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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 eye pigmentation
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Accession:MP:0001324 term browser browse the term
Definition:change in the normal pigmentation of the eye to another color, or lack of color
Synonyms:exact_synonym: abnormal ocular pigmentation
 narrow_synonym: abnormal eye color;   abnormal eye colour


show annotations for term's descendants           Sort by:
abnormal eye pigmentation term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G a nonagouti IAGP MGI PMID:4634048 PMID:12548288 PMID:16578176 PMID:17247308 PMID:17247639 NCBI chr 2:154,792,519...154,892,932
Ensembl chr 2:154,633,322...154,892,932 		JBrowse link
G Ap3b1 adaptor-related protein complex 3, beta 1 subunit IAGP MGI PMID:11058094 NCBI chr13:94,492,332...94,702,838
Ensembl chr13:94,495,468...94,702,825 		JBrowse link
G Bloc1s3 biogenesis of lysosomal organelles complex-1, subunit 3 IAGP MGI PMID:7203014 NCBI chr 7:19,239,708...19,242,295
Ensembl chr 7:19,238,411...19,242,292 		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 Dph1 diphthamide biosynthesis 1 IAGP MGI PMID:14744934 NCBI chr11:75,068,469...75,081,309
Ensembl chr11:75,068,469...75,082,067 		JBrowse link
G Dtnbp1 dystrobrevin binding protein 1 IAGP MGI PMID:1936982 NCBI chr13:45,075,552...45,155,614
Ensembl chr13:45,075,551...45,155,623 		JBrowse link
G Ednrb endothelin receptor type B IAGP MGI PMID:13943454 NCBI chr14:104,052,055...104,081,764
Ensembl chr14:104,052,061...104,081,838 		JBrowse link
G Gt(ROSA)26Sor gene trap ROSA 26, Philippe Soriano IAGP MGI PMID:16203745 PMID:26113083 NCBI chr 6:113,044,389...113,054,205
Ensembl chr 6:113,043,843...113,055,336 		JBrowse link
G H2az2 H2A.Z histone variant 2 IAGP MGI PMID:16203745 NCBI chr11:6,377,226...6,394,511
Ensembl chr11:6,377,229...6,394,443 		JBrowse link
G Hps3 HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 IAGP MGI PMID:2379821 NCBI chr 3:20,050,109...20,089,478
Ensembl chr 3:20,050,109...20,089,479 		JBrowse link
G Hps4 HPS4, biogenesis of lysosomal organelles complex 3 subunit 2 IAGP MGI PMID:6031677 NCBI chr 5:112,490,849...112,526,290
Ensembl chr 5:112,490,949...112,526,280 		JBrowse link
G Hps5 HPS5, biogenesis of lysosomal organelles complex 2 subunit 2 IAGP MGI PMID:12548288 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:4634048 PMID:12548288 PMID:16578176 NCBI chr19:45,991,917...45,994,612
Ensembl chr19:45,991,947...45,994,612 		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 Kit KIT proto-oncogene receptor tyrosine kinase IAGP MGI PMID:17246829 NCBI chr 5:75,735,647...75,817,382
Ensembl chr 5:75,735,576...75,817,382 		JBrowse link
G Lgi1 leucine-rich repeat LGI family, member 1 IAGP MGI PMID:20130004 NCBI chr19:38,253,135...38,297,387
Ensembl chr19:38,252,984...38,300,662 		JBrowse link
G Lyst lysosomal trafficking regulator IAGP MGI PMID:13943454 NCBI chr13:13,764,896...13,953,388
Ensembl chr13:13,764,982...13,953,388 		JBrowse link
G Mcph1 microcephaly, primary autosomal recessive 1 IEA MGI NCBI chr 8:18,645,132...18,858,110
Ensembl chr 8:18,645,147...18,853,205 		JBrowse link
G Mitf melanogenesis associated transcription factor IAGP MGI PMID:8776879 PMID:8947051 NCBI chr 6:97,783,966...97,998,321
Ensembl chr 6:97,784,013...97,998,310 		JBrowse link
G Mreg melanoregulin IAGP MGI PMID:2379821 NCBI chr 1:72,198,392...72,251,418
Ensembl chr 1:72,198,601...72,251,466 		JBrowse link
G Myo5a myosin VA IAGP MGI PMID:2379821 PMID:17247308 NCBI chr 9:74,975,183...75,130,970
Ensembl chr 9:74,978,297...75,130,970 		JBrowse link
G Ncoa6 nuclear receptor coactivator 6 IAGP MGI PMID:12446700 NCBI chr 2:155,232,585...155,315,741
Ensembl chr 2:155,232,576...155,315,814 		JBrowse link
G Oca2 oculocutaneous albinism II IAGP MGI PMID:1673574 PMID:8575552 PMID:13943454 NCBI chr 7:55,889,341...56,186,266
Ensembl chr 7:55,889,508...56,186,266 		JBrowse link
G Pdpk1 3-phosphoinositide dependent protein kinase 1 IAGP MGI PMID:16219676 NCBI chr17:24,292,654...24,370,957
Ensembl chr17:24,292,654...24,369,898 		JBrowse link
G Pitx2 paired-like homeodomain transcription factor 2 IAGP MGI PMID:16203745 NCBI chr 3:128,993,527...129,013,243
Ensembl chr 3:128,993,527...129,013,240 		JBrowse link
G Prom1 prominin 1 IEA MGI NCBI chr 5:44,150,963...44,260,850
Ensembl chr 5:44,150,962...44,259,374 		JBrowse link
G Rab38 RAB38, member RAS oncogene family IAGP MGI PMID:11917121 NCBI chr 7:88,079,481...88,140,780
Ensembl chr 7:88,079,481...88,140,780 		JBrowse link
G Slc45a2 solute carrier family 45, member 2 IAGP MGI PMID:9864865 NCBI chr15:11,000,807...11,029,319
Ensembl chr15:11,000,807...11,029,319 		JBrowse link
G Spns2 SPNS lysolipid transporter 2, sphingosine-1-phosphate IAGP MGI PMID:22664872 PMID:24652767 NCBI chr11:72,342,464...72,380,797
Ensembl chr11:72,342,464...72,380,730 		JBrowse link
G Tyr tyrosinase IAGP MGI PMID:15572362 PMID:20130004 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:17247639 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:12538872 NCBI chr 5:123,666,820...123,711,104
Ensembl chr 5:123,666,722...123,711,101 		JBrowse link
abnormal choroid melanin granule morphology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G a nonagouti IAGP MGI PMID:4634048 NCBI chr 2:154,792,519...154,892,932
Ensembl chr 2:154,633,322...154,892,932 		JBrowse link
G Dtnbp1 dystrobrevin binding protein 1 IAGP MGI PMID:12923531 NCBI chr13:45,075,552...45,155,614
Ensembl chr13:45,075,551...45,155,623 		JBrowse link
G Kxd1 KxDL motif containing 1 IAGP MGI PMID:22554196 NCBI chr 8:70,966,046...70,975,830
Ensembl chr 8:70,960,922...70,980,606 		JBrowse link
G Lyst lysosomal trafficking regulator IAGP MGI PMID:4634048 NCBI chr13:13,764,896...13,953,388
Ensembl chr13:13,764,982...13,953,388 		JBrowse link
G Mlph melanophilin IAGP MGI PMID:4634048 NCBI chr 1:90,842,750...90,878,864
Ensembl chr 1:90,842,807...90,878,864 		JBrowse link
G Myo5a myosin VA IAGP MGI PMID:4634048 NCBI chr 9:74,975,183...75,130,970
Ensembl chr 9:74,978,297...75,130,970 		JBrowse link
