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MAMMALIAN PHENOTYPE - ANNOTATIONS

The Mouse Adult Gross Anatomy Ontology and Mammalian Phenotype Ontology are downloaded weekly from the Mouse Genome Informatics databases at Jackson Laboratories (ftp://ftp.informatics.jax.org/pub/reports/index.html). For more information about these ontologies, see the MGI Publications Page at http://www.informatics.jax.org/mgihome/other/publications.shtml.
Term:abnormal iris morphology
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Accession:MP:0001322 term browser browse the term
Definition:any structural anomaly of the adjustable membrane, composed of the stroma and pigmented epithelium, located just in front of the crystalline lens within the eye
Synonyms:exact_synonym: iris abnormalities
 narrow_synonym: iris dysplasia
 alt_id: MP:0006227


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abnormal iris morphology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abi2 abl interactor 2 IEA MGI NCBI chr 1:60,444,927...60,521,104
Ensembl chr 1:60,448,778...60,520,317 		JBrowse link
G Agap1 ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 IEA MGI NCBI chr 1:89,382,533...89,823,004
Ensembl chr 1:89,382,528...89,825,339 		JBrowse link
G Atf4 activating transcription factor 4 IAGP MGI PMID:10885750 NCBI chr15:80,139,385...80,141,746
Ensembl chr15:80,139,385...80,141,742 		JBrowse link
G Awat2 acyl-CoA wax alcohol acyltransferase 2 IAGP MGI PMID:32851726 NCBI chr  X:99,445,827...99,537,885
Ensembl chr  X:99,445,827...99,486,323 		JBrowse link
G Bcar3 breast cancer anti-estrogen resistance 3 IAGP MGI PMID:19365570 NCBI chr 3:122,213,406...122,323,840
Ensembl chr 3:122,087,785...122,323,840 		JBrowse link
G Bloc1s5 biogenesis of lysosomal organelles complex-1, subunit 5, muted IEA MGI NCBI chr13:38,786,674...38,821,093
Ensembl chr13:38,776,818...38,819,085 		JBrowse link
G Bmp4 bone morphogenetic protein 4 IAGP MGI PMID:11722794 NCBI chr14:46,620,982...46,628,126
Ensembl chr14:46,620,977...46,628,126 		JBrowse link
G Cenpj centromere protein J IAGP MGI PMID:23166506 NCBI chr14:56,764,218...56,812,950
Ensembl chr14:56,764,218...56,812,882 		JBrowse link
G Col18a1 collagen, type XVIII, alpha 1 IAGP MGI PMID:12766032 NCBI chr10:76,888,013...77,002,351
Ensembl chr10:76,888,012...77,002,382 		JBrowse link
G Col4a1 collagen, type IV, alpha 1 IEA MGI NCBI chr 8:11,248,423...11,362,889
Ensembl chr 8:11,248,423...11,362,826 		JBrowse link
G Commd9 COMM domain containing 9 IEA MGI NCBI chr 2:101,716,607...101,731,984
Ensembl chr 2:101,716,592...101,731,991 		JBrowse link
G Cryge crystallin, gamma E IAGP MGI PMID:3209064 NCBI chr 1:65,087,716...65,090,783
Ensembl chr 1:65,087,713...65,090,308 		JBrowse link
G Cubn cubilin IEA MGI NCBI chr 2:13,281,149...13,496,687
Ensembl chr 2:13,281,149...13,496,624 		JBrowse link
G Cyb561 cytochrome b-561 IEA MGI NCBI chr11:105,824,528...105,844,157
Ensembl chr11:105,824,528...105,844,162 		JBrowse link
G Dsg1b desmoglein 1 beta IEA MGI NCBI chr18:20,509,786...20,545,240
Ensembl chr18:20,509,786...20,543,253 		JBrowse link
G Duoxa2 dual oxidase maturation factor 2 IEA MGI NCBI chr 2:122,129,381...122,133,088
Ensembl chr 2:122,129,381...122,133,366 		JBrowse link
G Elmod1 ELMO/CED-12 domain containing 1 IEA MGI NCBI chr 9:53,818,741...53,882,628
Ensembl chr 9:53,818,741...53,882,585 		JBrowse link
G Elovl5 ELOVL fatty acid elongase 5 IEA MGI NCBI chr 9:77,824,647...77,891,801
Ensembl chr 9:77,824,646...77,891,801 		JBrowse link
G Fam163a family with sequence similarity 163, member A IEA MGI NCBI chr 1:155,951,702...156,033,027
Ensembl chr 1:155,951,712...156,032,596 		JBrowse link
G Fgf7 fibroblast growth factor 7 IEA MGI NCBI chr 2:125,876,578...125,933,105
Ensembl chr 2:125,876,578...125,933,105 		JBrowse link
G Foxc1 forkhead box C1 IAGP MGI PMID:10767326 PMID:17715063 NCBI chr13:31,990,629...31,994,618
Ensembl chr13:31,990,616...31,996,459 		JBrowse link
G Foxc2 forkhead box C2 IAGP MGI PMID:10767326 NCBI chr 8:121,842,910...121,845,634
Ensembl chr 8:121,842,910...121,845,634 		JBrowse link
G Foxe3 forkhead box E3 IAGP MGI PMID:109409 PMID:17064680 NCBI chr 4:114,781,640...114,783,264
Ensembl chr 4:114,782,344...114,783,210 		JBrowse link
G Ftx Ftx transcript, Xist regulator, non-protein coding IAGP MGI PMID:30237402 NCBI chr  X:102,604,516...102,667,360
Ensembl chr  X:102,592,988...102,667,512 		JBrowse link
G Gas1 growth arrest specific 1 IAGP MGI PMID:11456441 NCBI chr13:60,322,219...60,325,179
Ensembl chr13:60,322,219...60,325,179 		JBrowse link
G Gja1 gap junction protein, alpha 1 IAGP MGI PMID:16155213 NCBI chr10:56,253,297...56,266,519
Ensembl chr10:56,253,426...56,278,609 		JBrowse link
G Gja8 gap junction protein, alpha 8 IAGP MGI PMID:15253273 NCBI chr 3:96,820,882...96,833,367
Ensembl chr 3:96,820,882...96,833,336 		JBrowse link
G Glyr1 glyoxylate reductase 1 homolog (Arabidopsis) IEA MGI NCBI chr16:4,831,766...4,867,780
Ensembl chr16:4,831,773...4,867,727 		JBrowse link
G Gpnmb glycoprotein (transmembrane) nmb IAGP MGI PMID:16827931 NCBI chr 6:49,013,449...49,044,413
Ensembl chr 6:49,013,480...49,047,863 		JBrowse link
G Grip1 glutamate receptor interacting protein 1 IAGP MGI PMID:10974668 NCBI chr10:119,289,810...119,923,172
Ensembl chr10:119,289,735...119,923,166 		JBrowse link
G Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 IEA MGI NCBI chr18:50,261,268...50,329,337
Ensembl chr18:50,261,268...50,329,336 		JBrowse link
G Ints15 integrator complex subunit 15 IAGP MGI PMID:36851842 NCBI chr 5:143,286,827...143,301,147
Ensembl chr 5:143,286,950...143,301,115 		JBrowse link
G Itpr1 inositol 1,4,5-trisphosphate receptor 1 IAGP MGI PMID:27108798 NCBI chr 6:108,190,044...108,528,077
Ensembl chr 6:108,190,057...108,528,070 		JBrowse link
G Jag1 jagged 1 IAGP MGI PMID:29162437 NCBI chr 2:136,923,371...136,958,440
Ensembl chr 2:136,923,376...136,958,564 		JBrowse link
G Jmjd1c jumonji domain containing 1C IEA MGI NCBI chr10:66,932,189...67,092,105
Ensembl chr10:66,931,904...67,092,105 		JBrowse link
G Kat14 lysine acetyltransferase 14 IEA MGI NCBI chr 2:144,210,952...144,249,595
Ensembl chr 2:144,210,903...144,249,596 		JBrowse link
G Klf5 Kruppel-like transcription factor 5 IAGP MGI PMID:21600198 NCBI chr14:99,536,127...99,550,848
Ensembl chr14:99,536,127...99,552,472 		JBrowse link
G Lmx1b LIM homeobox transcription factor 1 beta IAGP MGI PMID:11929848 PMID:24809698 NCBI chr 2:33,450,977...33,531,219
Ensembl chr 2:33,450,977...33,530,620 		JBrowse link
G Loxl1 lysyl oxidase-like 1 IAGP MGI PMID:24425853 NCBI chr 9:58,195,006...58,220,495
Ensembl chr 9:58,195,021...58,220,469 		JBrowse link
G Ltbp2 latent transforming growth factor beta binding protein 2 IAGP MGI PMID:24908666 NCBI chr12:84,829,986...84,923,581
Ensembl chr12:84,829,986...84,923,306 		JBrowse link
G Lyst lysosomal trafficking regulator IAGP MGI PMID:19029039 NCBI chr13:13,764,896...13,953,388
