ONTOLOGY REPORT - ANNOTATIONS


Term:Eye Diseases
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Accession:RDO:0001023 term browser browse the term
Definition:Diseases affecting the eye.
Synonyms:exact_synonym: Eye Disease
 primary_id: MESH:D005128
 alt_id: DOID:5614


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Eye Diseases term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcc6 ATP binding cassette subfamily C member 6 JBrowse link 1 101,954,786 102,013,252 RGD:8554872
G Ahi1 Abelson helper integration site 1 JBrowse link 1 16,478,127 16,601,769 RGD:8554872
G Cacna1f calcium voltage-gated channel subunit alpha1 F JBrowse link X 15,712,709 15,741,135 RGD:8554872
G Cacna2d4 calcium voltage-gated channel auxiliary subunit alpha2delta 4 JBrowse link 4 151,298,548 151,409,263 RGD:8554872
G Chm CHM, Rab escort protein 1 JBrowse link X 84,666,900 84,821,775 RGD:8554872
G Cnga3 cyclic nucleotide gated channel alpha 3 JBrowse link 9 43,807,412 43,858,225 RGD:8554872
G Cngb3 cyclic nucleotide gated channel beta 3 JBrowse link 5 33,097,353 33,507,467 RGD:8554872
G Col2a1 collagen type II alpha 1 chain JBrowse link 7 139,454,945 139,484,403 RGD:8657386
G F2 coagulation factor II JBrowse link 3 80,529,468 80,542,993 RGD:7394769
G Gnat2 G protein subunit alpha transducin 2 JBrowse link 2 210,880,754 210,890,765 RGD:8554872
G Gphn gephyrin JBrowse link 6 101,327,874 101,859,169 RGD:8554872
G Il18 interleukin 18 JBrowse link 8 55,009,666 55,016,286 RGD:8655910
G Impg2 interphotoreceptor matrix proteoglycan 2 JBrowse link 11 46,615,091 46,693,565 RGD:8554872
G Mthfr methylenetetrahydrofolate reductase JBrowse link 5 164,844,642 164,864,360 RGD:7387241
G Nat2 N-acetyltransferase 2 JBrowse link 16 23,960,709 23,991,570 RGD:8552648
G Nr2e3 nuclear receptor subfamily 2, group E, member 3 JBrowse link 8 64,797,518 64,801,587 RGD:8554872
G Nyx nyctalopin JBrowse link X 10,197,547 10,218,583 RGD:8554872
G Pomc proopiomelanocortin JBrowse link 6 28,382,937 28,388,771 RGD:11554173
G Rbp4 retinol binding protein 4 JBrowse link 1 256,806,476 256,813,678 RGD:8554872
G Rdh12 retinol dehydrogenase 12 (all-trans/9-cis/11-cis) JBrowse link 6 102,392,828 102,405,750 RGD:8554872
G Rp2 RP2, ARL3 GTPase activating protein JBrowse link X 2,066,298 2,116,661 RGD:8554872
G Rpgrip1 RPGR interacting protein 1 JBrowse link 15 28,521,287 28,575,046 RGD:8554872
G Rpgrip1l Rpgrip1-like JBrowse link 19 17,115,266 17,208,055 RGD:11554173
G Scd stearoyl-CoA desaturase JBrowse link 1 264,159,966 264,173,061 RGD:11554173
G Tlr2 toll-like receptor 2 JBrowse link 2 182,840,171 182,846,061 RGD:8552913
G Tlr3 toll-like receptor 3 JBrowse link 16 50,016,466 50,031,011 RGD:8552913
G Tlr4 toll-like receptor 4 JBrowse link 5 82,587,424 82,601,056 RGD:8552913
G Tnf tumor necrosis factor JBrowse link 20 5,189,382 5,192,000 RGD:7387296
G Trpm6 transient receptor potential cation channel, subfamily M, member 6 JBrowse link 1 234,478,908 234,631,264 RGD:8554872
G Tyr tyrosinase JBrowse link 1 151,012,598 151,106,802 RGD:8554872
G Vps13b vacuolar protein sorting 13 homolog B JBrowse link 7 74,118,834 74,722,341 RGD:8554872
G Zfyve26 zinc finger FYVE-type containing 26 JBrowse link 6 102,409,235 102,472,962 RGD:8554872
Microcephaly and Chorioretinopathy, Autosomal Recessive, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Plk4 polo-like kinase 4 JBrowse link 2 127,686,911 127,705,518 RGD:8554872
RGD:7240710
3-METHYLGLUTACONIC ACIDURIA WITH CATARACTS, NEUROLOGIC INVOLVEMENT, AND NEUTROPENIA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Clpb ClpB homolog, mitochondrial AAA ATPase chaperonin JBrowse link 1 166,739,372 166,866,095 RGD:7240710
RGD:8554872
3MC syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Colec11 collectin sub-family member 11 JBrowse link 6 47,857,767 47,889,961 RGD:11554173