G Oca2 oculocutaneous albinism II IAGP MGI PMID:4634048 NCBI chr 7:55,889,341...56,186,266
Ensembl chr 7:55,889,508...56,186,266 		JBrowse link
G Pmel premelanosome protein IAGP MGI PMID:21949658 NCBI chr10:128,531,757...128,555,993
Ensembl chr10:128,540,064...128,556,107 		JBrowse link
G Tyr tyrosinase IAGP MGI PMID:4634048 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:4634048 NCBI chr 4:80,752,360...80,769,973
Ensembl chr 4:80,752,360...80,769,956 		JBrowse link
abnormal choroid melanocyte morphology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ece1 endothelin converting enzyme 1 IAGP MGI PMID:9449665 NCBI chr 4:137,589,548...137,692,540
Ensembl chr 4:137,589,548...137,692,540 		JBrowse link
abnormal choroid pigmentation term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G a nonagouti IAGP MGI PMID:12548288 NCBI chr 2:154,792,519...154,892,932
Ensembl chr 2:154,633,322...154,892,932 		JBrowse link
G Bloc1s4 biogenesis of lysosomal organelles complex-1, subunit 4, cappuccino IAGP MGI PMID:11110696 NCBI chr 5:36,904,718...36,906,023
Ensembl chr 5:36,904,722...36,905,994 		JBrowse link
G Ednrb endothelin receptor type B IAGP MGI PMID:8001159 NCBI chr14:104,052,055...104,081,764
Ensembl chr14:104,052,061...104,081,838 		JBrowse link
G Gt(ROSA)26Sor gene trap ROSA 26, Philippe Soriano IAGP MGI PMID:26113083 NCBI chr 6:113,044,389...113,054,205
Ensembl chr 6:113,043,843...113,055,336 		JBrowse link
G Hps1 HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 IAGP MGI PMID:9256466 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:11707070 NCBI chr 3:20,050,109...20,089,478
Ensembl chr 3:20,050,109...20,089,479 		JBrowse link
G Hps4 HPS4, biogenesis of lysosomal organelles complex 3 subunit 2 IAGP MGI PMID:11836498 NCBI chr 5:112,490,849...112,526,290
Ensembl chr 5:112,490,949...112,526,280 		JBrowse link
G Hps5 HPS5, biogenesis of lysosomal organelles complex 2 subunit 2 IAGP MGI PMID:12548288 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:12548288 NCBI chr19:45,991,917...45,994,612
Ensembl chr19:45,991,947...45,994,612 		JBrowse link
G Lyst lysosomal trafficking regulator IAGP MGI PMID:13943454 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:8947051 NCBI chr 6:97,783,966...97,998,321
Ensembl chr 6:97,784,013...97,998,310 		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 Vps33a VPS33A CORVET/HOPS core subunit IAGP MGI PMID:9585243 NCBI chr 5:123,666,820...123,711,104
Ensembl chr 5:123,666,722...123,711,101 		JBrowse link
abnormal ciliary body pigmentation term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 Hps1 HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 IAGP MGI PMID:102659 NCBI chr19:42,743,629...42,770,013
Ensembl chr19:42,743,544...42,768,417 		JBrowse link
G Lyst lysosomal trafficking regulator IAGP MGI PMID:13943454 NCBI chr13:13,764,896...13,953,388
Ensembl chr13:13,764,982...13,953,388 		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
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 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 retina melanin granule morphology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G a nonagouti IAGP MGI PMID:4634048 NCBI chr 2:154,792,519...154,892,932
Ensembl chr 2:154,633,322...154,892,932 		JBrowse link
G Bace2 beta-site APP-cleaving enzyme 2 IAGP MGI PMID:23754390 NCBI chr16:97,157,928...97,244,136
Ensembl chr16:97,157,942...97,244,136 		JBrowse link
G Bloc1s6 biogenesis of lysosomal organelles complex-1, subunit 6, pallidin IAGP MGI PMID:4634048 NCBI chr 2:122,580,425...122,591,407
Ensembl chr 2:122,580,423...122,591,395 		JBrowse link
G Dct dopachrome tautomerase IAGP MGI PMID:33100333 NCBI chr14:118,250,202...118,289,658
Ensembl chr14:118,250,202...118,289,656 		JBrowse link
G Hps6 HPS6, biogenesis of lysosomal organelles complex 2 subunit 3 IAGP MGI PMID:4634048 NCBI chr19:45,991,917...45,994,612
Ensembl chr19:45,991,947...45,994,612 		JBrowse link
G Kxd1 KxDL motif containing 1 IAGP MGI PMID:22554196 NCBI chr 8:70,966,046...70,975,830
Ensembl chr 8:70,960,922...70,980,606 		JBrowse link
G Lyst lysosomal trafficking regulator IAGP MGI PMID:4634048 NCBI chr13:13,764,896...13,953,388
Ensembl chr13:13,764,982...13,953,388 		JBrowse link
G Pmel premelanosome protein IAGP MGI PMID:21949658 NCBI chr10:128,531,757...128,555,993
Ensembl chr10:128,540,064...128,556,107 		JBrowse link
G Stra6 stimulated by retinoic acid gene 6 IAGP MGI PMID:24852372 NCBI chr 9:57,971,076...58,061,287
Ensembl chr 9:57,971,071...58,061,279 		JBrowse link
G Tyr tyrosinase IAGP MGI PMID:4634048 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:4634048 NCBI chr 4:80,752,360...80,769,973
Ensembl chr 4:80,752,360...80,769,956 		JBrowse link
abnormal retina melanocyte morphology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tpcn2 two pore segment channel 2 IAGP MGI PMID:36641477 NCBI chr 7:144,735,370...144,837,743
Ensembl chr 7:144,740,261...144,837,748 		JBrowse link
abnormal retina pigment epithelium morphology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP-binding cassette, sub-family A member 4 IAGP MGI PMID:10412977 PMID:18515570 PMID:19494204 PMID:29145636 NCBI chr 3:121,837,547...121,973,719
Ensembl chr 3:121,838,092...121,973,772 		JBrowse link
G Abcb5 ATP-binding cassette, sub-family B member 5 IAGP MGI PMID:25030174 NCBI chr12:118,831,221...118,930,169
Ensembl chr12:118,831,559...118,930,156 		JBrowse link
G Adam9 ADAM metallopeptidase domain 9 IAGP MGI PMID:19409519 NCBI chr 8:25,439,627...25,507,138
Ensembl chr 8:25,439,627...25,506,943 		JBrowse link
G Adamtsl4 ADAMTS-like 4 IAGP MGI PMID:26405179 NCBI chr 3:95,583,511...95,595,232
Ensembl chr 3:95,583,511...95,595,228 		JBrowse link
G Ap3d1 adaptor-related protein complex 3, delta 1 subunit IAGP MGI PMID:1912584 NCBI chr10:80,542,790...80,578,137
Ensembl chr10:80,542,790...80,578,098 		JBrowse link
G Apob apolipoprotein B IAGP MGI PMID:18385042 NCBI chr12:8,027,629...8,066,839
Ensembl chr12:8,027,648...8,066,835 		JBrowse link
G Apoe apolipoprotein E IAGP MGI PMID:16079201 NCBI chr 7:19,430,169...19,434,326
Ensembl chr 7:19,430,034...19,433,113 		JBrowse link