Ensembl chr13:13,764,982...13,953,388 		JBrowse link
G Map3k1 mitogen-activated protein kinase kinase kinase 1 IAGP MGI PMID:21862560 NCBI chr13:111,882,962...111,954,803
Ensembl chr13:111,882,962...111,945,527 		JBrowse link
G Mettl5 methyltransferase 5, N6-adenosine IEA MGI NCBI chr 2:69,701,539...69,717,961
Ensembl chr 2:69,701,542...69,715,959 		JBrowse link
G Mitf melanogenesis associated transcription factor IAGP MGI PMID:11929848 NCBI chr 6:97,783,966...97,998,321
Ensembl chr 6:97,784,013...97,998,310 		JBrowse link
G Myo10 myosin X IEA MGI NCBI chr15:25,622,636...25,813,759
Ensembl chr15:25,622,611...25,813,759 		JBrowse link
G Nptn neuroplastin IEA MGI NCBI chr 9:58,489,504...58,560,162
Ensembl chr 9:58,489,523...58,565,238 		JBrowse link
G Nrg1 neuregulin 1 IAGP MGI PMID:21949880 NCBI chr 8:32,299,493...33,381,858
Ensembl chr 8:32,304,579...33,374,825
Ensembl chr 8:32,304,579...33,374,825 		JBrowse link
G Otx1 orthodenticle homeobox 1 IAGP MGI PMID:8841200 PMID:9521907 NCBI chr11:21,944,764...21,954,044
Ensembl chr11:21,944,764...21,952,897 		JBrowse link
G Otx2 orthodenticle homeobox 2 IAGP MGI PMID:24234651 NCBI chr14:48,894,238...48,905,101
Ensembl chr14:48,895,134...48,911,276 		JBrowse link
G Pax6 paired box 6 IAGP MGI PMID:11062307 PMID:11779807 PMID:11983873 PMID:19563798 NCBI chr 2:105,499,241...105,528,755
Ensembl chr 2:105,499,245...105,527,709 		JBrowse link
G Pex6 peroxisomal biogenesis factor 6 IEA MGI NCBI chr17:47,022,402...47,036,469
Ensembl chr17:47,022,389...47,036,467 		JBrowse link
G Ppp1r13l protein phosphatase 1, regulatory subunit 13 like IAGP MGI PMID:22928477 NCBI chr 7:19,093,639...19,112,465
Ensembl chr 7:19,093,674...19,112,458 		JBrowse link
G Prdm4 PR domain containing 4 IEA MGI NCBI chr10:85,727,828...85,752,958
Ensembl chr10:85,727,830...85,753,006 		JBrowse link
G Prkci protein kinase C, iota IAGP MGI PMID:19835853 NCBI chr 3:31,049,893...31,106,889
Ensembl chr 3:31,049,896...31,107,108 		JBrowse link
G Pxdn peroxidasin IAGP MGI PMID:24895407 NCBI chr12:29,986,641...30,067,657
Ensembl chr12:29,987,607...30,067,657 		JBrowse link
G Rnps1 RNA binding protein with serine rich domain 1 IEA MGI NCBI chr17:24,633,620...24,644,872
Ensembl chr17:24,633,539...24,644,875 		JBrowse link
G Sirt1 sirtuin 1 IEA MGI NCBI chr10:63,154,784...63,174,814
Ensembl chr10:63,154,784...63,217,483 		JBrowse link
G Slc20a2 solute carrier family 20, member 2 IEA MGI NCBI chr 8:22,966,771...23,059,632
Ensembl chr 8:22,966,804...23,059,628 		JBrowse link
G Slx4 SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) IAGP MGI PMID:21240276 NCBI chr16:3,796,969...3,821,708
Ensembl chr16:3,796,969...3,821,634 		JBrowse link
G Spns2 SPNS lysolipid transporter 2, sphingosine-1-phosphate IAGP MGI PMID:24652767 NCBI chr11:72,342,464...72,380,797
Ensembl chr11:72,342,464...72,380,730 		JBrowse link
G Tdrd7 tudor domain containing 7 IAGP MGI PMID:21436445 NCBI chr 4:45,965,335...46,034,766
Ensembl chr 4:45,965,334...46,034,761 		JBrowse link
G Tfap2a transcription factor AP-2, alpha IAGP MGI PMID:15181535 NCBI chr13:40,867,278...40,891,715
Ensembl chr13:40,868,778...40,891,852 		JBrowse link
G Tgfa transforming growth factor alpha IAGP MGI PMID:8477445 NCBI chr 6:86,172,020...86,252,726
Ensembl chr 6:86,172,205...86,252,701 		JBrowse link
G Tmem165 transmembrane protein 165 IEA MGI NCBI chr 5:76,331,727...76,357,091
Ensembl chr 5:76,331,727...76,357,092 		JBrowse link
G Tsc1 TSC complex subunit 1 IAGP MGI PMID:28250050 NCBI chr 2:28,531,005...28,581,183
Ensembl chr 2:28,531,240...28,581,179 		JBrowse link
G Tspyl5 testis-specific protein, Y-encoded-like 5 IEA MGI NCBI chr15:33,684,021...33,688,029
Ensembl chr15:33,684,021...33,688,030 		JBrowse link
G Tyrp1 tyrosinase-related protein 1 IAGP MGI PMID:16827931 NCBI chr 4:80,752,360...80,769,973
Ensembl chr 4:80,752,360...80,769,956 		JBrowse link
G Ube3b ubiquitin protein ligase E3B IEA MGI NCBI chr 5:114,518,578...114,559,226
Ensembl chr 5:114,518,668...114,559,230 		JBrowse link
abnormal iris pigment epithelium term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col18a1 collagen, type XVIII, alpha 1 IAGP MGI PMID:12766032 NCBI chr10:76,888,013...77,002,351
Ensembl chr10:76,888,012...77,002,382 		JBrowse link
G Foxc1 forkhead box C1 IAGP MGI PMID:10767326 NCBI chr13:31,990,629...31,994,618
Ensembl chr13:31,990,616...31,996,459 		JBrowse link
G Foxc2 forkhead box C2 IAGP MGI PMID:10767326 NCBI chr 8:121,842,910...121,845,634
Ensembl chr 8:121,842,910...121,845,634 		JBrowse link
G Gpnmb glycoprotein (transmembrane) nmb IAGP MGI PMID:10192392 NCBI chr 6:49,013,449...49,044,413
Ensembl chr 6:49,013,480...49,047,863 		JBrowse link
G Gpr143 G protein-coupled receptor 143 IAGP MGI PMID:11092754 NCBI chr  X:151,564,917...151,591,647
Ensembl chr  X:151,564,917...151,591,642 		JBrowse link
G Lyst lysosomal trafficking regulator IAGP MGI PMID:16518687 PMID:19029039 NCBI chr13:13,764,896...13,953,388
Ensembl chr13:13,764,982...13,953,388 		JBrowse link
G Prkci protein kinase C, iota IAGP MGI PMID:19835853 NCBI chr 3:31,049,893...31,106,889
Ensembl chr 3:31,049,896...31,107,108 		JBrowse link
G Trpm3 transient receptor potential cation channel, subfamily M, member 3 IAGP MGI PMID:33484482 NCBI chr19:22,114,789...22,972,774
Ensembl chr19:22,116,410...22,972,774 		JBrowse link
G Tsc1 TSC complex subunit 1 IAGP MGI PMID:28250050 NCBI chr 2:28,531,005...28,581,183
Ensembl chr 2:28,531,240...28,581,179 		JBrowse link
G Tyrp1 tyrosinase-related protein 1 IAGP MGI PMID:10192392 NCBI chr 4:80,752,360...80,769,973
Ensembl chr 4:80,752,360...80,769,956 		JBrowse link
abnormal iris pigmentation term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G a nonagouti IAGP MGI PMID:16578176 NCBI chr 2:154,792,519...154,892,932
Ensembl chr 2:154,633,322...154,892,932 		JBrowse link
G Aasdhppt aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase IEA MGI NCBI chr 9:4,294,793...4,309,656
Ensembl chr 9:4,294,793...4,309,471 		JBrowse link
G Abi2 abl interactor 2 IEA MGI NCBI chr 1:60,444,927...60,521,104
Ensembl chr 1:60,448,778...60,520,317 		JBrowse link
G Bloc1s5 biogenesis of lysosomal organelles complex-1, subunit 5, muted IEA MGI NCBI chr13:38,786,674...38,821,093
Ensembl chr13:38,776,818...38,819,085 		JBrowse link
G Ccdc28a coiled-coil domain containing 28A IEA MGI NCBI chr10:18,089,424...18,110,940
Ensembl chr10:18,089,424...18,110,746 		JBrowse link
G Col18a1 collagen, type XVIII, alpha 1 IEA MGI NCBI chr10:76,888,013...77,002,351
Ensembl chr10:76,888,012...77,002,382 		JBrowse link
G Dct dopachrome tautomerase IAGP MGI PMID:18715234 NCBI chr14:118,250,202...118,289,658
Ensembl chr14:118,250,202...118,289,656 		JBrowse link
G Dtnbp1 dystrobrevin binding protein 1 IEA MGI NCBI chr13:45,075,552...45,155,614
Ensembl chr13:45,075,551...45,155,623 		JBrowse link