G Masp1 mannan-binding lectin serine peptidase 1 JBrowse link 11 80,736,424 80,806,278 RGD:7240710
RGD:8554872
RGD:11554173
3MC syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Clk1 CDC-like kinase 1 JBrowse link 9 65,296,777 65,308,017 RGD:7240710
G Colec11 collectin sub-family member 11 JBrowse link 6 47,857,767 47,889,961 RGD:7240710
RGD:11554173
RGD:8554872
G Masp1 mannan-binding lectin serine peptidase 1 JBrowse link 11 80,736,424 80,806,278 RGD:11554173
Ablepharon Macrostomia Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Twist2 twist family bHLH transcription factor 2 JBrowse link 9 98,924,134 98,968,510 RGD:8554872
RGD:7240710
Absent Corpus Callosum Cataract Immunodeficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Epg5 ectopic P-granules autophagy protein 5 homolog JBrowse link 18 74,299,965 74,397,115 RGD:7240710
RGD:8554872
RGD:11554173
Acanthamoeba Keratitis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tlr4 toll-like receptor 4 JBrowse link 5 82,587,424 82,601,056 RGD:7777095
achromatopsia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atf6 activating transcription factor 6 JBrowse link 13 89,053,457 89,242,531 RGD:8554872
G Cnga3 cyclic nucleotide gated channel alpha 3 JBrowse link 9 43,807,412 43,858,225 RGD:8554872
G Cngb3 cyclic nucleotide gated channel beta 3 JBrowse link 5 33,097,353 33,507,467 RGD:8554872
G Gnat2 G protein subunit alpha transducin 2 JBrowse link 2 210,880,754 210,890,765 RGD:8554872
G Pde6c phosphodiesterase 6C JBrowse link 1 256,822,099 256,885,879 RGD:8554872
G Pde6h phosphodiesterase 6H JBrowse link 4 170,947,723 170,963,046 RGD:8554872
Achromatopsia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cnga3 cyclic nucleotide gated channel alpha 3 JBrowse link 9 43,807,412 43,858,225 RGD:9068452
RGD:8554872
G Cngb3 cyclic nucleotide gated channel beta 3 JBrowse link 5 33,097,353 33,507,467 RGD:9068446
RGD:8554872
RGD:9068450
Achromatopsia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cnga3 cyclic nucleotide gated channel alpha 3 JBrowse link 9 43,807,412 43,858,225 RGD:7240710
RGD:8554872
Achromatopsia 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cngb3 cyclic nucleotide gated channel beta 3 JBrowse link 5 33,097,353 33,507,467 RGD:7240710
RGD:8554872
Achromatopsia 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gnat2 G protein subunit alpha transducin 2 JBrowse link 2 210,880,754 210,890,765 RGD:7240710
RGD:8554872
Achromatopsia 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pde6c phosphodiesterase 6C JBrowse link 1 256,822,099 256,885,879 RGD:8554872
ACHROMATOPSIA 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atf6 activating transcription factor 6 JBrowse link 13 89,053,457 89,242,531 RGD:7240710
RGD:8554872
Acute Uveitis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Crp C-reactive protein JBrowse link 13 91,080,448 91,081,358 RGD:9491782
RGD:9491833
Adult i Blood Group with Congenital Cataract term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gcnt2 glucosaminyl (N-acetyl) transferase 2, I-branching enzyme JBrowse link 17 21,634,546 21,677,477 RGD:7240710
RGD:8554872
age related macular degeneration term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cfhr1 complement factor H-related 1 JBrowse link 13 56,862,666 56,877,650 RGD:8554872
G RGD1564614 similar to complement factor H-related protein JBrowse link 13 56,889,669 56,958,549 RGD:8554872
Age related macular degeneration 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Apoe apolipoprotein E JBrowse link 1 80,612,894 80,616,820 RGD:7240710
RGD:8554872
G C2 complement C2 JBrowse link 20 4,542,340 4,561,152 RGD:7240710
G Cfb complement factor B JBrowse link 20 4,536,206 4,542,073 RGD:7240710
G Cfhr1 complement factor H-related 1 JBrowse link 13 56,862,666 56,877,650 RGD:7240710
