|
G |
Abca4 |
ATP binding cassette subfamily A member 4 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:8533764 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:10509673 PMID:10612508 PMID:10634594 PMID:10634626 PMID:10711710 PMID:10746567 PMID:10880298 PMID:10958761 PMID:10958763 PMID:11017087 PMID:11123914 PMID:11328725 PMID:11379881 PMID:11385708 PMID:11444963 PMID:11527935 PMID:11594993 PMID:11687513 PMID:11702214 PMID:11726554 PMID:11818392 PMID:11846518 PMID:11857735 PMID:11919200 PMID:11973624 PMID:12037008 PMID:12192456 PMID:12202497 PMID:12515255 PMID:12592048 PMID:12796258 PMID:12962493 PMID:14517951 PMID:14709597 PMID:15108289 PMID:15161829 PMID:15192030 PMID:15494742 PMID:15516930 PMID:15579991 PMID:15614537 PMID:16103129 PMID:16123440 PMID:16199547 PMID:16303926 PMID:16400609 PMID:16533065 PMID:16546111 PMID:16682602 PMID:16703556 PMID:16896346 PMID:16917483 PMID:17277736 PMID:17296903 PMID:17325136 PMID:17325179 PMID:17562343 PMID:17576681 PMID:17893657 PMID:17932850 PMID:17982420 PMID:18024811 PMID:18285826 PMID:18334942 PMID:18414213 PMID:18652558 PMID:18854780 PMID:18977788 PMID:19028736 PMID:19074458 PMID:19217903 PMID:19243736 PMID:19265867 PMID:19339744 PMID:19352439 PMID:19365591 PMID:20029649 PMID:20335603 PMID:20404325 PMID:20554613 PMID:20647261 PMID:20696155 PMID:20852892 PMID:20960624 PMID:20981092 PMID:21293320 PMID:21296825 PMID:21330655 PMID:21786275 PMID:21873672 PMID:21911583 PMID:22025579 PMID:22076985 PMID:22229821 PMID:22247458 PMID:22264887 PMID:22312191 PMID:22328824 PMID:22334370 PMID:22395892 PMID:22427542 PMID:22449572 PMID:22589445 PMID:22661472 PMID:22661473 PMID:22735453 PMID:22863181 PMID:22968130 PMID:22995991 PMID:23096905 PMID:23105016 PMID:23143460 PMID:23144455 PMID:23341817 PMID:23419329 PMID:23424971 PMID:23443024 PMID:23499370 PMID:23591405 PMID:23695285 PMID:23755871 PMID:23769331 PMID:23776498 PMID:23918662 PMID:23940504 PMID:23953153 PMID:23982839 PMID:24011517 PMID:24020726 PMID:24033266 PMID:24082139 PMID:24097981 PMID:24154662 PMID:24265693 PMID:24273789 PMID:24342785 PMID:24409374 PMID:24444108 PMID:24453473 PMID:24509150 PMID:24550365 PMID:24632595 PMID:24677105 PMID:24713488 PMID:24743636 PMID:24763286 PMID:24938718 PMID:25066811 PMID:25082829 PMID:25082885 PMID:25087612 PMID:25097241 PMID:25283059 PMID:25301883 PMID:25312043 PMID:25333069 PMID:25346251 PMID:25356976 PMID:25412400 PMID:25444351 PMID:25472526 PMID:25474345 PMID:25525159 PMID:25544989 PMID:25640233 PMID:25681002 PMID:25698705 PMID:25712131 PMID:25741868 PMID:25884411 PMID:25910913 PMID:25921964 PMID:25922843 PMID:25999674 PMID:26024099 PMID:26047050 PMID:26092729 PMID:26103963 PMID:26161775 PMID:26229699 PMID:26230768 PMID:26247787 PMID:26261413 PMID:26355662 PMID:26377081 PMID:26527198 PMID:26551331 PMID:26593885 PMID:26720470 PMID:26743751 PMID:26780318 PMID:26872967 PMID:26976702 PMID:26992781 PMID:27030965 PMID:27032803 PMID:27208204 PMID:27353947 PMID:27367509 PMID:27535533 PMID:27583828 PMID:27699414 PMID:27739528 PMID:27775217 PMID:27820952 PMID:27939946 PMID:28041643 PMID:28044389 PMID:28118664 PMID:28130426 PMID:28147405 PMID:28181551 PMID:28224992 PMID:28248825 PMID:28327576 PMID:28341476 PMID:28355279 PMID:28365912 PMID:28430335 PMID:28446513 PMID:28492532 PMID:28512305 PMID:28559085 PMID:28771251 PMID:28947085 PMID:29068140 PMID:29099798 PMID:29114839 PMID:29145636 PMID:29162642 PMID:29178665 PMID:29186038 PMID:29310964 PMID:29343940 PMID:29422768 PMID:29461686 PMID:29526278 PMID:29555955 PMID:29641573 PMID:29847635 PMID:29847651 PMID:29848554 PMID:29854428 PMID:29925512 PMID:29975949 PMID:30029497 PMID:30054919 PMID:30060493 PMID:30093795 PMID:30190494 PMID:30337596 PMID:30576320 PMID:30670881 PMID:30718709 PMID:30798147 PMID:30820146 PMID:30834176 PMID:30903310 PMID:31015497 PMID:31144483 PMID:31212395 PMID:31213501 PMID:31318848 PMID:31397521 PMID:31456290 PMID:31522899 PMID:31543898 PMID:31576780 PMID:31736247 PMID:31766579 PMID:31790517 PMID:31814693 PMID:31884623 PMID:31934596 PMID:31964843 PMID:31968401 PMID:32016942 PMID:32036094 PMID:32037395 PMID:32141364 PMID:32235935 PMID:32278709 PMID:32307445 PMID:32483926 PMID:32531858 PMID:32581362 PMID:32619608 PMID:32627976 PMID:32783370 PMID:32821503 PMID:32845050 PMID:32893963 PMID:33090715 PMID:33129279 PMID:33223529 PMID:33261146 PMID:33301772 PMID:33375396 PMID:33546218 PMID:33691693 PMID:33732702 PMID:33841504 PMID:33851411 PMID:34008892 PMID:34073554 PMID:34321860 PMID:34874912 PMID:34906470 PMID:35119454 PMID:35260635 PMID:35886001 PMID:35903041 PMID:36178783 PMID:36209838 PMID:36284670 PMID:36460718 PMID:36672815 PMID:36909829 PMID:37331482 PMID:92952680 More...
|
|
NCBI chrNW_004936537:4,969,456...5,326,682
Ensembl chrNW_004936537:5,202,093...5,323,527
|
|
G |
Abhd12 |
abhydrolase domain containing 12, lysophospholipase |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:22938382 PMID:25741868 PMID:28041643 PMID:28492532 |
|
NCBI chrNW_004936620:451,216...531,353
Ensembl chrNW_004936620:451,174...531,454
|
|
G |
Aco2 |
aconitase 2 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:25741868 PMID:27528516 PMID:28492532 PMID:32483926 PMID:34056600 |
|
NCBI chrNW_004936492:407,482...452,538
Ensembl chrNW_004936492:407,482...452,537
|
|
G |
Adgra3 |
adhesion G protein-coupled receptor A3 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:25741868 PMID:28492532 PMID:28714225 |
|
NCBI chrNW_004936477:6,531,506...6,637,628
Ensembl chrNW_004936477:6,531,501...6,638,135
|
|
G |
Adgrv1 |
adhesion G protein-coupled receptor V1 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:16199547 PMID:19357117 PMID:22135276 PMID:22147658 PMID:23462753 PMID:24033266 PMID:24154662 PMID:25133751 PMID:25404053 PMID:25412400 PMID:25741868 PMID:26226137 PMID:26467025 PMID:26969326 PMID:27068579 PMID:27460420 PMID:28041643 PMID:28492532 PMID:30311386 PMID:30718709 PMID:31047384 PMID:31456290 PMID:31980526 PMID:32037395 PMID:32467589 PMID:32581362 More...
|
|
NCBI chrNW_004936469:8,653,031...9,209,840
|
|
G |
Adipor1 |
adiponectin receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936567:1,658,405...1,674,794
Ensembl chrNW_004936567:1,658,383...1,676,199
|
|
G |
Agbl5 |
AGBL carboxypeptidase 5 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936493:5,470,623...5,488,542
Ensembl chrNW_004936493:5,469,449...5,488,549
|
|
G |
Ahi1 |
Abelson helper integration site 1 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:15322546 PMID:16155189 PMID:16453322 PMID:18054307 PMID:21068128 PMID:21937992 PMID:24033266 PMID:25525159 PMID:25616960 PMID:25741868 PMID:26035800 PMID:26092869 PMID:28041643 PMID:28442542 PMID:28492532 PMID:29186038 PMID:34191236 PMID:36819107 More...
|
|
NCBI chrNW_004936560:2,881,631...3,057,256
Ensembl chrNW_004936560:2,881,977...3,038,725
|
|
G |
Aipl1 |
aryl hydrocarbon receptor interacting protein like 1 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:10615133 PMID:10873396 PMID:15249368 PMID:15347646 PMID:20301475 PMID:21474771 PMID:22412862 PMID:25596619 PMID:25741868 PMID:25799540 PMID:28041643 PMID:28492532 PMID:30718709 PMID:33067476 PMID:33938912 More...
|
|
NCBI chrNW_004936677:1,539,502...1,548,343
Ensembl chrNW_004936677:1,538,874...1,548,010
|
|
G |
Alms1 |
ALMS1 centrosome and basal body associated protein |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:11941369 PMID:11941370 PMID:15689433 PMID:16720663 PMID:17594715 PMID:21157496 PMID:21897446 PMID:22555271 PMID:23847139 PMID:24595103 PMID:25706677 PMID:25741868 PMID:25846608 PMID:26066530 PMID:28041643 PMID:28492532 PMID:30064963 PMID:31810438 PMID:32349990 PMID:32396277 PMID:32867697 PMID:32944671 PMID:34148116 PMID:34906470 More...
|
|
NCBI chrNW_004936491:17,152,759...17,342,648
|
|
G |
Arhgef18 |
Rho/Rac guanine nucleotide exchange factor 18 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936588:4,522,517...4,572,551
Ensembl chrNW_004936588:4,514,691...4,572,518
|
|
G |
Arl2bp |
ADP ribosylation factor like GTPase 2 binding protein |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:25741868 PMID:27790702 PMID:28041643 PMID:28492532 PMID:30210231 PMID:32581362 More...
|
|
NCBI chrNW_004936475:9,343,333...9,352,089
Ensembl chrNW_004936475:9,343,336...9,352,065
|
|
G |
Arl3 |
ADP ribosylation factor like GTPase 3 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:25741868 PMID:28492532 PMID:33748123 |
|
NCBI chrNW_004936600:3,190,212...3,229,831
Ensembl chrNW_004936600:3,190,208...3,232,755
|
|
G |
Arl6 |
ADP ribosylation factor like GTPase 6 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:17160889 PMID:20177705 PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936666:3,077,006...3,102,469
Ensembl chrNW_004936666:3,076,778...3,103,649
|
|
G |
Atp5me |
ATP synthase membrane subunit e |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:8394174 PMID:8595886 PMID:22334370 PMID:25741868 PMID:27588261 PMID:28492532 More...
|
|
NCBI chrNW_004936477:22,416,505...22,417,543
Ensembl chrNW_004936477:22,416,539...22,417,543
|
|
G |
Atrip |
ATR interacting protein |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936529:245,134...264,456
Ensembl chrNW_004936529:245,092...264,351
|
|
G |
Bbs1 |
Bardet-Biedl syndrome 1 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:9536098 PMID:12118255 PMID:12524598 PMID:12677556 PMID:12837689 PMID:12920096 PMID:15314642 PMID:15770229 PMID:16199547 PMID:17003356 PMID:17065520 PMID:17576681 PMID:17980398 PMID:18032602 PMID:18669544 PMID:18766993 PMID:20120035 PMID:20177705 PMID:20301537 PMID:20472660 PMID:20498079 PMID:21052717 PMID:21344540 PMID:21520335 PMID:21642631 PMID:22581970 PMID:22773737 PMID:22940089 PMID:22998390 PMID:23143442 PMID:23565731 PMID:23847139 PMID:23943788 PMID:24033266 PMID:25326635 PMID:25741868 PMID:25780760 PMID:26261414 PMID:26467025 PMID:26872967 PMID:27032803 PMID:27659767 PMID:28041643 PMID:28224992 PMID:28492532 PMID:28559085 PMID:29264490 PMID:30076350 PMID:30614526 PMID:30718709 PMID:31213501 PMID:33532864 PMID:34940782 PMID:36909829 More...
|
|
NCBI chrNW_004936599:3,059,274...3,076,853
Ensembl chrNW_004936599:3,059,148...3,076,299
|
|
G |
Bbs10 |
Bardet-Biedl syndrome 10 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:16582908 PMID:20080638 PMID:20120035 PMID:20177705 PMID:20472660 PMID:20498079 PMID:20805367 PMID:20876674 PMID:21044901 PMID:21052717 PMID:21157496 PMID:21209035 PMID:21344540 PMID:21517826 PMID:21642631 PMID:22410627 PMID:22773737 PMID:24033266 PMID:24400638 PMID:24746959 PMID:25741868 PMID:25982971 PMID:26003401 PMID:26467025 PMID:27385962 PMID:27486776 PMID:27659767 PMID:27788217 PMID:28041643 PMID:28143435 PMID:28492532 PMID:28808579 PMID:30614526 PMID:30718709 More...
|
|
NCBI chrNW_004936568:4,640,611...4,644,627
Ensembl chrNW_004936568:4,638,637...4,644,502
|
|
G |
Bbs12 |
Bardet-Biedl syndrome 12 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:17160889 PMID:20080638 PMID:20120035 PMID:20472660 PMID:20498079 PMID:20648243 PMID:20827784 PMID:21209035 PMID:21463199 PMID:21642631 PMID:22410627 PMID:24611592 PMID:25741868 PMID:25982971 PMID:26489029 PMID:27659767 PMID:28492532 PMID:30614526 PMID:30718709 PMID:31196119 PMID:31964843 PMID:32531858 PMID:33046855 More...
|
|
NCBI chrNW_004936662:1,822,727...1,832,403
Ensembl chrNW_004936662:1,830,137...1,832,263
|
|
G |
Bbs2 |
Bardet-Biedl syndrome 2 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:11285252 PMID:11567139 PMID:12016587 PMID:12677556 PMID:12837689 PMID:12920096 PMID:15666242 PMID:16199547 PMID:19402160 PMID:19797195 PMID:20120035 PMID:20177705 PMID:20498079 PMID:21052717 PMID:21344540 PMID:21463199 PMID:21642631 PMID:22401627 PMID:22410627 PMID:22773737 PMID:23829372 PMID:24280758 PMID:24608809 PMID:25133751 PMID:25412400 PMID:25525159 PMID:25541840 PMID:25611614 PMID:25741868 PMID:26325687 PMID:26355662 PMID:26467025 PMID:26518167 PMID:27353947 PMID:27659767 PMID:27708425 PMID:27894351 PMID:28374938 PMID:28418496 PMID:28492532 PMID:28559085 PMID:29588463 PMID:30029678 PMID:30718709 PMID:31283077 PMID:31456290 PMID:31530639 PMID:31877679 PMID:31960602 PMID:31980526 PMID:32037395 PMID:33520300 PMID:33777945 PMID:33921607 PMID:34906470 PMID:35112343 PMID:35886001 More...
|
|
NCBI chrNW_004936475:8,785,914...8,810,490
Ensembl chrNW_004936475:8,785,154...8,810,541
|
|
G |
Bbs4 |
Bardet-Biedl syndrome 4 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:9536098 PMID:11381270 PMID:12016587 PMID:16199547 PMID:17576681 PMID:20177705 PMID:25741868 PMID:27208204 PMID:27894351 PMID:28492532 More...
|
|
NCBI chrNW_004936471:31,962,500...32,019,516
Ensembl chrNW_004936471:31,962,336...32,020,712
|
|
G |
Bbs5 |
Bardet-Biedl syndrome 5 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:15137946 PMID:16199547 PMID:16877420 PMID:21209035 PMID:25741868 PMID:26325687 PMID:27708425 PMID:28041643 PMID:28492532 PMID:29806606 More...
|
|
NCBI chrNW_004936509:25,263...45,113
Ensembl chrNW_004936509:25,602...45,145
|
|
G |
Bbs7 |
Bardet-Biedl syndrome 7 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:12567324 PMID:19402160 PMID:21209035 PMID:23462753 PMID:25741868 PMID:28492532 PMID:31196119 PMID:32448990 PMID:33777945 More...
|
|
NCBI chrNW_004936662:1,081,237...1,116,719
Ensembl chrNW_004936662:1,080,295...1,116,636
|
|
G |
Bbs9 |
Bardet-Biedl syndrome 9 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:16380913 PMID:20177705 PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936478:8,959,198...9,408,683
Ensembl chrNW_004936478:8,959,121...9,408,714
|
|
G |
Best1 |
bestrophin 1 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:2133066 PMID:9536098 PMID:9662395 PMID:9700209 PMID:10331951 PMID:10394929 PMID:10788642 PMID:10798642 PMID:10854112 PMID:11585313 PMID:11756879 PMID:11904445 PMID:12565808 PMID:13129869 PMID:13534955 PMID:14205432 PMID:15452077 PMID:16286623 PMID:16754206 PMID:16769844 PMID:17065513 PMID:17110374 PMID:17576681 PMID:18179881 PMID:18289629 PMID:18844018 PMID:18985398 PMID:19375515 PMID:19597114 PMID:19853238 PMID:20057343 PMID:20375334 PMID:20381869 PMID:20927214 PMID:21072067 PMID:21109774 PMID:21192766 PMID:21269699 PMID:21273940 PMID:21320969 PMID:21330666 PMID:21436265 PMID:21473666 PMID:21809908 PMID:21825197 PMID:21878505 PMID:23213274 PMID:23290749 PMID:23825107 PMID:23880862 PMID:24560797 PMID:25082885 PMID:25174897 PMID:25324289 PMID:25489231 PMID:25741868 PMID:26200502 PMID:26201355 PMID:26310487 PMID:26333019 PMID:26418331 PMID:26720466 PMID:26771239 PMID:27071392 PMID:27078032 PMID:27193166 PMID:27519691 PMID:28041643 PMID:28225368 PMID:28492532 PMID:28559085 PMID:28687848 PMID:29115605 PMID:29215532 PMID:29555955 PMID:29668979 PMID:29781975 PMID:29847639 PMID:29976937 PMID:30498755 PMID:30582078 PMID:30593719 PMID:30718709 PMID:31519547 PMID:32239196 PMID:32321300 PMID:33090715 PMID:33546218 PMID:33946315 PMID:36909829 More...
|
|
NCBI chrNW_004936581:1,120,681...1,132,226
Ensembl chrNW_004936581:1,120,474...1,132,230
|
|
G |
C1qtnf5 |
C1q and TNF related 5 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:12140190 PMID:12944416 PMID:15976030 PMID:16199547 PMID:20361016 PMID:22142163 PMID:23289492 PMID:24531000 PMID:25097241 PMID:25326637 PMID:25741868 PMID:28041643 PMID:28224992 PMID:28492532 PMID:28939808 PMID:29847639 PMID:31992737 PMID:32036094 More...
|
|
NCBI chrNW_004936542:4,269,636...4,271,497
Ensembl chrNW_004936542:4,269,636...4,271,610
|
|
G |
Ca4 |
carbonic anhydrase 4 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:17652713 PMID:19211803 PMID:20450258 PMID:25741868 PMID:28492532 PMID:30718709 PMID:33022222 More...
|
|
NCBI chrNW_004936490:1,764,845...1,773,752
Ensembl chrNW_004936490:1,764,795...1,774,645
|
|
G |
Cabp4 |
calcium binding protein 4 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:25307992 PMID:25741868 PMID:28041643 PMID:28341476 PMID:28492532 PMID:29525873 PMID:30718709 More...
|
|
NCBI chrNW_004936599:2,295,124...2,299,558
Ensembl chrNW_004936599:2,293,000...2,300,322
|
|
G |
Cacna1f |
calcium voltage-gated channel subunit alpha1 F |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:9662399 PMID:11281458 PMID:12552565 PMID:17525176 PMID:19578023 PMID:22194652 PMID:24124559 PMID:25307992 PMID:25741868 PMID:26992781 PMID:28002560 PMID:28041643 PMID:28492532 PMID:30718709 More...
|
|
NCBI chrNW_004936721:1,078,570...1,106,153
Ensembl chrNW_004936721:1,078,650...1,106,113
|
|
G |
Cacna2d4 |
calcium voltage-gated channel auxiliary subunit alpha2delta 4 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936606:2,011,454...2,118,255
Ensembl chrNW_004936606:2,012,156...2,118,167
|
|
G |
Capn5 |
calpain 5 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936498:5,692,910...5,747,329
Ensembl chrNW_004936498:5,692,867...5,748,416
|
|
G |
Cc2d2a |
coiled-coil and C2 domain containing 2A |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:19777577 PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936477:12,315,829...12,415,915
Ensembl chrNW_004936477:12,315,799...12,408,603
|
|
G |
Cd63 |
CD63 molecule |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:11675386 PMID:20829743 PMID:22815624 PMID:23462753 PMID:28492532 PMID:29847639 More...
|
|
NCBI chrNW_004936646:196,002...199,177
Ensembl chrNW_004936646:191,128...199,777
|
|
G |
Cdh3 |
cadherin 3 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936475:18,908,031...18,954,402
Ensembl chrNW_004936475:18,906,493...18,955,072
|
|
G |
Cdhr1 |
cadherin related family member 1 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:20087419 PMID:23044944 PMID:23233793 PMID:23591405 PMID:24033266 PMID:25741868 PMID:26103963 PMID:26261414 PMID:26350383 PMID:26766544 PMID:27353947 PMID:27623334 PMID:28041643 PMID:28224992 PMID:28418496 PMID:28492532 PMID:28765526 PMID:28885867 PMID:29555955 PMID:30718709 PMID:31387115 PMID:32681094 PMID:33546218 PMID:34795310 PMID:34906470 PMID:35627310 More...
|
|
NCBI chrNW_004936767:805,910...829,838
Ensembl chrNW_004936767:805,558...827,712
|
|
G |
Cdkl5 |
cyclin dependent kinase like 5 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:618178 PMID:9326935 PMID:9536098 PMID:9618178 PMID:9760195 PMID:10220153 PMID:10234514 PMID:10533068 PMID:10589241 PMID:10636421 PMID:10636740 PMID:10922205 PMID:10947001 PMID:12417531 PMID:12746437 PMID:12920343 PMID:12928282 PMID:15932525 PMID:15937075 PMID:16167295 PMID:16361673 PMID:16900931 PMID:17172462 PMID:17296904 PMID:17304551 PMID:17515881 PMID:17576681 PMID:17615541 PMID:17987333 PMID:18369700 PMID:18541843 PMID:18834580 PMID:19093009 PMID:19324861 PMID:19390641 PMID:20061330 PMID:20809529 PMID:21701876 PMID:22110067 PMID:22245991 PMID:22332228 PMID:23288992 PMID:23453514 PMID:23514609 PMID:23568735 PMID:23847049 PMID:24634885 PMID:25525159 PMID:25741868 PMID:25799783 PMID:26356828 PMID:26872967 PMID:27032803 PMID:27246168 PMID:27788217 PMID:28221463 PMID:28272453 PMID:28348004 PMID:28492532 PMID:28559085 PMID:29851975 PMID:29902095 PMID:30551202 PMID:30652005 PMID:30923717 PMID:31087526 PMID:31725702 PMID:32300273 PMID:33460243 PMID:33546218 PMID:33781268 PMID:34624300 PMID:34822951 PMID:35456481 More...
|
|
NCBI chrNW_004936844:101,815...271,254
Ensembl chrNW_004936844:160,833...271,901
|
|
G |
Cep164 |
centrosomal protein 164 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936542:2,544,677...2,609,753
Ensembl chrNW_004936542:2,544,665...2,609,792
|
|
G |
Cep250 |
centrosomal protein 250 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:25741868 PMID:28005958 PMID:28492532 |
|
NCBI chrNW_004936561:5,283,258...5,331,688
Ensembl chrNW_004936561:5,280,959...5,322,038
|
|
G |
Cep290 |
centrosomal protein 290 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:16199547 PMID:16682970 PMID:16682973 PMID:16909394 PMID:17345604 PMID:17564967 PMID:17564974 PMID:17705300 PMID:17964524 PMID:18414213 PMID:19466712 PMID:19764032 PMID:20301475 PMID:20683928 PMID:20690115 PMID:21068128 PMID:21245082 PMID:21602930 PMID:22355252 PMID:22693042 PMID:22699515 PMID:23034536 PMID:23188109 PMID:23343883 PMID:23344081 PMID:23559409 PMID:23591405 PMID:23847139 PMID:23954617 PMID:25097241 PMID:25324289 PMID:25377065 PMID:25445212 PMID:25525159 PMID:25741868 PMID:25818971 PMID:25920555 PMID:26047050 PMID:26092869 PMID:26467025 PMID:26673778 PMID:27032803 PMID:27208204 PMID:27353947 PMID:27375279 PMID:27434533 PMID:27491411 PMID:27894351 PMID:28041643 PMID:28418496 PMID:28492532 PMID:28497568 PMID:28510626 PMID:28559085 PMID:28660274 PMID:28829391 PMID:28966547 PMID:28973549 PMID:29178642 PMID:29217415 PMID:29398085 PMID:29771326 PMID:29844330 PMID:30718709 PMID:30776697 PMID:30897646 PMID:30902645 PMID:31091803 PMID:31411728 PMID:31456290 PMID:31680349 PMID:31734136 PMID:31884610 PMID:32036094 PMID:32037395 PMID:32139166 PMID:32865313 PMID:33546218 PMID:33576794 PMID:33924653 PMID:33946315 PMID:34321860 PMID:35764379 PMID:35836572 PMID:36460718 PMID:36909829 PMID:37008293 More...
|
|
NCBI chrNW_004936507:5,223,756...5,305,392
Ensembl chrNW_004936507:5,221,910...5,305,422
|
|
G |
Cep78 |
centrosomal protein 78 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:16199547 PMID:27588451 PMID:27588452 PMID:27627988 PMID:28492532 |
|
NCBI chrNW_004936503:13,524,981...13,537,449
|
|
G |
Cerkl |
ceramide kinase like |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:14681825 PMID:15708351 PMID:16199547 PMID:18978954 PMID:19501188 PMID:19578027 PMID:20554613 PMID:21151602 PMID:22164218 PMID:23591405 PMID:23661369 PMID:24043777 PMID:24123366 PMID:24498393 PMID:24625443 PMID:24705292 PMID:24735978 PMID:25097241 PMID:25356976 PMID:25741868 PMID:25999674 PMID:27208204 PMID:28041643 PMID:28130426 PMID:28492532 PMID:28559085 PMID:28838317 PMID:29068140 PMID:30718709 PMID:31816670 PMID:32037395 PMID:33322828 PMID:34315337 PMID:34906470 PMID:35318874 PMID:36909829 PMID:221642182 More...
|
|
NCBI chrNW_004936509:10,294,247...10,404,743
Ensembl chrNW_004936509:10,294,988...10,404,609
|
|
G |
Cfap410 |
cilia and flagella associated protein 410 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23105016 PMID:25741868 PMID:26167768 PMID:26974433 PMID:26992781 PMID:27548899 PMID:27596865 PMID:28041643 PMID:28422394 PMID:28492532 PMID:30029497 PMID:32036094 PMID:33307614 PMID:34906470 PMID:36909829 More...
|
|
NCBI chrNW_004936500:82,702...90,525
Ensembl chrNW_004936500:82,716...90,523
|
|
G |
Cfap418 |
cilia and flagella associated protein 418 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936544:8,170,841...8,192,896
Ensembl chrNW_004936544:8,170,081...8,192,835
|
|
G |
Chm |
CHM Rab escort protein |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:1044764 PMID:1598901 PMID:9067750 PMID:9175730 PMID:9536098 PMID:10447648 PMID:11139690 PMID:12203991 PMID:12827496 PMID:16199547 PMID:16936131 PMID:17576681 PMID:19422966 PMID:19427510 PMID:21905166 PMID:23811034 PMID:25741868 PMID:25912515 PMID:26133251 PMID:27247961 PMID:28041643 PMID:28098911 PMID:28112135 PMID:28492532 PMID:28559085 PMID:28752371 PMID:29555028 PMID:30297895 PMID:30541579 PMID:30718709 PMID:36909829 More...
|
|
NCBI chrNW_004936547:6,368,941...6,533,199
Ensembl chrNW_004936547:6,368,918...6,533,237
|
|
G |
Cln3 |
CLN3 lysosomal/endosomal transmembrane protein, battenin |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:9311735 PMID:9450775 PMID:10332042 PMID:16291725 PMID:18414213 PMID:19132115 PMID:19135632 PMID:21499717 PMID:21990111 PMID:22545070 PMID:24154662 PMID:25741868 PMID:26766544 PMID:27486012 PMID:28041643 PMID:28224992 PMID:28492532 PMID:28542676 PMID:28559085 PMID:29049447 PMID:32581362 PMID:32685355 PMID:33507216 PMID:34906470 PMID:36909829 More...
|
|
NCBI chrNW_004936501:11,955,334...11,967,338
Ensembl chrNW_004936501:11,955,184...11,967,436
|
|
G |
Clrn1 |
clarin 1 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:11524702 PMID:12080385 PMID:12145752 PMID:14569126 PMID:15521980 PMID:16028794 PMID:17893653 PMID:18281613 PMID:19423712 PMID:19753315 PMID:21310491 PMID:22787034 PMID:22952768 PMID:23304067 PMID:24033266 PMID:24498627 PMID:25268133 PMID:25741868 PMID:25743179 PMID:26180195 PMID:26338283 PMID:27610647 PMID:28041643 PMID:28224992 PMID:28471114 PMID:28492532 PMID:29545425 PMID:31213501 PMID:31836858 PMID:31960602 PMID:31963381 PMID:34906470 PMID:35481838 More...
|
|
NCBI chrNW_004936758:1,250,831...1,286,016
Ensembl chrNW_004936758:1,250,769...1,285,376
|
|
G |
Cnga1 |
cyclic nucleotide gated channel subunit alpha 1 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:7479749 PMID:12362048 PMID:23462753 PMID:24033266 PMID:24154662 PMID:24265693 PMID:25268133 PMID:25326637 PMID:25611614 PMID:25741868 PMID:26306921 PMID:26496393 PMID:26802146 PMID:27208204 PMID:28041643 PMID:28492532 PMID:28981474 PMID:30337596 PMID:30543658 PMID:30718709 PMID:31456290 PMID:32037395 PMID:32531858 PMID:34906470 More...
|
|
NCBI chrNW_004936482:14,091,343...14,107,793
Ensembl chrNW_004936482:14,091,913...14,107,787
|
|
G |
Cnga3 |
cyclic nucleotide gated channel subunit alpha 3 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:9662398 PMID:11536077 PMID:14757870 PMID:15712225 PMID:15743887 PMID:15980212 PMID:16961972 PMID:17265047 PMID:17693388 PMID:18445228 PMID:18521937 PMID:20088482 PMID:20238023 PMID:20506298 PMID:21268679 PMID:21778272 PMID:23972307 PMID:24033266 PMID:24148654 PMID:24504161 PMID:24676353 PMID:24903488 PMID:24906859 PMID:25168900 PMID:25283059 PMID:25616768 PMID:25637600 PMID:25741868 PMID:25943428 PMID:26407004 PMID:26493561 PMID:26992781 PMID:27208204 PMID:27820752 PMID:28041643 PMID:28159970 PMID:28341476 PMID:28492532 PMID:28559085 PMID:29099798 PMID:29618791 PMID:30289319 PMID:30337596 PMID:30653986 PMID:30682209 PMID:30711023 PMID:31456290 PMID:32531858 PMID:32783370 PMID:32913385 PMID:33546218 PMID:35119454 PMID:35332618 PMID:36259723 PMID:36980963 More...
|
|
NCBI chrNW_004936744:1,499,431...1,537,784
Ensembl chrNW_004936744:1,514,821...1,540,580
|
|
G |
Cngb1 |
cyclic nucleotide gated channel subunit beta 1 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:15557452 PMID:16199547 PMID:21147909 PMID:21987686 PMID:23105016 PMID:24043777 PMID:25741868 PMID:25943428 PMID:25999674 PMID:26355662 PMID:26667666 PMID:26894784 PMID:27854218 PMID:27874104 PMID:28041643 PMID:28056120 PMID:28224992 PMID:28492532 PMID:28559085 PMID:29068140 PMID:29202463 PMID:29912909 PMID:30718709 PMID:31456290 PMID:31725169 PMID:32531858 PMID:33465333 PMID:33576794 PMID:33847019 PMID:34906470 More...
|
|
NCBI chrNW_004936475:9,844,438...9,908,009
|
|
G |
Cngb3 |
cyclic nucleotide gated channel subunit beta 3 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:1347967 PMID:9536098 PMID:10888875 PMID:10958649 PMID:12815043 PMID:14757870 PMID:15161866 PMID:15459792 PMID:15657609 PMID:15712225 PMID:16199547 PMID:16319819 PMID:16379026 PMID:17265047 PMID:17576681 PMID:17652762 PMID:19592100 PMID:20079539 PMID:20574029 PMID:23805033 PMID:24033266 PMID:24148654 PMID:25205868 PMID:25525159 PMID:25558176 PMID:25741868 PMID:25770143 PMID:27479814 PMID:27874104 PMID:28041643 PMID:28492532 PMID:28795510 PMID:29186038 PMID:29769798 PMID:30544257 PMID:30718709 PMID:32860008 PMID:33546218 PMID:35119454 PMID:36909829 More...
|
|
NCBI chrNW_004936544:1,166,896...1,305,339
Ensembl chrNW_004936544:1,166,508...1,305,457
|
|
G |
Cnnm4 |
cyclin and CBS domain divalent metal cation transport mediator 4 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
|
|
NCBI chrNW_004936744:715,523...754,148
Ensembl chrNW_004936744:714,721...771,835
|
|
G |
Col11a2 |
collagen type XI alpha 2 chain |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936476:25,663,563...25,692,315
Ensembl chrNW_004936476:25,663,755...25,691,344
|
|
G |
Col18a1 |
collagen type XVIII alpha 1 chain |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:12415512 PMID:19160445 PMID:19390655 PMID:20799329 PMID:21862674 PMID:23667181 PMID:25456301 PMID:25741868 PMID:28041643 PMID:28492532 PMID:29977801 PMID:32581362 PMID:34828430 More...
|
|
NCBI chrNW_004936778:847,473...943,038
|
|
G |
Col2a1 |
collagen type II alpha 1 chain |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:10706362 PMID:11007540 PMID:15895462 PMID:16199547 PMID:16752401 PMID:20179744 PMID:20513134 PMID:22496037 PMID:22522174 PMID:25741868 PMID:26747767 PMID:27234559 PMID:27390512 PMID:27408751 PMID:28492532 PMID:29453956 PMID:30181686 PMID:31736238 More...
|
|
NCBI chrNW_004936512:5,861,933...5,894,898
Ensembl chrNW_004936512:5,861,933...5,892,853
|
|
G |
Crb1 |
crumbs cell polarity complex component 1 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:1427914 PMID:9536098 PMID:10508521 PMID:11231775 PMID:11389483 PMID:12700176 PMID:12843338 PMID:15024725 PMID:15459956 PMID:16123401 PMID:16199547 PMID:16543197 PMID:17128490 PMID:17297678 PMID:17576681 PMID:17724218 PMID:17964524 PMID:18055816 PMID:18055820 PMID:18682808 PMID:19140180 PMID:19401883 PMID:20301475 PMID:20591486 PMID:20683928 PMID:20956273 PMID:21484995 PMID:21602930 PMID:21757580 PMID:22065545 PMID:22968130 PMID:23105016 PMID:23362850 PMID:23379534 PMID:23449718 PMID:23462753 PMID:23591405 PMID:23661368 PMID:23847139 PMID:24033266 PMID:24265693 PMID:24512366 PMID:24535598 PMID:24715753 PMID:24811962 PMID:24938718 PMID:25133751 PMID:25323024 PMID:25356976 PMID:25377065 PMID:25412400 PMID:25474345 PMID:25741868 PMID:26047050 PMID:26147992 PMID:26312378 PMID:26667666 PMID:26914788 PMID:26957898 PMID:27096895 PMID:27113771 PMID:27157150 PMID:27208204 PMID:27258436 PMID:27353947 PMID:27380427 PMID:27628848 PMID:27806333 PMID:27884173 PMID:28005958 PMID:28041643 PMID:28129017 PMID:28181551 PMID:28341475 PMID:28492532 PMID:28512305 PMID:28559085 PMID:28714225 PMID:28800606 PMID:28819299 PMID:28912962 PMID:29068479 PMID:29178642 PMID:29186038 PMID:29200130 PMID:29391521 PMID:29641573 PMID:30029497 PMID:30543658 PMID:30576320 PMID:30718709 PMID:30902645 PMID:31456290 PMID:31736247 PMID:31896775 PMID:31964843 PMID:32581362 PMID:32856788 PMID:32865313 PMID:33342761 PMID:33546218 PMID:33576794 PMID:33579689 PMID:33633436 PMID:33946315 PMID:34758253 PMID:34884448 PMID:34906470 PMID:35318874 PMID:36099972 PMID:36460718 PMID:36909829 More...
|
|
NCBI chrNW_004936567:6,347,661...6,559,731
Ensembl chrNW_004936567:6,366,489...6,559,766
|
|
G |
Ctnna1 |
catenin alpha 1 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:25741868 PMID:28041643 PMID:28492532 PMID:30515673 PMID:32051609 PMID:33137351 PMID:34425242 More...
|
|
NCBI chrNW_004936531:7,865,907...8,036,020
Ensembl chrNW_004936531:7,865,820...8,037,935
|
|
G |
CUNH10orf105 |
chromosome unknown C10orf105 homolog |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:24033266 PMID:28492532 |
|
NCBI chrNW_004936521:7,095,044...7,095,497
Ensembl chrNW_004936521:7,095,068...7,095,469
|
|
G |
Cwc27 |
CWC27 spliceosome associated cyclophilin |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:28285769 PMID:28492532 |
|
NCBI chrNW_004936480:4,090,005...4,305,770
Ensembl chrNW_004936480:4,090,005...4,305,632
|
|
G |
Cygb |
cytoglobin |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:16199547 PMID:16938425 PMID:20507925 PMID:23661369 PMID:23805042 PMID:25741868 PMID:26806561 PMID:28181551 PMID:28492532 PMID:29785639 More...
|
|
NCBI chrNW_004936594:1,602,436...1,613,783
Ensembl chrNW_004936594:1,604,710...1,613,783
|
|
G |
Dhdds |
dehydrodolichyl diphosphate synthase subunit |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:25741868 PMID:28492532 PMID:29276052 PMID:31456290 |
|
NCBI chrNW_004936474:10,914,018...10,949,138
Ensembl chrNW_004936474:10,913,903...10,950,095
|
|
G |
Dhx38 |
DEAH-box helicase 38 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936475:21,811,693...21,830,560
Ensembl chrNW_004936475:21,811,463...21,830,577
|
|
G |
Dram2 |
DNA damage regulated autophagy modulator 2 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:16199547 PMID:25983245 PMID:28492532 |
|
NCBI chrNW_004936704:2,488,370...2,513,042
Ensembl chrNW_004936704:2,490,902...2,505,547
|
|
G |
Dthd1 |
death domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936482:4,603,473...4,661,598
Ensembl chrNW_004936482:4,603,473...4,661,118
|
|
G |
Efemp1 |
EGF containing fibulin extracellular matrix protein 1 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:10369267 PMID:11384588 PMID:11389162 PMID:12242346 PMID:17666404 PMID:22031286 PMID:25077532 PMID:25741868 PMID:26162006 PMID:28492532 PMID:30541486 PMID:33019987 PMID:33542268 PMID:33546218 PMID:33689237 More...
|
|
NCBI chrNW_004936491:2,159,654...2,214,480
Ensembl chrNW_004936491:2,159,096...2,214,677
|
|
G |
Elovl4 |
ELOVL fatty acid elongase 4 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:11138005 PMID:15028284 PMID:23509295 PMID:24833735 PMID:28492532 |
|
NCBI chrNW_004936510:10,246,901...10,276,049
Ensembl chrNW_004936510:10,246,356...10,276,753
|
|
G |
Emc1 |
ER membrane protein complex subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936474:5,512,100...5,539,198
Ensembl chrNW_004936474:5,511,661...5,539,237
|
|
G |
Fam161a |
FAM161 centrosomal protein A |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:10507729 PMID:20705278 PMID:20705279 PMID:23591405 PMID:24651477 PMID:25097241 PMID:25525159 PMID:25741868 PMID:25999674 PMID:26113502 PMID:26355662 PMID:26574802 PMID:27208204 PMID:28492532 PMID:28945494 PMID:30718709 PMID:34906470 More...
|
|
NCBI chrNW_004936491:7,202,877...7,221,493
Ensembl chrNW_004936491:7,212,194...7,221,618
|
|
G |
Fbln5 |
fibulin 5 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
|
|
NCBI chrNW_004936733:136,374...200,106
Ensembl chrNW_004936733:137,207...209,473
|
|
G |
Flvcr1 |
FLVCR choline and heme transporter 1 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:9536098 PMID:17576681 PMID:23591405 PMID:25741868 PMID:26467025 PMID:27353947 PMID:28492532 PMID:28766925 PMID:29192808 PMID:30356807 PMID:30656474 PMID:31884612 PMID:31963381 PMID:32037395 PMID:32531858 PMID:32984570 PMID:36909829 More...
|
|
NCBI chrNW_004936557:693,445...727,166
Ensembl chrNW_004936557:692,489...726,965
|
|
G |
Frmd7 |
FERM domain containing 7 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
|
|
NCBI chrNW_004936691:2,664,968...2,756,300
Ensembl chrNW_004936691:2,701,546...2,755,980
|
|
G |
Fscn2 |
fascin actin-bundling protein 2, retinal |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:11527955 PMID:14609921 PMID:15994872 PMID:16280978 PMID:16799052 PMID:17251446 PMID:18450588 PMID:24618324 PMID:25741868 PMID:28492532 PMID:28512305 More...
|
|
NCBI chrNW_004936594:5,184,133...5,195,340
Ensembl chrNW_004936594:5,184,628...5,191,985
|
|
G |
Fth1 |
ferritin heavy chain 1 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:2133066 PMID:10788642 PMID:18985398 PMID:20927214 PMID:21273940 PMID:21330666 PMID:21809908 PMID:21825197 PMID:24560797 PMID:25489231 PMID:25741868 PMID:26201355 PMID:26720466 PMID:28492532 PMID:28687848 PMID:29555955 PMID:29668979 PMID:30498755 PMID:30593719 PMID:33546218 More...
|
|
NCBI chrNW_004936581:1,118,905...1,120,592
|
|
G |
Fzd4 |
frizzled class receptor 4 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
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 chrNW_004936498:14,657,641...14,666,853
Ensembl chrNW_004936498:14,662,659...14,666,883
|
|
G |
Gatad1 |
GATA zinc finger domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:9398847 PMID:16086329 PMID:16141001 PMID:21031596 PMID:25741868 PMID:26387595 PMID:28492532 PMID:31831025 More...
|
|
NCBI chrNW_004936803:1,348,238...1,361,566
|
|
G |
Gigyf2 |
GRB10 interacting GYF protein 2 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936525:4,301,003...4,432,125
Ensembl chrNW_004936525:4,304,629...4,403,089
|
|
G |
Gnat1 |
G protein subunit alpha transducin 1 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
|
|
NCBI chrNW_004936529:1,735,258...1,740,297
Ensembl chrNW_004936529:1,735,440...1,742,567
|
|
G |
Gnat2 |
G protein subunit alpha transducin 2 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
|
|
NCBI chrNW_004936704:1,079,255...1,093,732
Ensembl chrNW_004936704:1,084,587...1,093,691
|
|
G |
Gphn |
gephyrin |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:9536098 PMID:15258582 PMID:15322982 PMID:16199547 PMID:16269441 PMID:17389517 PMID:17512964 PMID:17576681 PMID:17964524 PMID:18779497 PMID:19011012 PMID:19140180 PMID:20301475 PMID:20683928 PMID:20736127 PMID:21151602 PMID:22065924 PMID:23591405 PMID:23661369 PMID:23847139 PMID:23900199 PMID:24265693 PMID:24474277 PMID:24625443 PMID:24752437 PMID:25133751 PMID:25412400 PMID:25494902 PMID:25741868 PMID:25910913 PMID:26047050 PMID:26103963 PMID:26261414 PMID:26306921 PMID:26497376 PMID:26667666 PMID:26848971 PMID:26992781 PMID:27032803 PMID:27208204 PMID:27809489 PMID:28041643 PMID:28492532 PMID:28559085 PMID:29178642 PMID:29186038 PMID:30134391 PMID:30372751 PMID:30543658 PMID:30718709 PMID:30902645 PMID:30979730 PMID:31456290 PMID:32014858 PMID:32141364 PMID:32322264 PMID:32790509 PMID:33090715 PMID:33576794 PMID:34001834 PMID:34448047 PMID:35994252 PMID:36284670 PMID:36690427 PMID:36909829 More...
|
|
NCBI chrNW_004936495:9,970,683...10,565,467
Ensembl chrNW_004936495:9,972,007...10,564,591
|
|
G |
Gpr179 |
G protein-coupled receptor 179 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:22325361 PMID:22325362 PMID:24033266 PMID:25741868 PMID:28041643 PMID:28492532 More...
|
|
NCBI chrNW_004936490:13,801,514...13,818,666
Ensembl chrNW_004936490:13,803,303...13,818,533
|
|
G |
Grm6 |
glutamate metabotropic receptor 6 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:11874764 PMID:15781871 PMID:16622103 PMID:19862333 PMID:22008250 PMID:22735794 PMID:25741868 PMID:28492532 PMID:30718709 More...
|
|
NCBI chrNW_004936739:1,726,382...1,742,937
Ensembl chrNW_004936739:1,727,808...1,741,400
|
|
G |
Guca1a |
guanylate cyclase activator 1A |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:9425234 PMID:9651312 PMID:9702199 PMID:15735604 PMID:15790869 PMID:15953638 PMID:23472098 PMID:24352742 PMID:24875811 PMID:25741868 PMID:28041643 PMID:28492532 PMID:29555955 More...
|
|
NCBI chrNW_004936476:17,690,484...17,701,288
Ensembl chrNW_004936476:17,691,045...17,701,859
|
|
G |
Guca1b |
guanylate cyclase activator 1B |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:15452722 PMID:24352742 PMID:25741868 PMID:26161267 PMID:28492532 PMID:33812995 More...
|
|
NCBI chrNW_004936476:17,679,505...17,688,970
Ensembl chrNW_004936476:17,679,500...17,691,037
|
|
G |
Gucy2d |
guanylate cyclase 2D, retinal |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:8554074 PMID:9618177 PMID:10676808 PMID:10766140 PMID:10951519 PMID:11035546 PMID:11115851 PMID:11328726 PMID:11565546 PMID:12552567 PMID:15123990 PMID:15175914 PMID:16505055 PMID:17724218 PMID:17964524 PMID:18487367 PMID:20050595 PMID:21602930 PMID:23035049 PMID:24875811 PMID:25477517 PMID:25741868 PMID:26047050 PMID:26253563 PMID:26298565 PMID:26626312 PMID:28041643 PMID:28492532 PMID:29061346 PMID:29555955 PMID:29559409 PMID:30319355 PMID:30718709 PMID:33546218 PMID:34008892 PMID:34906470 PMID:36909829 More...
|
|
NCBI chrNW_004936595:1,235,747...1,250,294
Ensembl chrNW_004936595:1,235,711...1,250,354
|
|
G |
Hars1 |
histidyl-tRNA synthetase 1 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936531:9,610,335...9,625,203
Ensembl chrNW_004936531:9,610,306...9,625,551
|
|
G |
Hgsnat |
heparan-alpha-glucosaminide N-acetyltransferase |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17033958 PMID:17397050 PMID:17576681 PMID:18024218 PMID:19479962 PMID:19823584 PMID:20583299 PMID:20825431 PMID:23301227 PMID:24767253 PMID:25491247 PMID:25525159 PMID:25741868 PMID:25859010 PMID:26350204 PMID:27243974 PMID:27608171 PMID:28041643 PMID:28101780 PMID:28492532 PMID:28981474 PMID:31228227 PMID:31456290 PMID:31536183 PMID:32347150 PMID:32581362 PMID:32770643 PMID:33576794 PMID:33578874 PMID:33851411 PMID:34326763 PMID:34580245 PMID:34795310 PMID:34906470 PMID:35848209 More...
|
|
NCBI chrNW_004936570:257,636...297,797
Ensembl chrNW_004936570:258,820...297,762
|
|
G |
Hk1 |
hexokinase 1 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:25190649 PMID:25316723 PMID:25741868 PMID:26427411 PMID:28492532 PMID:28765615 More...
|
|
NCBI chrNW_004936521:9,067,062...9,139,112
Ensembl chrNW_004936521:9,066,999...9,159,793
|
|
G |
Idh3b |
isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936485:16,033,287...16,038,097
Ensembl chrNW_004936485:16,033,128...16,042,821
|
|
G |
Ift140 |
intraflagellar transport 140 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22282595 PMID:22503633 PMID:23418020 PMID:24009529 PMID:25741868 PMID:26216056 PMID:26766544 PMID:26968735 PMID:28492532 PMID:29688594 PMID:30479745 PMID:30902645 PMID:31213501 PMID:31456290 PMID:31736247 PMID:32037395 PMID:32531858 PMID:32901917 PMID:33452237 PMID:33946315 PMID:34217267 PMID:34890546 PMID:36460718 More...
|
|
NCBI chrNW_004936694:2,344,448...2,419,396
Ensembl chrNW_004936694:2,344,283...2,423,520
|
|
G |
Ift172 |
intraflagellar transport 172 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:24140113 PMID:25741868 PMID:26893459 PMID:28492532 PMID:28559085 PMID:32451492 More...
|
|
NCBI chrNW_004936493:5,108,437...5,145,160
Ensembl chrNW_004936493:5,108,437...5,145,160
|
|
G |
Impdh1 |
inosine monophosphate dehydrogenase 1 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:9536098 PMID:11875049 PMID:11875050 PMID:15851576 PMID:15882147 PMID:16384941 PMID:16671097 PMID:17576681 PMID:17851563 PMID:18310263 PMID:19480389 PMID:20045992 PMID:20238057 PMID:21791244 PMID:25741868 PMID:26558346 PMID:28492532 PMID:28945494 PMID:33090715 More...
|
|
NCBI chrNW_004936479:15,523,342...15,540,229
Ensembl chrNW_004936479:15,523,037...15,540,173
|
|
G |
Impg1 |
interphotoreceptor matrix proteoglycan 1 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:9536098 PMID:17576681 PMID:23993198 PMID:25741868 PMID:28492532 PMID:28644393 PMID:30215852 PMID:30688845 PMID:30902645 PMID:32817297 More...
|
|
NCBI chrNW_004936788:1,258,547...1,401,910
Ensembl chrNW_004936788:1,268,614...1,401,998
|
|
G |
Impg2 |
interphotoreceptor matrix proteoglycan 2 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:20673862 PMID:24876279 PMID:24938718 PMID:25472526 PMID:25741868 PMID:26667666 PMID:27208204 PMID:28041643 PMID:28492532 PMID:28559085 PMID:28644393 PMID:28771251 PMID:30718709 PMID:31264916 More...
|
|
NCBI chrNW_004936630:1,982,860...2,069,472
Ensembl chrNW_004936630:1,982,783...2,071,953
|
|
G |
Inpp5e |
inositol polyphosphate-5-phosphatase E |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:15786477 PMID:19668216 PMID:23034536 PMID:23386033 PMID:25741868 PMID:25818971 PMID:26092869 PMID:28125082 PMID:28492532 PMID:29186038 PMID:29230161 PMID:30202406 PMID:34188062 More...
|
|
NCBI chrNW_004936669:1,377,005...1,385,287
|
|
G |
Iqcb1 |
IQ motif containing B1 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:15723066 PMID:18076122 PMID:20881296 PMID:21220633 PMID:21245082 PMID:21866095 PMID:21901789 PMID:23188109 PMID:23446637 PMID:23559409 PMID:23661368 PMID:23847139 PMID:24066033 PMID:24625443 PMID:25741868 PMID:25851290 PMID:26673778 PMID:28041643 PMID:28492532 PMID:28832562 PMID:29053603 PMID:29068479 PMID:33535056 More...
|
|
NCBI chrNW_004936536:8,164,120...8,213,690
Ensembl chrNW_004936536:8,163,554...8,213,708
|
|
G |
Itga4 |
integrin subunit alpha 4 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
|
|
NCBI chrNW_004936509:10,215,283...10,293,653
Ensembl chrNW_004936509:10,215,283...10,292,252
|
|
G |
Jag1 |
jagged canonical Notch ligand 1 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:11180599 PMID:28492532 |
|
NCBI chrNW_004936485:8,857,688...8,894,270
Ensembl chrNW_004936485:8,857,669...8,895,315
|
|
G |
Kcnj13 |
potassium inwardly rectifying channel subfamily J member 13 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936525:4,361,755...4,374,130
Ensembl chrNW_004936525:4,362,376...4,374,414
|
|
G |
Kcnv2 |
potassium voltage-gated channel modifier subfamily V member 2 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:16909397 PMID:17896311 PMID:18235024 PMID:18400204 PMID:21558291 PMID:21882291 PMID:21911584 PMID:23077521 PMID:23115240 PMID:23885164 PMID:25741868 PMID:28041643 PMID:28492532 PMID:33309813 PMID:33546218 More...
|
|
NCBI chrNW_004936503:2,320,570...2,332,833
Ensembl chrNW_004936503:2,319,617...2,332,971
|
|
G |
Kiaa0586 |
KIAA0586 ortholog |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:20301500 PMID:24033266 PMID:25741868 PMID:26026149 PMID:26096313 PMID:26166481 PMID:26386044 PMID:26386247 PMID:26437029 PMID:28125082 PMID:28492532 PMID:28497568 PMID:29068549 PMID:30120217 PMID:32381069 PMID:32581362 More...
|
|
NCBI chrNW_004936495:2,799,738...2,933,157
Ensembl chrNW_004936495:2,800,384...2,931,856
|
|
G |
Kiaa1549 |
KIAA1549 ortholog |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936592:3,132,166...3,215,835
Ensembl chrNW_004936592:3,132,703...3,275,199
|
|
G |
Kif11 |
kinesin family member 11 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:28492532 PMID:30452590 |
|
NCBI chrNW_004936601:2,163,316...2,213,674
Ensembl chrNW_004936601:2,163,795...2,213,588
|
|
G |
Kiz |
kizuna centrosomal protein |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:24680887 PMID:25741868 PMID:28492532 PMID:28837078 PMID:29057815 PMID:31370859 PMID:31556760 PMID:32052671 More...
|
|
NCBI chrNW_004936620:4,188,350...4,310,708
Ensembl chrNW_004936620:4,185,898...4,310,738
|
|
G |
Klhl7 |
kelch like family member 7 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:19520207 PMID:21828050 PMID:25741868 PMID:28041643 PMID:28492532 PMID:30300710 PMID:31856884 PMID:32037395 More...
|
|
NCBI chrNW_004936478:279,580...337,655
Ensembl chrNW_004936478:279,067...337,752
|
|
G |
Krtcap3 |
keratinocyte associated protein 3 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936493:5,145,237...5,146,904
Ensembl chrNW_004936493:5,142,970...5,146,778
|
|
G |
Lca5 |
lebercilin LCA5 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:8571951 PMID:16199547 PMID:17546029 PMID:19503738 PMID:20301475 PMID:21606596 PMID:23946133 PMID:25356970 PMID:25412400 PMID:25741868 PMID:27624628 PMID:28041643 PMID:28492532 More...
|
|
NCBI chrNW_004936510:10,652,378...10,702,761
Ensembl chrNW_004936510:10,671,297...10,703,618
|
|
G |
LOC101957489 |
zinc finger protein 454 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:11874764 PMID:15781871 PMID:16622103 PMID:19862333 PMID:22008250 PMID:22735794 PMID:25741868 PMID:28492532 PMID:30718709 More...
|
|
NCBI chrNW_004936739:1,752,999...1,772,705
Ensembl chrNW_004936739:1,779,507...1,800,190 Ensembl chrNW_004936739:1,779,507...1,800,190
|
|
G |
LOC101960714 |
cone-rod homeobox protein |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:9427255 PMID:9792858 PMID:9931337 PMID:10916183 PMID:11139241 PMID:11748859 PMID:11971869 PMID:15531334 PMID:16123401 PMID:17964524 PMID:18682808 PMID:21602930 PMID:22968130 PMID:23049240 PMID:24154662 PMID:24265693 PMID:24516401 PMID:25270190 PMID:25326637 PMID:25741868 PMID:26161267 PMID:27624628 PMID:28041643 PMID:28492532 PMID:29068479 PMID:29555955 PMID:29641573 PMID:29785639 PMID:30543658 PMID:31215831 PMID:31626798 PMID:31630094 PMID:32531858 PMID:32533067 PMID:32581362 PMID:32689858 PMID:32927963 PMID:33090715 PMID:33546218 PMID:36909829 More...
|
|
NCBI chrNW_004936664:1,408,618...1,419,096
Ensembl chrNW_004936664:1,409,229...1,419,234
|
|
G |
LOC101963575 |
eyes shut homolog |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:2033377 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18836446 PMID:18976725 PMID:18976726 PMID:20237254 PMID:20333770 PMID:20333771 PMID:20375346 PMID:20537394 PMID:21069908 PMID:21217109 PMID:21519034 PMID:22164218 PMID:22302105 PMID:22363543 PMID:22581970 PMID:23105016 PMID:23421333 PMID:23591405 PMID:23757202 PMID:24033266 PMID:24265693 PMID:24474277 PMID:24618324 PMID:24652164 PMID:24670872 PMID:24938718 PMID:25096270 PMID:25097241 PMID:25133751 PMID:25268133 PMID:25324289 PMID:25356976 PMID:25366773 PMID:25412400 PMID:25491159 PMID:25692139 PMID:25741868 PMID:25753737 PMID:26103963 PMID:26155838 PMID:26161267 PMID:26261414 PMID:26355662 PMID:26667666 PMID:26787102 PMID:26806561 PMID:26872967 PMID:27208204 PMID:27353947 PMID:27375351 PMID:27658286 PMID:28041643 PMID:28418496 PMID:28492532 PMID:28559085 PMID:28704921 PMID:28763560 PMID:28838317 PMID:29068140 PMID:29159838 PMID:29550188 PMID:29625443 PMID:29641573 PMID:29785639 PMID:30153090 PMID:30337596 PMID:30487145 PMID:30543658 PMID:30718709 PMID:30804660 PMID:31054281 PMID:31074760 PMID:31087526 PMID:31213501 PMID:31456290 PMID:31725169 PMID:31814702 PMID:31872526 PMID:31960602 PMID:31964843 PMID:32036094 PMID:32037395 PMID:32218477 PMID:32483926 PMID:32531858 PMID:32581362 PMID:32675063 PMID:32728228 PMID:32795431 PMID:33090715 PMID:33247286 PMID:33514863 PMID:33576794 PMID:33691693 PMID:33749171 PMID:33833316 PMID:33946315 PMID:34178978 PMID:34662339 PMID:34689181 PMID:34721897 PMID:34906470 PMID:35672425 PMID:36284460 PMID:36819107 PMID:36909829 More...
|
|
NCBI chrNW_004936476:158,391...1,289,639
|
|
G |
LOC101967774 |
cytochrome P450 4V2 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:15042513 PMID:15937078 PMID:16088246 PMID:16179904 PMID:16199547 PMID:21565171 PMID:21850171 PMID:22497028 PMID:22605929 PMID:22693542 PMID:22772592 PMID:23221965 PMID:23661369 PMID:24033266 PMID:24739949 PMID:25118264 PMID:25356976 PMID:25593508 PMID:25611614 PMID:25741868 PMID:26971461 PMID:27658286 PMID:28051075 PMID:28492532 PMID:28512305 PMID:28848678 PMID:29691984 PMID:29785639 PMID:30429639 PMID:33546218 More...
|
|
NCBI chrNW_004936554:3,272,139...3,293,288
Ensembl chrNW_004936554:3,272,073...3,293,564
|
|
G |
LOC101969963 |
cadherin-23 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:11138009 PMID:12075507 PMID:16199547 PMID:18273900 PMID:18429043 PMID:18484607 PMID:20613545 PMID:21940737 PMID:24033266 PMID:25211151 PMID:25468891 PMID:25472526 PMID:25741868 PMID:26399936 PMID:26467025 PMID:26969326 PMID:27208204 PMID:28492532 PMID:30311386 PMID:30718709 PMID:31546658 PMID:32141364 PMID:32991204 PMID:35020051 PMID:35186827 More...
|
|
NCBI chrNW_004936521:7,078,874...7,285,361
Ensembl chrNW_004936521:7,010,360...7,340,842
|
|
G |
Lrat |
lecithin retinol acyltransferase |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936576:1,491,480...1,498,568
Ensembl chrNW_004936576:1,492,297...1,501,917
|
|
G |
Lrp2 |
LDL receptor related protein 2 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:28041643 PMID:28492532 |
|
NCBI chrNW_004936469:10,245,001...10,438,933
Ensembl chrNW_004936469:10,244,881...10,438,935
|
|
G |
Lrp5 |
LDL receptor related protein 5 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:11719191 PMID:16252235 PMID:25711638 PMID:25741868 PMID:27208204 PMID:28492532 PMID:30452590 PMID:30894705 PMID:34526760 More...
|
|
NCBI chrNW_004936599:1,746,309...1,814,471
Ensembl chrNW_004936599:1,746,406...1,814,321
|
|
G |
Mak |
male germ cell associated kinase |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:16199547 PMID:21148103 PMID:21825139 PMID:24938718 PMID:25324289 PMID:25741868 PMID:28492532 PMID:28559085 PMID:29103961 PMID:29781741 PMID:32531858 More...
|
|
NCBI chrNW_004936534:2,170,853...2,239,647
Ensembl chrNW_004936534:2,170,794...2,224,065
|
|
G |
Mertk |
MER proto-oncogene, tyrosine kinase |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:9536098 PMID:11062461 PMID:11727200 PMID:15111602 PMID:16199547 PMID:17301963 PMID:17576681 PMID:24265693 PMID:24625443 PMID:24938718 PMID:25097241 PMID:25324289 PMID:25741868 PMID:26355662 PMID:26700204 PMID:27208204 PMID:28041643 PMID:28462455 PMID:28492532 PMID:28559085 PMID:29068140 PMID:29074561 PMID:29659094 PMID:30718709 PMID:31054281 PMID:33353011 PMID:33921607 PMID:34906470 PMID:36909829 More...
|
|
NCBI chrNW_004936783:607,425...704,879
Ensembl chrNW_004936783:607,382...704,889
|
|
G |
Mfrp |
membrane frizzled-related protein |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:12140190 PMID:12944416 PMID:15976030 PMID:16199547 PMID:20361016 PMID:22142163 PMID:23289492 PMID:24531000 PMID:25097241 PMID:25326637 PMID:25741868 PMID:28041643 PMID:28224992 PMID:28492532 PMID:28939808 PMID:29847639 PMID:31992737 PMID:32036094 More...
|
|
NCBI chrNW_004936542:4,272,250...4,277,231
Ensembl chrNW_004936542:4,272,264...4,277,252
|
|
G |
Mfsd8 |
major facilitator superfamily domain containing 8 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:19177532 PMID:25227500 PMID:25333361 PMID:25741868 PMID:28041643 PMID:28492532 PMID:28586915 PMID:31006324 PMID:32037395 PMID:32581362 More...
|
|
NCBI chrNW_004936642:2,745,889...2,833,286
Ensembl chrNW_004936642:2,801,908...2,832,830
|
|
G |
Mkks |
MKKS centrosomal shuttling protein |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:10802661 PMID:10973251 PMID:11567139 PMID:18094050 PMID:20177705 PMID:20226561 PMID:20498079 PMID:21209035 PMID:25741868 PMID:25982971 PMID:28492532 More...
|
|
NCBI chrNW_004936485:9,089,118...9,114,396
Ensembl chrNW_004936485:9,088,963...9,115,175
|
|
G |
Mmachc |
metabolism of cobalamin associated C |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:16311595 PMID:19370762 PMID:24210589 PMID:25398587 PMID:25741868 PMID:28492532 PMID:30197982 PMID:32071835 PMID:32481360 PMID:33473346 More...
|
|
NCBI chrNW_004936474:26,636,277...26,641,486
Ensembl chrNW_004936474:26,636,245...26,641,486
|
|
G |
Mvk |
mevalonate kinase |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:15457465 PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936769:1,274,595...1,295,186
Ensembl chrNW_004936769:1,274,540...1,298,178
|
|
G |
Myo7a |
myosin VIIA |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:7568224 PMID:7870171 PMID:8900236 PMID:9002678 PMID:9259201 PMID:9382091 PMID:9536098 PMID:10094549 PMID:10425080 PMID:10447383 PMID:10930322 PMID:12112664 PMID:15043528 PMID:15660226 PMID:15823922 PMID:16199547 PMID:16400615 PMID:16470552 PMID:16652077 PMID:16679490 PMID:16963483 PMID:17361009 PMID:17576681 PMID:18181211 PMID:18463160 PMID:18484607 PMID:18700726 PMID:19074810 PMID:19299023 PMID:19683999 PMID:20052763 PMID:20497194 PMID:20513143 PMID:21311020 PMID:21436283 PMID:21569298 PMID:21873662 PMID:22135276 PMID:23148716 PMID:23208854 PMID:23451239 PMID:23591405 PMID:23770805 PMID:24033266 PMID:24199935 PMID:24831256 PMID:25080338 PMID:25333064 PMID:25404053 PMID:25468891 PMID:25472526 PMID:25525159 PMID:25575603 PMID:25741868 PMID:25788563 PMID:26338283 PMID:26486028 PMID:26791358 PMID:26872967 PMID:26969326 PMID:27068579 PMID:27160483 PMID:27208204 PMID:27344577 PMID:27460420 PMID:27583663 PMID:27743452 PMID:27957503 PMID:28000701 PMID:28041643 PMID:28492532 PMID:28559085 PMID:28944237 PMID:29490346 PMID:30303587 PMID:30390570 PMID:30459346 PMID:31266775 PMID:31479088 PMID:31816670 PMID:31836858 PMID:32747562 PMID:33576163 PMID:34148116 More...
|
|
NCBI chrNW_004936498:5,758,572...5,824,526
Ensembl chrNW_004936498:5,751,779...5,824,378
|
|
G |
Nek2 |
NIMA related kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936557:1,683,027...1,695,410
Ensembl chrNW_004936557:1,682,984...1,695,414
|
|
G |
Neurod1 |
neuronal differentiation 1 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936509:10,421,821...10,425,927
Ensembl chrNW_004936509:10,423,126...10,424,196
|
|
G |
Nmnat1 |
nicotinamide nucleotide adenylyltransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:20301475 PMID:22842227 PMID:22842229 PMID:22842230 PMID:22842231 PMID:23040504 PMID:24033266 PMID:24625443 PMID:24830548 PMID:24940029 PMID:25741868 PMID:26018082 PMID:26103963 PMID:26316326 PMID:27032803 PMID:28041643 PMID:28492532 PMID:29184169 PMID:30004997 PMID:32150116 PMID:32533184 PMID:32581362 PMID:32865313 More...
|
|
NCBI chrNW_004936623:3,862,234...3,891,849
Ensembl chrNW_004936623:3,870,031...3,891,849
|
|
G |
Nphp4 |
nephrocystin 4 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:15776426 PMID:21068128 PMID:21546380 PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936623:802,152...904,198
|
|
G |
Nr2e3 |
nuclear receptor subfamily 2 group E member 3 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:10655056 PMID:11071390 PMID:11773633 PMID:12963616 PMID:15453866 PMID:15459973 PMID:15689355 PMID:16024868 PMID:16199547 PMID:16225923 PMID:17438525 PMID:17564971 PMID:17982421 PMID:18294254 PMID:18436841 PMID:18835469 PMID:19006237 PMID:19139342 PMID:19273793 PMID:19718767 PMID:19823680 PMID:19898638 PMID:19933183 PMID:21217109 PMID:21364904 PMID:22711506 PMID:23374571 PMID:23591405 PMID:23989059 PMID:24033266 PMID:24069298 PMID:24339724 PMID:24474277 PMID:24938718 PMID:25079116 PMID:25097241 PMID:25326637 PMID:25356976 PMID:25703721 PMID:25741868 PMID:25999674 PMID:26229699 PMID:26355662 PMID:26667666 PMID:26894784 PMID:26910043 PMID:27013732 PMID:27032803 PMID:27522502 PMID:27573156 PMID:27874104 PMID:28041643 PMID:28224992 PMID:28300834 PMID:28418496 PMID:28492532 PMID:28541266 PMID:28559085 PMID:28771251 PMID:28944237 PMID:29193891 PMID:29343940 PMID:29431110 PMID:30054919 PMID:30324420 PMID:30543658 PMID:30718709 PMID:31213501 PMID:32037395 PMID:32581362 PMID:32679203 PMID:32901917 PMID:33138239 PMID:34906470 PMID:36909829 More...
|
|
NCBI chrNW_004936471:31,229,322...31,236,093
Ensembl chrNW_004936471:31,229,564...31,235,654
|
|
G |
Nrl |
neural retina leucine zipper |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:11385710 PMID:11879142 PMID:15591106 PMID:15994872 PMID:17335001 PMID:21981118 PMID:25741868 PMID:28492532 PMID:29385733 PMID:33691693 PMID:36819107 More...
|
|
NCBI chrNW_004936722:448,006...454,064
Ensembl chrNW_004936722:447,967...454,553
|
|
G |
Nyx |
nyctalopin |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:11062471 PMID:19578023 PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936502:7,890,582...7,909,157
Ensembl chrNW_004936502:7,890,535...7,910,986
|
|
G |
Oat |
ornithine aminotransferase |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:1609808 PMID:1737786 PMID:3339136 PMID:16199547 PMID:22674428 PMID:23076989 PMID:25741868 PMID:28492532 More...
|
|
NCBI chrNW_004936486:12,723,363...12,743,367
Ensembl chrNW_004936486:12,723,305...12,743,422
|
|
G |
Ofd1 |
OFD1 centriole and centriolar satellite protein |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:16783569 PMID:18414213 PMID:18546297 PMID:25741868 PMID:26092869 PMID:27081566 PMID:28492532 More...
|
|
NCBI chrNW_004936470:3,292,961...3,331,915
Ensembl chrNW_004936470:3,292,249...3,331,800
|
|
G |
Opa1 |
OPA1 mitochondrial dynamin like GTPase |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:9490303 PMID:9917792 PMID:11017079 PMID:11440988 PMID:11440989 PMID:11810270 PMID:12036970 PMID:14961560 PMID:15505825 PMID:16513463 PMID:17251483 PMID:18222991 PMID:20157015 PMID:20417570 PMID:20659957 PMID:20952381 PMID:21636302 PMID:21646330 PMID:22042570 PMID:22857269 PMID:23250881 PMID:23401657 PMID:24907432 PMID:25012220 PMID:25205859 PMID:25641387 PMID:25741868 PMID:26385429 PMID:26467025 PMID:28492532 PMID:28812649 PMID:32025183 PMID:32855858 PMID:33546218 PMID:33884488 PMID:34242285 More...
|
|
NCBI chrNW_004936711:1,027,531...1,113,796
Ensembl chrNW_004936711:1,032,935...1,106,847
|
|
G |
Otx2 |
orthodenticle homeobox 2 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:17541950 PMID:28492532 |
|
NCBI chrNW_004936495:1,433,124...1,449,409
Ensembl chrNW_004936495:1,432,598...1,442,918
|
|
G |
Pax2 |
paired box 2 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:25741868 PMID:28041643 PMID:28492532 |
|
NCBI chrNW_004936600:4,850,594...4,939,010
Ensembl chrNW_004936600:4,850,552...4,928,214
|
|
G |
Pcare |
photoreceptor cilium actin regulator |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:20398886 PMID:20811058 PMID:21412943 PMID:23105016 PMID:24339724 PMID:24938718 PMID:25741868 PMID:26496393 PMID:27353947 PMID:28041643 PMID:28492532 PMID:28763557 PMID:31213501 PMID:32483926 PMID:33546218 PMID:33576794 PMID:34906470 PMID:34964967 More...