G Atf6 activating transcription factor 6 IAGP MGI PMID:26029869 NCBI chr 1:170,532,026...170,696,414
Ensembl chr 1:170,532,243...170,695,340 		JBrowse link
G Atp8a2 ATPase, aminophospholipid transporter-like, class I, type 8A, member 2 IAGP MGI PMID:24413176 NCBI chr14:59,884,980...60,324,363
Ensembl chr14:59,875,989...60,434,628 		JBrowse link
G Bbs4 Bardet-Biedl syndrome 4 IAGP MGI PMID:16794820 NCBI chr 9:59,229,249...59,260,791
Ensembl chr 9:59,229,273...59,260,791 		JBrowse link
G Best1 bestrophin 1 IAGP MGI PMID:20053664 NCBI chr19:9,962,536...9,978,997
Ensembl chr19:9,962,538...9,978,997 		JBrowse link
G Bloc1s5 biogenesis of lysosomal organelles complex-1, subunit 5, muted IAGP MGI PMID:1912584 NCBI chr13:38,786,674...38,821,093
Ensembl chr13:38,776,818...38,819,085 		JBrowse link
G Bmp7 bone morphogenetic protein 7 IAGP MGI PMID:9013703 NCBI chr 2:172,709,805...172,782,114
Ensembl chr 2:172,709,805...172,782,114 		JBrowse link
G Bmpr1a bone morphogenetic protein receptor, type 1A IAGP MGI PMID:15673568 NCBI chr14:34,133,018...34,225,335
Ensembl chr14:34,132,691...34,225,298 		JBrowse link
G Bmpr1b bone morphogenetic protein receptor, type 1B IAGP MGI PMID:15673568 NCBI chr 3:141,540,230...141,875,335
Ensembl chr 3:141,542,897...141,875,186 		JBrowse link
G C1qtnf5 C1q and tumor necrosis factor related protein 5 IAGP MGI PMID:21349921 NCBI chr 9:44,013,067...44,020,484
Ensembl chr 9:44,018,542...44,020,484 		JBrowse link
G C3ar1 complement component 3a receptor 1 IAGP MGI PMID:23074214 NCBI chr 6:122,824,099...122,833,116
Ensembl chr 6:122,824,097...122,833,120 		JBrowse link
G C5ar1 complement component 5a receptor 1 IAGP MGI PMID:23074214 NCBI chr 7:15,980,668...15,993,465
Ensembl chr 7:15,980,668...15,993,465 		JBrowse link
G Casp3 caspase 3 IAGP MGI PMID:14985318 NCBI chr 8:47,070,326...47,092,733
Ensembl chr 8:47,070,326...47,092,724 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 IAGP MGI PMID:14566334 PMID:17652758 NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279 		JBrowse link
G Ccr2 C-C motif chemokine receptor 2 IAGP MGI PMID:14566334 NCBI chr 9:123,901,954...123,913,594
Ensembl chr 9:123,901,987...123,913,594 		JBrowse link
G Cd46 CD46 antigen, complement regulatory protein IAGP MGI PMID:27295359 NCBI chr 1:194,721,279...194,781,149
Ensembl chr 1:194,719,134...194,774,557 		JBrowse link
G Cdk20 cyclin dependent kinase 20 IAGP MGI PMID:28817564 NCBI chr13:64,580,133...64,587,536
Ensembl chr13:64,580,128...64,589,587 		JBrowse link
G Cdkn1b cyclin dependent kinase inhibitor 1B IAGP MGI PMID:8646779 NCBI chr 6:134,897,364...134,902,488
Ensembl chr 6:134,897,364...134,902,476 		JBrowse link
G Cep290 centrosomal protein 290 IAGP MGI PMID:16632484 NCBI chr10:100,323,410...100,409,527
Ensembl chr10:100,323,420...100,410,702 		JBrowse link
G Cerkl ceramide kinase-like IAGP MGI PMID:32658961 NCBI chr 2:79,162,835...79,259,332
Ensembl chr 2:79,160,887...79,287,129 		JBrowse link
G Cfh complement component factor h IAGP MGI PMID:17921253 NCBI chr 1:140,013,593...140,111,149
Ensembl chr 1:140,012,446...140,111,502 		JBrowse link
G Chm CHM Rab escort protein IAGP MGI PMID:16410831 NCBI chr  X:111,950,289...112,095,236
Ensembl chr  X:111,950,290...112,095,214 		JBrowse link
G Chrna7 cholinergic receptor, nicotinic, alpha polypeptide 7 IAGP MGI PMID:22473653 NCBI chr 7:62,748,440...62,862,274
Ensembl chr 7:62,748,440...62,862,317 		JBrowse link
G Clcn2 chloride channel, voltage-sensitive 2 IAGP MGI PMID:20071672 PMID:28859131 NCBI chr16:20,521,185...20,536,496
Ensembl chr16:20,521,714...20,536,496 		JBrowse link
G Clcn7 chloride channel, voltage-sensitive 7 IAGP MGI PMID:20448277 NCBI chr17:25,352,353...25,381,077
Ensembl chr17:25,352,365...25,381,078 		JBrowse link
G Cln8 CLN8 transmembrane ER and ERGIC protein IAGP MGI PMID:8282051 NCBI chr 8:14,931,335...14,951,720
Ensembl chr 8:14,931,335...14,951,720 		JBrowse link
G Cngb1 cyclic nucleotide gated channel beta 1 IEA MGI NCBI chr 8:95,965,671...96,033,213
Ensembl chr 8:95,965,673...96,033,213 		JBrowse link
G Cp ceruloplasmin IAGP MGI PMID:15365174 PMID:18326691 PMID:22342521 NCBI chr 3:20,011,097...20,063,914
Ensembl chr 3:20,011,218...20,063,309 		JBrowse link
G Crb1 crumbs family member 1, photoreceptor morphogenesis associated IAGP MGI PMID:22447858 PMID:30372741 NCBI chr 1:139,101,288...139,307,262
Ensembl chr 1:139,124,794...139,304,838 		JBrowse link
G Crb2 crumbs family member 2 IAGP MGI PMID:23001562 PMID:24493795 NCBI chr 2:37,666,238...37,689,115
Ensembl chr 2:37,666,261...37,689,115 		JBrowse link
G Cryba1 crystallin, beta A1 IAGP MGI PMID:24468901 PMID:25257511 NCBI chr11:77,609,440...77,616,119
Ensembl chr11:77,609,441...77,616,109 		JBrowse link
G Ctnna1 catenin alpha 1 IAGP MGI PMID:26691986 NCBI chr18:35,251,955...35,387,829
Ensembl chr18:35,251,912...35,387,832 		JBrowse link
G Cx3cr1 C-X3-C motif chemokine receptor 1 IAGP MGI PMID:17652758 NCBI chr 9:119,877,749...119,897,362
Ensembl chr 9:119,877,749...119,898,945 		JBrowse link
G Cyp4v3 cytochrome P450, family 4, subfamily v, polypeptide 3 IAGP MGI PMID:35230417 NCBI chr 8:45,758,838...45,786,200
Ensembl chr 8:45,757,981...45,786,253 		JBrowse link
G Dhdds dehydrodolichyl diphosphate synthase IAGP MGI PMID:32245241 NCBI chr 4:133,696,339...133,728,267
Ensembl chr 4:133,696,339...133,728,229 		JBrowse link
G Dtnbp1 dystrobrevin binding protein 1 IAGP MGI PMID:12923531 NCBI chr13:45,075,552...45,155,614
Ensembl chr13:45,075,551...45,155,623 		JBrowse link
G Efemp1 epidermal growth factor-containing fibulin-like extracellular matrix protein 1 IAGP MGI PMID:17664227 PMID:17666404 NCBI chr11:28,803,154...28,876,743
Ensembl chr11:28,803,204...28,876,743 		JBrowse link
G Elovl4 ELOVL fatty acid elongase 4 IAGP MGI PMID:17003453 PMID:17356513 NCBI chr 9:83,660,745...83,688,358
Ensembl chr 9:83,660,745...83,688,330 		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 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 Gnpat glyceronephosphate O-acyltransferase IAGP MGI PMID:12874108 NCBI chr 8:125,589,772...125,616,796
