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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:cone dystrophy
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Accession:DOID:0050795 term browser browse the term
Definition:A retinal disease that is characterized by the loss of cone cells, the photoreceptors responsible for both central and color vision. (DO)
Synonyms:exact_synonym: retinal cone dystrophy
 primary_id: MESH:D000077765
 xref: GARD:11897


show annotations for term's descendants           Sort by:
cone dystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP binding cassette subfamily A member 4 ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:9054934 PMID:9973280 PMID:10880298 PMID:10958761 PMID:16103129 More... NCBI chr 2:210,164,813...210,302,069
Ensembl chr 2:210,164,813...210,302,069 		JBrowse link
G Abhd12 abhydrolase domain containing 12, lysophospholipase ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:24697911 NCBI chr 3:139,659,315...139,719,529
Ensembl chr 3:139,659,317...139,719,564 		JBrowse link
G Bbs5 Bardet-Biedl syndrome 5 ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:9536098 PMID:15137946 PMID:17576681 PMID:20498079 PMID:25741868 More... NCBI chr 3:54,410,429...54,431,831
Ensembl chr 3:54,410,775...54,431,829 		JBrowse link
G Cabp4 calcium binding protein 4 ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:25307992 PMID:25741868 PMID:28041643 PMID:28341476 PMID:28492532 More... NCBI chr 1:201,428,671...201,442,950
Ensembl chr 1:201,428,672...201,433,172 		JBrowse link
G Cacna2d4 calcium voltage-gated channel auxiliary subunit alpha2delta 4 ISO ClinVar Annotator: match by term: Cone dystrophy | ClinVar Annotator: match by term: RETINAL CONE DYSTROPHY ClinVar PMID:28041643 PMID:28492532 PMID:30718709 NCBI chr 4:152,408,588...152,521,478
Ensembl chr 4:152,408,657...152,521,268 		JBrowse link
G Cdhr1 cadherin-related family member 1 ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:25741868 PMID:26766544 PMID:28041643 PMID:28492532 PMID:28765526 More... NCBI chr16:12,843,436...12,863,321
Ensembl chr16:12,843,437...12,863,396 		JBrowse link
G Cerkl CERK like autophagy regulator ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:14681825 PMID:15708351 PMID:16199547 PMID:19578027 PMID:21151602 More... NCBI chr 3:64,238,714...64,344,695
Ensembl chr 3:64,237,522...64,340,675 		JBrowse link
G Cfap410 cilia and flagella associated protein 410 ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:25741868 PMID:26167768 PMID:26974433 PMID:27596865 PMID:28041643 More... NCBI chr20:10,687,863...10,694,736
Ensembl chr20:10,687,863...10,694,737 		JBrowse link
G Cnga3 cyclic nucleotide gated channel subunit alpha 3 ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:18521937 PMID:25741868 PMID:26493561 PMID:28041643 PMID:28492532 More... NCBI chr 9:39,447,534...39,494,044
Ensembl chr 9:39,448,034...39,493,183 		JBrowse link
G Crb1 crumbs cell polarity complex component 1 ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:10508521 PMID:11231775 PMID:17128490 PMID:17297678 PMID:18055816 More... NCBI chr13:50,801,484...50,989,261
Ensembl chr13:50,800,959...50,989,261 		JBrowse link
G Gnat2 G protein subunit alpha transducin 2 ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:25741868 PMID:28492532 PMID:31058429 NCBI chr 2:195,726,371...195,735,866
Ensembl chr 2:195,726,762...195,735,866 		JBrowse link
G Guca1a guanylate cyclase activator 1A ISO ClinVar Annotator: match by term: Cone dystrophy | ClinVar Annotator: match by term: RETINAL CONE DYSTROPHY ClinVar PMID:15505030 PMID:25741868 PMID:28492532 NCBI chr 9:13,588,988...13,598,566
Ensembl chr 9:13,588,525...13,598,565 		JBrowse link
G Guca1b guanylate cyclase activator 1B ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:15505030 PMID:25741868 PMID:28492532 NCBI chr 9:13,599,619...13,607,455
Ensembl chr 9:13,599,619...13,607,455 		JBrowse link
G Gucy2e guanylate cyclase 2E ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:8554074 PMID:9618177 PMID:10676808 PMID:10951519 PMID:11115851 More... NCBI chr10:53,954,918...53,975,576
Ensembl chr10:53,959,010...53,974,067 		JBrowse link
G Kcnv2 potassium voltage-gated channel modifier subfamily V member 2 ISO ClinVar Annotator: match by term: Cone dystrophy | ClinVar Annotator: match by term: RETINAL CONE DYSTROPHY ClinVar PMID:16909397 PMID:17896311 PMID:18235024 PMID:21882291 PMID:23885164 More... NCBI chr 1:224,999,552...225,014,062
Ensembl chr 1:224,999,552...225,014,062 		JBrowse link
G Mall mal, T-cell differentiation protein-like ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:28041643 NCBI chr 3:114,927,897...114,950,840
Ensembl chr 3:114,927,897...114,950,785 		JBrowse link
G Mtln mitoregulin ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:28041643 NCBI chr 3:115,018,810...115,019,668
Ensembl chr 3:115,019,473...115,019,643
Ensembl chr 3:115,019,473...115,019,643 		JBrowse link
G Nmnat1 nicotinamide nucleotide adenylyltransferase 1 ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:29184169 NCBI chr 5:159,910,242...159,928,201
Ensembl chr 5:159,910,242...159,928,180 		JBrowse link
G Nphp1 nephrocystin 1 ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:28041643 NCBI chr 3:114,960,650...115,016,234