|
|
NCBI chrNW_004936493:3,768,032...3,781,511
Ensembl chrNW_004936493:3,768,688...3,777,634
|
|
G |
Pcdh15 |
protocadherin related 15 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:11398101 PMID:11487575 PMID:14570705 PMID:22815625 PMID:23451239 PMID:25741868 PMID:26791358 PMID:27208204 PMID:27743452 PMID:28492532 PMID:30311386 PMID:30459346 More...
|
|
NCBI chrNW_004936910:233,800...602,145
Ensembl chrNW_004936910:141,917...602,089
|
|
G |
Pde6a |
phosphodiesterase 6A |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:7493036 PMID:9536098 PMID:10393062 PMID:16199547 PMID:17110911 PMID:17576681 PMID:18849587 PMID:21039428 PMID:22128245 PMID:23105016 PMID:23134348 PMID:23847139 PMID:24339724 PMID:24416769 PMID:25741868 PMID:25775262 PMID:26188004 PMID:26806561 PMID:26868535 PMID:27208204 PMID:27551530 PMID:27917291 PMID:28041643 PMID:28157543 PMID:28492532 PMID:29343940 PMID:29693493 PMID:30543658 PMID:30718709 PMID:31213501 PMID:31736247 PMID:31872526 PMID:33057649 PMID:33090715 PMID:34906470 PMID:35533076 More...
|
|
NCBI chrNW_004936504:5,018,171...5,088,333
Ensembl chrNW_004936504:5,018,064...5,092,024
|
|
G |
Pde6b |
phosphodiesterase 6B |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:3203739 PMID:7724547 PMID:8394174 PMID:8595886 PMID:9238087 PMID:9536098 PMID:9543643 PMID:12525556 PMID:16199547 PMID:17267005 PMID:17576681 PMID:18310263 PMID:22334370 PMID:23105016 PMID:24033266 PMID:24265693 PMID:24828262 PMID:24938718 PMID:25097241 PMID:25324289 PMID:25356976 PMID:25525159 PMID:25741868 PMID:25823529 PMID:25827439 PMID:26155838 PMID:26355662 PMID:26766544 PMID:27208204 PMID:27353947 PMID:27588261 PMID:27898983 PMID:28041643 PMID:28130426 PMID:28224992 PMID:28492532 PMID:28559085 PMID:28912962 PMID:28981474 PMID:29472945 PMID:29641573 PMID:29785639 PMID:30029497 PMID:30054919 PMID:30646425 PMID:30718709 PMID:30924848 PMID:30998820 PMID:31054281 PMID:31630094 PMID:33090715 PMID:33177553 PMID:33576794 PMID:33691693 PMID:33946315 PMID:34906470 PMID:35272565 PMID:35836572 PMID:36460718 PMID:36819107 More...
|
|
NCBI chrNW_004936477:22,418,037...22,472,251
Ensembl chrNW_004936477:22,417,453...22,472,185
|
|
G |
Pde6c |
phosphodiesterase 6C |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:16199547 PMID:19887631 PMID:23776498 PMID:25741868 PMID:26103963 PMID:28492532 PMID:30080950 More...
|
|
NCBI chrNW_004936601:1,343,538...1,393,605
Ensembl chrNW_004936601:1,341,658...1,393,377
|
|
G |
Pde6g |
phosphodiesterase 6G |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936594:5,263,345...5,267,240
Ensembl chrNW_004936594:5,263,333...5,267,476
|
|
G |
Pex1 |
peroxisomal biogenesis factor 1 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:1301993 PMID:2063923 PMID:9398847 PMID:9398848 PMID:10384394 PMID:10447258 PMID:10480353 PMID:11389485 PMID:12032265 PMID:12402331 PMID:15098231 PMID:15542397 PMID:16086329 PMID:16141001 PMID:17055079 PMID:19105186 PMID:20301621 PMID:20952722 PMID:21031596 PMID:21846392 PMID:21862673 PMID:22871920 PMID:23757202 PMID:24503136 PMID:25412400 PMID:25741868 PMID:26219880 PMID:26287655 PMID:26387595 PMID:26467025 PMID:26643206 PMID:27090541 PMID:27872819 PMID:27882258 PMID:28468868 PMID:28492532 PMID:30362618 PMID:31374812 PMID:31831025 More...
|
|
NCBI chrNW_004936803:1,291,867...1,340,123
Ensembl chrNW_004936803:1,291,702...1,340,178
|
|
G |
Pex6 |
peroxisomal biogenesis factor 6 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:16530715 PMID:19105186 PMID:19877282 PMID:21031596 PMID:25079577 PMID:25079599 PMID:25741868 PMID:26287655 PMID:26387595 PMID:26943801 PMID:27302843 PMID:27848944 PMID:28492532 PMID:29676688 PMID:31216405 PMID:31831025 PMID:33003980 PMID:33776059 PMID:36785559 More...
|
|
NCBI chrNW_004936476:16,948,137...16,963,601
Ensembl chrNW_004936476:16,949,028...16,964,040
|
|
G |
Phf3 |
PHD finger protein 3 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:18976725 PMID:20237254 PMID:20333770 PMID:20537394 PMID:21069908 PMID:21519034 PMID:22302105 PMID:22363543 PMID:22581970 PMID:23591405 PMID:23757202 PMID:24474277 PMID:24652164 PMID:24938718 PMID:25097241 PMID:25133751 PMID:25324289 PMID:25356976 PMID:25366773 PMID:25741868 PMID:26161267 PMID:26261414 PMID:26667666 PMID:26787102 PMID:26872967 PMID:27208204 PMID:27375351 PMID:27658286 PMID:28492532 PMID:28704921 PMID:28763560 PMID:29068140 PMID:29159838 PMID:29550188 PMID:29641573 PMID:30337596 PMID:30543658 PMID:30718709 PMID:31074760 PMID:31087526 PMID:31213501 PMID:31725169 PMID:31814702 PMID:31960602 PMID:32036094 PMID:32037395 PMID:32218477 PMID:32531858 PMID:32675063 PMID:32728228 PMID:32795431 PMID:33247286 PMID:33576794 PMID:33691693 PMID:33749171 PMID:33833316 PMID:34178978 PMID:34689181 PMID:34906470 PMID:35672425 PMID:36819107 More...
|
|
NCBI chrNW_004936476:1,295,697...1,380,608
Ensembl chrNW_004936476:1,296,423...1,368,411
|
|
G |
Pitpnm3 |
PITPNM family member 3 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936677:1,451,974...1,528,864
Ensembl chrNW_004936677:1,430,391...1,529,484
|
|
G |
Pnpla6 |
patatin like phospholipase domain containing 6 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936588:4,608,856...4,632,198
Ensembl chrNW_004936588:4,608,963...4,632,183
|
|
G |
Poc1b |
POC1 centriolar protein B |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:25018096 PMID:28492532 PMID:29220607 |
|
NCBI chrNW_004936507:6,375,009...6,457,034
Ensembl chrNW_004936507:6,376,350...6,456,932
|
|
G |
Pomgnt1 |
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:12588800 PMID:12849864 PMID:19299310 PMID:20816175 PMID:21447391 PMID:22819665 PMID:23453855 PMID:23689641 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26908613 PMID:27391550 PMID:27493216 PMID:28492532 PMID:29096039 PMID:29302074 PMID:31066047 PMID:32404165 PMID:33200426 More...
|
|
NCBI chrNW_004936474:27,229,262...27,239,034
Ensembl chrNW_004936474:27,229,113...27,239,123
|
|
G |
Prcd |
photoreceptor disc component |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:16199547 PMID:16938425 PMID:20507925 PMID:23661369 PMID:23805042 PMID:25741868 PMID:26806561 PMID:28181551 PMID:28492532 PMID:29785639 More...
|
|
NCBI chrNW_004936594:1,615,165...1,628,455
Ensembl chrNW_004936594:1,616,794...1,619,049
|
|
G |
Prdm13 |
PR/SET domain 13 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
|
|
NCBI chrNW_004936651:1,199,928...1,208,697
Ensembl chrNW_004936651:1,200,089...1,207,872
|
|
G |
Prom1 |
prominin 1 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:9634506 PMID:10205271 PMID:12657606 PMID:12659814 PMID:15665353 PMID:16199547 PMID:17605048 PMID:18654668 PMID:19718270 PMID:20393116 PMID:20554613 PMID:20859302 PMID:22025579 PMID:22183351 PMID:22581970 PMID:23105016 PMID:24154662 PMID:24265693 PMID:24547909 PMID:24763286 PMID:24938718 PMID:25356976 PMID:25472526 PMID:25474345 PMID:25741868 PMID:25999674 PMID:26103963 PMID:26153215 PMID:26161267 PMID:26261540 PMID:26702251 PMID:26872967 PMID:27208204 PMID:27874104 PMID:28041643 PMID:28095140 PMID:28492532 PMID:28559085 PMID:29343940 PMID:29555955 PMID:29847639 PMID:30029497 PMID:30576320 PMID:30578500 PMID:30588538 PMID:30718709 PMID:31054281 PMID:31129250 PMID:32483926 PMID:32531858 PMID:32581362 PMID:32820593 PMID:33546218 PMID:34906470 PMID:35947379 PMID:35951719 PMID:36819107 PMID:36909829 More...
|
|
NCBI chrNW_004936477:11,878,261...12,017,228
Ensembl chrNW_004936477:11,878,012...12,018,177
|
|
G |
Prpf3 |
pre-mRNA processing factor 3 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:11773002 PMID:15085354 PMID:17932117 PMID:20309403 PMID:20811066 PMID:25741868 PMID:27886254 PMID:28492532 PMID:28559085 More...
|
|
NCBI chrNW_004936580:604,709...632,788
Ensembl chrNW_004936580:605,138...633,104
|
|
G |
Prpf31 |
pre-mRNA processing factor 31 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:8808602 PMID:9536098 PMID:11545739 PMID:16199547 PMID:16708387 PMID:16799052 PMID:16917484 PMID:17325180 PMID:17576681 PMID:18317597 PMID:19506198 PMID:20861475 PMID:23288994 PMID:23343310 PMID:23950152 PMID:24265693 PMID:24664689 PMID:25356976 PMID:25525159 PMID:25741868 PMID:26872967 PMID:27208204 PMID:28041643 PMID:28492532 PMID:29847639 PMID:29957067 PMID:30543658 PMID:30582903 PMID:30718709 PMID:31047384 PMID:31054281 PMID:31892304 PMID:32014492 PMID:32037395 PMID:33090715 PMID:33851411 PMID:33946315 PMID:34906470 More...
|
|
NCBI chrNW_004936994:239,688...252,269
Ensembl chrNW_004936994:239,682...252,317
|
|
G |
Prpf4 |
pre-mRNA splicing tri-snRNP complex factor PRPF4 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936559:305,443...321,051
Ensembl chrNW_004936559:305,392...321,080
|
|
G |
Prpf6 |
pre-mRNA processing factor 6 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:9536098 PMID:17576681 PMID:25356976 PMID:25741868 PMID:28492532 PMID:31054281 More...
|
|
NCBI chrNW_004936514:11,175,410...11,220,928
Ensembl chrNW_004936514:11,175,526...11,220,241
|
|
G |
Prpf8 |
pre-mRNA processing factor 8 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:11468273 PMID:11910553 PMID:12714658 PMID:16799052 PMID:17061239 PMID:18695108 PMID:20232351 PMID:21378395 PMID:23950152 PMID:24938718 PMID:25097241 PMID:25741868 PMID:27208204 PMID:27391102 PMID:28041643 PMID:28076437 PMID:28492532 PMID:28515276 PMID:28559085 PMID:28761320 PMID:28798898 PMID:30029497 PMID:31725702 PMID:33157387 PMID:33576794 PMID:33598457 PMID:33781268 PMID:34321860 PMID:34906470 PMID:36909829 More...
|
|
NCBI chrNW_004936538:7,780,022...7,814,575
Ensembl chrNW_004936538:7,780,022...7,814,575
|
|
G |
Prph2 |
peripherin 2 |
no_association |
ISO |
DNA:polymorphism:exon:p.E304Q,G338D(human) ClinVar Annotator: match by term: Retinal dystrophy |
RGD ClinVar |
PMID:1427912 PMID:1684223 PMID:4142662 PMID:7493155 PMID:7519821 PMID:7754251 PMID:7825692 PMID:7862413 PMID:7880786 PMID:7904791 PMID:8015786 PMID:8020945 PMID:8058286 PMID:8111389 PMID:8202715 PMID:8302543 PMID:8449524 PMID:8485575 PMID:8485576 PMID:8540854 PMID:8644804 PMID:8675410 PMID:8747448 PMID:8943002 PMID:8994365 PMID:9010868 PMID:9052636 PMID:9279751 PMID:9331261 PMID:9338584 PMID:9443872 PMID:9536098 PMID:9587927 PMID:9673478 PMID:9690896 PMID:9831753 PMID:10193525 PMID:10532447 PMID:10627133 PMID:10800708 PMID:10862101 PMID:11139241 PMID:11139263 PMID:11297544 PMID:11427722 PMID:11485765 PMID:11704030 PMID:11801511 PMID:11853584 PMID:11934323 PMID:12042139 PMID:12045052 PMID:12566026 PMID:12925772 PMID:14510799 PMID:14557183 PMID:15370544 PMID:16019073 PMID:16024869 PMID:16113362 PMID:16199547 PMID:16340530 PMID:16799052 PMID:16885924 PMID:16916875 PMID:17249552 PMID:17296903 PMID:17504850 PMID:17576681 PMID:17653047 PMID:18050133 PMID:18161617 PMID:18310263 PMID:19038374 PMID:19243827 PMID:19262438 PMID:20213611 PMID:20640437 PMID:21071739 PMID:21269699 PMID:22003107 PMID:22334370 PMID:22466463 PMID:22863181 PMID:23105016 PMID:23591405 PMID:23847139 PMID:23950152 PMID:24463884 PMID:24608669 PMID:24629188 PMID:25001182 PMID:25082885 PMID:25097241 PMID:25268133 PMID:25324289 PMID:25390130 PMID:25412400 PMID:25447119 PMID:25472526 PMID:25474345 PMID:25675413 PMID:25698705 PMID:25741868 PMID:25803555 PMID:25999674 PMID:26061163 PMID:26103963 PMID:26161267 PMID:26355662 PMID:26496393 PMID:26667666 PMID:26720483 PMID:26796962 PMID:26842753 PMID:26957898 PMID:27208204 PMID:27365499 PMID:27813578 PMID:28041643 PMID:28076437 PMID:28224992 PMID:28492532 PMID:28559085 PMID:28761320 PMID:28838317 PMID:29155698 PMID:29186038 PMID:29276052 PMID:29343940 PMID:29453956 PMID:29555955 PMID:29630435 PMID:29641573 PMID:29844330 PMID:29847639 PMID:30215852 PMID:30217183 PMID:30718709 PMID:30726412 PMID:30731082 PMID:30822235 PMID:30924848 PMID:30926958 PMID:31213501 PMID:31429209 PMID:31456290 PMID:31574917 PMID:31618092 PMID:32037395 PMID:32531846 PMID:32581362 PMID:32660024 PMID:32717343 PMID:33546218 PMID:34906036 PMID:34906470 PMID:35260635 PMID:36909829 More...
|
RGD:8553224 |
NCBI chrNW_004936476:17,159,756...17,174,226
Ensembl chrNW_004936476:17,160,016...17,173,981
|
|
G |
Prps1 |
phosphoribosyl pyrophosphate synthetase 1 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:24961627 PMID:25741868 PMID:28492532 PMID:28967191 PMID:32781272 |
|
NCBI chrNW_004936499:7,114,838...7,136,468
Ensembl chrNW_004936499:7,115,780...7,136,449
|
|
G |
Prss23 |
serine protease 23 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
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 chrNW_004936498:14,560,730...14,563,195
Ensembl chrNW_004936498:14,560,765...14,561,913
|
|
G |
Rab28 |
RAB28, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
|
|
NCBI chrNW_004936477:14,066,063...14,140,310
|
|
G |
Rax2 |
retina and anterior neural fold homeobox 2 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:25789692 PMID:28492532 PMID:30377383 |
|
NCBI chrNW_004936588:2,133,398...2,135,329
Ensembl chrNW_004936588:2,134,211...2,135,358
|
|
G |
Rbp3 |
retinol binding protein 3 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:9614228 PMID:19074801 PMID:23105016 PMID:24963161 PMID:25741868 PMID:25766589 PMID:26872967 PMID:27829784 PMID:28492532 PMID:28512305 PMID:33629268 More...
|
|
NCBI chrNW_004936554:7,329,155...7,340,434
Ensembl chrNW_004936554:7,329,028...7,338,074
|
|
G |
Rdh12 |
retinol dehydrogenase 12 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:9536098 PMID:15258582 PMID:15322982 PMID:16199547 PMID:16269441 PMID:17389517 PMID:17512964 PMID:17576681 PMID:17964524 PMID:18779497 PMID:19011012 PMID:19140180 PMID:20301475 PMID:20683928 PMID:20736127 PMID:21151602 PMID:22065924 PMID:23591405 PMID:23661369 PMID:23847139 PMID:23900199 PMID:24265693 PMID:24474277 PMID:24625443 PMID:24752437 PMID:25133751 PMID:25412400 PMID:25494902 PMID:25741868 PMID:25910913 PMID:26047050 PMID:26103963 PMID:26261414 PMID:26306921 PMID:26497376 PMID:26667666 PMID:26848971 PMID:26992781 PMID:27032803 PMID:27208204 PMID:27809489 PMID:28041643 PMID:28492532 PMID:28559085 PMID:29178642 PMID:29186038 PMID:30134391 PMID:30372751 PMID:30543658 PMID:30718709 PMID:30902645 PMID:30979730 PMID:31456290 PMID:32014858 PMID:32141364 PMID:32322264 PMID:32790509 PMID:33090715 PMID:33576794 PMID:34001834 PMID:34448047 PMID:35994252 PMID:36284670 PMID:36690427 PMID:36909829 More...
|
|
NCBI chrNW_004936495:11,111,247...11,121,976
Ensembl chrNW_004936495:11,111,105...11,121,341
|
|
G |
Rdh5 |
retinol dehydrogenase 5 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:11675386 PMID:20829743 PMID:22815624 PMID:23462753 PMID:24603341 PMID:25741868 PMID:28418496 PMID:28492532 PMID:29847639 More...
|
|
NCBI chrNW_004936646:191,136...195,279
Ensembl chrNW_004936646:191,128...199,777
|
|
G |
Reep6 |
receptor accessory protein 6 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936588:800,492...804,769
Ensembl chrNW_004936588:799,414...809,852
|
|
G |
Rgr |
retinal G protein coupled receptor |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:10581022 PMID:25741868 PMID:27748892 PMID:28041643 PMID:28492532 |
|
NCBI chrNW_004936767:855,811...866,941
Ensembl chrNW_004936767:855,856...866,554
|
|
G |
Rho |
rhodopsin |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:1301135 PMID:1302614 PMID:1303237 PMID:1418997 PMID:1484692 PMID:1580841 PMID:1765377 PMID:1808803 PMID:1833777 PMID:1862076 PMID:1882937 PMID:1897520 PMID:1924344 PMID:1929926 PMID:1985460 PMID:1987955 PMID:1987956 PMID:2137202 PMID:2215617 PMID:2239971 PMID:2333895 PMID:2573063 PMID:2613244 PMID:7523628 PMID:7724183 PMID:7819178 PMID:7981701 PMID:7987326 PMID:7987331 PMID:8081400 PMID:8088850 PMID:8099498 PMID:8253795 PMID:8317502 PMID:8328469 PMID:8554077 PMID:8841304 PMID:8905849 PMID:8943080 PMID:9010870 PMID:9197578 PMID:9380676 PMID:9452035 PMID:9536098 PMID:9538004 PMID:9618546 PMID:9724753 PMID:9810568 PMID:10189219 PMID:10967073 PMID:11094174 PMID:11139241 PMID:11879142 PMID:12091393 PMID:12660238 PMID:12871954 PMID:14769795 PMID:15126168 PMID:15509574 PMID:16170112 PMID:16799052 PMID:17014888 PMID:17488458 PMID:17576681 PMID:18175313 PMID:18310263 PMID:19085385 PMID:19913029 PMID:19933196 PMID:19958124 PMID:20164459 PMID:20532191 PMID:20555336 PMID:20805032 PMID:21094163 PMID:21174529 PMID:21219898 PMID:21352497 PMID:22110080 PMID:22164218 PMID:22252712 PMID:22321012 PMID:22323724 PMID:22334370 PMID:23402891 PMID:23625926 PMID:23940033 PMID:24106275 PMID:24265693 PMID:24520188 PMID:24853414 PMID:24935155 PMID:25097241 PMID:25101269 PMID:25221422 PMID:25356976 PMID:25366773 PMID:25741868 PMID:26161267 PMID:26202387 PMID:26962691 PMID:28041643 PMID:28045043 PMID:28076437 PMID:28341476 PMID:28492532 PMID:28559085 PMID:29068140 PMID:29099798 PMID:29453956 PMID:29463953 PMID:29847639 PMID:29890221 PMID:30240733 PMID:30718709 PMID:30977563 PMID:31054281 PMID:31213501 PMID:31319082 PMID:31877679 PMID:31908405 PMID:31960602 PMID:32037395 PMID:32531858 PMID:33347869 PMID:33576794 PMID:34906470 PMID:36909829 More...
|
|
NCBI chrNW_004936602:896,730...901,480
Ensembl chrNW_004936602:894,617...901,664
|
|
G |
Ric3 |
RIC3 acetylcholine receptor chaperone |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:36498982 |
|
NCBI chrNW_004936528:9,790,594...9,829,120
Ensembl chrNW_004936528:9,790,463...9,825,777
|
|
G |
Rims1 |
regulating synaptic membrane exocytosis 1 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:9634506 PMID:12659814 PMID:18690027 PMID:25741868 PMID:27176872 PMID:28492532 PMID:35947379 More...
|
|
NCBI chrNW_004936618:3,678,400...4,047,994
Ensembl chrNW_004936618:3,606,524...4,047,711
|
|
G |
Rlbp1 |
retinaldehyde binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:2392416 PMID:10102298 PMID:10102299 PMID:11301032 PMID:11449319 PMID:12536144 PMID:15234312 PMID:15953459 PMID:18344446 PMID:19846785 PMID:20238024 PMID:21447491 PMID:22164218 PMID:22171637 PMID:22183382 PMID:22551409 PMID:23929416 PMID:25326637 PMID:25429852 PMID:25741868 PMID:26355662 PMID:28041643 PMID:28492532 PMID:31456290 PMID:32188692 PMID:33851411 More...
|
|
NCBI chrNW_004936483:15,086,485...15,097,980
Ensembl chrNW_004936483:15,084,756...15,096,072
|
|
G |
Rlig1 |
RNA 5'-phosphate and 3'-OH ligase 1 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936507:5,210,561...5,223,320
Ensembl chrNW_004936507:5,210,504...5,223,728
|
|
G |
Rom1 |
retinal outer segment membrane protein 1 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:7904211 PMID:8202715 PMID:8595413 PMID:9331261 PMID:16799052 PMID:25741868 PMID:28492532 PMID:30718709 More...
|
|
NCBI chrNW_004936581:642,322...644,286
Ensembl chrNW_004936581:641,753...644,637
|
|
G |
Rp1 |
RP1 axonemal microtubule associated |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:1783394 PMID:8931712 PMID:10391211 PMID:10391212 PMID:10401003 PMID:11095597 PMID:11139241 PMID:11317367 PMID:11527933 PMID:11694261 PMID:12764676 PMID:15183808 PMID:15933747 PMID:15994872 PMID:16185528 PMID:19933189 PMID:20664799 PMID:22334370 PMID:23049240 PMID:23105016 PMID:23424971 PMID:23991373 PMID:24033266 PMID:24339724 PMID:25097241 PMID:25494902 PMID:25692139 PMID:25698705 PMID:25741868 PMID:26355662 PMID:27160483 PMID:27208204 PMID:27391102 PMID:27623337 PMID:28041643 PMID:28076437 PMID:28492532 PMID:29068140 PMID:29425069 PMID:29641573 PMID:29785639 PMID:29847639 PMID:30027431 PMID:30718709 PMID:30731082 PMID:30913292 PMID:31047384 PMID:31054281 PMID:31213501 PMID:31253780 PMID:31456290 PMID:32100970 PMID:32193659 PMID:32562694 PMID:32565670 PMID:32783370 PMID:33090715 PMID:33546218 PMID:33576794 PMID:33681214 PMID:33946315 PMID:34073704 PMID:34721897 PMID:34906470 PMID:36284460 PMID:36909829 More...
|
|
NCBI chrNW_004936496:1,524,123...1,583,114
|
|
G |
Rp1l1 |
RP1 like 1 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:20826268 PMID:22504327 PMID:23281133 PMID:23619761 PMID:23745001 PMID:24838559 PMID:25324289 PMID:25741868 PMID:25908487 PMID:26782618 PMID:27029556 PMID:27623337 PMID:28492532 PMID:30025130 PMID:31087526 PMID:31213501 PMID:36819107 More...
|
|
NCBI chrNW_004936675:2,527,406...2,564,464
|
|
G |
Rp2 |
RP2 activator of ARL3 GTPase |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:9536098 PMID:9697692 PMID:10053026 PMID:10090907 PMID:10520237 PMID:10937588 PMID:10942419 PMID:11262649 PMID:11826029 PMID:11992260 PMID:12657579 PMID:15032968 PMID:16199547 PMID:16472755 PMID:17093403 PMID:17576681 PMID:18376416 PMID:18552978 PMID:20021257 PMID:20625056 PMID:20669900 PMID:21738648 PMID:22072390 PMID:23150612 PMID:24940031 PMID:25097241 PMID:25133751 PMID:25356976 PMID:25412400 PMID:25741868 PMID:26355662 PMID:28041643 PMID:28209709 PMID:28492532 PMID:30718709 PMID:31456290 PMID:32244552 PMID:32875684 More...
|
|
NCBI chrNW_004936502:12,656,187...12,701,689
Ensembl chrNW_004936502:12,656,043...12,701,742
|
|
G |
Rp9 |
RP9 pre-mRNA splicing factor |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936478:8,687,584...8,722,345
|
|
G |
Rpe65 |
retinoid isomerohydrolase RPE65 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:9326941 PMID:9501220 PMID:9536098 PMID:9843205 PMID:10766140 PMID:10937591 PMID:11095629 PMID:11462243 PMID:11786058 PMID:12960219 PMID:15024725 PMID:15557452 PMID:16123401 PMID:16150724 PMID:16199547 PMID:16205573 PMID:16754667 PMID:17576681 PMID:17724218 PMID:17964524 PMID:18599565 PMID:18632300 PMID:18682808 PMID:18722466 PMID:19117922 PMID:19431183 PMID:19854499 PMID:19959640 PMID:20043869 PMID:20604683 PMID:20683928 PMID:21151602 PMID:21153841 PMID:21211845 PMID:21654732 PMID:21911650 PMID:24849605 PMID:24997176 PMID:25257057 PMID:25324289 PMID:25495949 PMID:25525159 PMID:25741868 PMID:25752820 PMID:25972377 PMID:26024124 PMID:26427455 PMID:26626312 PMID:26906952 PMID:27208204 PMID:27307694 PMID:27874104 PMID:28041643 PMID:28041994 PMID:28224992 PMID:28492532 PMID:29178642 PMID:29332120 PMID:29659842 PMID:29681726 PMID:29785639 PMID:29947567 PMID:30025081 PMID:30268864 PMID:30628748 PMID:30718709 PMID:30996589 PMID:31273949 PMID:31379919 PMID:31456290 PMID:31630094 PMID:31736247 PMID:32037395 PMID:32165824 PMID:32581362 PMID:33308271 PMID:33494148 PMID:33629268 PMID:33952291 PMID:34492281 PMID:34906470 PMID:35129589 PMID:35836572 PMID:36460718 More...
|
|
NCBI chrNW_004936591:3,347,346...3,368,062
Ensembl chrNW_004936591:3,347,272...3,368,015
|
|
G |
Rpgr |
retinitis pigmentosa GTPase regulator |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:8673101 PMID:8817343 PMID:9326322 PMID:9399904 PMID:9536098 PMID:9855162 PMID:10480356 PMID:10737996 PMID:10932196 PMID:10937588 PMID:11180598 PMID:11754050 PMID:11857109 PMID:11875055 PMID:11992260 PMID:12160730 PMID:12402343 PMID:12657579 PMID:14564670 PMID:15734019 PMID:16055928 PMID:16199547 PMID:16387007 PMID:16969763 PMID:17195164 PMID:17576681 PMID:17724181 PMID:18332319 PMID:19815619 PMID:20631154 PMID:21326217 PMID:21857984 PMID:21866333 PMID:22264887 PMID:22888088 PMID:23150612 PMID:23213406 PMID:23372056 PMID:23681342 PMID:24033266 PMID:25352739 PMID:25356976 PMID:25741868 PMID:26197217 PMID:26872967 PMID:27596865 PMID:27620828 PMID:28322733 PMID:28492532 PMID:28912962 PMID:29528978 PMID:29721948 PMID:29785639 PMID:30029497 PMID:30622176 PMID:30718709 PMID:30887160 PMID:30917587 PMID:30924848 PMID:31054281 PMID:31087526 PMID:31213501 PMID:31456290 PMID:31645972 PMID:31804667 PMID:31953110 PMID:32037395 PMID:32679846 PMID:32702353 PMID:33090715 PMID:33467000 PMID:33576794 PMID:34327195 PMID:34906470 PMID:34985506 More...
|
|
NCBI chrNW_004936502:5,163,164...5,212,940
|
|
G |
Rpgrip1 |
RPGR interacting protein 1 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:11528500 PMID:15024725 PMID:16199547 PMID:23105016 PMID:25445212 PMID:25741868 PMID:26047050 PMID:27208204 PMID:28492532 PMID:28559085 PMID:28714225 PMID:30072743 PMID:30576320 PMID:31429209 More...
|
|
NCBI chrNW_004936880:440,900...511,503
Ensembl chrNW_004936880:440,737...512,685
|
|
G |
Rpgrip1l |
RPGRIP1 like |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936475:6,219,187...6,321,612
Ensembl chrNW_004936475:6,215,475...6,321,618
|
|
G |
Rs1 |
retinoschisin 1 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:618178 PMID:9326935 PMID:9536098 PMID:9618178 PMID:9760195 PMID:10220153 PMID:10234514 PMID:10533068 PMID:10589241 PMID:10636421 PMID:10636740 PMID:10922205 PMID:10947001 PMID:12417531 PMID:12746437 PMID:12920343 PMID:12928282 PMID:15932525 PMID:15937075 PMID:16167295 PMID:16361673 PMID:16900931 PMID:17172462 PMID:17296904 PMID:17304551 PMID:17515881 PMID:17576681 PMID:17615541 PMID:17987333 PMID:18369700 PMID:18541843 PMID:18834580 PMID:19093009 PMID:19324861 PMID:19390641 PMID:20061330 PMID:20809529 PMID:21701876 PMID:22110067 PMID:22245991 PMID:22332228 PMID:23288992 PMID:23453514 PMID:23514609 PMID:23568735 PMID:23847049 PMID:24634885 PMID:25525159 PMID:25741868 PMID:25799783 PMID:26356828 PMID:26872967 PMID:27032803 PMID:27246168 PMID:27788217 PMID:28221463 PMID:28272453 PMID:28348004 PMID:28492532 PMID:28559085 PMID:29851975 PMID:29902095 PMID:30551202 PMID:30652005 PMID:30923717 PMID:31087526 PMID:31725702 PMID:32300273 PMID:33460243 PMID:33546218 PMID:33781268 PMID:34624300 PMID:34822951 PMID:35456481 More...
|
|
NCBI chrNW_004936844:284,938...314,524
Ensembl chrNW_004936844:284,141...314,545
|
|
G |
Sag |
S-antigen visual arrestin |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:7670478 PMID:9452120 PMID:9501883 PMID:9565049 PMID:15234147 PMID:15295660 PMID:16199547 PMID:17200654 PMID:18175313 PMID:20981092 PMID:21151602 PMID:21447990 PMID:21922265 PMID:21987685 PMID:22419846 PMID:22665972 PMID:22995991 PMID:25268133 PMID:25741868 PMID:28492532 PMID:28549094 PMID:29305604 PMID:33047631 More...
|
|
NCBI chrNW_004936525:3,932,118...3,965,651
Ensembl chrNW_004936525:3,931,933...3,964,834
|
|
G |
Sema4a |
semaphorin 4A |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:25741868 PMID:26103963 PMID:28492532 PMID:32483926 |
|
NCBI chrNW_004936580:5,404,380...5,431,183
Ensembl chrNW_004936580:5,406,194...5,431,185
|
|
G |
Sgsh |
N-sulfoglucosamine sulfohydrolase |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:9401012 PMID:15146460 PMID:18407553 PMID:21061399 PMID:21671382 PMID:22976768 PMID:25741868 PMID:26787381 PMID:28492532 PMID:29023963 PMID:31536183 PMID:32581362 More...
|
|
NCBI chrNW_004936594:4,195,217...4,203,802
Ensembl chrNW_004936594:4,193,983...4,204,008
|
|
G |
Slc19a1 |
solute carrier family 19 member 1 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:12415512 PMID:19160445 PMID:19390655 PMID:20799329 PMID:21862674 PMID:23667181 PMID:25456301 PMID:25741868 PMID:28041643 PMID:28492532 PMID:29977801 PMID:34828430 More...
|
|
NCBI chrNW_004936778:823,376...846,843
Ensembl chrNW_004936778:829,550...848,833
|
|
G |
Slc24a1 |
solute carrier family 24 member 1 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:12037007 PMID:20850105 PMID:25741868 PMID:26822852 PMID:28492532 |
|
NCBI chrNW_004936471:25,872,854...25,909,102
Ensembl chrNW_004936471:25,872,423...25,908,158
|
|
G |
Slc7a14 |
solute carrier family 7 member 14 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:24670872 PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936593:1,938,392...2,045,639
Ensembl chrNW_004936593:1,991,491...2,044,329
|
|
G |
Spata7 |
spermatogenesis associated 7 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:19268277 PMID:20104588 PMID:20301475 PMID:21310915 PMID:21602930 PMID:22136677 PMID:22334370 PMID:23847139 PMID:25133751 PMID:25412400 PMID:25741868 PMID:26047050 PMID:26261414 PMID:27208204 PMID:28492532 PMID:29411205 PMID:31908400 More...
|
|
NCBI chrNW_004936488:15,878,167...15,911,301
Ensembl chrNW_004936488:15,878,158...15,911,415
|
|
G |
Spp2 |
secreted phosphoprotein 2 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936525:3,360,978...3,384,035
Ensembl chrNW_004936525:3,360,990...3,383,934
|
|
G |
Syn3 |
synapsin III |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:23023527 PMID:26493035 PMID:27601084 PMID:28492532 PMID:28559085 PMID:35679059 More...
|
|
NCBI chrNW_004936492:6,836,441...7,253,867
Ensembl chrNW_004936492:6,876,684...7,253,375
|
|
G |
Tead3 |
TEA domain transcription factor 3 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:9462750 PMID:25741868 PMID:26427415 PMID:28492532 PMID:32531858 |
|
NCBI chrNW_004936476:23,766,021...23,776,785
Ensembl chrNW_004936476:23,766,012...23,779,349
|
|
G |
Timp3 |
TIMP metallopeptidase inhibitor 3 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:23023527 PMID:26493035 PMID:27601084 PMID:28492532 PMID:28559085 PMID:35679059 More...
|
|
NCBI chrNW_004936492:6,996,627...7,046,137
Ensembl chrNW_004936492:6,996,613...7,046,190
|
|
G |
Topors |
TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:17924349 PMID:18509552 PMID:22581970 PMID:23950152 PMID:25741868 PMID:26155838 PMID:26872967 PMID:28076437 PMID:28453362 PMID:28492532 More...
|
|
NCBI chrNW_004936524:1,219,101...1,229,937
Ensembl chrNW_004936524:1,219,907...1,229,723
|
|
G |
Trex1 |
three prime repair exonuclease 1 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936529:264,535...266,451
Ensembl chrNW_004936529:264,468...266,422
|
|
G |
Trnt1 |
tRNA nucleotidyl transferase 1 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:24033266 PMID:25193871 PMID:25741868 PMID:27389523 PMID:27531075 PMID:28492532 PMID:29358286 PMID:30758723 More...
|
|
NCBI chrNW_004936577:2,814,464...2,834,068
Ensembl chrNW_004936577:2,814,390...2,832,790
|
|
G |
Trpm1 |
transient receptor potential cation channel subfamily M member 1 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:16199547 PMID:19896109 PMID:19896113 PMID:19966281 PMID:20300565 PMID:23714322 PMID:28492532 PMID:28559085 PMID:29522070 More...
|
|
NCBI chrNW_004936483:723,784...856,839
Ensembl chrNW_004936483:724,018...858,855
|
|
G |
Tspan1 |
tetraspanin 1 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:12588800 PMID:12849864 PMID:19299310 PMID:20816175 PMID:21447391 PMID:22819665 PMID:23453855 PMID:23689641 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26908613 PMID:27391550 PMID:27493216 PMID:28492532 PMID:29096039 PMID:29302074 PMID:31066047 PMID:32404165 PMID:33200426 More...
|
|
NCBI chrNW_004936474:27,221,691...27,227,226
Ensembl chrNW_004936474:27,221,586...27,227,015
|
|
G |
Tspan12 |
tetraspanin 12 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:9536098 PMID:17576681 PMID:20159112 PMID:21334594 PMID:28492532 |
|
NCBI chrNW_004936605:4,265,475...4,338,518
Ensembl chrNW_004936605:4,265,316...4,338,526
|
|
G |
Ttc21b |
tetratricopeptide repeat domain 21B |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:18327258 PMID:18414213 PMID:21068128 PMID:21258341 PMID:23559409 PMID:24876116 PMID:25492405 PMID:25741868 PMID:26940125 PMID:27491411 PMID:28492532 PMID:29068549 PMID:29127259 PMID:33532864 More...
|
|
NCBI chrNW_004936469:13,365,168...13,454,340
Ensembl chrNW_004936469:13,365,087...13,454,340
|
|
G |
Ttc8 |
tetratricopeptide repeat domain 8 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:9536098 PMID:16308660 PMID:17576681 PMID:20177705 PMID:21044901 PMID:24033266 PMID:25741868 PMID:26401321 PMID:28492532 PMID:28914264 PMID:29030401 PMID:30718709 PMID:30886724 PMID:32962042 PMID:33138063 More...
|
|
NCBI chrNW_004936488:16,258,247...16,306,077
Ensembl chrNW_004936488:16,258,058...16,306,589
|
|
G |
Ttll5 |
tubulin tyrosine ligase like 5 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:24791901 PMID:25741868 PMID:27162334 PMID:28173158 PMID:28492532 PMID:32531858 More...
|
|
NCBI chrNW_004936488:4,723,314...4,983,926
Ensembl chrNW_004936488:4,724,909...4,983,318
|
|
G |
Tub |
TUB bipartite transcription factor |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:36498982 |
|
NCBI chrNW_004936528:9,829,889...9,912,645
Ensembl chrNW_004936528:9,834,954...9,855,080
|
|
G |
Tulp1 |
TUB like protein 1 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:8606774 PMID:9462750 PMID:9462751 PMID:9536098 PMID:9660588 PMID:10440267 PMID:10549638 PMID:15024725 PMID:15557452 PMID:17576681 PMID:17962469 PMID:18055821 PMID:22605927 PMID:22665969 PMID:24265693 PMID:25268133 PMID:25324289 PMID:25342620 PMID:25741868 PMID:26047050 PMID:26355662 PMID:26427415 PMID:26766544 PMID:28127548 PMID:28492532 PMID:28981474 PMID:29625443 PMID:29641573 PMID:29843741 PMID:30337596 PMID:30718709 PMID:31054281 PMID:31213501 PMID:31630094 PMID:32531858 PMID:32901917 PMID:33090715 PMID:33173045 PMID:33781268 PMID:33946315 PMID:34906470 More...
|
|
NCBI chrNW_004936476:23,744,707...23,757,002
Ensembl chrNW_004936476:23,744,757...23,756,565
|
|
G |
Ush1c |
USH1 protein network component harmonin |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:10973247 PMID:10973248 PMID:11139240 PMID:12107438 PMID:12630964 PMID:12702164 PMID:17407589 PMID:20301442 PMID:21203349 PMID:21569298 PMID:22135276 PMID:24033266 PMID:25741868 PMID:26969326 PMID:27208204 PMID:28041643 PMID:28492532 PMID:30303587 PMID:30718709 More...
|
|
NCBI chrNW_004936528:1,552,175...1,594,740
Ensembl chrNW_004936528:1,552,289...1,594,801
|
|
G |
Ush2a |
usherin |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:1968399 PMID:2525289 PMID:2564938 PMID:9536098 PMID:9624053 PMID:10090909 PMID:10729113 PMID:10738000 PMID:10775529 PMID:10909849 PMID:11311042 PMID:11402400 PMID:12112664 PMID:12427073 PMID:12525556 PMID:12786748 PMID:14970843 PMID:15015129 PMID:15025721 PMID:15043528 PMID:15241801 PMID:15325563 PMID:15326663 PMID:15671307 PMID:15823922 PMID:16098008 PMID:16199547 PMID:16963483 PMID:17085681 PMID:17296898 PMID:17405132 PMID:17576681 PMID:18273898 PMID:18281613 PMID:18452394 PMID:18463160 PMID:18641288 PMID:18665192 PMID:18665195 PMID:19023448 PMID:19129697 PMID:19683999 PMID:19737284 PMID:19881469 PMID:20052763 PMID:20145675 PMID:20301515 PMID:20309401 PMID:20440071 PMID:20497194 PMID:20507924 PMID:20513143 PMID:20591486 PMID:20596040 PMID:20613545 PMID:21151602 PMID:21569298 PMID:21593743 PMID:21686329 PMID:21738395 PMID:21909055 PMID:22004887 PMID:22009552 PMID:22025579 PMID:22135276 PMID:22334370 PMID:22563300 PMID:22581970 PMID:22681893 PMID:22952768 PMID:23029027 PMID:23352160 PMID:23591405 PMID:23661368 PMID:23737954 PMID:23755871 PMID:23767834 PMID:23804846 PMID:23924366 PMID:23940504 PMID:23967202 PMID:23991284 PMID:24033266 PMID:24043777 PMID:24088041 PMID:24154662 PMID:24160897 PMID:24164807 PMID:24265693 PMID:24367894 PMID:24498627 PMID:24516651 PMID:24603341 PMID:24607488 PMID:24625443 PMID:24853665 PMID:24901346 PMID:24938718 PMID:24944099 PMID:25078356 PMID:25097241 PMID:25133613 PMID:25133751 PMID:25211151 PMID:25252889 PMID:25261458 PMID:25262649 PMID:25268133 PMID:25324289 PMID:25326637 PMID:25333064 PMID:25342620 PMID:25356976 PMID:25366773 PMID:25373420 PMID:25375654 PMID:25404053 PMID:25412400 PMID:25425308 PMID:25445212 PMID:25472526 PMID:25474345 PMID:25521520 PMID:25525159 PMID:25558175 PMID:25575603 PMID:25649381 PMID:25741868 PMID:25804404 PMID:25823529 PMID:25910913 PMID:25991456 PMID:25999674 PMID:26075083 PMID:26164827 PMID:26261414 PMID:26306921 PMID:26310143 PMID:26338283 PMID:26346818 PMID:26355662 PMID:26416264 PMID:26467025 PMID:26496393 PMID:26629787 PMID:26633545 PMID:26654877 PMID:26667666 PMID:26764160 PMID:26766544 PMID:26806561 PMID:26856745 PMID:26868535 PMID:26872967 PMID:26927203 PMID:26969326 PMID:26992781 PMID:27032803 PMID:27057829 PMID:27145477 PMID:27157150 PMID:27160483 PMID:27208204 PMID:27318125 PMID:27344577 PMID:27460420 PMID:27583663 PMID:27596865 PMID:27624628 PMID:27957503 PMID:28000701 PMID:28005958 PMID:28041643 PMID:28118666 PMID:28127548 PMID:28130426 PMID:28157192 PMID:28224992 PMID:28281779 PMID:28430325 PMID:28492532 PMID:28512305 PMID:28559085 PMID:28653555 PMID:28678594 PMID:28714225 PMID:28761320 PMID:28838317 PMID:28894305 PMID:28944237 PMID:28981474 PMID:28984810 PMID:29074561 PMID:29142287 PMID:29151245 PMID:29178603 PMID:29196752 PMID:29276052 PMID:29283788 PMID:29293505 PMID:29343940 PMID:29490346 PMID:29588463 PMID:29625443 PMID:29641573 PMID:29655801 PMID:29767709 PMID:29785639 PMID:29847639 PMID:29899460 PMID:29912909 PMID:29953849 PMID:30029497 PMID:30073356 PMID:30190494 PMID:30245029 PMID:30280194 PMID:30311386 PMID:30358468 PMID:30390381 PMID:30459346 PMID:30543658 PMID:30718709 PMID:30733538 PMID:30796641 PMID:30872814 PMID:30902645 PMID:30924848 PMID:30948794 PMID:31047384 PMID:31054281 PMID:31152317 PMID:31213501 PMID:31370859 PMID:31429209 PMID:31456290 PMID:31541171 PMID:31589614 PMID:31674169 PMID:31699113 PMID:31736247 PMID:31816670 PMID:31817543 PMID:31836858 PMID:31872526 PMID:31877679 PMID:31904091 PMID:31960602 PMID:31998945 PMID:32036094 PMID:32037395 PMID:32050993 PMID:32093671 PMID:32098976 PMID:32176120 PMID:32188678 PMID:32203226 PMID:32467589 PMID:32531858 PMID:32552793 PMID:32579692 PMID:32581362 PMID:32637036 PMID:32646269 PMID:32675063 PMID:32893482 PMID:33089500 PMID:33090715 PMID:33105608 PMID:33111345 PMID:33111992 PMID:33124170 PMID:33269433 PMID:33297549 PMID:33576794 PMID:33629268 PMID:33691693 PMID:33708524 PMID:33749171 PMID:33926394 PMID:33946315 PMID:34008892 PMID:34031601 PMID:34203883 PMID:34203967 PMID:34416374 PMID:34426522 PMID:34599368 PMID:34721897 PMID:34837038 PMID:34906470 PMID:34948090 PMID:35076463 PMID:35106950 PMID:35266249 PMID:35672425 PMID:35836572 PMID:36011334 PMID:36284460 PMID:36314366 PMID:36362125 PMID:36460718 PMID:36819107 PMID:36909829 PMID:37322672 More...
|
|
NCBI chrNW_004936628:2,123,917...2,859,958
Ensembl chrNW_004936628:2,123,957...2,858,872
|
|
G |
Vcan |
versican |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:16043844 PMID:16877430 PMID:21738396 PMID:22739342 PMID:28492532 |
|
NCBI chrNW_004936469:2,585,142...2,688,029
Ensembl chrNW_004936469:2,585,134...2,688,029
|
|
G |
Vps13b |
vacuolar protein sorting 13 homolog B |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
|
|
NCBI chrNW_004936470:43,281,905...43,952,523
Ensembl chrNW_004936470:43,281,469...43,951,805
|
|
G |
Wdr19 |
WD repeat domain 19 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:22019273 PMID:23559409 PMID:23683095 PMID:25741868 PMID:26275793 PMID:26489029 PMID:27241786 PMID:28492532 PMID:29068549 PMID:30586318 PMID:34295353 More...
|
|
NCBI chrNW_004936482:6,863,592...6,937,810
Ensembl chrNW_004936482:6,863,571...6,937,979
|
|
G |
Whrn |
whirlin |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:24033266 PMID:27208204 PMID:28492532 |
|
NCBI chrNW_004936487:3,668,465...3,748,234
Ensembl chrNW_004936487:3,669,104...3,748,238
|
|
G |
Zdhhc24 |
zinc finger DHHC-type containing 24 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:12118255 PMID:12524598 PMID:12677556 PMID:12837689 PMID:12920096 PMID:15314642 PMID:16199547 PMID:17003356 PMID:17065520 PMID:17980398 PMID:18032602 PMID:18669544 PMID:18766993 PMID:20301537 PMID:20472660 PMID:20498079 PMID:21052717 PMID:21520335 PMID:21642631 PMID:22581970 PMID:22940089 PMID:22998390 PMID:23143442 PMID:23565731 PMID:23847139 PMID:23943788 PMID:24033266 PMID:25326635 PMID:25741868 PMID:26467025 PMID:26872967 PMID:27032803 PMID:27659767 PMID:28041643 PMID:28224992 PMID:28492532 PMID:29264490 PMID:30076350 PMID:30614526 PMID:30718709 PMID:31213501 PMID:33532864 PMID:34940782 PMID:36909829 More...
|
|
NCBI chrNW_004936599:3,047,011...3,054,512
Ensembl chrNW_004936599:3,047,011...3,054,498
|
|
G |
Zfyve26 |
zinc finger FYVE-type containing 26 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:9536098 PMID:15258582 PMID:15322982 PMID:16269441 PMID:17389517 PMID:17512964 PMID:17576681 PMID:18779497 PMID:19011012 PMID:20301475 PMID:20683928 PMID:20736127 PMID:21151602 PMID:22065924 PMID:23591405 PMID:23847139 PMID:24265693 PMID:24625443 PMID:25412400 PMID:25494902 PMID:25741868 PMID:25910913 PMID:26047050 PMID:26103963 PMID:26667666 PMID:26848971 PMID:26992781 PMID:27208204 PMID:28041643 PMID:28492532 PMID:28559085 PMID:29178642 PMID:30372751 PMID:30543658 PMID:30718709 PMID:30902645 PMID:30979730 PMID:31456290 PMID:32141364 PMID:32322264 PMID:32790509 PMID:33090715 PMID:33576794 PMID:34001834 PMID:35994252 PMID:36284670 PMID:36690427 PMID:36909829 More...
|
|
NCBI chrNW_004936495:11,132,025...11,191,446
Ensembl chrNW_004936495:11,134,138...11,190,863
|
|
G |
Znf408 |
zinc finger protein 408 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:23716654 PMID:25741868 PMID:25882705 PMID:26167114 PMID:28492532 PMID:29721947 PMID:30097784 PMID:33247286 More...
|
|
NCBI chrNW_004936562:2,394,368...2,400,924
Ensembl chrNW_004936562:2,393,751...2,400,650
|
|
G |
Znf513 |
zinc finger protein 513 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936493:5,203,926...5,207,031
Ensembl chrNW_004936493:5,204,020...5,207,025
|
|
|
G |
Alms1 |
ALMS1 centrosome and basal body associated protein |
susceptibility |
ISO |
ClinVar Annotator: match by term: ALMS1-related condition | ClinVar Annotator: match by term: Alstrom syndrome | ClinVar Annotator: match by term: Alstrom's syndrome DNA:frameshift mutations, nonsense mutations |
OMIM ClinVar RGD |
PMID:9063741 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: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: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: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:34906470 PMID:34935411 PMID:35211159 PMID:36109815 PMID:36162988 PMID:36178741 PMID:36252119 PMID:36413997 PMID:36460718 PMID:36685911 More...
|
RGD:1601169 |
NCBI chrNW_004936491:17,152,759...17,342,648
|
|
G |
Cct7 |
chaperonin containing TCP1 subunit 7 |
|
ISO |
ClinVar Annotator: match by term: Alstrom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936491:17,017,687...17,033,526
Ensembl chrNW_004936491:17,017,687...17,033,855
|
|
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...
|
|
NCBI chrNW_004936631:484,356...489,643
Ensembl chrNW_004936631:484,356...489,643
|
|
G |
Egr4 |
early growth response 4 |
|
ISO |
ClinVar Annotator: match by term: Alstrom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936491:17,068,797...17,071,608
Ensembl chrNW_004936491:17,069,325...17,071,226
|
|
G |
Emx1 |
empty spiracles homeobox 1 |
|
ISO |
ClinVar Annotator: match by term: Alstrom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936491:16,745,310...16,762,422
Ensembl chrNW_004936491:16,745,310...16,762,422
|
|
G |
Fbxo41 |
F-box protein 41 |
|
ISO |
ClinVar Annotator: match by term: Alstrom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936491:17,035,988...17,048,165
Ensembl chrNW_004936491:17,034,169...17,061,752
|
|
G |
Noto |
notochord homeobox |
|
ISO |
ClinVar Annotator: match by term: Alstrom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936491:16,987,797...16,996,423
Ensembl chrNW_004936491:16,987,642...16,996,579
|
|
G |
Pradc1 |
protease associated domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Alstrom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936491:17,011,999...17,016,773
Ensembl chrNW_004936491:17,009,723...17,016,784
|
|
G |
Rab11fip5 |
RAB11 family interacting protein 5 |
|
ISO |
ClinVar Annotator: match by term: Alstrom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936491:16,883,972...16,919,539
Ensembl chrNW_004936491:16,886,065...16,919,545
|
|
G |
Sfxn5 |
sideroflexin 5 |
|
ISO |
ClinVar Annotator: match by term: Alstrom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936491:16,769,960...16,882,776
Ensembl chrNW_004936491:16,769,979...16,882,781
|
|
G |
Smyd5 |
SMYD family member 5 |
|
ISO |
ClinVar Annotator: match by term: Alstrom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936491:16,997,962...17,011,470
Ensembl chrNW_004936491:16,997,962...17,011,551
|
|
G |
Spr |
sepiapterin reductase |
|
ISO |
ClinVar Annotator: match by term: Alstrom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936491:16,693,940...16,699,040
|
|
G |
Tango2 |
transport and golgi organization 2 homolog |
|
ISO |
ClinVar Annotator: match by term: Alstrom syndrome ClinVar Annotator: match by term: Alstrom's syndrome |
ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:30245509 PMID:31276219 More...
|
|
NCBI chrNW_004936619:3,934,791...3,973,695
Ensembl chrNW_004936619:3,934,314...3,975,240
|
|
|
G |
Cnnm4 |
cyclin and CBS domain divalent metal cation transport mediator 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
|
NCBI chrNW_004936744:715,523...754,148
Ensembl chrNW_004936744:714,721...771,835
|
|
|
G |
Best1 |
bestrophin 1 |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant vitreoretinochoroidopathy | ClinVar Annotator: match by term: Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 2 | ClinVar Annotator: match by term: VRCP autosomal dominant |
OMIM ClinVar |
PMID:9536098 PMID:10798642 PMID:10854112 PMID:11585313 PMID:12543751 PMID:13534955 PMID:14615048 PMID:15452077 PMID:16754206 PMID:17065513 PMID:17110374 PMID:17576681 PMID:18179881 PMID:18289629 PMID:18611979 PMID:19853238 PMID:21072067 PMID:21109774 PMID:21192766 PMID:21273940 PMID:21330666 PMID:21436265 PMID:21809908 PMID:21825197 PMID:22162627 PMID:22183385 PMID:22422030 PMID:23213274 PMID:23290749 PMID:24033266 PMID:24560797 PMID:25741868 PMID:25999674 PMID:26200502 PMID:26333019 PMID:26771239 PMID:27519691 PMID:27764019 PMID:28225368 PMID:28492532 PMID:28559085 PMID:28590961 PMID:28687848 PMID:29063836 PMID:29068140 PMID:29215532 PMID:29555955 PMID:29844330 PMID:29976937 PMID:30498755 PMID:30718709 PMID:31263784 PMID:33546218 PMID:34012682 PMID:34061021 More...
|
|
NCBI chrNW_004936581:1,120,681...1,132,226
Ensembl chrNW_004936581:1,120,474...1,132,230
|
|
G |
Fth1 |
ferritin heavy chain 1 |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant vitreoretinochoroidopathy | ClinVar Annotator: match by term: VRCP autosomal dominant |
ClinVar |
PMID:14615048 PMID:25741868 PMID:28492532 PMID:28687848 |
|
NCBI chrNW_004936581:1,118,905...1,120,592
|
|
|
G |
Rlbp1 |
retinaldehyde binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Bothnia retinal dystrophy | ClinVar Annotator: match by term: VASTERBOTTEN DYSTROPHY |
OMIM ClinVar |
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 More...
|
|
NCBI chrNW_004936483:15,086,485...15,097,980
Ensembl chrNW_004936483:15,084,756...15,096,072
|
|
|
G |
Mcoln1 |
mucolipin TRP cation channel 1 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-hypogonadism-choroidal dystrophy syndrome |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 |
|
NCBI chrNW_004936588:4,600,344...4,608,793
Ensembl chrNW_004936588:4,600,344...4,608,787
|
|
G |
Pnpla6 |
patatin like phospholipase domain containing 6 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-hypogonadism-choroidal dystrophy syndrome | ClinVar Annotator: match by term: Chorioretinal dystrophy, spinocerebellar ataxia and hypogonadotropic hypogonadism |
OMIM ClinVar |
PMID:3963113 PMID:8053762 PMID:9321767 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 More...
|
|
NCBI chrNW_004936588:4,608,856...4,632,198
Ensembl chrNW_004936588:4,608,963...4,632,183
|
|
G |
Pura |
purine rich element binding protein A |
|
ISO |
ClinVar Annotator: match by term: Chorioretinal dystrophy, spinocerebellar ataxia and hypogonadotropic hypogonadism |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936531:9,129,024...9,134,916
Ensembl chrNW_004936531:9,129,715...9,130,515
|
|
|
G |
Abca4 |
ATP binding cassette subfamily A member 4 |
|
ISO |
ClinVar Annotator: match by term: Macular dystrophy, concentric annular |
ClinVar |
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:28492532 PMID:28559085 PMID:29310964 PMID:29461686 PMID:29925512 PMID:30576320 PMID:30718709 PMID:32235935 PMID:33546218 PMID:36909829 More...
|
|
NCBI chrNW_004936537:4,969,456...5,326,682
Ensembl chrNW_004936537:5,202,093...5,323,527
|
|
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 |
OMIM ClinVar |
PMID:4412179 PMID:14691150 PMID:16199547 PMID:23993198 PMID:25741868 PMID:28492532 PMID:32817297 PMID:36909829 More...
|
|
NCBI chrNW_004936788:1,258,547...1,401,910
Ensembl chrNW_004936788:1,268,614...1,401,998
|
|
G |
LOC101960714 |
cone-rod homeobox protein |
|
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 chrNW_004936664:1,408,618...1,419,096
Ensembl chrNW_004936664:1,409,229...1,419,234
|
|
|
G |
Pde6c |
phosphodiesterase 6C |
|
ISO |
ClinVar Annotator: match by term: Cone dystrophy 4 | ClinVar Annotator: match by term: PDE6C-related condition |
OMIM ClinVar |
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 More...
|
|
NCBI chrNW_004936601:1,343,538...1,393,605
Ensembl chrNW_004936601:1,341,658...1,393,377
|
|
|
G |
Cnnm4 |
cyclin and CBS domain divalent metal cation transport mediator 4 |
|
ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy amelogenesis imperfecta |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936744:715,523...754,148
Ensembl chrNW_004936744:714,721...771,835
|
|
|
G |
Abca4 |
ATP binding cassette subfamily A member 4 |
|
ISO |
ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive | ClinVar Annotator: match by term: Cone-rod degeneration | ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant | ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive | ClinVar Annotator: match by term: Cone-rod degeneration | ClinVar Annotator: match by term: Rod-cone dystrophy |
ClinVar |
PMID:9054934 PMID:9295268 PMID:9466990 PMID:9536098 PMID:9666097 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:17325136 PMID:17325179 PMID:17576681 PMID:17724221 PMID:17982420 PMID:18024811 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:25921964 PMID:26103963 PMID:26247787 PMID:26527198 PMID:26593885 PMID:26720470 PMID:26780318 PMID:26872967 PMID:27014590 PMID:27535533 PMID:27628848 PMID:27739528 PMID:28041643 PMID:28044389 PMID:28118664 PMID:28130426 PMID:28181551 PMID:28224992 PMID:28327576 PMID:28430335 PMID:28446513 PMID:28492532 PMID:28559085 PMID:29068140 PMID:29099798 PMID:29114839 PMID:29145636 PMID:29162642 PMID:29186038 PMID:29310964 PMID:29555955 PMID:29706639 PMID:29847635 PMID:29854428 PMID:29925512 PMID:29971439 PMID:29975949 PMID:30054919 PMID:30060493 PMID:30093795 PMID:30190494 PMID:30480703 PMID:30718709 PMID:31212395 PMID:31213501 PMID:31429209 PMID:31456290 PMID:31522899 PMID:31543898 PMID:31576780 PMID:31736247 PMID:31814694 PMID:31964843 PMID:32278709 PMID:32307445 PMID:32531858 PMID:32619608 PMID:32717343 PMID:32783370 PMID:33223529 PMID:33546218 PMID:33841504 PMID:34008892 PMID:34874912 PMID:34906470 PMID:35886001 PMID:35903041 PMID:36909829 PMID:38054408 PMID:92952680 More...
|
|
NCBI chrNW_004936537:4,969,456...5,326,682
Ensembl chrNW_004936537:5,202,093...5,323,527
|
|
G |
Acbd5 |
acyl-CoA binding domain containing 5 |
|
ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936484:2,224,308...2,268,302
Ensembl chrNW_004936484:2,225,659...2,271,668
|
|
G |
Adam9 |
ADAM metallopeptidase domain 9 |
|
ISO |
ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive | ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:19409519 PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936710:2,301,470...2,388,533
Ensembl chrNW_004936710:2,301,730...2,387,695
|
|
G |
Ahi1 |
Abelson helper integration site 1 |
|
ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy | ClinVar Annotator: match by term: Rod-cone dystrophy |
ClinVar |
PMID:15322546 PMID:16155189 PMID:16453322 PMID:25525159 PMID:25616960 PMID:25741868 PMID:26035800 PMID:26092869 PMID:28118669 PMID:28442542 PMID:28492532 PMID:29186038 PMID:36819107 More...
|
|
NCBI chrNW_004936560:2,881,631...3,057,256
Ensembl chrNW_004936560:2,881,977...3,038,725
|
|
G |
Alms1 |
ALMS1 centrosome and basal body associated protein |
|
ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:17594715 PMID:25741868 PMID:26047050 PMID:26077327 PMID:28492532 PMID:29588463 More...
|
|
NCBI chrNW_004936491:17,152,759...17,342,648
|
|
G |
Arl6 |
ADP ribosylation factor like GTPase 6 |
|
ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936666:3,077,006...3,102,469
Ensembl chrNW_004936666:3,076,778...3,103,649
|
|
G |
Best1 |
bestrophin 1 |
|
ISO |
ClinVar Annotator: match by term: Rod-cone dystrophy |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936581:1,120,681...1,132,226
Ensembl chrNW_004936581:1,120,474...1,132,230
|
|
G |
Cabp4 |
calcium binding protein 4 |
|
ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:19074807 PMID:23714322 PMID:25307992 PMID:25741868 PMID:28492532 PMID:29525873 PMID:29706639 PMID:30718709 More...
|
|
NCBI chrNW_004936599:2,295,124...2,299,558
Ensembl chrNW_004936599:2,293,000...2,300,322
|
|
G |
Cacna1f |
calcium voltage-gated channel subunit alpha1 F |
|
ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar Annotator: match by term: Cone-rod dystrophy | ClinVar Annotator: match by term: Rod-cone dystrophy |
ClinVar |
PMID:25741868 PMID:28492532 PMID:30576320 PMID:30718709 PMID:36909829 |
|
NCBI chrNW_004936721:1,078,570...1,106,153
Ensembl chrNW_004936721:1,078,650...1,106,113
|
|
G |
Cacna2d4 |
calcium voltage-gated channel auxiliary subunit alpha2delta 4 |
|
ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
|
|
NCBI chrNW_004936606:2,011,454...2,118,255
Ensembl chrNW_004936606:2,012,156...2,118,167
|
|
G |
Cdhr1 |
cadherin related family member 1 |
|
ISO |
ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant | ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive | ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23044944 PMID:23233793 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:32681094 PMID:33546218 PMID:34795310 PMID:34906470 PMID:35260635 PMID:35627310 More...
|
|
NCBI chrNW_004936767:805,910...829,838
Ensembl chrNW_004936767:805,558...827,712
|
|
G |
Cep290 |
centrosomal protein 290 |
|
ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy | ClinVar Annotator: match by term: Rod-cone dystrophy |
ClinVar |
PMID:16909394 PMID:17345604 PMID:20690115 PMID:25741868 PMID:28492532 PMID:29641573 PMID:30193310 PMID:30718709 PMID:32865313 More...
|
|
NCBI chrNW_004936507:5,223,756...5,305,392
Ensembl chrNW_004936507:5,221,910...5,305,422
|
|
G |
Cep78 |
centrosomal protein 78 |
|
ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:25741868 PMID:27588451 PMID:27588452 PMID:27627988 PMID:28492532 PMID:32531858 More...
|
|
NCBI chrNW_004936503:13,524,981...13,537,449
|
|
G |
Cerkl |
ceramide kinase like |
|
ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:14681825 PMID:15708351 PMID:16199547 PMID:19578027 PMID:21151602 PMID:22164218 PMID:23591405 PMID:24043777 PMID:24123366 PMID:24625443 PMID:24705292 PMID:25097241 PMID:25741868 PMID:25999674 PMID:28041643 PMID:28492532 PMID:30718709 PMID:34906470 PMID:36909829 PMID:221642182 More...
|
|
NCBI chrNW_004936509:10,294,247...10,404,743
Ensembl chrNW_004936509:10,294,988...10,404,609
|
|
G |
Cfap20 |
cilia and flagella associated protein 20 |
|
ISO |
ClinVar Annotator: match by term: Rod-cone dystrophy |
ClinVar |
PMID:25741868 PMID:35246562 |
|
NCBI chrNW_004936475:10,011,671...10,023,643
Ensembl chrNW_004936475:10,011,616...10,023,756
|
|
G |
Cfap410 |
cilia and flagella associated protein 410 |
|
ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:25741868 PMID:27596865 PMID:28492532 PMID:31456290 |
|
NCBI chrNW_004936500:82,702...90,525
Ensembl chrNW_004936500:82,716...90,523
|
|
G |
Cfap418 |
cilia and flagella associated protein 418 |
|
ISO |
ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive |
ClinVar |
|
|
NCBI chrNW_004936544:8,170,841...8,192,896
Ensembl chrNW_004936544:8,170,081...8,192,835
|
|
G |
Cln3 |
CLN3 lysosomal/endosomal transmembrane protein, battenin |
|
ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936501:11,955,334...11,967,338
Ensembl chrNW_004936501:11,955,184...11,967,436
|
|
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...
|
|
NCBI chrNW_004936482:14,091,343...14,107,793
Ensembl chrNW_004936482:14,091,913...14,107,787
|
|
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...
|
|
NCBI chrNW_004936744:1,499,431...1,537,784
Ensembl chrNW_004936744:1,514,821...1,540,580
|
|
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:23805033 PMID:24033266 PMID:25741868 PMID:25770143 PMID:28041643 PMID:28492532 PMID:28795510 PMID:30544257 PMID:30718709 PMID:32860008 PMID:33546218 PMID:36909829 More...
|
|
NCBI chrNW_004936544:1,166,896...1,305,339
Ensembl chrNW_004936544:1,166,508...1,305,457
|
|
G |
Crb1 |
crumbs cell polarity complex component 1 |
|
ISO |
ClinVar Annotator: match by term: Cone-rod degeneration | ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:25741868 PMID:28492532 PMID:32037395 PMID:36909829 |
|
NCBI chrNW_004936567:6,347,661...6,559,731
Ensembl chrNW_004936567:6,366,489...6,559,766
|
|
G |
Dram2 |
DNA damage regulated autophagy modulator 2 |
|
ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:36909829 |
|
NCBI chrNW_004936704:2,488,370...2,513,042
Ensembl chrNW_004936704:2,490,902...2,505,547
|
|
G |
Fam161a |
FAM161 centrosomal protein A |
|
ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:20705278 PMID:20705279 PMID:24651477 PMID:25097241 PMID:25525159 PMID:25741868 PMID:25999674 PMID:26113502 PMID:26574802 PMID:28492532 PMID:30718709 PMID:34906470 More...
|
|
NCBI chrNW_004936491:7,202,877...7,221,493
Ensembl chrNW_004936491:7,212,194...7,221,618
|
|
G |
Gnptg |
N-acetylglucosamine-1-phosphate transferase subunit gamma |
|
ISO |
ClinVar Annotator: match by term: Rod-cone dystrophy |
ClinVar |
PMID:15060128 PMID:19370764 PMID:20301784 PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936694:2,529,634...2,540,474
Ensembl chrNW_004936694:2,529,640...2,540,328
|
|
G |
Gphn |
gephyrin |
|
ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy | ClinVar Annotator: match by term: Rod-cone dystrophy |
ClinVar |
PMID:15258582 PMID:16269441 PMID:20006610 PMID:22065924 PMID:23847139 PMID:24474277 PMID:25741868 PMID:27032803 PMID:28157192 PMID:28492532 PMID:30134391 PMID:32014858 PMID:36909829 More...
|
|
NCBI chrNW_004936495:9,970,683...10,565,467
Ensembl chrNW_004936495:9,972,007...10,564,591
|
|
G |
Guca1a |
guanylate cyclase activator 1A |
|
ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy | ClinVar Annotator: match by term: Rod-cone dystrophy |
ClinVar |
PMID:24352742 PMID:25741868 PMID:28492532 PMID:36909829 |
|
NCBI chrNW_004936476:17,690,484...17,701,288
Ensembl chrNW_004936476:17,691,045...17,701,859
|
|
G |
Guca1b |
guanylate cyclase activator 1B |
|
ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:24352742 PMID:25741868 |
|
NCBI chrNW_004936476:17,679,505...17,688,970
Ensembl chrNW_004936476:17,679,500...17,691,037
|
|
G |
Gucy2d |
guanylate cyclase 2D, retinal |
|
ISO |
ClinVar Annotator: match by term: Cone-rod degeneration | ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:10676808 PMID:11115851 PMID:11565546 PMID:12552567 PMID:24875811 PMID:25741868 PMID:26298565 PMID:28041643 PMID:28492532 PMID:30319355 PMID:30718709 PMID:33546218 PMID:34906470 PMID:36909829 More...
|
|
NCBI chrNW_004936595:1,235,747...1,250,294
Ensembl chrNW_004936595:1,235,711...1,250,354
|
|
G |
Ift122 |
intraflagellar transport 122 |
|
ISO |
ClinVar Annotator: match by term: Rod-cone dystrophy |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936602:908,034...956,634
Ensembl chrNW_004936602:905,486...956,521
|
|
G |
Ift88 |
intraflagellar transport 88 |
|
ISO |
ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive | ClinVar Annotator: match by term: Rod-cone dystrophy |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936720:1,041,216...1,168,725
Ensembl chrNW_004936720:1,041,211...1,168,748
|
|
G |
Impg2 |
interphotoreceptor matrix proteoglycan 2 |
|
ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936630:1,982,860...2,069,472
Ensembl chrNW_004936630:1,982,783...2,071,953
|
|
G |
Inpp5e |
inositol polyphosphate-5-phosphatase E |
|
ISO |
ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar Annotator: match by term: Cone-rod dystrophy | 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 More...
|
|
NCBI chrNW_004936669:1,377,005...1,385,287
|
|
G |
Itga4 |
integrin subunit alpha 4 |
|
ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936509:10,215,283...10,293,653
Ensembl chrNW_004936509:10,215,283...10,292,252
|
|
G |
LOC101960714 |
cone-rod homeobox protein |
|
ISO |
ClinVar Annotator: match by term: CONE-ROD RETINAL DYSTROPHY | ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant | ClinVar Annotator: match by term: Cone-rod dystrophy | ClinVar Annotator: match by term: Rod-cone dystrophy |
ClinVar |
PMID:9390563 PMID:9427255 PMID:10874321 PMID:10916183 PMID:11748859 PMID:11971869 PMID:22968130 PMID:24265693 PMID:25270190 PMID:25741868 PMID:26992781 PMID:28492532 PMID:30543658 PMID:30718709 PMID:31626798 PMID:32533067 PMID:33691693 PMID:36909829 More...