G Eddm3b epididymal protein 3B IEA MGI NCBI chr14:51,351,886...51,355,248
Ensembl chr14:51,351,883...51,355,264 		JBrowse link
G Epb41l1 erythrocyte membrane protein band 4.1 like 1 IEA MGI NCBI chr 2:156,255,918...156,385,134
Ensembl chr 2:156,262,829...156,385,134 		JBrowse link
G Frmd4b FERM domain containing 4B IEA MGI NCBI chr 6:97,263,828...97,594,618
Ensembl chr 6:97,263,828...97,594,502 		JBrowse link
G Fshr follicle stimulating hormone receptor IEA MGI NCBI chr17:89,292,380...89,508,103
Ensembl chr17:89,292,380...89,508,103 		JBrowse link
G Gpnmb glycoprotein (transmembrane) nmb IAGP MGI PMID:10192392 PMID:16827931 NCBI chr 6:49,013,449...49,044,413
Ensembl chr 6:49,013,480...49,047,863 		JBrowse link
G Hps1 HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 IAGP MGI PMID:18715234 NCBI chr19:42,743,629...42,770,013
Ensembl chr19:42,743,544...42,768,417 		JBrowse link
G Hps3 HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 IAGP MGI PMID:18715234 NCBI chr 3:20,050,109...20,089,478
Ensembl chr 3:20,050,109...20,089,479 		JBrowse link
G Hps5 HPS5, biogenesis of lysosomal organelles complex 2 subunit 2 IEA MGI NCBI chr 7:46,409,890...46,445,501
Ensembl chr 7:46,409,890...46,445,488 		JBrowse link
G Hps6 HPS6, biogenesis of lysosomal organelles complex 2 subunit 3 IAGP MGI PMID:16578176 NCBI chr19:45,991,917...45,994,612
Ensembl chr19:45,991,947...45,994,612 		JBrowse link
G Hsf4 heat shock transcription factor 4 IEA MGI NCBI chr 8:105,996,392...106,002,477
Ensembl chr 8:105,996,433...106,002,477 		JBrowse link
G Kdm8 lysine (K)-specific demethylase 8 IEA MGI NCBI chr 7:125,043,788...125,062,823
Ensembl chr 7:125,043,848...125,061,441 		JBrowse link
G Lyst lysosomal trafficking regulator IAGP MGI PMID:13943454 PMID:16518687 PMID:18715234 PMID:19029039 NCBI chr13:13,764,896...13,953,388
Ensembl chr13:13,764,982...13,953,388 		JBrowse link
G Mitf melanogenesis associated transcription factor IAGP MGI PMID:4392283 PMID:8402531 PMID:11929848 PMID:18715234 NCBI chr 6:97,783,966...97,998,321
Ensembl chr 6:97,784,013...97,998,310 		JBrowse link
G Pitx2 paired-like homeodomain transcription factor 2 IEA MGI NCBI chr 3:128,993,527...129,013,243
Ensembl chr 3:128,993,527...129,013,240 		JBrowse link
G Pitx3 paired-like homeodomain transcription factor 3 IAGP MGI PMID:4970465 NCBI chr19:46,123,720...46,136,764
Ensembl chr19:46,124,124...46,136,765 		JBrowse link
G Rab38 RAB38, member RAS oncogene family IAGP MGI PMID:18715234 NCBI chr 7:88,079,481...88,140,780
Ensembl chr 7:88,079,481...88,140,780 		JBrowse link
G Sars1 seryl-tRNA synthetase 1 IEA MGI NCBI chr 3:108,332,180...108,352,575
Ensembl chr 3:108,332,181...108,352,525 		JBrowse link
G Slc24a5 solute carrier family 24, member 5 IAGP MGI PMID:18424845 NCBI chr 2:124,910,076...124,930,316
Ensembl chr 2:124,910,044...124,930,597 		JBrowse link
G Slc38a8 solute carrier family 38, member 8 IAGP MGI PMID:37862028 NCBI chr 8:120,206,313...120,228,503
Ensembl chr 8:120,206,341...120,228,437 		JBrowse link
G Tmem98 transmembrane protein 98 IAGP MGI PMID:31266059 NCBI chr11:80,701,192...80,712,859
Ensembl chr11:80,701,001...80,712,859 		JBrowse link
G Trip13 thyroid hormone receptor interactor 13 IEA MGI NCBI chr13:74,060,577...74,085,855
Ensembl chr13:74,059,466...74,085,903 		JBrowse link
G Tyr tyrosinase IAGP MGI PMID:21968110 NCBI chr 7:87,073,979...87,142,637
Ensembl chr 7:87,073,979...87,142,720 		JBrowse link
G Tyrp1 tyrosinase-related protein 1 IAGP MGI PMID:16827931 PMID:18715234 NCBI chr 4:80,752,360...80,769,973
Ensembl chr 4:80,752,360...80,769,956 		JBrowse link
G Vps33a VPS33A CORVET/HOPS core subunit IAGP MGI PMID:18715234 NCBI chr 5:123,666,820...123,711,104
Ensembl chr 5:123,666,722...123,711,101 		JBrowse link
abnormal iris stroma morphology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxf2 forkhead box F2 IAGP MGI PMID:22022403 NCBI chr13:31,809,686...31,815,390
Ensembl chr13:31,809,799...31,815,386 		JBrowse link
G Gpnmb glycoprotein (transmembrane) nmb IAGP MGI PMID:10192392 NCBI chr 6:49,013,449...49,044,413
Ensembl chr 6:49,013,480...49,047,863 		JBrowse link
G Lmx1b LIM homeobox transcription factor 1 beta IAGP MGI PMID:10660670 NCBI chr 2:33,450,977...33,531,219
Ensembl chr 2:33,450,977...33,530,620 		JBrowse link
G Lyst lysosomal trafficking regulator IAGP MGI PMID:19029039 NCBI chr13:13,764,896...13,953,388
Ensembl chr13:13,764,982...13,953,388 		JBrowse link
G Pax6 paired box 6 IAGP MGI PMID:20538882 NCBI chr 2:105,499,241...105,528,755
Ensembl chr 2:105,499,245...105,527,709 		JBrowse link
G Rarb retinoic acid receptor, beta IAGP MGI PMID:9240560 NCBI chr14:5,387,365...6,038,924
Ensembl chr14:5,650,540...6,038,924 		JBrowse link
G Rarg retinoic acid receptor, gamma IAGP MGI PMID:9240560 NCBI chr15:102,143,373...102,165,891
Ensembl chr15:102,143,373...102,165,952 		JBrowse link
G Tgfb2 transforming growth factor, beta 2 IAGP MGI PMID:11784073 NCBI chr 1:186,354,984...186,441,504
Ensembl chr 1:186,354,989...186,438,186 		JBrowse link
G Tyrp1 tyrosinase-related protein 1 IAGP MGI PMID:10192392 NCBI chr 4:80,752,360...80,769,973
Ensembl chr 4:80,752,360...80,769,956 		JBrowse link
abnormal iris stromal pigmentation term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col18a1 collagen, type XVIII, alpha 1 IAGP MGI PMID:12766032 NCBI chr10:76,888,013...77,002,351
Ensembl chr10:76,888,012...77,002,382 		JBrowse link
G Mitf melanogenesis associated transcription factor IEA MGI NCBI chr 6:97,783,966...97,998,321
Ensembl chr 6:97,784,013...97,998,310 		JBrowse link
abnormal iris transillumination term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Esyt1 extended synaptotagmin-like protein 1 IEA MGI NCBI chr10:128,346,117...128,361,728
Ensembl chr10:128,345,834...128,361,740 		JBrowse link
G Hps5 HPS5, biogenesis of lysosomal organelles complex 2 subunit 2 IEA MGI NCBI chr 7:46,409,890...46,445,501
Ensembl chr 7:46,409,890...46,445,488 		JBrowse link
G Slc24a5 solute carrier family 24, member 5 IEA MGI NCBI chr 2:124,910,076...124,930,316
Ensembl chr 2:124,910,044...124,930,597 		JBrowse link
abnormal placement of pupils term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamtsl4 ADAMTS-like 4 IEA MGI NCBI chr 3:95,583,511...95,595,232
Ensembl chr 3:95,583,511...95,595,228 		JBrowse link
G Bmp4 bone morphogenetic protein 4 IAGP MGI PMID:11722794 NCBI chr14:46,620,982...46,628,126
Ensembl chr14:46,620,977...46,628,126 		JBrowse link
G Col18a1 collagen, type XVIII, alpha 1 IEA MGI NCBI chr10:76,888,013...77,002,351
Ensembl chr10:76,888,012...77,002,382 		JBrowse link
G Cyb561 cytochrome b-561 IEA MGI NCBI chr11:105,824,528...105,844,157
Ensembl chr11:105,824,528...105,844,162 		JBrowse link
G Fgf7 fibroblast growth factor 7 IEA MGI NCBI chr 2:125,876,578...125,933,105
Ensembl chr 2:125,876,578...125,933,105 		JBrowse link
G Foxc1 forkhead box C1 IAGP MGI PMID:10767326 NCBI chr13:31,990,629...31,994,618