Ensembl chr 3:114,960,650...115,016,234 		JBrowse link
G Pde6c phosphodiesterase 6C ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:25741868 PMID:36909829 NCBI chr 1:235,909,583...235,965,435
Ensembl chr 1:235,909,775...235,965,315 		JBrowse link
G Pitpnm3 PITPNM family member 3 ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:25741868 NCBI chr10:56,674,697...56,766,552
Ensembl chr10:56,676,261...56,766,584 		JBrowse link
G Prph2 peripherin 2 ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:8644804 PMID:11139263 PMID:11801511 PMID:17653047 PMID:19038374 More... NCBI chr 9:14,066,149...14,081,454
Ensembl chr 9:14,066,156...14,081,454 		JBrowse link
G Rab28 RAB28, member RAS oncogene family ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:25741868 PMID:36909829 NCBI chr14:69,245,846...69,322,968
Ensembl chr14:69,245,854...69,322,967 		JBrowse link
G Rgr retinal G protein coupled receptor ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:10581022 PMID:25741868 PMID:27623334 PMID:28492532 PMID:30337596 More... NCBI chr16:12,801,594...12,816,402
Ensembl chr16:12,801,594...12,816,223 		JBrowse link
G Rpgr retinitis pigmentosa GTPase regulator ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:11857109 PMID:11875055 PMID:22264887 PMID:25741868 PMID:28492532 More... NCBI chr  X:12,566,447...12,628,171
Ensembl chr  X:12,566,645...12,747,882 		JBrowse link
G Rpgrip1 RPGR interacting protein 1 ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr15:24,814,576...24,867,522
Ensembl chr15:24,814,614...24,868,605 		JBrowse link
G Sag S-antigen visual arrestin ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr 9:88,467,797...88,508,821
Ensembl chr 9:88,469,376...88,508,820 		JBrowse link
G Srd5a3 steroid 5 alpha-reductase 3 ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:20637498 PMID:20700148 PMID:20852264 PMID:22304929 PMID:24433453 More... NCBI chr14:32,046,408...32,060,796
Ensembl chr14:32,046,408...32,060,747 		JBrowse link
G Wdr19 WD repeat domain 19 ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:22019273 PMID:23559409 PMID:23683095 PMID:25741868 PMID:26275793 More... NCBI chr14:43,042,474...43,106,337
Ensembl chr14:43,042,478...43,106,288 		JBrowse link
G Yap1 Yes1 associated transcriptional regulator ISS OMIM:180020 | OMIM:610024 | OMIM:610356 | OMIM:610478 | OMIM:613093 MouseDO NCBI chr 8:5,095,705...5,166,808
Ensembl chr 8:5,095,722...5,167,010 		JBrowse link
Chromosome 16q12 Duplication Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aars1 alanyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:38,999,130...39,021,152
Ensembl chr19:38,999,163...39,021,147 		JBrowse link
G Acd ACD, shelterin complex subunit and telomerase recruitment factor ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:33,586,739...33,589,481
Ensembl chr19:33,586,745...33,589,461 		JBrowse link
G Adcy7 adenylate cyclase 7 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:18,740,875...18,798,924
Ensembl chr19:18,740,875...18,776,311 		JBrowse link
G Adgrg1 adhesion G protein-coupled receptor G1 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:10,003,963...10,041,122
Ensembl chr19:10,003,975...10,041,108 		JBrowse link
G Adgrg3 adhesion G protein-coupled receptor G3 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:9,972,425...10,001,118
Ensembl chr19:9,972,430...10,001,123 		JBrowse link
G Adgrg5 adhesion G protein-coupled receptor G5 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:10,074,787...10,098,640
Ensembl chr19:10,079,375...10,097,214 		JBrowse link
G Agrp agouti related neuropeptide ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:33,447,992...33,481,602
Ensembl chr19:33,447,992...33,449,584 		JBrowse link
G Aktip AKT interacting protein ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:15,866,811...15,877,123
Ensembl chr19:15,866,928...15,886,663 		JBrowse link
G Amfr autocrine motility factor receptor ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:10,996,705...11,032,260
Ensembl chr19:10,996,099...11,032,247 		JBrowse link
G Arl2bp ARF like GTPase 2 binding protein ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:10,336,921...10,346,555
Ensembl chr19:10,336,921...10,346,564 		JBrowse link
G Atp6v0d1 ATPase H+ transporting V0 subunit D1 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:33,403,352...33,447,357
Ensembl chr19:33,403,355...33,447,450 		JBrowse link
G B3gnt9 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 9 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:33,129,740...33,134,048
Ensembl chr19:33,128,142...33,132,344 		JBrowse link
G Bbs2 Bardet-Biedl syndrome 2 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:10,909,653...10,944,998
Ensembl chr19:10,909,619...10,944,993 		JBrowse link
G Bean1 brain expressed, associated with NEDD4, 1 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:739,551...786,395
Ensembl chr19:739,551...787,537 		JBrowse link
G Brd7 bromodomain containing 7 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:18,708,792...18,737,497
Ensembl chr19:18,709,022...18,737,494 		JBrowse link
G C19h16orf78 similar to human chromosome 16 open reading frame 78 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:19,484,248...19,509,632