|
|
NCBI chrNW_004936664:1,408,618...1,419,096
Ensembl chrNW_004936664:1,409,229...1,419,234
|
|
G |
Lrat |
lecithin retinol acyltransferase |
|
ISO |
ClinVar Annotator: match by term: Rod-cone dystrophy |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936576:1,491,480...1,498,568
Ensembl chrNW_004936576:1,492,297...1,501,917
|
|
G |
Mc4r |
melanocortin 4 receptor |
|
ISO |
ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive |
ClinVar |
PMID:10903341 PMID:12499395 PMID:12690102 PMID:16507637 PMID:16611215 PMID:18559663 PMID:23791567 PMID:25741868 PMID:25741869 PMID:30004997 More...
|
|
NCBI chrNW_004936497:4,636,370...4,638,205
Ensembl chrNW_004936497:4,636,758...4,637,759
|
|
G |
Mfsd8 |
major facilitator superfamily domain containing 8 |
|
ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:25741868 PMID:36909829 |
|
NCBI chrNW_004936642:2,745,889...2,833,286
Ensembl chrNW_004936642:2,801,908...2,832,830
|
|
G |
Nmnat1 |
nicotinamide nucleotide adenylyltransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:25741868 PMID:26316326 PMID:28492532 |
|
NCBI chrNW_004936623:3,862,234...3,891,849
Ensembl chrNW_004936623:3,870,031...3,891,849
|
|
G |
Nr2e3 |
nuclear receptor subfamily 2 group E member 3 |
|
ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:10655056 PMID:15459973 PMID:16199547 PMID:18294254 PMID:19273793 PMID:19718767 PMID:21217109 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:32679203 PMID:34906470 PMID:36909829 More...
|
|
NCBI chrNW_004936471:31,229,322...31,236,093
Ensembl chrNW_004936471:31,229,564...31,235,654
|
|
G |
Opa1 |
OPA1 mitochondrial dynamin like GTPase |
|
ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936711:1,027,531...1,113,796
Ensembl chrNW_004936711:1,032,935...1,106,847
|
|
G |
Pank2 |
pantothenate kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:11479594 PMID:12510040 PMID:16023068 PMID:28492532 |
|
NCBI chrNW_004936485:14,785,050...14,804,258
Ensembl chrNW_004936485:14,785,467...14,811,117
|
|
G |
Pcare |
photoreceptor cilium actin regulator |
|
ISO |
ClinVar Annotator: match by term: Cone-rod degeneration |
ClinVar |
PMID:20398886 PMID:24339724 PMID:25741868 PMID:26496393 PMID:28492532 PMID:28763557 More...
|
|
NCBI chrNW_004936493:3,768,032...3,781,511
Ensembl chrNW_004936493:3,768,688...3,777,634
|
|
G |
Pde6b |
phosphodiesterase 6B |
|
ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy | ClinVar Annotator: match by term: Rod-cone dystrophy |
ClinVar |
PMID:8394174 PMID:8595886 PMID:9238087 PMID:22334370 PMID:23105016 PMID:24828262 PMID:25525159 PMID:25741868 PMID:27588261 PMID:28492532 PMID:30718709 PMID:34906470 More...
|
|
NCBI chrNW_004936477:22,418,037...22,472,251
Ensembl chrNW_004936477:22,417,453...22,472,185
|
|
G |
Pde6c |
phosphodiesterase 6C |
|
ISO |
ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936601:1,343,538...1,393,605
Ensembl chrNW_004936601:1,341,658...1,393,377
|
|
G |
Pitpnm3 |
PITPNM family member 3 |
|
ISO |
ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant | ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936677:1,451,974...1,528,864
Ensembl chrNW_004936677:1,430,391...1,529,484
|
|
G |
Pnpla6 |
patatin like phospholipase domain containing 6 |
|
ISO |
ClinVar Annotator: match by term: Rod-cone dystrophy |
ClinVar |
PMID:3963113 PMID:8053762 PMID:18313024 PMID:20603202 PMID:24355708 PMID:25480986 PMID:25741868 PMID:28492532 PMID:31135245 PMID:31712030 More...
|
|
NCBI chrNW_004936588:4,608,856...4,632,198
Ensembl chrNW_004936588:4,608,963...4,632,183
|
|
G |
Poc1b |
POC1 centriolar protein B |
|
ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936507:6,375,009...6,457,034
Ensembl chrNW_004936507:6,376,350...6,456,932
|
|
G |
Prom1 |
prominin 1 |
|
ISO |
ClinVar Annotator: match by term: CONE-ROD RETINAL DYSTROPHY | ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant | ClinVar Annotator: match by term: Cone-rod degeneration | ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:10205271 PMID:16199547 PMID:17605048 PMID:19718270 PMID:20042663 PMID:23591405 PMID:23757202 PMID:24154662 PMID:24265693 PMID:24474277 PMID:24516651 PMID:25474345 PMID:25741868 PMID:25999674 PMID:26103963 PMID:26261540 PMID:26702251 PMID:27874104 PMID:28041643 PMID:28418496 PMID:28492532 PMID:30588538 PMID:31129250 PMID:31199449 PMID:32531858 PMID:35951719 PMID:36909829 More...
|
|
NCBI chrNW_004936477:11,878,261...12,017,228
Ensembl chrNW_004936477:11,878,012...12,018,177
|
|
G |
Prph2 |
peripherin 2 |
|
ISO |
ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant | ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive | ClinVar Annotator: match by term: Cone-rod degeneration | ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant | ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive | ClinVar Annotator: match by term: Cone-rod degeneration | ClinVar Annotator: match by term: Cone-rod dystrophy | ClinVar Annotator: match by term: Rod-cone dystrophy |
ClinVar |
PMID:7493155 PMID:8015786 PMID:8111389 PMID:8302543 PMID:8485575 PMID:8485576 PMID:8675410 PMID:8747448 PMID:8994365 PMID:9010868 PMID:9279751 PMID:9331261 PMID:9443872 PMID:9536098 PMID:10193525 PMID:10532447 PMID:11139241 PMID:11704030 PMID:14510799 PMID:14557183 PMID:15370544 PMID:15779916 PMID:16019073 PMID:16113362 PMID:16767206 PMID:16799052 PMID:16885924 PMID:16916875 PMID:17504850 PMID:17576681 PMID:17653047 PMID:17698758 PMID:18310263 PMID:19038374 PMID:19262438 PMID:20213611 PMID:20640437 PMID:21071739 PMID:22183351 PMID:22466463 PMID:22863181 PMID:23950152 PMID:24463884 PMID:24608669 PMID:24629188 PMID:25001182 PMID:25082885 PMID:25097241 PMID:25268133 PMID:25474345 PMID:25675413 PMID:25741868 PMID:25803555 PMID:26061163 PMID:26103963 PMID:26155838 PMID:26161267 PMID:26667666 PMID:26796962 PMID:26842753 PMID:27365499 PMID:27884173 PMID:28492530 PMID:28492532 PMID:28559085 PMID:28838317 PMID:29343940 PMID:29555955 PMID:30718709 PMID:30726412 PMID:30926958 PMID:31213501 PMID:31429209 PMID:31456290 PMID:31574917 PMID:32531846 PMID:32717343 PMID:33546218 PMID:34240658 PMID:34906470 More...
|
|
NCBI chrNW_004936476:17,159,756...17,174,226
Ensembl chrNW_004936476:17,160,016...17,173,981
|
|
G |
Rab28 |
RAB28, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:23746546 PMID:25741868 PMID:28492532 PMID:36909829 |
|
NCBI chrNW_004936477:14,066,063...14,140,310
|
|
G |
Rax2 |
retina and anterior neural fold homeobox 2 |
|
ISO |
ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant |
ClinVar |
|
|
NCBI chrNW_004936588:2,133,398...2,135,329
Ensembl chrNW_004936588:2,134,211...2,135,358
|
|
G |
Rbp3 |
retinol binding protein 3 |
|
ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
|
|
NCBI chrNW_004936554:7,329,155...7,340,434
Ensembl chrNW_004936554:7,329,028...7,338,074
|
|
G |
Rdh12 |
retinol dehydrogenase 12 |
|
ISO |
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 |
PMID:15258582 PMID:16269441 PMID:20006610 PMID:22065924 PMID:23847139 PMID:24474277 PMID:25741868 PMID:27032803 PMID:28157192 PMID:28492532 PMID:30134391 PMID:32014858 PMID:36909829 More...
|
|
NCBI chrNW_004936495:11,111,247...11,121,976
Ensembl chrNW_004936495:11,111,105...11,121,341
|
|
G |
Rho |
rhodopsin |
|
ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:7981701 PMID:8088850 PMID:9380676 PMID:11139241 PMID:12871954 PMID:17488458 PMID:19913029 PMID:21094163 PMID:21219898 PMID:25741868 PMID:28492532 PMID:29847639 PMID:30240733 PMID:30718709 More...
|
|
NCBI chrNW_004936602:896,730...901,480
Ensembl chrNW_004936602:894,617...901,664
|
|
G |
Rims1 |
regulating synaptic membrane exocytosis 1 |
|
ISO |
ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936618:3,678,400...4,047,994
Ensembl chrNW_004936618:3,606,524...4,047,711
|
|
G |
Rlig1 |
RNA 5'-phosphate and 3'-OH ligase 1 |
|
ISO |
ClinVar Annotator: match by term: Rod-cone dystrophy |
ClinVar |
PMID:25741868 PMID:28492532 PMID:30193310 |
|
NCBI chrNW_004936507:5,210,561...5,223,320
Ensembl chrNW_004936507:5,210,504...5,223,728
|
|
G |
Rpe65 |
retinoid isomerohydrolase RPE65 |
|
ISO |
ClinVar Annotator: match by term: Cone-rod degeneration |
ClinVar |
|
|
NCBI chrNW_004936591:3,347,346...3,368,062
Ensembl chrNW_004936591:3,347,272...3,368,015
|
|
G |
Rpgr |
retinitis pigmentosa GTPase regulator |
|
ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:25741868 PMID:30718709 |
|
NCBI chrNW_004936502:5,163,164...5,212,940
|
|
G |
Rpgrip1 |
RPGR interacting protein 1 |
|
ISO |
ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive | ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:11528500 PMID:16272259 PMID:23105016 PMID:25741868 PMID:28492532 PMID:30072743 More...
|
|
NCBI chrNW_004936880:440,900...511,503
Ensembl chrNW_004936880:440,737...512,685
|
|
G |
Scaper |
S-phase cyclin A associated protein in the ER |
|
ISO |
ClinVar Annotator: match by term: Rod-cone dystrophy |
ClinVar |
PMID:28794130 |
|
NCBI chrNW_004936471:35,414,507...35,834,438
Ensembl chrNW_004936471:35,416,571...35,835,048
|
|
G |
Sema4a |
semaphorin 4A |
|
ISO |
ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936580:5,404,380...5,431,183
Ensembl chrNW_004936580:5,406,194...5,431,185
|
|
G |
Ssbp1 |
single stranded DNA binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:25741868 PMID:31298765 PMID:31550237 PMID:36909829 |
|
NCBI chrNW_004936592:5,611,775...5,620,846
Ensembl chrNW_004936592:5,614,619...5,619,627
|
|
G |
Tlcd3b |
TLC domain containing 3B |
|
ISO |
|
MouseDO |
|
|
NCBI chrNW_004936501:12,435,058...12,450,961
Ensembl chrNW_004936501:12,435,051...12,450,675
|
|
G |
Trpm6 |
transient receptor potential cation channel subfamily M member 6 |
|
ISO |
ClinVar Annotator: match by term: Rod-cone dystrophy |
ClinVar |
PMID:28041643 PMID:32581362 |
|
NCBI chrNW_004936503:10,508,989...10,637,424
Ensembl chrNW_004936503:10,508,989...10,616,972
|
|
G |
Ttll5 |
tubulin tyrosine ligase like 5 |
|
ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:16199547 PMID:24791901 PMID:25741868 PMID:27162334 PMID:28492532 PMID:36909829 More...
|
|
NCBI chrNW_004936488:4,723,314...4,983,926
Ensembl chrNW_004936488:4,724,909...4,983,318
|
|
G |
Unc119 |
unc-119 lipid binding chaperone |
|
ISO |
ClinVar Annotator: match by term: Cone-rod degeneration | ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:11006213 PMID:22184408 PMID:24033266 PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936538:4,772,236...4,778,149
Ensembl chrNW_004936538:4,772,283...4,778,137
|
|
G |
Ush2a |
usherin |
|
ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy | ClinVar Annotator: match by term: Rod-cone dystrophy 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, 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 |
PMID:2564938 PMID:9624053 PMID:10090909 PMID:10729113 PMID:10909849 PMID:11402400 PMID:12112664 PMID:12525556 PMID:14970843 PMID:15015129 PMID:15025721 PMID:15043528 PMID:15241801 PMID:15325563 PMID:15326663 PMID:16963483 PMID:17405132 PMID:18273898 PMID:18463160 PMID:18641288 PMID:18665195 PMID:19683999 PMID:19881469 PMID:20145675 PMID:20301515 PMID:20507924 PMID:20513143 PMID:21569298 PMID:22135276 PMID:22581970 PMID:23591405 PMID:23924366 PMID:24033266 PMID:24088041 PMID:24160897 PMID:24498627 PMID:24607488 PMID:24944099 PMID:25097241 PMID:25262649 PMID:25333064 PMID:25404053 PMID:25575603 PMID:25649381 PMID:25741868 PMID:25991456 PMID:26338283 PMID:26629787 PMID:26633545 PMID:26872967 PMID:26927203 PMID:27208204 PMID:27460420 PMID:27957503 PMID:28041643 PMID:28492532 PMID:28512305 PMID:28944237 PMID:29293505 PMID:29953849 PMID:30718709 PMID:31266775 PMID:31817543 PMID:31836858 PMID:31998945 PMID:32675063 PMID:33691693 PMID:34906470 PMID:36011334 PMID:36909829 More...
|
|
NCBI chrNW_004936628:2,123,917...2,859,958
Ensembl chrNW_004936628:2,123,957...2,858,872
|
|
|
G |
Pde6b |
phosphodiesterase 6B |
|
ISO |
Retinal atrophy - Cone-rod dystrophy 1 |
OMIA |
PMID:15064680 PMID:22065099 PMID:24045995 PMID:30050836 PMID:38028226 |
|
NCBI chrNW_004936477:22,418,037...22,472,251
Ensembl chrNW_004936477:22,417,453...22,472,185
|
|
|
G |
Sema4a |
semaphorin 4A |
|
ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy 10 |
OMIM ClinVar |
PMID:16199541 PMID:22956603 PMID:23360997 PMID:24033266 PMID:25307848 PMID:25637381 PMID:25741868 PMID:26103963 PMID:28492532 PMID:28805479 PMID:32483926 PMID:32531858 More...
|
|
NCBI chrNW_004936580:5,404,380...5,431,183
Ensembl chrNW_004936580:5,406,194...5,431,185
|
|
|
G |
Rax2 |
retina and anterior neural fold homeobox 2 |
|
ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy 11 |
OMIM ClinVar |
PMID:15028672 PMID:25741868 PMID:25789692 PMID:28492532 PMID:30377383 |
|
NCBI chrNW_004936588:2,133,398...2,135,329
Ensembl chrNW_004936588:2,134,211...2,135,358
|
|
|
G |
Crlf1 |
cytokine receptor like factor 1 |
|
ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy 12 |
ClinVar |
PMID:25741868 PMID:31497877 |
|
NCBI chrNW_004936596:2,693,881...2,702,443
Ensembl chrNW_004936596:2,693,881...2,702,131
|
|
G |
Prom1 |
prominin 1 |
|
ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy 12 |
OMIM ClinVar |
PMID:9634506 PMID:10205271 PMID:12657606 PMID:12659814 PMID:15665353 PMID:16199547 PMID:17605048 PMID:18654668 PMID:19718270 PMID:20393116 PMID:20554613 PMID:20859302 PMID:22025579 PMID:22183351 PMID:22581970 PMID:23105016 PMID:23591405 PMID:24154662 PMID:24265693 PMID:24474277 PMID:24763286 PMID:24938718 PMID:25356976 PMID:25474345 PMID:25741868 PMID:25910913 PMID:25999674 PMID:26103963 PMID:26161267 PMID:26261540 PMID:26355662 PMID:26702251 PMID:27874104 PMID:28041643 PMID:28095140 PMID:28418496 PMID:28492532 PMID:28559085 PMID:29555955 PMID:29847639 PMID:30215852 PMID:30588538 PMID:30718709 PMID:31199449 PMID:32531858 PMID:32581362 PMID:32820593 PMID:33546218 PMID:34906470 PMID:35947379 PMID:36909829 More...
|
|
NCBI chrNW_004936477:11,878,261...12,017,228
Ensembl chrNW_004936477:11,878,012...12,018,177
|
|
|
G |
Chd8 |
chromodomain helicase DNA binding protein 8 |
|
ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy 13 |
ClinVar |
PMID:11528500 PMID:23105016 PMID:28492532 |
|
NCBI chrNW_004936880:546,250...608,061
Ensembl chrNW_004936880:546,236...608,080
|
|
G |
Hnrnpc |
heterogeneous nuclear ribonucleoprotein C |
|
ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy 13 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936880:368,041...425,967
|
|
G |
Mettl3 |
methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit |
|
ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy 13 |
ClinVar |
PMID:11528500 PMID:23105016 PMID:28492532 |
|
NCBI chrNW_004936880:646,835...661,312
Ensembl chrNW_004936880:644,079...661,544
|
|
G |
Rab2b |
RAB2B, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy 13 |
ClinVar |
PMID:11528500 PMID:23105016 PMID:28492532 |
|
NCBI chrNW_004936880:610,903...628,176
Ensembl chrNW_004936880:610,878...628,753
|
|
G |
Rpgrip1 |
RPGR interacting protein 1 |
|
ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy 13 |
OMIM ClinVar |
PMID:9536098 PMID:11283794 PMID:11528500 PMID:12920076 PMID:14971589 PMID:15024725 PMID:15800011 PMID:16123401 PMID:16199547 PMID:16272259 PMID:16339905 PMID:16374347 PMID:17525851 PMID:17576681 PMID:17964524 PMID:18055816 PMID:18682808 PMID:20079931 PMID:20301475 PMID:21153841 PMID:21224891 PMID:21602930 PMID:21857984 PMID:22025579 PMID:22261762 PMID:22277662 PMID:23105016 PMID:23213406 PMID:23505306 PMID:23661368 PMID:23776498 PMID:23847139 PMID:24123792 PMID:24265693 PMID:24997176 PMID:25097241 PMID:25326637 PMID:25412400 PMID:25445212 PMID:25640679 PMID:25741868 PMID:26047050 PMID:26355662 PMID:26667666 PMID:26764160 PMID:26872967 PMID:26893459 PMID:26992781 PMID:27208204 PMID:27353947 PMID:27422788 PMID:27884173 PMID:28041643 PMID:28157192 PMID:28378820 PMID:28453600 PMID:28456785 PMID:28492532 PMID:28559085 PMID:28679690 PMID:28714225 PMID:28838317 PMID:29178642 PMID:29343940 PMID:29754767 PMID:29844330 PMID:30072743 PMID:30202406 PMID:30576320 PMID:30902645 PMID:31429209 PMID:31456290 PMID:31630094 PMID:31736247 PMID:32165824 PMID:32581362 PMID:32860008 PMID:32865313 PMID:33670832 PMID:34722527 PMID:36909829 More...
|
|
NCBI chrNW_004936880:440,900...511,503
Ensembl chrNW_004936880:440,737...512,685
|
|
G |
Sall2 |
spalt like transcription factor 2 |
|
ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy 13 |
ClinVar |
PMID:11528500 PMID:23105016 PMID:28492532 |
|
NCBI chrNW_004936880:670,063...685,532
Ensembl chrNW_004936880:668,789...685,594
|
|
G |
Supt16h |
SPT16 homolog, facilitates chromatin remodeling subunit |
|
ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy 13 |
ClinVar |
PMID:11528500 PMID:23105016 PMID:28492532 |
|
NCBI chrNW_004936880:511,699...545,364
Ensembl chrNW_004936880:508,244...545,369
|
|
G |
Tox4 |
TOX high mobility group box family member 4 |
|
ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy 13 |
ClinVar |
PMID:11528500 PMID:23105016 PMID:28492532 |
|
NCBI chrNW_004936880:628,316...646,006
Ensembl chrNW_004936880:627,576...646,006
|
|
|
G |
Cacna2d4 |
calcium voltage-gated channel auxiliary subunit alpha2delta 4 |
|
ISO |
ClinVar Annotator: match by term: Cone dystrophy 3 |
ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:30718709 |
|
NCBI chrNW_004936606:2,011,454...2,118,255
Ensembl chrNW_004936606:2,012,156...2,118,167
|
|
G |
Cimip3 |
ciliary microtubule inner protein 3 |
|
ISO |
ClinVar Annotator: match by term: Cone dystrophy 3 |
ClinVar |
|
|
|
|
G |
Guca1a |
guanylate cyclase activator 1A |
|
ISO |
ClinVar Annotator: match by term: Cone dystrophy 3 |
OMIM ClinVar |
PMID:9425045 PMID:9425234 PMID:9651312 PMID:9702199 PMID:11146732 PMID:11484154 PMID:15505030 PMID:15735604 PMID:15790869 PMID:15953638 PMID:18706439 PMID:19459154 PMID:23472098 PMID:24024198 PMID:24352742 PMID:24566882 PMID:24875811 PMID:25741868 PMID:26358777 PMID:26766544 PMID:28025326 PMID:28041643 PMID:28125083 PMID:28442884 PMID:28492532 PMID:28559085 PMID:29555955 PMID:30184081 PMID:30622141 PMID:30718709 PMID:31728034 PMID:31882816 PMID:31979372 PMID:32025184 PMID:33546218 More...
|
|
NCBI chrNW_004936476:17,690,484...17,701,288
Ensembl chrNW_004936476:17,691,045...17,701,859
|
|
G |
Guca1b |
guanylate cyclase activator 1B |
|
ISO |
ClinVar Annotator: match by term: Cone dystrophy 3 |
ClinVar |
PMID:15505030 PMID:24352742 PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936476:17,679,505...17,688,970
Ensembl chrNW_004936476:17,679,500...17,691,037
|
|
G |
Kcnv2 |
potassium voltage-gated channel modifier subfamily V member 2 |
|
ISO |
ClinVar Annotator: match by term: Cone dystrophy 3 |
ClinVar |
PMID:23885164 PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936503:2,320,570...2,332,833
Ensembl chrNW_004936503:2,319,617...2,332,971
|
|
G |
Pde6h |
phosphodiesterase 6H |
|
ISO |
ClinVar Annotator: match by term: Cone dystrophy 3 |
ClinVar |
|
|
NCBI chrNW_004936587:2,505,755...2,514,103
Ensembl chrNW_004936587:2,506,585...2,514,157
|
|
G |
Rho |
rhodopsin |
|
ISO |
ClinVar Annotator: match by term: Cone dystrophy 3 |
ClinVar |
PMID:17936999 PMID:23484092 PMID:25741868 PMID:28492532 PMID:30977563 |
|
NCBI chrNW_004936602:896,730...901,480
Ensembl chrNW_004936602:894,617...901,664
|
|
|
G |
Cdhr1 |
cadherin related family member 1 |
|
ISO |
ClinVar Annotator: match by term: CDHR1-related condition | ClinVar Annotator: match by term: Cone-rod dystrophy 15 | ClinVar Annotator: match by term: Macular dystrophy, retinal, 5 | ClinVar Annotator: match by term: Retinitis pigmentosa 65 |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:20087419 PMID:20805371 PMID:23044944 PMID:23233793 PMID:23591405 PMID:24033266 PMID:24154662 PMID:25741868 PMID:26103963 PMID:26261414 PMID:26306921 PMID:26766544 PMID:27353947 PMID:27623334 PMID:28041643 PMID:28224992 PMID:28418496 PMID:28492532 PMID:28765526 PMID:28885867 PMID:29555955 PMID:29785639 PMID:30576320 PMID:30718709 PMID:30992995 PMID:31387115 PMID:32037395 PMID:32681094 PMID:33546218 PMID:33691693 PMID:33946315 PMID:34795310 PMID:34906470 PMID:34926197 PMID:35627310 More...
|
|
NCBI chrNW_004936767:805,910...829,838
Ensembl chrNW_004936767:805,558...827,712
|
|
G |
Rpe65 |
retinoid isomerohydrolase RPE65 |
|
ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy 15 |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936591:3,347,346...3,368,062
Ensembl chrNW_004936591:3,347,272...3,368,015
|
|
|
G |
Cfap418 |
cilia and flagella associated protein 418 |
|
ISO |
ClinVar Annotator: match by term: CFAP418-related condition | ClinVar Annotator: match by term: Cone-rod dystrophy 16 | ClinVar Annotator: match by term: Retinitis pigmentosa 64 |
OMIM ClinVar |
PMID:16199547 PMID:22177090 PMID:25515582 PMID:25741868 PMID:25802487 PMID:26355662 PMID:26854863 PMID:26865426 PMID:27008867 PMID:28492532 PMID:29127258 PMID:29843741 PMID:30029497 PMID:31456290 PMID:34906470 More...
|
|
NCBI chrNW_004936544:8,170,841...8,192,896
Ensembl chrNW_004936544:8,170,081...8,192,835
|
|
|
G |
Rab28 |
RAB28, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy 18 |
OMIM ClinVar |
PMID:23746546 PMID:23806086 PMID:24088041 PMID:25356532 PMID:25741868 PMID:28492532 More...
|
|
NCBI chrNW_004936477:14,066,063...14,140,310
|
|
|
G |
Ttll5 |
tubulin tyrosine ligase like 5 |
|
ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy 19 | ClinVar Annotator: match by term: TTLL5-related condition |
OMIM ClinVar |
PMID:24791901 PMID:25741868 PMID:27162334 PMID:28173158 PMID:28492532 |
|
NCBI chrNW_004936488:4,723,314...4,983,926
Ensembl chrNW_004936488:4,724,909...4,983,318
|
|
|
G |
Aipl1 |
aryl hydrocarbon receptor interacting protein like 1 |
|
ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy 2 |
ClinVar |
PMID:10615133 PMID:15249368 PMID:15347646 PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936677:1,539,502...1,548,343
Ensembl chrNW_004936677:1,538,874...1,548,010
|
|
G |
Iqcb1 |
IQ motif containing B1 |
|
ISO |
Retinal atrophy - Cone-rod dystrophy 2 |
OMIA |
PMID:15064680 PMID:22065099 PMID:24045995 PMID:27506978 PMID:30050836 PMID:33781914 PMID:34954206 PMID:38168165 PMID:38241039 More...
|
|
NCBI chrNW_004936536:8,164,120...8,213,690
Ensembl chrNW_004936536:8,163,554...8,213,708
|
|
G |
LOC101960714 |
cone-rod homeobox protein |
|
ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy 2 | ClinVar Annotator: match by term: Cone-rod retinal dystrophy 2 |
OMIM ClinVar |
PMID:1583653 PMID:9390563 PMID:9427255 PMID:9792858 PMID:10766140 PMID:10874321 PMID:10916183 PMID:11139241 PMID:11748859 PMID:11971869 PMID:15531334 PMID:16123401 PMID:17964524 PMID:18682808 PMID:20513135 PMID:22960069 PMID:22968130 PMID:23049240 PMID:24265693 PMID:25270190 PMID:25741868 PMID:26161267 PMID:26355662 PMID:26682157 PMID:28041643 PMID:28492532 PMID:28945142 PMID:29068479 PMID:29785639 PMID:30543658 PMID:30718709 PMID:31054281 PMID:31215831 PMID:31626798 PMID:31630094 PMID:32533067 PMID:33546218 PMID:33691693 PMID:36909829 More...
|
|
NCBI chrNW_004936664:1,408,618...1,419,096
Ensembl chrNW_004936664:1,409,229...1,419,234
|
|
G |
Prom1 |
prominin 1 |
|
ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy 2 | ClinVar Annotator: match by term: Cone-rod retinal dystrophy 2 |
ClinVar |
PMID:10205271 PMID:17605048 PMID:19718270 PMID:24154662 PMID:25474345 PMID:25741868 PMID:25999674 PMID:26103963 PMID:26153215 PMID:26261540 PMID:27874104 PMID:28041643 PMID:28492532 PMID:30588538 More...
|
|
NCBI chrNW_004936477:11,878,261...12,017,228
Ensembl chrNW_004936477:11,878,012...12,018,177
|
|
|
G |
Poc1b |
POC1 centriolar protein B |
|
ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy 20 |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:24945461 PMID:25018096 PMID:25044745 PMID:25741868 PMID:28492532 PMID:29220607 PMID:32244552 PMID:34065499 More...
|
|
NCBI chrNW_004936507:6,375,009...6,457,034
Ensembl chrNW_004936507:6,376,350...6,456,932
|
|
|
G |
Dram2 |
DNA damage regulated autophagy modulator 2 |
|
ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy 21 |
OMIM ClinVar |
PMID:25741868 PMID:25983245 PMID:28492532 PMID:32483926 PMID:35806404 |
|
NCBI chrNW_004936704:2,488,370...2,513,042
Ensembl chrNW_004936704:2,490,902...2,505,547
|
|
|
G |
CUNH16orf92 |
chromosome unknown C16orf92 homolog |
|
ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy 22 |
ClinVar |
PMID:33077892 |
|
NCBI chrNW_004936501:12,450,902...12,452,169
Ensembl chrNW_004936501:12,451,173...12,451,964
|
|
G |
Tlcd3b |
TLC domain containing 3B |
|
ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy 22 |
OMIM ClinVar |
PMID:33077892 |
|
NCBI chrNW_004936501:12,435,058...12,450,961
Ensembl chrNW_004936501:12,435,051...12,450,675
|
|
|
G |
Unc119 |
unc-119 lipid binding chaperone |
|
ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy 24 |
OMIM ClinVar |
PMID:11006213 PMID:25741868 PMID:26992781 PMID:28492532 PMID:35947183 |
|
NCBI chrNW_004936538:4,772,236...4,778,149
Ensembl chrNW_004936538:4,772,283...4,778,137
|
|
|
G |
Abca4 |
ATP binding cassette subfamily A member 4 |
|
ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy 3 |
OMIM ClinVar |
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:10509673 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:11673412 PMID:11687513 PMID:11702214 PMID:11726554 PMID:11919200 PMID:11973624 PMID:12037008 PMID:12192456 PMID:12515255 PMID:12592048 PMID:12796258 PMID:15108289 PMID:15161829 PMID:15192030 PMID:15516930 PMID:15579991 PMID:15614537 PMID:16103129 PMID:16123440 PMID:16199547 PMID:16303926 PMID:16400609 PMID:16533065 PMID:16546111 PMID:16682602 PMID:16703556 PMID:17277736 PMID:17296903 PMID:17325136 PMID:17576681 PMID:17724221 PMID:17982420 PMID:18024811 PMID:18285826 PMID:18414213 PMID:18652558 PMID:18854780 PMID:18977788 PMID:19074458 PMID:19217903 PMID:19265867 PMID:19365591 PMID:20029649 PMID:20128570 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:22968130 PMID:23143460 PMID:23144455 PMID:23419329 PMID:23443024 PMID:23499370 PMID:23591405 PMID:23695285 PMID:23755871 PMID:23769331 PMID:23776498 PMID:23918662 PMID:23953153 PMID:23982839 PMID:24011517 PMID:24033266 PMID:24082139 PMID:24154662 PMID:24265693 PMID:24409374 PMID:24444108 PMID:24453473 PMID:24509150 PMID:24632595 PMID:24713488 PMID:24763286 PMID:24938718 PMID:25066811 PMID:25082885 PMID:25087612 PMID:25097154 PMID:25097241 PMID:25283059 PMID:25312043 PMID:25333069 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:26047050 PMID:26092729 PMID:26103963 PMID:26161775 PMID:26247787 PMID:26261413 PMID:26355662 PMID:26527198 PMID:26593885 PMID:26743751 PMID:26780318 PMID:26872967 PMID:26976702 PMID:27032803 PMID:27535533 PMID:27583828 PMID:27596865 PMID:27775217 PMID:27939946 PMID:28041643 PMID:28044389 PMID:28118664 PMID:28130426 PMID:28181551 PMID:28224992 PMID:28327576 PMID:28355279 PMID:28446513 PMID:28492532 PMID:28559085 PMID:28947085 PMID:29068140 PMID:29114839 PMID:29162642 PMID:29178665 PMID:29186038 PMID:29310964 PMID:29343940 PMID:29422768 PMID:29461686 PMID:29555955 PMID:29847635 PMID:29847639 PMID:29847651 PMID:29854428 PMID:29925512 PMID:29971439 PMID:29975949 PMID:30060493 PMID:30093795 PMID:30337596 PMID:30480703 PMID:30576320 PMID:30670881 PMID:30718709 PMID:30820146 PMID:30834176 PMID:30902645 PMID:31129250 PMID:31212395 PMID:31318848 PMID:31456290 PMID:31522899 PMID:31576780 PMID:31766579 PMID:31964843 PMID:32141364 PMID:32235935 PMID:32278709 PMID:32307445 PMID:32483926 PMID:32531858 PMID:32619608 PMID:32783370 PMID:32821503 PMID:32845050 PMID:33090715 PMID:33223529 PMID:33375396 PMID:33546218 PMID:33841504 PMID:34008892 PMID:34214897 PMID:34874912 PMID:34906470 PMID:35886001 PMID:36460718 PMID:36672815 PMID:36909829 PMID:38054408 PMID:92952680 More...
|
|
NCBI chrNW_004936537:4,969,456...5,326,682
Ensembl chrNW_004936537:5,202,093...5,323,527
|
|
G |
Adam9 |
ADAM metallopeptidase domain 9 |
|
ISO |
Retinal atrophy - Cone-rod dystrophy 3 |
OMIA |
PMID:20691256 PMID:20806078 PMID:22065099 |
|
NCBI chrNW_004936710:2,301,470...2,388,533
Ensembl chrNW_004936710:2,301,730...2,387,695
|
|
G |
Ush2a |
usherin |
|
ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy 3 |
ClinVar |
PMID:25741868 PMID:26261414 PMID:26306921 PMID:27032803 PMID:28492532 PMID:28981474 PMID:31213501 PMID:32098976 PMID:35672425 PMID:36460718 PMID:37322672 More...
|
|
NCBI chrNW_004936628:2,123,917...2,859,958
Ensembl chrNW_004936628:2,123,957...2,858,872
|
|
|
G |
Pimreg |
PICALM interacting mitotic regulator |
|
ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy 5 |
ClinVar |
|
|
NCBI chrNW_004936677:1,531,220...1,534,208
|
|
G |
Pitpnm3 |
PITPNM family member 3 |
|
ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy 5 |
OMIM ClinVar |
PMID:8586428 PMID:17377520 PMID:22405330 PMID:25472526 PMID:25741868 PMID:27160483 PMID:28492532 PMID:30718709 PMID:32483926 More...
|
|
NCBI chrNW_004936677:1,451,974...1,528,864
Ensembl chrNW_004936677:1,430,391...1,529,484
|
|
|
G |
Alox12b |
arachidonate 12-lipoxygenase, 12R type |
|
ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy 6 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936595:1,310,556...1,321,974
Ensembl chrNW_004936595:1,310,534...1,321,985
|
|
G |
Alox15b |
arachidonate 15-lipoxygenase type B |
|
ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy 6 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936595:1,279,944...1,288,321
Ensembl chrNW_004936595:1,279,944...1,288,321
|
|
G |
Aloxe3 |
arachidonate lipoxygenase 3 |
|
ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy 6 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936595:1,329,492...1,350,914
Ensembl chrNW_004936595:1,329,435...1,350,923
|
|
G |
Best1 |
bestrophin 1 |
|
ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy 6 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936581:1,120,681...1,132,226
Ensembl chrNW_004936581:1,120,474...1,132,230
|
|
G |
Cntrob |
centrobin, centriole duplication and spindle assembly protein |
|
ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy 6 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936595:1,174,559...1,191,171
Ensembl chrNW_004936595:1,175,562...1,191,222
|
|
G |
Gucy2d |
guanylate cyclase 2D, retinal |
|
ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy 6 | ClinVar Annotator: match by term: Retinal cone dystrophy 2 |
OMIM ClinVar |
PMID:8554074 PMID:8944027 PMID:9536098 PMID:9618177 PMID:9683616 PMID:10636733 PMID:10676808 PMID:10766140 PMID:10951519 PMID:11035546 PMID:11115851 PMID:11328726 PMID:11565546 PMID:12325031 PMID:12552567 PMID:12623820 PMID:15024725 PMID:15123990 PMID:15175914 PMID:15504042 PMID:15691574 PMID:16123401 PMID:16199547 PMID:16205573 PMID:16505055 PMID:17525851 PMID:17576681 PMID:17724218 PMID:17964524 PMID:18055816 PMID:18055820 PMID:18487367 PMID:19959640 PMID:20050595 PMID:20079931 PMID:20517349 PMID:20683928 PMID:21153841 PMID:21602930 PMID:22025579 PMID:22695961 PMID:23035049 PMID:23563732 PMID:23661368 PMID:23734073 PMID:23847139 PMID:24033266 PMID:24265693 PMID:24875811 PMID:24997176 PMID:25477517 PMID:25741868 PMID:26047050 PMID:26100624 PMID:26253563 PMID:26298565 PMID:26352687 PMID:26626312 PMID:27375279 PMID:27422788 PMID:27703005 PMID:27881908 PMID:28041643 PMID:28341476 PMID:28492532 PMID:28838317 PMID:28966547 PMID:29061346 PMID:29068479 PMID:29178642 PMID:29440533 PMID:29555955 PMID:29559409 PMID:30319355 PMID:30653986 PMID:30718709 PMID:31144483 PMID:31456290 PMID:31630094 PMID:31964843 PMID:32141364 PMID:32165824 PMID:32821499 PMID:32865313 PMID:33109612 PMID:33546218 PMID:34008892 PMID:34048777 PMID:34906470 PMID:35567543 PMID:36274938 PMID:36819107 PMID:36909829 More...
|
|
NCBI chrNW_004936595:1,235,747...1,250,294
Ensembl chrNW_004936595:1,235,711...1,250,354
|
|
G |
Hes7 |
hes family bHLH transcription factor 7 |
|
ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy 6 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936595:1,352,621...1,355,177
Ensembl chrNW_004936595:1,352,621...1,356,113
|
|
G |
Kcnv2 |
potassium voltage-gated channel modifier subfamily V member 2 |
|
ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy 6 |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936503:2,320,570...2,332,833
Ensembl chrNW_004936503:2,319,617...2,332,971
|
|
|
G |
Rims1 |
regulating synaptic membrane exocytosis 1 |
|
ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy 7 |
ClinVar |
PMID:9634506 PMID:12659814 PMID:18690027 PMID:23591405 PMID:25741868 PMID:27176872 PMID:28191889 PMID:28492532 PMID:33090715 PMID:35947379 More...
|
|
NCBI chrNW_004936618:3,678,400...4,047,994
Ensembl chrNW_004936618:3,606,524...4,047,711
|
|
|
G |
Adam9 |
ADAM metallopeptidase domain 9 |
|
ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy 9 |
OMIM ClinVar |
PMID:9536098 PMID:11581183 PMID:17576681 PMID:19409519 PMID:25091951 PMID:25741868 PMID:28492532 More...
|
|
NCBI chrNW_004936710:2,301,470...2,388,533
Ensembl chrNW_004936710:2,301,730...2,387,695
|
|
|
G |
Cep78 |
centrosomal protein 78 |
|
ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy and hearing loss |
ClinVar |
PMID:25741868 PMID:27588451 PMID:27588452 PMID:27627988 PMID:28492532 |
|
NCBI chrNW_004936503:13,524,981...13,537,449
|
|
|
G |
Cep78 |
centrosomal protein 78 |
|
ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy and hearing loss 1 |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:24033266 PMID:25741868 PMID:27588451 PMID:27588452 PMID:27627988 PMID:28492532 PMID:31999394 PMID:32531858 PMID:34259627 More...
|
|
NCBI chrNW_004936503:13,524,981...13,537,449
|
|
|
G |
Cep250 |
centrosomal protein 250 |
|
ISO |
ClinVar Annotator: match by term: CEP250-related condition | ClinVar Annotator: match by term: Cone-rod dystrophy and hearing loss 2 |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:24780881 PMID:25741868 PMID:28492532 PMID:29718797 PMID:30459346 PMID:30998843 More...
|
|
NCBI chrNW_004936561:5,283,258...5,331,688
Ensembl chrNW_004936561:5,280,959...5,322,038
|
|
|
G |
Rims2 |
regulating synaptic membrane exocytosis 2 |
|
ISO |
ClinVar Annotator: match by term: Cone-rod synaptic disorder syndrome, congenital nonprogressive |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:32470375 |
|
NCBI chrNW_004936470:39,725,092...40,270,268
Ensembl chrNW_004936470:39,723,091...40,270,267
|
|
|
G |
Myo7a |
myosin VIIA |
|
ISO |
ClinVar Annotator: match by term: Cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness |
ClinVar |
PMID:9382091 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 |
|
NCBI chrNW_004936498:5,758,572...5,824,526
Ensembl chrNW_004936498:5,751,779...5,824,378
|
|
G |
Vps13b |
vacuolar protein sorting 13 homolog B |
|
ISO |
ClinVar Annotator: match by term: Cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness |
ClinVar |
PMID:25741868 PMID:26539891 PMID:28492532 |
|
NCBI chrNW_004936470:43,281,905...43,952,523
Ensembl chrNW_004936470:43,281,469...43,951,805
|
|
|
G |
Cd63 |
CD63 molecule |
|
ISO |
ClinVar Annotator: match by term: Fundus albipunctatus | ClinVar Annotator: match by term: Fundus albipunctatus, autosomal recessive | ClinVar Annotator: match by term: Pigmentary retinal dystrophy | ClinVar Annotator: match by term: Retinitis punctata albescens |
ClinVar |
PMID:10369264 PMID:10617778 PMID:11053295 PMID:11053296 PMID:11078852 PMID:11675386 PMID:15007239 PMID:15302662 PMID:15790919 PMID:17476461 PMID:18949499 PMID:20829743 PMID:21529959 PMID:22815624 PMID:25741868 PMID:25820994 PMID:28393863 PMID:28492532 PMID:29847639 PMID:32232344 PMID:32531858 PMID:36909829 More...
|
|
NCBI chrNW_004936646:196,002...199,177
Ensembl chrNW_004936646:191,128...199,777
|
|
G |
Mfrp |
membrane frizzled-related protein |
|
ISO |
OMIM:136880 |
MouseDO |
|
|
NCBI chrNW_004936542:4,272,250...4,277,231
Ensembl chrNW_004936542:4,272,264...4,277,252
|
|
G |
Prph2 |
peripherin 2 |
|
ISO |
ClinVar Annotator: match by term: Pigmentary retinal dystrophy | ClinVar Annotator: match by term: Retinitis punctata albescens, autosomal dominant |
OMIM ClinVar |
PMID:8111389 PMID:8485575 PMID:8485576 PMID:8675410 PMID:8994365 PMID:9279751 PMID:9331261 PMID:10627133 PMID:11139241 PMID:12042139 PMID:14510799 PMID:15579992 PMID:16767206 PMID:16799052 PMID:16885924 PMID:16916875 PMID:17504850 PMID:17653047 PMID:17698758 PMID:18310263 PMID:19038374 PMID:20213611 PMID:21071739 PMID:22863181 PMID:24629188 PMID:25268133 PMID:25447119 PMID:25474345 PMID:25675413 PMID:25741868 PMID:26061163 PMID:26161267 PMID:27365499 PMID:27884173 PMID:28041643 PMID:28492530 PMID:28492532 PMID:29555955 PMID:29847639 PMID:30718709 PMID:30726412 PMID:31213501 PMID:31429209 PMID:32531846 PMID:32717343 PMID:33546218 PMID:34240658 More...
|
|
NCBI chrNW_004936476:17,159,756...17,174,226
Ensembl chrNW_004936476:17,160,016...17,173,981
|
|
G |
Rdh5 |
retinol dehydrogenase 5 |
|
ISO |
ClinVar Annotator: match by term: Fundus albipunctatus | ClinVar Annotator: match by term: Fundus albipunctatus, autosomal recessive | ClinVar Annotator: match by term: Pigmentary retinal dystrophy | ClinVar Annotator: match by term: Retinitis punctata albescens |
OMIM ClinVar |
PMID:10369264 PMID:10617778 PMID:11053295 PMID:11053296 PMID:11078852 PMID:11153648 PMID:11470705 PMID:11675386 PMID:14991316 PMID:15007239 PMID:15302662 PMID:15790919 PMID:17476461 PMID:18949499 PMID:20829743 PMID:21529959 PMID:22669287 PMID:22736946 PMID:22815624 PMID:24033266 PMID:25587058 PMID:25741868 PMID:25820994 PMID:28393863 PMID:28492532 PMID:29847639 PMID:30718709 PMID:32232344 PMID:32531858 PMID:36909829 More...
|
|
NCBI chrNW_004936646:191,136...195,279
Ensembl chrNW_004936646:191,128...199,777
|
|
G |
Rho |
rhodopsin |
|
ISO |
ClinVar Annotator: match by term: Pigmentary retinal dystrophy | ClinVar Annotator: match by term: Retinitis punctata albescens |
OMIM ClinVar |
PMID:1484692 PMID:1833777 PMID:1862076 PMID:1882937 PMID:1924344 PMID:7846071 PMID:7987331 PMID:8107847 PMID:8554077 PMID:8841304 PMID:9197578 PMID:9380676 PMID:10967073 PMID:12660238 PMID:12966518 PMID:18175313 PMID:18987202 PMID:20525296 PMID:21077204 PMID:21217109 PMID:21352497 PMID:21677794 PMID:21922596 PMID:25101269 PMID:25741868 PMID:25999674 PMID:27458239 PMID:28492532 PMID:28559085 PMID:30718709 PMID:30977563 PMID:31319082 PMID:33669941 PMID:36909829 More...
|
|
NCBI chrNW_004936602:896,730...901,480
Ensembl chrNW_004936602:894,617...901,664
|
|
G |
Rlbp1 |
retinaldehyde binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Fundus albipunctatus | ClinVar Annotator: match by term: Pigmentary retinal dystrophy | ClinVar Annotator: match by term: Retinitis punctata albescens ClinVar Annotator: match by term: Pigmentary retinal dystrophy | ClinVar Annotator: match by term: Retinitis punctata albescens | ClinVar Annotator: match by term: Retinitis punctata albescens, autosomal dominant |
OMIM ClinVar |
PMID:2392416 PMID:9326942 PMID:9536098 PMID:10102298 PMID:10102299 PMID:11301032 PMID:11449319 PMID:11453974 PMID:11868161 PMID:12536144 PMID:14718298 PMID:15234312 PMID:15953459 PMID:17576681 PMID:18344446 PMID:19846785 PMID:20238024 PMID:21447491 PMID:22171637 PMID:22183382 PMID:22551409 PMID:22559933 PMID:23105016 PMID:24265693 PMID:25307992 PMID:25326637 PMID:25356976 PMID:25429852 PMID:25741868 PMID:26355662 PMID:28041643 PMID:28492532 PMID:31456290 PMID:31872526 PMID:32188692 PMID:33188265 PMID:33851411 PMID:34795310 More...
|
|
NCBI chrNW_004936483:15,086,485...15,097,980
Ensembl chrNW_004936483:15,084,756...15,096,072
|
|
|
G |
Med12 |
mediator complex subunit 12 |
|
ISO |
ClinVar Annotator: match by term: Cholestasis-pigmentary retinopathy-cleft palate syndrome | ClinVar Annotator: match by term: Hardikar syndrome |
OMIM ClinVar |
PMID:9286458 PMID:20301719 PMID:24728327 PMID:25741868 PMID:28492532 PMID:30006928 PMID:33244165 PMID:33244166 PMID:33913598 PMID:34079076 More...
|
|
NCBI chrNW_004936762:460,342...483,264
Ensembl chrNW_004936762:460,342...483,195
|
|
|
G |
Scaper |
S-phase cyclin A associated protein in the ER |
|
ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:28794130 PMID:32214227 |
|
NCBI chrNW_004936471:35,414,507...35,834,438
Ensembl chrNW_004936471:35,416,571...35,835,048
|
|
|
G |
Abcg4 |
ATP binding cassette subfamily G member 4 |
|
ISO |
ClinVar Annotator: match by term: Isolated microphthalmia 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936542:4,090,282...4,106,025
Ensembl chrNW_004936542:4,091,283...4,105,370
|
|
G |
Apoa1 |
apolipoprotein A1 |
|
ISO |
ClinVar Annotator: match by term: Isolated microphthalmia 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936542:2,111,055...2,112,626
Ensembl chrNW_004936542:2,111,052...2,112,854
|
|
G |
Apoa4 |
apolipoprotein A4 |
|
ISO |
ClinVar Annotator: match by term: Isolated microphthalmia 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936542:2,098,683...2,101,127
Ensembl chrNW_004936542:2,098,683...2,101,127
|
|
G |
Apoc3 |
apolipoprotein C3 |
|
ISO |
ClinVar Annotator: match by term: Isolated microphthalmia 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936542:2,106,927...2,108,412
Ensembl chrNW_004936542:2,106,318...2,108,603
|
|
G |
Arcn1 |
archain 1 |
|
ISO |
ClinVar Annotator: match by term: Isolated microphthalmia 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936542:3,605,553...3,634,889
Ensembl chrNW_004936542:3,617,051...3,633,132
|
|
G |
Arhgef12 |
Rho guanine nucleotide exchange factor 12 |
|
ISO |
ClinVar Annotator: match by term: Isolated microphthalmia 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936542:5,197,100...5,335,338
Ensembl chrNW_004936542:5,262,217...5,331,426
|
|
G |
Atp5mg |
ATP synthase membrane subunit g |
|
ISO |
ClinVar Annotator: match by term: Isolated microphthalmia 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936542:3,453,287...3,461,125
|
|
G |
Bace1 |
beta-secretase 1 |
|
ISO |
ClinVar Annotator: match by term: Isolated microphthalmia 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936542:2,514,297...2,539,088
Ensembl chrNW_004936542:2,514,300...2,539,135
|
|
G |
Bcl9l |
BCL9 like |
|
ISO |
ClinVar Annotator: match by term: Isolated microphthalmia 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936542:3,873,530...3,902,871
Ensembl chrNW_004936542:3,875,801...3,886,824
|
|
G |
C1qtnf5 |
C1q and TNF related 5 |
|
ISO |
ClinVar Annotator: match by term: Isolated microphthalmia 5 | ClinVar Annotator: match by term: Posterior Microphthalmia with Retinitis Pigmentosa, Foveoschisis, and Optic Disc Drusen |
ClinVar |
PMID:1258954 PMID:9536098 PMID:12140190 PMID:15976030 PMID:16199547 PMID:17167404 PMID:17576681 PMID:18554571 PMID:18648522 PMID:19169412 PMID:19753314 PMID:20361016 PMID:21670352 PMID:22142163 PMID:22605927 PMID:22892318 PMID:23112574 PMID:23127749 PMID:23143909 PMID:23742260 PMID:24088041 PMID:24531000 PMID:25097241 PMID:25412400 PMID:25741868 PMID:26583794 PMID:26633545 PMID:28041643 PMID:28224992 PMID:28492532 PMID:29170418 PMID:29450879 PMID:30181649 PMID:30653986 PMID:31106028 PMID:31992737 PMID:32052405 PMID:32118495 PMID:32703043 PMID:32830442 PMID:32996714 PMID:33203948 More...
|
|
NCBI chrNW_004936542:4,269,636...4,271,497
Ensembl chrNW_004936542:4,269,636...4,271,610
|
|
G |
C2cd2l |
C2CD2 like |
|
ISO |
ClinVar Annotator: match by term: Isolated microphthalmia 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936542:4,058,945...4,068,187
|
|
G |
Cbl |
Cbl proto-oncogene |
|
ISO |
ClinVar Annotator: match by term: Isolated microphthalmia 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936542:4,136,389...4,235,746
Ensembl chrNW_004936542:4,136,511...4,228,288
|
|
G |
Cd3d |
CD3d molecule |
|
ISO |
ClinVar Annotator: match by term: Isolated microphthalmia 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936542:3,400,129...3,403,628
Ensembl chrNW_004936542:3,399,845...3,403,634
|
|
G |
Cd3e |
CD3e molecule |
|
ISO |
ClinVar Annotator: match by term: Isolated microphthalmia 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936542:3,379,361...3,390,677
|
|
G |
Cd3g |
CD3g molecule |
|
ISO |
ClinVar Annotator: match by term: Isolated microphthalmia 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936542:3,405,084...3,412,104
|
|
G |
Cenatac |
centrosomal AT-AC splicing factor |
|
ISO |
ClinVar Annotator: match by term: Isolated microphthalmia 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936542:3,965,259...3,974,736
Ensembl chrNW_004936542:3,965,256...3,974,739
|
|
G |
Cep164 |
centrosomal protein 164 |
|
ISO |
ClinVar Annotator: match by term: Isolated microphthalmia 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936542:2,544,677...2,609,753
Ensembl chrNW_004936542:2,544,665...2,609,792
|
|
G |
Cxcr5 |
C-X-C motif chemokine receptor 5 |
|
ISO |
ClinVar Annotator: match by term: Isolated microphthalmia 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936542:3,860,536...3,872,528
Ensembl chrNW_004936542:3,860,536...3,872,116
|
|
G |
Ddx6 |
DEAD-box helicase 6 |
|
ISO |
ClinVar Annotator: match by term: Isolated microphthalmia 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936542:3,748,599...3,781,405
Ensembl chrNW_004936542:3,748,575...3,780,692
|
|
G |
Dpagt1 |
dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Isolated microphthalmia 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936542:4,049,107...4,054,100
Ensembl chrNW_004936542:4,048,979...4,054,105
|
|
G |
Drc12 |
dynein regulatory complex subunit 12 homolog |
|
ISO |
ClinVar Annotator: match by term: Isolated microphthalmia 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936542:4,127,054...4,131,148
Ensembl chrNW_004936542:4,126,890...4,131,179
|
|
G |
Dscaml1 |
DS cell adhesion molecule like 1 |
|
ISO |
ClinVar Annotator: match by term: Isolated microphthalmia 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936542:2,619,910...2,939,578
Ensembl chrNW_004936542:2,620,469...2,939,578
|
|
G |
Foxr1 |
forkhead box R1 |
|
ISO |
ClinVar Annotator: match by term: Isolated microphthalmia 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936542:3,943,174...3,951,473
Ensembl chrNW_004936542:3,943,174...3,951,473
|
|
G |
Fxyd2 |
FXYD domain containing ion transport regulator 2 |
|
ISO |
ClinVar Annotator: match by term: Isolated microphthalmia 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936542:2,956,784...2,961,076
Ensembl chrNW_004936542:2,956,785...2,963,506
|
|
G |
Fxyd6 |
FXYD domain containing ion transport regulator 6 |
|
ISO |
ClinVar Annotator: match by term: Isolated microphthalmia 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936542:2,974,968...3,005,778
Ensembl chrNW_004936542:2,974,971...3,006,011
|
|
G |
Grik4 |
glutamate ionotropic receptor kainate type subunit 4 |
|
ISO |
ClinVar Annotator: match by term: Isolated microphthalmia 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936542:5,600,517...5,764,042
Ensembl chrNW_004936542:5,599,785...5,763,616
|
|
G |
Hinfp |
histone H4 transcription factor |
|
ISO |
ClinVar Annotator: match by term: Isolated microphthalmia 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936542:4,072,771...4,083,973
Ensembl chrNW_004936542:4,072,624...4,084,064
|
|
G |
Hmbs |
hydroxymethylbilane synthase |
|
ISO |
ClinVar Annotator: match by term: Isolated microphthalmia 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936542:4,037,888...4,046,089
Ensembl chrNW_004936542:4,037,201...4,050,810
|
|
G |
Hyou1 |
hypoxia up-regulated 1 |
|
ISO |
ClinVar Annotator: match by term: Isolated microphthalmia 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936542:4,005,616...4,018,135
Ensembl chrNW_004936542:4,005,610...4,018,135
|
|
G |
Ift46 |
intraflagellar transport 46 |
|
ISO |
ClinVar Annotator: match by term: Isolated microphthalmia 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936542:3,577,387...3,597,954
Ensembl chrNW_004936542:3,577,580...3,597,859
|
|
G |
Il10ra |
interleukin 10 receptor subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Isolated microphthalmia 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936542:3,099,484...3,113,159
Ensembl chrNW_004936542:3,099,430...3,113,210
|
|
G |
Jaml |
junction adhesion molecule like |
|
ISO |
ClinVar Annotator: match by term: Isolated microphthalmia 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936542:3,284,445...3,312,190
|
|
G |
Kmt2a |
lysine methyltransferase 2A |
|
ISO |
ClinVar Annotator: match by term: Isolated microphthalmia 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936542:3,480,071...3,566,823
Ensembl chrNW_004936542:3,391,774...3,562,147
|
|
G |
LOC101966907 |
histone H2AX |
|
ISO |
ClinVar Annotator: match by term: Isolated microphthalmia 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936542:4,046,930...4,049,017
Ensembl chrNW_004936542:4,047,915...4,048,346
|
|
G |
LOC101975324 |
tubulin-specific chaperone cofactor E-like protein |
|
ISO |
ClinVar Annotator: match by term: Isolated microphthalmia 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936542:5,884,624...5,951,260
Ensembl chrNW_004936542:5,884,624...5,951,260 Ensembl chrNW_004936542:5,884,624...5,951,260
|
|
G |
Mcam |
melanoma cell adhesion molecule |
|
ISO |
ClinVar Annotator: match by term: Isolated microphthalmia 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936542:4,235,914...4,244,981
Ensembl chrNW_004936542:4,237,010...4,244,462
|
|
G |
Mfrp |
membrane frizzled-related protein |
|
ISO |
ClinVar Annotator: match by term: Isolated microphthalmia 5 | ClinVar Annotator: match by term: Posterior Microphthalmia with Retinitis Pigmentosa, Foveoschisis, and Optic Disc Drusen |
OMIM ClinVar |
PMID:1258954 PMID:9536098 PMID:12140190 PMID:15976030 PMID:16199547 PMID:17167404 PMID:17576681 PMID:18554571 PMID:18648522 PMID:19169412 PMID:19753314 PMID:20361016 PMID:21670352 PMID:22142163 PMID:22605927 PMID:22892318 PMID:23112574 PMID:23127749 PMID:23143909 PMID:23742260 PMID:24088041 PMID:24531000 PMID:25097241 PMID:25412400 PMID:25741868 PMID:26583794 PMID:26633545 PMID:28041643 PMID:28224992 PMID:28492532 PMID:29170418 PMID:29450879 PMID:30181649 PMID:30653986 PMID:31106028 PMID:31992737 PMID:32052405 PMID:32118495 PMID:32703043 PMID:32830442 PMID:32996714 PMID:33203948 More...
|
|
NCBI chrNW_004936542:4,272,250...4,277,231
Ensembl chrNW_004936542:4,272,264...4,277,252
|
|
G |
Mpzl2 |
myelin protein zero like 2 |
|
ISO |
ClinVar Annotator: match by term: Isolated microphthalmia 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936542:3,332,822...3,344,663
Ensembl chrNW_004936542:3,333,830...3,343,852
|
|
G |
Mpzl3 |
myelin protein zero like 3 |
|
ISO |
ClinVar Annotator: match by term: Isolated microphthalmia 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936542:3,314,921...3,332,785
Ensembl chrNW_004936542:3,313,417...3,331,792
|
|
G |
Nectin1 |
nectin cell adhesion molecule 1 |
|
ISO |
ClinVar Annotator: match by term: Isolated microphthalmia 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936542:4,501,081...4,602,338
Ensembl chrNW_004936542:4,539,931...4,602,344
|
|
G |
Nherf4 |
NHERF family PDZ scaffold protein 4 |
|
ISO |
ClinVar Annotator: match by term: Isolated microphthalmia 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936542:4,121,275...4,126,611
|
|
G |
Nlrx1 |
NLR family member X1 |
|
ISO |
ClinVar Annotator: match by term: Isolated microphthalmia 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936542:4,105,980...4,121,176
Ensembl chrNW_004936542:4,109,136...4,122,978
|
|
G |
Oaf |
out at first homolog |
|
ISO |
ClinVar Annotator: match by term: Isolated microphthalmia 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936542:5,070,995...5,087,676
Ensembl chrNW_004936542:5,070,468...5,091,298
|
|
G |
Pafah1b2 |
platelet activating factor acetylhydrolase 1b catalytic subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Isolated microphthalmia 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936542:2,390,904...2,417,596
Ensembl chrNW_004936542:2,390,513...2,414,882
|
|
G |
Pcsk7 |
proprotein convertase subtilisin/kexin type 7 |
|
ISO |
ClinVar Annotator: match by term: Isolated microphthalmia 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936542:2,450,830...2,478,740
Ensembl chrNW_004936542:2,452,359...2,476,126
|
|
G |
Phldb1 |
pleckstrin homology like domain family B member 1 |
|
ISO |
ClinVar Annotator: match by term: Isolated microphthalmia 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936542:3,639,992...3,688,000
Ensembl chrNW_004936542:3,639,982...3,688,450
|
|
G |
Pou2f3 |
POU class 2 homeobox 3 |
|
ISO |
ClinVar Annotator: match by term: Isolated microphthalmia 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936542:5,097,837...5,177,968
Ensembl chrNW_004936542:5,104,169...5,177,839
|
|
G |
Rnf214 |
ring finger protein 214 |
|
ISO |
ClinVar Annotator: match by term: Isolated microphthalmia 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936542:2,479,109...2,512,964
Ensembl chrNW_004936542:2,480,127...2,512,161
|
|
G |
Rnf26 |
ring finger protein 26 |
|
ISO |
ClinVar Annotator: match by term: Isolated microphthalmia 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936542:4,265,226...4,268,037
|
|
G |
Rps25 |
ribosomal protein S25 |
|
ISO |
ClinVar Annotator: match by term: Isolated microphthalmia 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936542:3,974,796...3,977,155
Ensembl chrNW_004936542:3,974,804...3,976,816
|
|
G |
Sc5d |
sterol-C5-desaturase |
|
ISO |
ClinVar Annotator: match by term: Isolated microphthalmia 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936542:6,046,425...6,062,825
Ensembl chrNW_004936542:6,046,390...6,059,074
|
|
G |
Scn2b |
sodium voltage-gated channel beta subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Isolated microphthalmia 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936542:3,262,161...3,274,545
Ensembl chrNW_004936542:3,261,533...3,274,623
|
|
G |
Scn4b |
sodium voltage-gated channel beta subunit 4 |
|
ISO |
ClinVar Annotator: match by term: Isolated microphthalmia 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936542:3,236,238...3,252,550
Ensembl chrNW_004936542:3,236,231...3,252,692
|
|
G |
Sidt2 |
SID1 transmembrane family member 2 |
|
ISO |
ClinVar Annotator: match by term: Isolated microphthalmia 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936542:2,426,937...2,443,721
Ensembl chrNW_004936542:2,426,937...2,443,721
|
|
G |
Sik3 |
SIK family kinase 3 |
|
ISO |
ClinVar Annotator: match by term: Isolated microphthalmia 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936542:2,119,423...2,357,533
Ensembl chrNW_004936542:2,117,349...2,357,539
|
|
G |
Slc37a4 |
solute carrier family 37 member 4 |
|
ISO |
ClinVar Annotator: match by term: Isolated microphthalmia 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936542:3,980,538...3,987,039
Ensembl chrNW_004936542:3,980,236...3,987,066
|
|
G |
Sorl1 |
sortilin related receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Isolated microphthalmia 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936542:6,192,407...6,352,835
Ensembl chrNW_004936542:6,192,407...6,352,424
|
|
G |
Tagln |
transgelin |
|
ISO |
ClinVar Annotator: match by term: Isolated microphthalmia 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936542:2,445,825...2,451,216
Ensembl chrNW_004936542:2,445,659...2,451,216
|
|
G |
Thy1 |
Thy-1 cell surface antigen |
|
ISO |
ClinVar Annotator: match by term: Isolated microphthalmia 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936542:4,323,905...4,329,940
Ensembl chrNW_004936542:4,323,408...4,330,077
|
|
G |
Tlcd5 |
TLC domain containing 5 |
|
ISO |
ClinVar Annotator: match by term: Isolated microphthalmia 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936542:5,186,445...5,192,015
Ensembl chrNW_004936542:5,186,226...5,194,119
|
|
G |
Tmem25 |
transmembrane protein 25 |
|
ISO |
ClinVar Annotator: match by term: Isolated microphthalmia 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936542:3,569,735...3,575,987
Ensembl chrNW_004936542:3,571,460...3,579,462
|
|
G |
Tmprss13 |
transmembrane serine protease 13 |
|
ISO |
ClinVar Annotator: match by term: Isolated microphthalmia 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936542:3,029,758...3,047,699
Ensembl chrNW_004936542:3,029,758...3,052,345
|
|
G |
Tmprss4 |
transmembrane serine protease 4 |
|
ISO |
ClinVar Annotator: match by term: Isolated microphthalmia 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936542:3,180,260...3,216,208
Ensembl chrNW_004936542:3,204,303...3,215,167
|
|
G |
Trappc4 |
trafficking protein particle complex subunit 4 |
|
ISO |
ClinVar Annotator: match by term: Isolated microphthalmia 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936542:3,977,223...3,980,168
Ensembl chrNW_004936542:3,977,358...3,979,906
|
|
G |
Treh |
trehalase |
|
ISO |
ClinVar Annotator: match by term: Isolated microphthalmia 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936542:3,688,086...3,702,067
Ensembl chrNW_004936542:3,688,247...3,702,033
|
|
G |
Trim29 |
tripartite motif containing 29 |
|
ISO |
ClinVar Annotator: match by term: Isolated microphthalmia 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936542:4,967,831...4,999,644
Ensembl chrNW_004936542:4,967,784...4,994,369
|
|
G |
Ttc36 |
tetratricopeptide repeat domain 36 |
|
ISO |
ClinVar Annotator: match by term: Isolated microphthalmia 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936542:3,567,469...3,571,393
Ensembl chrNW_004936542:3,566,876...3,571,504
|
|
G |
Upk2 |
uroplakin 2 |
|
ISO |
ClinVar Annotator: match by term: Isolated microphthalmia 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936542:3,929,555...3,931,754
Ensembl chrNW_004936542:3,929,535...3,931,769
|
|
G |
Usp2 |
ubiquitin specific peptidase 2 |
|
ISO |
ClinVar Annotator: match by term: Isolated microphthalmia 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936542:4,284,243...4,310,545
Ensembl chrNW_004936542:4,285,819...4,307,925
|
|
G |
Vps11 |
VPS11 core subunit of CORVET and HOPS complexes |
|
ISO |
ClinVar Annotator: match by term: Isolated microphthalmia 5 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936542:4,022,928...4,035,577
Ensembl chrNW_004936542:4,023,134...4,035,260
|
|
|
G |
Cnnm4 |
cyclin and CBS domain divalent metal cation transport mediator 4 |
|
ISO |
ClinVar Annotator: match by term: Jalili syndrome |
OMIM ClinVar |
PMID:3236352 PMID:9536098 PMID:15173235 PMID:17576681 PMID:19200525 PMID:19200527 PMID:25741868 PMID:28492532 PMID:30718709 PMID:34906470 More...
|
|
NCBI chrNW_004936744:715,523...754,148
Ensembl chrNW_004936744:714,721...771,835
|
|
|
G |
Il1a |
interleukin 1 alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7979221 |
|
NCBI chrNW_004936783:1,210,715...1,218,315
Ensembl chrNW_004936783:1,210,809...1,218,315
|
|
G |
Il1b |
interleukin 1 beta |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7979221 |
|
NCBI chrNW_004936783:1,251,678...1,256,807
Ensembl chrNW_004936783:1,252,158...1,257,165
|
|
G |
Ppargc1a |
PPARG coactivator 1 alpha |
|
ISO |
|
RGD |
PMID:23406886 |
RGD:7241824 |
NCBI chrNW_004936477:4,881,230...5,488,208
Ensembl chrNW_004936477:5,199,881...5,488,226
|
|
G |
Tfam |
transcription factor A, mitochondrial |
|
ISO |
OMIM:530000 |
MouseDO |
|
|
NCBI chrNW_004936614:4,595,973...4,605,040
Ensembl chrNW_004936614:4,596,617...4,605,104
|
|
|
G |
Abca4 |
ATP binding cassette subfamily A member 4 |
|
ISO |
ClinVar Annotator: match by term: Leber congenital amaurosis 14 |
ClinVar |
PMID:9973280 PMID:10958761 PMID:16546111 PMID:24938718 PMID:25312043 PMID:25544989 PMID:25741868 PMID:26780318 PMID:28041643 PMID:28492532 PMID:28947085 PMID:30718709 PMID:33546218 PMID:36909829 More...
|
|
NCBI chrNW_004936537:4,969,456...5,326,682
Ensembl chrNW_004936537:5,202,093...5,323,527
|
|
G |
Lrat |
lecithin retinol acyltransferase |
|
ISO |
ClinVar Annotator: match by term: LRAT-related condition | ClinVar Annotator: match by term: Leber congenital amaurosis 14 | ClinVar Annotator: match by term: RETINAL DYSTROPHY, EARLY-ONSET SEVERE, LRAT-RELATED | ClinVar Annotator: match by term: RETINITIS PIGMENTOSA, JUVENILE, LRAT-RELATED |
OMIM ClinVar |
PMID:11381255 PMID:17011878 PMID:18055821 PMID:22025579 PMID:22559933 PMID:22570351 PMID:24265693 PMID:25741868 PMID:26656277 PMID:28492532 PMID:29186038 PMID:32865313 More...
|
|
NCBI chrNW_004936576:1,491,480...1,498,568
Ensembl chrNW_004936576:1,492,297...1,501,917
|
|
|
G |
Eml5 |
EMAP like 5 |
|
ISO |
ClinVar Annotator: match by term: Leber congenital amaurosis 3 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936488:16,061,132...16,240,182
Ensembl chrNW_004936488:16,062,766...16,240,188
|
|
G |
Galc |
galactosylceramidase |
|
ISO |
ClinVar Annotator: match by term: Leber congenital amaurosis 3 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936488:15,444,184...15,519,395
Ensembl chrNW_004936488:15,444,801...15,518,856
|
|
G |
Gpr65 |
G protein-coupled receptor 65 |
|
ISO |
ClinVar Annotator: match by term: Leber congenital amaurosis 3 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936488:15,544,075...15,545,344
Ensembl chrNW_004936488:15,544,149...15,545,156
|
|
G |
Kcnk10 |
potassium two pore domain channel subfamily K member 10 |
|
ISO |
ClinVar Annotator: match by term: Leber congenital amaurosis 3 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936488:15,698,137...15,773,582
Ensembl chrNW_004936488:15,698,143...15,827,661
|
|
G |
Ptpn21 |
protein tyrosine phosphatase non-receptor type 21 |
|
ISO |
ClinVar Annotator: match by term: Leber congenital amaurosis 3 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936488:15,922,624...15,996,997
Ensembl chrNW_004936488:15,923,833...15,995,142
|
|
G |
Spata7 |
spermatogenesis associated 7 |
|
ISO |
ClinVar Annotator: match by term: Leber congenital amaurosis 3 | ClinVar Annotator: match by term: Retinitis pigmentosa 94, variable age at onset |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19268277 PMID:20104588 PMID:20301475 PMID:21310915 PMID:21602930 PMID:22136677 PMID:22334370 PMID:23847139 PMID:24033266 PMID:24265693 PMID:24938718 PMID:25133751 PMID:25412400 PMID:25741868 PMID:26047050 PMID:26261414 PMID:26306921 PMID:26355662 PMID:26854980 PMID:27208204 PMID:28481129 PMID:28492532 PMID:28714225 PMID:29186038 PMID:29411205 PMID:30054919 PMID:31908400 PMID:32865313 PMID:36909829 More...