G Hmcn1 hemicentin 1 JBrowse link 13 67,799,791 68,360,664 RGD:7240710
RGD:8554872
G Plekha1 pleckstrin homology domain containing A1 JBrowse link 1 201,429,716 201,481,411 RGD:7240710
G RGD1564614 similar to complement factor H-related protein JBrowse link 13 56,889,669 56,958,549 RGD:7240710
Age related macular degeneration 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cst3 cystatin C JBrowse link 3 143,219,671 143,223,544 RGD:7240710
RGD:8554872
Age related macular degeneration 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cx3cr1 C-X3-C motif chemokine receptor 1 JBrowse link 8 128,740,756 128,754,514 RGD:7240710
Alacrima, Achalasia, and Mental Retardation Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gmppa GDP-mannose pyrophosphorylase A JBrowse link 9 82,632,267 82,639,811 RGD:7240710
RGD:8554872
Aland Island Eye Disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cacna1f calcium voltage-gated channel subunit alpha1 F JBrowse link X 15,712,709 15,741,135 RGD:7240710
ALAZAMI-YUAN SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Taf6 TATA-box binding protein associated factor 6 JBrowse link 12 19,320,269 19,328,706 RGD:11554173
RGD:8554872
Albinism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gpr143 G protein-coupled receptor 143 JBrowse link X 23,668,363 23,693,162 RGD:8554872
G Oca2 OCA2 melanosomal transmembrane protein JBrowse link 1 114,661,970 114,987,433 RGD:8554872
G Tyr tyrosinase JBrowse link 1 151,012,598 151,106,802 RGD:8694353
RGD:8554872
RGD:12792973
RGD:8694355
G Tyrem1Kyo tyrosinase; TALEN induced mutant1, Kyo RGD:12792973
G Tyrp1 tyrosinase-related protein 1 JBrowse link 5 98,387,291 98,406,083 RGD:8554872
Albinism Ocular Late Onset Sensorineural Deafness term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mitf melanogenesis associated transcription factor JBrowse link 4 130,172,484 130,425,496 RGD:7240710
G Tyr tyrosinase JBrowse link 1 151,012,598 151,106,802 RGD:7240710
Albinism, Ocular term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gpr143 G protein-coupled receptor 143 JBrowse link X 23,668,363 23,693,162 RGD:8554872
G Tyr tyrosinase JBrowse link 1 151,012,598 151,106,802 RGD:8694339
RGD:8554872
RGD:7240710
G Tyrp1 tyrosinase-related protein 1 JBrowse link 5 98,387,291 98,406,083 RGD:8554872
Albinism, Oculocutaneous term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Amacr alpha-methylacyl-CoA racemase JBrowse link 2 60,949,276 60,961,342 RGD:8554872
G Hps1 HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 JBrowse link 1 261,989,178 262,015,282 RGD:11354899
G Mitf melanogenesis associated transcription factor JBrowse link 4 130,172,484 130,425,496 RGD:11554173
G Oca2 OCA2 melanosomal transmembrane protein JBrowse link 1 114,661,970 114,987,433 RGD:8554872
G Slc45a2 solute carrier family 45, member 2 JBrowse link 2 60,966,671 60,999,398 RGD:8554872
G Tyr tyrosinase JBrowse link 1 151,012,598 151,106,802 RGD:1599687
RGD:8554872
RGD:11554173
RGD:8694352
RGD:8694345
RGD:8694338
RGD:1599686
G Tyrp1 tyrosinase-related protein 1 JBrowse link 5 98,387,291 98,406,083 RGD:1599692
RGD:8554872
Albinism, Oculocutaneous, Type I, Temperature-Sensitive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tyr tyrosinase JBrowse link 1 151,012,598 151,106,802 RGD:8554872
Albinism, Oculocutaneous, Type VI term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myef2 myelin expression factor 2 JBrowse link 3 117,353,490 117,389,582 RGD:8554872
G Slc24a5 solute carrier family 24 member 5 JBrowse link 3 117,335,212 117,354,480 RGD:8554872
RGD:7240710
Albinism, Oculocutaneous, Type VII term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lrmda leucine rich melanocyte differentiation associated JBrowse link 15 1,269,869 2,346,246 RGD:7240710
RGD:8554872