Ensembl chr19:19,483,882...19,509,469 		JBrowse link
G C19h16orf86 similar to human chromosome 16 open reading frame 86 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:33,596,591...33,598,703
Ensembl chr19:33,595,995...33,598,521 		JBrowse link
G Capns2 calpain, small subunit 2 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:14,104,334...14,105,276 JBrowse link
G Car7 carbonic anhydrase 7 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:429,063...438,478
Ensembl chr19:429,075...438,467 		JBrowse link
G Carmil2 capping protein regulator and myosin 1 linker 2 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:33,571,255...33,586,783
Ensembl chr19:33,574,257...33,586,965 		JBrowse link
G Cbfb core-binding factor subunit beta ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:33,049,162...33,092,752
Ensembl chr19:33,049,172...33,092,751 		JBrowse link
G Cbln1 cerebellin 1 precursor ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:19,608,763...19,612,572
Ensembl chr19:19,608,716...19,612,572 		JBrowse link
G Ccdc102a coiled-coil domain containing 102A ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:10,102,543...10,118,657
Ensembl chr19:10,103,361...10,118,657 		JBrowse link
G Ccdc113 coiled-coil domain containing 113 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:9,497,000...9,516,917
Ensembl chr19:9,496,886...9,516,923 		JBrowse link
G Ccl17 C-C motif chemokine ligand 17 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:10,202,128...10,203,903
Ensembl chr19:10,202,128...10,203,819 		JBrowse link
G Ccl22 C-C motif chemokine ligand 22 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:10,257,602...10,264,373
Ensembl chr19:10,257,601...10,264,400 		JBrowse link
G Cdh1 cadherin 1 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:34,492,371...34,561,775
Ensembl chr19:34,492,371...34,561,775 		JBrowse link
G Cdh11 cadherin 11 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:2,148,447...2,305,754
Ensembl chr19:2,148,458...2,304,272 		JBrowse link
G Cdh16 cadherin 16 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:360,824...371,008
Ensembl chr19:360,824...371,007 		JBrowse link
G Cdh3 cadherin 3 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:34,393,596...34,444,084
Ensembl chr19:34,393,727...34,444,084 		JBrowse link
G Cdh5 cadherin 5 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:815,415...854,478
Ensembl chr19:815,411...854,368 		JBrowse link
G Cdh8 cadherin 8 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:5,494,038...5,901,810
Ensembl chr19:5,494,174...5,895,669 		JBrowse link
G Cenpt centromere protein T ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:33,734,684...33,741,159
Ensembl chr19:33,734,685...33,741,142 		JBrowse link
G Ces1d carboxylesterase 1D ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:13,873,490...13,912,035
Ensembl chr19:13,796,623...13,912,035 		JBrowse link
G Ces2h carboxylesterase 2H ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:32,974,242...32,988,842
Ensembl chr19:32,974,242...32,988,830 		JBrowse link
G Ces3a carboxylesterase 3a ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:32,992,386...33,000,562 JBrowse link
G Ces4a carboxylesterase 4A ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:33,011,731...33,030,119
Ensembl chr19:33,011,731...33,029,545 		JBrowse link
G Ces5a carboxylesterase 5A ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:11,469,431...11,499,007
Ensembl chr19:11,469,469...11,499,006 		JBrowse link
G Cfap20 cilia and flagella associated protein 20 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:9,608,867...9,622,558
Ensembl chr19:9,608,859...9,622,558 		JBrowse link
G Chd9 chromodomain helicase DNA binding protein 9 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:15,941,535...16,146,220
Ensembl chr19:15,942,687...16,164,556 		JBrowse link
G Chtf8 chromosome transmission fidelity factor 8 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:34,782,005...34,792,306
Ensembl chr19:34,781,856...34,792,578 		JBrowse link
G Ciao2b cytosolic iron-sulfur assembly component 2B ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:344,194...346,068
Ensembl chr19:344,203...346,068 		JBrowse link
G Ciapin1 cytokine induced apoptosis inhibitor 1 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:10,179,963...10,195,511
Ensembl chr19:10,180,100...10,195,503 		JBrowse link
G Cklf chemokine-like factor ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:698,097...706,570
Ensembl chr19:698,033...706,570 		JBrowse link
G Clec18a C-type lectin domain family 18, member A ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:39,038,498...39,053,425
Ensembl chr19:39,038,273...39,056,017 		JBrowse link
G Cmtm1 CKLF-like MARVEL transmembrane domain containing 1 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:651,641...661,184
Ensembl chr19:651,644...661,184 		JBrowse link
G Cmtm2b CKLF-like MARVEL transmembrane domain containing 2B ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:640,838...651,872
Ensembl chr19:640,824...651,939 		JBrowse link
G Cmtm3 CKLF-like MARVEL transmembrane domain containing 3 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:622,563...630,721