|
|
NCBI chrNW_004936488:15,878,167...15,911,301
Ensembl chrNW_004936488:15,878,158...15,911,415
|
|
G |
Ttc8 |
tetratricopeptide repeat domain 8 |
|
ISO |
ClinVar Annotator: match by term: Leber congenital amaurosis 3 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936488:16,258,247...16,306,077
Ensembl chrNW_004936488:16,258,058...16,306,589
|
|
G |
Zc3h14 |
zinc finger CCCH-type containing 14 |
|
ISO |
ClinVar Annotator: match by term: Leber congenital amaurosis 3 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936488:16,009,081...16,058,642
Ensembl chrNW_004936488:16,009,123...16,059,997
|
|
|
G |
Mfsd8 |
major facilitator superfamily domain containing 8 |
|
ISO |
ClinVar Annotator: match by term: Macular dystrophy with central cone involvement |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17564970 PMID:17576681 PMID:19177532 PMID:19201763 PMID:21990111 PMID:25227500 PMID:25333361 PMID:25439737 PMID:25741868 PMID:26681805 PMID:28041643 PMID:28224992 PMID:28492532 PMID:28586915 PMID:31006324 PMID:31597037 PMID:32037395 PMID:32581362 PMID:33546218 PMID:35457110 More...
|
|
NCBI chrNW_004936642:2,745,889...2,833,286
Ensembl chrNW_004936642:2,801,908...2,832,830
|
|
|
G |
Cwc27 |
CWC27 spliceosome associated cyclophilin |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa with or without skeletal anomalies |
OMIM ClinVar |
PMID:9536098 PMID:10420199 PMID:17576681 PMID:25741868 PMID:28285769 PMID:28492532 More...
|
|
NCBI chrNW_004936480:4,090,005...4,305,770
Ensembl chrNW_004936480:4,090,005...4,305,632
|
|
|
G |
Arl2 |
ADP ribosylation factor like GTPase 2 |
|
ISO |
ClinVar Annotator: match by term: Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1 |
OMIM ClinVar |
PMID:30945270 |
|
NCBI chrNW_004936599:4,336,190...4,343,007
Ensembl chrNW_004936599:4,336,079...4,343,061
|
|
|
G |
Pigt |
phosphatidylinositol glycan anchor biosynthesis class T |
|
ISO |
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 7 | ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 3 | ClinVar Annotator: match by term: PIGT-related disorder |
OMIM ClinVar |
PMID:9536098 PMID:9934988 PMID:16199547 PMID:17576681 PMID:23636107 PMID:24906948 PMID:25741868 PMID:25943031 PMID:27916860 PMID:28327575 PMID:28492532 PMID:28728837 PMID:29868109 PMID:30049826 PMID:30813157 PMID:30976099 PMID:31130284 PMID:32220244 PMID:32404165 PMID:32581362 PMID:32725661 PMID:34046058 PMID:36177944 More...
|
|
NCBI chrNW_004936514:7,471,134...7,481,183
Ensembl chrNW_004936514:7,470,922...7,481,199
|
|
|
G |
Ppp2r3c |
protein phosphatase 2 regulatory subunit B''gamma |
|
ISO |
ClinVar Annotator: match by term: BROSNAN-KENNERKNECHT-GURAN-KOC SYNDROME | ClinVar Annotator: match by term: Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy |
OMIM ClinVar |
PMID:8849014 PMID:25741868 PMID:30893644 PMID:34714774 PMID:34750818 PMID:35812758 More...
|
|
NCBI chrNW_004936494:9,247,600...9,283,019
Ensembl chrNW_004936494:9,244,588...9,283,019
|
|
G |
Prorp |
protein only RNase P catalytic subunit |
|
ISO |
ClinVar Annotator: match by term: BROSNAN-KENNERKNECHT-GURAN-KOC SYNDROME |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936494:9,282,894...9,414,350
|
|
|
G |
Rlbp1 |
retinaldehyde binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Newfoundland cone-rod dystrophy |
OMIM ClinVar |
PMID:2392416 PMID:9536098 PMID:10102298 PMID:10102299 PMID:11301032 PMID:11449319 PMID:11868161 PMID:15953459 PMID:16199547 PMID:17576681 PMID:21447491 PMID:22171637 PMID:23929416 PMID:24265693 PMID:25356976 PMID:25429852 PMID:25741868 PMID:28492532 PMID:28559085 PMID:31872526 PMID:32188692 PMID:34410188 PMID:34795310 More...
|
|
NCBI chrNW_004936483:15,086,485...15,097,980
Ensembl chrNW_004936483:15,084,756...15,096,072
|
|
|
G |
Pnpla6 |
patatin like phospholipase domain containing 6 |
|
ISO |
ClinVar Annotator: match by term: Trichomegaly-retina pigmentary degeneration-dwarfism syndrome |
OMIM ClinVar |
PMID:3963113 PMID:8053762 PMID:18313024 PMID:20603202 PMID:23733235 PMID:24355708 PMID:25299038 PMID:25480986 PMID:25574898 PMID:25741868 PMID:26467025 PMID:28492532 PMID:31135245 PMID:31780887 More...
|
|
NCBI chrNW_004936588:4,608,856...4,632,198
Ensembl chrNW_004936588:4,608,963...4,632,183
|
|
|
G |
Ctnna1 |
catenin alpha 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26691986 |
|
NCBI chrNW_004936531:7,865,907...8,036,020
Ensembl chrNW_004936531:7,865,820...8,037,935
|
|
G |
Htra1 |
HtrA serine peptidase 1 |
susceptibility |
ISO |
DNA:snp:promoter:g.-625G>A (rs11200638) (human) |
RGD |
PMID:22893068 |
RGD:7394745 |
NCBI chrNW_004936486:11,271,130...11,317,271
Ensembl chrNW_004936486:11,271,130...11,316,739
|
|
G |
Mapkapk3 |
MAPK activated protein kinase 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
|
NCBI chrNW_004936529:2,130,421...2,159,859
Ensembl chrNW_004936529:2,130,252...2,160,313
|
|
G |
Prph2 |
peripherin 2 |
|
ISO |
ClinVar Annotator: match by term: Butterfly-shaped pigment dystrophy of the fovea |
ClinVar |
PMID:1427912 PMID:1684223 PMID:7493155 PMID:7825692 PMID:7880786 PMID:8015786 PMID:8045710 PMID:8111389 PMID:8202715 PMID:8302543 PMID:8485574 PMID:8485575 PMID:8485576 PMID:8644804 PMID:8675410 PMID:8747448 PMID:8943002 PMID:8994365 PMID:9010868 PMID:9279751 PMID:9331261 PMID:9338584 PMID:9443872 PMID:9536098 PMID:10193525 PMID:10532447 PMID:10627133 PMID:10800708 PMID:11139241 PMID:11139263 PMID:11297544 PMID:11427722 PMID:11704030 PMID:11801511 PMID:11934323 PMID:12042139 PMID:12925772 PMID:14510799 PMID:14557183 PMID:15370544 PMID:15779916 PMID:16019073 PMID:16024869 PMID:16113362 PMID:16767206 PMID:16799052 PMID:16885924 PMID:16916875 PMID:17504850 PMID:17576681 PMID:17653047 PMID:17698758 PMID:18050133 PMID:18310263 PMID:19038374 PMID:19243827 PMID:19262438 PMID:20213611 PMID:20640437 PMID:21071739 PMID:22003107 PMID:22183351 PMID:22334370 PMID:22466463 PMID:22863181 PMID:23105016 PMID:23591405 PMID:23847139 PMID:23950152 PMID:24463884 PMID:24608669 PMID:24629188 PMID:25001182 PMID:25082885 PMID:25097241 PMID:25268133 PMID:25324289 PMID:25412400 PMID:25447119 PMID:25474345 PMID:25675413 PMID:25741868 PMID:25803555 PMID:25999674 PMID:26061163 PMID:26103963 PMID:26161267 PMID:26355662 PMID:26667666 PMID:26720483 PMID:26796962 PMID:26842753 PMID:27365499 PMID:27813578 PMID:27884173 PMID:28041643 PMID:28076437 PMID:28224992 PMID:28492530 PMID:28492532 PMID:28559085 PMID:28838317 PMID:29155698 PMID:29186038 PMID:29343940 PMID:29555955 PMID:29847639 PMID:30215852 PMID:30718709 PMID:30726412 PMID:30926958 PMID:31063015 PMID:31213501 PMID:31429209 PMID:31456290 PMID:31574917 PMID:32531846 PMID:32660024 PMID:32717343 PMID:33546218 PMID:34240658 PMID:34906036 PMID:34906470 More...
|
|
NCBI chrNW_004936476:17,159,756...17,174,226
Ensembl chrNW_004936476:17,160,016...17,173,981
|
|
|
G |
Prph2 |
peripherin 2 |
|
ISO |
ClinVar Annotator: match by term: Patterned macular dystrophy 1 |
OMIM ClinVar |
PMID:1427912 PMID:1684223 PMID:7493155 PMID:7710395 PMID:7825692 PMID:7880786 PMID:8004111 PMID:8015786 PMID:8045710 PMID:8111389 PMID:8202715 PMID:8251014 PMID:8302543 PMID:8485574 PMID:8485575 PMID:8485576 PMID:8644804 PMID:8675410 PMID:8747448 PMID:8943002 PMID:8994365 PMID:9010868 PMID:9279751 PMID:9331261 PMID:9338584 PMID:9443872 PMID:9536098 PMID:10193525 PMID:10532447 PMID:10627133 PMID:10800708 PMID:11139241 PMID:11139263 PMID:11297544 PMID:11427722 PMID:11704030 PMID:11801511 PMID:11934323 PMID:12042139 PMID:12925772 PMID:14510799 PMID:14557183 PMID:15370544 PMID:15779916 PMID:16019073 PMID:16024869 PMID:16113362 PMID:16767206 PMID:16799052 PMID:16885924 PMID:16916875 PMID:17504850 PMID:17576681 PMID:17653047 PMID:17698758 PMID:18050133 PMID:18310263 PMID:19038374 PMID:19243827 PMID:19262438 PMID:20213611 PMID:20640437 PMID:21071739 PMID:22003107 PMID:22183351 PMID:22334370 PMID:22466463 PMID:22863181 PMID:23105016 PMID:23591405 PMID:23847139 PMID:23950152 PMID:24463884 PMID:24608669 PMID:24629188 PMID:25001182 PMID:25082885 PMID:25097241 PMID:25268133 PMID:25324289 PMID:25412400 PMID:25447119 PMID:25474345 PMID:25675413 PMID:25741868 PMID:25803555 PMID:25999674 PMID:26061163 PMID:26103963 PMID:26161267 PMID:26355662 PMID:26667666 PMID:26720483 PMID:26796962 PMID:26842753 PMID:27365499 PMID:27813578 PMID:27884173 PMID:28041643 PMID:28076437 PMID:28224992 PMID:28492530 PMID:28492532 PMID:28559085 PMID:28838317 PMID:29155698 PMID:29186038 PMID:29343940 PMID:29555955 PMID:29847639 PMID:30215852 PMID:30718709 PMID:30726412 PMID:30926958 PMID:31063015 PMID:31213501 PMID:31429209 PMID:31456290 PMID:31574917 PMID:32531846 PMID:32660024 PMID:32717343 PMID:33546218 PMID:34240658 PMID:34906036 PMID:34906470 PMID:34906502 More...
|
|
NCBI chrNW_004936476:17,159,756...17,174,226
Ensembl chrNW_004936476:17,160,016...17,173,981
|
|
|
G |
Ctnna1 |
catenin alpha 1 |
|
ISO |
ClinVar Annotator: match by term: Patterned macular dystrophy 2 |
OMIM ClinVar |
PMID:5442145 PMID:9536098 PMID:17576681 PMID:25741868 PMID:26691986 PMID:26845104 PMID:27153395 PMID:28041643 PMID:28492532 PMID:32051609 PMID:33137351 PMID:33435129 PMID:34326862 More...
|
|
NCBI chrNW_004936531:7,865,907...8,036,020
Ensembl chrNW_004936531:7,865,820...8,037,935
|
|
|
G |
Mapkapk3 |
MAPK activated protein kinase 3 |
|
ISO |
ClinVar Annotator: match by term: MAPKAPK3-related condition | ClinVar Annotator: match by term: Patterned macular dystrophy 3 |
OMIM ClinVar |
PMID:25741868 PMID:26744326 PMID:28492532 |
|
NCBI chrNW_004936529:2,130,421...2,159,859
Ensembl chrNW_004936529:2,130,252...2,160,313
|
|
|
G |
Abhd12 |
abhydrolase domain containing 12, lysophospholipase |
|
ISO |
ClinVar Annotator: match by term: ABHD12-related condition | ClinVar Annotator: match by term: PHARC syndrome |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:20797687 PMID:23806086 PMID:24088041 PMID:24697911 PMID:25741868 PMID:26257172 PMID:26467025 PMID:28041643 PMID:28492532 PMID:29571850 PMID:30311386 PMID:31690835 PMID:34085946 PMID:37803361 More...
|
|
NCBI chrNW_004936620:451,216...531,353
Ensembl chrNW_004936620:451,174...531,454
|
|
|
G |
Flvcr1 |
FLVCR choline and heme transporter 1 |
|
ISO |
ClinVar Annotator: match by term: Posterior column ataxia with retinitis pigmentosa |
OMIM ClinVar |
PMID:9409377 PMID:9536098 PMID:9855554 PMID:17576681 PMID:21070897 PMID:21267618 PMID:22279524 PMID:22483575 PMID:23591405 PMID:24628582 PMID:25741868 PMID:26467025 PMID:27353947 PMID:27923065 PMID:28492532 PMID:28559085 PMID:28766925 PMID:29192808 PMID:30356807 PMID:30444160 PMID:30656474 PMID:31408049 PMID:31884612 PMID:31963381 PMID:32037395 PMID:32483926 PMID:32531858 PMID:32822874 PMID:32984570 PMID:36909829 More...
|
|
NCBI chrNW_004936557:693,445...727,166
Ensembl chrNW_004936557:692,489...726,965
|
|
G |
Flvcr2 |
FLVCR choline and putative heme transporter 2 |
|
ISO |
ClinVar Annotator: match by term: Posterior column ataxia with retinitis pigmentosa |
ClinVar |
PMID:20206334 PMID:20518025 PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936488:4,653,891...4,713,982
Ensembl chrNW_004936488:4,653,692...4,712,313
|
|
|
G |
Syn3 |
synapsin III |
|
ISO |
ClinVar Annotator: match by term: Fundus dystrophy, pseudoinflammatory, recessive form |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936492:6,836,441...7,253,867
Ensembl chrNW_004936492:6,876,684...7,253,375
|
|
G |
Timp3 |
TIMP metallopeptidase inhibitor 3 |
|
ISO |
ClinVar Annotator: match by term: Fundus dystrophy, pseudoinflammatory, recessive form |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936492:6,996,627...7,046,137
Ensembl chrNW_004936492:6,996,613...7,046,190
|
|
|
G |
Cryba1 |
crystallin beta A1 |
|
ISO |
mRNA:increased expression:retinal pigmented epithelium (rat) |
RGD |
PMID:21266465 |
RGD:126925759 |
NCBI chrNW_004936538:5,392,159...5,400,583
Ensembl chrNW_004936538:5,392,105...5,400,070
|
|
|
G |
Pde6h |
phosphodiesterase 6H |
|
ISO |
ClinVar Annotator: match by term: Retinal cone dystrophy 3A |
OMIM ClinVar |
PMID:15629837 PMID:22901948 PMID:25741868 PMID:27472364 PMID:28492532 |
|
NCBI chrNW_004936587:2,505,755...2,514,103
Ensembl chrNW_004936587:2,506,585...2,514,157
|
|
G |
Runx2 |
RUNX family transcription factor 2 |
|
ISO |
ClinVar Annotator: match by term: Retinal cone dystrophy 3A |
ClinVar |
PMID:15629837 |
|
NCBI chrNW_004936476:14,695,965...14,818,246
Ensembl chrNW_004936476:14,695,965...14,905,157
|
|
|
G |
Kcnv2 |
potassium voltage-gated channel modifier subfamily V member 2 |
|
ISO |
ClinVar Annotator: match by term: CONE DYSTROPHY WITH SUPERNORMAL ROD RESPONSES | ClinVar Annotator: match by term: Cone dystrophy with night blindness and supernormal rod responses KCNV2 related | ClinVar Annotator: match by term: KCNV2-related condition | ClinVar Annotator: match by term: Retinal cone dystrophy 3B | ClinVar Annotator: match by term: cone dystrophy with supernormal rod electroretinogram |
OMIM ClinVar |
PMID:8333273 PMID:16909397 PMID:17896311 PMID:18235024 PMID:18400204 PMID:19952985 PMID:21402906 PMID:21558291 PMID:21882291 PMID:21911584 PMID:22264887 PMID:23077521 PMID:23115240 PMID:23143909 PMID:23725738 PMID:23885164 PMID:25741868 PMID:28041643 PMID:28224992 PMID:28492532 PMID:28559085 PMID:30718709 PMID:31456290 PMID:31960170 PMID:33546218 PMID:35456422 More...
|
|
NCBI chrNW_004936503:2,320,570...2,332,833
Ensembl chrNW_004936503:2,319,617...2,332,971
|
|
|
G |
Cacna2d4 |
calcium voltage-gated channel auxiliary subunit alpha2delta 4 |
|
ISO |
ClinVar Annotator: match by term: CACNA2D4-related condition | ClinVar Annotator: match by term: Retinal cone dystrophy 4 |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17033974 PMID:17576681 PMID:24033266 PMID:25741868 PMID:26002053 PMID:26218913 PMID:26560832 PMID:28041643 PMID:28492532 PMID:30718709 PMID:36460718 More...
|
|
NCBI chrNW_004936606:2,011,454...2,118,255
Ensembl chrNW_004936606:2,012,156...2,118,167
|
|
|
G |
Trpm3 |
transient receptor potential cation channel subfamily M member 3 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy and iris coloboma with or without congenital cataract |
ClinVar |
PMID:26056285 PMID:28492532 PMID:37321975 |
|
NCBI chrNW_004936503:6,688,476...7,188,417
Ensembl chrNW_004936503:6,690,043...7,497,963
|
|
|
G |
Stx3 |
syntaxin 3 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy and microvillus inclusion disease |
OMIM ClinVar |
|
|
NCBI chrNW_004936581:2,944,230...2,976,957
Ensembl chrNW_004936581:2,941,953...2,971,405
|
|
|
G |
Ric3 |
RIC3 acetylcholine receptor chaperone |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy and obesity | ClinVar Annotator: match by term: TUB-related condition |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:24375934 PMID:25741868 PMID:28492532 PMID:31785789 PMID:36498982 More...
|
|
NCBI chrNW_004936528:9,790,594...9,829,120
Ensembl chrNW_004936528:9,790,463...9,825,777
|
|
G |
Tub |
TUB bipartite transcription factor |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy and obesity | ClinVar Annotator: match by term: TUB-related condition |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:24375934 PMID:25741868 PMID:28492532 PMID:31785789 PMID:36498982 More...
|
|
NCBI chrNW_004936528:9,829,889...9,912,645
Ensembl chrNW_004936528:9,834,954...9,855,080
|
|
|
G |
Acvr1c |
activin A receptor type 1C |
|
ISO |
associated with hyperaldosterone; mRNA:decreased expression:retina (rat) |
RGD |
PMID:29713904 |
RGD:152025547 |
NCBI chrNW_004936469:20,892,715...20,964,674
Ensembl chrNW_004936469:20,892,466...20,960,098
|
|
G |
Asns |
asparagine synthetase (glutamine-hydrolyzing) |
|
ISO |
associated with hyperaldosterone; mRNA:decreased expression:retina (rat) |
RGD |
PMID:29713904 |
RGD:152025547 |
NCBI chrNW_004936585:2,834,202...2,854,740
Ensembl chrNW_004936585:2,834,008...2,855,387
|
|
G |
Bard1 |
BRCA1 associated RING domain 1 |
|
ISO |
associated with hyperaldosterone; mRNA:decreased expression:retina (rat) |
RGD |
PMID:29713904 |
RGD:152025547 |
NCBI chrNW_004936586:2,200,211...2,272,781
Ensembl chrNW_004936586:2,200,205...2,273,307
|
|
G |
Card9 |
caspase recruitment domain family member 9 |
|
ISO |
associated with hyperaldosterone; mRNA:decreased expression:retina (rat) |
RGD |
PMID:29713904 |
RGD:152025547 |
NCBI chrNW_004936669:1,428,208...1,438,012
Ensembl chrNW_004936669:1,429,594...1,438,005
|
|
G |
Cdkn1a |
cyclin dependent kinase inhibitor 1A |
|
ISO |
associated with hyperaldosterone; mRNA:increased expression:retina (rat) |
RGD |
PMID:29713904 |
RGD:152025547 |
NCBI chrNW_004936476:22,717,308...22,725,127
Ensembl chrNW_004936476:22,717,260...22,725,182
|
|
G |
Crh |
corticotropin releasing hormone |
|
ISO |
associated with hyperaldosterone; mRNA:decreased expression:retina (rat) |
RGD |
PMID:29713904 |
RGD:152025547 |
NCBI chrNW_004936496:7,759,656...7,761,555
Ensembl chrNW_004936496:7,760,532...7,761,122
|
|
G |
Fcgr1a |
Fc fragment of IgG receptor Ia |
|
ISO |
associated with hyperaldosterone; mRNA:decreased expression:retina (rat) |
RGD |
PMID:29713904 |
RGD:152025547 |
NCBI chrNW_004936580:115,552...144,970
Ensembl chrNW_004936580:115,450...145,785
|
|
G |
Inhba |
inhibin subunit beta A |
|
ISO |
associated with hyperaldosterone; mRNA:decreased expression:retina (rat) |
RGD |
PMID:29713904 |
RGD:152025547 |
NCBI chrNW_004936478:16,878,725...16,884,065
|
|
G |
Itm2b |
integral membrane protein 2B |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities |
OMIM ClinVar |
PMID:24026677 PMID:25741868 PMID:28492532 PMID:31719132 |
|
NCBI chrNW_004936565:1,535,570...1,557,667
Ensembl chrNW_004936565:1,535,779...1,557,013
|
|
G |
Kcnh8 |
potassium voltage-gated channel subfamily H member 8 |
|
ISO |
associated with hyperaldosterone; mRNA:decreased expression:retina (rat) |
RGD |
PMID:29713904 |
RGD:152025547 |
NCBI chrNW_004936473:11,615,877...11,954,377
Ensembl chrNW_004936473:11,616,090...11,953,811
|
|
G |
Lck |
LCK proto-oncogene, Src family tyrosine kinase |
|
ISO |
associated with hyperaldosterone; mRNA:decreased expression:retina (rat) |
RGD |
PMID:29713904 |
RGD:152025547 |
NCBI chrNW_004936474:15,293,115...15,314,072
Ensembl chrNW_004936474:15,305,050...15,313,668
|
|
G |
Phlda1 |
pleckstrin homology like domain family A member 1 |
|
ISO |
associated with hyperaldosterone; mRNA:decreased expression:retina (rat) |
RGD |
PMID:29713904 |
RGD:152025547 |
NCBI chrNW_004936568:4,400,094...4,407,900
Ensembl chrNW_004936568:4,404,818...4,406,006
|
|
G |
Ptprc |
protein tyrosine phosphatase receptor type C |
|
ISO |
associated with hyperaldosterone; mRNA:decreased expression:retina (rat) |
RGD |
PMID:29713904 |
RGD:152025547 |
NCBI chrNW_004936567:5,266,653...5,378,464
Ensembl chrNW_004936567:5,267,615...5,378,258
|
|
G |
Sh3rf1 |
SH3 domain containing ring finger 1 |
|
ISO |
associated with hyperaldosterone; mRNA:decreased expression:retina (rat) |
RGD |
PMID:29713904 |
RGD:152025547 |
NCBI chrNW_004936516:1,267,128...1,429,040
Ensembl chrNW_004936516:1,267,029...1,428,841
|
|
G |
Tbx5 |
T-box transcription factor 5 |
|
ISO |
associated with hyperaldosterone; mRNA:increased expression:retina (rat) |
RGD |
PMID:29713904 |
RGD:152025547 |
NCBI chrNW_004936558:7,408,229...7,454,897
Ensembl chrNW_004936558:7,408,222...7,454,901
|
|
G |
Vdr |
vitamin D receptor |
|
ISO |
associated with hyperaldosterone; mRNA:increased expression:retina (rat) |
RGD |
PMID:29713904 |
RGD:152025547 |
NCBI chrNW_004936512:5,741,836...5,800,999
Ensembl chrNW_004936512:5,740,748...5,801,109
|
|
|
G |
Rcbtb1 |
RCC1 and BTB domain containing protein 1 |
|
ISO |
ClinVar Annotator: match by term: RETINAL DYSTROPHY WITH EXTRAOCULAR ANOMALIES | ClinVar Annotator: match by term: Retinal dystrophy with or without extraocular anomalies |
OMIM ClinVar |
PMID:25741868 PMID:26908610 PMID:27486781 PMID:28492532 PMID:31494449 |
|
NCBI chrNW_004936565:2,608,788...2,649,992
Ensembl chrNW_004936565:2,608,792...2,650,604
|
|
|
G |
Cfap410 |
cilia and flagella associated protein 410 |
|
ISO |
ClinVar Annotator: match by term: CFAP410-related condition | ClinVar Annotator: match by term: Retinal dystrophy with or without macular staphyloma |
OMIM ClinVar |
PMID:9536098 PMID:11702989 PMID:16199547 PMID:17576681 PMID:21910225 PMID:23105016 PMID:25741868 PMID:26167768 PMID:26294103 PMID:26974433 PMID:26992781 PMID:27548899 PMID:27596865 PMID:28005958 PMID:28041643 PMID:28422394 PMID:28492532 PMID:32036094 PMID:34906470 PMID:34915818 More...
|
|
NCBI chrNW_004936500:82,702...90,525
Ensembl chrNW_004936500:82,716...90,523
|
|
|
G |
Abca4 |
ATP binding cassette subfamily A member 4 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy, early-onset severe |
ClinVar |
PMID:9973280 PMID:10958761 PMID:16546111 PMID:24938718 PMID:25312043 PMID:25544989 PMID:25741868 PMID:26780318 PMID:28041643 PMID:28492532 PMID:28947085 PMID:30718709 PMID:33546218 PMID:36909829 More...
|
|
NCBI chrNW_004936537:4,969,456...5,326,682
Ensembl chrNW_004936537:5,202,093...5,323,527
|
|
G |
Alms1 |
ALMS1 centrosome and basal body associated protein |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy, early-onset severe |
ClinVar |
PMID:17594715 PMID:18414213 PMID:22876109 PMID:25741868 PMID:25846608 PMID:26704672 PMID:28112973 PMID:28432734 PMID:28492532 PMID:29718281 More...
|
|
NCBI chrNW_004936491:17,152,759...17,342,648
|
|
|
G |
Ffar4 |
free fatty acid receptor 4 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy, iris coloboma, and comedogenic acne syndrome |
ClinVar |
PMID:9888420 PMID:10232633 PMID:16157297 PMID:25741868 PMID:25910211 PMID:28492532 More...
|
|
NCBI chrNW_004936601:1,413,236...1,434,036
Ensembl chrNW_004936601:1,413,208...1,433,455
|
|
G |
Rbp4 |
retinol binding protein 4 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy, iris coloboma, and comedogenic acne syndrome |
OMIM ClinVar |
PMID:9888420 PMID:10232633 PMID:16157297 PMID:23189188 PMID:25741868 PMID:25910211 PMID:28492532 More...
|
|
NCBI chrNW_004936601:1,401,215...1,410,195
Ensembl chrNW_004936601:1,402,691...1,410,208
|
|
|
G |
Gphn |
gephyrin |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy, juvenile cataracts, and short stature syndrome |
ClinVar |
PMID:24916380 PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936495:9,970,683...10,565,467
Ensembl chrNW_004936495:9,972,007...10,564,591
|
|
G |
Rdh11 |
retinol dehydrogenase 11 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy, juvenile cataracts, and short stature syndrome |
OMIM ClinVar |
PMID:24916380 PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936495:11,065,946...11,082,104
Ensembl chrNW_004936495:11,066,660...11,082,044
|
|
|
G |
Alpk1 |
alpha kinase 1 |
|
ISO |
ClinVar Annotator: match by term: ALPK1-related condition | ClinVar Annotator: match by term: Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:30967659 PMID:31053777 PMID:31939038 PMID:35868845 More...
|
|
NCBI chrNW_004936563:3,233,913...3,296,671
Ensembl chrNW_004936563:3,235,181...3,296,257
|
|
|
G |
Abca4 |
ATP binding cassette subfamily A member 4 |
susceptibility |
ISO |
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Syndromic retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Pigmentary retinopathy | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Syndromic retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration |
RGD ClinVar |
PMID:9054934 PMID:9295268 PMID:9466990 PMID:9536098 PMID:9781034 PMID:9973280 PMID:10090887 PMID:10206579 PMID:10396622 PMID:10458172 PMID:10612508 PMID:10634594 PMID:10711710 PMID:10746567 PMID:10880298 PMID:10958761 PMID:10958763 PMID:11017087 PMID:11328725 PMID:11346402 PMID:11379881 PMID:11444963 PMID:11527935 PMID:11594993 PMID:11702214 PMID:11726554 PMID:11846518 PMID:11857735 PMID:11919200 PMID:11973624 PMID:12037008 PMID:12192456 PMID:12515255 PMID:12796258 PMID:14517951 PMID:14971589 PMID:15108289 PMID:15161829 PMID:15192030 PMID:15494742 PMID:15516930 PMID:15579991 PMID:15614537 PMID:16103129 PMID:16123440 PMID:16199547 PMID:16303926 PMID:16400609 PMID:16917483 PMID:17325136 PMID:17325179 PMID:17576681 PMID:17724221 PMID:17982420 PMID:18024811 PMID:18285826 PMID:18977788 PMID:19028736 PMID:19074458 PMID:19217903 PMID:19243736 PMID:19265867 PMID:19365591 PMID:20029649 PMID:20335603 PMID:20554613 PMID:20647261 PMID:20696155 PMID:20981092 PMID:21293320 PMID:21330655 PMID:21786275 PMID:21911583 PMID:22025579 PMID:22229821 PMID:22247458 PMID:22264887 PMID:22312191 PMID:22328824 PMID:22334370 PMID:22427542 PMID:22449572 PMID:22589445 PMID:22661472 PMID:22661473 PMID:22735453 PMID:22968130 PMID:22995991 PMID:23096905 PMID:23105016 PMID:23143460 PMID:23144455 PMID:23419329 PMID:23443024 PMID:23591405 PMID:23695285 PMID:23755871 PMID:23769331 PMID:23918662 PMID:23940504 PMID:23949494 PMID:23953153 PMID:23982839 PMID:24011517 PMID:24033266 PMID:24082139 PMID:24097981 PMID:24154662 PMID:24265693 PMID:24409374 PMID:24444108 PMID:24453473 PMID:24509150 PMID:24713488 PMID:24938718 PMID:25066811 PMID:25082829 PMID:25082885 PMID:25087612 PMID:25097241 PMID:25283059 PMID:25312043 PMID:25333069 PMID:25346251 PMID:25356976 PMID:25472526 PMID:25474345 PMID:25525159 PMID:25640233 PMID:25698705 PMID:25712131 PMID:25741868 PMID:25910913 PMID:25921964 PMID:26103963 PMID:26161775 PMID:26229699 PMID:26247787 PMID:26261413 PMID:26355662 PMID:26497376 PMID:26527198 PMID:26593885 PMID:26743751 PMID:26780318 PMID:26872967 PMID:26976702 PMID:27014590 PMID:27030965 PMID:27367509 PMID:27535533 PMID:27583828 PMID:27628848 PMID:27739528 PMID:27775217 PMID:27820952 PMID:27939946 PMID:28041643 PMID:28044389 PMID:28118664 PMID:28130426 PMID:28181551 PMID:28224992 PMID:28327576 PMID:28430335 PMID:28446513 PMID:28492532 PMID:28512305 PMID:28559085 PMID:29068140 PMID:29099798 PMID:29114839 PMID:29145636 PMID:29162642 PMID:29186038 PMID:29310964 PMID:29461686 PMID:29555955 PMID:29847635 PMID:29847651 PMID:29925512 PMID:29971439 PMID:29975949 PMID:30054919 PMID:30060493 PMID:30093795 PMID:30190494 PMID:30480703 PMID:30576320 PMID:30670881 PMID:30718709 PMID:30902645 PMID:31015497 PMID:31213501 PMID:31397521 PMID:31456290 PMID:31522899 PMID:31543898 PMID:31736247 PMID:31814694 PMID:31964843 PMID:31968401 PMID:32235935 PMID:32278709 PMID:32307445 PMID:32413971 PMID:32531858 PMID:32619608 PMID:32783370 PMID:32845050 PMID:32856788 PMID:33223529 PMID:33375396 PMID:33546218 PMID:33691693 PMID:33851411 PMID:34008892 PMID:34874912 PMID:34906470 PMID:35260635 PMID:35903041 PMID:36909829 PMID:38054408 PMID:92952680 More...
|
RGD:1598552 |
NCBI chrNW_004936537:4,969,456...5,326,682
Ensembl chrNW_004936537:5,202,093...5,323,527
|
|
G |
Acan |
aggrecan |
treatment |
ISO |
|
RGD |
PMID:25646031 |
RGD:11570529 |
NCBI chrNW_004936483:14,811,152...14,846,305
Ensembl chrNW_004936483:14,811,152...14,846,305
|
|
G |
Adam9 |
ADAM metallopeptidase domain 9 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa |
ClinVar |
PMID:26261414 PMID:28492532 PMID:31456290 |
|
NCBI chrNW_004936710:2,301,470...2,388,533
Ensembl chrNW_004936710:2,301,730...2,387,695
|
|
G |
Adamts18 |
ADAM metallopeptidase with thrombospondin type 1 motif 18 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936475:25,698,117...25,831,291
Ensembl chrNW_004936475:25,699,840...25,831,284
|
|
G |
Adgra3 |
adhesion G protein-coupled receptor A3 |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa |
ClinVar |
PMID:23105016 PMID:26355662 PMID:28492532 PMID:30718709 |
|
NCBI chrNW_004936477:6,531,506...6,637,628
Ensembl chrNW_004936477:6,531,501...6,638,135
|
|
G |
Adgrv1 |
adhesion G protein-coupled receptor V1 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa |
ClinVar |
PMID:16199547 PMID:18414213 PMID:19357117 PMID:22135276 PMID:22147658 PMID:22334370 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26667666 PMID:28492532 PMID:30029497 PMID:30718709 More...
|
|
NCBI chrNW_004936469:8,653,031...9,209,840
|
|
G |
Agbl5 |
AGBL carboxypeptidase 5 |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa |
ClinVar |
PMID:25741868 PMID:28492532 PMID:31725702 PMID:34906470 |
|
NCBI chrNW_004936493:5,470,623...5,488,542
Ensembl chrNW_004936493:5,469,449...5,488,549
|
|
G |
Ahi1 |
Abelson helper integration site 1 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa |
ClinVar |
PMID:15322546 PMID:16453322 PMID:21866095 PMID:24033266 PMID:25445212 PMID:25741868 PMID:26092869 PMID:28041643 PMID:28431631 PMID:28442542 PMID:28492532 PMID:29186038 PMID:32165824 PMID:34191236 More...
|
|
NCBI chrNW_004936560:2,881,631...3,057,256
Ensembl chrNW_004936560:2,881,977...3,038,725
|
|
G |
Aifm1 |
apoptosis inducing factor mitochondria associated 1 |
treatment |
ISO |
protein:increased expression:nucleus: |
RGD |
PMID:23951212 |
RGD:10053563 |
NCBI chrNW_004936479:1,441,508...1,477,133
Ensembl chrNW_004936479:1,441,437...1,478,107
|
|
G |
Aipl1 |
aryl hydrocarbon receptor interacting protein like 1 |
treatment |
ISO |
ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa |
RGD ClinVar |
PMID:10615133 PMID:10873396 PMID:11139241 PMID:12881340 PMID:14611946 PMID:15249368 PMID:15347646 PMID:15469903 PMID:16052170 PMID:18408180 PMID:18682808 PMID:19710705 PMID:20301475 PMID:20683928 PMID:22412862 PMID:23737531 PMID:25741868 PMID:28492532 PMID:33938912 More...
|
RGD:8696011 |
NCBI chrNW_004936677:1,539,502...1,548,343
Ensembl chrNW_004936677:1,538,874...1,548,010
|
|
G |
Alms1 |
ALMS1 centrosome and basal body associated protein |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa |
ClinVar |
PMID:17594715 PMID:25706677 PMID:25741868 PMID:25846608 PMID:28492532 PMID:30718709 PMID:32037395 PMID:34906470 More...
|
|
NCBI chrNW_004936491:17,152,759...17,342,648
|
|
G |
Arhgef18 |
Rho/Rac guanine nucleotide exchange factor 18 |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936588:4,522,517...4,572,551
Ensembl chrNW_004936588:4,514,691...4,572,518
|
|
G |
Arl2bp |
ADP ribosylation factor like GTPase 2 binding protein |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa |
ClinVar |
PMID:23849777 PMID:25741868 PMID:27790702 PMID:36909829 |
|
NCBI chrNW_004936475:9,343,333...9,352,089
Ensembl chrNW_004936475:9,343,336...9,352,065
|
|
G |
Arl3 |
ADP ribosylation factor like GTPase 3 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa |
ClinVar |
PMID:25741868 PMID:28492532 PMID:33748123 |
|
NCBI chrNW_004936600:3,190,212...3,229,831
Ensembl chrNW_004936600:3,190,208...3,232,755
|
|
G |
Arl6 |
ADP ribosylation factor like GTPase 6 |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration |
ClinVar |
PMID:15314642 PMID:17160889 PMID:19236846 PMID:19858128 PMID:19956407 PMID:20177705 PMID:20498079 PMID:21282186 PMID:22410627 PMID:23219996 PMID:25741868 PMID:25741915 PMID:26355662 PMID:27124789 PMID:28005406 PMID:28041643 PMID:28130426 PMID:28492532 PMID:31054281 PMID:32906206 PMID:33090715 PMID:33946315 PMID:34906470 PMID:35457050 More...
|
|
NCBI chrNW_004936666:3,077,006...3,102,469
Ensembl chrNW_004936666:3,076,778...3,103,649
|
|
G |
Atf6 |
activating transcription factor 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26029869 |
|
NCBI chrNW_004937131:170,649...183,942
|
|
G |
Atp5me |
ATP synthase membrane subunit e |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa |
ClinVar |
PMID:8394174 PMID:8595886 PMID:22334370 PMID:25741868 PMID:27588261 PMID:28492532 More...
|
|
NCBI chrNW_004936477:22,416,505...22,417,543
Ensembl chrNW_004936477:22,416,539...22,417,543
|
|
G |
B3gat3 |
beta-1,3-glucuronyltransferase 3 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa |
ClinVar |
PMID:20335603 PMID:28492532 |
|
NCBI chrNW_004936581:636,648...642,138
Ensembl chrNW_004936581:636,436...644,637
|
|
G |
Bbs1 |
Bardet-Biedl syndrome 1 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa |
ClinVar |
PMID:9536098 PMID:12118255 PMID:12524598 PMID:12677556 PMID:12837689 PMID:15314642 PMID:15770229 PMID:16327777 PMID:17576681 PMID:17980398 PMID:18032602 PMID:18669544 PMID:18766993 PMID:20120035 PMID:20177705 PMID:20301537 PMID:20498079 PMID:21052717 PMID:21344540 PMID:21517826 PMID:21520335 PMID:21642631 PMID:22410627 PMID:22581970 PMID:22773737 PMID:22940089 PMID:22998390 PMID:23143442 PMID:23565731 PMID:23847139 PMID:23943788 PMID:24033266 PMID:24746959 PMID:25326635 PMID:25741868 PMID:26261414 PMID:26467025 PMID:26872967 PMID:27032803 PMID:27659767 PMID:27788217 PMID:28041643 PMID:28143435 PMID:28492532 PMID:29264490 PMID:29588463 PMID:30614526 PMID:30718709 PMID:33532864 PMID:34526762 PMID:34906470 PMID:36909829 More...
|
|
NCBI chrNW_004936599:3,059,274...3,076,853
Ensembl chrNW_004936599:3,059,148...3,076,299
|
|
G |
Bbs10 |
Bardet-Biedl syndrome 10 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa |
ClinVar |
PMID:16582908 PMID:20120035 PMID:20498079 PMID:20805367 PMID:20876674 PMID:21052717 PMID:21209035 PMID:21344540 PMID:21642631 PMID:24400638 PMID:24746959 PMID:25741868 PMID:26467025 PMID:27385962 PMID:28041643 PMID:28492532 PMID:30614526 PMID:30718709 PMID:35112343 More...
|
|
NCBI chrNW_004936568:4,640,611...4,644,627
Ensembl chrNW_004936568:4,638,637...4,644,502
|
|
G |
Bbs12 |
Bardet-Biedl syndrome 12 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa |
ClinVar |
PMID:17160889 PMID:20120035 PMID:20498079 PMID:20648243 PMID:21463199 PMID:25741868 PMID:28492532 PMID:30718709 PMID:31196119 PMID:31964843 PMID:32448990 More...
|
|
NCBI chrNW_004936662:1,822,727...1,832,403
Ensembl chrNW_004936662:1,830,137...1,832,263
|
|
G |
Bbs2 |
Bardet-Biedl syndrome 2 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa |
ClinVar |
PMID:9536098 PMID:11285252 PMID:11567139 PMID:17576681 PMID:19402160 PMID:20120035 PMID:20177705 PMID:20498079 PMID:21052717 PMID:21344540 PMID:21642631 PMID:22401627 PMID:22410627 PMID:23829372 PMID:24033266 PMID:24608809 PMID:25133751 PMID:25412400 PMID:25541840 PMID:25741868 PMID:26355662 PMID:26467025 PMID:26518167 PMID:27659767 PMID:27894351 PMID:28492532 PMID:28559085 PMID:30718709 PMID:31456290 PMID:31530639 PMID:31877679 PMID:31980526 PMID:32037395 PMID:33777945 PMID:33921607 PMID:34008892 PMID:34906470 PMID:35112343 PMID:35886001 More...
|
|
NCBI chrNW_004936475:8,785,914...8,810,490
Ensembl chrNW_004936475:8,785,154...8,810,541
|
|
G |
Bbs4 |
Bardet-Biedl syndrome 4 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa |
ClinVar |
PMID:11381270 PMID:12016587 PMID:20177705 PMID:25741868 PMID:27894351 PMID:28492532 PMID:32531858 PMID:34906470 More...
|
|
NCBI chrNW_004936471:31,962,500...32,019,516
Ensembl chrNW_004936471:31,962,336...32,020,712
|
|
G |
Bbs7 |
Bardet-Biedl syndrome 7 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa |
ClinVar |
PMID:25741868 PMID:28492532 PMID:30718709 |
|
NCBI chrNW_004936662:1,081,237...1,116,719
Ensembl chrNW_004936662:1,080,295...1,116,636
|
|
G |
Bbs9 |
Bardet-Biedl syndrome 9 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa |
ClinVar |
PMID:30718709 |
|
NCBI chrNW_004936478:8,959,198...9,408,683
Ensembl chrNW_004936478:8,959,121...9,408,714
|
|
G |
Bcan |
brevican |
severity |
ISO |
|
RGD |
PMID:29150673 |
RGD:14392802 |
NCBI chrNW_004936580:5,816,196...5,828,531
Ensembl chrNW_004936580:5,816,359...5,828,126
|
|
G |
Best1 |
bestrophin 1 |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa |
ClinVar |
PMID:9536098 PMID:10453731 PMID:10798642 PMID:10854112 PMID:11713080 PMID:14615048 PMID:16754206 PMID:17110374 PMID:17576681 PMID:17898294 PMID:18179881 PMID:19853238 PMID:20057343 PMID:21109774 PMID:21192766 PMID:21273940 PMID:21330666 PMID:21809908 PMID:21825197 PMID:22162627 PMID:22183385 PMID:22422030 PMID:23290749 PMID:24033266 PMID:24560797 PMID:25324289 PMID:25489231 PMID:25741868 PMID:26200502 PMID:26310487 PMID:26333019 PMID:27071392 PMID:27519691 PMID:27764019 PMID:28041643 PMID:28492532 PMID:28559085 PMID:28590961 PMID:28687848 PMID:29063836 PMID:29068140 PMID:29215532 PMID:29847639 PMID:29976937 PMID:30498755 PMID:30593719 PMID:30718709 PMID:33039401 PMID:33302512 PMID:33546218 PMID:34012682 PMID:36909829 More...
|
|
NCBI chrNW_004936581:1,120,681...1,132,226
Ensembl chrNW_004936581:1,120,474...1,132,230
|
|
G |
Ca4 |
carbonic anhydrase 4 |
susceptibility |
ISO |
ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa |
RGD ClinVar |
PMID:7581389 PMID:9385361 PMID:9536098 PMID:15090652 PMID:15295099 PMID:15563508 PMID:17576681 PMID:20238024 PMID:20626030 PMID:25741868 PMID:28492532 PMID:29343940 PMID:33022222 More...
|
RGD:1600730 |
NCBI chrNW_004936490:1,764,845...1,773,752
Ensembl chrNW_004936490:1,764,795...1,774,645
|
|
G |
Cacna1f |
calcium voltage-gated channel subunit alpha1 F |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa |
ClinVar |
PMID:25741868 PMID:28492532 PMID:30718709 PMID:34906470 |
|
NCBI chrNW_004936721:1,078,570...1,106,153
Ensembl chrNW_004936721:1,078,650...1,106,113
|
|
G |
Cacna2d4 |
calcium voltage-gated channel auxiliary subunit alpha2delta 4 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa |
ClinVar |
PMID:25741868 PMID:28492532 PMID:32531858 |
|
NCBI chrNW_004936606:2,011,454...2,118,255
Ensembl chrNW_004936606:2,012,156...2,118,167
|
|
G |
Casp7 |
caspase 7 |
|
ISO |
|
RGD |
PMID:23470535 |
RGD:8548491 |
NCBI chrNW_004936486:4,082,664...4,114,942
Ensembl chrNW_004936486:4,088,372...4,114,955
|
|
G |
Cat |
catalase |
|
ISO |
|
RGD |
PMID:19293779 |
RGD:8158049 |
NCBI chrNW_004936533:3,601,270...3,637,128
Ensembl chrNW_004936533:3,600,955...3,637,422
|
|
G |
Ccdc66 |
coiled-coil domain containing 66 |
|
ISO |
OMIM:268000 |
MouseDO |
|
|
NCBI chrNW_004936473:7,027,543...7,054,079
Ensembl chrNW_004936473:7,027,495...7,055,028
|
|
G |
Cdh3 |
cadherin 3 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa |
ClinVar |
PMID:26306921 PMID:28492532 PMID:30718709 |
|
NCBI chrNW_004936475:18,908,031...18,954,402
Ensembl chrNW_004936475:18,906,493...18,955,072
|
|
G |
Cdhr1 |
cadherin related family member 1 |
|
ISO |
ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa |
ClinVar |
PMID:9536098 PMID:17576681 PMID:20805371 PMID:23044944 PMID:23591405 PMID:24033266 PMID:25741868 PMID:26103963 PMID:26261414 PMID:26306921 PMID:26766544 PMID:27353947 PMID:28041643 PMID:28224992 PMID:28492532 PMID:28765526 PMID:28885867 PMID:29555955 PMID:30718709 PMID:31387115 PMID:32037395 PMID:32681094 PMID:33546218 PMID:34795310 PMID:34906470 PMID:35627310 More...
|
|
NCBI chrNW_004936767:805,910...829,838
Ensembl chrNW_004936767:805,558...827,712
|
|
G |
Cep250 |
centrosomal protein 250 |
|
ISO |
|
MouseDO |
|
|
NCBI chrNW_004936561:5,283,258...5,331,688
Ensembl chrNW_004936561:5,280,959...5,322,038
|
|
G |
Cep290 |
centrosomal protein 290 |
|
ISO |
ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa |
ClinVar |
PMID:16199547 PMID:16682970 PMID:16682973 PMID:16909394 PMID:17345604 PMID:17564967 PMID:17564974 PMID:17964524 PMID:18414213 PMID:19466712 PMID:19764032 PMID:20079931 PMID:20301475 PMID:20690115 PMID:21068128 PMID:21153841 PMID:21245082 PMID:21866095 PMID:22334370 PMID:22355252 PMID:22693042 PMID:23188109 PMID:23343883 PMID:23344081 PMID:23351400 PMID:23559409 PMID:23591405 PMID:23954617 PMID:25377065 PMID:25741868 PMID:25818971 PMID:26092869 PMID:27353947 PMID:28041643 PMID:28157192 PMID:28224992 PMID:28492532 PMID:28497568 PMID:28559085 PMID:29343940 PMID:29398085 PMID:29844330 PMID:30190494 PMID:30718709 PMID:31630094 PMID:32865313 PMID:33546218 PMID:33576794 PMID:33924653 PMID:34321860 PMID:34906470 PMID:36909829 More...
|
|
NCBI chrNW_004936507:5,223,756...5,305,392
Ensembl chrNW_004936507:5,221,910...5,305,422
|
|
G |
Cerkl |
ceramide kinase like |
susceptibility |
ISO |
DNA:mutation:exon ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration |
RGD ClinVar |
PMID:9536098 PMID:14681825 PMID:15708351 PMID:16199547 PMID:17576681 PMID:18055789 PMID:18978954 PMID:19501188 PMID:19578027 PMID:20554613 PMID:21151602 PMID:22164218 PMID:23105016 PMID:23591405 PMID:24043777 PMID:24123366 PMID:24498393 PMID:24547929 PMID:24625443 PMID:24705292 PMID:24735978 PMID:25097241 PMID:25342276 PMID:25741868 PMID:25999674 PMID:26355662 PMID:27208204 PMID:28041643 PMID:28341476 PMID:28492532 PMID:28559085 PMID:28838317 PMID:29068140 PMID:30054919 PMID:30718709 PMID:31456290 PMID:31816670 PMID:32037395 PMID:32531858 PMID:33322828 PMID:33749171 PMID:33921607 PMID:34315337 PMID:34906470 PMID:35119454 PMID:35318874 PMID:36909829 PMID:221642182 More...
|
RGD:1600829 |
NCBI chrNW_004936509:10,294,247...10,404,743
Ensembl chrNW_004936509:10,294,988...10,404,609
|
|
G |
Cfap410 |
cilia and flagella associated protein 410 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa |
ClinVar |
PMID:23105016 PMID:25741868 PMID:26167768 PMID:26974433 PMID:27596865 PMID:28041643 PMID:28422394 PMID:28492532 PMID:34906470 PMID:36909829 More...
|
|
NCBI chrNW_004936500:82,702...90,525
Ensembl chrNW_004936500:82,716...90,523
|
|
G |
Cfap418 |
cilia and flagella associated protein 418 |
|
ISO |
ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa |
ClinVar |
PMID:22177090 PMID:25515582 PMID:25741868 PMID:25802487 PMID:26355662 PMID:26854863 PMID:26865426 PMID:27008867 PMID:28492532 PMID:30029497 PMID:31456290 PMID:34906470 More...
|
|
NCBI chrNW_004936544:8,170,841...8,192,896
Ensembl chrNW_004936544:8,170,081...8,192,835
|
|
G |
Chm |
CHM Rab escort protein |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa |
ClinVar |
PMID:9067750 PMID:19422966 PMID:23811034 PMID:25741868 PMID:28492532 PMID:28559085 PMID:30718709 More...
|
|
NCBI chrNW_004936547:6,368,941...6,533,199
Ensembl chrNW_004936547:6,368,918...6,533,237
|
|
G |
Cln3 |
CLN3 lysosomal/endosomal transmembrane protein, battenin |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa |
ClinVar |
PMID:7553855 PMID:9004140 PMID:9311735 PMID:9392580 PMID:9536098 PMID:10332042 PMID:17576681 PMID:17947292 PMID:19132115 PMID:20301601 PMID:21990111 PMID:22013180 PMID:24154662 PMID:25741868 PMID:26766544 PMID:28041643 PMID:28224992 PMID:28492532 PMID:28542676 PMID:28559085 PMID:29049447 PMID:31568712 PMID:32581362 PMID:32685355 PMID:33507216 PMID:34906470 PMID:36909829 More...
|
|
NCBI chrNW_004936501:11,955,334...11,967,338
Ensembl chrNW_004936501:11,955,184...11,967,436
|
|
G |
Clrn1 |
clarin 1 |
|
ISO |
ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa |
ClinVar |
PMID:11524702 PMID:12080385 PMID:12145752 PMID:14569126 PMID:15521980 PMID:16028794 PMID:17893653 PMID:18281613 PMID:19423712 PMID:19753315 PMID:20717163 PMID:22681893 PMID:22787034 PMID:22952768 PMID:23304067 PMID:24033266 PMID:24498627 PMID:24596593 PMID:25741868 PMID:26180195 PMID:26338283 PMID:27460420 PMID:28041643 PMID:28492532 PMID:30311386 PMID:30718709 PMID:34906470 More...
|
|
NCBI chrNW_004936758:1,250,831...1,286,016
Ensembl chrNW_004936758:1,250,769...1,285,376
|
|
G |
Cnga1 |
cyclic nucleotide gated channel subunit alpha 1 |
|
ISO |
ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa |
ClinVar |
PMID:7479749 PMID:12362048 PMID:16199547 PMID:18310263 PMID:23462753 PMID:24033266 PMID:24154662 PMID:24265693 PMID:25268133 PMID:25324289 PMID:25326637 PMID:25356976 PMID:25611614 PMID:25741868 PMID:26306921 PMID:26496393 PMID:27391953 PMID:28041643 PMID:28492532 PMID:28981474 PMID:29785639 PMID:30337596 PMID:30718709 PMID:31456290 PMID:32037395 PMID:32531858 PMID:33090715 PMID:33946315 PMID:34906470 More...
|
|
NCBI chrNW_004936482:14,091,343...14,107,793
Ensembl chrNW_004936482:14,091,913...14,107,787
|
|
G |
Cngb1 |
cyclic nucleotide gated channel subunit beta 1 |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Syndromic retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Pigmentary retinopathy | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa |
ClinVar |
PMID:9536098 PMID:11379879 PMID:15557452 PMID:16199547 PMID:17032466 PMID:17576681 PMID:21147909 PMID:21987686 PMID:22025579 PMID:23105016 PMID:23484092 PMID:23661369 PMID:24043777 PMID:24339724 PMID:24938718 PMID:25324289 PMID:25741868 PMID:25943428 PMID:25999674 PMID:26355662 PMID:26667666 PMID:26894784 PMID:27854218 PMID:27874104 PMID:27989324 PMID:28041643 PMID:28056120 PMID:28492532 PMID:28559085 PMID:29068140 PMID:29202463 PMID:29597005 PMID:29912909 PMID:30718709 PMID:30902645 PMID:31456290 PMID:31570810 PMID:31725169 PMID:31931872 PMID:32037395 PMID:32531858 PMID:32581362 PMID:32613137 PMID:33394956 PMID:33546218 PMID:33576794 PMID:33847019 PMID:33946315 PMID:34795310 PMID:34906470 PMID:35743231 PMID:36819107 PMID:36909829 More...
|
|
NCBI chrNW_004936475:9,844,438...9,908,009
|
|
G |
Cngb3 |
cyclic nucleotide gated channel subunit beta 3 |
|
ISO |
ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration |
ClinVar |
PMID:1347967 PMID:10888875 PMID:10958649 PMID:11124331 PMID:12815043 PMID:14757870 PMID:15161866 PMID:15657609 PMID:15712225 PMID:16379026 PMID:17265047 PMID:19592100 PMID:20301591 PMID:21270786 PMID:22975760 PMID:22995991 PMID:23805033 PMID:24033266 PMID:24504161 PMID:25741868 PMID:25770143 PMID:25974703 PMID:26106334 PMID:28005958 PMID:28041643 PMID:28166811 PMID:28224992 PMID:28418496 PMID:28492532 PMID:28795510 PMID:30418171 PMID:30544257 PMID:30718709 PMID:32860008 PMID:32869108 PMID:33546218 PMID:36909829 More...
|
|
NCBI chrNW_004936544:1,166,896...1,305,339
Ensembl chrNW_004936544:1,166,508...1,305,457
|
|
G |
Cnnm4 |
cyclin and CBS domain divalent metal cation transport mediator 4 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa |
ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:30718709 PMID:34906470 More...
|
|
NCBI chrNW_004936744:715,523...754,148
Ensembl chrNW_004936744:714,721...771,835
|
|
G |
Cntf |
ciliary neurotrophic factor |
disease_progression |
ISO |
associated with lens injury |
RGD |
PMID:24558606 |
RGD:40818112 |
NCBI chrNW_004936581:3,710,171...3,715,753
Ensembl chrNW_004936581:3,710,160...3,715,638
|
|
G |
Col18a1 |
collagen type XVIII alpha 1 chain |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa |
ClinVar |
PMID:12415512 PMID:19160445 PMID:19390655 PMID:20799329 PMID:21862674 PMID:23667181 PMID:25456301 PMID:25741868 PMID:28041643 PMID:28492532 PMID:29977801 PMID:34828430 More...
|
|
NCBI chrNW_004936778:847,473...943,038
|
|
G |
Col2a1 |
collagen type II alpha 1 chain |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936512:5,861,933...5,894,898
Ensembl chrNW_004936512:5,861,933...5,892,853
|
|
G |
Crb1 |
crumbs cell polarity complex component 1 |
susceptibility |
ISO |
DNA:missense mutations ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant/Recessive | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration ClinVar Annotator: match by term: Autosomal dominant retinitis pigmentosa | ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Pigmentary retinopathy | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa |
RGD ClinVar |
PMID:9536098 PMID:10508521 PMID:11231775 PMID:11389483 PMID:12700176 PMID:12843338 PMID:14971589 PMID:15024725 PMID:15459956 PMID:15623792 PMID:16123401 PMID:16272259 PMID:16936081 PMID:17576681 PMID:17964524 PMID:18055816 PMID:19339744 PMID:19401883 PMID:19956407 PMID:20079931 PMID:20301475 PMID:20591486 PMID:20683928 PMID:20956273 PMID:21602930 PMID:21757580 PMID:22065545 PMID:22164218 PMID:22968130 PMID:23077403 PMID:23105016 PMID:23362850 PMID:23379534 PMID:23449718 PMID:24033266 PMID:24265693 PMID:24512366 PMID:24535598 PMID:24715753 PMID:24811962 PMID:24938718 PMID:25097241 PMID:25356976 PMID:25412400 PMID:25741868 PMID:26047050 PMID:26355662 PMID:26497376 PMID:26957898 PMID:27113771 PMID:27157150 PMID:27353947 PMID:27380427 PMID:28041643 PMID:28129017 PMID:28341475 PMID:28492532 PMID:28800606 PMID:29074561 PMID:29178642 PMID:29200130 PMID:29391521 PMID:30029497 PMID:30543658 PMID:30718709 PMID:31456290 PMID:32165824 PMID:32531858 PMID:32581362 PMID:33090715 PMID:33546218 PMID:33579689 PMID:33921607 PMID:34884448 PMID:34906470 PMID:36909829 More...
|
RGD:1600966 |
NCBI chrNW_004936567:6,347,661...6,559,731
Ensembl chrNW_004936567:6,366,489...6,559,766
|
|
G |
Crb2 |
crumbs cell polarity complex component 2 |
|
ISO |
OMIM:268000 |
RGD MouseDO |
PMID:24493795 |
RGD:8552786 |
NCBI chrNW_004936487:11,793,078...11,813,803
Ensembl chrNW_004936487:11,793,005...11,812,934
|
|
G |
Crygs |
crystallin gamma S |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa |
ClinVar |
PMID:16141006 PMID:25741868 |
|
NCBI chrNW_004936578:3,404,552...3,410,604
Ensembl chrNW_004936578:3,404,673...3,410,760
|
|
G |
Cwc27 |
CWC27 spliceosome associated cyclophilin |
|
ISO |
|
MouseDO |
|
|
NCBI chrNW_004936480:4,090,005...4,305,770
Ensembl chrNW_004936480:4,090,005...4,305,632
|
|
G |
Cygb |
cytoglobin |
|
ISO |
ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration |
ClinVar |
PMID:9536098 PMID:16199547 PMID:16938425 PMID:17576681 PMID:20507925 PMID:23661369 PMID:23805042 PMID:25741868 PMID:26806561 PMID:28181551 PMID:28492532 PMID:29785639 PMID:32036094 PMID:36909829 More...
|
|
NCBI chrNW_004936594:1,602,436...1,613,783
Ensembl chrNW_004936594:1,604,710...1,613,783
|
|
G |
Dhdds |
dehydrodolichyl diphosphate synthase subunit |
|
ISO |
ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa |
ClinVar |
PMID:21295282 PMID:21295283 PMID:22110072 PMID:23590195 PMID:24033266 PMID:24078709 PMID:24664694 PMID:25066056 PMID:25255364 PMID:25541840 PMID:25741868 PMID:26261414 PMID:27343064 PMID:28130426 PMID:28492532 PMID:28542158 PMID:28559085 PMID:29276052 PMID:31456290 PMID:34906470 More...
|
|
NCBI chrNW_004936474:10,914,018...10,949,138
Ensembl chrNW_004936474:10,913,903...10,950,095
|
|
G |
Dhx38 |
DEAH-box helicase 38 |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa |
ClinVar |
PMID:25741868 PMID:30208423 |
|
NCBI chrNW_004936475:21,811,693...21,830,560
Ensembl chrNW_004936475:21,811,463...21,830,577
|
|
G |
Dync2h1 |
dynein cytoplasmic 2 heavy chain 1 |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa |
ClinVar |
PMID:23456818 PMID:28492532 PMID:32753734 |
|
NCBI chrNW_004936551:4,584,438...4,913,829
Ensembl chrNW_004936551:4,584,438...4,913,825
|
|
G |
Edn1 |
endothelin 1 |
|
ISO |
protein:increased expression:plasma (human) |
RGD |
PMID:20005906 |
RGD:8661800 |
NCBI chrNW_004936534:885,489...892,292
Ensembl chrNW_004936534:885,287...891,772
|
|
G |
Emc1 |
ER membrane protein complex subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa |
ClinVar |
PMID:23105016 PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936474:5,512,100...5,539,198
Ensembl chrNW_004936474:5,511,661...5,539,237
|
|
G |
Eml3 |
EMAP like 3 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa |
ClinVar |
|
|
NCBI chrNW_004936581:644,841...654,539
Ensembl chrNW_004936581:644,841...654,538
|
|
G |
Epg5 |
ectopic P-granules 5 autophagy tethering factor |
|
ISO |
ClinVar Annotator: match by term: Syndromic retinitis pigmentosa |
ClinVar |
|
|
NCBI chrNW_004936517:841,402...941,054
Ensembl chrNW_004936517:841,411...939,581
|
|
G |
Fam161a |
FAM161 centrosomal protein A |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa |
ClinVar |
PMID:10507729 PMID:20705278 PMID:20705279 PMID:23167750 PMID:23591405 PMID:24520187 PMID:24651477 PMID:25007332 PMID:25097241 PMID:25525159 PMID:25741868 PMID:25999674 PMID:26113502 PMID:26355662 PMID:26574802 PMID:28041643 PMID:28492532 PMID:28945494 PMID:30718709 PMID:32531858 PMID:32581362 PMID:34906470 PMID:36909829 More...
|
|
NCBI chrNW_004936491:7,202,877...7,221,493
Ensembl chrNW_004936491:7,212,194...7,221,618
|
|
G |
Fgfr2 |
fibroblast growth factor receptor 2 |
treatment |
ISO |
|
RGD |
PMID:11319911 |
RGD:12801430 |
NCBI chrNW_004936486:10,506,680...10,606,272
Ensembl chrNW_004936486:10,507,097...10,602,019
|
|
G |
Flvcr1 |
FLVCR choline and heme transporter 1 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa |
ClinVar |
PMID:9536098 PMID:17576681 PMID:23591405 PMID:25741868 PMID:26467025 PMID:27353947 PMID:27923065 PMID:28492532 PMID:28766925 PMID:29192808 PMID:30356807 PMID:30656474 PMID:31884612 PMID:31963381 PMID:32037395 PMID:32531858 PMID:32984570 PMID:34906470 PMID:36909829 More...
|
|
NCBI chrNW_004936557:693,445...727,166
Ensembl chrNW_004936557:692,489...726,965
|
|
G |
Fscn2 |
fascin actin-bundling protein 2, retinal |
|
ISO |
|
RGD |
PMID:11527955 |
RGD:1598962 |
NCBI chrNW_004936594:5,184,133...5,195,340
Ensembl chrNW_004936594:5,184,628...5,191,985
|
|
G |
Fth1 |
ferritin heavy chain 1 |
|
ISO |
ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa |
ClinVar |
PMID:14615048 PMID:25741868 PMID:28492532 PMID:28687848 |
|
NCBI chrNW_004936581:1,118,905...1,120,592
|
|
G |
Gnat1 |
G protein subunit alpha transducin 1 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa |
ClinVar |
PMID:25741868 PMID:28492532 PMID:30718709 PMID:34906470 |
|
NCBI chrNW_004936529:1,735,258...1,740,297
Ensembl chrNW_004936529:1,735,440...1,742,567
|
|
G |
Gphn |
gephyrin |
|
ISO |
ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa |
ClinVar |
PMID:15258582 PMID:15322982 PMID:16269441 PMID:17389517 PMID:17512964 PMID:17964524 PMID:18779497 PMID:19011012 PMID:19140180 PMID:19956407 PMID:20301475 PMID:20683928 PMID:20736127 PMID:21151602 PMID:22065924 PMID:23591405 PMID:23847139 PMID:23900199 PMID:24265693 PMID:24474277 PMID:24625443 PMID:24752437 PMID:25412400 PMID:25494902 PMID:25741868 PMID:26047050 PMID:26103963 PMID:26261414 PMID:26306921 PMID:26355662 PMID:26667666 PMID:27032803 PMID:27809489 PMID:28041643 PMID:28492532 PMID:28559085 PMID:30134391 PMID:30372751 PMID:30718709 PMID:30902645 PMID:30979730 PMID:31054281 PMID:31456290 PMID:32014858 PMID:32141364 PMID:32322264 PMID:32790509 PMID:34001834 PMID:34448047 PMID:35006499 PMID:36909829 More...
|
|
NCBI chrNW_004936495:9,970,683...10,565,467
Ensembl chrNW_004936495:9,972,007...10,564,591
|
|
G |
Gpr179 |
G protein-coupled receptor 179 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa |
ClinVar |
PMID:28492532 PMID:30718709 |
|
NCBI chrNW_004936490:13,801,514...13,818,666
Ensembl chrNW_004936490:13,803,303...13,818,533
|
|
G |
Grin2b |
glutamate ionotropic receptor NMDA type subunit 2B |
|
ISO |
protein:decreased expression:outer plexiform layer of retina (rat) |
RGD |
PMID:11925013 |
RGD:13432034 |
NCBI chrNW_004936587:3,406,055...3,806,956
Ensembl chrNW_004936587:3,405,698...3,804,664
|
|
G |
Guca1a |
guanylate cyclase activator 1A |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa |
ClinVar |
PMID:9425234 PMID:9651312 PMID:9702199 PMID:15505030 PMID:15953638 PMID:25741868 PMID:28041643 PMID:28492532 PMID:32025184 More...
|
|
NCBI chrNW_004936476:17,690,484...17,701,288
Ensembl chrNW_004936476:17,691,045...17,701,859
|
|
G |
Guca1b |
guanylate cyclase activator 1B |
|
ISO |
ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa |
ClinVar |
PMID:15452722 PMID:15505030 PMID:22025579 PMID:25741868 PMID:26161267 PMID:28492532 PMID:33812995 More...
|
|
NCBI chrNW_004936476:17,679,505...17,688,970
Ensembl chrNW_004936476:17,679,500...17,691,037
|
|
G |
Gucy2d |
guanylate cyclase 2D, retinal |
susceptibility |
ISO |
DNA:mutation:exon ClinVar Annotator: match by term: Retinitis pigmentosa |
RGD ClinVar |
PMID:10676808 PMID:10951519 PMID:11115851 PMID:11328726 PMID:11565546 PMID:12552567 PMID:16199547 PMID:24875811 PMID:25741868 PMID:26298565 PMID:28041643 PMID:28492532 PMID:30718709 PMID:33546218 PMID:34906470 PMID:36909829 More...
|
RGD:1599624 |
NCBI chrNW_004936595:1,235,747...1,250,294
Ensembl chrNW_004936595:1,235,711...1,250,354
|
|
G |
Hgf |
hepatocyte growth factor |
|
ISO |
protein:increased expression:vitreous humor: |
RGD |
PMID:20053975 |
RGD:8548602 |
NCBI chrNW_004936734:354,798...428,356
Ensembl chrNW_004936734:356,115...428,779
|
|
G |
Hgsnat |
heparan-alpha-glucosaminide N-acetyltransferase |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa |
ClinVar |
PMID:17033958 PMID:19479962 PMID:19823584 PMID:20583299 PMID:25741868 PMID:25859010 PMID:27608171 PMID:28041643 PMID:28492532 PMID:28981474 PMID:31228227 PMID:31456290 PMID:32581362 PMID:32770643 PMID:33576794 PMID:33578874 PMID:33851411 PMID:34326763 PMID:34580245 PMID:34795310 PMID:34906470 More...
|
|
NCBI chrNW_004936570:257,636...297,797
Ensembl chrNW_004936570:258,820...297,762
|
|
G |
Hk1 |
hexokinase 1 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa |
ClinVar |
PMID:25741868 PMID:28492532 PMID:30778173 |
|
NCBI chrNW_004936521:9,067,062...9,139,112
Ensembl chrNW_004936521:9,066,999...9,159,793
|
|
G |
Idh3a |
isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa |
ClinVar |
PMID:25741868 PMID:28058510 PMID:28412069 PMID:28492532 PMID:31456290 PMID:34906470 More...
|
|
NCBI chrNW_004936471:36,823,003...36,842,576
Ensembl chrNW_004936471:36,822,971...36,842,610
|
|
G |
Idh3b |
isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa |
ClinVar |
PMID:16199547 PMID:18806796 PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936485:16,033,287...16,038,097
Ensembl chrNW_004936485:16,033,128...16,042,821
|
|
G |
Ift140 |
intraflagellar transport 140 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa |
ClinVar |
PMID:16199547 PMID:22503633 PMID:23418020 PMID:24009529 PMID:25741868 PMID:26216056 PMID:26497376 PMID:26766544 PMID:26968735 PMID:28041643 PMID:28492532 PMID:28559085 PMID:29068549 PMID:29688594 PMID:30479745 PMID:31213501 PMID:31456290 PMID:31630094 PMID:31736247 PMID:31980526 PMID:32531858 PMID:33452237 PMID:34429528 PMID:34890546 PMID:34906470 More...
|
|
NCBI chrNW_004936694:2,344,448...2,419,396
Ensembl chrNW_004936694:2,344,283...2,423,520
|
|
G |
Ift172 |
intraflagellar transport 172 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa |
ClinVar |
PMID:11030072 PMID:24140113 PMID:25664603 PMID:25741868 PMID:28492532 PMID:34906470 More...
|
|
NCBI chrNW_004936493:5,108,437...5,145,160
Ensembl chrNW_004936493:5,108,437...5,145,160
|
|
G |
Impdh1 |
inosine monophosphate dehydrogenase 1 |
|
ISO |
ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa |
ClinVar |
PMID:14981049 PMID:16199547 PMID:20045992 PMID:20718729 PMID:24244438 PMID:25698705 PMID:25741868 PMID:28166811 PMID:28492532 PMID:30718709 PMID:32531858 PMID:33090715 More...
|
|
NCBI chrNW_004936479:15,523,342...15,540,229
Ensembl chrNW_004936479:15,523,037...15,540,173
|
|
G |
Impg1 |
interphotoreceptor matrix proteoglycan 1 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa |
ClinVar |
PMID:16199547 PMID:23993198 PMID:25741868 PMID:28492532 PMID:32817297 PMID:36909829 More...
|
|
NCBI chrNW_004936788:1,258,547...1,401,910
Ensembl chrNW_004936788:1,268,614...1,401,998
|
|
G |
Impg2 |
interphotoreceptor matrix proteoglycan 2 |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa |
ClinVar |
PMID:9536098 PMID:17576681 PMID:20673862 PMID:22277662 PMID:24876279 PMID:24938718 PMID:25085631 PMID:25741868 PMID:25741915 PMID:25999674 PMID:26355662 PMID:26667666 PMID:28041643 PMID:28492532 PMID:30054919 PMID:30718709 PMID:31264916 PMID:32531858 PMID:36909829 More...