Alpha-B Crystallinopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cryab crystallin, alpha B JBrowse link 8 55,178,543 55,182,546 RGD:7240710
RGD:8554872
Alstrom Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alms1 ALMS1, centrosome and basal body associated protein JBrowse link 4 117,371,544 117,472,310 RGD:1601169
RGD:8554872
RGD:11554173
RGD:8696018
RGD:8696016
RGD:8696015
RGD:8696014
RGD:8696013
RGD:7240710
Amaurosis Congenita of Leber, Type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gucy2d guanylate cyclase 2D, retinal JBrowse link 10 55,835,695 55,851,235 RGD:7240710
RGD:8554872
Amaurosis Congenita of Leber, Type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rpe65 RPE65, retinoid isomerohydrolase JBrowse link 2 266,141,581 266,169,197 RGD:737730
RGD:8554872
RGD:9495932
RGD:9495919
RGD:9495917
RGD:7240710
Amaurosis Congenita of Leber, Type 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lca5 LCA5, lebercilin JBrowse link 8 90,926,309 90,984,271 RGD:7240710
RGD:8554872
G Sh3bgrl2 SH3 domain binding glutamate-rich protein like 2 JBrowse link 8 91,069,925 91,162,537 RGD:8554872
Amaurosis Congenita of Leber, Type 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nmnat1 nicotinamide nucleotide adenylyltransferase 1 JBrowse link 5 166,409,460 166,430,291 RGD:7240710
RGD:8554872
Amaurosis Fugax term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mmp1 matrix metallopeptidase 1 JBrowse link 8 5,703,206 5,723,593 RGD:1582361
G Ppp1r15a protein phosphatase 1, regulatory subunit 15A JBrowse link 1 101,511,899 101,515,043 RGD:9999160
Amaurosis Hypertrichosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cnnm4 cyclin and CBS domain divalent metal cation transport mediator 4 JBrowse link 9 43,049,587 43,088,690 RGD:7240710
Amblyopia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ppargc1a PPARG coactivator 1 alpha JBrowse link 14 63,095,291 63,190,688 RGD:10059668
Aniridia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alpk1 alpha-kinase 1 JBrowse link 2 231,997,360 232,117,471 RGD:8554872
G Ank2 ankyrin 2 JBrowse link 2 231,224,643 231,522,655 RGD:8554872
G Ap1ar adaptor-related protein complex 1 associated regulatory protein JBrowse link 2 232,146,418 232,178,813 RGD:8554872
G Arsj arylsulfatase family, member J JBrowse link 2 230,163,014 230,662,084 RGD:8554872
G Camk2d calcium/calmodulin-dependent protein kinase II delta JBrowse link 2 230,900,907 231,132,207 RGD:8554872
G Dcdc5 doublecortin domain containing 5 JBrowse link 3 97,207,500 97,435,067 RGD:8554872
G Dnajc24 DnaJ heat shock protein family (Hsp40) member C24 JBrowse link 3 96,025,388 96,065,765 RGD:8554872
G Elp4 elongator acetyltransferase complex subunit 4 JBrowse link 3 95,733,810 95,954,987 RGD:8554872
RGD:11554173
G Fam241a family with sequence similarity 241 member A JBrowse link 2 232,214,331 232,245,319 RGD:8554872
G Foxc1 forkhead box C1 JBrowse link 17 33,947,501 33,951,484 RGD:8554872
G Glis3 GLIS family zinc finger 3 JBrowse link 1 246,380,816 246,564,385 RGD:8554872
G Gmds GDP-mannose 4, 6-dehydratase JBrowse link 17 33,408,722 33,938,086 RGD:8554872
G Immp1l inner mitochondrial membrane peptidase subunit 1 JBrowse link 3 95,955,126 96,024,316 RGD:8554872
G Kif21a kinesin family member 21A JBrowse link 7 132,069,962 132,200,947 RGD:8554872
G Larp7 La ribonucleoprotein domain family, member 7 JBrowse link 2 231,866,888 231,882,002 RGD:8554872
G Neurog2 neurogenin 2 JBrowse link 2 231,962,517 231,963,441 RGD:8554872
G Pax6 paired box 6 JBrowse link 3 95,700,241 95,728,682 RGD:1601209
RGD:8554872
RGD:12790966
RGD:11554173
RGD:8552301
RGD:8552277
RGD:8552246
RGD:8551879
RGD:8551870
RGD:8551860
RGD:8551859
RGD:8551858
RGD:8551857
RGD:8551856
G Tifa TRAF-interacting protein with forkhead-associated domain JBrowse link 2 232,104,394 232,137,425 RGD:8554872