Ensembl chr 8:125,589,772...125,616,796 		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 Gt(ROSA)26Sor gene trap ROSA 26, Philippe Soriano IAGP MGI PMID:19850870 PMID:21552476 PMID:22473653 PMID:23136411 PMID:29257745 NCBI chr 6:113,044,389...113,054,205
Ensembl chr 6:113,043,843...113,055,336 		JBrowse link
G Heph hephaestin IAGP MGI PMID:15365174 PMID:18326691 PMID:22342521 NCBI chr  X:95,499,042...95,618,091
Ensembl chr  X:95,498,965...95,618,091 		JBrowse link
G Hps4 HPS4, biogenesis of lysosomal organelles complex 3 subunit 2 IAGP MGI PMID:11836498 NCBI chr 5:112,490,849...112,526,290
Ensembl chr 5:112,490,949...112,526,280 		JBrowse link
G Hps5 HPS5, biogenesis of lysosomal organelles complex 2 subunit 2 IAGP MGI PMID:12548288 NCBI chr 7:46,409,890...46,445,501
Ensembl chr 7:46,409,890...46,445,488 		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 Jak3 Janus kinase 3 IAGP MGI PMID:30372741 NCBI chr 8:72,129,027...72,143,221
Ensembl chr 8:72,128,940...72,143,219 		JBrowse link
G Ldlr low density lipoprotein receptor IAGP MGI PMID:18172117 PMID:18385042 NCBI chr 9:21,634,872...21,661,215
Ensembl chr 9:21,634,779...21,661,215 		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 Lrp5 low density lipoprotein receptor-related protein 5 IEA MGI NCBI chr19:3,634,825...3,736,574
Ensembl chr19:3,634,828...3,736,564 		JBrowse link
G Lyst lysosomal trafficking regulator IAGP MGI PMID:16518687 NCBI chr13:13,764,896...13,953,388
Ensembl chr13:13,764,982...13,953,388 		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 Mab21l2 mab-21-like 2 IAGP MGI PMID:15385160 NCBI chr 3:86,453,357...86,455,590
Ensembl chr 3:86,452,888...86,455,590 		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 Mdm1 MDM1 nuclear protein IAGP MGI PMID:18805803 NCBI chr10:117,977,446...118,004,904
Ensembl chr10:117,977,716...118,004,902 		JBrowse link
G Mertk MER proto-oncogene tyrosine kinase IAGP MGI PMID:12556419 PMID:16901715 NCBI chr 2:128,540,836...128,645,082
Ensembl chr 2:128,540,876...128,644,814 		JBrowse link
G Mfrp membrane frizzled-related protein IAGP MGI PMID:21810984 NCBI chr 9:44,013,067...44,020,484
Ensembl chr 9:44,013,026...44,020,484 		JBrowse link
G Mfsd2a MFSD2 lysolipid transporter A, lysophospholipid IAGP MGI PMID:27008858 NCBI chr 4:122,840,643...122,855,844
Ensembl chr 4:122,840,643...122,854,981 		JBrowse link
G Mitf melanogenesis associated transcription factor IAGP MGI PMID:4963367 PMID:8631625 PMID:8947051 PMID:22792072 NCBI chr 6:97,783,966...97,998,321
Ensembl chr 6:97,784,013...97,998,310 		JBrowse link
G Msi1 musashi RNA-binding protein 1 IAGP MGI PMID:18662689 NCBI chr 5:115,567,734...115,593,757
Ensembl chr 5:115,567,658...115,593,757 		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 Myo7a myosin VIIA IAGP MGI PMID:20016096 NCBI chr 7:97,700,261...97,768,730
Ensembl chr 7:97,700,267...97,768,731 		JBrowse link
G Naglu alpha-N-acetylglucosaminidase (Sanfilippo disease IIIB) IAGP MGI PMID:17712420 NCBI chr11:100,960,918...100,968,483
Ensembl chr11:100,960,838...100,968,498 		JBrowse link
G Nr2f1 nuclear receptor subfamily 2, group F, member 1 IAGP MGI PMID:20147377 NCBI chr13:78,337,090...78,346,954
Ensembl chr13:78,337,092...78,347,876 		JBrowse link
G Nr2f2 nuclear receptor subfamily 2, group F, member 2 IAGP MGI PMID:20147377 NCBI chr 7:70,001,694...70,016,494
Ensembl chr 7:70,001,692...70,016,483 		JBrowse link
G Nrl neural retina leucine zipper gene IAGP MGI PMID:21659555 NCBI chr14:55,756,973...55,762,438
Ensembl chr14:55,756,435...55,762,438 		JBrowse link
G Nuak1 NUAK family, SNF1-like kinase, 1 IAGP MGI PMID:22689267 NCBI chr10:84,206,764...84,282,028
Ensembl chr10:84,206,769...84,276,461 		JBrowse link
G Nuak2 NUAK family, SNF1-like kinase, 2 IAGP MGI PMID:22689267 NCBI chr 1:132,243,827...132,261,233
Ensembl chr 1:132,243,864...132,261,226 		JBrowse link
G Oat ornithine aminotransferase IAGP MGI PMID:7550347 PMID:10655512 NCBI chr 7:132,159,204...132,178,127
Ensembl chr 7:132,159,207...132,178,127 		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 Pax2 paired box 2 IAGP MGI PMID:20221250 NCBI chr19:44,735,040...44,826,708
Ensembl chr19:44,735,057...44,826,310 		JBrowse link
G Pax6 paired box 6 IAGP MGI PMID:103464 PMID:4972360 PMID:19563798 PMID:22792072 NCBI chr 2:105,499,241...105,528,755
Ensembl chr 2:105,499,245...105,527,709 		JBrowse link
G Pcare photoreceptor cilium actin regulator IAGP MGI PMID:25616964 NCBI chr17:72,050,919...72,059,904
Ensembl chr17:72,050,550...72,059,889 		JBrowse link
G Pdgfb platelet derived growth factor, B polypeptide IAGP MGI PMID:12897053 NCBI chr15:79,880,066...79,899,178
Ensembl chr15:79,880,075...79,899,178 		JBrowse link
G Phactr4 phosphatase and actin regulator 4 IAGP MGI PMID:17609112 NCBI chr 4:132,083,233...132,149,765
Ensembl chr 4:132,083,234...132,149,800 		JBrowse link
G Pknox1 Pbx/knotted 1 homeobox IAGP MGI PMID:16847320 NCBI chr17:31,783,697...31,826,665
Ensembl chr17:31,783,708...31,826,667 		JBrowse link
G Ppargc1a peroxisome proliferative activated receptor, gamma, coactivator 1 alpha IAGP MGI PMID:29925537 NCBI chr 5:51,611,591...52,273,316
Ensembl chr 5:51,611,592...51,725,068 		JBrowse link
G Ppt2 palmitoyl-protein thioesterase 2 IAGP MGI PMID:14528005 NCBI chr17:34,835,636...34,856,993
Ensembl chr17:34,835,636...34,847,484 		JBrowse link
G Prcd photoreceptor disc component IAGP MGI PMID:31189593 NCBI chr11:116,544,603...116,559,224
Ensembl chr11:116,544,360...116,559,215 		JBrowse link
G Prom1 prominin 1 IAGP MGI PMID:19228982 NCBI chr 5:44,150,963...44,260,850
Ensembl chr 5:44,150,962...44,259,374 		JBrowse link
G Prpf3 pre-mRNA processing factor 3 IAGP MGI PMID:20811066 NCBI chr 3:95,737,436...95,763,197
Ensembl chr 3:95,737,436...95,763,197 		JBrowse link
G Prpf31 pre-mRNA processing factor 31 IAGP MGI PMID:20811066 NCBI chr 7:3,632,984...3,645,484
Ensembl chr 7:3,632,984...3,645,485 		JBrowse link
G Prpf8 pre-mRNA processing factor 8 IAGP MGI PMID:20811066 NCBI chr11:75,377,603...75,400,273
Ensembl chr11:75,377,642...75,400,275 		JBrowse link
G Prph2 peripherin 2 IAGP MGI PMID:3830736 PMID:7440795 PMID:11978760 PMID:37914688 NCBI chr17:47,221,404...47,235,859
Ensembl chr17:47,221,385...47,235,859 		JBrowse link
