556461 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11925565 PMID:14998933 PMID:17452590 PMID:19667215 PMID:19875463 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27450679 PMID:29602698 PMID:32313153 PMID:32906214 More...
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G |
Mt-co3 |
mitochondrially encoded cytochrome c oxidase III |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:9199572 PMID:9221962 PMID:9329425 PMID:9556461 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11925565 PMID:14998933 PMID:17452590 PMID:19667215 PMID:19875463 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27450679 PMID:29602698 PMID:32313153 PMID:32906214 More...
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G |
Mt-nd1 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 |
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ISO |
ClinVar Annotator: match by term: Rod-cone dystrophy |
ClinVar |
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:9199572 PMID:9221962 PMID:9329425 PMID:9556461 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11925565 PMID:14998933 PMID:17452590 PMID:19667215 PMID:19875463 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27450679 PMID:29602698 PMID:32313153 PMID:32906214 More...
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NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694
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G |
Mt-nd2 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 |
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ISO |
ClinVar Annotator: match by term: Rod-cone dystrophy |
ClinVar |
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:9199572 PMID:9221962 PMID:9329425 PMID:9556461 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11925565 PMID:14998933 PMID:17452590 PMID:19667215 PMID:19875463 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27450679 PMID:29602698 PMID:32313153 PMID:32906214 More...
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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
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G |
Mt-nd3 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 |
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ISO |
ClinVar Annotator: match by term: Rod-cone dystrophy |
ClinVar |
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:9199572 PMID:9221962 PMID:9329425 PMID:9556461 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11925565 PMID:14998933 PMID:17452590 PMID:19667215 PMID:19875463 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27450679 PMID:29602698 PMID:32313153 PMID:32906214 More...
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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
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G |
Mt-nd4 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 |
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ISO |
ClinVar Annotator: match by term: Rod-cone dystrophy |
ClinVar |
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:9199572 PMID:9221962 PMID:9329425 PMID:9556461 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11925565 PMID:14998933 PMID:17452590 PMID:19667215 PMID:19875463 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27450679 PMID:29602698 PMID:32313153 PMID:32906214 More...
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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
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G |
Mt-nd4l |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L |
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ISO |
ClinVar Annotator: match by term: Rod-cone dystrophy |
ClinVar |
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:9199572 PMID:9221962 PMID:9329425 PMID:9556461 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11925565 PMID:14998933 PMID:17452590 PMID:19667215 PMID:19875463 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27450679 PMID:29602698 PMID:32313153 PMID:32906214 More...
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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
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G |
Mt-nd5 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 |
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ISO |
ClinVar Annotator: match by term: Rod-cone dystrophy |
ClinVar |
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:9199572 PMID:9221962 PMID:9329425 PMID:9556461 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11925565 PMID:14998933 PMID:17452590 PMID:19667215 PMID:19875463 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27450679 PMID:29602698 PMID:32313153 PMID:32906214 More...
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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
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G |
Nmnat1 |
nicotinamide nucleotide adenylyltransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:25741868 PMID:26316326 PMID:28492532 |
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NCBI chr 5:159,910,242...159,928,201
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G |
Nr2e3 |
nuclear receptor subfamily 2, group E, member 3 |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:10655056 PMID:15459973 PMID:16199547 PMID:18294254 PMID:19273793 PMID:19718767 PMID:21217109 PMID:21686439 PMID:23591405 PMID:23989059 PMID:24474277 PMID:25079116 PMID:25097241 PMID:25703721 PMID:25741868 PMID:26894784 PMID:27522502 PMID:27573156 PMID:28041643 PMID:28224992 PMID:28492532 PMID:28559085 PMID:28771251 PMID:29193891 PMID:29343940 PMID:29431110 PMID:30324420 PMID:30718709 PMID:31130284 PMID:31306293 PMID:31456290 PMID:31589614 PMID:31725702 PMID:31816670 PMID:31877679 PMID:31964843 PMID:31980526 PMID:32037395 PMID:32531858 PMID:32552793 PMID:32581362 PMID:32679203 PMID:33138239 PMID:33749171 PMID:34426522 PMID:34906470 |