G Trim44 tripartite motif-containing 44 JBrowse link 3 91,968,781 92,242,138 RGD:11554173
G Wt1 Wilms tumor 1 JBrowse link 3 95,133,221 95,180,574 RGD:11554173
G Zgrf1 zinc finger, GRF-type containing 1 JBrowse link 2 231,881,893 231,944,760 RGD:8554872
Aniridia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Elp4 elongator acetyltransferase complex subunit 4 JBrowse link 3 95,733,810 95,954,987 RGD:7240710
RGD:8554872
G Pax6 paired box 6 JBrowse link 3 95,700,241 95,728,682 RGD:7240710
RGD:8554872
Aniridia 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Trim44 tripartite motif-containing 44 JBrowse link 3 91,968,781 92,242,138 RGD:8554872
Aniridia cerebellar ataxia mental deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 JBrowse link 4 140,247,297 140,580,749 RGD:11554173
RGD:8554872
G Pax6 paired box 6 JBrowse link 3 95,700,241 95,728,682 RGD:7240710
RGD:8554872
Anisometropia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pten phosphatase and tensin homolog JBrowse link 1 251,421,814 251,487,634 RGD:11554173
Anophthalmia with Pulmonary Hypoplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Stra6 stimulated by retinoic acid 6 JBrowse link 8 62,925,364 62,944,438 RGD:7240710
RGD:11554173
RGD:8554872
Anophthalmos term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pax6 paired box 6 JBrowse link 3 95,700,241 95,728,682 RGD:8554872
G Rax retina and anterior neural fold homeobox JBrowse link 18 61,638,352 61,642,056 RGD:11554173
G Sox2 SRY box 2 JBrowse link 2 121,165,137 121,167,545 RGD:1599088
RGD:11554173
G Stra6 stimulated by retinoic acid 6 JBrowse link 8 62,925,364 62,944,438 RGD:11554173
Anterior Segment Dysgenesis 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 JBrowse link 6 2,308,179 2,316,739 RGD:7800682
RGD:8554872
RGD:7240710
G Dab1 DAB1, reelin adaptor protein JBrowse link 5 123,154,360 124,279,170 RGD:8554872
G Ephb2 Eph receptor B2 JBrowse link 5 155,024,478 155,143,539 RGD:8554872
G Fat1 FAT atypical cadherin 1 JBrowse link 16 50,372,150 50,501,716 RGD:8554872
G Fat4 FAT atypical cadherin 4 JBrowse link 2 125,751,818 125,879,398 RGD:8554872
G Frem1 Fras1 related extracellular matrix 1 JBrowse link 5 101,018,009 101,166,794 RGD:8554872
G Pax6 paired box 6 JBrowse link 3 95,700,241 95,728,682 RGD:8551891
RGD:8554872
RGD:7240710
G Pitrm1 pitrilysin metallopeptidase 1 JBrowse link 17 68,477,423 68,509,113 RGD:8554872
G Pitx2 paired-like homeodomain 2 JBrowse link 2 233,602,732 233,621,059 RGD:7240710
RGD:8554872
G Prpf8 pre-mRNA processing factor 8 JBrowse link 10 63,635,239 63,658,360 RGD:8554872
G Ptch1 patched 1 JBrowse link 17 1,032,242 1,085,885 RGD:8554872
G Rarg retinoic acid receptor, gamma JBrowse link 7 143,840,739 143,863,206 RGD:8554872
G Rmdn2 regulator of microtubule dynamics 2 JBrowse link 6 2,215,062 2,292,288 RGD:8554872
ANTERIOR SEGMENT DYSGENESIS 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 JBrowse link 6 2,308,179 2,316,739 RGD:8554872
ANTERIOR SEGMENT DYSGENESIS 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prg2 proteoglycan 2 JBrowse link 3 72,385,678 72,389,245 RGD:7240710
G Pxdn peroxidasin JBrowse link 6 48,866,496 48,982,368 RGD:7240710
RGD:8554872
G Pxn paxillin JBrowse link 12 46,797,953 46,845,107 RGD:7240710
Anterior Segment Mesenchymal Dysgenesis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 JBrowse link 6 2,308,179 2,316,739 RGD:11554173
G Eya1 EYA transcriptional coactivator and phosphatase 1 JBrowse link 5 4,275,728 4,495,525 RGD:8554872
G Foxc1 forkhead box C1 JBrowse link 17 33,947,501 33,951,484 RGD:8662365
G Foxe3 forkhead box E3 JBrowse link 5 133,724,796 133,725,656 RGD:1598957
RGD:8554872
RGD:7240710
G Pitx2 paired-like homeodomain 2 JBrowse link 2 233,602,732 233,621,059 RGD:8554872
G Pitx3 paired-like homeodomain 3 JBrowse link 1 265,886,766 265,899,947 RGD:7240710
RGD:11554173
RGD:11535067