G Rb1cc1 RB1-inducible coiled-coil 1 IAGP MGI PMID:26075877 NCBI chr 1:6,284,858...6,346,599
Ensembl chr 1:6,276,421...6,346,872 		JBrowse link
G Rbp1 retinol binding protein 1, cellular IAGP MGI PMID:10487743 NCBI chr 9:98,305,014...98,328,604
Ensembl chr 9:98,305,014...98,328,628 		JBrowse link
G Rbp4 retinol binding protein 4, plasma IAGP MGI PMID:26974396 NCBI chr19:38,105,068...38,113,769
Ensembl chr19:38,105,077...38,113,729 		JBrowse link
G Rdh8 retinol dehydrogenase 8 IAGP MGI PMID:19494204 NCBI chr 9:20,729,790...20,739,354
Ensembl chr 9:20,729,799...20,737,413 		JBrowse link
G Rho rhodopsin IAGP MGI PMID:20207741 PMID:28859131 NCBI chr 6:115,903,741...115,916,999
Ensembl chr 6:115,908,709...115,916,997 		JBrowse link
G Rpe65 retinal pigment epithelium 65 IAGP MGI PMID:17933883 NCBI chr 3:159,304,712...159,330,944
Ensembl chr 3:159,304,812...159,330,958 		JBrowse link
G Rs1 retinoschisis (X-linked, juvenile) 1 (human) IEA MGI NCBI chr  X:159,548,815...159,584,800
Ensembl chr  X:159,551,009...159,582,659 		JBrowse link
G Rxra retinoid X receptor alpha IAGP MGI PMID:14742273 NCBI chr 2:27,566,457...27,653,331
Ensembl chr 2:27,566,452...27,652,969 		JBrowse link
G Sema4a sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A IAGP MGI PMID:15277503 PMID:23360997 NCBI chr 3:88,343,266...88,368,500
Ensembl chr 3:88,343,266...88,368,489 		JBrowse link
G Serpinc1 serine (or cysteine) peptidase inhibitor, clade C (antithrombin), member 1 IAGP MGI PMID:14592998 NCBI chr 1:160,806,153...160,830,113
Ensembl chr 1:160,806,155...160,833,433 		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 Slc4a5 solute carrier family 4, sodium bicarbonate cotransporter, member 5 IAGP MGI PMID:35216333 NCBI chr 6:83,184,561...83,281,927
Ensembl chr 6:83,196,810...83,281,927 		JBrowse link
G Smoc1 SPARC related modular calcium binding 1 IAGP MGI PMID:21194678 PMID:21750680 NCBI chr12:81,073,582...81,233,188
Ensembl chr12:81,073,582...81,233,188 		JBrowse link
G Sod2 superoxide dismutase 2, mitochondrial IAGP MGI PMID:11527927 PMID:24985474 NCBI chr17:13,226,726...13,237,006
Ensembl chr17:13,225,733...13,258,950 		JBrowse link
G Stra6 stimulated by retinoic acid gene 6 IAGP MGI PMID:23839944 PMID:24852372 NCBI chr 9:57,971,076...58,061,287
Ensembl chr 9:57,971,071...58,061,279 		JBrowse link
G Supt20 SPT20 SAGA complex component IAGP MGI PMID:16751104 NCBI chr 3:54,600,181...54,636,184
Ensembl chr 3:54,600,228...54,636,187 		JBrowse link
G Tbc1d32 TBC1 domain family, member 32 IAGP MGI PMID:20159594 NCBI chr10:55,890,389...56,106,495
Ensembl chr10:55,890,389...56,104,785 		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
G Timp3 tissue inhibitor of metalloproteinase 3 IAGP MGI PMID:12147610 NCBI chr10:86,136,276...86,185,369
Ensembl chr10:86,136,236...86,185,370 		JBrowse link
G Tlr4 toll-like receptor 4 IAGP MGI PMID:18981228 NCBI chr 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521 		JBrowse link
G Top2b topoisomerase (DNA) II beta IAGP MGI PMID:28370415 NCBI chr14:6,038,976...6,104,585
Ensembl chr14:6,034,301...6,104,584 		JBrowse link
G Tub TUB bipartite transcription factor IAGP MGI PMID:7479945 NCBI chr 7:108,610,087...108,633,666
Ensembl chr 7:108,549,545...108,633,667 		JBrowse link
G Tulp1 TUB like protein 1 IAGP MGI PMID:10607826 NCBI chr17:28,570,489...28,584,190
Ensembl chr17:28,570,489...28,584,196 		JBrowse link
G Ube3d ubiquitin protein ligase E3D IAGP MGI PMID:25872646 NCBI chr 9:86,189,364...86,347,003
Ensembl chr 9:86,189,359...86,347,003 		JBrowse link
G Unc119 unc-119 lipid binding chaperone IAGP MGI PMID:17174953 NCBI chr11:78,234,321...78,239,990
Ensembl chr11:78,234,308...78,239,990 		JBrowse link
G Vldlr very low density lipoprotein receptor IAGP MGI PMID:17562991 PMID:18172119 PMID:21757581 NCBI chr19:27,190,070...27,231,631
Ensembl chr19:27,193,884...27,231,631 		JBrowse link
G Vps33a VPS33A CORVET/HOPS core subunit IAGP MGI PMID:9585243 NCBI chr 5:123,666,820...123,711,104
Ensembl chr 5:123,666,722...123,711,101 		JBrowse link
G Vsx2 visual system homeobox 2 IAGP MGI PMID:23028343 NCBI chr12:84,616,602...84,642,231
Ensembl chr12:84,616,536...84,642,231 		JBrowse link
abnormal retina pigmentation term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP-binding cassette, sub-family A member 4 IAGP MGI PMID:19494204 NCBI chr 3:121,837,547...121,973,719
Ensembl chr 3:121,838,092...121,973,772 		JBrowse link
G Adamtsl4 ADAMTS-like 4 IAGP MGI PMID:26405179 NCBI chr 3:95,583,511...95,595,232
Ensembl chr 3:95,583,511...95,595,228 		JBrowse link
G Arhgap25 Rho GTPase activating protein 25 IEA MGI NCBI chr 6:87,435,526...87,510,241
Ensembl chr 6:87,435,527...87,510,241 		JBrowse link
G Bloc1s4 biogenesis of lysosomal organelles complex-1, subunit 4, cappuccino IAGP MGI PMID:11110696 NCBI chr 5:36,904,718...36,906,023
Ensembl chr 5:36,904,722...36,905,994 		JBrowse link
G Bmp7 bone morphogenetic protein 7 IAGP MGI PMID:9013703 NCBI chr 2:172,709,805...172,782,114
Ensembl chr 2:172,709,805...172,782,114 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 IAGP MGI PMID:17652758 PMID:23637822 NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279 		JBrowse link
G Chm CHM Rab escort protein IAGP MGI PMID:16410831 NCBI chr  X:111,950,289...112,095,236
Ensembl chr  X:111,950,290...112,095,214 		JBrowse link
G Cp ceruloplasmin IAGP MGI PMID:15365174 NCBI chr 3:20,011,097...20,063,914
Ensembl chr 3:20,011,218...20,063,309 		JBrowse link
G Crb1 crumbs family member 1, photoreceptor morphogenesis associated IAGP MGI PMID:30372741 NCBI chr 1:139,101,288...139,307,262
Ensembl chr 1:139,124,794...139,304,838 		JBrowse link
G Crx cone-rod homeobox IAGP MGI PMID:21052544 NCBI chr 7:15,599,872...15,613,880
Ensembl chr 7:15,599,872...15,613,893 		JBrowse link
G Cryba1 crystallin, beta A1 IAGP MGI PMID:24468901 NCBI chr11:77,609,440...77,616,119
Ensembl chr11:77,609,441...77,616,109 		JBrowse link
G Csnk2a1 casein kinase 2, alpha 1 polypeptide IAGP MGI PMID:17954558 NCBI chr 2:152,068,468...152,123,772
Ensembl chr 2:152,068,759...152,123,772 		JBrowse link
G Ctnna1 catenin alpha 1 IAGP MGI PMID:26691986 NCBI chr18:35,251,955...35,387,829