|
|
NCBI chrNW_004936630:1,982,860...2,069,472
Ensembl chrNW_004936630:1,982,783...2,071,953
|
|
G |
Iqcb1 |
IQ motif containing B1 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa |
ClinVar |
PMID:22261762 PMID:22773737 PMID:25741868 PMID:28492532 PMID:30718709 |
|
NCBI chrNW_004936536:8,164,120...8,213,690
Ensembl chrNW_004936536:8,163,554...8,213,708
|
|
G |
Itga4 |
integrin subunit alpha 4 |
|
ISO |
ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa |
ClinVar |
PMID:25741868 PMID:28041643 PMID:28492532 |
|
NCBI chrNW_004936509:10,215,283...10,293,653
Ensembl chrNW_004936509:10,215,283...10,292,252
|
|
G |
Itprid2 |
ITPR interacting domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa |
ClinVar |
PMID:28041643 |
|
NCBI chrNW_004936509:10,606,449...10,645,231
Ensembl chrNW_004936509:10,606,443...10,645,230
|
|
G |
Kiaa1549 |
KIAA1549 ortholog |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936592:3,132,166...3,215,835
Ensembl chrNW_004936592:3,132,703...3,275,199
|
|
G |
Kif11 |
kinesin family member 11 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Syndromic retinitis pigmentosa |
ClinVar |
PMID:25741868 PMID:32214227 PMID:34906470 |
|
NCBI chrNW_004936601:2,163,316...2,213,674
Ensembl chrNW_004936601:2,163,795...2,213,588
|
|
G |
Kiz |
kizuna centrosomal protein |
|
ISO |
ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa |
ClinVar |
PMID:24680887 PMID:25741868 PMID:28166811 PMID:28492532 PMID:28837078 PMID:29057815 PMID:31370859 PMID:31556760 PMID:32052671 PMID:32531858 More...
|
|
NCBI chrNW_004936620:4,188,350...4,310,708
Ensembl chrNW_004936620:4,185,898...4,310,738
|
|
G |
Kl |
klotho |
|
ISO |
protein:increased expression:retina,photoreceptor,nucleus: |
RGD |
PMID:23796581 |
RGD:10403060 |
NCBI chrNW_004936472:27,604,681...27,649,613
Ensembl chrNW_004936472:27,604,517...27,650,086
|
|
G |
Klb |
klotho beta |
|
ISO |
protein:increased expression:outer nuclear layer: |
RGD |
PMID:23796581 |
RGD:10403060 |
NCBI chrNW_004936482:7,026,871...7,060,495
Ensembl chrNW_004936482:7,026,871...7,059,848
|
|
G |
Klhl7 |
kelch like family member 7 |
|
ISO |
ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration |
ClinVar |
PMID:19520207 PMID:21828050 PMID:25741868 PMID:27160483 PMID:28041643 PMID:28492532 PMID:31856884 PMID:32581362 PMID:34906470 More...
|
|
NCBI chrNW_004936478:279,580...337,655
Ensembl chrNW_004936478:279,067...337,752
|
|
G |
Krtcap3 |
keratinocyte associated protein 3 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa |
ClinVar |
PMID:11030072 PMID:24140113 PMID:25664603 PMID:25741868 PMID:28492532 PMID:34906470 More...
|
|
NCBI chrNW_004936493:5,145,237...5,146,904
Ensembl chrNW_004936493:5,142,970...5,146,778
|
|
G |
Large1 |
LARGE xylosyl- and glucuronyltransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa |
ClinVar |
|
|
NCBI chrNW_004936492:6,160,979...6,657,491
Ensembl chrNW_004936492:6,289,517...6,659,465
|
|
G |
Lca5 |
lebercilin LCA5 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa |
ClinVar |
PMID:17546029 PMID:23946133 PMID:24265693 PMID:25741868 PMID:28492532 PMID:32531858 PMID:33776059 PMID:34906470 More...
|
|
NCBI chrNW_004936510:10,652,378...10,702,761
Ensembl chrNW_004936510:10,671,297...10,703,618
|
|
G |
LOC101960714 |
cone-rod homeobox protein |
|
ISO |
ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration ClinVar Annotator: match by term: Autosomal dominant retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar Annotator: match by term: Autosomal dominant retinitis pigmentosa | ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa |
ClinVar |
PMID:9427255 PMID:9792858 PMID:10766140 PMID:10916183 PMID:11139241 PMID:11748859 PMID:16123401 PMID:17964524 PMID:18682808 PMID:20513135 PMID:22960069 PMID:22968130 PMID:23049240 PMID:24265693 PMID:25270190 PMID:25741868 PMID:26355662 PMID:27624628 PMID:28041643 PMID:28492532 PMID:30460480 PMID:30543658 PMID:30718709 PMID:31626798 PMID:32531858 PMID:33090715 PMID:36909829 More...
|
|
NCBI chrNW_004936664:1,408,618...1,419,096
Ensembl chrNW_004936664:1,409,229...1,419,234
|
|
G |
LOC101963575 |
eyes shut homolog |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Syndromic retinitis pigmentosa ClinVar Annotator: match by term: Autosomal dominant retinitis pigmentosa | ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant/Recessive | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Syndromic retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration |
ClinVar |
PMID:287049 PMID:2033377 PMID:9536098 PMID:9585594 PMID:16199547 PMID:17156103 PMID:17576681 PMID:18836446 PMID:18976725 PMID:18976726 PMID:20237254 PMID:20333770 PMID:20333771 PMID:20375346 PMID:20537394 PMID:21069908 PMID:21179430 PMID:21217109 PMID:21519034 PMID:22164218 PMID:22277662 PMID:22302105 PMID:22334370 PMID:22363543 PMID:22581970 PMID:23105016 PMID:23421333 PMID:23591405 PMID:24033266 PMID:24265693 PMID:24474277 PMID:24618324 PMID:24652164 PMID:24670872 PMID:24938718 PMID:25096270 PMID:25097241 PMID:25133751 PMID:25268133 PMID:25324289 PMID:25356976 PMID:25366773 PMID:25412400 PMID:25491159 PMID:25692139 PMID:25741868 PMID:25753737 PMID:26103963 PMID:26155838 PMID:26161267 PMID:26261414 PMID:26355662 PMID:26593283 PMID:26667666 PMID:26787102 PMID:26806561 PMID:26872967 PMID:27208204 PMID:27353947 PMID:27375351 PMID:27658286 PMID:27735924 PMID:28041643 PMID:28166811 PMID:28224992 PMID:28418496 PMID:28419563 PMID:28492532 PMID:28704921 PMID:28763560 PMID:28838317 PMID:29068140 PMID:29074561 PMID:29159838 PMID:29550188 PMID:29625443 PMID:29641573 PMID:29785639 PMID:30153090 PMID:30337596 PMID:30487145 PMID:30513137 PMID:30543658 PMID:30718709 PMID:30804660 PMID:31054281 PMID:31074760 PMID:31087526 PMID:31106028 PMID:31213501 PMID:31456290 PMID:31725169 PMID:31814702 PMID:31872526 PMID:31960602 PMID:31964843 PMID:32000842 PMID:32037395 PMID:32218477 PMID:32483926 PMID:32531858 PMID:32552793 PMID:32581362 PMID:32675063 PMID:32728228 PMID:33090715 PMID:33247286 PMID:33514863 PMID:33576794 PMID:33691693 PMID:33749171 PMID:33833316 PMID:33946315 PMID:34178978 PMID:34689181 PMID:34721897 PMID:34906470 PMID:35672425 PMID:35836572 PMID:36259723 PMID:36284460 PMID:36460718 PMID:36464167 PMID:36764454 PMID:36819107 PMID:36909829 More...
|
|
NCBI chrNW_004936476:158,391...1,289,639
|
|
G |
LOC101967774 |
cytochrome P450 4V2 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa |
ClinVar |
PMID:24480711 PMID:28041643 PMID:28051075 PMID:28492532 PMID:33090715 |
|
NCBI chrNW_004936554:3,272,139...3,293,288
Ensembl chrNW_004936554:3,272,073...3,293,564
|
|
G |
LOC101969963 |
cadherin-23 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa |
ClinVar |
PMID:18429043 PMID:21228398 PMID:21569298 PMID:22135276 PMID:22995991 PMID:24033266 PMID:24416283 PMID:25474345 PMID:25741868 PMID:28492532 PMID:30029624 PMID:30718709 More...
|
|
NCBI chrNW_004936521:7,078,874...7,285,361
Ensembl chrNW_004936521:7,010,360...7,340,842
|
|
G |
Lrat |
lecithin retinol acyltransferase |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa |
ClinVar |
PMID:22025579 PMID:25324289 PMID:25741868 PMID:26355662 PMID:28492532 PMID:29844330 PMID:30054919 PMID:30190494 PMID:30718709 More...
|
|
NCBI chrNW_004936576:1,491,480...1,498,568
Ensembl chrNW_004936576:1,492,297...1,501,917
|
|
G |
Mak |
male germ cell associated kinase |
|
ISO |
ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa |
ClinVar |
PMID:16199547 PMID:21148103 PMID:21825139 PMID:21835304 PMID:24938718 PMID:25324289 PMID:25385675 PMID:25741868 PMID:28492532 PMID:28559085 PMID:29103961 PMID:29781741 PMID:30718709 PMID:31456290 PMID:33576794 More...
|
|
NCBI chrNW_004936534:2,170,853...2,239,647
Ensembl chrNW_004936534:2,170,794...2,224,065
|
|
G |
Mertk |
MER proto-oncogene, tyrosine kinase |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa |
ClinVar |
PMID:9536098 PMID:11062461 PMID:11592982 PMID:15111602 PMID:16199547 PMID:16714263 PMID:17301963 PMID:17576681 PMID:19956407 PMID:20300561 PMID:22180149 PMID:22939401 PMID:24265693 PMID:24625443 PMID:24938718 PMID:25097241 PMID:25324289 PMID:25741868 PMID:25741905 PMID:25741913 PMID:25741914 PMID:26263531 PMID:26355662 PMID:26700204 PMID:27208204 PMID:28041643 PMID:28492532 PMID:28559085 PMID:29068140 PMID:29659094 PMID:30054919 PMID:30718709 PMID:31054281 PMID:31725702 PMID:32036094 PMID:33353011 PMID:34906470 PMID:36909829 More...
|
|
NCBI chrNW_004936783:607,425...704,879
Ensembl chrNW_004936783:607,382...704,889
|
|
G |
Mfrp |
membrane frizzled-related protein |
|
ISO |
DNA:deletio:exon:c.498delC(P.166PfsX26)(human) |
RGD |
PMID:22605927 |
RGD:11553921 |
NCBI chrNW_004936542:4,272,250...4,277,231
Ensembl chrNW_004936542:4,272,264...4,277,252
|
|
G |
Mfsd8 |
major facilitator superfamily domain containing 8 |
|
ISO |
ClinVar Annotator: match by term: Tapetoretinal degeneration |
ClinVar |
PMID:25333361 PMID:25741868 PMID:28041643 PMID:28492532 PMID:28586915 PMID:31006324 PMID:32037395 PMID:32581362 More...
|
|
NCBI chrNW_004936642:2,745,889...2,833,286
Ensembl chrNW_004936642:2,801,908...2,832,830
|
|
G |
Mks1 |
MKS transition zone complex subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa |
ClinVar |
PMID:30718709 |
|
NCBI chrNW_004936490:4,865,243...4,876,601
Ensembl chrNW_004936490:4,865,243...4,878,912
|
|
G |
Myo7a |
myosin VIIA |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa |
ClinVar |
PMID:8900236 PMID:10094549 PMID:19074810 PMID:24033266 PMID:25404053 PMID:25741868 PMID:27957503 PMID:28492532 PMID:30303587 PMID:30311386 PMID:30718709 More...
|
|
NCBI chrNW_004936498:5,758,572...5,824,526
Ensembl chrNW_004936498:5,751,779...5,824,378
|
|
G |
Neurod1 |
neuronal differentiation 1 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa |
ClinVar |
PMID:28041643 |
|
NCBI chrNW_004936509:10,421,821...10,425,927
Ensembl chrNW_004936509:10,423,126...10,424,196
|
|
G |
Ngf |
nerve growth factor |
|
ISO |
protein:decreased expression:lacrimal gland |
RGD |
PMID:20595895 |
RGD:4891133 |
NCBI chrNW_004936627:635,784...641,290
Ensembl chrNW_004936627:635,788...645,364
|
|
G |
Nphp4 |
nephrocystin 4 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa |
ClinVar |
PMID:25741868 PMID:34906470 |
|
NCBI chrNW_004936623:802,152...904,198
|
|
G |
Nr2e3 |
nuclear receptor subfamily 2 group E member 3 |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa |
ClinVar |
PMID:9536098 PMID:10655056 PMID:11071390 PMID:11773633 PMID:12963616 PMID:15453866 PMID:15459973 PMID:15689355 PMID:16024868 PMID:16199547 PMID:16225923 PMID:17438525 PMID:17564971 PMID:17576681 PMID:17982421 PMID:18294254 PMID:18436841 PMID:18835469 PMID:19006237 PMID:19139342 PMID:19273793 PMID:19718767 PMID:19823680 PMID:19898638 PMID:19933183 PMID:21217109 PMID:21364904 PMID:22711506 PMID:23039133 PMID:23105016 PMID:23374571 PMID:23591405 PMID:23989059 PMID:24033266 PMID:24069298 PMID:24339724 PMID:24474277 PMID:25079116 PMID:25097241 PMID:25326637 PMID:25703721 PMID:25741868 PMID:26355662 PMID:26667666 PMID:26894784 PMID:26910043 PMID:27013732 PMID:27032803 PMID:27522502 PMID:27573156 PMID:27874104 PMID:28041643 PMID:28224992 PMID:28300834 PMID:28418496 PMID:28492532 PMID:28541266 PMID:28559085 PMID:28771251 PMID:28944237 PMID:28981474 PMID:29193891 PMID:29343940 PMID:29431110 PMID:30054919 PMID:30324420 PMID:30718709 PMID:31054281 PMID:32037395 PMID:32679203 PMID:32901917 PMID:33138239 PMID:34906470 PMID:36909829 More...
|
|
NCBI chrNW_004936471:31,229,322...31,236,093
Ensembl chrNW_004936471:31,229,564...31,235,654
|
|
G |
Nrl |
neural retina leucine zipper |
|
ISO |
ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa |
ClinVar |
PMID:15591106 PMID:17335001 PMID:23534816 PMID:25741868 PMID:27081294 PMID:27624628 PMID:28492532 PMID:29385733 PMID:34906470 PMID:35693422 More...
|
|
NCBI chrNW_004936722:448,006...454,064
Ensembl chrNW_004936722:447,967...454,553
|
|
G |
Nyx |
nyctalopin |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936502:7,890,582...7,909,157
Ensembl chrNW_004936502:7,890,535...7,910,986
|
|
G |
Ofd1 |
OFD1 centriole and centriolar satellite protein |
|
ISO |
DNA, mRNA:frameshift mutation, splice variant:IVS9+706A>G (human) |
RGD |
PMID:22619378 |
RGD:11535961 |
NCBI chrNW_004936470:3,292,961...3,331,915
Ensembl chrNW_004936470:3,292,249...3,331,800
|
|
G |
Opa1 |
OPA1 mitochondrial dynamin like GTPase |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936711:1,027,531...1,113,796
Ensembl chrNW_004936711:1,032,935...1,106,847
|
|
G |
P3h2 |
prolyl 3-hydroxylase 2 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa |
ClinVar |
PMID:24172257 PMID:25469533 PMID:25741868 PMID:28492532 PMID:31456290 |
|
NCBI chrNW_004936578:268,815...431,123
Ensembl chrNW_004936578:268,856...431,137
|
|
G |
Pank2 |
pantothenate kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa |
ClinVar |
PMID:11479594 PMID:12510040 PMID:15659606 PMID:15834858 PMID:16272150 PMID:16450344 PMID:22221393 PMID:22416811 PMID:23968566 PMID:24075960 PMID:24215330 PMID:24348190 PMID:25741868 PMID:26497376 PMID:26795593 PMID:28492532 PMID:28708303 PMID:29590070 PMID:32456086 More...
|
|
NCBI chrNW_004936485:14,785,050...14,804,258
Ensembl chrNW_004936485:14,785,467...14,811,117
|
|
G |
Pcare |
photoreceptor cilium actin regulator |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Pigmentary retinopathy | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa |
ClinVar |
PMID:20398884 PMID:20398886 PMID:20811058 PMID:21412943 PMID:23105016 PMID:24339724 PMID:24780881 PMID:25741868 PMID:26306921 PMID:26496393 PMID:26497376 PMID:27353947 PMID:28041643 PMID:28492532 PMID:28763557 PMID:30054919 PMID:30718709 PMID:31725702 PMID:33546218 PMID:34906470 More...
|
|
NCBI chrNW_004936493:3,768,032...3,781,511
Ensembl chrNW_004936493:3,768,688...3,777,634
|
|
G |
Pcdh15 |
protocadherin related 15 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa |
ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:30718709 |
|
NCBI chrNW_004936910:233,800...602,145
Ensembl chrNW_004936910:141,917...602,089
|
|
G |
Pde6a |
phosphodiesterase 6A |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa |
ClinVar |
PMID:7493036 PMID:10393062 PMID:16199547 PMID:17110911 PMID:18723146 PMID:21147909 PMID:21151602 PMID:22128245 PMID:23105016 PMID:23134348 PMID:23847139 PMID:24265693 PMID:24339724 PMID:24416769 PMID:24512775 PMID:25182519 PMID:25741868 PMID:25775262 PMID:25999674 PMID:26188004 PMID:26306921 PMID:26806561 PMID:26868535 PMID:27208204 PMID:27551530 PMID:27820873 PMID:27917291 PMID:28041643 PMID:28492532 PMID:29118501 PMID:29343940 PMID:29693493 PMID:30029497 PMID:30337596 PMID:30619975 PMID:30718709 PMID:30998820 PMID:31213501 PMID:31736247 PMID:33057649 PMID:33090715 PMID:34906470 PMID:35533076 PMID:36819107 PMID:36909829 More...
|
|
NCBI chrNW_004936504:5,018,171...5,088,333
Ensembl chrNW_004936504:5,018,064...5,092,024
|
|
G |
Pde6b |
phosphodiesterase 6B |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration ClinVar Annotator: match by term: Autosomal dominant retinitis pigmentosa | ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa |
ClinVar |
PMID:3203739 PMID:7724547 PMID:8394174 PMID:8595886 PMID:9238087 PMID:9536098 PMID:9543643 PMID:10234513 PMID:12525556 PMID:16199547 PMID:17267005 PMID:17576681 PMID:18854872 PMID:20591486 PMID:22334370 PMID:23105016 PMID:24033266 PMID:24265693 PMID:24339724 PMID:24625443 PMID:24828262 PMID:24938718 PMID:25097241 PMID:25324289 PMID:25356976 PMID:25472526 PMID:25525159 PMID:25741868 PMID:25823529 PMID:25827439 PMID:25999674 PMID:26155838 PMID:26355662 PMID:26497376 PMID:26667666 PMID:26766544 PMID:27208204 PMID:27588261 PMID:27596865 PMID:27874104 PMID:28041643 PMID:28130426 PMID:28224992 PMID:28492532 PMID:28559085 PMID:28912962 PMID:28981474 PMID:29472945 PMID:29785639 PMID:30029497 PMID:30054919 PMID:30646425 PMID:30718709 PMID:30820151 PMID:30998820 PMID:31456290 PMID:31630094 PMID:32531858 PMID:33090715 PMID:33576794 PMID:33673512 PMID:34906470 PMID:35272565 PMID:35836572 PMID:36460718 PMID:36819107 PMID:36909829 More...
|
|
NCBI chrNW_004936477:22,418,037...22,472,251
Ensembl chrNW_004936477:22,417,453...22,472,185
|
|
G |
Pde6g |
phosphodiesterase 6G |
|
ISO |
ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa |
ClinVar |
PMID:20655036 PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936594:5,263,345...5,267,240
Ensembl chrNW_004936594:5,263,333...5,267,476
|
|
G |
Phf3 |
PHD finger protein 3 |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa |
ClinVar |
PMID:18976725 PMID:20237254 PMID:20333770 PMID:20537394 PMID:21069908 PMID:21179430 PMID:22302105 PMID:22363543 PMID:22581970 PMID:24033266 PMID:24474277 PMID:24652164 PMID:24938718 PMID:25097241 PMID:25133751 PMID:25324289 PMID:25356976 PMID:25366773 PMID:25741868 PMID:26161267 PMID:26261414 PMID:26667666 PMID:26787102 PMID:26872967 PMID:27208204 PMID:27658286 PMID:28041643 PMID:28492532 PMID:29068140 PMID:29159838 PMID:29550188 PMID:30337596 PMID:30543658 PMID:30718709 PMID:30804660 PMID:31054281 PMID:31074760 PMID:31087526 PMID:31213501 PMID:31456290 PMID:31725169 PMID:31814702 PMID:31960602 PMID:32037395 PMID:32531858 PMID:32675063 PMID:32728228 PMID:33247286 PMID:33576794 PMID:33691693 PMID:33749171 PMID:33833316 PMID:34178978 PMID:34689181 PMID:34906470 PMID:35672425 PMID:36764454 More...
|
|
NCBI chrNW_004936476:1,295,697...1,380,608
Ensembl chrNW_004936476:1,296,423...1,368,411
|
|
G |
Pitpnm3 |
PITPNM family member 3 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa |
ClinVar |
PMID:8586428 PMID:17377520 PMID:22405330 PMID:25472526 PMID:25741868 PMID:27160483 PMID:28492532 PMID:30718709 More...
|
|
NCBI chrNW_004936677:1,451,974...1,528,864
Ensembl chrNW_004936677:1,430,391...1,529,484
|
|
G |
Poc5 |
POC5 centriolar protein |
|
ISO |
ClinVar Annotator: match by term: Syndromic retinitis pigmentosa |
ClinVar |
PMID:29272404 |
|
NCBI chrNW_004936549:1,065,495...1,111,642
Ensembl chrNW_004936549:1,065,475...1,114,496
|
|
G |
Ppt1 |
palmitoyl-protein thioesterase 1 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa |
ClinVar |
PMID:9425237 PMID:9664077 PMID:10191107 PMID:10477428 PMID:10649502 PMID:11073228 PMID:11440996 PMID:11520175 PMID:12796825 PMID:15464427 PMID:19302939 PMID:21499717 PMID:22387303 PMID:23374165 PMID:23539563 PMID:25741868 PMID:26510000 PMID:28492532 PMID:28559085 PMID:28878621 PMID:30541466 PMID:31741823 PMID:34906470 More...
|
|
NCBI chrNW_004936474:21,881,692...21,906,564
Ensembl chrNW_004936474:21,881,712...21,906,569
|
|
G |
Prcd |
photoreceptor disc component |
|
ISO |
ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa |
ClinVar |
PMID:9536098 PMID:16199547 PMID:16938425 PMID:17576681 PMID:20507925 PMID:23661369 PMID:23805042 PMID:25741868 PMID:26806561 PMID:28181551 PMID:28492532 PMID:29785639 PMID:32036094 PMID:36909829 More...
|
|
NCBI chrNW_004936594:1,615,165...1,628,455
Ensembl chrNW_004936594:1,616,794...1,619,049
|
|
G |
Prkcg |
protein kinase C gamma |
|
ISO |
|
RGD |
PMID:9545390 |
RGD:737791 |
NCBI chrNW_004936994:87,525...105,125
Ensembl chrNW_004936994:87,519...105,134
|
|
G |
Prom1 |
prominin 1 |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration |
ClinVar |
PMID:9634506 PMID:10205271 PMID:12657606 PMID:12659814 PMID:15665353 PMID:16199547 PMID:17605048 PMID:18654668 PMID:19718270 PMID:20393116 PMID:20859302 PMID:22183351 PMID:22581970 PMID:23105016 PMID:23757202 PMID:24154662 PMID:24265693 PMID:24938718 PMID:25356976 PMID:25474345 PMID:25741868 PMID:25910913 PMID:25999674 PMID:26103963 PMID:26161267 PMID:26261540 PMID:26355662 PMID:26393467 PMID:26872967 PMID:27874104 PMID:28041643 PMID:28095140 PMID:28492532 PMID:28559085 PMID:29186038 PMID:29847639 PMID:30215852 PMID:30588538 PMID:30718709 PMID:32581362 PMID:32820593 PMID:34906470 PMID:35947379 PMID:36909829 More...
|
|
NCBI chrNW_004936477:11,878,261...12,017,228
Ensembl chrNW_004936477:11,878,012...12,018,177
|
|
G |
Prpf3 |
pre-mRNA processing factor 3 |
|
ISO |
ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa |
ClinVar |
PMID:11773002 PMID:15085354 PMID:17932117 PMID:20309403 PMID:20811066 PMID:25741868 PMID:28492532 PMID:28559085 PMID:34906470 More...
|
|
NCBI chrNW_004936580:604,709...632,788
Ensembl chrNW_004936580:605,138...633,104
|
|
G |
Prpf31 |
pre-mRNA processing factor 31 |
|
ISO |
ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa |
ClinVar |
PMID:3071870 PMID:16199547 PMID:16799052 PMID:18317597 PMID:19506198 PMID:23288994 PMID:23950152 PMID:25324289 PMID:25741868 PMID:28041643 PMID:28166811 PMID:28492532 PMID:28512305 PMID:29260190 PMID:29847639 PMID:30337596 PMID:30582903 PMID:30718709 PMID:30921587 PMID:31814694 PMID:33090715 PMID:33095315 PMID:34906470 PMID:36909829 More...
|
|
NCBI chrNW_004936994:239,688...252,269
Ensembl chrNW_004936994:239,682...252,317
|
|
G |
Prpf6 |
pre-mRNA processing factor 6 |
|
ISO |
ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936514:11,175,410...11,220,928
Ensembl chrNW_004936514:11,175,526...11,220,241
|
|
G |
Prpf8 |
pre-mRNA processing factor 8 |
|
ISO |
ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa |
ClinVar |
PMID:9536098 PMID:11468273 PMID:12714658 PMID:16799052 PMID:17576681 PMID:21378395 PMID:24938718 PMID:25741868 PMID:28041643 PMID:28492532 PMID:28515276 PMID:30718709 PMID:31725702 PMID:32531858 PMID:34906470 PMID:36909829 More...
|
|
NCBI chrNW_004936538:7,780,022...7,814,575
Ensembl chrNW_004936538:7,780,022...7,814,575
|
|
G |
Prph2 |
peripherin 2 |
|
ISO |
ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Pigmentary retinopathy | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa |
ClinVar |
PMID:1427912 PMID:1684223 PMID:7493155 PMID:7754251 PMID:8015786 PMID:8019570 PMID:8058286 PMID:8111389 PMID:8202715 PMID:8302543 PMID:8449524 PMID:8485575 PMID:8485576 PMID:8644804 PMID:8675410 PMID:8747448 PMID:8943002 PMID:8994365 PMID:9010868 PMID:9279751 PMID:9331261 PMID:9338584 PMID:9361310 PMID:9443872 PMID:9536098 PMID:9673478 PMID:10193525 PMID:10532447 PMID:10747861 PMID:10800708 PMID:10862101 PMID:11139241 PMID:11139263 PMID:11297544 PMID:11427722 PMID:11704030 PMID:11801511 PMID:11853584 PMID:12045052 PMID:12925772 PMID:14510799 PMID:15370544 PMID:16019073 PMID:16024869 PMID:16113362 PMID:16767206 PMID:16799052 PMID:16885924 PMID:16916875 PMID:17504850 PMID:17576681 PMID:17653047 PMID:17698758 PMID:18050133 PMID:18310263 PMID:19038374 PMID:19243827 PMID:19262438 PMID:20213611 PMID:20640437 PMID:21071739 PMID:21269699 PMID:22003107 PMID:22334370 PMID:22466463 PMID:22581970 PMID:22842402 PMID:22863181 PMID:23591405 PMID:23847139 PMID:23950152 PMID:24463884 PMID:24608669 PMID:24629188 PMID:24938718 PMID:25001182 PMID:25082885 PMID:25097241 PMID:25268133 PMID:25324289 PMID:25412400 PMID:25447119 PMID:25474345 PMID:25494902 PMID:25675413 PMID:25741868 PMID:25803555 PMID:25999674 PMID:26061163 PMID:26103963 PMID:26161267 PMID:26667666 PMID:26720483 PMID:26796962 PMID:26842753 PMID:27208204 PMID:27365499 PMID:27813578 PMID:27884173 PMID:28041643 PMID:28076437 PMID:28224992 PMID:28492530 PMID:28492532 PMID:28559085 PMID:28761320 PMID:28838317 PMID:29155698 PMID:29276052 PMID:29343940 PMID:29555955 PMID:29847639 PMID:30215852 PMID:30217183 PMID:30718709 PMID:30822235 PMID:30924848 PMID:31213501 PMID:31429209 PMID:31456290 PMID:31574917 PMID:31877679 PMID:32531846 PMID:32660024 PMID:32717343 PMID:33546218 PMID:33576794 PMID:33691693 PMID:34240658 PMID:34906036 PMID:34906470 More...
|
|
NCBI chrNW_004936476:17,159,756...17,174,226
Ensembl chrNW_004936476:17,160,016...17,173,981
|
|
G |
Prps1 |
phosphoribosyl pyrophosphate synthetase 1 |
|
ISO |
DNA:missense mutation:exon:p.S16P (human) |
RGD |
PMID:25491489 |
RGD:11056008 |
NCBI chrNW_004936499:7,114,838...7,136,468
Ensembl chrNW_004936499:7,115,780...7,136,449
|
|
G |
Pten |
phosphatase and tensin homolog |
onset |
ISO |
mRNA:increased expression:retina (rat) |
RGD |
PMID:22432009 |
RGD:12802340 |
NCBI chrNW_004936735:1,252,414...1,338,318
Ensembl chrNW_004936735:1,252,414...1,338,323
|
|
G |
Rab28 |
RAB28, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa |
ClinVar |
PMID:30718709 |
|
NCBI chrNW_004936477:14,066,063...14,140,310
|
|
G |
Rbp3 |
retinol binding protein 3 |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration |
ClinVar |
PMID:9614228 PMID:19074801 PMID:21067480 PMID:23105016 PMID:24963161 PMID:25741868 PMID:25766589 PMID:27829784 PMID:28492532 PMID:28512305 PMID:33629268 More...
|
|
NCBI chrNW_004936554:7,329,155...7,340,434
Ensembl chrNW_004936554:7,329,028...7,338,074
|
|
G |
Rcbtb1 |
RCC1 and BTB domain containing protein 1 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa |
ClinVar |
PMID:27486781 PMID:28492532 |
|
NCBI chrNW_004936565:2,608,788...2,649,992
Ensembl chrNW_004936565:2,608,792...2,650,604
|
|
G |
Rdh12 |
retinol dehydrogenase 12 |
|
ISO |
ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa |
ClinVar |
PMID:15258582 PMID:15322982 PMID:16269441 PMID:17389517 PMID:17512964 PMID:17964524 PMID:18779497 PMID:19011012 PMID:19140180 PMID:19956407 PMID:20301475 PMID:20683928 PMID:20736127 PMID:21151602 PMID:22065924 PMID:23591405 PMID:23847139 PMID:23900199 PMID:24265693 PMID:24474277 PMID:24625443 PMID:24752437 PMID:25412400 PMID:25494902 PMID:25741868 PMID:26047050 PMID:26103963 PMID:26261414 PMID:26306921 PMID:26355662 PMID:26667666 PMID:27032803 PMID:27809489 PMID:28041643 PMID:28492532 PMID:28559085 PMID:30134391 PMID:30372751 PMID:30718709 PMID:30902645 PMID:30979730 PMID:31054281 PMID:31456290 PMID:32014858 PMID:32141364 PMID:32322264 PMID:32790509 PMID:34001834 PMID:34448047 PMID:35006499 PMID:36909829 More...
|
|
NCBI chrNW_004936495:11,111,247...11,121,976
Ensembl chrNW_004936495:11,111,105...11,121,341
|
|
G |
Rdh5 |
retinol dehydrogenase 5 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa |
ClinVar |
PMID:25741868 PMID:28492532 PMID:30718709 |
|
NCBI chrNW_004936646:191,136...195,279
Ensembl chrNW_004936646:191,128...199,777
|
|
G |
Reep6 |
receptor accessory protein 6 |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa |
ClinVar |
PMID:29120066 |
|
NCBI chrNW_004936588:800,492...804,769
Ensembl chrNW_004936588:799,414...809,852
|
|
G |
Rgr |
retinal G protein coupled receptor |
|
ISO |
ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa |
ClinVar |
PMID:10581022 PMID:16199547 PMID:24265693 PMID:25741868 PMID:28492532 PMID:31429209 PMID:32483926 More...
|
|
NCBI chrNW_004936767:855,811...866,941
Ensembl chrNW_004936767:855,856...866,554
|
|
G |
Rho |
rhodopsin |
treatment |
ISO |
ClinVar Annotator: match by term: Autosomal dominant retinitis pigmentosa | ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant/Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration ClinVar Annotator: match by term: Autosomal dominant retinitis pigmentosa | ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant/Recessive | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar Annotator: match by term: Autosomal dominant retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant/Recessive | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa |
RGD ClinVar |
PMID:1301135 PMID:1303237 PMID:1484692 PMID:1580841 PMID:1765377 PMID:1783387 PMID:1833777 PMID:1840561 PMID:1862076 PMID:1882937 PMID:1897520 PMID:1924344 PMID:2215617 PMID:2509724 PMID:7724183 PMID:7981701 PMID:7987326 PMID:7987331 PMID:7987385 PMID:8045708 PMID:8088850 PMID:8240107 PMID:8253795 PMID:8317502 PMID:8328469 PMID:8353500 PMID:8401533 PMID:8406457 PMID:8554077 PMID:8841304 PMID:8905849 PMID:9050844 PMID:9197578 PMID:9380676 PMID:9483582 PMID:9536098 PMID:9618546 PMID:9810568 PMID:10521250 PMID:10967073 PMID:11094174 PMID:11139241 PMID:11141431 PMID:12660238 PMID:12860986 PMID:12871954 PMID:12966518 PMID:14971589 PMID:15126168 PMID:16123440 PMID:16737970 PMID:16767206 PMID:16799052 PMID:17014888 PMID:17083931 PMID:17488458 PMID:17576681 PMID:18175313 PMID:18310263 PMID:19085385 PMID:19913029 PMID:19960070 PMID:20164459 PMID:20525296 PMID:20555336 PMID:20591486 PMID:21077204 PMID:21094163 PMID:21126223 PMID:21174529 PMID:21217109 PMID:21219898 PMID:21268285 PMID:21352497 PMID:21357407 PMID:21922596 PMID:22164218 PMID:22252712 PMID:22791210 PMID:22968130 PMID:22995991 PMID:23221340 PMID:23591405 PMID:23625926 PMID:24106275 PMID:24265693 PMID:24520188 PMID:24760071 PMID:24935155 PMID:24938718 PMID:25097241 PMID:25101269 PMID:25221422 PMID:25408095 PMID:25525159 PMID:25741868 PMID:25999674 PMID:26887858 PMID:26962691 PMID:28041643 PMID:28076437 PMID:28341476 PMID:28492532 PMID:28524165 PMID:28559085 PMID:28981474 PMID:29068140 PMID:29099798 PMID:29847639 PMID:29890221 PMID:30240733 PMID:30718709 PMID:30977563 PMID:31100078 PMID:31319082 PMID:31456290 PMID:31908405 PMID:32037395 PMID:32581362 PMID:33576794 PMID:34906470 PMID:36909829 More...
|
RGD:8547992 RGD:8548515 RGD:8548552 |
NCBI chrNW_004936602:896,730...901,480
Ensembl chrNW_004936602:894,617...901,664
|
|
G |
Rims1 |
regulating synaptic membrane exocytosis 1 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa |
ClinVar |
PMID:25741868 PMID:28492532 PMID:32483926 |
|
NCBI chrNW_004936618:3,678,400...4,047,994
Ensembl chrNW_004936618:3,606,524...4,047,711
|
|
G |
Ripk1 |
receptor interacting serine/threonine kinase 1 |
|
ISO |
|
RGD |
PMID:22908283 |
RGD:7777166 |
NCBI chrNW_004936534:9,326,307...9,361,943
Ensembl chrNW_004936534:9,325,249...9,361,949
|
|
G |
Ripk3 |
receptor interacting serine/threonine kinase 3 |
|
ISO |
|
RGD |
PMID:22908283 |
RGD:7777166 |
NCBI chrNW_004936722:209,019...212,817
Ensembl chrNW_004936722:209,013...212,839
|
|
G |
Rlbp1 |
retinaldehyde binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration |
ClinVar |
PMID:9326942 PMID:10102298 PMID:10102299 PMID:11449319 PMID:11453974 PMID:12536144 PMID:14718298 PMID:15953459 PMID:17065479 PMID:18344446 PMID:19339744 PMID:19846785 PMID:20238024 PMID:22164218 PMID:22171637 PMID:22183382 PMID:22551409 PMID:23105016 PMID:23929416 PMID:24265693 PMID:25307992 PMID:25326637 PMID:25429852 PMID:25741868 PMID:26355662 PMID:28041643 PMID:28492532 PMID:28559085 PMID:30718709 PMID:31456290 PMID:32188692 PMID:33188265 PMID:33851411 PMID:34410188 PMID:34795310 PMID:36247817 More...
|
|
NCBI chrNW_004936483:15,086,485...15,097,980
Ensembl chrNW_004936483:15,084,756...15,096,072
|
|
G |
Rom1 |
retinal outer segment membrane protein 1 |
|
ISO |
ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa |
ClinVar |
PMID:7904211 PMID:8202715 PMID:8595413 PMID:9187681 PMID:9331261 PMID:16799052 PMID:20335603 PMID:24265693 PMID:24938718 PMID:25741868 PMID:28492532 PMID:33688152 PMID:35353811 More...
|
|
NCBI chrNW_004936581:642,322...644,286
Ensembl chrNW_004936581:641,753...644,637
|
|
G |
Rp1 |
RP1 axonemal microtubule associated |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa |
ClinVar |
PMID:9536098 PMID:10484783 PMID:10845615 PMID:11095597 PMID:11139241 PMID:11317367 PMID:11527933 PMID:11694261 PMID:12764676 PMID:15183808 PMID:15863674 PMID:15994872 PMID:16597330 PMID:17576681 PMID:19933189 PMID:19956407 PMID:20664799 PMID:21147909 PMID:22052604 PMID:22317909 PMID:22334370 PMID:22917891 PMID:23077400 PMID:23105016 PMID:23950152 PMID:24033266 PMID:24265693 PMID:24339724 PMID:25088982 PMID:25097241 PMID:25472526 PMID:25494902 PMID:25692139 PMID:25741868 PMID:26306921 PMID:26355662 PMID:26497376 PMID:27391102 PMID:27623337 PMID:28041643 PMID:28224992 PMID:28492532 PMID:29068140 PMID:29425069 PMID:29785639 PMID:29912909 PMID:30027431 PMID:30054919 PMID:30337596 PMID:30718709 PMID:30731082 PMID:30902645 PMID:30913292 PMID:31079053 PMID:31253780 PMID:31456290 PMID:31833436 PMID:32005865 PMID:32037395 PMID:32531858 PMID:32565670 PMID:32581362 PMID:32783370 PMID:33546218 PMID:33576794 PMID:33681214 PMID:34906470 PMID:36909829 More...
|
|
NCBI chrNW_004936496:1,524,123...1,583,114
|
|
G |
Rp1l1 |
RP1 like 1 |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa |
ClinVar |
PMID:22277662 PMID:25324289 PMID:26355662 PMID:28492532 |
|
NCBI chrNW_004936675:2,527,406...2,564,464
|
|
G |
Rp2 |
RP2 activator of ARL3 GTPase |
|
ISO |
ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration |
ClinVar |
PMID:9697692 PMID:10053026 PMID:10090907 PMID:10520237 PMID:10862093 PMID:10937588 PMID:10942419 PMID:11262649 PMID:11826029 PMID:11992260 PMID:12657579 PMID:15032968 PMID:17093403 PMID:17724181 PMID:20021257 PMID:20625056 PMID:22334370 PMID:23150612 PMID:24033266 PMID:24938718 PMID:25097241 PMID:25741868 PMID:26355662 PMID:28041643 PMID:28209709 PMID:28492532 PMID:29847639 PMID:30718709 PMID:31456290 PMID:36909829 More...
|
|
NCBI chrNW_004936502:12,656,187...12,701,689
Ensembl chrNW_004936502:12,656,043...12,701,742
|
|
G |
Rp9 |
RP9 pre-mRNA splicing factor |
|
ISO |
ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa |
ClinVar |
PMID:1479605 PMID:12032732 PMID:15474994 PMID:15541726 PMID:16671097 PMID:17110909 PMID:23647439 PMID:25741868 PMID:28492532 More...
|
|
NCBI chrNW_004936478:8,687,584...8,722,345
|
|
G |
Rpe65 |
retinoid isomerohydrolase RPE65 |
treatment |
ISO |
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration |
RGD ClinVar |
PMID:4492281 PMID:9326941 PMID:9501220 PMID:9843205 PMID:10090910 PMID:10766140 PMID:10937591 PMID:11095629 PMID:11462243 PMID:11786058 PMID:12960219 PMID:13616783 PMID:14971589 PMID:15024725 PMID:15557452 PMID:16123440 PMID:16150724 PMID:16754667 PMID:17197551 PMID:17964524 PMID:18539930 PMID:18599565 PMID:18632300 PMID:18682808 PMID:18722466 PMID:19117922 PMID:19431183 PMID:19753312 PMID:19920137 PMID:20079931 PMID:20164818 PMID:20683928 PMID:20811047 PMID:21153841 PMID:21602930 PMID:23105016 PMID:23591405 PMID:24265693 PMID:24849605 PMID:25257057 PMID:25324289 PMID:25356976 PMID:25495949 PMID:25525159 PMID:25741868 PMID:25752820 PMID:25972377 PMID:26047050 PMID:26306921 PMID:26355662 PMID:26626312 PMID:26656277 PMID:26906952 PMID:27102010 PMID:27874104 PMID:28041643 PMID:28492532 PMID:29186038 PMID:29332120 PMID:29681726 PMID:29785639 PMID:30268864 PMID:30576320 PMID:30718709 PMID:30870047 PMID:31273949 PMID:31630094 PMID:31725702 PMID:31878136 PMID:32581362 PMID:32865313 PMID:33576794 PMID:33629268 PMID:34492281 PMID:34830511 PMID:34906470 PMID:36909829 More...
|
RGD:9585645 |
NCBI chrNW_004936591:3,347,346...3,368,062
Ensembl chrNW_004936591:3,347,272...3,368,015
|
|
G |
Rpgr |
retinitis pigmentosa GTPase regulator |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa |
ClinVar |
PMID:7611300 PMID:8673101 PMID:8817343 PMID:9399904 PMID:9536098 PMID:10482958 PMID:10932196 PMID:10970770 PMID:11754050 PMID:11992260 PMID:12402343 PMID:12657579 PMID:16055928 PMID:16199547 PMID:16936086 PMID:16969763 PMID:17195164 PMID:17480003 PMID:17576681 PMID:17724181 PMID:18332319 PMID:18552978 PMID:19893586 PMID:20861475 PMID:22264887 PMID:23150612 PMID:23213406 PMID:23372056 PMID:23443027 PMID:25741868 PMID:26143542 PMID:26261414 PMID:27236918 PMID:27620828 PMID:28041643 PMID:28322733 PMID:28492532 PMID:29276052 PMID:30029497 PMID:30289068 PMID:30622176 PMID:30718709 PMID:30917587 PMID:31456290 PMID:31645972 PMID:31804667 PMID:32036094 PMID:32531858 PMID:32679846 PMID:32702353 PMID:34906470 PMID:34985506 PMID:36909829 More...
|
|
NCBI chrNW_004936502:5,163,164...5,212,940
|
|
G |
Rpgrip1 |
RPGR interacting protein 1 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa |
ClinVar |
PMID:11528500 PMID:23105016 PMID:24516651 PMID:25741868 PMID:28041643 PMID:28181551 PMID:28456785 PMID:28492532 PMID:29178642 PMID:30072743 PMID:31456290 PMID:31816670 PMID:32531858 PMID:34722527 PMID:34906470 PMID:36909829 More...
|
|
NCBI chrNW_004936880:440,900...511,503
Ensembl chrNW_004936880:440,737...512,685
|
|
G |
Sag |
S-antigen visual arrestin |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration |
ClinVar |
PMID:9452120 PMID:9501883 PMID:9536098 PMID:15234147 PMID:16199547 PMID:17576681 PMID:18175313 PMID:20981092 PMID:22665972 PMID:22995991 PMID:24265693 PMID:25741868 PMID:28492532 PMID:30718709 More...
|
|
NCBI chrNW_004936525:3,932,118...3,965,651
Ensembl chrNW_004936525:3,931,933...3,964,834
|
|
G |
Scaper |
S-phase cyclin A associated protein in the ER |
|
ISO |
ClinVar Annotator: match by term: Syndromic retinitis pigmentosa |
ClinVar |
PMID:28794130 PMID:32214227 |
|
NCBI chrNW_004936471:35,414,507...35,834,438
Ensembl chrNW_004936471:35,416,571...35,835,048
|
|
G |
Sema4a |
semaphorin 4A |
|
ISO |
ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration |
ClinVar |
PMID:16199541 PMID:23360997 PMID:24033266 PMID:25307848 PMID:25741868 PMID:26103963 PMID:28492532 PMID:28805479 PMID:32483926 PMID:32531858 More...
|
|
NCBI chrNW_004936580:5,404,380...5,431,183
Ensembl chrNW_004936580:5,406,194...5,431,185
|
|
G |
Serpinf1 |
serpin family F member 1 |
treatment |
ISO |
human gene in a rat model |
RGD |
PMID:18837062 |
RGD:8554900 |
NCBI chrNW_004936538:7,885,816...7,898,308
Ensembl chrNW_004936538:7,885,475...7,899,113
|
|
G |
Slc19a1 |
solute carrier family 19 member 1 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa |
ClinVar |
PMID:12415512 PMID:19160445 PMID:19390655 PMID:20799329 PMID:21862674 PMID:23667181 PMID:25456301 PMID:25741868 PMID:28041643 PMID:28492532 PMID:29977801 PMID:34828430 More...
|
|
NCBI chrNW_004936778:823,376...846,843
Ensembl chrNW_004936778:829,550...848,833
|
|
G |
Slc24a1 |
solute carrier family 24 member 1 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration |
ClinVar |
PMID:12037007 PMID:20850105 PMID:25741868 PMID:26822852 PMID:28492532 |
|
NCBI chrNW_004936471:25,872,854...25,909,102
Ensembl chrNW_004936471:25,872,423...25,908,158
|
|
G |
Slc6a6 |
solute carrier family 6 member 6 |
|
ISO |
OMIM:268000 |
MouseDO |
|
|
NCBI chrNW_004936602:233,753...274,982
|
|
G |
Smim27 |
small integral membrane protein 27 |
|
ISO |
ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa |
ClinVar |
|
|
NCBI chrNW_004936524:1,229,556...1,230,474
Ensembl chrNW_004936524:1,229,722...1,230,211
|
|
G |
Snx17 |
sorting nexin 17 |
|
ISO |
ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa |
ClinVar |
|
|
NCBI chrNW_004936493:5,207,134...5,212,957
Ensembl chrNW_004936493:5,204,846...5,212,957
|
|
G |
Sod1 |
superoxide dismutase 1 |
severity |
ISO |
human gene in a mouse model |
RGD |
PMID:19293779 PMID:21736939 |
RGD:8158049 RGD:8655617 |
NCBI chrNW_004936500:10,345,154...10,352,873
Ensembl chrNW_004936500:10,345,154...10,352,867
|
|
G |
Sod2 |
superoxide dismutase 2 |
|
ISO |
|
RGD |
PMID:19293779 |
RGD:8158049 |
NCBI chrNW_004936489:11,178,338...11,191,601
Ensembl chrNW_004936489:11,178,015...11,191,781
|
|
G |
Spata7 |
spermatogenesis associated 7 |
|
ISO |
ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration |
ClinVar |
PMID:9536098 PMID:17576681 PMID:19268277 PMID:22334370 PMID:23847139 PMID:25741868 PMID:26047050 PMID:26261414 PMID:26306921 PMID:26355662 PMID:28481129 PMID:28492532 PMID:30054919 PMID:31908400 More...
|
|
NCBI chrNW_004936488:15,878,167...15,911,301
Ensembl chrNW_004936488:15,878,158...15,911,415
|
|
G |
Tfpt |
TCF3 fusion partner |
|
ISO |
ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936994:234,978...239,425
Ensembl chrNW_004936994:234,992...239,425
|
|
G |
Topors |
TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase |
|
ISO |
ClinVar Annotator: match by term: Pigmentary retinopathy | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar Annotator: match by term: Pigmentary retinopathy | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa |
ClinVar |
PMID:18509552 PMID:19373681 PMID:22334370 PMID:25741868 PMID:28041643 PMID:28166811 PMID:28492532 PMID:30718709 More...
|
|
NCBI chrNW_004936524:1,219,101...1,229,937
Ensembl chrNW_004936524:1,219,907...1,229,723
|
|
G |
Trpm1 |
transient receptor potential cation channel subfamily M member 1 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa |
ClinVar |
PMID:25741868 PMID:28492532 PMID:30718709 |
|
NCBI chrNW_004936483:723,784...856,839
Ensembl chrNW_004936483:724,018...858,855
|
|
G |
Ttc8 |
tetratricopeptide repeat domain 8 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa |
ClinVar |
PMID:14520415 PMID:16308660 PMID:25097241 PMID:25326637 PMID:25741868 PMID:28492532 PMID:30718709 PMID:30886724 PMID:33964006 More...
|
|
NCBI chrNW_004936488:16,258,247...16,306,077
Ensembl chrNW_004936488:16,258,058...16,306,589
|
|
G |
Ttll5 |
tubulin tyrosine ligase like 5 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa |
ClinVar |
PMID:24791901 PMID:25741868 PMID:27162334 PMID:28492532 PMID:32531858 |
|
NCBI chrNW_004936488:4,723,314...4,983,926
Ensembl chrNW_004936488:4,724,909...4,983,318
|
|
G |
Ttpa |
alpha tocopherol transfer protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10896705 |
|
NCBI chrNW_004936496:10,409,948...10,466,722
Ensembl chrNW_004936496:10,454,605...10,465,301
|
|
G |
Tulp1 |
TUB like protein 1 |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Pigmentary retinopathy | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration |
ClinVar |
PMID:8606774 PMID:9462750 PMID:9462751 PMID:9536098 PMID:9660588 PMID:10440267 PMID:10549638 PMID:15024725 PMID:15557452 PMID:17576681 PMID:17962469 PMID:18055821 PMID:18432314 PMID:18936139 PMID:22605927 PMID:23105016 PMID:23847139 PMID:24033266 PMID:24265693 PMID:25324289 PMID:25342276 PMID:25342620 PMID:25692139 PMID:25741868 PMID:26047050 PMID:26355662 PMID:26766544 PMID:28127548 PMID:28492532 PMID:28981474 PMID:29625443 PMID:29843741 PMID:30054919 PMID:30337596 PMID:30718709 PMID:31630094 PMID:32531858 PMID:32901917 PMID:33090715 PMID:33173045 PMID:33576794 PMID:33691693 PMID:33946315 PMID:34906470 PMID:36909829 More...
|
|
NCBI chrNW_004936476:23,744,707...23,757,002
Ensembl chrNW_004936476:23,744,757...23,756,565
|
|
G |
Unc119 |
unc-119 lipid binding chaperone |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11006213 |
|
NCBI chrNW_004936538:4,772,236...4,778,149
Ensembl chrNW_004936538:4,772,283...4,778,137
|
|
G |
Ush1c |
USH1 protein network component harmonin |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa |
ClinVar |
PMID:10973247 PMID:10973248 PMID:11139240 PMID:12107438 PMID:12630964 PMID:12702164 PMID:17407589 PMID:20301442 PMID:21203349 PMID:21569298 PMID:22135276 PMID:23251578 PMID:24033266 PMID:25741868 PMID:26969326 PMID:28041643 PMID:28492532 PMID:29490346 PMID:30303587 PMID:30718709 More...
|
|
NCBI chrNW_004936528:1,552,175...1,594,740
Ensembl chrNW_004936528:1,552,289...1,594,801
|
|
G |
Ush2a |
usherin |
susceptibility |
ISO |
DNA:missense mutation, snp:cds, intron:p.G1734R, g.IVS32+1G>A (human) ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Pigmentary retinopathy | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration ClinVar Annotator: match by term: Autosomal dominant retinitis pigmentosa | ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Pigmentary retinopathy | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Pigmentary retinopathy | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration DNA:snps, deletions, insertion:multiple (human) DNA:missense mutation:cds:p.C759F (human) |
RGD ClinVar |
PMID:1968399 PMID:2525289 PMID:2564938 PMID:9536098 PMID:9624053 PMID:10090909 PMID:10729113 PMID:10738000 PMID:10775529 PMID:10909849 PMID:11311042 PMID:11402400 PMID:12112664 PMID:12427073 PMID:12525556 PMID:12786748 PMID:14676276 PMID:14970843 PMID:15015129 PMID:15025721 PMID:15043528 PMID:15241801 PMID:15325563 PMID:15326663 PMID:15823922 PMID:16098008 PMID:16199547 PMID:16963483 PMID:17085681 PMID:17296898 PMID:17405132 PMID:17576681 PMID:18273898 PMID:18281613 PMID:18463160 PMID:18484607 PMID:18641288 PMID:19023448 PMID:19129697 PMID:19683999 PMID:19737284 PMID:19881469 PMID:20052763 PMID:20145675 PMID:20301442 PMID:20301515 PMID:20309401 PMID:20440071 PMID:20497194 PMID:20507924 PMID:20513143 PMID:20591486 PMID:20596040 PMID:20801516 PMID:21147909 PMID:21151602 PMID:21228398 PMID:21569298 PMID:21593743 PMID:21686329 PMID:21738395 PMID:21909055 PMID:22004887 PMID:22009552 PMID:22025579 PMID:22135276 PMID:22334370 PMID:22581970 PMID:22681893 PMID:22952768 PMID:23591405 PMID:23661368 PMID:23755871 PMID:23804846 PMID:23924366 PMID:23940504 PMID:23967202 PMID:23991284 PMID:24033266 PMID:24043777 PMID:24088041 PMID:24154662 PMID:24160897 PMID:24164807 PMID:24227914 PMID:24265693 PMID:24498627 PMID:24516651 PMID:24603341 PMID:24607488 PMID:24625443 PMID:24853665 PMID:24901346 PMID:24938718 PMID:24944099 PMID:25078356 PMID:25097241 PMID:25133613 PMID:25133751 PMID:25252889 PMID:25261458 PMID:25262649 PMID:25324289 PMID:25326637 PMID:25333064 PMID:25356976 PMID:25366773 PMID:25375654 PMID:25404053 PMID:25412400 PMID:25425308 PMID:25445212 PMID:25468891 PMID:25472526 PMID:25521520 PMID:25525159 PMID:25558175 PMID:25575603 PMID:25649381 PMID:25741868 PMID:25804404 PMID:25823529 PMID:25910913 PMID:25999674 PMID:26075083 PMID:26261414 PMID:26306921 PMID:26310143 PMID:26338283 PMID:26346818 PMID:26355662 PMID:26416264 PMID:26467025 PMID:26496393 PMID:26629787 PMID:26633545 PMID:26654877 PMID:26667666 PMID:26764160 PMID:26806561 PMID:26856745 PMID:26872967 PMID:26927203 PMID:26969326 PMID:27032803 PMID:27057829 PMID:27157150 PMID:27160483 PMID:27208204 PMID:27318125 PMID:27460420 PMID:27596865 PMID:27957503 PMID:28041643 PMID:28118666 PMID:28127548 PMID:28130426 PMID:28157192 PMID:28224992 PMID:28281779 PMID:28492532 PMID:28512305 PMID:28559085 PMID:28653555 PMID:28678594 PMID:28761320 PMID:28838317 PMID:28894305 PMID:28944237 PMID:28981474 PMID:29068140 PMID:29074561 PMID:29099798 PMID:29142287 PMID:29196752 PMID:29276052 PMID:29283788 PMID:29293505 PMID:29343940 PMID:29490346 PMID:29588463 PMID:29625443 PMID:29641573 PMID:29767709 PMID:29785639 PMID:29899460 PMID:29912909 PMID:29953849 PMID:30054919 PMID:30190494 PMID:30192042 PMID:30245029 PMID:30280194 PMID:30311386 PMID:30459346 PMID:30543658 PMID:30718709 PMID:30872814 PMID:30902645 PMID:30924848 PMID:30948794 PMID:31047384 PMID:31213501 PMID:31266775 PMID:31370859 PMID:31429209 PMID:31456290 PMID:31589614 PMID:31699113 PMID:31816670 PMID:31817543 PMID:31836858 PMID:31872526 PMID:31877679 PMID:31960602 PMID:31980526 PMID:31998945 PMID:32037395 PMID:32098976 PMID:32176120 PMID:32188678 PMID:32483926 PMID:32531858 PMID:32552793 PMID:32581362 PMID:32637036 PMID:32646269 PMID:32675063 PMID:32893482 PMID:33089500 PMID:33090715 PMID:33105608 PMID:33111992 PMID:33124170 PMID:33269433 PMID:33576794 PMID:33691693 PMID:33749171 PMID:33926394 PMID:34008892 PMID:34031601 PMID:34148116 PMID:34203883 PMID:34203967 PMID:34426522 PMID:34638692 PMID:34781295 PMID:34906470 PMID:34948090 PMID:35266249 PMID:35672425 PMID:36011334 PMID:36284460 PMID:36314366 PMID:36362125 PMID:36460718 PMID:36909829 PMID:37322672 More...
|
RGD:8547963 RGD:8547966 RGD:8547967 |
NCBI chrNW_004936628:2,123,917...2,859,958
Ensembl chrNW_004936628:2,123,957...2,858,872
|
|
G |
Vegfa |
vascular endothelial growth factor A |
|
ISO |
protein:increased expression:eye: |
RGD |
PMID:18326689 |
RGD:7483592 |
NCBI chrNW_004936476:16,245,134...16,261,180
Ensembl chrNW_004936476:16,247,100...16,260,673
|
|
G |
Vps13b |
vacuolar protein sorting 13 homolog B |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa |
ClinVar |
PMID:15141358 PMID:16648375 PMID:20461111 PMID:25741868 PMID:26467025 PMID:28492532 More...
|
|
NCBI chrNW_004936470:43,281,905...43,952,523
Ensembl chrNW_004936470:43,281,469...43,951,805
|
|
G |
Vsx2 |
visual system homeobox 2 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa |
ClinVar |
|
|
NCBI chrNW_004936488:3,487,718...3,507,802
Ensembl chrNW_004936488:3,487,702...3,508,191
|
|
G |
Wdr19 |
WD repeat domain 19 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa |
ClinVar |
PMID:25741868 PMID:28492532 PMID:34906470 |
|
NCBI chrNW_004936482:6,863,592...6,937,810
Ensembl chrNW_004936482:6,863,571...6,937,979
|
|
G |
Zdhhc24 |
zinc finger DHHC-type containing 24 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration |
ClinVar |
PMID:9536098 PMID:12118255 PMID:12524598 PMID:12677556 PMID:12837689 PMID:15314642 PMID:15770229 PMID:16327777 PMID:17576681 PMID:17980398 PMID:18032602 PMID:18669544 PMID:18766993 PMID:20301537 PMID:20498079 PMID:21052717 PMID:21517826 PMID:21520335 PMID:21642631 PMID:22410627 PMID:22581970 PMID:22940089 PMID:22998390 PMID:23143442 PMID:23565731 PMID:23847139 PMID:23943788 PMID:24033266 PMID:24746959 PMID:25326635 PMID:25741868 PMID:26467025 PMID:26872967 PMID:27032803 PMID:27659767 PMID:27788217 PMID:28041643 PMID:28492532 PMID:29264490 PMID:29588463 PMID:30614526 PMID:30718709 PMID:33532864 PMID:34526762 PMID:34906470 PMID:36909829 More...
|
|
NCBI chrNW_004936599:3,047,011...3,054,512
Ensembl chrNW_004936599:3,047,011...3,054,498
|
|
G |
Zfyve26 |
zinc finger FYVE-type containing 26 |
|
ISO |
ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa |
ClinVar |
PMID:15258582 PMID:15322982 PMID:16269441 PMID:17389517 PMID:17512964 PMID:18779497 PMID:19011012 PMID:20301475 PMID:20683928 PMID:20736127 PMID:21151602 PMID:22065924 PMID:23591405 PMID:23847139 PMID:24474277 PMID:24625443 PMID:25412400 PMID:25494902 PMID:25741868 PMID:26047050 PMID:26103963 PMID:26667666 PMID:28041643 PMID:28492532 PMID:28559085 PMID:30718709 PMID:30902645 PMID:30979730 PMID:31456290 PMID:32141364 PMID:32322264 PMID:32790509 PMID:34001834 PMID:35006499 PMID:36909829 More...
|
|
NCBI chrNW_004936495:11,132,025...11,191,446
Ensembl chrNW_004936495:11,134,138...11,190,863
|
|
G |
Znf408 |
zinc finger protein 408 |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa |
ClinVar |
PMID:28095122 |
|
NCBI chrNW_004936562:2,394,368...2,400,924
Ensembl chrNW_004936562:2,393,751...2,400,650
|
|
G |
Znf513 |
zinc finger protein 513 |
|
ISO |
ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa |
ClinVar |
PMID:20227676 PMID:20797688 PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936493:5,203,926...5,207,031
Ensembl chrNW_004936493:5,204,020...5,207,025
|
|
|
G |
Abca4 |
ATP binding cassette subfamily A member 4 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 1 |
ClinVar |
PMID:17325179 PMID:20029649 PMID:23419329 PMID:23769331 PMID:23982839 PMID:25444351 PMID:25741868 PMID:28492532 PMID:32307445 More...
|
|
NCBI chrNW_004936537:4,969,456...5,326,682
Ensembl chrNW_004936537:5,202,093...5,323,527
|
|
G |
Rp1 |
RP1 axonemal microtubule associated |
|
ISO |
ClinVar Annotator: match by term: RP1-related retinal dystrophy | ClinVar Annotator: match by term: Retinitis pigmentosa 1 |
OMIM ClinVar |
PMID:1783394 PMID:8931712 PMID:9536098 PMID:10391211 PMID:10391212 PMID:10401003 PMID:10465120 PMID:10845615 PMID:11095597 PMID:11317367 PMID:11527933 PMID:11694261 PMID:11960024 PMID:12764676 PMID:15183808 PMID:15863674 PMID:15994872 PMID:17576681 PMID:19933189 PMID:19956407 PMID:20664799 PMID:21147909 PMID:22317909 PMID:22917891 PMID:23077400 PMID:23105016 PMID:24033266 PMID:24265693 PMID:24339724 PMID:25097241 PMID:25741868 PMID:26355662 PMID:26766544 PMID:27391102 PMID:27623337 PMID:28041643 PMID:28076437 PMID:28418496 PMID:28492532 PMID:29425069 PMID:29641573 PMID:29785639 PMID:29847639 PMID:30027431 PMID:30029497 PMID:30054919 PMID:30337596 PMID:30718709 PMID:30902645 PMID:30913292 PMID:31079053 PMID:31213501 PMID:31253780 PMID:31630094 PMID:32005865 PMID:32037395 PMID:32100970 PMID:32193659 PMID:32565670 PMID:32587456 PMID:33090715 PMID:33546218 PMID:33576794 PMID:33681214 PMID:33691693 PMID:33946315 PMID:34721897 PMID:36284460 More...
|
|
NCBI chrNW_004936496:1,524,123...1,583,114
|
|
|
G |
Impdh1 |
inosine monophosphate dehydrogenase 1 |
|
ISO |
ClinVar Annotator: match by term: IMPDH1-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 10 |
OMIM ClinVar |
PMID:11875049 PMID:11875050 PMID:15851576 PMID:15882147 PMID:16384941 PMID:16671097 PMID:21791244 PMID:25741868 PMID:26720483 PMID:28492532 PMID:28945494 PMID:33090715 More...
|
|
NCBI chrNW_004936479:15,523,342...15,540,229
Ensembl chrNW_004936479:15,523,037...15,540,173
|
|
|
G |
Prpf31 |
pre-mRNA processing factor 31 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 11 |
OMIM ClinVar |
PMID:5764686 PMID:8004108 PMID:8025041 PMID:8808602 PMID:9345108 PMID:9536098 PMID:11545739 PMID:12923864 PMID:16199547 PMID:16708387 PMID:16799052 PMID:17325180 PMID:17412961 PMID:17576681 PMID:18317597 PMID:19293337 PMID:19618371 PMID:20861475 PMID:23288994 PMID:23950152 PMID:25356976 PMID:25525159 PMID:25741868 PMID:26781568 PMID:26872967 PMID:27391102 PMID:28192796 PMID:28492532 PMID:29847639 PMID:29957067 PMID:30582903 PMID:31047384 PMID:31054281 PMID:31690835 PMID:31892304 PMID:32014492 PMID:32037395 PMID:33085829 PMID:33090715 PMID:33946315 PMID:34148116 PMID:34906470 PMID:36317469 More...
|
|
NCBI chrNW_004936994:239,688...252,269
Ensembl chrNW_004936994:239,682...252,317
|
|
|
G |
Aspm |
assembly factor for spindle microtubules |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 12 |
ClinVar |
PMID:10508521 PMID:17964524 PMID:22065545 PMID:23379534 PMID:25412400 PMID:26957898 PMID:28041643 PMID:28492532 PMID:29391521 More...
|
|
NCBI chrNW_004936567:6,653,382...6,701,856
Ensembl chrNW_004936567:6,653,728...6,701,752
|
|
G |
Crb1 |
crumbs cell polarity complex component 1 |
|
ISO |
ClinVar Annotator: match by term: RETINITIS PIGMENTOSA WITH OR WITHOUT PARAARTERIOLAR PRESERVATION OF RETINAL PIGMENT EPITHELIUM | ClinVar Annotator: match by term: Retinitis pigmentosa 12 |
OMIM ClinVar |
PMID:1389483 PMID:1427914 PMID:2906847 PMID:8069649 PMID:9536098 PMID:10508521 PMID:11231775 PMID:11389483 PMID:12567265 PMID:12573663 PMID:12700176 PMID:12843338 PMID:14971589 PMID:15024725 PMID:15459956 PMID:15623792 PMID:16123401 PMID:16199547 PMID:16272259 PMID:16505055 PMID:16543197 PMID:16936081 PMID:17128490 PMID:17297678 PMID:17525851 PMID:17576681 PMID:17660513 PMID:17724218 PMID:17964524 PMID:18055816 PMID:18055820 PMID:18055821 PMID:18682808 PMID:19140180 PMID:19339744 PMID:19401883 PMID:19763152 PMID:19956407 PMID:20065226 PMID:20079931 PMID:20301475 PMID:20307669 PMID:20591486 PMID:20683928 PMID:20956273 PMID:21484995 PMID:21602930 PMID:21757580 PMID:22065545 PMID:22128245 PMID:22164218 PMID:22219627 PMID:22334370 PMID:22406018 PMID:22968130 PMID:23077403 PMID:23105016 PMID:23362850 PMID:23379534 PMID:23449718 PMID:23462753 PMID:23591405 PMID:23592920 PMID:23661368 PMID:23847139 PMID:24033266 PMID:24265693 PMID:24512366 PMID:24535598 PMID:24618324 PMID:24715753 PMID:24811962 PMID:24938718 PMID:25097241 PMID:25133751 PMID:25323024 PMID:25326637 PMID:25356976 PMID:25377065 PMID:25412400 PMID:25474345 PMID:25611614 PMID:25640679 PMID:25741868 PMID:26047050 PMID:26103963 PMID:26147992 PMID:26312378 PMID:26355662 PMID:26626312 PMID:26667666 PMID:26766544 PMID:26872607 PMID:26914788 PMID:26957898 PMID:27032803 PMID:27096895 PMID:27113771 PMID:27157150 PMID:27208204 PMID:27258436 PMID:27353947 PMID:27380427 PMID:27628848 PMID:27670293 PMID:27806333 PMID:27884173 PMID:28005958 PMID:28041643 PMID:28129017 PMID:28157192 PMID:28181551 PMID:28341475 PMID:28341476 PMID:28460491 PMID:28492532 PMID:28512305 PMID:28559085 PMID:28714225 PMID:28800606 PMID:28819299 PMID:28912962 PMID:29053603 PMID:29068479 PMID:29074561 PMID:29145603 PMID:29178642 PMID:29186038 PMID:29200130 PMID:29391521 PMID:29641573 PMID:29844330 PMID:30029497 PMID:30543658 PMID:30576320 PMID:30608181 PMID:30718709 PMID:30902645 PMID:31054281 PMID:31103025 PMID:31106028 PMID:31322236 PMID:31456290 PMID:31630094 PMID:31725702 PMID:31736247 PMID:31896775 PMID:32037395 PMID:32141364 PMID:32531858 PMID:32581362 PMID:32865313 PMID:32901921 PMID:33090715 PMID:33342761 PMID:33546218 PMID:33576794 PMID:33579689 PMID:33633436 PMID:33921607 PMID:33946315 PMID:33970760 PMID:34758253 PMID:34884448 PMID:34906470 PMID:35119454 PMID:35318874 PMID:36099972 PMID:36460718 PMID:36909829 More...
|
|
NCBI chrNW_004936567:6,347,661...6,559,731
Ensembl chrNW_004936567:6,366,489...6,559,766
|
|
G |
Dennd1b |
DENN domain containing 1B |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 12 |
ClinVar |
PMID:10508521 PMID:17964524 PMID:22065545 PMID:23379534 PMID:25412400 PMID:26957898 PMID:28041643 PMID:28492532 PMID:29391521 More...
|
|
NCBI chrNW_004936567:6,131,433...6,353,003
Ensembl chrNW_004936567:6,134,179...6,348,086
|
|
G |
F13b |
coagulation factor XIII B chain |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 12 |
ClinVar |
PMID:10508521 PMID:17964524 PMID:22065545 PMID:23379534 PMID:25412400 PMID:26957898 PMID:28041643 PMID:28492532 PMID:29391521 More...
|
|
NCBI chrNW_004936567:6,712,666...6,735,539
|
|
G |
Zbtb41 |
zinc finger and BTB domain containing 41 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 12 |
ClinVar |
PMID:10508521 PMID:17964524 PMID:22065545 PMID:23379534 PMID:25412400 PMID:26957898 PMID:28041643 PMID:28492532 PMID:29391521 More...
|
|
NCBI chrNW_004936567:6,601,911...6,645,431
Ensembl chrNW_004936567:6,602,761...6,639,804
|
|
|
G |
Prpf8 |
pre-mRNA processing factor 8 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 13 |
OMIM ClinVar |
PMID:9536098 PMID:11468273 PMID:11910553 PMID:12714658 PMID:16799052 PMID:17061239 PMID:17576681 PMID:18695108 PMID:20232351 PMID:21378395 PMID:22039234 PMID:23484092 PMID:23950152 PMID:24938718 PMID:25741868 PMID:28041643 PMID:28076437 PMID:28492532 PMID:28515276 PMID:29087248 PMID:30360737 PMID:31725702 PMID:32424050 PMID:33576794 PMID:34906470 PMID:36819107 PMID:36909829 More...