Ensembl chr13:31,990,616...31,996,459 		JBrowse link
G Foxg1 forkhead box G1 IAGP MGI PMID:26107939 NCBI chr12:49,429,666...49,433,650
Ensembl chr12:49,429,443...49,433,644 		JBrowse link
G Jag1 jagged 1 IAGP MGI PMID:10196361 NCBI chr 2:136,923,371...136,958,440
Ensembl chr 2:136,923,376...136,958,564 		JBrowse link
G Lrp2 low density lipoprotein receptor-related protein 2 IAGP MGI PMID:26107939 NCBI chr 2:69,254,679...69,416,373
Ensembl chr 2:69,254,684...69,416,409 		JBrowse link
G Pitx2 paired-like homeodomain transcription factor 2 IAGP MGI PMID:10498698 PMID:10499585 NCBI chr 3:128,993,527...129,013,243
Ensembl chr 3:128,993,527...129,013,240 		JBrowse link
G Plekha5 pleckstrin homology domain containing, family A member 5 IEA MGI NCBI chr 6:140,369,358...140,542,836
Ensembl chr 6:140,369,780...140,542,836 		JBrowse link
G Ppp2r5c protein phosphatase 2, regulatory subunit B', gamma IEA MGI NCBI chr12:110,413,532...110,549,509
Ensembl chr12:110,413,554...110,549,496 		JBrowse link
G Ptpn18 protein tyrosine phosphatase, non-receptor type 18 IEA MGI NCBI chr 1:34,498,827...34,514,811
Ensembl chr 1:34,498,843...34,514,814 		JBrowse link
G Sema3e sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E IEA MGI NCBI chr 5:14,075,290...14,306,703
Ensembl chr 5:14,075,290...14,306,703 		JBrowse link
G Slx4 SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) IEA MGI NCBI chr16:3,796,969...3,821,708
Ensembl chr16:3,796,969...3,821,634 		JBrowse link
G Snip1 Smad nuclear interacting protein 1 IEA MGI NCBI chr 4:124,960,465...124,967,836
Ensembl chr 4:124,960,465...124,967,835 		JBrowse link
abnormal pupil morphology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chd7 chromodomain helicase DNA binding protein 7 IAGP MGI PMID:36232804 NCBI chr 4:8,690,345...8,868,449
Ensembl chr 4:8,690,406...8,867,659 		JBrowse link
G Col18a1 collagen, type XVIII, alpha 1 IAGP MGI PMID:12766032 NCBI chr10:76,888,013...77,002,351
Ensembl chr10:76,888,012...77,002,382 		JBrowse link
G Egln3 egl-9 family hypoxia-inducible factor 3 IAGP MGI PMID:18332118 NCBI chr12:54,225,767...54,250,660
Ensembl chr12:54,225,767...54,250,646 		JBrowse link
G Gja8 gap junction protein, alpha 8 IAGP MGI PMID:15253273 NCBI chr 3:96,820,882...96,833,367
Ensembl chr 3:96,820,882...96,833,336 		JBrowse link
G Pax6 paired box 6 IAGP MGI PMID:11779807 PMID:11983873 NCBI chr 2:105,499,241...105,528,755
Ensembl chr 2:105,499,245...105,527,709 		JBrowse link
G Pitx2 paired-like homeodomain transcription factor 2 IAGP MGI PMID:10498698 NCBI chr 3:128,993,527...129,013,243
Ensembl chr 3:128,993,527...129,013,240 		JBrowse link
G Rab18 RAB18, member RAS oncogene family IAGP MGI PMID:24764192 NCBI chr18:6,765,167...6,791,606
Ensembl chr18:6,733,905...6,794,429 		JBrowse link
G Rpe65 retinal pigment epithelium 65 IEA MGI NCBI chr 3:159,304,712...159,330,944
Ensembl chr 3:159,304,812...159,330,958 		JBrowse link
G Slx4 SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) IAGP MGI PMID:21240276 NCBI chr16:3,796,969...3,821,708
Ensembl chr16:3,796,969...3,821,634 		JBrowse link
G Spns2 SPNS lysolipid transporter 2, sphingosine-1-phosphate IAGP MGI PMID:24652767 NCBI chr11:72,342,464...72,380,797
Ensembl chr11:72,342,464...72,380,730 		JBrowse link
absent iris stroma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh1a1 aldehyde dehydrogenase family 1, subfamily A1 IAGP MGI PMID:16207763 NCBI chr19:20,469,947...20,620,827
Ensembl chr19:20,470,079...20,620,829 		JBrowse link
G Aldh1a3 aldehyde dehydrogenase family 1, subfamily A3 IAGP MGI PMID:16207763 NCBI chr 7:66,040,640...66,077,225
Ensembl chr 7:66,040,638...66,077,265 		JBrowse link
acoria term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alkbh1 alkB homolog 1, histone H2A dioxygenase IAGP MGI PMID:21072209 NCBI chr12:87,474,847...87,490,609
Ensembl chr12:87,472,610...87,490,787 		JBrowse link
G Frem2 Fras1 related extracellular matrix protein 2 IAGP MGI PMID:30802441 NCBI chr 3:53,421,359...53,566,014
Ensembl chr 3:53,421,359...53,564,776 		JBrowse link
G Gli3 GLI-Kruppel family member GLI3 IAGP MGI PMID:6049666 NCBI chr13:15,638,308...15,904,611
Ensembl chr13:15,637,820...15,904,611 		JBrowse link
G Klf4 Kruppel-like transcription factor 4 (gut) IAGP MGI PMID:17060454 NCBI chr 4:55,527,137...55,536,984
Ensembl chr 4:55,527,143...55,532,466 		JBrowse link
G Pitx3 paired-like homeodomain transcription factor 3 IAGP MGI PMID:4970465 NCBI chr19:46,123,720...46,136,764
Ensembl chr19:46,124,124...46,136,765 		JBrowse link
aniridia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fat1 FAT atypical cadherin 1 IAGP MGI PMID:23785297 NCBI chr 8:45,386,137...45,505,294
Ensembl chr 8:45,388,484...45,505,294 		JBrowse link
G Mab21l1 mab-21-like 1 IAGP MGI PMID:12642482 NCBI chr 3:55,689,931...55,692,708
Ensembl chr 3:55,689,931...55,692,422 		JBrowse link
G Otx2 orthodenticle homeobox 2 IAGP MGI PMID:7590242 NCBI chr14:48,894,238...48,905,101
Ensembl chr14:48,895,134...48,911,276 		JBrowse link
G Pax6 paired box 6 IAGP MGI PMID:2173141 PMID:11983873 NCBI chr 2:105,499,241...105,528,755
Ensembl chr 2:105,499,245...105,527,709 		JBrowse link
G Stk35 serine/threonine kinase 35 IAGP MGI PMID:29970477 NCBI chr 2:129,642,437...129,674,207
Ensembl chr 2:129,642,437...129,674,207 		JBrowse link
G Tfap2a transcription factor AP-2, alpha IAGP MGI PMID:9918694 NCBI chr13:40,867,278...40,891,715
Ensembl chr13:40,868,778...40,891,852 		JBrowse link
anisocoria term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pitx2 paired-like homeodomain transcription factor 2 IAGP MGI PMID:10498698 NCBI chr 3:128,993,527...129,013,243
Ensembl chr 3:128,993,527...129,013,240 		JBrowse link
anterior iris synechia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adam17 a disintegrin and metallopeptidase domain 17 IAGP MGI PMID:20194968 NCBI chr12:21,373,510...21,423,633
Ensembl chr12:21,373,510...21,423,633 		JBrowse link
G Bmp4 bone morphogenetic protein 4 IAGP MGI PMID:11722794 NCBI chr14:46,620,982...46,628,126
Ensembl chr14:46,620,977...46,628,126 		JBrowse link
G Col4a1 collagen, type IV, alpha 1 IAGP MGI PMID:11929848 NCBI chr 8:11,248,423...11,362,889
Ensembl chr 8:11,248,423...11,362,826 		JBrowse link
G Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 IAGP MGI PMID:12624268 NCBI chr17:80,014,369...80,022,490
Ensembl chr17:80,008,966...80,022,490 		JBrowse link
G Dag1 dystroglycan 1 IAGP MGI PMID:19846701 NCBI chr 9:108,082,060...108,141,176
Ensembl chr 9:108,081,833...108,141,157 		JBrowse link
G Egfr epidermal growth factor receptor IAGP MGI PMID:9030684 NCBI chr11:16,700,153...16,868,158
Ensembl chr11:16,702,203...16,868,158 		JBrowse link
G Foxc1 forkhead box C1 IAGP MGI PMID:10767326 NCBI chr13:31,990,629...31,994,618
Ensembl chr13:31,990,616...31,996,459 		JBrowse link
G Foxe3 forkhead box E3 IAGP MGI PMID:17064680 NCBI chr 4:114,781,640...114,783,264