Ensembl chr18:35,251,912...35,387,832 		JBrowse link
G Ctns cystinosis, nephropathic IAGP MGI PMID:12370309 NCBI chr11:73,073,959...73,089,869
Ensembl chr11:73,074,422...73,089,868 		JBrowse link
G Cx3cr1 C-X3-C motif chemokine receptor 1 IAGP MGI PMID:17652758 PMID:23637822 NCBI chr 9:119,877,749...119,897,362
Ensembl chr 9:119,877,749...119,898,945 		JBrowse link
G Dcc DCC netrin 1 receptor IAGP MGI PMID:9331350 NCBI chr18:71,386,703...72,484,299
Ensembl chr18:71,386,705...72,484,140 		JBrowse link
G Dct dopachrome tautomerase IAGP MGI PMID:33100333 NCBI chr14:118,250,202...118,289,658
Ensembl chr14:118,250,202...118,289,656 		JBrowse link
G Fam151a family with sequence simliarity 151, member A IAGP MGI PMID:31949211 NCBI chr 4:106,591,112...106,605,489
Ensembl chr 4:106,591,086...106,605,489 		JBrowse link
G Fam151b family with sequence similarity 151, member B IAGP MGI PMID:31949211 NCBI chr13:92,586,128...92,620,539
Ensembl chr13:92,586,133...92,620,523 		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 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 Gt(ROSA)26Sor gene trap ROSA 26, Philippe Soriano IAGP MGI PMID:16203745 NCBI chr 6:113,044,389...113,054,205
Ensembl chr 6:113,043,843...113,055,336 		JBrowse link
G H2az2 H2A.Z histone variant 2 IAGP MGI PMID:16203745 PMID:25451153 NCBI chr11:6,377,226...6,394,511
Ensembl chr11:6,377,229...6,394,443 		JBrowse link
G Hbs1l Hbs1-like (S. cerevisiae) IAGP MGI PMID:30707697 NCBI chr10:21,171,876...21,244,788
Ensembl chr10:21,171,878...21,244,797 		JBrowse link
G Heph hephaestin IAGP MGI PMID:15365174 NCBI chr  X:95,499,042...95,618,091
Ensembl chr  X:95,498,965...95,618,091 		JBrowse link
G Hps3 HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 IAGP MGI PMID:11707070 NCBI chr 3:20,050,109...20,089,478
Ensembl chr 3:20,050,109...20,089,479 		JBrowse link
G Jak3 Janus kinase 3 IAGP MGI PMID:30372741 NCBI chr 8:72,129,027...72,143,221
Ensembl chr 8:72,128,940...72,143,219 		JBrowse link
G Kitl kit ligand IEA MGI NCBI chr10:99,851,477...99,936,278
Ensembl chr10:99,851,492...99,936,278 		JBrowse link
G Lca5 Leber congenital amaurosis 5 (human) IAGP MGI PMID:21606596 NCBI chr 9:83,273,408...83,325,047
Ensembl chr 9:83,272,346...83,323,180 		JBrowse link
G Lmo7 LIM domain only 7 IAGP MGI PMID:12761045 NCBI chr14:101,967,353...102,172,144
Ensembl chr14:101,967,386...102,172,146 		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 Lyst lysosomal trafficking regulator IAGP MGI PMID:13943454 NCBI chr13:13,764,896...13,953,388
Ensembl chr13:13,764,982...13,953,388 		JBrowse link
G Mdm1 MDM1 nuclear protein IAGP MGI PMID:18805803 NCBI chr10:117,977,446...118,004,904
Ensembl chr10:117,977,716...118,004,902 		JBrowse link
G Med1 mediator complex subunit 1 IAGP MGI PMID:11724781 NCBI chr11:98,042,980...98,084,121
Ensembl chr11:98,042,980...98,084,119 		JBrowse link
G Mertk MER proto-oncogene tyrosine kinase IAGP MGI PMID:21436282 NCBI chr 2:128,540,836...128,645,082
Ensembl chr 2:128,540,876...128,644,814 		JBrowse link
G Mitf melanogenesis associated transcription factor IAGP MGI PMID:4963367 PMID:8631625 PMID:9501313 NCBI chr 6:97,783,966...97,998,321
Ensembl chr 6:97,784,013...97,998,310 		JBrowse link
G Myrf myelin regulatory factor IAGP MGI PMID:31048900 NCBI chr19:10,185,635...10,218,134
Ensembl chr19:10,185,636...10,218,112 		JBrowse link
G Ndp Norrie disease (pseudoglioma) (human) IAGP MGI PMID:8789439 NCBI chr  X:16,751,760...16,778,013
Ensembl chr  X:16,751,760...16,778,013 		JBrowse link
G Nphp4 nephronophthisis 4 (juvenile) homolog (human) IAGP MGI PMID:21078623 NCBI chr 4:152,561,163...152,647,641
Ensembl chr 4:152,561,163...152,647,640 		JBrowse link
G Pax2 paired box 2 IAGP MGI PMID:8951055 PMID:10934015 NCBI chr19:44,735,040...44,826,708
Ensembl chr19:44,735,057...44,826,310 		JBrowse link
G Pcare photoreceptor cilium actin regulator IAGP MGI PMID:25616964 NCBI chr17:72,050,919...72,059,904
Ensembl chr17:72,050,550...72,059,889 		JBrowse link
G Pdgfc platelet-derived growth factor, C polypeptide IEA MGI NCBI chr 3:80,943,723...81,121,347
Ensembl chr 3:80,943,723...81,121,347 		JBrowse link
G Pitx2 paired-like homeodomain transcription factor 2 IAGP MGI PMID:16203745 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 Prkcq protein kinase C, theta IAGP MGI PMID:26978024 NCBI chr 2:11,176,922...11,306,033
Ensembl chr 2:11,176,919...11,306,033 		JBrowse link
G Prom1 prominin 1 IAGP MGI PMID:19228982 NCBI chr 5:44,150,963...44,260,850
Ensembl chr 5:44,150,962...44,259,374 		JBrowse link
G Rab28 RAB28, member RAS oncogene family IAGP MGI PMID:30228185 NCBI chr 5:41,782,316...41,865,535
Ensembl chr 5:41,782,319...41,865,500 		JBrowse link
G Rb1cc1 RB1-inducible coiled-coil 1 IAGP MGI PMID:26075877 NCBI chr 1:6,284,858...6,346,599
Ensembl chr 1:6,276,421...6,346,872 		JBrowse link
G Rdh8 retinol dehydrogenase 8 IAGP MGI PMID:19494204 NCBI chr 9:20,729,790...20,739,354
Ensembl chr 9:20,729,799...20,737,413 		JBrowse link
G Rho rhodopsin IAGP MGI PMID:19741247 NCBI chr 6:115,903,741...115,916,999
Ensembl chr 6:115,908,709...115,916,997 		JBrowse link
G Rpe65 retinal pigment epithelium 65 IAGP MGI PMID:21052544 NCBI chr 3:159,304,712...159,330,944
Ensembl chr 3:159,304,812...159,330,958 		JBrowse link
G Rpgr retinitis pigmentosa GTPase regulator IAGP MGI PMID:22563472 NCBI chr  X:10,024,455...10,083,034
Ensembl chr  X:9,939,860...10,083,159 		JBrowse link
G Rxra retinoid X receptor alpha IAGP MGI PMID:14742273 NCBI chr 2:27,566,457...27,653,331
Ensembl chr 2:27,566,452...27,652,969 		JBrowse link
G Serpinf1 serine (or cysteine) peptidase inhibitor, clade F, member 1 IAGP MGI PMID:12740569 NCBI chr11:75,300,855...75,313,449
Ensembl chr11:75,300,595...75,313,527 		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 Slc9a8 solute carrier family 9 (sodium/hydrogen exchanger), member 8 IEA MGI NCBI chr 2:167,261,678...167,318,920
Ensembl chr 2:167,263,632...167,318,920 		JBrowse link
G Sod2 superoxide dismutase 2, mitochondrial IAGP MGI PMID:24985474 NCBI chr17:13,226,726...13,237,006
Ensembl chr17:13,225,733...13,258,950 		JBrowse link