RGD:8554872
G Pxdn peroxidasin JBrowse link 6 48,866,496 48,982,368 RGD:8554872
RGD:11554173
Aphakia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Foxe3 forkhead box E3 JBrowse link 5 133,724,796 133,725,656 RGD:1598956
G Pitx3 paired-like homeodomain 3 JBrowse link 1 265,886,766 265,899,947 RGD:11535071
RGD:11535075
Aphakia, Congenital Primary term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Foxe3 forkhead box E3 JBrowse link 5 133,724,796 133,725,656 RGD:7240710
RGD:8554872
G Pitx3 paired-like homeodomain 3 JBrowse link 1 265,886,766 265,899,947 RGD:7240710
Aplasia of Lacrimal and Salivary Glands term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgf10 fibroblast growth factor 10 JBrowse link 2 51,673,480 51,747,533 RGD:7240710
RGD:8554872
Apraxia, Oculomotor, Cogan Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atm ATM serine/threonine kinase JBrowse link 8 58,015,938 58,119,973 RGD:8554872
Arcus Senilis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kera keratocan JBrowse link 7 38,858,062 38,865,515 RGD:1600335
Arhinia, Choanal Atresia, and Microphthalmia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Smchd1 structural maintenance of chromosomes flexible hinge domain containing 1 JBrowse link 9 119,675,750 119,818,620 RGD:11554173
RGD:8554872
ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nek9 NIMA-related kinase 9 JBrowse link 6 109,121,524 109,162,433 RGD:8554872
RGD:11554173
Arts Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pitx2 paired-like homeodomain 2 JBrowse link 2 233,602,732 233,621,059 RGD:12910562
G Prps1 phosphoribosyl pyrophosphate synthetase 1 JBrowse link X 111,798,233 111,820,270 RGD:7240710
RGD:8554872
Asthenopia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Il10 interleukin 10 JBrowse link 13 47,738,933 47,743,392 RGD:7364861
Astigmatism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B JBrowse link 4 169,541,620 170,000,216 RGD:8554872
Ataxia-Oculomotor Apraxia 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pik3r5 phosphoinositide-3-kinase, regulatory subunit 5 JBrowse link 10 55,013,686 55,078,986 RGD:7240710
RGD:8554872
Ataxia-Oculomotor Apraxia 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pnkp polynucleotide kinase 3'-phosphatase JBrowse link 1 100,853,475 100,859,202 RGD:7240710
RGD:8554872
Athabaskan Brainstem Dysgenesis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hoxa1 homeobox A1 JBrowse link 4 82,124,358 82,127,182 RGD:8554872
RGD:7240710
RGD:11553818
RGD:11554173
G Hoxa2 homeobox A2 JBrowse link 4 82,130,441 82,134,846 RGD:8554872
AUDITORY NEUROPATHY AND OPTIC ATROPHY term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fdxr ferredoxin reductase JBrowse link 10 103,817,724 103,826,413 RGD:8554872
AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tnfaip3 TNF alpha induced protein 3 JBrowse link 1 14,401,103 14,416,369 RGD:8554872
RGD:11554173
Axenfeld-Rieger Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dact1 dishevelled-binding antagonist of beta-catenin 1 JBrowse link 6 93,740,440 93,751,003 RGD:8554872
G Foxc1 forkhead box C1 JBrowse link 17 33,947,501 33,951,484 RGD:8554872
RGD:12904045
RGD:12904044
RGD:12904042
G Fras1 Fraser extracellular matrix complex subunit 1 JBrowse link 14 14,438,392 14,853,016 RGD:8554872
G Frem1 Fras1 related extracellular matrix 1 JBrowse link 5 101,018,009 101,166,794 RGD:8554872
G Pitx2 paired-like homeodomain 2 JBrowse link 2 233,602,732 233,621,059 RGD:8554872
RGD:12910560
RGD:12910558
G Prdm5 PR/SET domain 5 JBrowse link 4 96,659,062 96,810,816 RGD:8554872
G Ptch1 patched 1 JBrowse link 17 1,032,242 1,085,885 RGD:8554872
Axenfeld-Rieger Syndrome, Type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Foxc1 forkhead box C1 JBrowse link 17 33,947,501 33,951,484 RGD:11554173