Ensembl chr 4:114,782,344...114,783,210 		JBrowse link
G Foxf2 forkhead box F2 IAGP MGI PMID:22022403 NCBI chr13:31,809,686...31,815,390
Ensembl chr13:31,809,799...31,815,386 		JBrowse link
G H2az2 H2A.Z histone variant 2 IAGP MGI PMID:27483349 NCBI chr11:6,377,226...6,394,511
Ensembl chr11:6,377,229...6,394,443 		JBrowse link
G Ints15 integrator complex subunit 15 IAGP MGI PMID:36851842 NCBI chr 5:143,286,827...143,301,147
Ensembl chr 5:143,286,950...143,301,115 		JBrowse link
G Klf5 Kruppel-like transcription factor 5 IAGP MGI PMID:21600198 NCBI chr14:99,536,127...99,550,848
Ensembl chr14:99,536,127...99,552,472 		JBrowse link
G Lgr4 leucine-rich repeat-containing G protein-coupled receptor 4 IAGP MGI PMID:18424556 NCBI chr 2:109,747,919...109,844,602
Ensembl chr 2:109,747,992...109,844,602 		JBrowse link
G Limk2 LIM domain kinase 2 IEA MGI NCBI chr11:3,293,297...3,359,238
Ensembl chr11:3,294,256...3,359,189 		JBrowse link
G Lmx1b LIM homeobox transcription factor 1 beta IAGP MGI PMID:11929848 PMID:24809698 NCBI chr 2:33,450,977...33,531,219
Ensembl chr 2:33,450,977...33,530,620 		JBrowse link
G Msx2 msh homeobox 2 IAGP MGI PMID:22503753 NCBI chr13:53,620,917...53,626,816
Ensembl chr13:53,620,920...53,627,110 		JBrowse link
G Pax6 paired box 6 IAGP MGI PMID:10886015 PMID:11779807 PMID:12714618 PMID:17064680 PMID:20538882 NCBI chr 2:105,499,241...105,528,755
Ensembl chr 2:105,499,245...105,527,709 		JBrowse link
G Pitx2 paired-like homeodomain transcription factor 2 IEA MGI NCBI chr 3:128,993,527...129,013,243
Ensembl chr 3:128,993,527...129,013,240 		JBrowse link
G Ppp1r13l protein phosphatase 1, regulatory subunit 13 like IAGP MGI PMID:22928477 NCBI chr 7:19,093,639...19,112,465
Ensembl chr 7:19,093,674...19,112,458 		JBrowse link
G Sh3pxd2b SH3 and PX domains 2B IAGP MGI PMID:19669234 PMID:21282566 NCBI chr11:32,297,777...32,378,189
Ensembl chr11:32,297,820...32,378,173 		JBrowse link
G Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 IAGP MGI PMID:9030684 NCBI chr17:80,701,181...80,787,882
Ensembl chr17:80,701,180...80,787,882 		JBrowse link
G Stk35 serine/threonine kinase 35 IAGP MGI PMID:29970477 NCBI chr 2:129,642,437...129,674,207
Ensembl chr 2:129,642,437...129,674,207 		JBrowse link
G Tfap2b transcription factor AP-2 beta IAGP MGI PMID:27483349 NCBI chr 1:19,279,132...19,309,071
Ensembl chr 1:19,279,138...19,308,800 		JBrowse link
G Tyr tyrosinase IAGP MGI PMID:12624268 NCBI chr 7:87,073,979...87,142,637
Ensembl chr 7:87,073,979...87,142,720 		JBrowse link
G Vav2 vav 2 oncogene IAGP MGI PMID:20140222 NCBI chr 2:27,152,116...27,317,620
Ensembl chr 2:27,152,116...27,317,045 		JBrowse link
G Vav3 vav 3 oncogene IAGP MGI PMID:20140222 NCBI chr 3:109,247,757...109,593,010
Ensembl chr 3:109,247,969...109,593,014 		JBrowse link
G Zeb1 zinc finger E-box binding homeobox 1 IAGP MGI PMID:18436818 NCBI chr18:5,591,330...5,775,468
Ensembl chr18:5,591,860...5,775,467 		JBrowse link
iris atrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpnmb glycoprotein (transmembrane) nmb IAGP MGI PMID:16827931 NCBI chr 6:49,013,449...49,044,413
Ensembl chr 6:49,013,480...49,047,863 		JBrowse link
G Tyrp1 tyrosinase-related protein 1 IAGP MGI PMID:16827931 NCBI chr 4:80,752,360...80,769,973
Ensembl chr 4:80,752,360...80,769,956 		JBrowse link
iris coloboma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cited2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2 IAGP MGI PMID:12149478 NCBI chr10:17,598,452...17,601,422
Ensembl chr10:17,598,966...17,601,422 		JBrowse link
G Ext1 exostosin glycosyltransferase 1 IAGP MGI PMID:19509472 NCBI chr15:52,931,657...53,209,579
Ensembl chr15:52,927,434...53,209,555 		JBrowse link
G Glce glucuronyl C5-epimerase IAGP MGI PMID:12788935 NCBI chr 9:61,964,526...62,029,891
Ensembl chr 9:61,964,530...62,029,937 		JBrowse link
G H2az2 H2A.Z histone variant 2 IAGP MGI PMID:19509472 NCBI chr11:6,377,226...6,394,511
Ensembl chr11:6,377,229...6,394,443 		JBrowse link
G Hs2st1 heparan sulfate 2-O-sulfotransferase 1 IAGP MGI PMID:9637690 NCBI chr 3:144,135,462...144,275,977
Ensembl chr 3:144,135,467...144,275,942 		JBrowse link
G Jag1 jagged 1 IAGP MGI PMID:10196361 NCBI chr 2:136,923,371...136,958,440
Ensembl chr 2:136,923,376...136,958,564 		JBrowse link
G Kif20b kinesin family member 20B IAGP MGI PMID:21214893 NCBI chr19:34,899,735...34,953,150
Ensembl chr19:34,899,761...34,953,145 		JBrowse link
G Ltbp3 latent transforming growth factor beta binding protein 3 IEA MGI NCBI chr19:5,790,928...5,808,564
Ensembl chr19:5,790,932...5,808,560 		JBrowse link
G Myo10 myosin X IEA MGI NCBI chr15:25,622,636...25,813,759
Ensembl chr15:25,622,611...25,813,759 		JBrowse link
G Ndst1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 IAGP MGI PMID:16020517 NCBI chr18:60,817,566...60,907,465
Ensembl chr18:60,817,566...60,881,722 		JBrowse link
G Rarb retinoic acid receptor, beta IAGP MGI PMID:9240560 NCBI chr14:5,387,365...6,038,924
Ensembl chr14:5,650,540...6,038,924 		JBrowse link
G Rarg retinoic acid receptor, gamma IAGP MGI PMID:9240560 NCBI chr15:102,143,373...102,165,891
Ensembl chr15:102,143,373...102,165,952 		JBrowse link
G Slc13a4 solute carrier family 13 (sodium/sulfate symporters), member 4 IAGP MGI PMID:26292834 NCBI chr 6:35,244,888...35,285,061
Ensembl chr 6:35,244,892...35,285,066 		JBrowse link
G Smoc1 SPARC related modular calcium binding 1 IAGP MGI PMID:21750680 NCBI chr12:81,073,582...81,233,188
Ensembl chr12:81,073,582...81,233,188 		JBrowse link
iris hyperplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Klf4 Kruppel-like transcription factor 4 (gut) IAGP MGI PMID:17060454 NCBI chr 4:55,527,137...55,536,984
Ensembl chr 4:55,527,143...55,532,466 		JBrowse link
G Msx2 msh homeobox 2 IAGP MGI PMID:22503753 NCBI chr13:53,620,917...53,626,816
Ensembl chr13:53,620,920...53,627,110 		JBrowse link
G Scrib scribbled planar cell polarity IAGP MGI PMID:24095903 NCBI chr15:75,919,011...75,941,633
Ensembl chr15:75,919,007...75,941,633 		JBrowse link
iris hypoplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp4 bone morphogenetic protein 4 IAGP MGI PMID:11722794 NCBI chr14:46,620,982...46,628,126
Ensembl chr14:46,620,977...46,628,126 		JBrowse link
G Foxc1 forkhead box C1 IAGP MGI PMID:9635428 PMID:10767326 NCBI chr13:31,990,629...31,994,618
Ensembl chr13:31,990,616...31,996,459 		JBrowse link
G Foxe3 forkhead box E3 IAGP MGI PMID:17064680 NCBI chr 4:114,781,640...114,783,264
Ensembl chr 4:114,782,344...114,783,210 		JBrowse link
G Frem2 Fras1 related extracellular matrix protein 2 IAGP MGI PMID:30802441 NCBI chr 3:53,421,359...53,566,014
Ensembl chr 3:53,421,359...53,564,776 		JBrowse link
G H2az2 H2A.Z histone variant 2 IAGP MGI PMID:25451153 NCBI chr11:6,377,226...6,394,511
Ensembl chr11:6,377,229...6,394,443 		JBrowse link
G Lgr4 leucine-rich repeat-containing G protein-coupled receptor 4 IAGP MGI PMID:18424556 NCBI chr 2:109,747,919...109,844,602