G Trappc6a trafficking protein particle complex 6A IAGP MGI PMID:16697553 NCBI chr 7:19,242,595...19,250,070
Ensembl chr 7:19,242,320...19,250,070 		JBrowse link
G Vldlr very low density lipoprotein receptor IAGP MGI PMID:21757581 NCBI chr19:27,190,070...27,231,631
Ensembl chr19:27,193,884...27,231,631 		JBrowse link
G Vsx2 visual system homeobox 2 IAGP MGI PMID:23028343 NCBI chr12:84,616,602...84,642,231
Ensembl chr12:84,616,536...84,642,231 		JBrowse link
absent eye pigmentation term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G a nonagouti IAGP MGI PMID:24599260 NCBI chr 2:154,792,519...154,892,932
Ensembl chr 2:154,633,322...154,892,932 		JBrowse link
G Bloc1s1 biogenesis of lysosomal organelles complex-1, subunit 1 IAGP MGI PMID:25183008 NCBI chr10:128,755,783...128,759,393
Ensembl chr10:128,753,751...128,759,904 		JBrowse link
G Bloc1s2 biogenesis of lysosomal organelles complex-1, subunit 2 IAGP MGI PMID:27719760 NCBI chr19:44,127,685...44,134,909
Ensembl chr19:44,127,685...44,134,885 		JBrowse link
G Fuz fuzzy planar cell polarity protein IAGP MGI PMID:19877275 NCBI chr 7:44,545,517...44,552,053
Ensembl chr 7:44,545,503...44,552,055 		JBrowse link
G Hps3 HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 IAGP MGI PMID:3408670 NCBI chr 3:20,050,109...20,089,478
Ensembl chr 3:20,050,109...20,089,479 		JBrowse link
G Mitf melanogenesis associated transcription factor IAGP MGI PMID:10790403 NCBI chr 6:97,783,966...97,998,321
Ensembl chr 6:97,784,013...97,998,310 		JBrowse link
G Oca2 oculocutaneous albinism II IEA MGI NCBI chr 7:55,889,341...56,186,266
Ensembl chr 7:55,889,508...56,186,266 		JBrowse link
G Slc45a2 solute carrier family 45, member 2 IEA MGI NCBI chr15:11,000,807...11,029,319
Ensembl chr15:11,000,807...11,029,319 		JBrowse link
G Tyr tyrosinase IAGP MGI PMID:1618394 PMID:8200511 PMID:9023352 PMID:12215665 PMID:24599260 More... NCBI chr 7:87,073,979...87,142,637
Ensembl chr 7:87,073,979...87,142,720 		JBrowse link
decreased eye 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 Ap3b1 adaptor-related protein complex 3, beta 1 subunit IAGP MGI PMID:9434937 NCBI chr13:94,492,332...94,702,838
Ensembl chr13:94,495,468...94,702,825 		JBrowse link
G Ap3d1 adaptor-related protein complex 3, delta 1 subunit IAGP MGI PMID:4448900 NCBI chr10:80,542,790...80,578,137
Ensembl chr10:80,542,790...80,578,098 		JBrowse link
G Bloc1s4 biogenesis of lysosomal organelles complex-1, subunit 4, cappuccino IAGP MGI PMID:11110696 NCBI chr 5:36,904,718...36,906,023
Ensembl chr 5:36,904,722...36,905,994 		JBrowse link
G Bloc1s5 biogenesis of lysosomal organelles complex-1, subunit 5, muted IAGP MGI PMID:11912185 NCBI chr13:38,786,674...38,821,093
Ensembl chr13:38,776,818...38,819,085 		JBrowse link
G Bloc1s6 biogenesis of lysosomal organelles complex-1, subunit 6, pallidin IAGP MGI PMID:17807638 NCBI chr 2:122,580,425...122,591,407
Ensembl chr 2:122,580,423...122,591,395 		JBrowse link
G Crb1 crumbs family member 1, photoreceptor morphogenesis associated IAGP MGI PMID:26978024 NCBI chr 1:139,101,288...139,307,262
Ensembl chr 1:139,124,794...139,304,838 		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 Gas1 growth arrest specific 1 IAGP MGI PMID:11456442 NCBI chr13:60,322,219...60,325,179
Ensembl chr13:60,322,219...60,325,179 		JBrowse link
G Hps1 HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 IAGP MGI PMID:6031677 NCBI chr19:42,743,629...42,770,013
Ensembl chr19:42,743,544...42,768,417 		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:13943454 PMID:16578176 NCBI chr19:45,991,917...45,994,612
Ensembl chr19:45,991,947...45,994,612 		JBrowse link
G Lyst lysosomal trafficking regulator IAGP MGI PMID:13943454 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:4092923 PMID:4392283 PMID:7495310 PMID:8776879 PMID:9501313 More... NCBI chr 6:97,783,966...97,998,321
Ensembl chr 6:97,784,013...97,998,310 		JBrowse link
G Myo5a myosin VA IAGP MGI PMID:18902556 NCBI chr 9:74,975,183...75,130,970
Ensembl chr 9:74,978,297...75,130,970 		JBrowse link
G Nf1 neurofibromin 1 IAGP MGI PMID:11297510 NCBI chr11:79,223,541...79,472,435
Ensembl chr11:79,230,519...79,472,438 		JBrowse link
G Oca2 oculocutaneous albinism II IAGP MGI PMID:1495987 PMID:1509264 PMID:1673574 PMID:5565073 PMID:8601493 More... NCBI chr 7:55,889,341...56,186,266
Ensembl chr 7:55,889,508...56,186,266 		JBrowse link
G Pax6 paired box 6 IAGP MGI PMID:3794606 NCBI chr 2:105,499,241...105,528,755
Ensembl chr 2:105,499,245...105,527,709 		JBrowse link
G Prkcq protein kinase C, theta IAGP MGI PMID:26978024 NCBI chr 2:11,176,922...11,306,033
Ensembl chr 2:11,176,919...11,306,033 		JBrowse link
G Rab32 RAB32, member RAS oncogene family IAGP MGI PMID:31399401 NCBI chr10:10,420,783...10,433,951
Ensembl chr10:10,420,746...10,434,009 		JBrowse link
G Rab38 RAB38, member RAS oncogene family IAGP MGI PMID:18832574 PMID:31399401 NCBI chr 7:88,079,481...88,140,780
Ensembl chr 7:88,079,481...88,140,780 		JBrowse link
G Sema4a sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A IAGP MGI PMID:15277503 NCBI chr 3:88,343,266...88,368,500
Ensembl chr 3:88,343,266...88,368,489 		JBrowse link
G Slc45a2 solute carrier family 45, member 2 IEA MGI NCBI chr15:11,000,807...11,029,319
Ensembl chr15:11,000,807...11,029,319 		JBrowse link
G Tlr4 toll-like receptor 4 IEA MGI NCBI chr 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521 		JBrowse link
G Tpcn2 two pore segment channel 2 IAGP MGI PMID:36641477 NCBI chr 7:144,735,370...144,837,743
Ensembl chr 7:144,740,261...144,837,748 		JBrowse link
G Tyr tyrosinase IAGP MGI PMID:10325425 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 IEA MGI NCBI chr 4:80,752,360...80,769,973
Ensembl chr 4:80,752,360...80,769,956 		JBrowse link
G Vsx2 visual system homeobox 2 IAGP MGI PMID:827941 NCBI chr12:84,616,602...84,642,231
Ensembl chr12:84,616,536...84,642,231 		JBrowse link
ocular albinism term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bloc1s6 biogenesis of lysosomal organelles complex-1, subunit 6, pallidin IAGP MGI PMID:18715234 NCBI chr 2:122,580,425...122,591,407
Ensembl chr 2:122,580,423...122,591,395 		JBrowse link