G Pax6 paired box 6 JBrowse link 3 95,700,241 95,728,682 RGD:11554173
G Pitx2 paired-like homeodomain 2 JBrowse link 2 233,602,732 233,621,059 RGD:7240710
RGD:8554872
RGD:11554173
G Prdm5 PR/SET domain 5 JBrowse link 4 96,659,062 96,810,816 RGD:8554872
Axenfeld-Rieger Syndrome, Type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Foxc1 forkhead box C1 JBrowse link 17 33,947,501 33,951,484 RGD:7240710
RGD:8554872
Ayme-Gripp Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Maf MAF bZIP transcription factor JBrowse link 19 48,179,826 48,200,995 RGD:8554872
RGD:7240710
Bacterial Keratitis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Il1r1 interleukin 1 receptor type 1 JBrowse link 9 46,962,291 47,038,139 RGD:8662876
G Ly96 lymphocyte antigen 96 JBrowse link 5 1,972,212 1,989,448 RGD:8662876
G Myd88 myeloid differentiation primary response 88 JBrowse link 8 128,022,512 128,027,462 RGD:8552819
RGD:8662876
G Tlr2 toll-like receptor 2 JBrowse link 2 182,840,171 182,846,061 RGD:8552819
RGD:8552886
G Tlr4 toll-like receptor 4 JBrowse link 5 82,587,424 82,601,056 RGD:8552886
RGD:8662876
G Tlr5 toll-like receptor 5 JBrowse link 13 101,364,784 101,385,764 RGD:8662876
Baraitser-Winter syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Actb actin, beta JBrowse link 12 13,715,843 13,718,813 RGD:7240710
RGD:8554872
Baraitser-Winter syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Actg1 actin, gamma 1 JBrowse link 10 109,518,429 109,521,288 RGD:7240710
RGD:8554872
Barber Say Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Twist2 twist family bHLH transcription factor 2 JBrowse link 9 98,924,134 98,968,510 RGD:8554872
RGD:7240710
Basal Laminar Drusen term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cfh complement factor H JBrowse link 13 56,979,155 57,080,540 RGD:7240710
RGD:8554872
BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Med25 mediator complex subunit 25 JBrowse link 1 100,872,240 100,887,864 RGD:8554872
RGD:7240710
Behcet Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcb1a ATP binding cassette subfamily B member 1A JBrowse link 4 22,339,829 22,517,642 RGD:8657073
G Ace angiotensin I converting enzyme JBrowse link 10 94,170,766 94,213,831 RGD:7829810
RGD:8142349
G Adipoq adiponectin, C1Q and collagen domain containing JBrowse link 11 81,330,845 81,344,488 RGD:8694430
G Apoa1 apolipoprotein A1 JBrowse link 8 50,525,091 50,526,875 RGD:11554173
G Apob apolipoprotein B JBrowse link 6 33,176,826 33,216,381 RGD:11554173
G Cat catalase JBrowse link 3 93,379,872 93,412,058 RGD:9068907
RGD:11554173
G Ccl2 C-C motif chemokine ligand 2 JBrowse link 10 69,412,065 69,413,863 RGD:8548882
RGD:8549488
G Ccr1 C-C motif chemokine receptor 1 JBrowse link 8 132,996,646 133,002,201 RGD:11554173
G Ccr5 chemokine (C-C motif) receptor 5 JBrowse link 8 133,192,398 133,215,599 RGD:4892106
RGD:8551827
RGD:8551814
G Cd40lg CD40 ligand JBrowse link X 159,703,703 159,714,886 RGD:8547820
G Cfb complement factor B JBrowse link 20 4,536,206 4,542,073 RGD:7411737
G Cpb2 carboxypeptidase B2 JBrowse link 15 57,290,849 57,339,762 RGD:1598474
G Crp C-reactive protein JBrowse link 13 91,080,448 91,081,358 RGD:9491757
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 JBrowse link 9 67,699,397 67,706,068 RGD:7411682
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 JBrowse link 8 62,472,087 62,478,122 RGD:8552789
G Edn1 endothelin 1 JBrowse link 17 22,136,814 22,143,745 RGD:8661801
G Erap1 endoplasmic reticulum aminopeptidase 1 JBrowse link 2 1,410,877 1,449,734 RGD:11554173
G F5 coagulation factor V JBrowse link 13 82,479,997 82,535,540 RGD:7394769
G Fas Fas cell surface death receptor JBrowse link 1 252,589,785 252,624,790 RGD:8662438
G Fcgr3a Fc fragment of IgG receptor IIIa JBrowse link 13 89,385,775 89,396,047 RGD:5508432
G Hmox1 heme oxygenase 1 JBrowse link 19 14,508,634 14,515,455 RGD:7777175