Ensembl chr 2:109,747,992...109,844,602 		JBrowse link
G Lmx1b LIM homeobox transcription factor 1 beta IAGP MGI PMID:20568247 NCBI chr 2:33,450,977...33,531,219
Ensembl chr 2:33,450,977...33,530,620 		JBrowse link
G Mitf melanogenesis associated transcription factor IAGP MGI PMID:8402531 NCBI chr 6:97,783,966...97,998,321
Ensembl chr 6:97,784,013...97,998,310 		JBrowse link
G Pax6 paired box 6 IAGP MGI PMID:103464 PMID:11983873 PMID:12714618 PMID:19563798 NCBI chr 2:105,499,241...105,528,755
Ensembl chr 2:105,499,245...105,527,709 		JBrowse link
G Pitx2 paired-like homeodomain transcription factor 2 IAGP MGI PMID:20568247 NCBI chr 3:128,993,527...129,013,243
Ensembl chr 3:128,993,527...129,013,240 		JBrowse link
G Porcn porcupine O-acyltransferase IAGP MGI PMID:25451153 NCBI chr  X:8,060,085...8,072,794
Ensembl chr  X:8,060,087...8,072,764 		JBrowse link
G Pxdn peroxidasin IAGP MGI PMID:24895407 NCBI chr12:29,986,641...30,067,657
Ensembl chr12:29,987,607...30,067,657 		JBrowse link
G Slc24a5 solute carrier family 24, member 5 IAGP MGI PMID:18424845 NCBI chr 2:124,910,076...124,930,316
Ensembl chr 2:124,910,044...124,930,597 		JBrowse link
G Tsc1 TSC complex subunit 1 IAGP MGI PMID:28250050 NCBI chr 2:28,531,005...28,581,183
Ensembl chr 2:28,531,240...28,581,179 		JBrowse link
iris stroma hypoplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxc1 forkhead box C1 IAGP MGI PMID:10767326 NCBI chr13:31,990,629...31,994,618
Ensembl chr13:31,990,616...31,996,459 		JBrowse link
G Foxc2 forkhead box C2 IAGP MGI PMID:10767326 NCBI chr 8:121,842,910...121,845,634
Ensembl chr 8:121,842,910...121,845,634 		JBrowse link
G H2az2 H2A.Z histone variant 2 IAGP MGI PMID:20568247 NCBI chr11:6,377,226...6,394,511
Ensembl chr11:6,377,229...6,394,443 		JBrowse link
G Hoxa13 homeobox A13 IAGP MGI PMID:11543619 NCBI chr 6:52,235,833...52,237,865
Ensembl chr 6:52,234,674...52,237,788 		JBrowse link
G Hoxd13 homeobox D13 IAGP MGI PMID:11543619 NCBI chr 2:74,498,569...74,501,947
Ensembl chr 2:74,498,654...74,501,943 		JBrowse link
G Lgr4 leucine-rich repeat-containing G protein-coupled receptor 4 IAGP MGI PMID:18424556 NCBI chr 2:109,747,919...109,844,602
Ensembl chr 2:109,747,992...109,844,602 		JBrowse link
G Lmx1b LIM homeobox transcription factor 1 beta IAGP MGI PMID:20568247 NCBI chr 2:33,450,977...33,531,219
Ensembl chr 2:33,450,977...33,530,620 		JBrowse link
iris synechia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abhd11 abhydrolase domain containing 11 IAGP MGI PMID:32579589 NCBI chr 5:135,038,006...135,041,029
Ensembl chr 5:135,038,006...135,041,029 		JBrowse link
G Acadsb acyl-Coenzyme A dehydrogenase, short/branched chain IEA MGI NCBI chr 7:131,012,330...131,047,940
Ensembl chr 7:131,012,330...131,050,673 		JBrowse link
G Ahsg alpha-2-HS-glycoprotein IEA MGI NCBI chr16:22,710,793...22,718,193
Ensembl chr16:22,710,027...22,718,199 		JBrowse link
G Amotl2 angiomotin-like 2 IEA MGI NCBI chr 9:102,594,290...102,610,616
Ensembl chr 9:102,593,871...102,610,617 		JBrowse link
G Apmap adipocyte plasma membrane associated protein IEA MGI NCBI chr 2:150,425,000...150,450,487
Ensembl chr 2:150,425,000...150,450,487 		JBrowse link
G Awat2 acyl-CoA wax alcohol acyltransferase 2 IAGP MGI PMID:32851726 NCBI chr  X:99,445,827...99,537,885
Ensembl chr  X:99,445,827...99,486,323 		JBrowse link
G Bcar3 breast cancer anti-estrogen resistance 3 IAGP MGI PMID:19365570 NCBI chr 3:122,213,406...122,323,840
Ensembl chr 3:122,087,785...122,323,840 		JBrowse link
G Cenpj centromere protein J IAGP MGI PMID:23166506 NCBI chr14:56,764,218...56,812,950
Ensembl chr14:56,764,218...56,812,882 		JBrowse link
G Chic2 cysteine-rich hydrophobic domain 2 IEA MGI NCBI chr 5:75,165,665...75,205,302
Ensembl chr 5:75,158,649...75,205,435 		JBrowse link
G Cubn cubilin IEA MGI NCBI chr 2:13,281,149...13,496,687
Ensembl chr 2:13,281,149...13,496,624 		JBrowse link
G Foxc1 forkhead box C1 IAGP MGI PMID:12624268 NCBI chr13:31,990,629...31,994,618
Ensembl chr13:31,990,616...31,996,459 		JBrowse link
G Frem2 Fras1 related extracellular matrix protein 2 IAGP MGI PMID:30802441 NCBI chr 3:53,421,359...53,566,014
Ensembl chr 3:53,421,359...53,564,776 		JBrowse link
G Itfg2 integrin alpha FG-GAP repeat containing 2 IEA MGI NCBI chr 6:128,386,407...128,401,873
Ensembl chr 6:128,386,407...128,401,894 		JBrowse link
G Kcnv1 potassium channel, subfamily V, member 1 IEA MGI NCBI chr15:44,959,482...44,979,375
Ensembl chr15:44,969,680...44,978,316 		JBrowse link
G Mettl5 methyltransferase 5, N6-adenosine IEA MGI NCBI chr 2:69,701,539...69,717,961
Ensembl chr 2:69,701,542...69,715,959 		JBrowse link
G Myom2 myomesin 2 IEA MGI NCBI chr 8:15,107,653...15,183,410
Ensembl chr 8:15,107,653...15,183,541 		JBrowse link
G Rab10 RAB10, member RAS oncogene family IEA MGI NCBI chr12:3,297,428...3,359,969
Ensembl chr12:3,297,428...3,359,969 		JBrowse link
G Sag S-antigen, retina and pineal gland (arrestin) IEA MGI NCBI chr 1:87,731,402...87,772,880
Ensembl chr 1:87,731,402...87,772,880 		JBrowse link
G Sema3f sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F IEA MGI NCBI chr 9:107,558,698...107,587,674
Ensembl chr 9:107,558,699...107,587,674 		JBrowse link
G Taco1 translational activator of mitochondrially encoded cytochrome c oxidase I IEA MGI NCBI chr11:105,956,885...105,964,861
Ensembl chr11:105,956,887...105,964,438 		JBrowse link
G Tex2 testis expressed gene 2 IEA MGI NCBI chr11:106,392,965...106,504,259
Ensembl chr11:106,392,973...106,504,249 		JBrowse link
G Tfap2b transcription factor AP-2 beta IEA MGI NCBI chr 1:19,279,132...19,309,071
Ensembl chr 1:19,279,138...19,308,800 		JBrowse link
G Tssk4 testis-specific serine kinase 4 IEA MGI NCBI chr14:55,880,893...55,889,996
Ensembl chr14:55,887,641...55,889,996 		JBrowse link
G Tyr tyrosinase IAGP MGI PMID:12624268 NCBI chr 7:87,073,979...87,142,637
Ensembl chr 7:87,073,979...87,142,720 		JBrowse link
G Ube3b ubiquitin protein ligase E3B IEA MGI NCBI chr 5:114,518,578...114,559,226
Ensembl chr 5:114,518,668...114,559,230 		JBrowse link
G Zfp597 zinc finger protein 597 IEA MGI NCBI chr16:3,679,408...3,702,241
Ensembl chr16:3,676,185...3,702,425 		JBrowse link
irregularly shaped pupil term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamtsl4 ADAMTS-like 4 IEA MGI NCBI chr 3:95,583,511...95,595,232
Ensembl chr 3:95,583,511...95,595,228 		JBrowse link
G Bmp4 bone morphogenetic protein 4 IAGP MGI PMID:11722794 NCBI chr14:46,620,982...46,628,126
Ensembl chr14:46,620,977...46,628,126 		JBrowse link
G Bmpr1b bone morphogenetic protein receptor, type 1B IEA MGI NCBI chr 3:141,540,230...141,875,335
Ensembl chr 3:141,542,897...141,875,186 		JBrowse link
G Col18a1 collagen, type XVIII, alpha 1 IEA MGI NCBI chr10:76,888,013...77,002,351
Ensembl chr10:76,888,012...77,002,382 		JBrowse link
G Col4a1 collagen, type IV, alpha 1 IAGP MGI PMID:11929848 NCBI chr 8:11,248,423...11,362,889