Ensembl chr19:604,458...629,790 		JBrowse link
G Cmtm4 CKLF-like MARVEL transmembrane domain containing 4 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:576,203...616,109
Ensembl chr19:576,203...616,109 		JBrowse link
G Cnep1r1 CTD nuclear envelope phosphatase 1 regulatory subunit 1 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:18,932,631...18,947,667
Ensembl chr19:18,932,682...18,947,667 		JBrowse link
G Cngb1 cyclic nucleotide gated channel subunit beta 1 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:9,726,595...9,791,111
Ensembl chr19:9,726,595...9,791,173 		JBrowse link
G Cnot1 CCR4-NOT transcription complex, subunit 1 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:9,255,190...9,346,574
Ensembl chr19:9,255,194...9,346,574 		JBrowse link
G Cog4 component of oligomeric golgi complex 4 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:38,820,478...38,854,803
Ensembl chr19:38,820,501...38,854,796 		JBrowse link
G Cog8 component of oligomeric golgi complex 8 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:34,951,625...34,962,377
Ensembl chr19:34,951,627...34,962,397 		JBrowse link
G Coq9 coenzyme Q9 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:10,166,948...10,179,976
Ensembl chr19:10,166,951...10,179,949 		JBrowse link
G Cpne2 copine 2 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:10,434,277...10,472,146
Ensembl chr19:10,434,277...10,471,820 		JBrowse link
G Crnde colorectal neoplasia differentially expressed ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:33891002 NCBI chr19:14,643,887...14,653,880 JBrowse link
G Csnk2a2 casein kinase 2 alpha 2 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:9,556,443...9,596,080
Ensembl chr19:9,556,260...9,596,080 		JBrowse link
G Ctcf CCCTC-binding factor ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:33,521,726...33,571,124
Ensembl chr19:33,529,319...33,571,123 		JBrowse link
G Ctrl chymotrypsin-like ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:33,827,279...33,829,129
Ensembl chr19:33,827,229...33,833,626 		JBrowse link
G Cx3cl1 C-X3-C motif chemokine ligand 1 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:10,227,337...10,237,826
Ensembl chr19:10,227,340...10,236,833 		JBrowse link
G Cyb5b cytochrome b5 type B ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:35,062,871...35,096,741
Ensembl chr19:35,062,813...35,098,249 		JBrowse link
G Cyld CYLD lysine 63 deubiquitinase ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:18,310,632...18,373,696
Ensembl chr19:18,314,019...18,373,658 		JBrowse link
G Ddx19a DEAD-box helicase 19A ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:38,942,497...38,962,853
Ensembl chr19:38,942,496...38,962,854 		JBrowse link
G Ddx19b DEAD-box helicase 19B ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:38,968,215...38,998,907
Ensembl chr19:38,968,215...38,997,259 		JBrowse link
G Ddx28 DEAD-box helicase 28 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:33,909,799...33,911,729
Ensembl chr19:33,909,801...33,911,742 		JBrowse link
G Dok4 docking protein 4 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:10,146,520...10,157,187
Ensembl chr19:10,146,474...10,158,203 		JBrowse link
G Dpep2 dipeptidase 2 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:33,883,557...33,896,487
Ensembl chr19:33,885,478...33,891,954 		JBrowse link
G Dpep3 dipeptidase 3 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:33,868,229...33,876,609
Ensembl chr19:33,868,242...33,873,896 		JBrowse link
G Drc7 dynein regulatory complex subunit 7 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:9,943,452...9,961,266
Ensembl chr19:9,943,456...9,961,163 		JBrowse link
G Dus2 dihydrouridine synthase 2 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:33,906,517...33,954,922
Ensembl chr19:33,911,750...33,954,709 		JBrowse link
G Dync1li2 dynein, cytoplasmic 1 light intermediate chain 2 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:531,783...554,670
Ensembl chr19:531,812...554,670 		JBrowse link
G E2f4 E2F transcription factor 4 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:33,174,396...33,181,806
Ensembl chr19:33,174,410...33,181,806 		JBrowse link
G Edc4 enhancer of mRNA decapping 4 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:33,774,062...33,786,054
Ensembl chr19:33,774,055...33,787,758 		JBrowse link
G Elmo3 engulfment and cell motility 3 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:33,181,952...33,186,399
Ensembl chr19:33,182,036...33,186,410 		JBrowse link
G Enkd1 enkurin domain containing 1 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:33,592,074...33,596,552
Ensembl chr19:33,592,078...33,596,545 		JBrowse link
G Esrp2 epithelial splicing regulatory protein 2 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:34,034,559...34,041,726
Ensembl chr19:34,034,559...34,041,726 		JBrowse link
G Exoc3l1 exocyst complex component 3-like 1 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:33,166,836...33,174,371
Ensembl chr19:33,166,837...33,172,486 		JBrowse link
G Exosc6 exosome component 6 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:39,022,171...39,023,585
Ensembl chr19:39,022,183...39,023,515 		JBrowse link