|
|
NCBI chrNW_004936538:7,780,022...7,814,575
Ensembl chrNW_004936538:7,780,022...7,814,575
|
|
|
G |
Prpf8 |
pre-mRNA processing factor 8 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 14 |
ClinVar |
|
|
NCBI chrNW_004936538:7,780,022...7,814,575
Ensembl chrNW_004936538:7,780,022...7,814,575
|
|
G |
Tead3 |
TEA domain transcription factor 3 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 14 |
ClinVar |
PMID:9462750 PMID:25741868 PMID:26427415 PMID:28492532 PMID:32531858 |
|
NCBI chrNW_004936476:23,766,021...23,776,785
Ensembl chrNW_004936476:23,766,012...23,779,349
|
|
G |
Tulp1 |
TUB like protein 1 |
|
ISO |
ClinVar Annotator: match by term: RETINITIS PIGMENTOSA, JUVENILE, TULP1-RELATED | ClinVar Annotator: match by term: Retinitis pigmentosa 14 |
OMIM ClinVar |
PMID:8606774 PMID:9462750 PMID:9462751 PMID:9536098 PMID:9660588 PMID:10440267 PMID:10549638 PMID:15024725 PMID:15557452 PMID:16199547 PMID:17576681 PMID:17620573 PMID:17962469 PMID:18055821 PMID:18936139 PMID:21792230 PMID:22665969 PMID:23105016 PMID:23499059 PMID:23591405 PMID:23661368 PMID:25324289 PMID:25342276 PMID:25741868 PMID:26103963 PMID:26355662 PMID:26427415 PMID:26766544 PMID:26856745 PMID:26987071 PMID:27440997 PMID:28127548 PMID:28492532 PMID:28559085 PMID:28981474 PMID:30054919 PMID:30337596 PMID:30718709 PMID:30950243 PMID:31429209 PMID:31630094 PMID:32531858 PMID:32901917 PMID:33090715 PMID:33691693 PMID:33921607 PMID:33946315 PMID:34906470 More...
|
|
NCBI chrNW_004936476:23,744,707...23,757,002
Ensembl chrNW_004936476:23,744,757...23,756,565
|
|
|
G |
Ca4 |
carbonic anhydrase 4 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 17 |
ClinVar |
PMID:7581389 PMID:9385361 PMID:15090652 PMID:15295099 PMID:15563508 PMID:17652713 PMID:19211803 PMID:20238024 PMID:20450258 PMID:20626030 PMID:25741868 PMID:28492532 PMID:33022222 More...
|
|
NCBI chrNW_004936490:1,764,845...1,773,752
Ensembl chrNW_004936490:1,764,795...1,774,645
|
|
|
G |
Prpf3 |
pre-mRNA processing factor 3 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 18 |
OMIM ClinVar |
PMID:11773002 PMID:15085354 PMID:16799052 PMID:17517693 PMID:17932117 PMID:18412284 PMID:20309403 PMID:20811066 PMID:21378395 PMID:25741868 PMID:28492532 PMID:28559085 PMID:33576794 More...
|
|
NCBI chrNW_004936580:604,709...632,788
Ensembl chrNW_004936580:605,138...633,104
|
|
|
G |
Abca4 |
ATP binding cassette subfamily A member 4 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 19 |
OMIM ClinVar |
PMID:9054934 PMID:9070931 PMID:9295268 PMID:9425888 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:10874631 PMID:10880298 PMID:10958761 PMID:10958763 PMID:11017087 PMID:11123914 PMID:11328725 PMID:11379881 PMID:11385708 PMID:11444963 PMID:11527935 PMID:11687513 PMID:11702214 PMID:11726554 PMID:11846518 PMID:11919200 PMID:11973624 PMID:12037008 PMID:12192456 PMID:12515255 PMID:12592048 PMID:12796258 PMID:14517951 PMID:15108289 PMID:15161829 PMID:15192030 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:17576681 PMID:17724221 PMID:18024811 PMID:18285826 PMID:18414213 PMID:18652558 PMID:18854780 PMID:18977788 PMID:19074458 PMID:19217903 PMID:19265867 PMID:19365591 PMID:20128570 PMID:20554613 PMID:20696155 PMID:20981092 PMID:21786275 PMID:21873672 PMID:21911583 PMID:22025579 PMID:22229821 PMID:22247458 PMID:22264887 PMID:22312191 PMID:22328824 PMID:22395892 PMID:22427542 PMID:22449572 PMID:22589445 PMID:22661472 PMID:22661473 PMID:22968130 PMID:23105016 PMID:23134348 PMID:23143460 PMID:23144455 PMID:23419329 PMID:23443024 PMID:23499370 PMID:23591405 PMID:23695285 PMID:23755871 PMID:23769331 PMID:23776498 PMID:23918662 PMID:23953153 PMID:23982839 PMID:24033266 PMID:24082139 PMID:24154662 PMID:24265693 PMID:24409374 PMID:24444108 PMID:24453473 PMID:24509150 PMID:24585425 PMID:24713488 PMID:24938718 PMID:25066811 PMID:25082829 PMID:25082885 PMID:25087612 PMID:25097241 PMID:25283059 PMID:25312043 PMID:25333069 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:26092729 PMID:26103963 PMID:26161775 PMID:26247787 PMID:26261413 PMID:26355662 PMID:26527198 PMID:26593885 PMID:26780318 PMID:26872967 PMID:26976702 PMID:27032803 PMID:27353947 PMID:27535533 PMID:27583828 PMID:27775217 PMID:27939946 PMID:28041643 PMID:28044389 PMID:28118664 PMID:28130426 PMID:28181551 PMID:28224992 PMID:28327576 PMID:28341476 PMID:28430335 PMID:28446513 PMID:28492532 PMID:28559085 PMID:28947085 PMID:29099798 PMID:29114839 PMID:29162642 PMID:29186038 PMID:29310964 PMID:29422768 PMID:29461686 PMID:29555955 PMID:29847635 PMID:29847651 PMID:29854428 PMID:29925512 PMID:30054919 PMID:30060493 PMID:30093795 PMID:30337596 PMID:30576320 PMID:30578500 PMID:30670881 PMID:30718709 PMID:30834176 PMID:31212395 PMID:31213501 PMID:31456290 PMID:31522899 PMID:31576780 PMID:31766579 PMID:31964843 PMID:32235935 PMID:32278709 PMID:32531858 PMID:32619608 PMID:32783370 PMID:32821503 PMID:32845068 PMID:33223529 PMID:33546218 PMID:33841504 PMID:34008892 PMID:34214897 PMID:34906470 PMID:35886001 PMID:35903041 PMID:36909829 PMID:92952680 More...
|
|
NCBI chrNW_004936537:4,969,456...5,326,682
Ensembl chrNW_004936537:5,202,093...5,323,527
|
|
|
G |
Arl3 |
ADP ribosylation factor like GTPase 3 |
|
ISO |
OMIM:312600 |
MouseDO |
|
|
NCBI chrNW_004936600:3,190,212...3,229,831
Ensembl chrNW_004936600:3,190,208...3,232,755
|
|
G |
Rp2 |
RP2 activator of ARL3 GTPase |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 2 |
OMIM ClinVar |
PMID:9536098 PMID:9697692 PMID:10053026 PMID:10090907 PMID:10520237 PMID:10862093 PMID:10937588 PMID:10942419 PMID:11262649 PMID:11462235 PMID:11826029 PMID:11992260 PMID:12037013 PMID:12657579 PMID:15032968 PMID:16199547 PMID:16472755 PMID:17093403 PMID:17576681 PMID:17724181 PMID:18376416 PMID:20021257 PMID:20106869 PMID:20625056 PMID:20669900 PMID:20729296 PMID:21738648 PMID:22072390 PMID:22334370 PMID:23150612 PMID:24033266 PMID:24938718 PMID:24940031 PMID:25097241 PMID:25741868 PMID:26355662 PMID:28041643 PMID:28209709 PMID:28492532 PMID:30576320 PMID:30718709 PMID:31456290 PMID:31736247 PMID:32244552 PMID:33546218 PMID:34008892 PMID:34906488 More...
|
|
NCBI chrNW_004936502:12,656,187...12,701,689
Ensembl chrNW_004936502:12,656,043...12,701,742
|
|
|
G |
Rpe65 |
retinoid isomerohydrolase RPE65 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 20 |
OMIM ClinVar |
PMID:4492281 PMID:9326927 PMID:9326941 PMID:9501220 PMID:9536098 PMID:9801879 PMID:9843205 PMID:10090910 PMID:10766140 PMID:10937591 PMID:11035546 PMID:11095629 PMID:11264131 PMID:11462243 PMID:11786058 PMID:12960219 PMID:13616783 PMID:14962443 PMID:14971589 PMID:15024725 PMID:15512997 PMID:15557452 PMID:15837919 PMID:16123401 PMID:16123440 PMID:16150724 PMID:16199547 PMID:16205573 PMID:16754667 PMID:16828753 PMID:17197551 PMID:17576681 PMID:17724218 PMID:17964524 PMID:18055820 PMID:18441371 PMID:18539930 PMID:18599565 PMID:18632300 PMID:18682808 PMID:18722466 PMID:19117922 PMID:19431183 PMID:19753312 PMID:19854499 PMID:19920137 PMID:19959640 PMID:20043869 PMID:20079931 PMID:20604683 PMID:20683928 PMID:20801516 PMID:20811047 PMID:21151602 PMID:21153841 PMID:21211845 PMID:21602930 PMID:21654732 PMID:21911650 PMID:22334370 PMID:22509104 PMID:23591405 PMID:23661368 PMID:23661369 PMID:24066033 PMID:24265693 PMID:24849605 PMID:24997176 PMID:25097241 PMID:25257057 PMID:25324289 PMID:25356976 PMID:25495949 PMID:25741868 PMID:25752820 PMID:25972377 PMID:26024124 PMID:26047050 PMID:26355662 PMID:26364624 PMID:26427455 PMID:26605849 PMID:26626312 PMID:26656277 PMID:26906952 PMID:27102010 PMID:27307694 PMID:27535533 PMID:27874104 PMID:28041643 PMID:28041994 PMID:28130426 PMID:28181551 PMID:28224992 PMID:28492532 PMID:28559085 PMID:28714225 PMID:28838317 PMID:29033008 PMID:29186038 PMID:29332120 PMID:29641573 PMID:29659842 PMID:29681726 PMID:29947567 PMID:30025081 PMID:30268864 PMID:30576320 PMID:30628748 PMID:30653986 PMID:30718709 PMID:30870047 PMID:30924848 PMID:30996589 PMID:31054281 PMID:31273949 PMID:31379919 PMID:31456290 PMID:31580392 PMID:31630094 PMID:31736247 PMID:31878136 PMID:31957135 PMID:31964843 PMID:32037395 PMID:32165824 PMID:32347917 PMID:32367544 PMID:32865313 PMID:33308271 PMID:33472769 PMID:33494148 PMID:33629268 PMID:33952291 PMID:34492281 PMID:34830511 PMID:34906458 PMID:35129589 PMID:35836572 PMID:36909829 More...
|
|
NCBI chrNW_004936591:3,347,346...3,368,062
Ensembl chrNW_004936591:3,347,272...3,368,015
|
|
|
G |
Ofd1 |
OFD1 centriole and centriolar satellite protein |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 23 |
OMIM ClinVar |
PMID:10892847 PMID:22619378 PMID:25741868 PMID:26467025 PMID:28492532 PMID:35112477 More...
|
|
NCBI chrNW_004936470:3,292,961...3,331,915
Ensembl chrNW_004936470:3,292,249...3,331,800
|
|
|
G |
LOC101963575 |
eyes shut homolog |
|
ISO |
ClinVar Annotator: match by term: EYS-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 25 |
OMIM ClinVar |
PMID:2033377 PMID:9536098 PMID:9585594 PMID:16199547 PMID:17011488 PMID:17156103 PMID:17576681 PMID:18836446 PMID:18976725 PMID:18976726 PMID:20237254 PMID:20333770 PMID:20333771 PMID:20375346 PMID:20537394 PMID:21069908 PMID:21179430 PMID:21217109 PMID:21519034 PMID:22164218 PMID:22302105 PMID:22334370 PMID:22363543 PMID:22581970 PMID:23105016 PMID:23421333 PMID:23591405 PMID:23757202 PMID:24033266 PMID:24265693 PMID:24474277 PMID:24618324 PMID:24652164 PMID:24670872 PMID:24938718 PMID:25096270 PMID:25097241 PMID:25133751 PMID:25268133 PMID:25324289 PMID:25356976 PMID:25366773 PMID:25412400 PMID:25491159 PMID:25692139 PMID:25741868 PMID:25753737 PMID:26103963 PMID:26155838 PMID:26161267 PMID:26261414 PMID:26355662 PMID:26593283 PMID:26667666 PMID:26787102 PMID:26806561 PMID:26872967 PMID:27208204 PMID:27353947 PMID:27375351 PMID:27658286 PMID:27735924 PMID:28041643 PMID:28251098 PMID:28492532 PMID:28559085 PMID:28704921 PMID:28763560 PMID:28838317 PMID:29068140 PMID:29074561 PMID:29159838 PMID:29550188 PMID:29625443 PMID:29641573 PMID:29785639 PMID:30153090 PMID:30337596 PMID:30487145 PMID:30513137 PMID:30543658 PMID:30718709 PMID:30804660 PMID:30902645 PMID:31054281 PMID:31074760 PMID:31087526 PMID:31106028 PMID:31144483 PMID:31213501 PMID:31456290 PMID:31725169 PMID:31814702 PMID:31872526 PMID:31960602 PMID:31964843 PMID:32036094 PMID:32037395 PMID:32218477 PMID:32483926 PMID:32531858 PMID:32581362 PMID:32675063 PMID:32728228 PMID:33090715 PMID:33247286 PMID:33514863 PMID:33576794 PMID:33691693 PMID:33749171 PMID:33833316 PMID:33946315 PMID:34178978 PMID:34689181 PMID:34721897 PMID:34906470 PMID:35672425 PMID:35836572 PMID:36259723 PMID:36284460 PMID:36460718 PMID:36464167 PMID:36764454 PMID:36819107 PMID:36909829 More...
|
|
NCBI chrNW_004936476:158,391...1,289,639
|
|
G |
Phf3 |
PHD finger protein 3 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 25 |
ClinVar |
PMID:17011488 PMID:18976725 PMID:20237254 PMID:20333770 PMID:20537394 PMID:21069908 PMID:21179430 PMID:21519034 PMID:22302105 PMID:22363543 PMID:22581970 PMID:23591405 PMID:23757202 PMID:24474277 PMID:24652164 PMID:24938718 PMID:25097241 PMID:25133751 PMID:25324289 PMID:25356976 PMID:25366773 PMID:25491159 PMID:25741868 PMID:26161267 PMID:26261414 PMID:26667666 PMID:26787102 PMID:26872967 PMID:27208204 PMID:27735924 PMID:28041643 PMID:28492532 PMID:28704921 PMID:28763560 PMID:29068140 PMID:29074561 PMID:29159838 PMID:29550188 PMID:29641573 PMID:30337596 PMID:30543658 PMID:30718709 PMID:30804660 PMID:31054281 PMID:31074760 PMID:31087526 PMID:31144483 PMID:31213501 PMID:31456290 PMID:31725169 PMID:31814702 PMID:32036094 PMID:32037395 PMID:32531858 PMID:32675063 PMID:32728228 PMID:33090715 PMID:33247286 PMID:33576794 PMID:33691693 PMID:33749171 PMID:33833316 PMID:33946315 PMID:34178978 PMID:34689181 PMID:34906470 PMID:35672425 PMID:36764454 PMID:36819107 More...
|
|
NCBI chrNW_004936476:1,295,697...1,380,608
Ensembl chrNW_004936476:1,296,423...1,368,411
|
|
|
G |
Cdh1 |
cadherin 1 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 26 |
ClinVar |
PMID:24728327 PMID:25326637 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28569743 PMID:30287823 PMID:30311375 PMID:30982232 PMID:33471991 More...
|
|
NCBI chrNW_004936475:18,990,529...19,065,954
Ensembl chrNW_004936475:18,990,474...19,067,203
|
|
G |
Cerkl |
ceramide kinase like |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 26 |
OMIM ClinVar |
PMID:9536098 PMID:14681825 PMID:15708351 PMID:16199547 PMID:17576681 PMID:18055789 PMID:18978954 PMID:19501188 PMID:19578027 PMID:19667359 PMID:20554613 PMID:21151602 PMID:22164218 PMID:23105016 PMID:23591405 PMID:23661369 PMID:24043777 PMID:24123366 PMID:24498393 PMID:24547929 PMID:24625443 PMID:24705292 PMID:24735978 PMID:24938718 PMID:25097241 PMID:25342276 PMID:25356976 PMID:25741868 PMID:25999674 PMID:26103963 PMID:26355662 PMID:26766544 PMID:27208204 PMID:27813578 PMID:27898983 PMID:28041643 PMID:28130426 PMID:28341476 PMID:28492532 PMID:28559085 PMID:28838317 PMID:29068140 PMID:29555955 PMID:30029497 PMID:30054919 PMID:30337596 PMID:30718709 PMID:30902645 PMID:31054281 PMID:31106028 PMID:31456290 PMID:31736247 PMID:31816670 PMID:32037395 PMID:32531858 PMID:33090715 PMID:33322828 PMID:33749171 PMID:33921607 PMID:34315337 PMID:34906470 PMID:35119454 PMID:35318874 PMID:36909829 PMID:221642182 More...
|
|
NCBI chrNW_004936509:10,294,247...10,404,743
Ensembl chrNW_004936509:10,294,988...10,404,609
|
|
G |
Itga4 |
integrin subunit alpha 4 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 26 |
ClinVar |
PMID:24938718 PMID:25741868 PMID:28492532 PMID:29555955 PMID:31736247 |
|
NCBI chrNW_004936509:10,215,283...10,293,653
Ensembl chrNW_004936509:10,215,283...10,292,252
|
|
|
G |
Nrl |
neural retina leucine zipper |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 27 |
OMIM ClinVar |
PMID:10192380 PMID:11039579 PMID:11385710 PMID:11694879 PMID:11879142 PMID:12796249 PMID:15591106 PMID:17335001 PMID:17374726 PMID:21981118 PMID:25412400 PMID:25741868 PMID:27732723 PMID:28492532 PMID:29385733 PMID:31456290 PMID:36819107 More...
|
|
NCBI chrNW_004936722:448,006...454,064
Ensembl chrNW_004936722:447,967...454,553
|
|
G |
Pck2 |
phosphoenolpyruvate carboxykinase 2, mitochondrial |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 27 |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936722:428,473...450,452
Ensembl chrNW_004936722:428,307...437,328
|
|
|
G |
Fam161a |
FAM161 centrosomal protein A |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 28 |
OMIM ClinVar |
PMID:9536098 PMID:10507729 PMID:16199547 PMID:17576681 PMID:20705278 PMID:20705279 PMID:23167750 PMID:23591405 PMID:24520187 PMID:24651477 PMID:25007332 PMID:25097241 PMID:25525159 PMID:25741868 PMID:25999674 PMID:26113502 PMID:26355662 PMID:26574802 PMID:27208204 PMID:28492532 PMID:28559085 PMID:28945494 PMID:30718709 PMID:31236346 PMID:32531858 PMID:34906470 More...
|
|
NCBI chrNW_004936491:7,202,877...7,221,493
Ensembl chrNW_004936491:7,212,194...7,221,618
|
|
|
G |
Cfap47 |
cilia and flagella associated protein 47 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 3 |
ClinVar |
|
|
NCBI chrNW_004936502:3,254,001...3,630,408
|
|
G |
Dynlt3 |
dynein light chain Tctex-type 3 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 3 |
ClinVar |
|
|
NCBI chrNW_004936502:4,690,810...4,701,615
Ensembl chrNW_004936502:4,690,776...4,701,750
|
|
G |
Iqcb1 |
IQ motif containing B1 |
severity |
ISO |
|
RGD |
PMID:21857984 PMID:22183348 |
RGD:11352374 RGD:11537386 |
NCBI chrNW_004936536:8,164,120...8,213,690
Ensembl chrNW_004936536:8,163,554...8,213,708
|
|
G |
Lancl3 |
LanC like family member 3 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 3 |
ClinVar |
|
|
NCBI chrNW_004936502:4,419,279...4,522,025
Ensembl chrNW_004936502:4,419,474...4,520,795
|
|
G |
LOC101966992 |
cytochrome b-245 heavy chain |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 3 |
ClinVar |
|
|
NCBI chrNW_004936502:4,631,750...4,676,686
Ensembl chrNW_004936502:4,635,149...4,676,904
|
|
G |
LOC120885883 |
huntingtin-interacting protein M |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 3 |
ClinVar |
|
|
|
|
G |
Otc |
ornithine transcarbamylase |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 3 |
ClinVar |
|
|
NCBI chrNW_004936502:5,234,253...5,291,891
Ensembl chrNW_004936502:5,234,253...5,291,891
|
|
G |
Prrg1 |
proline rich and Gla domain 1 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 3 |
ClinVar |
|
|
NCBI chrNW_004936502:4,189,283...4,288,089
Ensembl chrNW_004936502:4,189,254...4,291,140
|
|
G |
Rp2 |
RP2 activator of ARL3 GTPase |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 3 |
ClinVar |
PMID:9536098 PMID:17576681 PMID:20625056 PMID:23150612 PMID:25741868 PMID:28492532 PMID:28714225 PMID:32244552 More...
|
|
NCBI chrNW_004936502:12,656,187...12,701,689
Ensembl chrNW_004936502:12,656,043...12,701,742
|
|
G |
Rpgr |
retinitis pigmentosa GTPase regulator |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 3 |
OMIM ClinVar |
PMID:7611300 PMID:8673101 PMID:8817343 PMID:9326322 PMID:9399904 PMID:9536098 PMID:9855162 PMID:10401007 PMID:10482958 PMID:10932196 PMID:10937588 PMID:10970770 PMID:11754050 PMID:11754051 PMID:11857109 PMID:11875055 PMID:11992260 PMID:12160730 PMID:12402343 PMID:12657579 PMID:14564670 PMID:15734019 PMID:16055928 PMID:16387007 PMID:16936086 PMID:16969763 PMID:17195164 PMID:17405150 PMID:17480003 PMID:17576681 PMID:17724181 PMID:18332319 PMID:18552978 PMID:19815619 PMID:19893586 PMID:20631154 PMID:21326217 PMID:21866333 PMID:22264887 PMID:23150612 PMID:23213406 PMID:23372056 PMID:23681342 PMID:24033266 PMID:25352739 PMID:25356976 PMID:25741868 PMID:25741869 PMID:26143542 PMID:26261414 PMID:27620828 PMID:28322733 PMID:28492532 PMID:29276052 PMID:29528978 PMID:29721948 PMID:29785639 PMID:30029497 PMID:30105367 PMID:30193314 PMID:30289068 PMID:30567410 PMID:30622176 PMID:31456290 PMID:31645972 PMID:31804667 PMID:31953110 PMID:31960602 PMID:32679846 PMID:32702353 PMID:33546218 PMID:34828430 PMID:34906470 PMID:34985506 More...
|
|
NCBI chrNW_004936502:5,163,164...5,212,940
|
|
G |
Rpgrip1l |
RPGRIP1 like |
severity |
ISO |
DNA:polymorphism:cds:p.R744Q (rs2302677)(human) |
RGD |
PMID:22183348 |
RGD:11352374 |
NCBI chrNW_004936475:6,219,187...6,321,612
Ensembl chrNW_004936475:6,215,475...6,321,618
|
|
G |
Srpx |
sushi repeat containing protein X-linked |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 3 |
ClinVar |
|
|
NCBI chrNW_004936502:5,010,692...5,107,221
Ensembl chrNW_004936502:5,010,682...5,107,254
|
|
G |
Sytl5 |
synaptotagmin like 5 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 3 |
ClinVar |
|
|
NCBI chrNW_004936502:4,873,750...4,987,742
Ensembl chrNW_004936502:4,750,233...4,987,887
|
|
G |
Tspan7 |
tetraspanin 7 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 3 |
ClinVar |
|
|
NCBI chrNW_004936502:5,416,454...5,538,870
Ensembl chrNW_004936502:5,416,454...5,538,905
|
|
G |
Xk |
X-linked Kx blood group antigen, Kell and VPS13A binding protein |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 3 |
ClinVar |
|
|
NCBI chrNW_004936502:4,532,100...4,584,931
Ensembl chrNW_004936502:4,532,100...4,587,439
|
|
|
G |
Fscn2 |
fascin actin-bundling protein 2, retinal |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 30 |
OMIM ClinVar |
PMID:9536098 PMID:11527955 PMID:14609921 PMID:15994872 PMID:16280978 PMID:16799052 PMID:17251446 PMID:17576681 PMID:18450588 PMID:25741868 PMID:28492532 PMID:34996991 More...
|
|
NCBI chrNW_004936594:5,184,133...5,195,340
Ensembl chrNW_004936594:5,184,628...5,191,985
|
|
|
G |
Topors |
TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 31 | ClinVar Annotator: match by term: TOPORS-related condition |
OMIM ClinVar |
PMID:16189705 PMID:17924349 PMID:18509552 PMID:19373681 PMID:22334370 PMID:23950152 PMID:25741868 PMID:26720483 PMID:28076437 PMID:28492532 More...
|
|
NCBI chrNW_004936524:1,219,101...1,229,937
Ensembl chrNW_004936524:1,219,907...1,229,723
|
|
|
G |
Clcc1 |
chloride channel CLIC like 1 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 32 |
OMIM ClinVar |
PMID:16189710 PMID:28492532 PMID:30157172 |
|
NCBI chrNW_004936704:518,040...539,526
Ensembl chrNW_004936704:517,707...539,585
|
|
|
G |
Sema4a |
semaphorin 4A |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 35 |
OMIM ClinVar |
PMID:16199541 PMID:22956603 PMID:23360997 PMID:24033266 PMID:25307848 PMID:25637381 PMID:25741868 PMID:28492532 PMID:28805479 PMID:32483926 PMID:32531858 More...
|
|
NCBI chrNW_004936580:5,404,380...5,431,183
Ensembl chrNW_004936580:5,406,194...5,431,185
|
|
|
G |
Cygb |
cytoglobin |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 36 |
ClinVar |
PMID:16938425 PMID:20507925 PMID:23661369 PMID:23805042 PMID:24992209 PMID:25741868 PMID:28181551 PMID:28492532 PMID:29785639 More...
|
|
NCBI chrNW_004936594:1,602,436...1,613,783
Ensembl chrNW_004936594:1,604,710...1,613,783
|
|
G |
Prcd |
photoreceptor disc component |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 36 |
OMIM ClinVar |
PMID:16938425 PMID:20507925 PMID:23661369 PMID:23805042 PMID:24992209 PMID:25741868 PMID:28181551 PMID:28492532 PMID:29785639 More...
|
|
NCBI chrNW_004936594:1,615,165...1,628,455
Ensembl chrNW_004936594:1,616,794...1,619,049
|
|
|
G |
Nr2e3 |
nuclear receptor subfamily 2 group E member 3 |
|
ISO |
ClinVar Annotator: match by term: NR2E3-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 37 |
OMIM ClinVar |
PMID:10655056 PMID:11071390 PMID:11773633 PMID:12963616 PMID:15459973 PMID:15689355 PMID:16024868 PMID:16199547 PMID:16225923 PMID:17438525 PMID:17564971 PMID:17601449 PMID:17982421 PMID:18294254 PMID:18436841 PMID:18835469 PMID:19006237 PMID:19139342 PMID:19273793 PMID:19718767 PMID:19823680 PMID:19898638 PMID:19933183 PMID:21217109 PMID:22711506 PMID:23039133 PMID:23105016 PMID:23374571 PMID:23591405 PMID:23989059 PMID:24033266 PMID:24069298 PMID:24265693 PMID:24339724 PMID:24474277 PMID:25079116 PMID:25097241 PMID:25326637 PMID:25703721 PMID:25741868 PMID:26355662 PMID:26894784 PMID:26910043 PMID:27522502 PMID:27573156 PMID:27874104 PMID:28041643 PMID:28224992 PMID:28300834 PMID:28492532 PMID:28559085 PMID:28771251 PMID:28944237 PMID:29193891 PMID:29343940 PMID:29431110 PMID:30054919 PMID:30324420 PMID:30543658 PMID:30718709 PMID:31213501 PMID:32037395 PMID:32679203 PMID:33781268 PMID:34906470 PMID:36909829 More...
|
|
NCBI chrNW_004936471:31,229,322...31,236,093
Ensembl chrNW_004936471:31,229,564...31,235,654
|
|
|
G |
Mertk |
MER proto-oncogene, tyrosine kinase |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 38 |
OMIM ClinVar |
PMID:9536098 PMID:11062461 PMID:11727200 PMID:15111602 PMID:16199547 PMID:16714263 PMID:17301963 PMID:17576681 PMID:19956407 PMID:20300561 PMID:21677792 PMID:22180149 PMID:22939401 PMID:24033266 PMID:24265693 PMID:24938718 PMID:25097241 PMID:25324289 PMID:25326637 PMID:25741868 PMID:26263531 PMID:26355662 PMID:26872967 PMID:28041643 PMID:28462455 PMID:28492532 PMID:28559085 PMID:29068140 PMID:29659094 PMID:30054919 PMID:30718709 PMID:30851773 PMID:32036094 PMID:33353011 PMID:34906470 PMID:36909829 More...
|
|
NCBI chrNW_004936783:607,425...704,879
Ensembl chrNW_004936783:607,382...704,889
|
|
|
G |
Ush2a |
usherin |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 39 |
OMIM ClinVar |
PMID:1968399 PMID:2525289 PMID:2564938 PMID:9536098 PMID:9624053 PMID:10090909 PMID:10729113 PMID:10738000 PMID:10775529 PMID:10909849 PMID:11311042 PMID:11402400 PMID:12112664 PMID:12427073 PMID:12525556 PMID:14676276 PMID:14970843 PMID:15015129 PMID:15025721 PMID:15043528 PMID:15241801 PMID:15325563 PMID:15326663 PMID:15671307 PMID:15823922 PMID:16098008 PMID:16114888 PMID:16199547 PMID:16963483 PMID:17085681 PMID:17296898 PMID:17405132 PMID:17576681 PMID:18273898 PMID:18281613 PMID:18452394 PMID:18463160 PMID:18484607 PMID:18641288 PMID:18665192 PMID:18665195 PMID:18723146 PMID:19023448 PMID:19129697 PMID:19683999 PMID:19737284 PMID:19788668 PMID:19881469 PMID:20052763 PMID:20145675 PMID:20301442 PMID:20301515 PMID:20309401 PMID:20440071 PMID:20497194 PMID:20507924 PMID:20513143 PMID:20544672 PMID:20591486 PMID:20596040 PMID:20613545 PMID:20801516 PMID:21147909 PMID:21151602 PMID:21228398 PMID:21487335 PMID:21569298 PMID:21593743 PMID:21686329 PMID:21738395 PMID:21909055 PMID:22004887 PMID:22009552 PMID:22025579 PMID:22135276 PMID:22334370 PMID:22563300 PMID:22581970 PMID:22681893 PMID:22952768 PMID:23029027 PMID:23352160 PMID:23591405 PMID:23661368 PMID:23661369 PMID:23737954 PMID:23755871 PMID:23767834 PMID:23804846 PMID:23924366 PMID:23940504 PMID:23967202 PMID:23991284 PMID:24033266 PMID:24043777 PMID:24088041 PMID:24154662 PMID:24160897 PMID:24164807 PMID:24227914 PMID:24265693 PMID:24367894 PMID:24498627 PMID:24516651 PMID:24603341 PMID:24607488 PMID:24618324 PMID:24625443 PMID:24853665 PMID:24875298 PMID:24901346 PMID:24938718 PMID:24944099 PMID:25078356 PMID:25097241 PMID:25133613 PMID:25133751 PMID:25211151 PMID:25252889 PMID:25261458 PMID:25262649 PMID:25268133 PMID:25324289 PMID:25326637 PMID:25333064 PMID:25342620 PMID:25356976 PMID:25366773 PMID:25373420 PMID:25375654 PMID:25388789 PMID:25404053 PMID:25412400 PMID:25425308 PMID:25445212 PMID:25468891 PMID:25472526 PMID:25474345 PMID:25521520 PMID:25525159 PMID:25558175 PMID:25575603 PMID:25649381 PMID:25741868 PMID:25804404 PMID:25823529 PMID:25910913 PMID:25991456 PMID:25999674 PMID:26075083 PMID:26164827 PMID:26261414 PMID:26306921 PMID:26310143 PMID:26338283 PMID:26346818 PMID:26352687 PMID:26355662 PMID:26377068 PMID:26416264 PMID:26445815 PMID:26467025 PMID:26496393 PMID:26629787 PMID:26633545 PMID:26654877 PMID:26667666 PMID:26747767 PMID:26764160 PMID:26766544 PMID:26806561 PMID:26856745 PMID:26868535 PMID:26872967 PMID:26927203 PMID:26969326 PMID:26992781 PMID:27032803 PMID:27057829 PMID:27145477 PMID:27157150 PMID:27160483 PMID:27208204 PMID:27318125 PMID:27344577 PMID:27353947 PMID:27460420 PMID:27583663 PMID:27596865 PMID:27624628 PMID:27884173 PMID:27957503 PMID:28000701 PMID:28005958 PMID:28041643 PMID:28118666 PMID:28127548 PMID:28130426 PMID:28157192 PMID:28181551 PMID:28224992 PMID:28430325 PMID:28492532 PMID:28512305 PMID:28559085 PMID:28653555 PMID:28678594 PMID:28704108 PMID:28714225 PMID:28761320 PMID:28838317 PMID:28894305 PMID:28912962 PMID:28944237 PMID:28945494 PMID:28981474 PMID:28984810 PMID:29068140 PMID:29074561 PMID:29099798 PMID:29142287 PMID:29151245 PMID:29178603 PMID:29196752 PMID:29276052 PMID:29283788 PMID:29293505 PMID:29343940 PMID:29490346 PMID:29588463 PMID:29625443 PMID:29641573 PMID:29655801 PMID:29785639 PMID:29847639 PMID:29899460 PMID:29912909 PMID:29940899 PMID:29953849 PMID:29986705 PMID:30029497 PMID:30073356 PMID:30081015 PMID:30190494 PMID:30245029 PMID:30280194 PMID:30303587 PMID:30311386 PMID:30337596 PMID:30358468 PMID:30390381 PMID:30459346 PMID:30543658 PMID:30718709 PMID:30733538 PMID:30796641 PMID:30826590 PMID:30870047 PMID:30872814 PMID:30902645 PMID:30924848 PMID:30948794 PMID:31031587 PMID:31047384 PMID:31054281 PMID:31106028 PMID:31144483 PMID:31152317 PMID:31213501 PMID:31231422 PMID:31266775 PMID:31370859 PMID:31429209 PMID:31456290 PMID:31541171 PMID:31589614 PMID:31674169 PMID:31699113 PMID:31736247 PMID:31766479 PMID:31816670 PMID:31817543 PMID:31827275 PMID:31836858 PMID:31872526 PMID:31877679 PMID:31904091 PMID:31960602 PMID:31998945 PMID:32036094 PMID:32037395 PMID:32093671 PMID:32098976 PMID:32100970 PMID:32176120 PMID:32188678 PMID:32203226 PMID:32319668 PMID:32467589 PMID:32531858 PMID:32552793 PMID:32579692 PMID:32581362 PMID:32637036 PMID:32646269 PMID:32675063 PMID:32707200 PMID:32767731 PMID:32893482 PMID:33089500 PMID:33090715 PMID:33105608 PMID:33105617 PMID:33111345 PMID:33111992 PMID:33124170 PMID:33247286 PMID:33297549 PMID:33302505 PMID:33576794 PMID:33623043 PMID:33629268 PMID:33691693 PMID:33708524 PMID:33749171 PMID:33781268 PMID:33926394 PMID:33946315 PMID:34008892 PMID:34031601 PMID:34130719 PMID:34148116 PMID:34203883 PMID:34203967 PMID:34327195 PMID:34416374 PMID:34426522 PMID:34448047 PMID:34599368 PMID:34638692 PMID:34781295 PMID:34837038 PMID:34906470 PMID:34948090 PMID:35076463 PMID:35106950 PMID:35266249 PMID:35672425 PMID:35836572 PMID:36011334 PMID:36284460 PMID:36314366 PMID:36362125 PMID:36460718 PMID:36785559 PMID:36909829 PMID:37217489 PMID:37322672 More...
|
|
NCBI chrNW_004936628:2,123,917...2,859,958
Ensembl chrNW_004936628:2,123,957...2,858,872
|
|
|
G |
Rho |
rhodopsin |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 4 | ClinVar Annotator: match by term: Retinitis pigmentosa 4, autosomal recessive |
OMIM ClinVar |
PMID:1301135 PMID:1302614 PMID:1303237 PMID:1356370 PMID:1418997 PMID:1484692 PMID:1580841 PMID:1765377 PMID:1783387 PMID:1808803 PMID:1833777 PMID:1840561 PMID:1862076 PMID:1882937 PMID:1897520 PMID:1924344 PMID:1929926 PMID:1985460 PMID:1987955 PMID:1987956 PMID:2137202 PMID:2215617 PMID:2239971 PMID:2333895 PMID:2613244 PMID:7523628 PMID:7724183 PMID:7819178 PMID:7981701 PMID:7987326 PMID:7987331 PMID:7987385 PMID:8045708 PMID:8081400 PMID:8088850 PMID:8240107 PMID:8253795 PMID:8317502 PMID:8328469 PMID:8353500 PMID:8401533 PMID:8406457 PMID:8554077 PMID:8841304 PMID:8905849 PMID:8943080 PMID:9197578 PMID:9342608 PMID:9380676 PMID:9452035 PMID:9483582 PMID:9536098 PMID:9724753 PMID:9810568 PMID:10051572 PMID:10874327 PMID:10967073 PMID:10980774 PMID:11094174 PMID:11139241 PMID:11141431 PMID:11879142 PMID:11910130 PMID:12091393 PMID:12660238 PMID:12871954 PMID:12966518 PMID:14769795 PMID:15126168 PMID:15145060 PMID:15232620 PMID:15509574 PMID:16170112 PMID:16737970 PMID:17014888 PMID:17488458 PMID:17576681 PMID:18175313 PMID:19085385 PMID:19913029 PMID:19933196 PMID:19958124 PMID:19960070 PMID:20164459 PMID:20525296 PMID:20532191 PMID:20555336 PMID:20805032 PMID:20832389 PMID:21077204 PMID:21094163 PMID:21174529 PMID:21217109 PMID:21219898 PMID:21352497 PMID:21357407 PMID:21677794 PMID:21922596 PMID:22110080 PMID:22252712 PMID:22321012 PMID:22323724 PMID:22334370 PMID:22791210 PMID:22956602 PMID:22968130 PMID:23221340 PMID:23288993 PMID:23484092 PMID:23591405 PMID:23625926 PMID:24265693 PMID:24520188 PMID:24853414 PMID:24935155 PMID:24938718 PMID:25096327 PMID:25097241 PMID:25101269 PMID:25221422 PMID:25356976 PMID:25359768 PMID:25366773 PMID:25408095 PMID:25525159 PMID:25741868 PMID:25741869 PMID:25999674 PMID:26161267 PMID:26202387 PMID:26887858 PMID:26962691 PMID:27624628 PMID:27694816 PMID:28041643 PMID:28045043 PMID:28076437 PMID:28341476 PMID:28492532 PMID:28559085 PMID:28981474 PMID:29068140 PMID:29099798 PMID:29453956 PMID:29463953 PMID:29847639 PMID:29890221 PMID:30029497 PMID:30240733 PMID:30538586 PMID:30718709 PMID:30972525 PMID:30977563 PMID:31087526 PMID:31100078 PMID:31213501 PMID:31319082 PMID:31456290 PMID:31877679 PMID:31908405 PMID:32013026 PMID:32037395 PMID:32531858 PMID:32581362 PMID:33247286 PMID:33576794 PMID:34906470 PMID:35052368 PMID:36909829 More...
|
|
NCBI chrNW_004936602:896,730...901,480
Ensembl chrNW_004936602:894,617...901,664
|
|
|
G |
Atp5me |
ATP synthase membrane subunit e |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 40 |
ClinVar |
|
|
NCBI chrNW_004936477:22,416,505...22,417,543
Ensembl chrNW_004936477:22,416,539...22,417,543
|
|
G |
Myl5 |
myosin light chain 5 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 40 |
ClinVar |
|
|
NCBI chrNW_004936477:22,410,303...22,416,940
Ensembl chrNW_004936477:22,410,270...22,413,184
|
|
G |
Pde6b |
phosphodiesterase 6B |
|
ISO |
ClinVar Annotator: match by term: PDE6B-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 40 |
OMIM ClinVar |
PMID:7599633 PMID:7724547 PMID:8394174 PMID:8595886 PMID:9536098 PMID:9543643 PMID:10234513 PMID:12525556 PMID:16199547 PMID:17267005 PMID:17576681 PMID:18310263 PMID:18723146 PMID:18854872 PMID:20591486 PMID:21147909 PMID:21655355 PMID:22334370 PMID:24033266 PMID:25097241 PMID:25356976 PMID:25472526 PMID:25741868 PMID:25823529 PMID:25827439 PMID:26155838 PMID:26667666 PMID:26868535 PMID:26872967 PMID:27596865 PMID:28041643 PMID:28130426 PMID:28224992 PMID:28492532 PMID:28559085 PMID:28981474 PMID:29472945 PMID:29785639 PMID:30029497 PMID:30718709 PMID:30924848 PMID:30998820 PMID:31054281 PMID:31630094 PMID:31877679 PMID:32531858 PMID:33090715 PMID:33673512 PMID:34906470 PMID:35836572 PMID:36460718 PMID:36819107 More...
|
|
NCBI chrNW_004936477:22,418,037...22,472,251
Ensembl chrNW_004936477:22,417,453...22,472,185
|
|
G |
Slc49a3 |
solute carrier family 49 member 3 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 40 |
ClinVar |
|
|
NCBI chrNW_004936477:22,403,186...22,410,563
Ensembl chrNW_004936477:22,403,239...22,409,878
|
|
|
G |
Prom1 |
prominin 1 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 41 |
OMIM ClinVar |
PMID:9536098 PMID:10205271 PMID:10587575 PMID:16199547 PMID:17576681 PMID:17605048 PMID:19718270 PMID:20042663 PMID:24154662 PMID:24516651 PMID:24938718 PMID:25356976 PMID:25472526 PMID:25474345 PMID:25741868 PMID:25910913 PMID:25999674 PMID:26103963 PMID:26261540 PMID:26355662 PMID:26872967 PMID:27874104 PMID:28041643 PMID:28095140 PMID:28418496 PMID:28492532 PMID:29343940 PMID:29555955 PMID:30578500 PMID:30588538 PMID:31054281 PMID:31129250 PMID:31199449 PMID:32531858 PMID:36909829 More...
|
|
NCBI chrNW_004936477:11,878,261...12,017,228
Ensembl chrNW_004936477:11,878,012...12,018,177
|
|
|
G |
Klhl7 |
kelch like family member 7 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 42 |
OMIM ClinVar |
PMID:1872134 PMID:9536098 PMID:17576681 PMID:19520207 PMID:21828050 PMID:22084217 PMID:25741868 PMID:28041643 PMID:28492532 PMID:31856884 PMID:35670385 More...
|
|
NCBI chrNW_004936478:279,580...337,655
Ensembl chrNW_004936478:279,067...337,752
|
|
|
G |
Pde6a |
phosphodiesterase 6A |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 43 |
OMIM ClinVar |
PMID:7493036 PMID:9536098 PMID:10393062 PMID:16199547 PMID:17110911 PMID:17576681 PMID:18849587 PMID:21039428 PMID:21147909 PMID:21151602 PMID:22128245 PMID:23105016 PMID:23847139 PMID:24265693 PMID:24339724 PMID:24416769 PMID:24512775 PMID:25182519 PMID:25741868 PMID:25775262 PMID:25999674 PMID:26188004 PMID:26306921 PMID:26321862 PMID:26868535 PMID:27208204 PMID:27551530 PMID:27820873 PMID:27917291 PMID:28041643 PMID:28157543 PMID:28492532 PMID:29343940 PMID:29693493 PMID:30029497 PMID:30337596 PMID:30543658 PMID:30718709 PMID:30998820 PMID:31213501 PMID:31736247 PMID:31872526 PMID:33057649 PMID:33090715 PMID:33946315 PMID:34906470 PMID:34926197 PMID:35533076 PMID:36819107 More...
|
|
NCBI chrNW_004936504:5,018,171...5,088,333
Ensembl chrNW_004936504:5,018,064...5,092,024
|
|
|
G |
Rgr |
retinal G protein coupled receptor |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 44 |
OMIM ClinVar |
PMID:9536098 PMID:10581022 PMID:17576681 PMID:25741868 PMID:27623334 PMID:27748892 PMID:28041643 PMID:28492532 PMID:28838317 PMID:30337596 PMID:30347075 PMID:32531858 PMID:33546218 PMID:34229535 More...
|
|
NCBI chrNW_004936767:855,811...866,941
Ensembl chrNW_004936767:855,856...866,554
|
|
|
G |
Cngb1 |
cyclic nucleotide gated channel subunit beta 1 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 45 |
OMIM ClinVar |
PMID:9536098 PMID:11379879 PMID:15557452 PMID:16199547 PMID:17032466 PMID:17576681 PMID:21147909 PMID:21987686 PMID:23105016 PMID:23484092 PMID:23661369 PMID:24043777 PMID:24339724 PMID:24938718 PMID:25324289 PMID:25412400 PMID:25741868 PMID:25943428 PMID:25999674 PMID:26355662 PMID:26667666 PMID:26894784 PMID:27854218 PMID:27874104 PMID:28005958 PMID:28041643 PMID:28056120 PMID:28492532 PMID:28559085 PMID:29068140 PMID:29202463 PMID:29597005 PMID:29800053 PMID:29912909 PMID:30718709 PMID:31054281 PMID:31570810 PMID:31725169 PMID:31931872 PMID:31960602 PMID:31980526 PMID:32037395 PMID:32531858 PMID:32581362 PMID:33546218 PMID:33576794 PMID:33847019 PMID:33946315 PMID:34906470 PMID:35743231 PMID:36909829 More...
|
|
NCBI chrNW_004936475:9,844,438...9,908,009
|
|
|
G |
Idh3b |
isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 46 |
OMIM ClinVar |
PMID:18806796 PMID:25741868 PMID:28492532 PMID:31736247 |
|
NCBI chrNW_004936485:16,033,287...16,038,097
Ensembl chrNW_004936485:16,033,128...16,042,821
|
|
|
G |
Sag |
S-antigen visual arrestin |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 47 |
OMIM ClinVar |
PMID:7670478 PMID:9452120 PMID:9501883 PMID:9536098 PMID:9565049 PMID:15234147 PMID:15295660 PMID:17200654 PMID:17576681 PMID:18175313 PMID:21151602 PMID:21447990 PMID:21922265 PMID:21987685 PMID:22419846 PMID:22665972 PMID:23591405 PMID:25268133 PMID:25741868 PMID:28492532 PMID:32531858 PMID:33047631 More...
|
|
NCBI chrNW_004936525:3,932,118...3,965,651
Ensembl chrNW_004936525:3,931,933...3,964,834
|
|
|
G |
Guca1b |
guanylate cyclase activator 1B |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 48 |
OMIM ClinVar |
PMID:15452722 PMID:15505030 PMID:22025579 PMID:25741868 PMID:26161267 PMID:28492532 PMID:33812995 More...
|
|
NCBI chrNW_004936476:17,679,505...17,688,970
Ensembl chrNW_004936476:17,679,500...17,691,037
|
|
|
G |
Cnga1 |
cyclic nucleotide gated channel subunit alpha 1 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 49 |
OMIM ClinVar |
PMID:7479749 PMID:12362048 PMID:15570217 PMID:18310263 PMID:23462753 PMID:24033266 PMID:24154662 PMID:24265693 PMID:25268133 PMID:25326637 PMID:25356976 PMID:25611614 PMID:25741868 PMID:25775262 PMID:26306921 PMID:26496393 PMID:26802146 PMID:28041643 PMID:28492532 PMID:28981474 PMID:29785639 PMID:30337596 PMID:30543658 PMID:30652268 PMID:30718709 PMID:32531858 PMID:36115851 More...
|
|
NCBI chrNW_004936482:14,091,343...14,107,793
Ensembl chrNW_004936482:14,091,913...14,107,787
|
|
G |
Cngb1 |
cyclic nucleotide gated channel subunit beta 1 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 49 |
ClinVar |
PMID:23661369 PMID:24938718 PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936475:9,844,438...9,908,009
|
|
|
G |
Best1 |
bestrophin 1 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 50 |
OMIM ClinVar |
PMID:9700209 PMID:19853238 PMID:21330666 PMID:24560797 PMID:25741868 PMID:26418331 PMID:26716959 PMID:28492532 PMID:28559085 PMID:29847639 PMID:30582078 PMID:30718709 PMID:32239196 PMID:36909829 More...
|
|
NCBI chrNW_004936581:1,120,681...1,132,226
Ensembl chrNW_004936581:1,120,474...1,132,230
|
|
G |
Fth1 |
ferritin heavy chain 1 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 50 |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936581:1,118,905...1,120,592
|
|
|
G |
Ttc8 |
tetratricopeptide repeat domain 8 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 51 |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:16308660 PMID:16877420 PMID:17576681 PMID:19797195 PMID:20177705 PMID:20451172 PMID:21044901 PMID:21052717 PMID:24033266 PMID:25097241 PMID:25741868 PMID:25776555 PMID:25999674 PMID:26195043 PMID:26401321 PMID:28492532 PMID:28914264 PMID:29030401 PMID:30718709 PMID:30886724 PMID:32962042 PMID:33138063 PMID:33964006 More...
|
|
NCBI chrNW_004936488:16,258,247...16,306,077
Ensembl chrNW_004936488:16,258,058...16,306,589
|
|
|
G |
Pcare |
photoreceptor cilium actin regulator |
|
ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy 23 | ClinVar Annotator: match by term: PCARE-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 54 |
OMIM ClinVar |
PMID:4543597 PMID:20398884 PMID:20398886 PMID:20811058 PMID:21412943 PMID:24339724 PMID:25741868 PMID:26496393 PMID:27353947 PMID:28041643 PMID:28492532 PMID:28763557 PMID:31725702 PMID:31819343 PMID:31872526 PMID:32312818 PMID:33546218 PMID:33576794 PMID:34906470 PMID:34964967 More...
|
|
NCBI chrNW_004936493:3,768,032...3,781,511
Ensembl chrNW_004936493:3,768,688...3,777,634
|
|
|
G |
Arl6 |
ADP ribosylation factor like GTPase 6 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 55 |
OMIM ClinVar |
PMID:15258860 PMID:17160889 PMID:19858128 PMID:19956407 PMID:20142850 PMID:20177705 PMID:22334370 PMID:25741868 PMID:27486776 PMID:28492532 PMID:31054281 PMID:31736247 PMID:32483926 More...
|
|
NCBI chrNW_004936666:3,077,006...3,102,469
Ensembl chrNW_004936666:3,076,778...3,103,649
|
|
|
G |
Impg2 |
interphotoreceptor matrix proteoglycan 2 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 56 |
OMIM ClinVar |
PMID:20673862 PMID:24876279 PMID:25741868 PMID:28492532 PMID:28559085 PMID:30718709 PMID:31736247 PMID:32531858 More...
|
|
NCBI chrNW_004936630:1,982,860...2,069,472
Ensembl chrNW_004936630:1,982,783...2,071,953
|
|
|
G |
Pde6g |
phosphodiesterase 6G |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 57 |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:20655036 PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936594:5,263,345...5,267,240
Ensembl chrNW_004936594:5,263,333...5,267,476
|
|
|
G |
Znf513 |
zinc finger protein 513 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 58 | ClinVar Annotator: match by term: ZNF513-related condition |
OMIM ClinVar |
PMID:20227676 PMID:20797688 PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936493:5,203,926...5,207,031
Ensembl chrNW_004936493:5,204,020...5,207,025
|
|
|
G |
Arid1a |
AT-rich interaction domain 1A |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 59 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936474:11,148,857...11,197,312
|
|
G |
Aunip |
aurora kinase A and ninein interacting protein |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 59 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936474:10,409,463...10,430,158
Ensembl chrNW_004936474:10,409,022...10,430,187
|
|
G |
Catsper4 |
cation channel sperm associated 4 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 59 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936474:10,707,630...10,719,367
Ensembl chrNW_004936474:10,707,630...10,719,248
|
|
G |
Cep85 |
centrosomal protein 85 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 59 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936474:10,747,025...10,775,959
Ensembl chrNW_004936474:10,747,839...10,775,630
|
|
G |
Cnksr1 |
connector enhancer of kinase suppressor of Ras 1 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 59 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936474:10,697,777...10,706,988
Ensembl chrNW_004936474:10,699,819...10,706,591
|
|
G |
Crybg2 |
crystallin beta-gamma domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 59 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936474:10,822,846...10,840,167
Ensembl chrNW_004936474:10,822,852...10,845,422
|
|
G |
Dhdds |
dehydrodolichyl diphosphate synthase subunit |
|
ISO |
ClinVar Annotator: match by term: Congenital disorder of glycosylation, type Ibb | ClinVar Annotator: match by term: Retinitis pigmentosa 59 |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:21295282 PMID:21295283 PMID:22110072 PMID:23590195 PMID:24033266 PMID:24078709 PMID:24664694 PMID:24664742 PMID:25066056 PMID:25255364 PMID:25541840 PMID:25741868 PMID:26261414 PMID:27343064 PMID:28130426 PMID:28454995 PMID:28492532 PMID:28542158 PMID:28559085 PMID:29100083 PMID:29276052 PMID:31047384 PMID:31440733 PMID:31456290 PMID:31780880 PMID:33798445 PMID:34034154 PMID:34182312 PMID:34275143 PMID:34382076 PMID:34906470 PMID:34906498 More...
|
|
NCBI chrNW_004936474:10,914,018...10,949,138
Ensembl chrNW_004936474:10,913,903...10,950,095
|
|
G |
Extl1 |
exostosin like glycosyltransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 59 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936474:10,568,649...10,580,597
Ensembl chrNW_004936474:10,568,603...10,580,632
|
|
G |
Fam110d |
family with sequence similarity 110 member D |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 59 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936474:10,682,107...10,685,721
Ensembl chrNW_004936474:10,683,979...10,685,074
|
|
G |
Gpatch3 |
G-patch domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 59 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936474:11,298,802...11,310,609
Ensembl chrNW_004936474:11,298,620...11,310,637
|
|
G |
Gpn2 |
GPN-loop GTPase 2 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 59 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936474:11,291,093...11,298,520
Ensembl chrNW_004936474:11,290,998...11,298,627
|
|
G |
Kdf1 |
keratinocyte differentiation factor 1 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 59 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936474:11,341,415...11,351,066
Ensembl chrNW_004936474:11,343,539...11,351,168
|
|
G |
Ldlrap1 |
low density lipoprotein receptor adaptor protein 1 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 59 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936474:10,196,228...10,219,137
Ensembl chrNW_004936474:10,196,211...10,221,777
|
|
G |
Lin28a |
lin-28 homolog A |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 59 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936474:10,896,153...10,909,247
|
|
G |
Man1c1 |
mannosidase alpha class 1C member 1 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 59 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936474:10,297,853...10,367,166
|
|
G |
Mtfr1l |
mitochondrial fission regulator 1 like |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 59 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936474:10,398,656...10,410,261
Ensembl chrNW_004936474:10,398,208...10,413,622
|
|
G |
Nr0b2 |
nuclear receptor subfamily 0 group B member 2 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 59 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936474:11,316,857...11,319,669
Ensembl chrNW_004936474:11,316,700...11,319,669
|
|
G |
Nudc |
nuclear distribution C, dynein complex regulator |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 59 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936474:11,327,986...11,341,357
Ensembl chrNW_004936474:11,327,942...11,343,672
|
|
G |
Pafah2 |
platelet activating factor acetylhydrolase 2 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 59 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936474:10,523,605...10,554,868
Ensembl chrNW_004936474:10,520,184...10,554,840
|
|
G |
Paqr7 |
progestin and adipoQ receptor family member 7 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 59 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936474:10,431,810...10,434,004
Ensembl chrNW_004936474:10,432,769...10,433,806
|
|
G |
Pdik1l |
PDLIM1 interacting kinase 1 like |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 59 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936474:10,641,399...10,650,638
Ensembl chrNW_004936474:10,641,399...10,650,754
|
|
G |
Pigv |
phosphatidylinositol glycan anchor biosynthesis class V |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 59 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936474:11,204,595...11,215,677
Ensembl chrNW_004936474:11,205,368...11,216,528
|
|
G |
Rps6ka1 |
ribosomal protein S6 kinase A1 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 59 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936474:10,996,867...11,030,504
Ensembl chrNW_004936474:10,996,813...11,030,557
|
|
G |
Selenon |
selenoprotein N |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 59 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936474:10,381,646...10,396,638
Ensembl chrNW_004936474:10,381,743...10,394,502
|
|
G |
Sfn |
stratifin |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 59 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936474:11,274,927...11,279,427
Ensembl chrNW_004936474:11,246,534...11,279,433
|
|
G |
Sh3bgrl3 |
SH3 domain binding glutamate rich protein like 3 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 59 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936474:10,776,700...10,778,299
Ensembl chrNW_004936474:10,776,725...10,778,299
|
|
G |
Slc30a2 |
solute carrier family 30 member 2 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 59 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936474:10,581,504...10,589,364
Ensembl chrNW_004936474:10,581,480...10,589,442
|
|
G |
Stmn1 |
stathmin 1 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 59 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936474:10,470,006...10,475,557
Ensembl chrNW_004936474:10,468,728...10,475,594
|
|
G |
Trim63 |
tripartite motif containing 63 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 59 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936474:10,598,571...10,610,197
Ensembl chrNW_004936474:10,598,561...10,633,001
|
|
G |
Ubxn11 |
UBX domain protein 11 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 59 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936474:10,778,367...10,800,805
Ensembl chrNW_004936474:10,778,990...10,797,617
|
|
G |
Zdhhc18 |
zinc finger DHHC-type palmitoyltransferase 18 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 59 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936474:11,246,540...11,272,167
Ensembl chrNW_004936474:11,245,734...11,270,391
|
|
G |
Znf593 |
zinc finger protein 593 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 59 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936474:10,691,090...10,692,517
Ensembl chrNW_004936474:10,691,252...10,694,734
|
|
G |
Znf683 |
zinc finger protein 683 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 59 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936474:10,851,249...10,859,092
|
|
|
G |
Rpgr |
retinitis pigmentosa GTPase regulator |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 6 |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936502:5,163,164...5,212,940
|
|
|
G |
Prpf6 |
pre-mRNA processing factor 6 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 60 |
OMIM ClinVar |
PMID:21549338 PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936514:11,175,410...11,220,928
Ensembl chrNW_004936514:11,175,526...11,220,241
|
|
|
G |
Clrn1 |
clarin 1 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 61 |
OMIM ClinVar |
PMID:7407589 PMID:9536098 PMID:11524702 PMID:12080385 PMID:12145752 PMID:14569126 PMID:15521980 PMID:16028794 PMID:17407589 PMID:17576681 PMID:17893653 PMID:18281613 PMID:19423712 PMID:19753315 PMID:21310491 PMID:22681893 PMID:22787034 PMID:22952768 PMID:23304067 PMID:24033266 PMID:24498627 PMID:24596593 PMID:25356976 PMID:25472526 PMID:25741868 PMID:25743179 PMID:26180195 PMID:26338283 PMID:27460420 PMID:28041643 PMID:28224992 PMID:28492532 PMID:29545425 PMID:30311386 PMID:31097578 PMID:31836858 PMID:31960602 PMID:31963381 PMID:34906470 PMID:35481838 More...
|
|
NCBI chrNW_004936758:1,250,831...1,286,016
Ensembl chrNW_004936758:1,250,769...1,285,376
|
|
|
G |
Mak |
male germ cell associated kinase |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 62 |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:21148103 PMID:21825139 PMID:21835304 PMID:24938718 PMID:25385675 PMID:25741868 PMID:28492532 PMID:29781741 PMID:31456290 PMID:31690835 More...
|
|
NCBI chrNW_004936534:2,170,853...2,239,647
Ensembl chrNW_004936534:2,170,794...2,224,065
|
|
|
G |
Rbp3 |
retinol binding protein 3 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 66 |
OMIM ClinVar |
PMID:9614228 PMID:19074801 PMID:21067480 PMID:23105016 PMID:23486466 PMID:24963161 PMID:25741868 PMID:25766589 PMID:27829784 PMID:28492532 More...
|
|
NCBI chrNW_004936554:7,329,155...7,340,434
Ensembl chrNW_004936554:7,329,028...7,338,074
|
|
|
G |
Nek2 |
NIMA related kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 67 |
OMIM ClinVar |
PMID:16199547 PMID:24033266 PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936557:1,683,027...1,695,410
Ensembl chrNW_004936557:1,682,984...1,695,414
|
|
|
G |
Slc7a14 |
solute carrier family 7 member 14 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 68 |
OMIM ClinVar |
PMID:24670872 PMID:25741868 PMID:28492532 PMID:32036094 |
|
NCBI chrNW_004936593:1,938,392...2,045,639
Ensembl chrNW_004936593:1,991,491...2,044,329
|
|
|
G |
Kiz |
kizuna centrosomal protein |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 69 |
OMIM ClinVar |
PMID:24680887 PMID:25741868 PMID:28492532 PMID:28837078 PMID:29057815 PMID:31370859 PMID:31556760 PMID:32052671 More...
|
|
NCBI chrNW_004936620:4,188,350...4,310,708
Ensembl chrNW_004936620:4,185,898...4,310,738
|
|
|
G |
Prph2 |
peripherin 2 |
|
ISO |
ClinVar Annotator: match by term: Leber congenital amaurosis 18 | ClinVar Annotator: match by term: Retinitis pigmentosa 7 | ClinVar Annotator: match by term: Retinitis pigmentosa 7, digenic |
OMIM ClinVar |
PMID:1684223 PMID:7493155 PMID:7825692 PMID:7880786 PMID:7904791 PMID:8015786 PMID:8019570 PMID:8020945 PMID:8111389 PMID:8202715 PMID:8302543 PMID:8485575 PMID:8485576 PMID:8675410 PMID:8740695 PMID:8747448 PMID:8943002 PMID:8994365 PMID:9010868 PMID:9279751 PMID:9331261 PMID:9338584 PMID:9443872 PMID:10193525 PMID:10532447 PMID:10800708 PMID:11139241 PMID:11297544 PMID:11427722 PMID:11853584 PMID:11934323 PMID:12925772 PMID:14510799 PMID:16019073 PMID:16799052 PMID:16885924 PMID:16916875 PMID:17148040 PMID:17504850 PMID:17653047 PMID:19038374 PMID:19262438 PMID:20213611 PMID:20640437 PMID:21071739 PMID:22863181 PMID:23105016 PMID:23847139 PMID:23950152 PMID:24265693 PMID:24416769 PMID:24463884 PMID:24608669 PMID:24963162 PMID:25082885 PMID:25412400 PMID:25447119 PMID:25675413 PMID:25741868 PMID:25803555 PMID:26061163 PMID:26103963 PMID:26321861 PMID:26355662 PMID:26667666 PMID:26720483 PMID:27365499 PMID:27813578 PMID:28041643 PMID:28045043 PMID:28076437 PMID:28492532 PMID:28559085 PMID:28761320 PMID:28838317 PMID:29186038 PMID:29276052 PMID:29343940 PMID:29453956 PMID:29555955 PMID:31054281 PMID:31213501 PMID:31456290 PMID:31574917 PMID:32531846 PMID:32660024 PMID:33546218 More...
|
|
NCBI chrNW_004936476:17,159,756...17,174,226
Ensembl chrNW_004936476:17,160,016...17,173,981
|
|
G |
Rom1 |
retinal outer segment membrane protein 1 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 7 | ClinVar Annotator: match by term: Retinitis pigmentosa 7, digenic |
OMIM ClinVar |
PMID:7904211 PMID:8202715 PMID:16799052 PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936581:642,322...644,286
Ensembl chrNW_004936581:641,753...644,637
|
|
|
G |
Prpf4 |
pre-mRNA splicing tri-snRNP complex factor PRPF4 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 70 |
OMIM ClinVar |
PMID:8090199 PMID:9536098 PMID:17576681 PMID:24419317 PMID:25741868 PMID:28492532 More...
|
|
NCBI chrNW_004936559:305,443...321,051
Ensembl chrNW_004936559:305,392...321,080
|
|
|
G |
Ift172 |
intraflagellar transport 172 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 71 |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:24140113 PMID:25168386 PMID:25741868 PMID:28492532 PMID:28559085 PMID:29068549 PMID:31475041 PMID:32783370 PMID:32939031 PMID:34567078 PMID:36413997 More...
|
|
NCBI chrNW_004936493:5,108,437...5,145,160
Ensembl chrNW_004936493:5,108,437...5,145,160
|
|
G |
Krtcap3 |
keratinocyte associated protein 3 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 71 |
ClinVar |
PMID:9536098 PMID:17576681 PMID:25168386 PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936493:5,145,237...5,146,904
Ensembl chrNW_004936493:5,142,970...5,146,778
|
|
|
G |
Znf408 |
zinc finger protein 408 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 72 |
OMIM ClinVar |
PMID:25741868 PMID:25882705 PMID:26167114 PMID:28492532 |
|
NCBI chrNW_004936562:2,394,368...2,400,924
Ensembl chrNW_004936562:2,393,751...2,400,650
|
|
|
G |
Hgsnat |
heparan-alpha-glucosaminide N-acetyltransferase |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 73 |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:16960811 PMID:17033958 PMID:17576681 PMID:19479962 PMID:19823584 PMID:20583299 PMID:24767253 PMID:25741868 PMID:25859010 PMID:27608171 PMID:28041643 PMID:28492532 PMID:28981474 PMID:29140481 PMID:31228227 PMID:31456290 PMID:32581362 PMID:32770643 PMID:33576794 PMID:33578874 PMID:33851411 PMID:34326763 PMID:34580245 PMID:34795310 PMID:34906470 More...
|
|
NCBI chrNW_004936570:257,636...297,797
Ensembl chrNW_004936570:258,820...297,762
|
|
|
G |
Bbs2 |
Bardet-Biedl syndrome 2 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 74 |
OMIM ClinVar |
PMID:11285252 PMID:11567139 PMID:12837689 PMID:19402160 PMID:20177705 PMID:20498079 PMID:21052717 PMID:21344540 PMID:21642631 PMID:22401627 PMID:22410627 PMID:23829372 PMID:24608809 PMID:25133751 PMID:25412400 PMID:25541840 PMID:25741868 PMID:25988237 PMID:25999675 PMID:26467025 PMID:26518167 PMID:27659767 PMID:28143435 PMID:28492532 PMID:28559085 PMID:31054281 PMID:31456290 PMID:31530639 PMID:31877679 PMID:31980526 PMID:32037395 PMID:34008892 PMID:34906470 PMID:35112343 PMID:35886001 More...
|
|
NCBI chrNW_004936475:8,785,914...8,810,490
Ensembl chrNW_004936475:8,785,154...8,810,541
|
|
G |
Bcl11b |
BCL11 transcription factor B |
|
ISO |
ClinVar Annotator: match by term: BCL11B-related condition |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936604:3,023,781...3,110,104
Ensembl chrNW_004936604:3,023,844...3,110,083
|
|
|
G |
Agbl5 |
AGBL carboxypeptidase 5 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 75 |
OMIM ClinVar |
PMID:25741868 PMID:26355662 PMID:26720455 PMID:28492532 |
|
NCBI chrNW_004936493:5,470,623...5,488,542
Ensembl chrNW_004936493:5,469,449...5,488,549
|
|
|
G |
Pomgnt1 |
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 76 |
OMIM ClinVar |
PMID:9536098 PMID:11709191 PMID:12588800 PMID:15236414 PMID:15466003 PMID:16199547 PMID:16427280 PMID:17030669 PMID:17559086 PMID:17576681 PMID:17878207 PMID:17881266 PMID:17906881 PMID:18195152 PMID:18330676 PMID:18691338 PMID:19067344 PMID:19299310 PMID:20816175 PMID:20981092 PMID:21228398 PMID:21361872 PMID:21447391 PMID:21727005 PMID:22323514 PMID:22554691 PMID:22995991 PMID:23326386 PMID:24033266 PMID:24123366 PMID:24282183 PMID:25333069 PMID:25390965 PMID:25525159 PMID:25741868 PMID:26013959 PMID:26467025 PMID:26908613 PMID:26938784 PMID:27391550 PMID:27884173 PMID:28424332 PMID:28492532 PMID:28832562 PMID:36819107 More...
|
|
NCBI chrNW_004936474:27,229,262...27,239,034
Ensembl chrNW_004936474:27,229,113...27,239,123
|
|
G |
Tspan1 |
tetraspanin 1 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 76 |
ClinVar |
PMID:9536098 PMID:11709191 PMID:12588800 PMID:15236414 PMID:15466003 PMID:16199547 PMID:16427280 PMID:17030669 PMID:17559086 PMID:17576681 PMID:17878207 PMID:17881266 PMID:17906881 PMID:18195152 PMID:18330676 PMID:18691338 PMID:19067344 PMID:19299310 PMID:20816175 PMID:20981092 PMID:21228398 PMID:21361872 PMID:21447391 PMID:21727005 PMID:22323514 PMID:22554691 PMID:22995991 PMID:23326386 PMID:24033266 PMID:24123366 PMID:24282183 PMID:25333069 PMID:25390965 PMID:25525159 PMID:25741868 PMID:26013959 PMID:26467025 PMID:26908613 PMID:26938784 PMID:27391550 PMID:27884173 PMID:28424332 PMID:28492532 PMID:28832562 PMID:36819107 More...
|
|
NCBI chrNW_004936474:27,221,691...27,227,226
Ensembl chrNW_004936474:27,221,586...27,227,015
|
|
|
G |
Reep6 |
receptor accessory protein 6 |
|
ISO |
ClinVar Annotator: match by term: REEP6-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 77 |
OMIM ClinVar |
PMID:25741868 PMID:27889058 PMID:28369466 PMID:28475715 PMID:28492532 PMID:29120066 PMID:36284460 PMID:36819107 More...
|
|
NCBI chrNW_004936588:800,492...804,769
Ensembl chrNW_004936588:799,414...809,852
|
|
|
G |
Arhgef18 |
Rho/Rac guanine nucleotide exchange factor 18 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 78 |
OMIM ClinVar |
PMID:16199547 PMID:25741868 PMID:28132693 PMID:28492532 PMID:32581362 |
|
NCBI chrNW_004936588:4,522,517...4,572,551
Ensembl chrNW_004936588:4,514,691...4,572,518
|
|
|
G |
Hk1 |
hexokinase 1 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 79 |
OMIM ClinVar |
PMID:25190649 PMID:25316723 PMID:25741868 PMID:26427411 PMID:28492532 PMID:28765615 PMID:30778173 More...
|
|
NCBI chrNW_004936521:9,067,062...9,139,112
Ensembl chrNW_004936521:9,066,999...9,159,793
|
|
|
G |
Ift140 |
intraflagellar transport 140 |
|
ISO |
ClinVar Annotator: match by term: Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene | ClinVar Annotator: match by term: Retinitis pigmentosa 80 |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22282595 PMID:22503633 PMID:23418020 PMID:24009529 PMID:24698627 PMID:25741868 PMID:26216056 PMID:26359340 PMID:26766544 PMID:26968735 PMID:28288023 PMID:28492532 PMID:28512305 PMID:28559085 PMID:28724397 PMID:29068549 PMID:29111861 PMID:29688594 PMID:30479745 PMID:30773290 PMID:31047384 PMID:31054281 PMID:31130284 PMID:31630094 PMID:31736247 PMID:31980526 PMID:32037395 PMID:32531858 PMID:32860008 PMID:34429528 PMID:34890546 PMID:34906470 More...
|
|
NCBI chrNW_004936694:2,344,448...2,419,396
Ensembl chrNW_004936694:2,344,283...2,423,520
|
|
|
G |
Ift43 |
intraflagellar transport 43 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 81 |
OMIM ClinVar |
PMID:16199547 PMID:21378380 PMID:25741868 PMID:28400947 PMID:28492532 PMID:28973684 More...