Ensembl chr 8:11,248,423...11,362,826 		JBrowse link
G Col4a3 collagen, type IV, alpha 3 IEA MGI NCBI chr 1:82,564,647...82,699,778
Ensembl chr 1:82,564,642...82,699,780 		JBrowse link
G Efna5 ephrin A5 IEA MGI NCBI chr17:62,909,949...63,188,431
Ensembl chr17:62,911,179...63,188,312 		JBrowse link
G Elavl2 ELAV like RNA binding protein 1 IEA MGI NCBI chr 4:91,099,770...91,288,407
Ensembl chr 4:91,139,000...91,289,022 		JBrowse link
G Eps15l1 epidermal growth factor receptor pathway substrate 15-like 1 IEA MGI NCBI chr 8:73,094,834...73,175,410
Ensembl chr 8:73,094,839...73,175,304 		JBrowse link
G Fgf7 fibroblast growth factor 7 IEA MGI NCBI chr 2:125,876,578...125,933,105
Ensembl chr 2:125,876,578...125,933,105 		JBrowse link
G Flna filamin, alpha IAGP MGI PMID:16825286 NCBI chr  X:73,267,067...73,293,787
Ensembl chr  X:73,267,067...73,293,426 		JBrowse link
G Foxc1 forkhead box C1 IAGP MGI PMID:10767326 NCBI chr13:31,990,629...31,994,618
Ensembl chr13:31,990,616...31,996,459 		JBrowse link
G Gja1 gap junction protein, alpha 1 IAGP MGI PMID:16155213 NCBI chr10:56,253,297...56,266,519
Ensembl chr10:56,253,426...56,278,609 		JBrowse link
G H2az2 H2A.Z histone variant 2 IAGP MGI PMID:20568247 NCBI chr11:6,377,226...6,394,511
Ensembl chr11:6,377,229...6,394,443 		JBrowse link
G Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 IEA MGI NCBI chr18:50,261,268...50,329,337
Ensembl chr18:50,261,268...50,329,336 		JBrowse link
G Hsf4 heat shock transcription factor 4 IEA MGI NCBI chr 8:105,996,392...106,002,477
Ensembl chr 8:105,996,433...106,002,477 		JBrowse link
G Igsf9b immunoglobulin superfamily, member 9B IEA MGI NCBI chr 9:27,210,400...27,268,845
Ensembl chr 9:27,210,500...27,268,842 		JBrowse link
G Jag1 jagged 1 IAGP MGI PMID:10196361 NCBI chr 2:136,923,371...136,958,440
Ensembl chr 2:136,923,376...136,958,564 		JBrowse link
G Lmx1b LIM homeobox transcription factor 1 beta IAGP MGI PMID:10660670 PMID:11929848 PMID:20568247 NCBI chr 2:33,450,977...33,531,219
Ensembl chr 2:33,450,977...33,530,620 		JBrowse link
G Masp1 MBL associated serine protease 1 IEA MGI NCBI chr16:23,261,778...23,340,127
Ensembl chr16:23,268,167...23,339,565 		JBrowse link
G Med12l mediator complex subunit 12-like IEA MGI NCBI chr 3:58,912,820...59,225,867
Ensembl chr 3:58,913,246...59,226,103 		JBrowse link
G Ncald neurocalcin delta IEA MGI NCBI chr15:37,366,419...37,792,816
Ensembl chr15:37,366,419...37,792,814 		JBrowse link
G Nxn nucleoredoxin IEA MGI NCBI chr11:76,148,052...76,289,967
Ensembl chr11:76,148,024...76,289,966 		JBrowse link
G Pax6 paired box 6 IAGP MGI PMID:11779807 PMID:19563798 NCBI chr 2:105,499,241...105,528,755
Ensembl chr 2:105,499,245...105,527,709 		JBrowse link
G Pitx2 paired-like homeodomain transcription factor 2 IAGP MGI PMID:10499585 PMID:20568247 NCBI chr 3:128,993,527...129,013,243
Ensembl chr 3:128,993,527...129,013,240 		JBrowse link
G Pkig protein kinase inhibitor, gamma IEA MGI NCBI chr 2:163,500,306...163,568,078
Ensembl chr 2:163,500,306...163,568,078 		JBrowse link
G Pnn pinin IAGP MGI PMID:19892877 NCBI chr12:59,113,705...59,120,803
Ensembl chr12:59,113,670...59,120,784 		JBrowse link
G Podn podocan IEA MGI NCBI chr 4:107,871,990...107,889,544
Ensembl chr 4:107,871,988...107,889,534 		JBrowse link
G Ppfia3 protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3 IEA MGI NCBI chr 7:44,988,550...45,016,443
Ensembl chr 7:44,988,546...45,016,443 		JBrowse link
G Ppp2r5c protein phosphatase 2, regulatory subunit B', gamma IEA MGI NCBI chr12:110,413,532...110,549,509
Ensembl chr12:110,413,554...110,549,496 		JBrowse link
G Rnps1 RNA binding protein with serine rich domain 1 IEA MGI NCBI chr17:24,633,620...24,644,872
Ensembl chr17:24,633,539...24,644,875 		JBrowse link
G Sema3e sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E IEA MGI NCBI chr 5:14,075,290...14,306,703
Ensembl chr 5:14,075,290...14,306,703 		JBrowse link
G Sh3pxd2b SH3 and PX domains 2B IAGP MGI PMID:21282566 NCBI chr11:32,297,777...32,378,189
Ensembl chr11:32,297,820...32,378,173 		JBrowse link
G Slc20a2 solute carrier family 20, member 2 IEA MGI NCBI chr 8:22,966,771...23,059,632
Ensembl chr 8:22,966,804...23,059,628 		JBrowse link
G Slc44a1 solute carrier family 44, member 1 IEA MGI NCBI chr 4:53,440,387...53,622,478
Ensembl chr 4:53,440,413...53,622,478 		JBrowse link
G Sox2 SRY (sex determining region Y)-box 2 IEA MGI NCBI chr 3:34,704,144...34,706,610
Ensembl chr 3:34,704,554...34,706,610 		JBrowse link
G Ttc39c tetratricopeptide repeat domain 39C IEA MGI NCBI chr18:12,716,168...12,872,461
Ensembl chr18:12,732,953...12,871,920 		JBrowse link
G U2af1 U2 small nuclear ribonucleoprotein auxiliary factor (U2AF) 1 IEA MGI NCBI chr17:31,866,055...31,878,122
Ensembl chr17:31,866,055...31,877,866 		JBrowse link
G Ubl7 ubiquitin-like 7 (bone marrow stromal cell-derived) IEA MGI NCBI chr 9:57,818,280...57,837,624
Ensembl chr 9:57,818,262...57,837,251 		JBrowse link
G Usp50 ubiquitin specific peptidase 50 IEA MGI NCBI chr 2:126,602,970...126,625,380
Ensembl chr 2:126,551,016...126,625,390 		JBrowse link
G Wnt2b wingless-type MMTV integration site family, member 2B IEA MGI NCBI chr 3:104,852,121...104,869,025
Ensembl chr 3:104,852,588...104,869,237 		JBrowse link
miotic pupil term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ntrk1 neurotrophic tyrosine kinase, receptor, type 1 IAGP MGI PMID:8145823 NCBI chr 3:87,685,551...87,702,549
Ensembl chr 3:87,685,551...87,702,469 		JBrowse link
G Rab18 RAB18, member RAS oncogene family IAGP MGI PMID:24764192 NCBI chr18:6,765,167...6,791,606
Ensembl chr18:6,733,905...6,794,429 		JBrowse link
mydriasis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abhd17b abhydrolase domain containing 17B IEA MGI NCBI chr19:21,630,483...21,663,002
Ensembl chr19:21,630,549...21,663,001 		JBrowse link
G Aqp11 aquaporin 11 IEA MGI NCBI chr 7:97,375,586...97,387,454
Ensembl chr 7:97,373,213...97,387,496 		JBrowse link
G Bmp4 bone morphogenetic protein 4 IAGP MGI PMID:11722794 NCBI chr14:46,620,982...46,628,126
Ensembl chr14:46,620,977...46,628,126 		JBrowse link
G Catsperz cation channel sperm associated auxiliary subunit zeta IEA MGI NCBI chr19:6,899,794...6,902,748
Ensembl chr19:6,899,739...6,902,748 		JBrowse link
G Ccdc191 coiled-coil domain containing 191 IEA MGI NCBI chr16:43,710,172...43,784,677
Ensembl chr16:43,710,163...43,784,677 		JBrowse link
G Chrm2 cholinergic receptor, muscarinic 2, cardiac IAGP MGI PMID:12486155 NCBI chr 6:36,364,928...36,505,573
Ensembl chr 6:36,365,019...36,505,349 		JBrowse link
G Chrm3 cholinergic receptor, muscarinic 3, cardiac IAGP MGI PMID:10944224 PMID:12486155 NCBI chr13:9,925,522...10,411,131
Ensembl chr13:9,925,522...10,410,883 		JBrowse link
G Chrna3 cholinergic receptor, nicotinic, alpha polypeptide 3 IAGP MGI PMID:10318955 NCBI chr 9:54,917,401...54,933,846
Ensembl chr 9:54,917,395...54,933,846 		JBrowse link