G Fbxl8 F-box and leucine-rich repeat protein 8 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:33,142,705...33,147,266
Ensembl chr19:33,142,715...33,147,262 		JBrowse link
G Fcsk fucose kinase ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:38,849,130...38,874,497
Ensembl chr19:38,854,762...38,874,418 		JBrowse link
G Fhod1 formin homology 2 domain containing 1 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:33,206,492...33,225,448
Ensembl chr19:33,206,492...33,225,356 		JBrowse link
G Fto FTO, alpha-ketoglutarate dependent dioxygenase ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:15,284,898...15,692,142
Ensembl chr19:15,349,696...15,692,083 		JBrowse link
G Gfod2 Gfo/Idh/MocA-like oxidoreductase domain containing 2 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:33,599,689...33,647,060
Ensembl chr19:33,604,187...33,647,004 		JBrowse link
G Gins3 GINS complex subunit 3 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:9,420,085...9,428,621
Ensembl chr19:9,420,086...9,428,687 		JBrowse link
G Gnao1 G protein subunit alpha o1 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:11,034,874...11,192,531
Ensembl chr19:11,035,956...11,192,493 		JBrowse link
G Got2 glutamic-oxaloacetic transaminase 2 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:9,174,304...9,199,995
Ensembl chr19:9,174,311...9,199,994 		JBrowse link
G Has3 hyaluronan synthase 3 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:34,768,421...34,782,170
Ensembl chr19:34,771,982...34,782,592 		JBrowse link
G Heatr3 HEAT repeat containing 3 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:18,892,477...18,930,502
Ensembl chr19:18,893,144...18,930,509 		JBrowse link
G Herpud1 homocysteine inducible ER protein with ubiquitin like domain 1 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:10,598,411...10,609,002
Ensembl chr19:10,598,417...10,618,424 		JBrowse link
G Hsd11b2 hydroxysteroid 11-beta dehydrogenase 2 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:33,397,656...33,402,899
Ensembl chr19:33,397,656...33,402,899 		JBrowse link
G Hsf4 heat shock transcription factor 4 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:33,147,755...33,153,479
Ensembl chr19:33,147,755...33,153,479 		JBrowse link
G Il34 interleukin 34 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:38,714,990...38,782,749
Ensembl chr19:38,714,991...38,764,000 		JBrowse link
G Irx3 iroquois homeobox 3 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:15,211,882...15,215,317
Ensembl chr19:15,211,878...15,215,317 		JBrowse link
G Irx5 iroquois homeobox 5 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 PMID:33891002 NCBI chr19:14,639,052...14,643,911
Ensembl chr19:14,624,225...14,642,318 		JBrowse link
G Irx6 iroquois homeobox 6 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 PMID:33891002 NCBI chr19:14,330,440...14,336,403
Ensembl chr19:14,330,440...14,336,403 		JBrowse link
G Katnb1 katanin regulatory subunit B1 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:9,921,216...9,940,853
Ensembl chr19:9,921,219...9,940,650 		JBrowse link
G Kctd19 potassium channel tetramerization domain containing 19 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:33,259,869...33,292,011
Ensembl chr19:33,259,970...33,292,006 		JBrowse link
G Kifc3 kinesin family member C3 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:9,825,114...9,920,371
Ensembl chr19:9,886,693...9,920,451 		JBrowse link
G Lcat lecithin cholesterol acyltransferase ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:33,834,748...33,838,214
Ensembl chr19:33,834,403...33,838,231 		JBrowse link
G Lpcat2 lysophosphatidylcholine acyltransferase 2 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 PMID:33891002 NCBI chr19:14,088,389...14,152,742
Ensembl chr19:14,089,686...14,152,829 		JBrowse link
G Lrrc29 leucine rich repeat containing 29 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:33,181,713...33,203,583
Ensembl chr19:33,188,352...33,203,545 		JBrowse link
G Lrrc36 leucine rich repeat containing 36 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:33,292,074...33,342,426
Ensembl chr19:33,292,074...33,360,141 		JBrowse link
G Matcap1 microtubule associated tyrosine carboxypeptidase 1 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:33,158,053...33,166,784
Ensembl chr19:33,158,056...33,166,445 		JBrowse link
G Mir138-2 microRNA 138-2 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:10,674,193...10,674,274
Ensembl chr19:10,674,193...10,674,274 		JBrowse link
G Mir140 microRNA 140 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:35,465,577...35,465,675
Ensembl chr19:35,465,577...35,465,675 		JBrowse link
G Mir328 microRNA 328 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:33,184,766...33,184,849
Ensembl chr19:33,184,766...33,184,849 		JBrowse link
G Mmp15 matrix metallopeptidase 15 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:9,663,449...9,684,943
Ensembl chr19:9,663,449...9,684,943 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 PMID:33891002 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870 		JBrowse link
G Mt1 metallothionein 1 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:10,826,032...10,827,048
Ensembl chr19:10,826,032...10,827,049