|
|
NCBI chrNW_004936488:5,011,792...5,090,980
Ensembl chrNW_004936488:5,011,642...5,091,007
|
|
|
G |
Arl3 |
ADP ribosylation factor like GTPase 3 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 83 |
OMIM ClinVar |
PMID:25741868 PMID:26964041 PMID:28492532 PMID:30932721 |
|
NCBI chrNW_004936600:3,190,212...3,229,831
Ensembl chrNW_004936600:3,190,208...3,232,755
|
|
|
G |
Dhx38 |
DEAH-box helicase 38 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 84 |
OMIM ClinVar |
PMID:24737827 PMID:25741868 PMID:28492532 PMID:30208423 |
|
NCBI chrNW_004936475:21,811,693...21,830,560
Ensembl chrNW_004936475:21,811,463...21,830,577
|
|
|
G |
Ahr |
aryl hydrocarbon receptor |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 85 |
OMIM ClinVar |
PMID:29726989 |
|
NCBI chrNW_004936546:3,737,908...3,783,492
Ensembl chrNW_004936546:3,737,851...3,783,588
|
|
|
G |
Kiaa1549 |
KIAA1549 ortholog |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 86 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:30120214 |
|
NCBI chrNW_004936592:3,132,166...3,215,835
Ensembl chrNW_004936592:3,132,703...3,275,199
|
|
|
G |
Rpe65 |
retinoid isomerohydrolase RPE65 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 87 with choroidal involvement |
OMIM ClinVar |
PMID:9326941 PMID:9501220 PMID:9536098 PMID:9843205 PMID:10090910 PMID:11095629 PMID:11462243 PMID:11786058 PMID:12960219 PMID:14962443 PMID:14971589 PMID:15024725 PMID:16123401 PMID:16150724 PMID:16199547 PMID:16205573 PMID:17576681 PMID:17724218 PMID:17964524 PMID:18539930 PMID:18632300 PMID:18722466 PMID:19431183 PMID:19854499 PMID:19920137 PMID:20079931 PMID:20604683 PMID:20683928 PMID:21151602 PMID:21211845 PMID:21654732 PMID:21911650 PMID:23591405 PMID:25097241 PMID:25257057 PMID:25741868 PMID:26024124 PMID:26364624 PMID:26626312 PMID:27307694 PMID:28041643 PMID:28041994 PMID:28224992 PMID:28492532 PMID:29033008 PMID:29659842 PMID:29947567 PMID:30025081 PMID:30268864 PMID:30628748 PMID:30996589 PMID:31379919 PMID:31456290 PMID:31736247 PMID:33472769 PMID:34492281 PMID:35129589 PMID:35836572 PMID:36909829 More...
|
|
NCBI chrNW_004936591:3,347,346...3,368,062
Ensembl chrNW_004936591:3,347,272...3,368,015
|
|
|
G |
Rp1l1 |
RP1 like 1 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 88 |
OMIM ClinVar |
PMID:20826268 PMID:22504327 PMID:23281133 PMID:23619761 PMID:23745001 PMID:25741868 PMID:25908487 PMID:26355662 PMID:26782618 PMID:27029556 PMID:27623337 PMID:28492532 PMID:30025130 PMID:31087526 PMID:31236346 PMID:31833436 PMID:32036094 PMID:32360662 PMID:32483926 PMID:33302505 PMID:33546218 More...
|
|
NCBI chrNW_004936675:2,527,406...2,564,464
|
|
|
G |
Kif3b |
kinesin family member 3B |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 89 |
OMIM ClinVar |
PMID:25741868 PMID:32386558 |
|
NCBI chrNW_004936485:19,180,751...19,198,321
Ensembl chrNW_004936485:19,180,571...19,198,429
|
|
|
G |
Rp9 |
RP9 pre-mRNA splicing factor |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 9 |
OMIM ClinVar |
PMID:1479605 PMID:8025041 PMID:8513323 PMID:12032732 PMID:15474994 PMID:15541726 PMID:16671097 PMID:16799052 PMID:17110909 PMID:23647439 PMID:25741868 PMID:28492532 More...
|
|
NCBI chrNW_004936478:8,687,584...8,722,345
|
|
|
G |
Idh3a |
isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 90 |
OMIM ClinVar |
PMID:25741868 PMID:28058510 PMID:28412069 PMID:28492532 PMID:30058936 PMID:31012789 PMID:31456290 PMID:34906470 More...
|
|
NCBI chrNW_004936471:36,823,003...36,842,576
Ensembl chrNW_004936471:36,822,971...36,842,610
|
|
|
G |
Hkdc1 |
hexokinase domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 92 |
OMIM ClinVar |
PMID:25741868 PMID:27229527 PMID:30085091 |
|
NCBI chrNW_004936521:9,175,916...9,223,546
Ensembl chrNW_004936521:9,175,447...9,223,583
|
|
|
G |
Cc2d2a |
coiled-coil and C2 domain containing 2A |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 93 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:30267408 |
|
NCBI chrNW_004936477:12,315,829...12,415,915
Ensembl chrNW_004936477:12,315,799...12,408,603
|
|
|
G |
Rax2 |
retina and anterior neural fold homeobox 2 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 95 |
OMIM ClinVar |
PMID:28492532 PMID:30377383 |
|
NCBI chrNW_004936588:2,133,398...2,135,329
Ensembl chrNW_004936588:2,134,211...2,135,358
|
|
|
G |
Sag |
S-antigen visual arrestin |
|
ISO |
|
OMIM |
|
|
NCBI chrNW_004936525:3,932,118...3,965,651
Ensembl chrNW_004936525:3,931,933...3,964,834
|
|
|
G |
LOC101965792 |
von Willebrand factor A domain-containing protein 8 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 97 |
OMIM ClinVar |
PMID:25741868 PMID:27229527 |
|
NCBI chrNW_004936747:1,798,200...2,018,722
Ensembl chrNW_004936747:1,797,136...2,064,072
|
|
|
G |
Trnt1 |
tRNA nucleotidyl transferase 1 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa and erythrocytic microcytosis |
OMIM ClinVar |
PMID:24033266 PMID:25193871 PMID:25652405 PMID:25741868 PMID:26494905 PMID:27389523 PMID:27531075 PMID:28492532 PMID:29358286 PMID:29610179 PMID:30758723 PMID:31338833 PMID:31664448 PMID:32371413 PMID:32592741 PMID:33332575 PMID:33646446 PMID:34510712 More...
|
|
NCBI chrNW_004936577:2,814,464...2,834,068
Ensembl chrNW_004936577:2,814,390...2,832,790
|
|
|
G |
Arl2bp |
ADP ribosylation factor like GTPase 2 binding protein |
|
ISO |
ClinVar Annotator: match by term: ARL2BP-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa with or without situs inversus |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:23849777 PMID:25741868 PMID:27790702 PMID:28041643 PMID:28492532 PMID:30210231 PMID:32581362 PMID:34906502 More...
|
|
NCBI chrNW_004936475:9,343,333...9,352,089
Ensembl chrNW_004936475:9,343,336...9,352,065
|
|
|
G |
Prph2 |
peripherin 2 |
|
ISO |
DNA:polymorphism:cds:p.C214S(human) |
RGD |
PMID:8244346 |
RGD:8553240 |
NCBI chrNW_004936476:17,159,756...17,174,226
Ensembl chrNW_004936476:17,160,016...17,173,981
|
|
|
G |
Crb1 |
crumbs cell polarity complex component 1 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome |
ClinVar |
PMID:10508521 PMID:11389483 PMID:12700176 PMID:20956273 PMID:24512366 PMID:25741868 PMID:26047050 PMID:28129017 PMID:28341475 PMID:28492532 PMID:29391521 PMID:30718709 PMID:33546218 PMID:34906470 More...
|
|
NCBI chrNW_004936567:6,347,661...6,559,731
Ensembl chrNW_004936567:6,366,489...6,559,766
|
|
G |
CUNH10orf105 |
chromosome unknown C10orf105 homolog |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936521:7,095,044...7,095,497
Ensembl chrNW_004936521:7,095,068...7,095,469
|
|
G |
Hars1 |
histidyl-tRNA synthetase 1 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome |
ClinVar |
|
|
NCBI chrNW_004936531:9,610,335...9,625,203
Ensembl chrNW_004936531:9,610,306...9,625,551
|
|
G |
LOC101969963 |
cadherin-23 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome |
ClinVar |
PMID:12075507 PMID:16963483 PMID:18429043 PMID:19683999 PMID:21174530 PMID:21228398 PMID:21569298 PMID:22135276 PMID:22995991 PMID:23794683 PMID:24033266 PMID:24444108 PMID:25474345 PMID:25741868 PMID:26467025 PMID:26969326 PMID:27018795 PMID:28492532 PMID:30029624 PMID:30033219 PMID:30459346 PMID:30718709 PMID:33576794 PMID:34906470 PMID:34948090 PMID:36460718 More...
|
|
NCBI chrNW_004936521:7,078,874...7,285,361
Ensembl chrNW_004936521:7,010,360...7,340,842
|
|
G |
Myo7a |
myosin VIIA |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome |
ClinVar |
PMID:24033266 PMID:28492532 |
|
NCBI chrNW_004936498:5,758,572...5,824,526
Ensembl chrNW_004936498:5,751,779...5,824,378
|
|
G |
Pcdh15 |
protocadherin related 15 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936910:233,800...602,145
Ensembl chrNW_004936910:141,917...602,089
|
|
G |
Psap |
prosaposin |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome |
ClinVar |
PMID:18429043 PMID:23794683 PMID:24033266 PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936521:6,975,844...7,009,460
Ensembl chrNW_004936521:6,975,770...7,009,136
|
|
G |
Ush1c |
USH1 protein network component harmonin |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome |
ClinVar |
|
|
NCBI chrNW_004936528:1,552,175...1,594,740
Ensembl chrNW_004936528:1,552,289...1,594,801
|
|
G |
Ush1g |
USH1 protein network component sans |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome |
ClinVar |
|
|
NCBI chrNW_004936594:258,115...262,739
Ensembl chrNW_004936594:259,030...262,778
|
|
G |
Ush2a |
usherin |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936628:2,123,917...2,859,958
Ensembl chrNW_004936628:2,123,957...2,858,872
|
|
G |
Whrn |
whirlin |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome |
ClinVar |
PMID:21569298 PMID:24033266 PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936487:3,668,465...3,748,234
Ensembl chrNW_004936487:3,669,104...3,748,238
|
|
|
G |
Tmem67 |
transmembrane protein 67 |
|
ISO |
ClinVar Annotator: match by term: RHYNS syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa syndrome |
OMIM ClinVar |
PMID:2929661 PMID:9375913 PMID:17377820 PMID:17397051 PMID:18327255 PMID:18414213 PMID:19058225 PMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:20232449 PMID:20607301 PMID:21068128 PMID:21633164 PMID:21866095 PMID:22700954 PMID:23351400 PMID:23559409 PMID:25412400 PMID:25741868 PMID:25920555 PMID:26035863 PMID:26092869 PMID:26729329 PMID:28125082 PMID:28492532 PMID:28497568 PMID:28680603 PMID:28973083 PMID:29127258 PMID:29146704 PMID:29891882 PMID:30476936 More...
|
|
NCBI chrNW_004936544:6,887,867...6,931,669
Ensembl chrNW_004936544:6,887,532...6,932,179
|
|
|
G |
Rrm2b |
ribonucleotide reductase regulatory TP53 inducible subunit M2B |
|
ISO |
ClinVar Annotator: match by term: Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction |
OMIM ClinVar |
PMID:8279480 PMID:17486094 PMID:21378381 PMID:24741716 PMID:25741868 PMID:28492532 PMID:31521625 PMID:32827185 More...
|
|
NCBI chrNW_004936470:41,354,387...41,401,308
Ensembl chrNW_004936470:41,354,287...41,401,317
|
|
|
G |
Nphp4 |
nephrocystin 4 |
|
ISO |
ClinVar Annotator: match by term: Senior-Loken syndrome 4 |
OMIM ClinVar |
PMID:1248184 PMID:6837691 PMID:9536098 PMID:11920287 PMID:12205563 PMID:12244321 PMID:15776426 PMID:16339905 PMID:17558407 PMID:17576681 PMID:17855640 PMID:21068128 PMID:21546380 PMID:21866095 PMID:22550138 PMID:22773737 PMID:23167750 PMID:23188109 PMID:23559409 PMID:24033266 PMID:25445212 PMID:25472526 PMID:25741868 PMID:26346198 PMID:26920127 PMID:27004616 PMID:27491411 PMID:27854218 PMID:28492532 PMID:28700940 PMID:29127258 PMID:34295353 More...
|
|
NCBI chrNW_004936623:802,152...904,198
|
|
|
G |
Exosc2 |
exosome component 2 |
|
ISO |
ClinVar Annotator: match by term: SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES | ClinVar Annotator: match by term: Short stature, hearing loss, retinitis pigmentosa, and distinctive facies |
OMIM ClinVar |
PMID:14647208 PMID:15060126 PMID:24447024 PMID:25741868 PMID:26843489 PMID:28492532 PMID:31628467 PMID:34162742 More...
|
|
NCBI chrNW_004936487:17,675,401...17,686,224
Ensembl chrNW_004936487:17,675,303...17,687,943
|
|
|
G |
Abca3 |
ATP binding cassette subfamily A member 3 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:1,735,206...1,778,100
Ensembl chrNW_004936694:1,736,207...1,778,116
|
|
G |
Adcy9 |
adenylate cyclase 9 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:336,269...449,490
Ensembl chrNW_004936694:336,269...452,943
|
|
G |
Anks3 |
ankyrin repeat and sterile alpha motif domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936530:4,698,234...4,723,131
Ensembl chrNW_004936530:4,695,401...4,722,924
|
|
G |
Arhgdig |
Rho GDP dissociation inhibitor gamma |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
|
NCBI chrNW_004936501:637,150...640,984
Ensembl chrNW_004936501:637,299...639,096
|
|
G |
Atp6v0c |
ATPase H+ transporting V0 subunit c |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:1,536,393...1,542,218
|
|
G |
Axin1 |
axin 1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
|
NCBI chrNW_004936501:599,963...633,837
Ensembl chrNW_004936501:599,919...633,873
|
|
G |
Baiap3 |
BAI1 associated protein 3 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
|
NCBI chrNW_004936694:2,542,521...2,556,540
Ensembl chrNW_004936694:2,543,195...2,556,540
|
|
G |
Bicdl2 |
BICD family like cargo adaptor 2 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:1,136,862...1,144,045
Ensembl chrNW_004936694:1,138,125...1,143,787
|
|
G |
Bricd5 |
BRICHOS domain containing 5 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:1,836,566...1,838,950
Ensembl chrNW_004936694:1,837,357...1,838,819
|
|
G |
C1qtnf8 |
C1q and TNF related 8 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
|
NCBI chrNW_004936501:53,208...54,391
|
|
G |
Cacna1h |
calcium voltage-gated channel subunit alpha1 H |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
|
NCBI chrNW_004936694:2,702,224...2,724,574
|
|
G |
Capn15 |
calpain 15 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
|
NCBI chrNW_004936501:444,100...458,461
Ensembl chrNW_004936501:444,085...456,654
|
|
G |
Caskin1 |
CASK interacting protein 1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:1,856,529...1,868,107
Ensembl chrNW_004936694:1,856,603...1,866,617
|
|
G |
Ccdc154 |
coiled-coil domain containing 154 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
|
NCBI chrNW_004936694:2,468,281...2,475,901
Ensembl chrNW_004936694:2,468,281...2,475,487
|
|
G |
Ccdc78 |
coiled-coil domain containing 78 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
|
NCBI chrNW_004936501:289,765...294,272
|
|
G |
Ccnf |
cyclin F |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:1,596,897...1,620,588
Ensembl chrNW_004936694:1,596,766...1,620,643
|
|
G |
Cdip1 |
cell death inducing p53 target 1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936530:4,559,062...4,578,896
Ensembl chrNW_004936530:4,556,566...4,562,503
|
|
G |
Chtf18 |
chromosome transmission fidelity factor 18 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
|
NCBI chrNW_004936501:232,387...240,866
|
|
G |
Ciao3 |
cytosolic iron-sulfur assembly component 3 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
|
NCBI chrNW_004936501:277,525...286,929
Ensembl chrNW_004936501:277,518...286,932
|
|
G |
Clcn7 |
chloride voltage-gated channel 7 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
|
NCBI chrNW_004936694:2,444,321...2,467,734
Ensembl chrNW_004936694:2,444,343...2,467,733
|
|
G |
Cldn6 |
claudin 6 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:1,153,189...1,154,012
Ensembl chrNW_004936694:1,153,347...1,154,012
|
|
G |
Cldn9 |
claudin 9 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:1,155,252...1,156,007
Ensembl chrNW_004936694:1,155,259...1,155,912
|
|
G |
Cluap1 |
clusterin associated protein 1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:779,399...810,534
Ensembl chrNW_004936694:780,197...810,457
|
|
G |
Coro7 |
coronin 7 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:96,107...152,075
Ensembl chrNW_004936694:96,110...152,133
|
|
G |
Cramp1 |
cramped chromatin regulator homolog 1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:2,284,315...2,341,033
Ensembl chrNW_004936694:2,287,663...2,341,030
|
|
G |
Crebbp |
CREB binding protein |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:552,447...663,237
Ensembl chrNW_004936694:553,753...663,617
|
|
G |
CUNH16orf90 |
chromosome unknown C16orf90 homolog |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:810,164...815,392
Ensembl chrNW_004936694:810,306...815,052
|
|
G |
CUNH16orf91 |
chromosome unknown C16orf91 homolog |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
|
NCBI chrNW_004936694:2,484,092...2,485,012
Ensembl chrNW_004936694:2,483,632...2,485,712
|
|
G |
CUNH16orf96 |
chromosome unknown C16orf96 homolog |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936530:4,599,136...4,637,123
|
|
G |
Decr2 |
2,4-dienoyl-CoA reductase 2 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
|
NCBI chrNW_004936501:542,365...553,541
Ensembl chrNW_004936501:547,063...552,914
|
|
G |
Dnaaf8 |
dynein axonemal assembly factor 8 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936530:4,725,294...4,738,515
Ensembl chrNW_004936530:4,725,279...4,738,554
|
|
G |
Dnaja3 |
DnaJ heat shock protein family (Hsp40) member A3 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:43,898...74,939
Ensembl chrNW_004936694:44,635...74,958
|
|
G |
Dnase1 |
deoxyribonuclease 1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:704,948...715,846
Ensembl chrNW_004936694:704,692...710,501
|
|
G |
Dnase1l2 |
deoxyribonuclease 1 like 2 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:1,808,184...1,810,735
Ensembl chrNW_004936694:1,808,463...1,810,019
|
|
G |
E4f1 |
E4F transcription factor 1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:1,811,131...1,829,193
Ensembl chrNW_004936694:1,809,882...1,829,157
|
|
G |
Eci1 |
enoyl-CoA delta isomerase 1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:1,794,673...1,807,306
Ensembl chrNW_004936694:1,794,670...1,807,299
|
|
G |
Elob |
elongin B |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:1,296,304...1,301,183
Ensembl chrNW_004936694:1,296,782...1,300,149
|
|
G |
Eme2 |
essential meiotic structure-specific endonuclease subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:2,217,352...2,220,556
Ensembl chrNW_004936694:2,217,811...2,220,432
|
|
G |
Fahd1 |
fumarylacetoacetate hydrolase domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:2,179,730...2,181,296
|
|
G |
Fam234a |
family with sequence similarity 234 member A |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
|
NCBI chrNW_004936501:648,859...679,012
Ensembl chrNW_004936501:649,017...656,930
|
|
G |
Fbxl16 |
F-box and leucine rich repeat protein 16 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
|
NCBI chrNW_004936501:308,682...320,774
Ensembl chrNW_004936501:308,531...319,055
|
|
G |
Flywch1 |
FLYWCH-type zinc finger 1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:1,212,517...1,236,576
Ensembl chrNW_004936694:1,215,774...1,236,606
|
|
G |
Flywch2 |
FLYWCH family member 2 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:1,241,550...1,251,555
Ensembl chrNW_004936694:1,243,090...1,251,591
|
|
G |
Gfer |
growth factor, augmenter of liver regeneration |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:2,051,362...2,053,812
Ensembl chrNW_004936694:2,051,325...2,053,818
|
|
G |
Glis2 |
GLIS family zinc finger 2 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:161,419...168,012
Ensembl chrNW_004936694:163,501...167,659
|
|
G |
Gng13 |
G protein subunit gamma 13 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
|
NCBI chrNW_004936501:230,439...232,426
Ensembl chrNW_004936501:232,009...232,413
|
|
G |
Gnptg |
N-acetylglucosamine-1-phosphate transferase subunit gamma |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
|
NCBI chrNW_004936694:2,529,634...2,540,474
Ensembl chrNW_004936694:2,529,640...2,540,328
|
|
G |
Hagh |
hydroxyacylglutathione hydrolase |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:2,181,475...2,200,469
Ensembl chrNW_004936694:2,181,501...2,194,007
|
|
G |
Haghl |
hydroxyacylglutathione hydrolase like |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
|
NCBI chrNW_004936501:286,958...290,062
Ensembl chrNW_004936501:287,013...290,062
|
|
G |
Hcfc1r1 |
host cell factor C1 regulator 1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:1,147,364...1,148,954
Ensembl chrNW_004936694:1,147,196...1,148,986
|
|
G |
Hmox2 |
heme oxygenase 2 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936530:4,556,617...4,558,250
Ensembl chrNW_004936530:4,556,706...4,557,663
|
|
G |
Hs3st6 |
heparan sulfate-glucosamine 3-sulfotransferase 6 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
Ensembl chrNW_004936694:2,100,040...2,105,658
|
|
G |
Ift140 |
intraflagellar transport 140 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome | ClinVar Annotator: match by term: Short-rib thoracic dysplasia without polydactyly |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19370764 PMID:20301784 PMID:22282595 PMID:22503633 PMID:23418020 PMID:24009529 PMID:24183451 PMID:24698627 PMID:25640679 PMID:25741868 PMID:26216056 PMID:26359340 PMID:26766544 PMID:26968735 PMID:27058611 PMID:27874174 PMID:28041643 PMID:28288023 PMID:28492532 PMID:28512305 PMID:28559085 PMID:28724397 PMID:28844315 PMID:28991257 PMID:29068549 PMID:29111861 PMID:29688594 PMID:29706353 PMID:29758562 PMID:29801666 PMID:30479745 PMID:30773290 PMID:30902645 PMID:31047384 PMID:31054281 PMID:31130284 PMID:31213501 PMID:31456290 PMID:31630094 PMID:31736247 PMID:31980526 PMID:32037395 PMID:32531858 PMID:32860008 PMID:32901917 PMID:33452237 PMID:33532864 PMID:33576794 PMID:33946315 PMID:34217267 PMID:34429528 PMID:34890546 PMID:34906470 PMID:36460718 More...
|
|
NCBI chrNW_004936694:2,344,448...2,419,396
Ensembl chrNW_004936694:2,344,283...2,423,520
|
|
G |
Igfals |
insulin like growth factor binding protein acid labile subunit |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:2,205,294...2,207,343
Ensembl chrNW_004936694:2,204,182...2,207,328
|
|
G |
Jmjd8 |
jumonji domain containing 8 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
|
NCBI chrNW_004936501:327,053...328,789
Ensembl chrNW_004936501:327,150...328,720
|
|
G |
Jpt2 |
Jupiter microtubule associated homolog 2 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:2,265,360...2,283,887
Ensembl chrNW_004936694:2,265,360...2,283,878
|
|
G |
Kctd5 |
potassium channel tetramerization domain containing 5 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:1,418,638...1,444,609
|
|
G |
Kremen2 |
kringle containing transmembrane protein 2 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:1,201,008...1,205,593
Ensembl chrNW_004936694:1,201,812...1,205,246
|
|
G |
Lmf1 |
lipase maturation factor 1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
|
NCBI chrNW_004936501:138,470...200,120
Ensembl chrNW_004936501:140,661...204,127
|
|
G |
LOC101977328 |
olfactory receptor 15 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:901,542...905,354
Ensembl chrNW_004936694:902,347...903,285
|
|
G |
Luc7l |
LUC7 like |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
|
NCBI chrNW_004936501:687,352...722,720
Ensembl chrNW_004936501:687,036...722,919
|
|
G |
Mapk8ip3 |
mitogen-activated protein kinase 8 interacting protein 3 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:2,223,020...2,263,388
Ensembl chrNW_004936694:2,222,996...2,263,390
|
|
G |
Mcrip2 |
MAPK regulated corepressor interacting protein 2 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
|
NCBI chrNW_004936501:360,671...365,512
Ensembl chrNW_004936501:360,688...365,497
|
|
G |
Mefv |
MEFV innate immunity regulator, pyrin |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:970,706...980,605
|
|
G |
Meiob |
meiosis specific with OB-fold |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:2,099,967...2,176,279
Ensembl chrNW_004936694:2,142,800...2,176,239
|
|
G |
Metrn |
meteorin, glial cell differentiation regulator |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
|
NCBI chrNW_004936501:295,970...301,344
Ensembl chrNW_004936501:294,359...296,020 Ensembl chrNW_004936501:294,359...296,020
|
|
G |
Mettl26 |
methyltransferase like 26 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
|
NCBI chrNW_004936501:368,532...371,075
Ensembl chrNW_004936501:368,775...371,075
|
|
G |
Mgrn1 |
mahogunin ring finger 1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936530:4,647,550...4,693,143
Ensembl chrNW_004936530:4,652,464...4,693,999
|
|
G |
Mlst8 |
MTOR associated protein, LST8 homolog |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:1,839,135...1,849,307
Ensembl chrNW_004936694:1,834,701...1,842,719
|
|
G |
Mmp25 |
matrix metallopeptidase 25 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:1,118,432...1,128,315
Ensembl chrNW_004936694:1,118,670...1,128,261
|
|
G |
Mrpl28 |
mitochondrial ribosomal protein L28 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
|
NCBI chrNW_004936501:580,863...583,540
Ensembl chrNW_004936501:580,932...583,271
|
|
G |
Mrps34 |
mitochondrial ribosomal protein S34 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:2,220,492...2,221,716
Ensembl chrNW_004936694:2,220,475...2,221,714
|
|
G |
Msrb1 |
methionine sulfoxide reductase B1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:2,086,573...2,090,752
Ensembl chrNW_004936694:2,086,822...2,089,932
|
|
G |
Naa60 |
N-alpha-acetyltransferase 60, NatF catalytic subunit |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:818,386...838,258
Ensembl chrNW_004936694:818,393...838,260
|
|
G |
Ndufb10 |
NADH:ubiquinone oxidoreductase subunit B10 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:2,073,481...2,075,989
Ensembl chrNW_004936694:2,073,354...2,076,043
|
|
G |
Nherf2 |
NHERF family PDZ scaffold protein 2 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:2,000,977...2,006,102
Ensembl chrNW_004936694:2,000,854...2,006,567
|
|
G |
Nhlrc4 |
NHL repeat containing 4 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
|
NCBI chrNW_004936501:430,023...433,632
|
|
G |
Nlrc3 |
NLR family CARD domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:757,121...773,924
|
|
G |
Nme3 |
NME/NM23 nucleoside diphosphate kinase 3 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:2,222,055...2,222,977
Ensembl chrNW_004936694:2,221,915...2,222,814
|
|
G |
Nme4 |
NME/NM23 nucleoside diphosphate kinase 4 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
|
NCBI chrNW_004936501:553,931...557,744
|
|
G |
Nmral1 |
NmrA like redox sensor 1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:33,738...40,716
Ensembl chrNW_004936694:35,903...44,926
|
|
G |
Noxo1 |
NADPH oxidase organizer 1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:2,054,429...2,060,098
Ensembl chrNW_004936694:2,057,836...2,059,891
|
|
G |
Npw |
neuropeptide W |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:2,017,040...2,019,583
|
|
G |
Nthl1 |
nth like DNA glycosylase 1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:1,993,443...2,000,323
Ensembl chrNW_004936694:1,993,443...2,000,333
|
|
G |
Ntn3 |
netrin 3 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:1,581,322...1,585,893
Ensembl chrNW_004936694:1,582,643...1,585,455
|
|
G |
Nubp2 |
NUBP iron-sulfur cluster assembly factor 2, cytosolic |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:2,208,102...2,211,910
Ensembl chrNW_004936694:2,208,518...2,211,653
|
|
G |
Pam16 |
presequence translocase associated motor 16 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:153,958...161,635
Ensembl chrNW_004936694:153,959...161,635
|
|
G |
Paqr4 |
progestin and adipoQ receptor family member 4 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:1,196,650...1,200,067
Ensembl chrNW_004936694:1,196,527...1,200,091
|
|
G |
Pdia2 |
protein disulfide isomerase family A member 2 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
|
NCBI chrNW_004936501:634,034...637,177
Ensembl chrNW_004936501:634,118...637,000
|
|
G |
Pdpk1 |
3-phosphoinositide dependent protein kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:1,444,819...1,487,628
Ensembl chrNW_004936694:1,444,880...1,488,265 Ensembl chrNW_004936694:1,444,880...1,488,265
|
|
G |
Pgap6 |
post-GPI attachment to proteins 6 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
|
NCBI chrNW_004936501:564,963...580,617
|
|
G |
Pgp |
phosphoglycolate phosphatase |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:1,834,016...1,836,359
|
|
G |
Pigq |
phosphatidylinositol glycan anchor biosynthesis class Q |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
|
NCBI chrNW_004936501:415,232...429,902
Ensembl chrNW_004936501:414,905...429,600
|
|
G |
Pkd1 |
polycystin 1, transient receptor potential channel interacting |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:1,923,383...1,958,160
Ensembl chrNW_004936694:1,930,621...1,957,179
|
|
G |
Pkmyt1 |
protein kinase, membrane associated tyrosine/threonine 1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:1,191,534...1,196,532
Ensembl chrNW_004936694:1,188,442...1,199,079
|
|
G |
Prr35 |
proline rich 35 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
|
NCBI chrNW_004936501:433,726...439,882
Ensembl chrNW_004936501:433,931...435,902
|
|
G |
Prss22 |
serine protease 22 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:1,381,624...1,385,973
Ensembl chrNW_004936694:1,381,623...1,386,042
|
|
G |
Prss27 |
serine protease 27 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:1,408,379...1,415,137
Ensembl chrNW_004936694:1,407,861...1,415,228
|
|
G |
Prss33 |
serine protease 33 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:1,305,167...1,307,695
Ensembl chrNW_004936694:1,305,757...1,307,621
|
|
G |
Prss41 |
serine protease 41 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:1,313,785...1,314,690
|
|
G |
Ptx4 |
pentraxin 4 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 PMID:29688594 More...
|
|
NCBI chrNW_004936694:2,435,291...2,439,837
Ensembl chrNW_004936694:2,436,755...2,441,802
|
|
G |
Rab11fip3 |
RAB11 family interacting protein 3 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
|
NCBI chrNW_004936501:470,307...535,958
Ensembl chrNW_004936501:467,171...535,964
|
|
G |
Rab26 |
RAB26, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:1,896,360...1,902,272
Ensembl chrNW_004936694:1,893,076...1,902,605
|
|
G |
Rab40c |
RAB40C, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
|
NCBI chrNW_004936501:375,663...409,243
Ensembl chrNW_004936501:373,859...409,267
|
|
G |
Rgs11 |
regulator of G protein signaling 11 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
|
NCBI chrNW_004936501:641,339...647,833
Ensembl chrNW_004936501:641,391...651,098
|
|
G |
Rhbdl1 |
rhomboid like 1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
|
NCBI chrNW_004936501:332,838...335,057
Ensembl chrNW_004936501:332,512...335,276
|
|
G |
Rhot2 |
ras homolog family member T2 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
|
NCBI chrNW_004936501:336,506...341,671
|
|
G |
Rnf151 |
ring finger protein 151 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:2,066,869...2,069,537
|
|
G |
Rnps1 |
RNA binding protein with serine rich domain 1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:1,784,396...1,794,269
Ensembl chrNW_004936694:1,784,480...1,793,481
|
|
G |
Rogdi |
rogdi atypical leucine zipper |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936530:4,756,069...4,761,484
Ensembl chrNW_004936530:4,753,751...4,761,695
|
|
G |
Rpl3l |
ribosomal protein L3 like |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:2,078,903...2,086,333
Ensembl chrNW_004936694:2,078,903...2,086,354
|
|
G |
Rps2 |
ribosomal protein S2 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:2,071,295...2,073,409
|
|
G |
Rpusd1 |
RNA pseudouridine synthase domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
|
NCBI chrNW_004936501:241,190...244,180
Ensembl chrNW_004936501:241,232...244,366
|
|
G |
Septin12 |
septin 12 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936530:4,744,772...4,750,495
Ensembl chrNW_004936530:4,744,818...4,750,521
|
|
G |
Slx4 |
SLX4 structure-specific endonuclease subunit |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:720,585...744,477
Ensembl chrNW_004936694:722,481...744,600
|
|
G |
Smim22 |
small integral membrane protein 22 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936530:4,754,946...4,755,830
Ensembl chrNW_004936530:4,755,222...4,755,817
|
|
G |
Sox8 |
SRY-box transcription factor 8 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
|
NCBI chrNW_004936501:128,386...132,648
Ensembl chrNW_004936501:127,703...132,704
|
|
G |
Spsb3 |
splA/ryanodine receptor domain and SOCS box containing 3 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:2,212,022...2,217,409
Ensembl chrNW_004936694:2,212,299...2,217,140
|
|
G |
Srl |
sarcalumenin |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:224,023...275,069
|
|
G |
Srrm2 |
serine/arginine repetitive matrix 2 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:1,280,104...1,296,301
Ensembl chrNW_004936694:1,280,155...1,295,779
|
|
G |
Sstr5 |
somatostatin receptor 5 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
|
NCBI chrNW_004936501:60,812...63,149
Ensembl chrNW_004936501:62,031...63,122
|
|
G |
Stub1 |
STIP1 homology and U-box containing protein 1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
|
NCBI chrNW_004936501:328,767...330,963
Ensembl chrNW_004936501:326,451...330,983
|
|
G |
Syngr3 |
synaptogyrin 3 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:2,043,646...2,047,897
Ensembl chrNW_004936694:2,043,657...2,047,883
|
|
G |
Tbc1d24 |
TBC1 domain family member 24 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:1,556,717...1,582,019
Ensembl chrNW_004936694:1,556,244...1,569,201
|
|
G |
Tbl3 |
transducin beta like 3 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:2,060,218...2,066,525
Ensembl chrNW_004936694:2,060,220...2,066,575
|
|
G |
Tedc2 |
tubulin epsilon and delta complex 2 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:1,591,392...1,595,693
Ensembl chrNW_004936694:1,590,919...1,595,719
|
|
G |
Telo2 |
telomere maintenance 2 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 PMID:29688594 More...
|
|
NCBI chrNW_004936694:2,418,223...2,433,630
Ensembl chrNW_004936694:2,419,855...2,433,767
|
|
G |
Tfap4 |
transcription factor AP-4 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:210,863...222,531
Ensembl chrNW_004936694:210,672...222,619
|
|
G |
Thoc6 |
THO complex subunit 6 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:1,144,122...1,147,345
Ensembl chrNW_004936694:1,143,345...1,147,345
|
|
G |
Tigd7 |
tigger transposable element derived 7 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:938,233...943,347
Ensembl chrNW_004936694:941,533...943,182
|
|
G |
Tmem204 |
transmembrane protein 204 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:25741868 PMID:26216056 PMID:28492532 More...
|
|
NCBI chrNW_004936694:2,382,672...2,402,798
Ensembl chrNW_004936694:2,382,662...2,402,981
|
|
G |
Tnfrsf12a |
TNF receptor superfamily member 12A |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:1,149,169...1,151,098
Ensembl chrNW_004936694:1,149,076...1,151,151
|
|
G |
Traf7 |
TNF receptor associated factor 7 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:1,868,309...1,886,772
|
|
G |
Trap1 |
TNF receptor associated protein 1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:667,687...704,994
Ensembl chrNW_004936694:667,691...704,994
|
|
G |
Tsc2 |
TSC complex subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:1,958,152...1,993,373
Ensembl chrNW_004936694:1,958,154...1,993,363
|
|
G |
Tsr3 |
TSR3 ribosome maturation factor |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
|
NCBI chrNW_004936694:2,540,446...2,542,666
Ensembl chrNW_004936694:2,540,444...2,542,666
|
|
G |
Ubald1 |
UBA like domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936530:4,641,859...4,647,264
Ensembl chrNW_004936530:4,638,114...4,647,921
|
|
G |
Ube2i |
ubiquitin conjugating enzyme E2 I |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
|
NCBI chrNW_004936694:2,561,701...2,571,284
Ensembl chrNW_004936694:2,561,681...2,576,647
|
|
G |
Unkl |
unk like zinc finger |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
|
NCBI chrNW_004936694:2,492,102...2,529,662
Ensembl chrNW_004936694:2,492,102...2,527,305
|
|
G |
Vasn |
vasorin |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:128,398...138,954
Ensembl chrNW_004936694:128,273...138,954
|
|
G |
Wdr19 |
WD repeat domain 19 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:25741868 PMID:33002628 PMID:33532864 |
|
NCBI chrNW_004936482:6,863,592...6,937,810
Ensembl chrNW_004936482:6,863,571...6,937,979
|
|
G |
Wdr24 |
WD repeat domain 24 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
|
NCBI chrNW_004936501:321,877...326,984
Ensembl chrNW_004936501:321,924...327,253
|
|
G |
Wdr90 |
WD repeat domain 90 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
|
NCBI chrNW_004936501:342,376...359,853
Ensembl chrNW_004936501:342,664...359,776
|
|
G |
Wfikkn1 |
WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
|
NCBI chrNW_004936501:371,328...375,271
Ensembl chrNW_004936501:371,384...373,859
|
|
G |
Zg16b |
zymogen granule protein 16B |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
|
|
G |
Znf174 |
zinc finger protein 174 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:870,271...881,273
Ensembl chrNW_004936694:870,123...881,299
|
|
G |
Znf200 |
zinc finger protein 200 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:988,300...998,829
Ensembl chrNW_004936694:989,709...1,003,183
|
|
G |
Znf205 |
zinc finger protein 205 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:1,072,633...1,084,923
Ensembl chrNW_004936694:1,072,653...1,081,755
|
|
G |
Znf213 |
zinc finger protein 213 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:1,054,433...1,060,659
Ensembl chrNW_004936694:1,055,346...1,058,878
|
|
G |
Znf263 |
zinc finger protein 263 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:948,042...954,920
Ensembl chrNW_004936694:948,033...954,957
|
|
G |
Znf597 |
zinc finger protein 597 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:849,369...854,290
Ensembl chrNW_004936694:849,681...856,887
|
|
G |
Znf598 |
zinc finger protein 598, E3 ubiquitin ligase |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:2,019,714...2,035,885
Ensembl chrNW_004936694:2,023,806...2,036,864
|
|
G |
Znf75a |
zinc finger protein 75a |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:907,382...936,997
|
|
G |
Zscan10 |
zinc finger and SCAN domain containing 10 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:1,100,190...1,107,114
Ensembl chrNW_004936694:1,100,190...1,107,010
|
|
|
G |
Syn3 |
synapsin III |
|
ISO |
ClinVar Annotator: match by term: Sorsby fundus dystrophy |
ClinVar |
PMID:7148944 PMID:7894485 PMID:8634721 PMID:8639088 PMID:8919688 PMID:8981947 PMID:10854443 PMID:25741868 PMID:27601084 PMID:28492532 PMID:31415707 More...
|
|
NCBI chrNW_004936492:6,836,441...7,253,867
Ensembl chrNW_004936492:6,876,684...7,253,375
|
|
G |
Timp3 |
TIMP metallopeptidase inhibitor 3 |
|
ISO |
ClinVar Annotator: match by term: Sorsby fundus dystrophy |
OMIM ClinVar |
PMID:7148944 PMID:7894485 PMID:8634721 PMID:8639088 PMID:8919688 PMID:8981947 PMID:10854443 PMID:25741868 PMID:27601084 PMID:28492532 PMID:31415707 More...
|
|
NCBI chrNW_004936492:6,996,627...7,046,137
Ensembl chrNW_004936492:6,996,613...7,046,190
|
|
|
G |
Pcyt1a |
phosphate cytidylyltransferase 1A, choline |
|
ISO |
ClinVar Annotator: match by term: Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome |
OMIM ClinVar |
PMID:15326626 PMID:21412974 PMID:24387990 PMID:24387991 PMID:25741868 PMID:28272537 PMID:28492532 PMID:30559292 More...
|
|
NCBI chrNW_004936784:884,751...938,901
Ensembl chrNW_004936784:884,751...938,282
|
|
|
G |
Abca4 |
ATP binding cassette subfamily A member 4 |
susceptibility treatment |
ISO |
ClinVar Annotator: match by term: Fundus flavimaculatus | ClinVar Annotator: match by term: Generalized choriocapillaris dystrophy | ClinVar Annotator: match by term: MACULAR DYSTROPHY WITH FLECKS, TYPE 1 | ClinVar Annotator: match by term: Stargardt Disease, Recessive | ClinVar Annotator: match by term: Stargardt disease 1 DNA:mutations:multiple: DNA:mutation:exon:c.2041C>T(human) |
OMIM ClinVar RGD |
PMID:8533764 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:10509673 PMID:10612508 PMID:10634594 PMID:10634626 PMID:10711710 PMID:10746567 PMID:10874631 PMID:10880298 PMID:10958761 PMID:10958763 PMID:11017087 PMID:11123914 PMID:11328725 PMID:11346402 PMID:11379881 PMID:11385708 PMID:11444963 PMID:11527935 PMID:11673412 PMID:11687513 PMID:11702214 PMID:11726554 PMID:11818392 PMID:11846518 PMID:11857735 PMID:11919200 PMID:11973624 PMID:12037008 PMID:12192456 PMID:12202497 PMID:12515255 PMID:12592048 PMID:12796258 PMID:12962493 PMID:14517951 PMID:14709597 PMID:15108289 PMID:15161829 PMID:15192030 PMID:15494742 PMID:15516930 PMID:15579991 PMID:15614537 PMID:16103129 PMID:16123440 PMID:16199547 PMID:16303926 PMID:16400609 PMID:16533065 PMID:16546111 PMID:16682602 PMID:16703556 PMID:16917483 PMID:17277736 PMID:17296903 PMID:17325136 PMID:17325179 PMID:17562343 PMID:17576681 PMID:17724221 PMID:17893657 PMID:17982420 PMID:18024811 PMID:18285826 PMID:18334942 PMID:18414213 PMID:18463687 PMID:18652558 PMID:18854780 PMID:18977788 PMID:19028736 PMID:19074458 PMID:19217903 PMID:19243736 PMID:19265867 PMID:19339744 PMID:19365591 PMID:20029649 PMID:20108432 PMID:20128570 PMID:20335603 PMID:20404325 PMID:20647261 PMID:20696155 PMID:20801516 PMID:20981092 PMID:21293320 PMID:21330655 PMID:21786275 PMID:21873672 PMID:21911583 PMID:22025579 PMID:22076985 PMID:22229821 PMID:22247458 PMID:22264887 PMID:22312191 PMID:22328824 PMID:22334370 PMID:22395892 PMID:22427542 PMID:22449572 PMID:22589445 PMID:22661472 PMID:22661473 PMID:22735453 PMID:22863181 PMID:22968130 PMID:22995991 PMID:23096905 PMID:23105016 PMID:23134348 PMID:23143460 PMID:23144455 PMID:23419329 PMID:23424971 PMID:23443024 PMID:23499370 PMID:23591405 PMID:23695285 PMID:23755871 PMID:23769331 PMID:23776498 PMID:23918662 PMID:23940504 PMID:23953153 PMID:23982839 PMID:24011517 PMID:24020726 PMID:24033266 PMID:24082139 PMID:24097981 PMID:24154662 PMID:24265693 PMID:24273789 PMID:24342785 PMID:24409374 PMID:24444108 PMID:24453473 PMID:24509150 PMID:24550365 PMID:24585425 PMID:24632595 PMID:24713488 PMID:24743636 PMID:24763286 PMID:24938718 PMID:25066811 PMID:25082829 PMID:25082885 PMID:25087612 PMID:25097154 PMID:25097241 PMID:25283059 PMID:25301883 PMID:25312043 PMID:25333069 PMID:25346251 PMID:25356976 PMID:25412400 PMID:25444351 PMID:25472526 PMID:25474345 PMID:25525159 PMID:25544989 PMID:25640233 PMID:25698705 PMID:25712131 PMID:25741868 PMID:25884411 PMID:25910913 PMID:25921964 PMID:25922843 PMID:25999674 PMID:26024099 PMID:26047050 PMID:26092729 PMID:26103963 PMID:26161775 PMID:26229699 PMID:26247787 PMID:26261413 PMID:26355662 PMID:26377081 PMID:26527198 PMID:26551331 PMID:26593885 PMID:26720470 PMID:26743751 PMID:26764160 PMID:26780318 PMID:26872967 PMID:26976702 PMID:26992781 PMID:27014590 PMID:27030965 PMID:27032803 PMID:27353947 PMID:27367509 PMID:27535533 PMID:27628848 PMID:27699414 PMID:27739528 PMID:27775217 PMID:27820952 PMID:27939946 PMID:28041643 PMID:28044389 PMID:28118664 PMID:28130426 PMID:28181551 PMID:28224992 PMID:28248825 PMID:28327576 PMID:28341476 PMID:28355279 PMID:28365912 PMID:28430335 PMID:28446513 PMID:28492532 PMID:28512305 PMID:28559085 PMID:28771251 PMID:28947085 PMID:29068140 PMID:29099798 PMID:29114839 PMID:29145636 PMID:29162642 PMID:29178665 PMID:29186038 PMID:29310964 PMID:29343940 PMID:29422768 PMID:29461686 PMID:29526278 PMID:29555955 PMID:29625472 PMID:29641573 PMID:29847635 PMID:29847639 PMID:29847651 PMID:29848554 PMID:29854428 PMID:29925512 PMID:29971439 PMID:29975949 PMID:30029497 PMID:30054919 PMID:30060493 PMID:30093795 PMID:30190494 PMID:30337596 PMID:30480703 PMID:30576320 PMID:30643219 PMID:30670881 PMID:30718709 PMID:30798147 PMID:30820146 PMID:30834176 PMID:30903310 PMID:30945053 PMID:31129250 PMID:31144483 PMID:31212395 PMID:31213501 PMID:31318848 PMID:31429209 PMID:31456290 PMID:31522899 PMID:31543898 PMID:31576780 PMID:31614660 PMID:31618761 PMID:31630094 PMID:31736247 PMID:31766579 PMID:31814693 PMID:31814694 PMID:31884623 PMID:31934596 PMID:31964843 PMID:32036094 PMID:32037395 PMID:32141364 PMID:32235935 PMID:32278709 PMID:32307445 PMID:32531858 PMID:32581362 PMID:32619608 PMID:32627976 PMID:32717343 PMID:32783370 PMID:32821503 PMID:32845050 PMID:32845068 PMID:33090715 PMID:33223529 PMID:33261146 PMID:33301772 PMID:33375396 PMID:33546218 PMID:33691693 PMID:33732702 PMID:33841504 PMID:34008892 PMID:34214897 PMID:34321860 PMID:34874912 PMID:34906470 PMID:35119454 PMID:35260635 PMID:35608843 PMID:35886001 PMID:35903041 PMID:36209838 PMID:36284670 PMID:36909829 PMID:38054408 PMID:92952680 More...
|
RGD:7815045 RGD:7815046 RGD:7829716 |
NCBI chrNW_004936537:4,969,456...5,326,682
Ensembl chrNW_004936537:5,202,093...5,323,527
|
|
G |
Abcb4 |
ATP binding cassette subfamily B member 4 |
|
ISO |
ClinVar Annotator: match by term: Stargardt disease 1 |
ClinVar |
PMID:12891548 PMID:18482588 PMID:19467940 PMID:20537830 PMID:23022423 PMID:23533021 PMID:25741868 PMID:26126923 PMID:26153658 PMID:26324191 PMID:26474921 PMID:26900700 PMID:28492532 PMID:28587926 PMID:28776642 PMID:31000363 PMID:32581362 PMID:32626542 PMID:32917322 PMID:33742171 PMID:34016879 PMID:34376370 PMID:35626323 PMID:35741809 PMID:35894240 PMID:35922258 More...
|
|
NCBI chrNW_004936763:1,339,849...1,415,528
Ensembl chrNW_004936763:1,339,824...1,415,586
|
|
G |
Best1 |
bestrophin 1 |
|
ISO |
ClinVar Annotator: match by term: Fundus flavimaculatus |
ClinVar |
PMID:10854112 PMID:16754206 PMID:18179881 PMID:21192766 PMID:21273940 PMID:21330666 PMID:21809908 PMID:21825197 PMID:23290749 PMID:25741868 PMID:26200502 PMID:26333019 PMID:27519691 PMID:28492532 PMID:30718709 PMID:33546218 More...
|
|
NCBI chrNW_004936581:1,120,681...1,132,226
Ensembl chrNW_004936581:1,120,474...1,132,230
|
|
G |
Cngb3 |
cyclic nucleotide gated channel subunit beta 3 |
|
ISO |
ClinVar Annotator: match by term: MACULAR DYSTROPHY WITH FLECKS, TYPE 1 | ClinVar Annotator: match by term: Stargardt Disease, Recessive | ClinVar Annotator: match by term: Stargardt disease 1 |
ClinVar |
PMID:1347967 PMID:10888875 PMID:10958649 PMID:12815043 PMID:14757870 PMID:15161866 PMID:15223812 PMID:15657609 PMID:15712225 PMID:16379026 PMID:17265047 PMID:19592100 PMID:22975760 PMID:22995991 PMID:23776498 PMID:23805033 PMID:24033266 PMID:24504161 PMID:25474149 PMID:25741868 PMID:25770143 PMID:26106334 PMID:28041643 PMID:28418496 PMID:28492532 PMID:28795510 PMID:30418171 PMID:30718709 PMID:31544997 PMID:32860008 PMID:32869108 PMID:32913385 PMID:33546218 PMID:35672425 PMID:36909829 More...
|
|
NCBI chrNW_004936544:1,166,896...1,305,339
Ensembl chrNW_004936544:1,166,508...1,305,457
|
|
G |
Kcnv2 |
potassium voltage-gated channel modifier subfamily V member 2 |
|
ISO |
ClinVar Annotator: match by term: Fundus flavimaculatus |
ClinVar |
PMID:8333273 PMID:18235024 PMID:30718709 |
|
NCBI chrNW_004936503:2,320,570...2,332,833
Ensembl chrNW_004936503:2,319,617...2,332,971
|
|
G |
Lama4 |
laminin subunit alpha 4 |
|
ISO |
ClinVar Annotator: match by term: Stargardt disease 1 |
ClinVar |
PMID:25326637 PMID:28492532 |
|
NCBI chrNW_004936679:803,131...938,022
Ensembl chrNW_004936679:802,885...937,721
|
|
G |
LOC101961358 |
mitochondrial chaperone BCS1 |
|
ISO |
ClinVar Annotator: match by term: MACULAR DYSTROPHY WITH FLECKS, TYPE 1 |
ClinVar |
PMID:12215968 PMID:12910490 PMID:17314340 PMID:19162478 PMID:19389488 PMID:19508421 PMID:20518024 PMID:22277166 PMID:25326637 PMID:25741868 PMID:25895478 PMID:28492532 More...
|
|
NCBI chrNW_004936569:1,104,493...1,108,708
Ensembl chrNW_004936569:1,104,549...1,108,708
|
|
G |
Mfsd8 |
major facilitator superfamily domain containing 8 |
|
ISO |
ClinVar Annotator: match by term: Stargardt disease 1 |
ClinVar |
PMID:25333361 PMID:25741868 PMID:28041643 PMID:28492532 PMID:28586915 PMID:31006324 PMID:32037395 PMID:32581362 More...
|
|
NCBI chrNW_004936642:2,745,889...2,833,286
Ensembl chrNW_004936642:2,801,908...2,832,830
|
|
G |
Opa1 |
OPA1 mitochondrial dynamin like GTPase |
|
ISO |
ClinVar Annotator: match by term: Fundus flavimaculatus |
ClinVar |
PMID:11440988 PMID:11440989 PMID:20157015 PMID:20952381 PMID:23384603 PMID:25012220 PMID:25741868 PMID:26467025 PMID:28005958 PMID:28492532 PMID:33084218 PMID:34242285 More...
|
|
NCBI chrNW_004936711:1,027,531...1,113,796
Ensembl chrNW_004936711:1,032,935...1,106,847
|
|
G |
Prom1 |
prominin 1 |
|
ISO |
ClinVar Annotator: match by term: Fundus flavimaculatus |
ClinVar |
PMID:10205271 PMID:16199547 PMID:17605048 PMID:19718270 PMID:24154662 PMID:24516651 PMID:25474345 PMID:25741868 PMID:25999674 PMID:26103963 PMID:26261540 PMID:27874104 PMID:28041643 PMID:28492532 PMID:30588538 PMID:31129250 PMID:36909829 More...
|
|
NCBI chrNW_004936477:11,878,261...12,017,228
Ensembl chrNW_004936477:11,878,012...12,018,177
|
|
G |
Prph2 |
peripherin 2 |
|
ISO |
ClinVar Annotator: match by term: Fundus flavimaculatus | ClinVar Annotator: match by term: Stargardt disease 1 ClinVar Annotator: match by term: Fundus flavimaculatus | ClinVar Annotator: match by term: Stargardt Disease, Recessive | ClinVar Annotator: match by term: Stargardt disease 1 |
ClinVar |
PMID:279751 PMID:4142662 PMID:7493155 PMID:7519821 PMID:7825692 PMID:7862413 PMID:7880786 PMID:8015786 PMID:8111389 PMID:8302543 PMID:8485575 PMID:8485576 PMID:8644804 PMID:8675410 PMID:8747448 PMID:8994365 PMID:9010868 PMID:9279751 PMID:9331261 PMID:9443872 PMID:9536098 PMID:10193525 PMID:10532447 PMID:10627133 PMID:11139241 PMID:11139263 PMID:11704030 PMID:11801511 PMID:11934323 PMID:12042139 PMID:12566026 PMID:14510799 PMID:15370544 PMID:16019073 PMID:16024869 PMID:16113362 PMID:16199547 PMID:16799052 PMID:16885924 PMID:16916875 PMID:17249552 PMID:17296903 PMID:17504850 PMID:17576681 PMID:17653047 PMID:18161617 PMID:18310263 PMID:19038374 PMID:19243827 PMID:19262438 PMID:20213611 PMID:20640437 PMID:21071739 PMID:21269699 PMID:22003107 PMID:22334370 PMID:22466463 PMID:22581970 PMID:22863181 PMID:23105016 PMID:23591405 PMID:23950152 PMID:24463884 PMID:24608669 PMID:25001182 PMID:25082885 PMID:25097241 PMID:25324289 PMID:25412400 PMID:25447119 PMID:25474345 PMID:25675413 PMID:25698705 PMID:25741868 PMID:25741916 PMID:25803555 PMID:25999674 PMID:26024099 PMID:26061163 PMID:26103963 PMID:26155838 PMID:26355662 PMID:26667666 PMID:26842753 PMID:27365499 PMID:27813578 PMID:28041643 PMID:28076437 PMID:28224992 PMID:28492532 PMID:28559085 PMID:28838317 PMID:29155698 PMID:29186038 PMID:29343940 PMID:29555955 PMID:29847639 PMID:30215852 PMID:30718709 PMID:30726412 PMID:30926958 PMID:31213501 PMID:31429209 PMID:31456290 PMID:31574917 PMID:31618092 PMID:32037395 PMID:32531846 PMID:32581362 PMID:32660024 PMID:32717343 PMID:33546218 PMID:34411390 PMID:34906036 PMID:34906470 More...
|
|
NCBI chrNW_004936476:17,159,756...17,174,226
Ensembl chrNW_004936476:17,160,016...17,173,981
|
|
G |
Rho |
rhodopsin |
|
ISO |
ClinVar Annotator: match by term: Stargardt disease 1 |
ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936602:896,730...901,480
Ensembl chrNW_004936602:894,617...901,664
|
|
|
G |
Adgrv1 |
adhesion G protein-coupled receptor V1 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome |
ClinVar |
PMID:14740321 PMID:15671307 PMID:16199547 PMID:19357117 PMID:22135276 PMID:22147658 PMID:24033266 PMID:24154662 PMID:24498627 PMID:25133751 PMID:25404053 PMID:25741868 PMID:26164827 PMID:26226137 PMID:26338283 PMID:26467025 PMID:26667666 PMID:26969326 PMID:27068579 PMID:27575413 PMID:28041643 PMID:28492532 PMID:29099798 PMID:30029497 PMID:30311386 PMID:30459346 PMID:30718709 PMID:30976395 PMID:31047384 PMID:31456290 PMID:31736247 PMID:31980526 PMID:32037395 PMID:32420686 PMID:32467589 PMID:32581362 PMID:33089500 PMID:33297549 PMID:35813073 PMID:36909829 More...
|
|
NCBI chrNW_004936469:8,653,031...9,209,840
|
|
G |
Arsg |
arylsulfatase G |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome |
ClinVar |
PMID:29300381 |
|
NCBI chrNW_004936541:7,664,241...7,782,762
Ensembl chrNW_004936541:7,703,214...7,782,799
|
|
G |
Atp6v1b1 |
ATPase H+ transporting V1 subunit B1 |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome |
ClinVar |
PMID:30311386 |
|
NCBI chrNW_004936491:15,112,422...15,138,716
Ensembl chrNW_004936491:15,112,321...15,139,525
|
|
G |
Bbs1 |
Bardet-Biedl syndrome 1 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness |
ClinVar |
PMID:12118255 PMID:12524598 PMID:12677556 PMID:12837689 PMID:15314642 PMID:17980398 PMID:18032602 PMID:18669544 PMID:18766993 PMID:20301537 PMID:20498079 PMID:21052717 PMID:21642631 PMID:22581970 PMID:22940089 PMID:22998390 PMID:23143442 PMID:23565731 PMID:23847139 PMID:23943788 PMID:24033266 PMID:25326635 PMID:25741868 PMID:26467025 PMID:26872967 PMID:27032803 PMID:27659767 PMID:28041643 PMID:28492532 PMID:29264490 PMID:30614526 PMID:30718709 PMID:33532864 PMID:36909829 More...
|
|
NCBI chrNW_004936599:3,059,274...3,076,853
Ensembl chrNW_004936599:3,059,148...3,076,299
|
|
G |
Bpnt1 |
3'(2'), 5'-bisphosphate nucleotidase 1 |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome |
ClinVar |
PMID:28041643 |
|
NCBI chrNW_004936650:2,113,933...2,138,487
Ensembl chrNW_004936650:2,113,649...2,138,934
|
|
G |
Cabp4 |
calcium binding protein 4 |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936599:2,295,124...2,299,558
Ensembl chrNW_004936599:2,293,000...2,300,322
|
|
G |
Ccdc40 |
coiled-coil domain 40 molecular ruler complex subunit |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936594:4,075,105...4,124,850
Ensembl chrNW_004936594:4,089,214...4,124,153
|
|
G |
Cep250 |
centrosomal protein 250 |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome |
ClinVar |
PMID:24780881 PMID:25741868 |
|
NCBI chrNW_004936561:5,283,258...5,331,688
Ensembl chrNW_004936561:5,280,959...5,322,038
|
|
G |
Cib2 |
calcium and integrin binding family member 2 |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome |
ClinVar |
PMID:24033266 PMID:25741868 PMID:26173970 PMID:26214305 PMID:26226137 PMID:26426422 PMID:26445815 PMID:26992781 PMID:28492532 PMID:28663585 PMID:29112224 PMID:30055715 PMID:30311386 PMID:34837038 More...
|
|
NCBI chrNW_004936471:36,859,018...36,879,170
Ensembl chrNW_004936471:36,859,018...36,878,878
|
|
G |
Clrn1 |
clarin 1 |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome |
ClinVar |
PMID:7407589 PMID:11524702 PMID:15521980 PMID:17407589 PMID:17893653 PMID:19753315 PMID:21675857 PMID:22952768 PMID:23304067 PMID:24033266 PMID:24498627 PMID:25472526 PMID:25741868 PMID:25743179 PMID:26338283 PMID:27460420 PMID:28224992 PMID:28492532 PMID:29545425 PMID:31097578 PMID:31836858 PMID:31963381 PMID:35481838 More...
|
|
NCBI chrNW_004936758:1,250,831...1,286,016
Ensembl chrNW_004936758:1,250,769...1,285,376
|
|
G |
Coch |
cochlin |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome |
ClinVar |
PMID:30311386 |
|
NCBI chrNW_004936494:5,617,201...5,633,500
Ensembl chrNW_004936494:5,617,016...5,633,083
|
|
G |
Col4a4 |
collagen type IV alpha 4 chain |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936525:8,788,753...8,899,671
Ensembl chrNW_004936525:8,795,436...8,899,149
|
|
G |
Crb1 |
crumbs cell polarity complex component 1 |
|
ISO |
ClinVar Annotator: match by term: Hallgren syndrome |
ClinVar |
PMID:10508521 PMID:11389483 PMID:12700176 PMID:20956273 PMID:24512366 PMID:25741868 PMID:26047050 PMID:28129017 PMID:28341475 PMID:28492532 PMID:29391521 PMID:30718709 PMID:33546218 PMID:34906470 More...
|
|
NCBI chrNW_004936567:6,347,661...6,559,731
Ensembl chrNW_004936567:6,366,489...6,559,766
|
|
G |
CUNH10orf105 |
chromosome unknown C10orf105 homolog |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome ClinVar Annotator: match by term: Dystrophia retinae pigmentosa-dysostosis syndrome | ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome |
ClinVar |
PMID:11138009 PMID:12075507 PMID:12522556 PMID:15537665 PMID:15660226 PMID:16199547 PMID:18273900 PMID:18429043 PMID:19683999 PMID:20146813 PMID:21228398 PMID:21569298 PMID:21940737 PMID:24033266 PMID:24875298 PMID:25468891 PMID:25741868 PMID:26467025 PMID:28492532 PMID:35020051 More...
|
|
NCBI chrNW_004936521:7,095,044...7,095,497
Ensembl chrNW_004936521:7,095,068...7,095,469
|
|
G |
CUNH1orf115 |
chromosome unknown C1orf115 homolog |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome |
ClinVar |
PMID:28041643 |
|
NCBI chrNW_004936650:1,575,098...1,586,515
Ensembl chrNW_004936650:1,575,083...1,586,548
|
|
G |
Dgkq |
diacylglycerol kinase theta |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936477:22,225,624...22,238,825
Ensembl chrNW_004936477:22,225,618...22,238,803
|
|
G |
Dusp10 |
dual specificity phosphatase 10 |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome |
ClinVar |
PMID:28041643 |
|
NCBI chrNW_004936650:679,650...718,867
Ensembl chrNW_004936650:679,647...720,038
|
|
G |
Eprs1 |
glutamyl-prolyl-tRNA synthetase 1 |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome |
ClinVar |
PMID:28041643 |
|
NCBI chrNW_004936650:2,145,614...2,219,812
Ensembl chrNW_004936650:2,145,607...2,220,019
|
|
G |
Esrrg |
estrogen related receptor gamma |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome |
ClinVar |
PMID:28041643 |
|
NCBI chrNW_004936628:1,635,161...2,058,198
Ensembl chrNW_004936628:1,830,881...2,058,269
|
|
G |
Gpatch2 |
G-patch domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome |
ClinVar |
PMID:28041643 |
|
NCBI chrNW_004936628:1,006,216...1,181,124
Ensembl chrNW_004936628:1,006,188...1,180,885
|
|
G |
Guca1a |
guanylate cyclase activator 1A |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome |
ClinVar |
PMID:11146732 PMID:28492532 PMID:30718709 |
|
NCBI chrNW_004936476:17,690,484...17,701,288
Ensembl chrNW_004936476:17,691,045...17,701,859
|
|
G |
Hars1 |
histidyl-tRNA synthetase 1 |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome |
ClinVar |
|
|
NCBI chrNW_004936531:9,610,335...9,625,203
Ensembl chrNW_004936531:9,610,306...9,625,551
|
|
G |
Hdac6 |
histone deacetylase 6 |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936721:757,500...778,416
Ensembl chrNW_004936721:758,181...778,053
|
|
G |
Hhipl2 |
HHIP like 2 |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome |
ClinVar |
PMID:28041643 |
|
NCBI chrNW_004936650:10,986...33,985
Ensembl chrNW_004936650:11,042...33,985
|
|
G |
Hlx |
H2.0 like homeobox |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome |
ClinVar |
PMID:28041643 |
|
NCBI chrNW_004936650:1,416,825...1,422,595
Ensembl chrNW_004936650:1,416,812...1,422,588
|
|
G |
Iars2 |
isoleucyl-tRNA synthetase 2, mitochondrial |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome |
ClinVar |
PMID:28041643 |
|
NCBI chrNW_004936650:2,056,921...2,112,487
Ensembl chrNW_004936650:2,056,921...2,112,767
|
|
G |
LOC101960714 |
cone-rod homeobox protein |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936664:1,408,618...1,419,096
Ensembl chrNW_004936664:1,409,229...1,419,234
|
|
G |
LOC101969963 |
cadherin-23 |
|
ISO |
ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome |
ClinVar |
PMID:2289998 PMID:2706105 PMID:9536098 PMID:11090341 PMID:11138009 PMID:11857743 PMID:12075507 PMID:12522556 PMID:15353998 PMID:15537665 PMID:15660226 PMID:16199547 PMID:16281288 PMID:16679490 PMID:16963483 PMID:17407589 PMID:17576681 PMID:17850630 PMID:18273900 PMID:18323324 PMID:18348277 PMID:18368581 PMID:18429043 PMID:18484607 PMID:19375528 PMID:19683999 PMID:20146813 PMID:20513143 PMID:20613545 PMID:20844544 PMID:21078986 PMID:21174530 PMID:21228398 PMID:21436283 PMID:21569298 PMID:21738395 PMID:21940737 PMID:22135276 PMID:22443853 PMID:22607986 PMID:22899989 PMID:22995991 PMID:23208854 PMID:23451239 PMID:23591405 PMID:23757202 PMID:23794683 PMID:23804846 PMID:23967202 PMID:24033266 PMID:24164807 PMID:24416283 PMID:24444108 PMID:24498627 PMID:24618850 PMID:24767429 PMID:24875298 PMID:25231367 PMID:25262649 PMID:25279224 PMID:25333064 PMID:25356970 PMID:25404053 PMID:25425308 PMID:25468891 PMID:25472526 PMID:25474345 PMID:25587757 PMID:25605338 PMID:25741868 PMID:25788563 PMID:25963016 PMID:25991456 PMID:26226137 PMID:26264712 PMID:26399936 PMID:26445815 PMID:26467025 PMID:26681316 PMID:26763877 PMID:26969326 PMID:27018795 PMID:27068579 PMID:27349180 PMID:27460420 PMID:27583405 PMID:27627659 PMID:27743452 PMID:27792758 PMID:27884173 PMID:28483220 PMID:28492532 PMID:28501645 PMID:28847902 PMID:28902392 PMID:28912962 PMID:29048421 PMID:29148562 PMID:29343940 PMID:29986705 PMID:30029624 PMID:30033219 PMID:30245029 PMID:30303587 PMID:30311386 PMID:30367262 PMID:30459346 PMID:30718709 PMID:30733538 PMID:31054281 PMID:31152317 PMID:31445392 PMID:32279305 PMID:32467589 PMID:32485727 PMID:32645618 PMID:32747562 PMID:32842620 PMID:32860223 PMID:32991204 PMID:33111992 PMID:33576794 PMID:34837038 PMID:34906470 PMID:34948090 PMID:34997822 PMID:35020051 PMID:35186827 PMID:35802133 PMID:36011334 PMID:36460718 PMID:36633841 PMID:36672845 More...
|
|
NCBI chrNW_004936521:7,078,874...7,285,361
Ensembl chrNW_004936521:7,010,360...7,340,842
|
|
G |
Lyplal1 |
lysophospholipase like 1 |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome |
ClinVar |
PMID:28041643 |
|
NCBI chrNW_004936650:2,933,661...2,960,558
Ensembl chrNW_004936650:2,933,306...2,960,846
|
|
G |
Mark1 |
microtubule affinity regulating kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome |
ClinVar |
PMID:28041643 |
|
NCBI chrNW_004936650:1,607,480...1,672,591
Ensembl chrNW_004936650:1,605,487...1,667,297
|
|
G |
Mtarc1 |
mitochondrial amidoxime reducing component 1 |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome |
ClinVar |
PMID:28041643 |
|
NCBI chrNW_004936650:1,477,138...1,504,501
Ensembl chrNW_004936650:1,478,037...1,504,611
|
|
G |
Mtarc2 |
mitochondrial amidoxime reducing component 2 |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome |
ClinVar |
PMID:28041643 |
|
NCBI chrNW_004936650:1,506,471...1,543,532
Ensembl chrNW_004936650:1,506,329...1,543,712
|
|
G |
Myo7a |
myosin VIIA |
|
ISO |
ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome | ClinVar Annotator: match by term: Usher's syndrome |
ClinVar |
PMID:3130723 PMID:7568224 PMID:7870171 PMID:8900236 PMID:9002678 PMID:9171832 PMID:9259201 PMID:9382091 PMID:9536098 PMID:9718356 PMID:10094549 PMID:10425080 PMID:10447383 PMID:10868224 PMID:10930322 PMID:12112664 PMID:15028842 PMID:15043528 PMID:15121790 PMID:15221449 PMID:15300860 PMID:15606003 PMID:15660226 PMID:15823922 PMID:16199547 PMID:16283880 PMID:16400615 PMID:16470552 PMID:16652077 PMID:16679490 PMID:16963483 PMID:17361009 PMID:17576681 PMID:17960123 PMID:18181211 PMID:18323324 PMID:18463160 PMID:18484607 PMID:18700726 PMID:19074810 PMID:19156839 PMID:19299023 PMID:19375528 PMID:19683999 PMID:19888295 PMID:20052763 PMID:20132242 PMID:20146813 PMID:20497194 PMID:20513143 PMID:20613545 PMID:20844544 PMID:21117948 PMID:21311020 PMID:21436283 PMID:21487335 PMID:21569298 PMID:21602428 PMID:21738395 PMID:21873662 PMID:21901789 PMID:22135276 PMID:22219650 PMID:22334370 PMID:22681893 PMID:22690115 PMID:22785243 PMID:22898263 PMID:22903915 PMID:23148716 PMID:23208854 PMID:23226338 PMID:23237960 PMID:23451214 PMID:23451239 PMID:23559863 PMID:23591405 PMID:23770805 PMID:23804846 PMID:23882135 PMID:23967202 PMID:24033266 PMID:24105371 PMID:24164807 PMID:24194196 PMID:24199935 PMID:24498627 PMID:24618850 PMID:24831256 PMID:24853665 PMID:24875298 PMID:24997346 PMID:25080338 PMID:25133751 PMID:25211151 PMID:25262649 PMID:25326637 PMID:25333064 PMID:25342930 PMID:25373420 PMID:25404053 PMID:25425308 PMID:25468891 PMID:25472526 PMID:25525159 PMID:25558175 PMID:25575603 PMID:25741868 PMID:25788563 PMID:25798947 PMID:26011067 PMID:26164827 PMID:26226137 PMID:26309859 PMID:26338283 PMID:26346818 PMID:26445815 PMID:26467025 PMID:26486028 PMID:26561413 PMID:26633542 PMID:26654877 PMID:26791358 PMID:26872967 PMID:26969326 PMID:27013738 PMID:27068579 PMID:27160483 PMID:27208204 PMID:27344577 PMID:27440999 PMID:27460420 PMID:27573290 PMID:27583663 PMID:27610647 PMID:27729122 PMID:27743452 PMID:27766948 PMID:27911912 PMID:27957503 PMID:28000701 PMID:28008688 PMID:28041643 PMID:28281779 PMID:28439001 PMID:28451532 PMID:28472130 PMID:28492532 PMID:28559085 PMID:28944237 PMID:28968992 PMID:29048421 PMID:29142287 PMID:29196752 PMID:29276601 PMID:29416772 PMID:29490346 PMID:29625443 PMID:29692870 PMID:30245029 PMID:30303587 PMID:30311386 PMID:30337596 PMID:30358468 PMID:30459346 PMID:30718709 PMID:30733538 PMID:30828346 PMID:30881389 PMID:31035849 PMID:31054281 PMID:31266775 PMID:31456290 PMID:31479088 PMID:31541171 PMID:31836858 PMID:31964843 PMID:32097363 PMID:32165824 PMID:32428919 PMID:32467589 PMID:32531858 PMID:32747562 PMID:32853555 PMID:32860223 PMID:33105617 PMID:33111345 PMID:33187236 PMID:33258288 PMID:33269433 PMID:33297549 PMID:33363762 PMID:33576163 PMID:33576794 PMID:33623043 PMID:33671976 PMID:33724713 PMID:33924653 PMID:34148116 PMID:34416374 PMID:34426522 PMID:34837038 PMID:34948090 PMID:35453549 PMID:35551639 PMID:35640668 PMID:35802133 PMID:36147510 PMID:36164746 PMID:36633841 PMID:36672771 PMID:36909829 More...