G Chrnb2 cholinergic receptor nicotinic beta 2 subunit IAGP MGI PMID:10531434 NCBI chr 3:89,660,755...89,671,939
Ensembl chr 3:89,653,502...89,671,939 		JBrowse link
G Chrnb4 cholinergic receptor, nicotinic, beta polypeptide 4 IAGP MGI PMID:10531434 NCBI chr 9:54,935,438...54,956,236
Ensembl chr 9:54,935,438...54,956,063 		JBrowse link
G Dag1 dystroglycan 1 IAGP MGI PMID:19846701 NCBI chr 9:108,082,060...108,141,176
Ensembl chr 9:108,081,833...108,141,157 		JBrowse link
G Diaph3 diaphanous related formin 3 IEA MGI NCBI chr14:86,892,793...87,378,683
Ensembl chr14:86,892,803...87,378,671 		JBrowse link
G Dync1li1 dynein cytoplasmic 1 light intermediate chain 1 IEA MGI NCBI chr 9:114,517,899...114,552,856
Ensembl chr 9:114,517,858...114,553,370 		JBrowse link
G Emc8 ER membrane protein complex subunit 8 IEA MGI NCBI chr 8:121,380,653...121,394,826
Ensembl chr 8:121,380,653...121,395,312 		JBrowse link
G Fam163a family with sequence similarity 163, member A IEA MGI NCBI chr 1:155,951,702...156,033,027
Ensembl chr 1:155,951,712...156,032,596 		JBrowse link
G Fgf7 fibroblast growth factor 7 IEA MGI NCBI chr 2:125,876,578...125,933,105
Ensembl chr 2:125,876,578...125,933,105 		JBrowse link
G Flna filamin, alpha IAGP MGI PMID:11929848 NCBI chr  X:73,267,067...73,293,787
Ensembl chr  X:73,267,067...73,293,426 		JBrowse link
G Foxc1 forkhead box C1 IAGP MGI PMID:10767326 NCBI chr13:31,990,629...31,994,618
Ensembl chr13:31,990,616...31,996,459 		JBrowse link
G Grm6 glutamate receptor, metabotropic 6 IEA MGI NCBI chr11:50,741,205...50,757,035
Ensembl chr11:50,741,512...50,757,035 		JBrowse link
G Hps6 HPS6, biogenesis of lysosomal organelles complex 2 subunit 3 IEA MGI NCBI chr19:45,991,917...45,994,612
Ensembl chr19:45,991,947...45,994,612 		JBrowse link
G Jmjd1c jumonji domain containing 1C IEA MGI NCBI chr10:66,932,189...67,092,105
Ensembl chr10:66,931,904...67,092,105 		JBrowse link
G Lgr4 leucine-rich repeat-containing G protein-coupled receptor 4 IAGP MGI PMID:18424556 NCBI chr 2:109,747,919...109,844,602
Ensembl chr 2:109,747,992...109,844,602 		JBrowse link
G Lpcat1 lysophosphatidylcholine acyltransferase 1 IEA MGI NCBI chr13:73,615,332...73,664,539
Ensembl chr13:73,615,316...73,664,541 		JBrowse link
G Mitf melanogenesis associated transcription factor IAGP MGI PMID:11929848 NCBI chr 6:97,783,966...97,998,321
Ensembl chr 6:97,784,013...97,998,310 		JBrowse link
G Ncald neurocalcin delta IEA MGI NCBI chr15:37,366,419...37,792,816
Ensembl chr15:37,366,419...37,792,814 		JBrowse link
G Nrg1 neuregulin 1 IAGP MGI PMID:21949880 NCBI chr 8:32,299,493...33,381,858
Ensembl chr 8:32,304,579...33,374,825
Ensembl chr 8:32,304,579...33,374,825 		JBrowse link
G Pax6 paired box 6 IAGP MGI PMID:11983873 PMID:19563798 NCBI chr 2:105,499,241...105,528,755
Ensembl chr 2:105,499,245...105,527,709 		JBrowse link
G Pdc phosducin IAGP MGI PMID:19959875 NCBI chr 1:150,195,168...150,209,657
Ensembl chr 1:150,195,168...150,209,657 		JBrowse link
G Phox2b paired-like homeobox 2b IAGP MGI PMID:11929848 PMID:15150159 NCBI chr 5:67,251,751...67,256,399
Ensembl chr 5:67,251,742...67,256,644 		JBrowse link
G Sdc4 syndecan 4 IEA MGI NCBI chr 2:164,266,167...164,285,512
Ensembl chr 2:164,266,167...164,285,807 		JBrowse link
G Smoc1 SPARC related modular calcium binding 1 IEA MGI NCBI chr12:81,073,582...81,233,188
Ensembl chr12:81,073,582...81,233,188 		JBrowse link
G Trpm1 transient receptor potential cation channel, subfamily M, member 1 IEA MGI NCBI chr 7:63,803,583...63,923,630
Ensembl chr 7:63,803,583...63,919,523 		JBrowse link
G Tsc1 TSC complex subunit 1 IAGP MGI PMID:28250050 NCBI chr 2:28,531,005...28,581,183
Ensembl chr 2:28,531,240...28,581,179 		JBrowse link
G Vopp1 vesicular, overexpressed in cancer, prosurvival protein 1 IEA MGI NCBI chr 6:57,729,249...57,802,110
Ensembl chr 6:57,704,792...57,802,144 		JBrowse link
G Zfp329 zinc finger protein 329 IEA MGI NCBI chr 7:12,537,705...12,552,844
Ensembl chr 7:12,538,904...12,552,785 		JBrowse link
posterior iris synechia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Klf5 Kruppel-like transcription factor 5 IAGP MGI PMID:21600198 NCBI chr14:99,536,127...99,550,848
Ensembl chr14:99,536,127...99,552,472 		JBrowse link
G Sipa1l3 signal-induced proliferation-associated 1 like 3 IAGP MGI PMID:26231217 NCBI chr 7:29,016,687...29,218,694
Ensembl chr 7:29,019,797...29,218,066 		JBrowse link
pupil opacity term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prkci protein kinase C, iota IAGP MGI PMID:19835853 NCBI chr 3:31,049,893...31,106,889
Ensembl chr 3:31,049,896...31,107,108 		JBrowse link
small pupil term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cap2 cyclase associated actin cytoskeleton regulatory protein 2 IAGP MGI PMID:26616005 NCBI chr13:46,655,379...46,803,757
Ensembl chr13:46,655,324...46,803,757 		JBrowse link
G Cryge crystallin, gamma E IAGP MGI PMID:3209064 NCBI chr 1:65,087,716...65,090,783
Ensembl chr 1:65,087,713...65,090,308 		JBrowse link
G Foxe3 forkhead box E3 IAGP MGI PMID:109409 PMID:16199865 NCBI chr 4:114,781,640...114,783,264
Ensembl chr 4:114,782,344...114,783,210 		JBrowse link
G Klf4 Kruppel-like transcription factor 4 (gut) IAGP MGI PMID:17060454 NCBI chr 4:55,527,137...55,536,984
Ensembl chr 4:55,527,143...55,532,466 		JBrowse link
G Klf5 Kruppel-like transcription factor 5 IAGP MGI PMID:21600198 NCBI chr14:99,536,127...99,550,848
Ensembl chr14:99,536,127...99,552,472 		JBrowse link
G Maf MAF bZIP transcription factor IAGP MGI PMID:12620964 NCBI chr 8:116,429,992...116,433,633
Ensembl chr 8:116,409,681...116,434,533 		JBrowse link
G Ntrk1 neurotrophic tyrosine kinase, receptor, type 1 IAGP MGI PMID:36730190 NCBI chr 3:87,685,551...87,702,549
Ensembl chr 3:87,685,551...87,702,469 		JBrowse link
G Prkci protein kinase C, iota IAGP MGI PMID:19835853 NCBI chr 3:31,049,893...31,106,889
Ensembl chr 3:31,049,896...31,107,108 		JBrowse link
white pupil term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfh complement component factor h IAGP MGI PMID:28057640 NCBI chr 1:140,013,593...140,111,149
Ensembl chr 1:140,012,446...140,111,502 		JBrowse link
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  mammalian phenotype 17065
    vision/eye phenotype 3188
      abnormal eye morphology 3029
        abnormal uvea morphology 275
          abnormal anterior uvea morphology 226
            abnormal iris morphology 214
              abnormal iris pigment epithelium 10
              abnormal iris pigmentation + 32
              abnormal iris stroma morphology + 19
              abnormal iris transillumination 3
              abnormal pupil morphology + 96
              aniridia 6
              iridoschisis 0
              iris atrophy 2
              iris coloboma 14
              iris hyperplasia 3
              iris hypoplasia + 17
              iris synechia + 51
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