Ensembl chr17:10,826,032...10,827,049 		JBrowse link
G Mt1-ps3 metallothionein 1, pseudogene 3 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr17:74,786,652...74,787,040
Ensembl chr17:74,786,654...74,787,135 		JBrowse link
G Mt2A metallothionein 2A ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:10,832,009...10,832,783
Ensembl chr19:10,832,002...10,832,784 		JBrowse link
G Mt3 metallothionein 3 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:10,848,754...10,850,158
Ensembl chr19:10,848,755...10,850,158 		JBrowse link
G Mt4 metallothionein 4 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:10,863,813...10,865,909
Ensembl chr19:10,863,813...10,865,909 		JBrowse link
G Mtss2 MTSS I-BAR domain containing 2 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:38,692,793...38,714,575
Ensembl chr19:38,693,194...38,713,507 		JBrowse link
G Nae1 NEDD8 activating enzyme E1 subunit 1 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:446,015...472,145
Ensembl chr19:446,000...472,371 		JBrowse link
G Ndrg4 NDRG family member 4 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:9,351,408...9,387,398
Ensembl chr19:9,351,404...9,386,914 		JBrowse link
G Nfat5 nuclear factor of activated T-cells 5 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:35,199,737...35,286,675
Ensembl chr19:35,199,016...35,286,675 		JBrowse link
G Nfatc3 nuclear factor of activated T-cells 3 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:33,960,643...34,035,150
Ensembl chr19:33,960,852...34,035,150 		JBrowse link
G Nip7 nucleolar pre-rRNA processing protein NIP7 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:34,962,557...34,964,700
Ensembl chr19:34,962,557...34,964,711 		JBrowse link
G Nkd1 NKD inhibitor of WNT signaling pathway 1 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:18,476,344...18,549,380
Ensembl chr19:18,476,344...18,549,380 		JBrowse link
G Nlrc5 NLR family, CARD domain containing 5 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:10,477,638...10,581,023
Ensembl chr19:10,477,628...10,562,121 		JBrowse link
G Nob1 NIN1 (RPN12) binding protein 1 homolog ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:35,322,803...35,335,354
Ensembl chr19:35,322,669...35,346,815 		JBrowse link
G Nod2 nucleotide-binding oligomerization domain containing 2 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:18,382,369...18,422,817
Ensembl chr19:18,382,439...18,417,177 		JBrowse link
G Nol3 nucleolar protein 3 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:33,154,061...33,158,250
Ensembl chr19:33,154,062...33,158,250 		JBrowse link
G Nqo1 NAD(P)H quinone dehydrogenase 1 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:35,295,633...35,310,528
Ensembl chr19:35,295,573...35,310,557 		JBrowse link
G Nrn1l neuritin 1-like ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:33,786,419...33,787,879 JBrowse link
G Nudt21 nudix hydrolase 21 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:10,974,800...10,993,841
Ensembl chr19:10,974,241...10,991,682 		JBrowse link
G Nup93 nucleoporin 93 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:10,684,214...10,788,009
Ensembl chr19:10,682,075...10,788,026 		JBrowse link
G Nutf2 nuclear transport factor 2 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:33,752,319...33,773,595
Ensembl chr19:33,752,291...33,773,591 		JBrowse link
G Ogfod1 2-oxoglutarate and iron-dependent oxygenase domain containing 1 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:10,945,031...10,974,602
Ensembl chr19:10,946,018...10,975,119 		JBrowse link
G Pard6a par-6 family cell polarity regulator alpha ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:33,589,531...33,591,900
Ensembl chr19:33,589,542...33,591,900 		JBrowse link
G Pdf peptide deformylase (mitochondrial) ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:34,949,408...34,951,621
Ensembl chr19:34,948,256...34,951,515 		JBrowse link
G Pdp2 pyruvate dehydrogenase phosphatase catalytic subunit 2 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:386,408...394,068
Ensembl chr19:386,406...394,074 		JBrowse link
G Pdpr pyruvate dehydrogenase phosphatase regulatory subunit ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:39,065,226...39,109,695
Ensembl chr19:39,065,157...39,109,688 		JBrowse link
G Phaf1 phagophore assembly factor 1 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:33,101,453...33,138,920
Ensembl chr19:33,101,490...33,138,914 		JBrowse link
G Pla2g15 phospholipase A2, group XV ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:34,050,685...34,068,070
Ensembl chr19:34,050,694...34,068,063 		JBrowse link
G Plekhg4 pleckstrin homology and RhoGEF domain containing G4 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:33,251,788...33,266,490
Ensembl chr19:33,249,706...33,266,357 		JBrowse link
G Pllp plasmolipin ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:10,315,104...10,335,892
Ensembl chr19:10,315,104...10,335,892 		JBrowse link
G Polr2c RNA polymerase II subunit C ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:10,158,153...10,164,935
Ensembl chr19:10,157,823...10,164,945 		JBrowse link
G Prmt7 protein arginine methyltransferase 7 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:34,110,724...34,161,531