|
|
NCBI chrNW_004936498:5,758,572...5,824,526
Ensembl chrNW_004936498:5,751,779...5,824,378
|
|
G |
Otoa |
otoancorin |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome |
ClinVar |
PMID:23173898 PMID:24033266 PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936501:7,383,963...7,456,470
Ensembl chrNW_004936501:7,392,616...7,456,677
|
|
G |
Pax3 |
paired box 3 |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936569:4,215,513...4,307,815
Ensembl chrNW_004936569:4,216,900...4,307,815
|
|
G |
Pcdh15 |
protocadherin related 15 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome |
ClinVar |
PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 PMID:15028842 PMID:15537665 PMID:15660226 PMID:16679490 PMID:16963483 PMID:17576681 PMID:18484607 PMID:19375528 PMID:20301442 PMID:20672374 PMID:21569298 PMID:22135276 PMID:22183965 PMID:22815625 PMID:23967202 PMID:24033266 PMID:24105371 PMID:24164807 PMID:24498627 PMID:24618850 PMID:24831256 PMID:24940003 PMID:25262649 PMID:25307757 PMID:25468891 PMID:25525159 PMID:25741868 PMID:26166082 PMID:26467025 PMID:26791358 PMID:27058588 PMID:27440999 PMID:27460420 PMID:27861356 PMID:28041643 PMID:28281779 PMID:28492532 PMID:28847902 PMID:30245029 PMID:30311386 PMID:30718709 PMID:33576794 PMID:34416374 More...
|
|
NCBI chrNW_004936910:233,800...602,145
Ensembl chrNW_004936910:141,917...602,089
|
|
G |
Pde6a |
phosphodiesterase 6A |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome |
ClinVar |
PMID:24265693 PMID:25182519 PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936504:5,018,171...5,088,333
Ensembl chrNW_004936504:5,018,064...5,092,024
|
|
G |
Pdzd7 |
PDZ domain containing 7 |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936600:4,660,211...4,678,911
Ensembl chrNW_004936600:4,661,332...4,678,107
|
|
G |
Prom1 |
prominin 1 |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome |
ClinVar |
PMID:9536098 PMID:17576681 PMID:28492532 |
|
NCBI chrNW_004936477:11,878,261...12,017,228
Ensembl chrNW_004936477:11,878,012...12,018,177
|
|
G |
Prph2 |
peripherin 2 |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome |
ClinVar |
PMID:25741868 PMID:28492532 PMID:32531846 |
|
NCBI chrNW_004936476:17,159,756...17,174,226
Ensembl chrNW_004936476:17,160,016...17,173,981
|
|
G |
Psap |
prosaposin |
|
ISO |
ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome |
ClinVar |
PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 PMID:25991456 PMID:28492532 More...
|
|
NCBI chrNW_004936521:6,975,844...7,009,460
Ensembl chrNW_004936521:6,975,770...7,009,136
|
|
G |
Rab3gap2 |
RAB3 GTPase activating non-catalytic protein subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome |
ClinVar |
PMID:28041643 |
|
NCBI chrNW_004936650:1,944,291...2,054,847
Ensembl chrNW_004936650:1,944,346...2,056,665
|
|
G |
Rrp15 |
ribosomal RNA processing 15 homolog |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome |
ClinVar |
PMID:28041643 |
|
NCBI chrNW_004936628:408,854...456,464
Ensembl chrNW_004936628:408,911...456,425
|
|
G |
Spata17 |
spermatogenesis associated 17 |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome |
ClinVar |
PMID:28041643 |
|
NCBI chrNW_004936628:813,437...1,006,000
|
|
G |
Taf1a |
TATA-box binding protein associated factor, RNA polymerase I subunit A |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome |
ClinVar |
PMID:28041643 |
|
NCBI chrNW_004936650:7...6,758
|
|
G |
Tgfb2 |
transforming growth factor beta 2 |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome |
ClinVar |
PMID:28041643 |
|
NCBI chrNW_004936628:310,720...394,002
Ensembl chrNW_004936628:308,691...394,007
|
|
G |
Ush1c |
USH1 protein network component harmonin |
treatment |
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome |
RGD ClinVar |
PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 PMID:11239869 PMID:11810303 PMID:12107438 PMID:12136232 PMID:12630964 PMID:12702164 PMID:15578223 PMID:15660226 PMID:16199547 PMID:16679490 PMID:17174357 PMID:17407589 PMID:18665195 PMID:20095043 PMID:20142502 PMID:20301442 PMID:20613545 PMID:20671281 PMID:21203349 PMID:21436283 PMID:21487335 PMID:21569298 PMID:22135276 PMID:23380860 PMID:24033266 PMID:24498627 PMID:25468891 PMID:25525159 PMID:25560255 PMID:25741868 PMID:26969326 PMID:27440999 PMID:27957503 PMID:28041643 PMID:28492532 PMID:29276601 PMID:29907799 PMID:30096381 PMID:30303587 PMID:30718709 More...
|
RGD:8695937 |
NCBI chrNW_004936528:1,552,175...1,594,740
Ensembl chrNW_004936528:1,552,289...1,594,801
|
|
G |
Ush1g |
USH1 protein network component sans |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936594:258,115...262,739
Ensembl chrNW_004936594:259,030...262,778
|
|
G |
Ush2a |
usherin |
susceptibility |
ISO |
DNA:snps, insertion:exon, intron:multiple (human) ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome |
RGD ClinVar |
PMID:1968399 PMID:2525289 PMID:2564938 PMID:9536098 PMID:9624053 PMID:10090909 PMID:10729113 PMID:10738000 PMID:10775529 PMID:10909849 PMID:11311042 PMID:11402400 PMID:12112664 PMID:12427073 PMID:12525556 PMID:14970843 PMID:15015129 PMID:15025721 PMID:15043528 PMID:15241801 PMID:15325563 PMID:15326663 PMID:15671307 PMID:15823922 PMID:16098008 PMID:16114888 PMID:16199547 PMID:16963483 PMID:17085681 PMID:17296898 PMID:17405132 PMID:17576681 PMID:18273898 PMID:18281613 PMID:18452394 PMID:18463160 PMID:18641288 PMID:18665195 PMID:19023448 PMID:19129697 PMID:19683999 PMID:19737284 PMID:19881469 PMID:20052763 PMID:20145675 PMID:20301442 PMID:20301515 PMID:20440071 PMID:20497194 PMID:20507924 PMID:20591486 PMID:20596040 PMID:21151602 PMID:21569298 PMID:21593743 PMID:21686329 PMID:21738395 PMID:21909055 PMID:22004887 PMID:22009552 PMID:22025579 PMID:22135276 PMID:22334370 PMID:22581970 PMID:22681893 PMID:22952768 PMID:23591405 PMID:23661368 PMID:23737954 PMID:23804846 PMID:23924366 PMID:23940504 PMID:23967202 PMID:23991284 PMID:24033266 PMID:24088041 PMID:24154662 PMID:24160897 PMID:24265693 PMID:24367894 PMID:24498627 PMID:24516651 PMID:24603341 PMID:24607488 PMID:24618324 PMID:24625443 PMID:24853665 PMID:24901346 PMID:24938718 PMID:24944099 PMID:25078356 PMID:25097241 PMID:25133613 PMID:25133751 PMID:25252889 PMID:25261458 PMID:25262649 PMID:25268133 PMID:25324289 PMID:25326637 PMID:25333064 PMID:25342620 PMID:25356976 PMID:25366773 PMID:25375654 PMID:25404053 PMID:25412400 PMID:25425308 PMID:25472526 PMID:25521520 PMID:25525159 PMID:25558175 PMID:25575603 PMID:25649381 PMID:25741868 PMID:25804404 PMID:25823529 PMID:25910913 PMID:25991456 PMID:25999674 PMID:26075083 PMID:26164827 PMID:26261414 PMID:26306921 PMID:26310143 PMID:26338283 PMID:26352687 PMID:26355662 PMID:26416264 PMID:26467025 PMID:26496393 PMID:26629787 PMID:26633545 PMID:26667666 PMID:26764160 PMID:26766544 PMID:26806561 PMID:26856745 PMID:26872967 PMID:26927203 PMID:26969326 PMID:27032803 PMID:27157150 PMID:27160483 PMID:27208204 PMID:27318125 PMID:27460420 PMID:27583663 PMID:27596865 PMID:27624628 PMID:27957503 PMID:28041643 PMID:28118666 PMID:28130426 PMID:28157192 PMID:28224992 PMID:28492532 PMID:28512305 PMID:28559085 PMID:28653555 PMID:28678594 PMID:28761320 PMID:28798898 PMID:28894305 PMID:28944237 PMID:28981474 PMID:29074561 PMID:29142287 PMID:29196752 PMID:29266521 PMID:29276052 PMID:29283788 PMID:29293505 PMID:29343940 PMID:29490346 PMID:29588463 PMID:29625443 PMID:29641573 PMID:29655801 PMID:29767709 PMID:29899460 PMID:29912909 PMID:29940899 PMID:29953849 PMID:30029497 PMID:30081015 PMID:30190494 PMID:30192042 PMID:30245029 PMID:30280194 PMID:30311386 PMID:30337596 PMID:30459346 PMID:30543658 PMID:30718709 PMID:30796641 PMID:30826590 PMID:30872814 PMID:30902645 PMID:30924848 PMID:30948794 PMID:31047384 PMID:31054281 PMID:31144483 PMID:31152317 PMID:31213501 PMID:31266775 PMID:31370859 PMID:31429209 PMID:31456290 PMID:31581539 PMID:31589614 PMID:31699113 PMID:31736247 PMID:31816670 PMID:31817543 PMID:31836858 PMID:31877679 PMID:31904091 PMID:31960602 PMID:31980526 PMID:31998945 PMID:32037395 PMID:32093671 PMID:32098976 PMID:32100970 PMID:32176120 PMID:32188678 PMID:32319668 PMID:32483926 PMID:32531858 PMID:32552793 PMID:32579692 PMID:32581362 PMID:32637036 PMID:32675063 PMID:32707200 PMID:32893482 PMID:33089500 PMID:33090715 PMID:33111345 PMID:33124170 PMID:33576794 PMID:33691693 PMID:33749171 PMID:33781268 PMID:33946315 PMID:34008892 PMID:34130719 PMID:34148116 PMID:34203967 PMID:34416374 PMID:34426522 PMID:34599368 PMID:34638692 PMID:34781295 PMID:34906470 PMID:34948090 PMID:35266249 PMID:35457016 PMID:35672425 PMID:36011334 PMID:36314366 PMID:36460718 PMID:36909829 PMID:37322672 More...
|
RGD:8547956 |
NCBI chrNW_004936628:2,123,917...2,859,958
Ensembl chrNW_004936628:2,123,957...2,858,872
|
|
G |
Whrn |
whirlin |
|
ISO |
ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Usher syndrome |
ClinVar |
PMID:11973626 PMID:12833159 PMID:15841483 PMID:21569298 PMID:22147658 PMID:24033266 PMID:25741868 PMID:28492532 More...
|
|
NCBI chrNW_004936487:3,668,465...3,748,234
Ensembl chrNW_004936487:3,669,104...3,748,238
|
|
G |
Zdhhc24 |
zinc finger DHHC-type containing 24 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness |
ClinVar |
PMID:12118255 PMID:12524598 PMID:12677556 PMID:12837689 PMID:15314642 PMID:17980398 PMID:18032602 PMID:18669544 PMID:18766993 PMID:20301537 PMID:20498079 PMID:21052717 PMID:21642631 PMID:22581970 PMID:22940089 PMID:22998390 PMID:23143442 PMID:23565731 PMID:23847139 PMID:23943788 PMID:24033266 PMID:25326635 PMID:25741868 PMID:26467025 PMID:26872967 PMID:27032803 PMID:27659767 PMID:28041643 PMID:28492532 PMID:29264490 PMID:30614526 PMID:30718709 PMID:33532864 PMID:36909829 More...
|
|
NCBI chrNW_004936599:3,047,011...3,054,512
Ensembl chrNW_004936599:3,047,011...3,054,498
|
|
|
G |
Adgrv1 |
adhesion G protein-coupled receptor V1 |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome type 1 |
ClinVar |
PMID:21569298 PMID:24033266 PMID:28492532 |
|
NCBI chrNW_004936469:8,653,031...9,209,840
|
|
G |
Cib2 |
calcium and integrin binding family member 2 |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome type 1 |
ClinVar |
PMID:18505454 PMID:20301442 PMID:23023331 |
|
NCBI chrNW_004936471:36,859,018...36,879,170
Ensembl chrNW_004936471:36,859,018...36,878,878
|
|
G |
CUNH10orf105 |
chromosome unknown C10orf105 homolog |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome type 1 |
ClinVar |
PMID:9536098 PMID:11090341 PMID:11138009 PMID:12075507 PMID:12522556 PMID:15537665 PMID:15660226 PMID:16199547 PMID:17576681 PMID:18273900 PMID:18429043 PMID:19683999 PMID:20146813 PMID:20613545 PMID:21228398 PMID:21569298 PMID:21940737 PMID:22135276 PMID:24033266 PMID:24875298 PMID:25468891 PMID:25741868 PMID:26467025 PMID:27460420 PMID:28492532 PMID:30311386 PMID:35020051 More...
|
|
NCBI chrNW_004936521:7,095,044...7,095,497
Ensembl chrNW_004936521:7,095,068...7,095,469
|
|
G |
Espn |
espin |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome type 1 |
ClinVar |
PMID:29572253 |
|
NCBI chrNW_004936623:1,220,435...1,249,743
Ensembl chrNW_004936623:1,220,593...1,248,993
|
|
G |
LOC101969963 |
cadherin-23 |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome type 1 |
ClinVar |
PMID:2289998 PMID:2706105 PMID:9536098 PMID:11090341 PMID:11138009 PMID:11857743 PMID:12075507 PMID:12522556 PMID:15353998 PMID:15537665 PMID:15660226 PMID:16199547 PMID:16281288 PMID:16679490 PMID:16963483 PMID:17407589 PMID:17576681 PMID:17850630 PMID:18273900 PMID:18323324 PMID:18348277 PMID:18368581 PMID:18429043 PMID:18484607 PMID:19375528 PMID:19683999 PMID:20052763 PMID:20146813 PMID:20513143 PMID:20613545 PMID:20844544 PMID:21078986 PMID:21228398 PMID:21436283 PMID:21569298 PMID:21738395 PMID:21940737 PMID:22135276 PMID:22443853 PMID:22607986 PMID:22899989 PMID:22995991 PMID:23208854 PMID:23451239 PMID:23591405 PMID:23757202 PMID:23767834 PMID:23794683 PMID:23804846 PMID:23967202 PMID:24033266 PMID:24164807 PMID:24416283 PMID:24498627 PMID:24618850 PMID:24767429 PMID:24875298 PMID:25211151 PMID:25231367 PMID:25262649 PMID:25279224 PMID:25356970 PMID:25404053 PMID:25425308 PMID:25468891 PMID:25472526 PMID:25474345 PMID:25587757 PMID:25605338 PMID:25741868 PMID:25788563 PMID:25963016 PMID:25991456 PMID:26226137 PMID:26264712 PMID:26399936 PMID:26445815 PMID:26467025 PMID:26763877 PMID:26969326 PMID:27018795 PMID:27068579 PMID:27349180 PMID:27460420 PMID:27583405 PMID:27583663 PMID:27610647 PMID:27627659 PMID:27743452 PMID:27792758 PMID:27884173 PMID:28383030 PMID:28413019 PMID:28483220 PMID:28492532 PMID:28847902 PMID:28912962 PMID:29148562 PMID:29343940 PMID:29986705 PMID:30029624 PMID:30033219 PMID:30123251 PMID:30245029 PMID:30303587 PMID:30311386 PMID:30367262 PMID:30459346 PMID:30718709 PMID:30733538 PMID:31054281 PMID:31152317 PMID:31231422 PMID:31445392 PMID:32467589 PMID:32483926 PMID:32485727 PMID:32645618 PMID:32991204 PMID:33089500 PMID:33111992 PMID:33316915 PMID:33924653 PMID:34403091 PMID:34837038 PMID:35020051 PMID:35186827 PMID:35982127 PMID:36011334 More...
|
|
NCBI chrNW_004936521:7,078,874...7,285,361
Ensembl chrNW_004936521:7,010,360...7,340,842
|
|
G |
Myo7a |
myosin VIIA |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome type 1 |
ClinVar |
PMID:3130723 PMID:7568224 PMID:7870171 PMID:8900236 PMID:9002678 PMID:9171832 PMID:9259201 PMID:9382091 PMID:9536098 PMID:9718356 PMID:10094549 PMID:10425080 PMID:10447383 PMID:10868224 PMID:10930322 PMID:12112664 PMID:15028842 PMID:15043528 PMID:15121790 PMID:15221449 PMID:15300860 PMID:15606003 PMID:15660226 PMID:15823922 PMID:16199547 PMID:16283880 PMID:16400615 PMID:16470552 PMID:16652077 PMID:16679490 PMID:16786533 PMID:16963483 PMID:17093394 PMID:17361009 PMID:17576681 PMID:17960123 PMID:18181211 PMID:18323324 PMID:18463160 PMID:18484607 PMID:18700726 PMID:19074810 PMID:19156839 PMID:19299023 PMID:19683999 PMID:20052763 PMID:20146813 PMID:20497194 PMID:20513143 PMID:20613545 PMID:20844544 PMID:21117948 PMID:21311020 PMID:21436283 PMID:21487335 PMID:21569298 PMID:21602428 PMID:21738395 PMID:21873662 PMID:21901789 PMID:22135276 PMID:22219650 PMID:22334370 PMID:22593002 PMID:22681893 PMID:22690115 PMID:22785243 PMID:22898263 PMID:22903915 PMID:23148716 PMID:23208854 PMID:23226338 PMID:23237960 PMID:23451214 PMID:23451239 PMID:23559863 PMID:23591405 PMID:23770805 PMID:23804846 PMID:23882135 PMID:23967202 PMID:24033266 PMID:24105371 PMID:24164807 PMID:24194196 PMID:24199935 PMID:24498627 PMID:24618850 PMID:24831256 PMID:24853665 PMID:24875298 PMID:24997346 PMID:25080338 PMID:25133751 PMID:25211151 PMID:25262649 PMID:25333064 PMID:25342930 PMID:25373420 PMID:25404053 PMID:25425308 PMID:25468891 PMID:25472526 PMID:25525159 PMID:25558175 PMID:25575603 PMID:25741868 PMID:25788563 PMID:25798947 PMID:26011067 PMID:26164827 PMID:26226137 PMID:26309859 PMID:26338283 PMID:26346818 PMID:26445815 PMID:26467025 PMID:26469752 PMID:26486028 PMID:26561413 PMID:26633542 PMID:26654877 PMID:26791358 PMID:26872967 PMID:26969326 PMID:27068579 PMID:27160483 PMID:27208204 PMID:27344577 PMID:27440999 PMID:27460420 PMID:27573290 PMID:27583663 PMID:27610647 PMID:27729122 PMID:27743452 PMID:27766948 PMID:27911912 PMID:27957503 PMID:28000701 PMID:28008688 PMID:28041643 PMID:28281779 PMID:28439001 PMID:28472130 PMID:28492532 PMID:28559085 PMID:28944237 PMID:28968992 PMID:29048421 PMID:29142287 PMID:29196752 PMID:29276601 PMID:29416772 PMID:29490346 PMID:29625443 PMID:29692870 PMID:30245029 PMID:30303587 PMID:30311386 PMID:30337596 PMID:30358468 PMID:30459346 PMID:30718709 PMID:30733538 PMID:30828346 PMID:30881389 PMID:31035849 PMID:31266775 PMID:31429209 PMID:31456290 PMID:31479088 PMID:31541171 PMID:31816670 PMID:31836858 PMID:31964843 PMID:32097363 PMID:32428919 PMID:32467589 PMID:32531858 PMID:32747562 PMID:32853555 PMID:32860223 PMID:33105617 PMID:33111345 PMID:33187236 PMID:33269433 PMID:33297549 PMID:33363762 PMID:33576163 PMID:33576794 PMID:33623043 PMID:33671976 PMID:33724713 PMID:33924653 PMID:34148116 PMID:34416374 PMID:34426522 PMID:34837038 PMID:34948090 PMID:35453549 PMID:35551639 PMID:35640668 PMID:35802133 PMID:36147510 PMID:36164746 PMID:36633841 PMID:36672771 PMID:36909829 More...
|
|
NCBI chrNW_004936498:5,758,572...5,824,526
Ensembl chrNW_004936498:5,751,779...5,824,378
|
|
G |
Pcdh15 |
protocadherin related 15 |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome type 1 |
ClinVar |
PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 PMID:15028842 PMID:15537665 PMID:15660226 PMID:16679490 PMID:16963483 PMID:17576681 PMID:20301442 PMID:20672374 PMID:21569298 PMID:22135276 PMID:22183965 PMID:22815625 PMID:23967202 PMID:24033266 PMID:24105371 PMID:24164807 PMID:24498627 PMID:24618850 PMID:24831256 PMID:24940003 PMID:25262649 PMID:25307757 PMID:25468891 PMID:25525159 PMID:25741868 PMID:26166082 PMID:26467025 PMID:26791358 PMID:26969326 PMID:27058588 PMID:27208204 PMID:27440999 PMID:27460420 PMID:27610647 PMID:27766948 PMID:27861356 PMID:28492532 PMID:28847902 PMID:30245029 PMID:30311386 PMID:30718709 PMID:31054281 PMID:33090715 PMID:33576794 PMID:34416374 More...
|
|
NCBI chrNW_004936910:233,800...602,145
Ensembl chrNW_004936910:141,917...602,089
|
|
G |
Psap |
prosaposin |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome type 1 |
ClinVar |
PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 PMID:25991456 PMID:28492532 More...
|
|
NCBI chrNW_004936521:6,975,844...7,009,460
Ensembl chrNW_004936521:6,975,770...7,009,136
|
|
G |
Ush1c |
USH1 protein network component harmonin |
onset |
ISO |
DNA:deletion:exon:c.1220delG(human) ClinVar Annotator: match by term: Usher syndrome type 1 |
RGD ClinVar |
PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 PMID:11239869 PMID:11810303 PMID:12107438 PMID:12136232 PMID:12630964 PMID:12702164 PMID:15578223 PMID:15660226 PMID:16199547 PMID:16679490 PMID:17174357 PMID:17407589 PMID:18665195 PMID:20095043 PMID:20142502 PMID:20301442 PMID:20613545 PMID:20671281 PMID:21203349 PMID:21436283 PMID:21487335 PMID:21569298 PMID:22135276 PMID:23251578 PMID:24033266 PMID:24498627 PMID:25356976 PMID:25468891 PMID:25525159 PMID:25560255 PMID:25741868 PMID:26969326 PMID:27440999 PMID:27957503 PMID:28041643 PMID:28492532 PMID:29276601 PMID:29907799 PMID:30096381 PMID:30303587 PMID:30718709 PMID:33095980 More...
|
RGD:8695919 |
NCBI chrNW_004936528:1,552,175...1,594,740
Ensembl chrNW_004936528:1,552,289...1,594,801
|
|
G |
Ush1g |
USH1 protein network component sans |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome type 1 |
ClinVar |
PMID:11941484 PMID:12588794 PMID:21569298 PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936594:258,115...262,739
Ensembl chrNW_004936594:259,030...262,778
|
|
G |
Ush2a |
usherin |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome type 1 |
ClinVar |
PMID:20301442 PMID:21569298 PMID:24033266 PMID:25741868 PMID:26667666 PMID:26927203 PMID:28041643 PMID:28492532 PMID:28559085 PMID:30245029 PMID:32531858 PMID:34906470 More...
|
|
NCBI chrNW_004936628:2,123,917...2,859,958
Ensembl chrNW_004936628:2,123,957...2,858,872
|
|
|
G |
CUNH10orf105 |
chromosome unknown C10orf105 homolog |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B |
ClinVar |
PMID:11138009 PMID:12075507 PMID:12522556 PMID:15537665 PMID:15660226 PMID:18273900 PMID:18429043 PMID:19683999 PMID:20146813 PMID:21228398 PMID:21569298 PMID:24033266 PMID:24875298 PMID:25468891 PMID:25741868 PMID:26467025 PMID:28492532 PMID:35020051 More...
|
|
NCBI chrNW_004936521:7,095,044...7,095,497
Ensembl chrNW_004936521:7,095,068...7,095,469
|
|
G |
LOC101969963 |
cadherin-23 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B | ClinVar Annotator: match by term: Usher syndrome, type I, French variety |
ClinVar |
PMID:2289998 PMID:2706105 PMID:9536098 PMID:11090341 PMID:11138009 PMID:11857743 PMID:12075507 PMID:12522556 PMID:15353998 PMID:15537665 PMID:15660226 PMID:16281288 PMID:16679490 PMID:16963483 PMID:17407589 PMID:17576681 PMID:17850630 PMID:18273900 PMID:18323324 PMID:18348277 PMID:18368581 PMID:18429043 PMID:18484607 PMID:19375528 PMID:19683999 PMID:20146813 PMID:20513143 PMID:20613545 PMID:20844544 PMID:21078986 PMID:21228398 PMID:21436283 PMID:21569298 PMID:21738395 PMID:21940737 PMID:22135276 PMID:22443853 PMID:22607986 PMID:22899989 PMID:22995991 PMID:23208854 PMID:23451239 PMID:23591405 PMID:23757202 PMID:23794683 PMID:23804846 PMID:23967202 PMID:24033266 PMID:24164807 PMID:24416283 PMID:24498627 PMID:24618850 PMID:24767429 PMID:24875298 PMID:25231367 PMID:25262649 PMID:25279224 PMID:25356970 PMID:25404053 PMID:25425308 PMID:25468891 PMID:25472526 PMID:25474345 PMID:25587757 PMID:25605338 PMID:25741868 PMID:25788563 PMID:25963016 PMID:25991456 PMID:26226137 PMID:26264712 PMID:26399936 PMID:26445815 PMID:26467025 PMID:26763877 PMID:26969326 PMID:27018795 PMID:27068579 PMID:27349180 PMID:27460420 PMID:27583405 PMID:27627659 PMID:27743452 PMID:27792758 PMID:27884173 PMID:28483220 PMID:28492532 PMID:28847902 PMID:28912962 PMID:29148562 PMID:29343940 PMID:29986705 PMID:30029624 PMID:30033219 PMID:30245029 PMID:30303587 PMID:30311386 PMID:30367262 PMID:30459346 PMID:30718709 PMID:30733538 PMID:31054281 PMID:31152317 PMID:31445392 PMID:32467589 PMID:32485727 PMID:32645618 PMID:32991204 PMID:33111992 PMID:34837038 PMID:35020051 PMID:35186827 PMID:36011334 More...
|
|
NCBI chrNW_004936521:7,078,874...7,285,361
Ensembl chrNW_004936521:7,010,360...7,340,842
|
|
G |
Myo7a |
myosin VIIA |
treatment |
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B | ClinVar Annotator: match by term: Usher syndrome, type I, French variety |
OMIM ClinVar RGD |
PMID:3130723 PMID:7568224 PMID:7870171 PMID:7951250 PMID:8900236 PMID:9002678 PMID:9171832 PMID:9171833 PMID:9259201 PMID:9354784 PMID:9382091 PMID:9536098 PMID:9718356 PMID:9843659 PMID:10094549 PMID:10425080 PMID:10447383 PMID:10868224 PMID:10930322 PMID:11391666 PMID:12112664 PMID:15028842 PMID:15043528 PMID:15121790 PMID:15221449 PMID:15300860 PMID:15606003 PMID:15660226 PMID:15823922 PMID:16199547 PMID:16283880 PMID:16400615 PMID:16470552 PMID:16652077 PMID:16679490 PMID:16963483 PMID:17361009 PMID:17576681 PMID:17960123 PMID:18181211 PMID:18323324 PMID:18463160 PMID:18484607 PMID:18700726 PMID:19074810 PMID:19156839 PMID:19299023 PMID:19683999 PMID:20052763 PMID:20146813 PMID:20497194 PMID:20513143 PMID:20613545 PMID:20844544 PMID:21117948 PMID:21150918 PMID:21311020 PMID:21436283 PMID:21487335 PMID:21569298 PMID:21602428 PMID:21738395 PMID:21873662 PMID:21901789 PMID:22135276 PMID:22219650 PMID:22334370 PMID:22681893 PMID:22690115 PMID:22785243 PMID:22898263 PMID:22903915 PMID:23148716 PMID:23208854 PMID:23226338 PMID:23237960 PMID:23383098 PMID:23451214 PMID:23451239 PMID:23559863 PMID:23591405 PMID:23770805 PMID:23804846 PMID:23882135 PMID:23967202 PMID:23991031 PMID:24033266 PMID:24105371 PMID:24164807 PMID:24194196 PMID:24199935 PMID:24498627 PMID:24618850 PMID:24831256 PMID:24853665 PMID:24875298 PMID:24997346 PMID:25080338 PMID:25133751 PMID:25211151 PMID:25262649 PMID:25333064 PMID:25342930 PMID:25373420 PMID:25404053 PMID:25425308 PMID:25468891 PMID:25472526 PMID:25525159 PMID:25558175 PMID:25575603 PMID:25741868 PMID:25788563 PMID:25798947 PMID:26011067 PMID:26164827 PMID:26226137 PMID:26309859 PMID:26338283 PMID:26346818 PMID:26445815 PMID:26467025 PMID:26486028 PMID:26561413 PMID:26633542 PMID:26654877 PMID:26791358 PMID:26872967 PMID:26969326 PMID:27068579 PMID:27160483 PMID:27208204 PMID:27344577 PMID:27440999 PMID:27460420 PMID:27573290 PMID:27583663 PMID:27610647 PMID:27729122 PMID:27743452 PMID:27766948 PMID:27911912 PMID:27957503 PMID:28000701 PMID:28008688 PMID:28041643 PMID:28281779 PMID:28439001 PMID:28451532 PMID:28472130 PMID:28492532 PMID:28559085 PMID:28731162 PMID:28944237 PMID:28968992 PMID:29048421 PMID:29142287 PMID:29178603 PMID:29196752 PMID:29276601 PMID:29416772 PMID:29490346 PMID:29625443 PMID:29692870 PMID:30029497 PMID:30245029 PMID:30303587 PMID:30311386 PMID:30337596 PMID:30358468 PMID:30390570 PMID:30459346 PMID:30718709 PMID:30733538 PMID:30828346 PMID:30881389 PMID:31035849 PMID:31054281 PMID:31266775 PMID:31456290 PMID:31479088 PMID:31541171 PMID:31964843 PMID:32097363 PMID:32428919 PMID:32467589 PMID:32531858 PMID:32747562 PMID:32853555 PMID:32860223 PMID:33089500 PMID:33105617 PMID:33111345 PMID:33187236 PMID:33269433 PMID:33297549 PMID:33363762 PMID:33576163 PMID:33576794 PMID:33623043 PMID:33671976 PMID:33724713 PMID:33924653 PMID:34148116 PMID:34416374 PMID:34426522 PMID:34837038 PMID:34948090 PMID:35453549 PMID:35551639 PMID:35640668 PMID:35802133 PMID:36147510 PMID:36164746 PMID:36633841 PMID:36672771 PMID:36909829 More...
|
RGD:8694151 |
NCBI chrNW_004936498:5,758,572...5,824,526
Ensembl chrNW_004936498:5,751,779...5,824,378
|
|
G |
Pcdh15 |
protocadherin related 15 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B | ClinVar Annotator: match by term: Usher syndrome, type I, French variety |
ClinVar |
PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 PMID:15028842 PMID:15537665 PMID:15660226 PMID:16679490 PMID:16963483 PMID:17576681 PMID:20301442 PMID:20672374 PMID:21569298 PMID:22135276 PMID:22183965 PMID:22815625 PMID:23967202 PMID:24033266 PMID:24105371 PMID:24164807 PMID:24498627 PMID:24618850 PMID:24831256 PMID:24940003 PMID:25262649 PMID:25307757 PMID:25468891 PMID:25525159 PMID:25741868 PMID:26166082 PMID:26467025 PMID:26791358 PMID:27058588 PMID:27440999 PMID:27460420 PMID:27861356 PMID:28492532 PMID:28847902 PMID:30245029 PMID:30311386 PMID:30718709 PMID:33576794 PMID:34416374 More...
|
|
NCBI chrNW_004936910:233,800...602,145
Ensembl chrNW_004936910:141,917...602,089
|
|
G |
Psap |
prosaposin |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness |
ClinVar |
PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 PMID:25991456 PMID:28492532 More...
|
|
NCBI chrNW_004936521:6,975,844...7,009,460
Ensembl chrNW_004936521:6,975,770...7,009,136
|
|
G |
Ush1c |
USH1 protein network component harmonin |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness |
ClinVar |
PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 PMID:11239869 PMID:11810303 PMID:12107438 PMID:12136232 PMID:12630964 PMID:12702164 PMID:15578223 PMID:15660226 PMID:16199547 PMID:16679490 PMID:17174357 PMID:17407589 PMID:18665195 PMID:20095043 PMID:20142502 PMID:20301442 PMID:20613545 PMID:20671281 PMID:21203349 PMID:21436283 PMID:21487335 PMID:21569298 PMID:22135276 PMID:24033266 PMID:24498627 PMID:25468891 PMID:25525159 PMID:25560255 PMID:25741868 PMID:26969326 PMID:27440999 PMID:27957503 PMID:28041643 PMID:28492532 PMID:29276601 PMID:29907799 PMID:30096381 PMID:30303587 PMID:30718709 More...
|
|
NCBI chrNW_004936528:1,552,175...1,594,740
Ensembl chrNW_004936528:1,552,289...1,594,801
|
|
|
G |
Ush1c |
USH1 protein network component harmonin |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome type 1C |
OMIM ClinVar |
PMID:9536098 PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 PMID:11239869 PMID:11810303 PMID:12107438 PMID:12136232 PMID:12630964 PMID:12702164 PMID:15578223 PMID:15660226 PMID:16199547 PMID:16679490 PMID:16963483 PMID:17174357 PMID:17407589 PMID:17576681 PMID:18665195 PMID:19297620 PMID:20095043 PMID:20142502 PMID:20146813 PMID:20301442 PMID:20613545 PMID:20671281 PMID:21203349 PMID:21436283 PMID:21487335 PMID:21569298 PMID:22135276 PMID:22581970 PMID:23251578 PMID:23967202 PMID:24033266 PMID:24154662 PMID:24416283 PMID:24498627 PMID:24618850 PMID:24875298 PMID:25262649 PMID:25333064 PMID:25356976 PMID:25468891 PMID:25525159 PMID:25560255 PMID:25741868 PMID:25788563 PMID:26445815 PMID:26467025 PMID:26969326 PMID:27208204 PMID:27440999 PMID:27460420 PMID:27743452 PMID:27957503 PMID:28041643 PMID:28492532 PMID:29276601 PMID:29490346 PMID:29625443 PMID:29739340 PMID:29907799 PMID:30096381 PMID:30245029 PMID:30303587 PMID:30311386 PMID:30718709 PMID:31858762 PMID:32036094 PMID:32467589 PMID:32531858 PMID:33095980 PMID:33781268 PMID:34148116 More...
|
|
NCBI chrNW_004936528:1,552,175...1,594,740
Ensembl chrNW_004936528:1,552,289...1,594,801
|
|
|
G |
CUNH10orf105 |
chromosome unknown C10orf105 homolog |
|
ISO |
ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID | ClinVar Annotator: match by term: Usher syndrome type 1D |
ClinVar |
PMID:11090341 PMID:11138009 PMID:12075507 PMID:15537665 PMID:15660226 PMID:17850630 PMID:18273900 PMID:18429043 PMID:20146813 PMID:20613545 PMID:21228398 PMID:21569298 PMID:21940737 PMID:22135276 PMID:22899989 PMID:24033266 PMID:24875298 PMID:25468891 PMID:25741868 PMID:25991456 PMID:26467025 PMID:27610647 PMID:28492532 PMID:28847902 PMID:30303587 PMID:30311386 PMID:31445392 More...
|
|
NCBI chrNW_004936521:7,095,044...7,095,497
Ensembl chrNW_004936521:7,095,068...7,095,469
|
|
G |
LOC101969963 |
cadherin-23 |
|
ISO |
ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID | ClinVar Annotator: match by term: Usher syndrome type 1D |
OMIM ClinVar |
PMID:2289998 PMID:2706105 PMID:9536098 PMID:11090341 PMID:11138009 PMID:11857743 PMID:12075507 PMID:12522556 PMID:15353998 PMID:15537665 PMID:15660226 PMID:16199547 PMID:16281288 PMID:16679490 PMID:16963483 PMID:17407589 PMID:17576681 PMID:17850630 PMID:18273900 PMID:18323324 PMID:18348277 PMID:18368581 PMID:18429043 PMID:18484607 PMID:19375528 PMID:19683999 PMID:20146813 PMID:20513143 PMID:20613545 PMID:20844544 PMID:21078986 PMID:21174530 PMID:21228398 PMID:21436283 PMID:21569298 PMID:21940737 PMID:22135276 PMID:22443853 PMID:22607986 PMID:22899989 PMID:22995991 PMID:23208854 PMID:23451239 PMID:23591405 PMID:23757202 PMID:23794683 PMID:23804846 PMID:23967202 PMID:24033266 PMID:24164807 PMID:24416283 PMID:24444108 PMID:24498627 PMID:24618850 PMID:24767429 PMID:24875298 PMID:25231367 PMID:25262649 PMID:25279224 PMID:25333064 PMID:25356970 PMID:25404053 PMID:25425308 PMID:25468891 PMID:25472526 PMID:25474345 PMID:25525159 PMID:25587757 PMID:25605338 PMID:25741868 PMID:25788563 PMID:25963016 PMID:25991456 PMID:26226137 PMID:26264712 PMID:26346818 PMID:26399936 PMID:26445815 PMID:26467025 PMID:26633542 PMID:26763877 PMID:26969326 PMID:27018795 PMID:27068579 PMID:27349180 PMID:27460420 PMID:27583405 PMID:27610647 PMID:27627659 PMID:27743452 PMID:27792758 PMID:27884173 PMID:28383030 PMID:28483220 PMID:28492532 PMID:28501645 PMID:28847902 PMID:28912962 PMID:29048421 PMID:29148562 PMID:29343940 PMID:29986705 PMID:30029624 PMID:30033219 PMID:30123251 PMID:30245029 PMID:30303587 PMID:30311386 PMID:30367262 PMID:30459346 PMID:30718709 PMID:30733538 PMID:30774966 PMID:30828794 PMID:31054281 PMID:31152317 PMID:31231422 PMID:31445392 PMID:31541171 PMID:31546658 PMID:31872526 PMID:32467589 PMID:32747562 PMID:32991204 PMID:33095980 PMID:33576794 PMID:34416374 PMID:34824372 PMID:34906470 PMID:34906502 PMID:34948090 PMID:35020051 PMID:35186827 PMID:36011334 PMID:36460718 PMID:36672845 More...
|
|
NCBI chrNW_004936521:7,078,874...7,285,361
Ensembl chrNW_004936521:7,010,360...7,340,842
|
|
G |
Pcdh15 |
protocadherin related 15 |
|
ISO |
ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID | ClinVar Annotator: match by term: Usher syndrome type 1D |
OMIM ClinVar |
PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 PMID:15028842 PMID:15660226 PMID:16199547 PMID:16679490 PMID:17576681 PMID:18484607 PMID:18719945 PMID:19375528 PMID:20301442 PMID:21436283 PMID:21569298 PMID:22135276 PMID:22815625 PMID:22981120 PMID:23451239 PMID:23967202 PMID:24033266 PMID:24105371 PMID:24164807 PMID:24498627 PMID:24618850 PMID:24831256 PMID:25262649 PMID:25307757 PMID:25468891 PMID:25525159 PMID:25741868 PMID:25999675 PMID:26166082 PMID:26467025 PMID:26872967 PMID:27058588 PMID:27460420 PMID:27610647 PMID:27766948 PMID:28000701 PMID:28281779 PMID:28492532 PMID:28847902 PMID:29568747 PMID:29625443 PMID:30245029 PMID:30311386 PMID:30718709 PMID:34416374 More...
|
|
NCBI chrNW_004936910:233,800...602,145
Ensembl chrNW_004936910:141,917...602,089
|
|
G |
Psap |
prosaposin |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome type 1D |
ClinVar |
PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 PMID:25991456 PMID:28492532 More...
|
|
NCBI chrNW_004936521:6,975,844...7,009,460
Ensembl chrNW_004936521:6,975,770...7,009,136
|
|
|
G |
Pcdh15 |
protocadherin related 15 |
|
ISO |
ClinVar Annotator: match by term: USHER SYNDROME, TYPE IF | ClinVar Annotator: match by term: Usher syndrome type 1F |
OMIM ClinVar |
PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 PMID:15028842 PMID:15537665 PMID:15660226 PMID:16199547 PMID:16283880 PMID:16679490 PMID:16963483 PMID:17277737 PMID:17576681 PMID:18484607 PMID:18719945 PMID:19107147 PMID:19375528 PMID:19683999 PMID:20301442 PMID:20538994 PMID:20672374 PMID:21436283 PMID:21569298 PMID:22135276 PMID:22183965 PMID:22815625 PMID:22952768 PMID:22981120 PMID:23451239 PMID:23462753 PMID:23591405 PMID:23767834 PMID:23804846 PMID:23967202 PMID:24033266 PMID:24105371 PMID:24164807 PMID:24498627 PMID:24618850 PMID:24705292 PMID:24831256 PMID:24853665 PMID:24940003 PMID:25262649 PMID:25307757 PMID:25333064 PMID:25404053 PMID:25425308 PMID:25468891 PMID:25525159 PMID:25575603 PMID:25741868 PMID:26166082 PMID:26226137 PMID:26279247 PMID:26346818 PMID:26445815 PMID:26467025 PMID:26791358 PMID:26872967 PMID:26969326 PMID:27058588 PMID:27068579 PMID:27208204 PMID:27440999 PMID:27460420 PMID:27583663 PMID:27610647 PMID:27743452 PMID:27766948 PMID:27861356 PMID:28000701 PMID:28281779 PMID:28492532 PMID:28559085 PMID:28847902 PMID:28900111 PMID:28944237 PMID:28968992 PMID:28984810 PMID:29074561 PMID:29568747 PMID:29625443 PMID:30029624 PMID:30054919 PMID:30245029 PMID:30311386 PMID:30459346 PMID:30718709 PMID:31054281 PMID:32467589 PMID:33089500 PMID:33090715 PMID:33111345 PMID:33576794 PMID:33749171 PMID:34416374 PMID:34744965 PMID:34751129 PMID:35836572 PMID:36147510 More...
|
|
NCBI chrNW_004936910:233,800...602,145
Ensembl chrNW_004936910:141,917...602,089
|
|
|
G |
Pcdh15 |
protocadherin related 15 |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome type 1G |
ClinVar |
PMID:11398101 PMID:11487575 PMID:12588794 PMID:12711741 PMID:14570705 PMID:15028842 PMID:20301442 PMID:22815625 PMID:24033266 PMID:24105371 PMID:25262649 PMID:25307757 PMID:25525159 PMID:25741868 PMID:27460420 PMID:28492532 More...
|
|
NCBI chrNW_004936910:233,800...602,145
Ensembl chrNW_004936910:141,917...602,089
|
|
G |
Ush1g |
USH1 protein network component sans |
|
ISO |
ClinVar Annotator: match by term: USH1G-Related Disorders | ClinVar Annotator: match by term: USH1G-related condition | ClinVar Annotator: match by term: Usher syndrome type 1G |
OMIM ClinVar |
PMID:9536098 PMID:11941484 PMID:12588794 PMID:15660226 PMID:16283141 PMID:17576681 PMID:17896313 PMID:20142502 PMID:21044053 PMID:22135276 PMID:22219650 PMID:23591405 PMID:24033266 PMID:25255398 PMID:25741868 PMID:26467025 PMID:26878454 PMID:27068579 PMID:27353947 PMID:28224992 PMID:28492532 PMID:28944237 PMID:30245029 PMID:30303587 PMID:30311386 PMID:30828346 PMID:31637240 PMID:33095980 PMID:33946315 PMID:35802133 PMID:36633841 More...
|
|
NCBI chrNW_004936594:258,115...262,739
Ensembl chrNW_004936594:259,030...262,778
|
|
|
G |
Cib2 |
calcium and integrin binding family member 2 |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome type 1J |
OMIM ClinVar |
PMID:18505454 PMID:20301442 PMID:23023331 PMID:24033266 PMID:25741868 PMID:26173970 PMID:26226137 PMID:26445815 PMID:28492532 PMID:29112224 PMID:30303587 More...
|
|
NCBI chrNW_004936471:36,859,018...36,879,170
Ensembl chrNW_004936471:36,859,018...36,878,878
|
|
|
G |
Espn |
espin |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome, type 1M |
OMIM ClinVar |
PMID:15930085 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29572253 PMID:33297549 More...
|
|
NCBI chrNW_004936623:1,220,435...1,249,743
Ensembl chrNW_004936623:1,220,593...1,248,993
|
|
|
G |
Adgrv1 |
adhesion G protein-coupled receptor V1 |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome type 2 |
ClinVar |
PMID:16199547 PMID:19357117 PMID:22135276 PMID:22147658 PMID:24033266 PMID:24123792 PMID:25741868 PMID:26226137 PMID:28492532 PMID:29924869 PMID:30245029 PMID:30718709 PMID:31047384 PMID:31456290 PMID:31980526 PMID:32037395 PMID:32467589 More...
|
|
NCBI chrNW_004936469:8,653,031...9,209,840
|
|
G |
LOC101969963 |
cadherin-23 |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome type 2 |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936521:7,078,874...7,285,361
Ensembl chrNW_004936521:7,010,360...7,340,842
|
|
G |
Myo7a |
myosin VIIA |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome type 2 |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936498:5,758,572...5,824,526
Ensembl chrNW_004936498:5,751,779...5,824,378
|
|
G |
Ush1c |
USH1 protein network component harmonin |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome type 2 |
ClinVar |
PMID:10973247 PMID:16199547 PMID:17407589 PMID:20301442 PMID:21203349 PMID:25741868 PMID:27460420 PMID:28492532 PMID:30311386 PMID:32531858 More...
|
|
NCBI chrNW_004936528:1,552,175...1,594,740
Ensembl chrNW_004936528:1,552,289...1,594,801
|
|
G |
Ush2a |
usherin |
susceptibility |
ISO |
DNA:frameshift mutations, missense mutations, nonsense mutation:exon:multiple (human) ClinVar Annotator: match by term: Usher syndrome type 2 DNA:mutations:multiple (human) DNA:insertion, deletions, snps:multiple (human) DNA:snp:intron:c.7595-2144A>G (human) |
RGD ClinVar |
PMID:2564938 PMID:9536098 PMID:10729113 PMID:10738000 PMID:10909849 PMID:11311042 PMID:12525556 PMID:15015129 PMID:15025721 PMID:15043528 PMID:15241801 PMID:15325563 PMID:15823922 PMID:16199547 PMID:16963483 PMID:17296898 PMID:17405132 PMID:17576681 PMID:18273898 PMID:18452394 PMID:18463160 PMID:18641288 PMID:18665195 PMID:19683999 PMID:19881469 PMID:20052763 PMID:20497194 PMID:20507924 PMID:20513143 PMID:21487335 PMID:21569298 PMID:21686329 PMID:21738395 PMID:22004887 PMID:22009552 PMID:22135276 PMID:23591405 PMID:23924366 PMID:24033266 PMID:24367894 PMID:24498627 PMID:24875298 PMID:24938718 PMID:24944099 PMID:25078356 PMID:25097241 PMID:25133613 PMID:25211151 PMID:25262649 PMID:25324289 PMID:25333064 PMID:25356976 PMID:25404053 PMID:25525159 PMID:25558175 PMID:25575603 PMID:25649381 PMID:25741868 PMID:26310143 PMID:26338283 PMID:26355662 PMID:26629787 PMID:26927203 PMID:27032803 PMID:27160483 PMID:27318125 PMID:27344577 PMID:27460420 PMID:27596865 PMID:28041643 PMID:28130426 PMID:28157192 PMID:28492532 PMID:28559085 PMID:28653555 PMID:28894305 PMID:28944237 PMID:28981474 PMID:29074561 PMID:29142287 PMID:29293505 PMID:29490346 PMID:29625443 PMID:29899460 PMID:29986705 PMID:30190494 PMID:30245029 PMID:30311386 PMID:30459346 PMID:30718709 PMID:30948794 PMID:31213501 PMID:31231422 PMID:31456290 PMID:31589614 PMID:31817543 PMID:32036094 PMID:32037395 PMID:32176120 PMID:32531858 PMID:32552793 PMID:32637036 PMID:32893482 PMID:33576794 PMID:34426522 PMID:34906470 PMID:35076463 PMID:35266249 PMID:36314366 PMID:37287646 More...
|
RGD:8547952 RGD:8547962 RGD:8547965 RGD:8547985 |
NCBI chrNW_004936628:2,123,917...2,859,958
Ensembl chrNW_004936628:2,123,957...2,858,872
|
|
|
G |
Adgrv1 |
adhesion G protein-coupled receptor V1 |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome type 2A |
ClinVar |
|
|
NCBI chrNW_004936469:8,653,031...9,209,840
|
|
G |
Kctd3 |
potassium channel tetramerization domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome type 2A |
ClinVar |
PMID:21681106 |
|
NCBI chrNW_004936628:2,862,536...2,912,784
Ensembl chrNW_004936628:2,862,617...2,912,790
|
|
G |
LOC101969963 |
cadherin-23 |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome type 2A |
ClinVar |
PMID:2706105 PMID:12075507 PMID:12522556 PMID:15353998 PMID:21940737 PMID:24033266 PMID:25741868 PMID:27460420 PMID:28492532 More...
|
|
NCBI chrNW_004936521:7,078,874...7,285,361
Ensembl chrNW_004936521:7,010,360...7,340,842
|
|
G |
Pdzd7 |
PDZ domain containing 7 |
|
ISO |
ClinVar Annotator: match by term: USHER SYNDROME, TYPE IIA | ClinVar Annotator: match by term: Usher syndrome type 2A |
OMIM ClinVar |
PMID:20440071 PMID:25741868 PMID:26849169 PMID:28492532 PMID:29048736 |
|
NCBI chrNW_004936600:4,660,211...4,678,911
Ensembl chrNW_004936600:4,661,332...4,678,107
|
|
G |
Sftpc |
surfactant protein C |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome type 2A |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936555:5,966,610...5,982,083
Ensembl chrNW_004936555:5,979,417...5,982,011
|
|
G |
Ush2a |
usherin |
susceptibility |
ISO |
ClinVar Annotator: match by term: USH2A-related condition | ClinVar Annotator: match by term: Usher syndrome type 2A ClinVar Annotator: match by term: USHER SYNDROME, TYPE IIA | ClinVar Annotator: match by term: Usher syndrome type 2A DNA:frameshift mutations:cds:c.2314delG, c.2913delG, c.4353-4354delCT (human) DNA:mutations:multiple (human) |
OMIM ClinVar RGD |
PMID:1968399 PMID:2525289 PMID:2564938 PMID:9536098 PMID:9624053 PMID:10090909 PMID:10729113 PMID:10738000 PMID:10775529 PMID:10909849 PMID:11311042 PMID:11402400 PMID:12112664 PMID:12427073 PMID:12525556 PMID:12786748 PMID:14676276 PMID:14970843 PMID:15015129 PMID:15025721 PMID:15043528 PMID:15241801 PMID:15325563 PMID:15326663 PMID:15671307 PMID:15823922 PMID:16098008 PMID:16114888 PMID:16199547 PMID:16963483 PMID:17085681 PMID:17296898 PMID:17405132 PMID:17576681 PMID:18273898 PMID:18281613 PMID:18452394 PMID:18463160 PMID:18484607 PMID:18641288 PMID:18665192 PMID:18665195 PMID:18723146 PMID:19023448 PMID:19129697 PMID:19683999 PMID:19737284 PMID:19788668 PMID:19881469 PMID:20052763 PMID:20145675 PMID:20301442 PMID:20301515 PMID:20309401 PMID:20440071 PMID:20497194 PMID:20507924 PMID:20513143 PMID:20544672 PMID:20591486 PMID:20596040 PMID:20613545 PMID:20801516 PMID:21147909 PMID:21151602 PMID:21228398 PMID:21487335 PMID:21569298 PMID:21593743 PMID:21681106 PMID:21686329 PMID:21738395 PMID:21909055 PMID:22004887 PMID:22009552 PMID:22025579 PMID:22135276 PMID:22334370 PMID:22563300 PMID:22581970 PMID:22681893 PMID:22952768 PMID:23029027 PMID:23352160 PMID:23591405 PMID:23661368 PMID:23661369 PMID:23737954 PMID:23755871 PMID:23767834 PMID:23804846 PMID:23924366 PMID:23940504 PMID:23967202 PMID:23991284 PMID:24033266 PMID:24043777 PMID:24088041 PMID:24154662 PMID:24160897 PMID:24164807 PMID:24227914 PMID:24265693 PMID:24367894 PMID:24498627 PMID:24516651 PMID:24603341 PMID:24607488 PMID:24618324 PMID:24625443 PMID:24853665 PMID:24875298 PMID:24901346 PMID:24938718 PMID:24944099 PMID:25078356 PMID:25097241 PMID:25133613 PMID:25133751 PMID:25211151 PMID:25252889 PMID:25261458 PMID:25262649 PMID:25268133 PMID:25324289 PMID:25326637 PMID:25333064 PMID:25342620 PMID:25356976 PMID:25366773 PMID:25373420 PMID:25375654 PMID:25388789 PMID:25404053 PMID:25412400 PMID:25425308 PMID:25445212 PMID:25468891 PMID:25472526 PMID:25474345 PMID:25521520 PMID:25525159 PMID:25558175 PMID:25575603 PMID:25649381 PMID:25741868 PMID:25804404 PMID:25823529 PMID:25910913 PMID:25991456 PMID:25999674 PMID:26075083 PMID:26164827 PMID:26261414 PMID:26306921 PMID:26310143 PMID:26338283 PMID:26346818 PMID:26352687 PMID:26355662 PMID:26377068 PMID:26416264 PMID:26467025 PMID:26496393 PMID:26629787 PMID:26633545 PMID:26654877 PMID:26667666 PMID:26747767 PMID:26764160 PMID:26766544 PMID:26806561 PMID:26856745 PMID:26868535 PMID:26872967 PMID:26927203 PMID:26969326 PMID:26992781 PMID:27032803 PMID:27057829 PMID:27145477 PMID:27157150 PMID:27160483 PMID:27208204 PMID:27318125 PMID:27344577 PMID:27353947 PMID:27460420 PMID:27583663 PMID:27596865 PMID:27624628 PMID:27884173 PMID:27957503 PMID:28000701 PMID:28005958 PMID:28041643 PMID:28118666 PMID:28127548 PMID:28130426 PMID:28157192 PMID:28181551 PMID:28224992 PMID:28281779 PMID:28430325 PMID:28492532 PMID:28512305 PMID:28559085 PMID:28653555 PMID:28678594 PMID:28704108 PMID:28714225 PMID:28761320 PMID:28798898 PMID:28838317 PMID:28894305 PMID:28912962 PMID:28944237 PMID:28945494 PMID:28981474 PMID:28984810 PMID:29068140 PMID:29074561 PMID:29099798 PMID:29142287 PMID:29151245 PMID:29178603 PMID:29196752 PMID:29276052 PMID:29283788 PMID:29293505 PMID:29343940 PMID:29490346 PMID:29551606 PMID:29588463 PMID:29625443 PMID:29641573 PMID:29655801 PMID:29767709 PMID:29899460 PMID:29912909 PMID:29953849 PMID:29986705 PMID:30029497 PMID:30073356 PMID:30081015 PMID:30190494 PMID:30245029 PMID:30280194 PMID:30311386 PMID:30337596 PMID:30358468 PMID:30390381 PMID:30459346 PMID:30543658 PMID:30691450 PMID:30718709 PMID:30733538 PMID:30796641 PMID:30826590 PMID:30870047 PMID:30872814 PMID:30902645 PMID:30924848 PMID:30948794 PMID:31031587 PMID:31047384 PMID:31054281 PMID:31106028 PMID:31144483 PMID:31152317 PMID:31213501 PMID:31231422 PMID:31266775 PMID:31370859 PMID:31429209 PMID:31456290 PMID:31541171 PMID:31589614 PMID:31674169 PMID:31699113 PMID:31736247 PMID:31816670 PMID:31817543 PMID:31827275 PMID:31836858 PMID:31872526 PMID:31877679 PMID:31904091 PMID:31960602 PMID:31998945 PMID:32036094 PMID:32037395 PMID:32050993 PMID:32090030 PMID:32093671 PMID:32098976 PMID:32100970 PMID:32176120 PMID:32188678 PMID:32319668 PMID:32467589 PMID:32531858 PMID:32552793 PMID:32579692 PMID:32581362 PMID:32637036 PMID:32646269 PMID:32675063 PMID:32707200 PMID:32747562 PMID:32767731 PMID:32893482 PMID:33089500 PMID:33090715 PMID:33105608 PMID:33111345 PMID:33111992 PMID:33124170 PMID:33269433 PMID:33297549 PMID:33576794 PMID:33623043 PMID:33629268 PMID:33691693 PMID:33749171 PMID:33781268 PMID:33926394 PMID:33946315 PMID:34008892 PMID:34031601 PMID:34130719 PMID:34148116 PMID:34203883 PMID:34203967 PMID:34327195 PMID:34416374 PMID:34426522 PMID:34448047 PMID:34599368 PMID:34638692 PMID:34721897 PMID:34781295 PMID:34837038 PMID:34906470 PMID:34948090 PMID:35076463 PMID:35106950 PMID:35114279 PMID:35266249 PMID:35672425 PMID:35802133 PMID:35836572 PMID:36011334 PMID:36284460 PMID:36314366 PMID:36362125 PMID:36460718 PMID:36633841 PMID:36785559 PMID:36819107 PMID:36909829 PMID:37322672 More...
|
RGD:8547961 RGD:8547987 |
NCBI chrNW_004936628:2,123,917...2,859,958
Ensembl chrNW_004936628:2,123,957...2,858,872
|
|
|
G |
Adgrv1 |
adhesion G protein-coupled receptor V1 |
|
ISO |
ClinVar Annotator: match by term: ADGRV1-related condition | ClinVar Annotator: match by term: Usher syndrome type 2C | ClinVar Annotator: match by term: Usher syndrome, type IIC, GPR98/PDZD7 digenic |
OMIM ClinVar |
PMID:9536098 PMID:10234513 PMID:14740321 PMID:15671307 PMID:16199547 PMID:17576681 PMID:18414213 PMID:18854872 PMID:19357116 PMID:19357117 PMID:20440071 PMID:21569298 PMID:21946352 PMID:22135276 PMID:22147658 PMID:22334370 PMID:22952768 PMID:23441107 PMID:23767834 PMID:23934111 PMID:23967202 PMID:24033266 PMID:24123792 PMID:24154662 PMID:24498627 PMID:25133751 PMID:25262649 PMID:25324289 PMID:25333064 PMID:25404053 PMID:25412400 PMID:25468891 PMID:25741868 PMID:25741869 PMID:26164827 PMID:26226137 PMID:26338283 PMID:26346818 PMID:26467025 PMID:26667666 PMID:26872967 PMID:26969326 PMID:27068579 PMID:27108799 PMID:27460420 PMID:27575413 PMID:27884173 PMID:28041643 PMID:28492532 PMID:29142287 PMID:29179779 PMID:29261713 PMID:29907799 PMID:30029497 PMID:30180840 PMID:30245029 PMID:30311386 PMID:30718709 PMID:31046701 PMID:31047384 PMID:32037395 PMID:32420686 PMID:32467589 PMID:32707200 PMID:32747562 PMID:32860008 PMID:32962041 PMID:33089500 PMID:33105617 PMID:33247286 PMID:34997062 PMID:35802133 PMID:35813073 PMID:36633841 PMID:38177409 More...
|
|
NCBI chrNW_004936469:8,653,031...9,209,840
|
|
G |
Cnksr1 |
connector enhancer of kinase suppressor of Ras 1 |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome type 2C |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936474:10,697,777...10,706,988
Ensembl chrNW_004936474:10,699,819...10,706,591
|
|
G |
Fras1 |
Fraser extracellular matrix complex subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome type 2C |
ClinVar |
PMID:21900877 PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936676:1,870,856...2,138,832
Ensembl chrNW_004936676:1,870,814...2,135,823
|
|
G |
Pdzd7 |
PDZ domain containing 7 |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome type 2C | ClinVar Annotator: match by term: Usher syndrome, type IIC, GPR98/PDZD7 digenic |
OMIM ClinVar |
PMID:20440071 PMID:24033266 PMID:25741868 PMID:26416264 PMID:26467025 PMID:26849169 PMID:28492532 PMID:32050993 More...
|
|
NCBI chrNW_004936600:4,660,211...4,678,911
Ensembl chrNW_004936600:4,661,332...4,678,107
|
|
G |
Slc4a7 |
solute carrier family 4 member 7 |
|
ISO |
OMIM:605472 |
MouseDO |
|
|
NCBI chrNW_004936473:18,550,489...18,645,470
Ensembl chrNW_004936473:18,550,484...18,645,628
|
|
G |
Wdr36 |
WD repeat domain 36 |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome type 2C |
ClinVar |
PMID:15677485 PMID:18172102 PMID:19150991 PMID:22995991 PMID:25333069 PMID:25741868 PMID:28492532 More...
|
|
NCBI chrNW_004936531:5,513,082...5,546,515
Ensembl chrNW_004936531:5,513,082...5,548,501
|
|
|
G |
Whrn |
whirlin |
|
ISO |
ClinVar Annotator: match by term: USHER SYNDROME, TYPE IID | ClinVar Annotator: match by term: Usher syndrome type 2D |
OMIM ClinVar |
PMID:9536098 PMID:12833159 PMID:15841483 PMID:17171570 PMID:17576681 PMID:20352026 PMID:21569298 PMID:21654738 PMID:22135276 PMID:22147658 PMID:23804846 PMID:24033266 PMID:25262649 PMID:25404053 PMID:25468891 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30245029 PMID:30311386 PMID:35114279 More...
|
|
NCBI chrNW_004936487:3,668,465...3,748,234
Ensembl chrNW_004936487:3,669,104...3,748,238
|
|
|
G |
Clrn1 |
clarin 1 |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome type 3 |
ClinVar |
PMID:7407589 PMID:9536098 PMID:11524702 PMID:12080385 PMID:12145752 PMID:14569126 PMID:15521980 PMID:16028794 PMID:17407589 PMID:17576681 PMID:17893653 PMID:18281613 PMID:19423712 PMID:19753315 PMID:20717163 PMID:21675857 PMID:22135276 PMID:22681893 PMID:22787034 PMID:22952768 PMID:23304067 PMID:24033266 PMID:24498627 PMID:24596593 PMID:25268133 PMID:25741868 PMID:25743179 PMID:26180195 PMID:26338283 PMID:27460420 PMID:27610647 PMID:28041643 PMID:28224992 PMID:28471114 PMID:28492532 PMID:29545425 PMID:30311386 PMID:31097578 PMID:31213501 PMID:31836858 PMID:31960602 PMID:31963381 PMID:34906470 PMID:35481838 More...
|
|
NCBI chrNW_004936758:1,250,831...1,286,016
Ensembl chrNW_004936758:1,250,769...1,285,376
|
|
G |
Hars1 |
histidyl-tRNA synthetase 1 |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome type 3 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936531:9,610,335...9,625,203
Ensembl chrNW_004936531:9,610,306...9,625,551
|
|
|
G |
Clrn1 |
clarin 1 |
|
ISO |
ClinVar Annotator: match by term: USHER SYNDROME, TYPE IIIA | ClinVar Annotator: match by term: Usher syndrome type 3A |
OMIM ClinVar |
PMID:7407589 PMID:11524702 PMID:12080385 PMID:12145752 PMID:14569126 PMID:15521980 PMID:16028794 PMID:17407589 PMID:17893653 PMID:18281613 PMID:19423712 PMID:19753315 PMID:21310491 PMID:22135276 PMID:22681893 PMID:22787034 PMID:22952768 PMID:23304067 PMID:24033266 PMID:24498627 PMID:24596593 PMID:25268133 PMID:25741868 PMID:25743179 PMID:26180195 PMID:26338283 PMID:26467025 PMID:27460420 PMID:27610647 PMID:28041643 PMID:28224992 PMID:28471114 PMID:28492532 PMID:29545425 PMID:30311386 PMID:31097578 PMID:31213501 PMID:31836858 PMID:31960602 PMID:31963381 PMID:34906470 PMID:35481838 More...
|
|
NCBI chrNW_004936758:1,250,831...1,286,016
Ensembl chrNW_004936758:1,250,769...1,285,376
|
|
G |
Ush2a |
usherin |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome type 3A |
ClinVar |
PMID:2564938 PMID:10729113 PMID:10909849 PMID:15015129 PMID:16963483 PMID:18273898 PMID:18463160 PMID:18641288 PMID:19683999 PMID:19881469 PMID:20507924 PMID:21569298 PMID:22135276 PMID:24033266 PMID:25262649 PMID:25333064 PMID:25575603 PMID:25649381 PMID:25741868 PMID:26927203 PMID:27460420 PMID:28041643 PMID:28492532 PMID:28944237 PMID:29293505 PMID:30718709 PMID:31817543 PMID:34906470 More...
|
|
NCBI chrNW_004936628:2,123,917...2,859,958
Ensembl chrNW_004936628:2,123,957...2,858,872
|
|
|
G |
Dnd1 |
DND microRNA-mediated repression inhibitor 1 |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome type 3B |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936531:9,607,678...9,610,245
Ensembl chrNW_004936531:9,607,906...9,609,965
|
|
G |
Hars1 |
histidyl-tRNA synthetase 1 |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome type 3B |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22279524 PMID:22279824 PMID:22930593 PMID:24033266 PMID:25640679 PMID:25741868 PMID:26072516 PMID:26752306 PMID:27353947 PMID:28492532 PMID:28632987 PMID:29235198 PMID:29790872 PMID:31028937 PMID:31211171 PMID:32333447 PMID:32543048 PMID:34445196 PMID:34813128 More...
|
|
NCBI chrNW_004936531:9,610,335...9,625,203
Ensembl chrNW_004936531:9,610,306...9,625,551
|
|
G |
Hars2 |
histidyl-tRNA synthetase 2, mitochondrial |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome type 3B |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936531:9,625,206...9,633,463
Ensembl chrNW_004936531:9,624,927...9,632,611
|
|
|
G |
Arsg |
arylsulfatase G |
|
ISO |
ClinVar Annotator: match by term: ARSG-related condition | ClinVar Annotator: match by term: Usher syndrome, type 4 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:29300381 PMID:32455177 PMID:33300174 PMID:33629623 PMID:34223797 PMID:35226187 PMID:36317447 More...
|
|
NCBI chrNW_004936541:7,664,241...7,782,762
Ensembl chrNW_004936541:7,703,214...7,782,799
|
|
G |
Prkar1a |
protein kinase cAMP-dependent type I regulatory subunit alpha |
|
ISO |
ClinVar Annotator: match by term: ARSG-related condition | ClinVar Annotator: match by term: Usher syndrome, type 4 |
ClinVar |
PMID:25741868 PMID:28492532 PMID:33300174 PMID:35226187 PMID:36317447 |
|
NCBI chrNW_004936541:7,845,876...7,863,677
Ensembl chrNW_004936541:7,845,676...7,863,709
|
|
|
G |
Adgrv1 |
adhesion G protein-coupled receptor V1 |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome, type 2B |
ClinVar |
PMID:14740321 PMID:15671307 PMID:19357117 PMID:22135276 PMID:22147658 PMID:24033266 PMID:25333064 PMID:25741868 PMID:26164827 PMID:26226137 PMID:26338283 PMID:27460420 PMID:27575413 PMID:28041643 PMID:28492532 PMID:30311386 PMID:30718709 PMID:31047384 PMID:32467589 More...
|
|
NCBI chrNW_004936469:8,653,031...9,209,840
|
|
G |
Pdzd7 |
PDZ domain containing 7 |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome, type 2B |
ClinVar |
PMID:20440071 PMID:24033266 PMID:25741868 PMID:26416264 PMID:26849169 PMID:28492532 PMID:32050993 More...
|
|
NCBI chrNW_004936600:4,660,211...4,678,911
Ensembl chrNW_004936600:4,661,332...4,678,107
|
|
|
G |
LOC101969963 |
cadherin-23 |
|
ISO |
ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID/F, DIGENIC |
ClinVar |
PMID:11138009 PMID:12075507 PMID:15537665 PMID:15660226 PMID:21940737 PMID:24033266 PMID:25741868 PMID:28492532 More...
|
|
NCBI chrNW_004936521:7,078,874...7,285,361
Ensembl chrNW_004936521:7,010,360...7,340,842
|
|
G |
Pcdh15 |
protocadherin related 15 |
|
ISO |
ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID/F, DIGENIC |
ClinVar |
PMID:15537665 PMID:15660226 PMID:24033266 |
|
NCBI chrNW_004936910:233,800...602,145
Ensembl chrNW_004936910:141,917...602,089
|
|
|
G |
Pbx3 |
PBX homeobox 3 |
|
ISO |
ClinVar Annotator: match by term: X-linked cone-rod dystrophy |
ClinVar |
|
|
NCBI chrNW_004936487:13,779,999...13,986,617
Ensembl chrNW_004936487:13,779,454...13,987,722
|
|
G |
Rpgr |
retinitis pigmentosa GTPase regulator |
|
ISO |
ClinVar Annotator: match by term: X-linked cone-rod dystrophy | ClinVar Annotator: match by term: X-linked cone-rod dystrophy 1 |
OMIM ClinVar |
PMID:8673101 PMID:10482958 PMID:10937588 PMID:11857109 PMID:11875055 PMID:12657579 PMID:15914600 PMID:16055928 PMID:16199547 PMID:16969763 PMID:18332319 PMID:22264887 PMID:23150612 PMID:24033266 PMID:25741868 PMID:26197217 PMID:28492532 PMID:29785639 PMID:31630094 PMID:31645972 PMID:31804667 PMID:32856788 PMID:34906470 PMID:35432464 More...
|
|
NCBI chrNW_004936502:5,163,164...5,212,940
|
|
|
G |
Cacna1f |
calcium voltage-gated channel subunit alpha1 F |
|
ISO |
ClinVar Annotator: match by term: X-linked cone-rod dystrophy 3 |
OMIM ClinVar |
PMID:9662399 PMID:11281458 PMID:15897456 PMID:16199547 PMID:17525176 PMID:22183355 PMID:22194652 PMID:23776498 PMID:24124559 PMID:25307992 PMID:25741868 PMID:26992781 PMID:28492532 PMID:28838317 PMID:29127258 PMID:29854783 PMID:30718709 PMID:30825406 PMID:31651202 More...
|
|
NCBI chrNW_004936721:1,078,570...1,106,153
Ensembl chrNW_004936721:1,078,650...1,106,113
|
|
|
G |
Rpgr |
retinitis pigmentosa GTPase regulator |
|
ISO |
ClinVar Annotator: match by term: RETINITIS PIGMENTOSA, SINORESPIRATORY INFECTIONS, AND DEAFNESS | ClinVar Annotator: match by term: Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness |
OMIM ClinVar |
PMID:1733835 PMID:8673101 PMID:10094550 PMID:14627685 PMID:16055928 PMID:25741868 More...
|
|
NCBI chrNW_004936502:5,163,164...5,212,940
|
|