G Mitf melanogenesis associated transcription factor IAGP MGI PMID:18902556 NCBI chr 6:97,783,966...97,998,321
Ensembl chr 6:97,784,013...97,998,310 		JBrowse link
G Oca2 oculocutaneous albinism II IEA MGI NCBI chr 7:55,889,341...56,186,266
Ensembl chr 7:55,889,508...56,186,266 		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 Tyr tyrosinase IAGP MGI PMID:9023352 PMID:18715234 PMID:21968110 NCBI chr 7:87,073,979...87,142,637
Ensembl chr 7:87,073,979...87,142,720 		JBrowse link
retina pigment epithelium atrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alms1 ALMS1, centrosome and basal body associated IAGP MGI PMID:28859131 NCBI chr 6:85,564,482...85,698,973
Ensembl chr 6:85,564,513...85,679,735 		JBrowse link
G Apoe apolipoprotein E IAGP MGI PMID:16079201 NCBI chr 7:19,430,169...19,434,326
Ensembl chr 7:19,430,034...19,433,113 		JBrowse link
G Bmp7 bone morphogenetic protein 7 IAGP MGI PMID:19247966 NCBI chr 2:172,709,805...172,782,114
Ensembl chr 2:172,709,805...172,782,114 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 IAGP MGI PMID:17652758 PMID:23637822 NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279 		JBrowse link
G Cp ceruloplasmin IAGP MGI PMID:22342521 NCBI chr 3:20,011,097...20,063,914
Ensembl chr 3:20,011,218...20,063,309 		JBrowse link
G Cx3cr1 C-X3-C motif chemokine receptor 1 IAGP MGI PMID:17652758 PMID:23637822 NCBI chr 9:119,877,749...119,897,362
Ensembl chr 9:119,877,749...119,898,945 		JBrowse link
G Dhdds dehydrodolichyl diphosphate synthase IAGP MGI PMID:32245241 NCBI chr 4:133,696,339...133,728,267
Ensembl chr 4:133,696,339...133,728,229 		JBrowse link
G Efemp1 epidermal growth factor-containing fibulin-like extracellular matrix protein 1 IAGP MGI PMID:17664227 NCBI chr11:28,803,154...28,876,743
Ensembl chr11:28,803,204...28,876,743 		JBrowse link
G Fat1 FAT atypical cadherin 1 IAGP MGI PMID:12724416 NCBI chr 8:45,386,137...45,505,294
Ensembl chr 8:45,388,484...45,505,294 		JBrowse link
G Gt(ROSA)26Sor gene trap ROSA 26, Philippe Soriano IAGP MGI PMID:19850870 NCBI chr 6:113,044,389...113,054,205
Ensembl chr 6:113,043,843...113,055,336 		JBrowse link
G Heph hephaestin IAGP MGI PMID:22342521 NCBI chr  X:95,499,042...95,618,091
Ensembl chr  X:95,498,965...95,618,091 		JBrowse link
G Mertk MER proto-oncogene tyrosine kinase IAGP MGI PMID:12556419 NCBI chr 2:128,540,836...128,645,082
Ensembl chr 2:128,540,876...128,644,814 		JBrowse link
G Myrf myelin regulatory factor IAGP MGI PMID:31048900 NCBI chr19:10,185,635...10,218,134
Ensembl chr19:10,185,636...10,218,112 		JBrowse link
G Nampt nicotinamide phosphoribosyltransferase IAGP MGI PMID:27681422 NCBI chr12:32,870,334...32,903,368
Ensembl chr12:32,869,544...32,903,348 		JBrowse link
G Nmnat1 nicotinamide nucleotide adenylyltransferase 1 IAGP MGI PMID:27207593 NCBI chr 4:149,552,026...149,569,667
Ensembl chr 4:149,552,029...149,569,659 		JBrowse link
G Oat ornithine aminotransferase IAGP MGI PMID:25264521 NCBI chr 7:132,159,204...132,178,127
Ensembl chr 7:132,159,207...132,178,127 		JBrowse link
G Prkcq protein kinase C, theta IAGP MGI PMID:26978024 NCBI chr 2:11,176,922...11,306,033
Ensembl chr 2:11,176,919...11,306,033 		JBrowse link
G Rb1cc1 RB1-inducible coiled-coil 1 IAGP MGI PMID:26075877 NCBI chr 1:6,284,858...6,346,599
Ensembl chr 1:6,276,421...6,346,872 		JBrowse link
G Rxra retinoid X receptor alpha IAGP MGI PMID:14742273 NCBI chr 2:27,566,457...27,653,331
Ensembl chr 2:27,566,452...27,652,969 		JBrowse link
G Sod2 superoxide dismutase 2, mitochondrial IAGP MGI PMID:24985474 PMID:26427390 NCBI chr17:13,226,726...13,237,006
Ensembl chr17:13,225,733...13,258,950 		JBrowse link
G Tmem161b transmembrane protein 161B IAGP MGI PMID:36669109 NCBI chr13:84,370,415...84,444,085
Ensembl chr13:84,370,415...84,444,260 		JBrowse link
retina pigment epithelium hyperplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arhgap35 Rho GTPase activating protein 35 IAGP MGI PMID:11044403 NCBI chr 7:16,228,398...16,349,313
Ensembl chr 7:16,227,644...16,348,918 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 IAGP MGI PMID:17652758 NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279 		JBrowse link
G Cp ceruloplasmin IAGP MGI PMID:15365174 PMID:18326691 NCBI chr 3:20,011,097...20,063,914
Ensembl chr 3:20,011,218...20,063,309 		JBrowse link
G Cx3cr1 C-X3-C motif chemokine receptor 1 IAGP MGI PMID:17652758 NCBI chr 9:119,877,749...119,897,362
Ensembl chr 9:119,877,749...119,898,945 		JBrowse link
G Dapl1 death associated protein-like 1 IAGP MGI PMID:28334846 NCBI chr 2:59,314,997...59,335,364
Ensembl chr 2:59,314,997...59,335,364 		JBrowse link
G Heph hephaestin IAGP MGI PMID:15365174 PMID:18326691 NCBI chr  X:95,499,042...95,618,091
Ensembl chr  X:95,498,965...95,618,091 		JBrowse link
G Mdm1 MDM1 nuclear protein IAGP MGI PMID:18805803 NCBI chr10:117,977,446...118,004,904
Ensembl chr10:117,977,716...118,004,902 		JBrowse link
G Nf2 neurofibromin 2 IAGP MGI PMID:33075808 NCBI chr11:4,715,845...4,799,544
Ensembl chr11:4,715,845...4,799,536 		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 Tmem135 transmembrane protein 135 IAGP MGI PMID:27863209 NCBI chr 7:88,789,230...89,053,911
Ensembl chr 7:88,788,922...89,053,430 		JBrowse link
variegated eye pigmentation pattern term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G a nonagouti IEA MGI NCBI chr 2:154,792,519...154,892,932
Ensembl chr 2:154,633,322...154,892,932 		JBrowse link
G Tyr tyrosinase IEA MGI NCBI chr 7:87,073,979...87,142,637
Ensembl chr 7:87,073,979...87,142,720 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  mammalian phenotype 17059
    pigmentation phenotype 739
      abnormal extracutaneous pigmentation 218
        abnormal eye pigmentation 210
          abnormal choroid pigmentation + 22
          abnormal ciliary body pigmentation 4
          abnormal iris pigment epithelium 10
          abnormal iris pigmentation + 32
          abnormal retina pigment epithelium morphology + 166
          absent eye pigmentation + 11
          decreased eye pigmentation 28
          variegated eye pigmentation pattern 2
paths to the root