Ensembl chr19:34,110,747...34,162,577 		JBrowse link
G Prss54 serine protease 54 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:9,479,995...9,496,838
Ensembl chr19:9,479,995...9,496,835 		JBrowse link
G Pskh1 protein serine kinase H1 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:33,794,919...33,827,040
Ensembl chr19:33,794,935...33,827,032 		JBrowse link
G Psmb10 proteasome 20S subunit beta 10 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:33,830,958...33,833,442
Ensembl chr19:33,827,229...33,833,626 		JBrowse link
G Psme3ip1 proteasome activator subunit 3 interacting protein 1 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:10,401,400...10,430,059
Ensembl chr19:10,401,532...10,429,987 		JBrowse link
G Ranbp10 RAN binding protein 10 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:33,656,046...33,716,864
Ensembl chr19:33,656,046...33,717,033 		JBrowse link
G Rbl2 RB transcriptional corepressor like 2 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:15,876,852...15,923,632
Ensembl chr19:15,876,853...15,923,572 		JBrowse link
G Ripor1 RHO family interacting cell polarization regulator 1 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:33,477,750...33,506,424
Ensembl chr19:33,477,793...33,506,420 		JBrowse link
G Rpgrip1l Rpgrip1-like ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:15,692,189...15,785,083
Ensembl chr19:15,692,150...15,785,083 		JBrowse link
G Rrad RRAD, Ras related glycolysis inhibitor and calcium channel regulator ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:354,184...357,424
Ensembl chr19:354,198...357,417 		JBrowse link
G Rspry1 ring finger and SPRY domain containing 1 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:10,352,449...10,403,015
Ensembl chr19:10,353,821...10,401,102 		JBrowse link
G Sall1 spalt-like transcription factor 1 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:18,005,782...18,022,705
Ensembl chr19:18,007,503...18,022,705 		JBrowse link
G Setd6 SET domain containing 6, protein lysine methyltransferase ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:9,343,309...9,350,477
Ensembl chr19:9,347,458...9,350,453 		JBrowse link
G Sf3b3 splicing factor 3b, subunit 3 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:38,782,749...38,820,271
Ensembl chr19:38,783,040...38,820,245 		JBrowse link
G Slc12a3 solute carrier family 12 member 3 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:10,630,651...10,679,250
Ensembl chr19:10,631,393...10,669,091 		JBrowse link
G Slc12a4 solute carrier family 12 member 4 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:33,838,418...33,860,369
Ensembl chr19:33,838,419...33,860,331 		JBrowse link
G Slc38a7 solute carrier family 38, member 7 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:9,209,203...9,225,472
Ensembl chr19:9,209,257...9,225,454 		JBrowse link
G Slc6a2 solute carrier family 6 member 2 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:14,010,292...14,055,317
Ensembl chr19:14,010,386...14,050,357 		JBrowse link
G Slc7a6 solute carrier family 7 member 6 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:34,073,472...34,100,268
Ensembl chr19:34,074,286...34,100,268 		JBrowse link
G Slc7a6os solute carrier family 7, member 6 opposite strand ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:34,101,978...34,110,666
Ensembl chr19:34,101,982...34,110,651 		JBrowse link
G Slc9a5 solute carrier family 9 member A5 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:33,225,481...33,246,913
Ensembl chr19:33,226,816...33,246,903 		JBrowse link
G Smpd3 sphingomyelin phosphodiesterase 3 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:34,162,337...34,245,786
Ensembl chr19:34,162,341...34,245,749 		JBrowse link
G Sntb2 syntrophin, beta 2 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:34,831,657...34,922,325
Ensembl chr19:34,831,584...34,914,113 		JBrowse link
G Snx20 sorting nexin 20 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:18,435,935...18,445,108
Ensembl chr19:18,435,935...18,445,107 		JBrowse link
G Spmip8 sperm microtubule inner protein 8 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:9,713,281...9,722,257
Ensembl chr19:9,712,641...9,722,257 		JBrowse link
G St3gal2 ST3 beta-galactoside alpha-2,3-sialyltransferase 2 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:38,888,851...38,939,874
Ensembl chr19:38,923,999...38,939,869 		JBrowse link
G Tango6 transport and golgi organization 6 homolog ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:34,569,588...34,757,362
Ensembl chr19:34,569,635...34,754,639 		JBrowse link
G Tent4b terminal nucleotidyltransferase 4B ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:18,807,616...18,868,969
Ensembl chr19:18,807,525...18,869,537 		JBrowse link
G Terb1 telomere repeat binding bouquet formation protein 1 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:473,720...528,069
Ensembl chr19:473,218...528,084 		JBrowse link
G Terf2 telomeric repeat binding factor 2 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:34,976,963...35,005,813
Ensembl chr19:34,977,471...35,005,819 		JBrowse link
G Thap11 THAP domain containing 11 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:33,746,977...33,748,794
Ensembl chr19:33,746,854...33,749,540 		JBrowse link
G Tk2 thymidine kinase 2 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:708,859...731,786
Ensembl chr19:708,891...730,924 		JBrowse link
G Tmed6 transmembrane p24 trafficking protein 6 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:34,966,813...34,972,900
Ensembl chr19:34,966,813...34,972,900 		JBrowse link
G Tmem208 transmembrane protein 208 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:33,203,587...33,206,287
Ensembl chr19:33,203,587...33,212,183 		JBrowse link
G Tox3 TOX high mobility group box family member 3 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:16,648,338...16,757,151
Ensembl chr19:16,648,342...16,757,148 		JBrowse link
G Tppp3 tubulin polymerization-promoting protein family member 3 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:33,345,897...33,349,610
Ensembl chr19:33,345,898...33,349,577 		JBrowse link
G Tradd TNFRSF1A-associated via death domain ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:33,136,148...33,142,714
Ensembl chr19:33,136,138...33,142,638 		JBrowse link
G Tsnaxip1 translin-associated factor X interacting protein 1 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:33,716,834...33,734,824
Ensembl chr19:33,716,785...33,734,824 		JBrowse link
G Usb1 U6 snRNA biogenesis phosphodiesterase 1 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:9,689,313...9,702,306
Ensembl chr19:9,689,316...9,702,302 		JBrowse link
G Utp4 UTP4 small subunit processome component ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:34,790,962...34,820,558
Ensembl chr19:34,792,457...34,820,550 		JBrowse link
G Vac14 VAC14 component of PIKFYVE complex ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:38,590,569...38,691,911
Ensembl chr19:38,590,569...38,691,909 		JBrowse link
G Vps4a vacuolar protein sorting 4 homolog A ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:34,934,999...34,948,888
Ensembl chr19:34,934,961...34,948,887 		JBrowse link
G Wwp2 WW domain containing E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:35,346,826...35,471,251
Ensembl chr19:35,346,814...35,472,699 		JBrowse link
G Zdhhc1 zinc finger, DHHC-type containing 1 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:33,350,533...33,375,717
Ensembl chr19:33,350,533...33,375,616 		JBrowse link
G Zfp319 zinc finger protein 319 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:9,702,827...9,706,806
Ensembl chr19:9,702,144...9,713,198 		JBrowse link
G Zfp423 zinc finger protein 423 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:19,111,213...19,407,373
Ensembl chr19:19,110,238...19,407,373 		JBrowse link
G Zfp90 zinc finger protein 90 ISO ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome ClinVar PMID:25741868 NCBI chr19:34,321,980...34,333,195
Ensembl chr19:34,321,940...34,333,194 		JBrowse link
Cone Dystrophy 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pde6c phosphodiesterase 6C ISO ClinVar Annotator: match by term: Cone dystrophy 4 | ClinVar Annotator: match by term: PDE6C-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:10393054 PMID:16199547 PMID:17576681 PMID:18614542 More... NCBI chr 1:235,909,583...235,965,435
Ensembl chr 1:235,909,775...235,965,315 		JBrowse link
retinal cone dystrophy 3A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pde6h phosphodiesterase 6H ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Retinal cone dystrophy 3A		 OMIM
CTD
ClinVar		 PMID:15629837 PMID:22901948 PMID:25741868 PMID:27472364 PMID:28492532 NCBI chr 4:169,857,793...169,872,969
Ensembl chr 4:169,857,812...169,872,969 		JBrowse link
retinal cone dystrophy 3B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8333273 PMID:16909397 PMID:17896311 PMID:18235024 PMID:18400204 More... NCBI chr 1:224,999,552...225,014,062
Ensembl chr 1:224,999,552...225,014,062 		JBrowse link
retinal cone dystrophy 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17033974 PMID:17576681 PMID:24033266 More... NCBI chr 4:152,408,588...152,521,478
Ensembl chr 4:152,408,657...152,521,268 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19102
    sensory system disease 7330
      eye disease 3696
        retinal disease 1401
          cone dystrophy 218
            Chromosome 16q12 Duplication Syndrome 187
            Cone Dystrophy 4 1
            X-Linked Cone Dystrophy with Tapetal-like Sheen 0
            retinal cone dystrophy 1 0
            retinal cone dystrophy 3A 1
            retinal cone dystrophy 3B 1
            retinal cone dystrophy 4 1
Path 2
Term Annotations click to browse term
  disease 19102
    disease of anatomical entity 18443
      nervous system disease 14336
        Neurologic Manifestations 10421
          sensory system disease 7330
            eye disease 3696
              retinal disease 1401
                cone dystrophy 218
                  Chromosome 16q12 Duplication Syndrome 187
                  Cone Dystrophy 4 1
                  X-Linked Cone Dystrophy with Tapetal-like Sheen 0
                  retinal cone dystrophy 1 0
                  retinal cone dystrophy 3A 1
                  retinal cone dystrophy 3B 1
                  retinal cone dystrophy 4 1
paths to the root