G Icam1 intercellular adhesion molecule 1 JBrowse link 8 22,035,287 22,047,049 RGD:8158115
RGD:11554173
RGD:8547575
RGD:8158123
G Ifng interferon gamma JBrowse link 7 61,337,383 61,341,419 RGD:8142356
RGD:8142377
G Ikbkg inhibitor of nuclear factor kappa B kinase subunit gamma JBrowse link X 156,254,187 156,280,046 RGD:12791269
G Il10 interleukin 10 JBrowse link 13 47,738,933 47,743,392 RGD:1598628
RGD:11554173
RGD:7364843
G Il17a interleukin 17A JBrowse link 9 26,841,299 26,844,786 RGD:8698672
G Il18 interleukin 18 JBrowse link 8 55,009,666 55,016,286 RGD:4889844
RGD:8655927
RGD:8655926
RGD:8655910
RGD:8655897
G Il1b interleukin 1 beta JBrowse link 3 121,876,256 121,882,637 RGD:7401213
G Il1rn interleukin 1 receptor antagonist JBrowse link 3 1,449,778 1,468,624 RGD:7401213
G Il2 interleukin 2 JBrowse link 2 123,847,150 123,851,854 RGD:5147902
G Il21r interleukin 21 receptor JBrowse link 1 196,996,405 197,024,185 RGD:6892926
G Il23r interleukin 23 receptor JBrowse link 4 98,203,788 98,306,729 RGD:8549550
RGD:8549565
G Il4 interleukin 4 JBrowse link 10 38,963,979 38,969,531 RGD:5147902
G Il6 interleukin 6 JBrowse link 4 3,043,231 3,047,807 RGD:7829752
G Itga2 integrin subunit alpha 2 JBrowse link 2 46,996,904 47,097,011 RGD:1582300
G Itgal integrin subunit alpha L JBrowse link 1 198,744,053 198,781,745 RGD:11554173
G Itgb2 integrin subunit beta 2 JBrowse link 20 11,777,773 11,815,647 RGD:11554173
G Mbl2 mannose binding lectin 2 JBrowse link 1 248,435,069 248,442,669 RGD:1582155
RGD:1582154
G Mefv MEFV, pyrin innate immunity regulator JBrowse link 10 12,045,813 12,056,229 RGD:8554872
G Mmp2 matrix metallopeptidase 2 JBrowse link 19 15,542,771 15,570,589 RGD:8657044
G Mmp9 matrix metallopeptidase 9 JBrowse link 3 161,413,410 161,421,473 RGD:8547820
RGD:8657044
G Nat2 N-acetyltransferase 2 JBrowse link 16 23,960,709 23,991,570 RGD:8552650
G Nod2 nucleotide-binding oligomerization domain containing 2 JBrowse link 19 19,342,061 19,389,366 RGD:8158059
RGD:13204711
RGD:8554872
G Nos3 nitric oxide synthase 3 JBrowse link 4 7,321,908 7,342,404 RGD:7771576
RGD:7775050
RGD:7775048
RGD:7771577
G Pon1 paraoxonase 1 JBrowse link 4 30,249,749 30,276,297 RGD:8547573
G Proz protein Z, vitamin K-dependent plasma glycoprotein JBrowse link 16 81,784,348 81,797,889 RGD:1580692
G Pstpip1 proline-serine-threonine phosphatase-interacting protein 1 JBrowse link 8 60,760,040 60,799,364 RGD:8554872
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 JBrowse link 2 206,342,066 206,390,348 RGD:6484733
RGD:7829745
G RT1-Bb RT1 class II, locus Bb JBrowse link 20 4,043,726 4,049,367 RGD:7483565
G RT1-CE13 RT1 class I, locus CE13 RGD:7364873
RGD:7364939
RGD:7364918
G RT1-Db1 RT1 class II, locus Db1 JBrowse link 20 4,087,621 4,097,190 RGD:7365104
G RT1-DMa RT1 class II, locus DMa JBrowse link 20 3,935,512 3,938,915 RGD:1582700
G RT1-DMb RT1 class II, locus DMb JBrowse link 20 3,945,383 3,952,838 RGD:1582700
G RT1-M5 RT1 class Ib, locus M5 JBrowse link 20 2,038,158 2,040,422 RGD:7364939
G Serpine1 serpin family E member 1 JBrowse link 12 22,641,104 22,651,482 RGD:8547693
RGD:11554173
G Slc11a1 solute carrier family 11 member 1 JBrowse link 9 81,655,590 81,666,697 RGD:5684936
G Sod1 superoxide dismutase 1 JBrowse link 11 30,363,282 30,368,858 RGD:1580846
G Stat3 signal transducer and activator of transcription 3 JBrowse link 10 88,790,401 88,842,263 RGD:6483021
RGD:8694309
G Stat4 signal transducer and activator of transcription 4 JBrowse link 9 54,340,649 54,457,753 RGD:8661713
RGD:11554173
RGD:8661718
G Tgfb1 transforming growth factor, beta 1 JBrowse link 1 82,480,875 82,497,196 RGD:5147902
G Tlr2 toll-like receptor 2 JBrowse link 2 182,840,171 182,846,061 RGD:8552883
RGD:8552915
RGD:8552888
RGD:8552885
G Tlr3 toll-like receptor 3 JBrowse link 16 50,016,466 50,031,011 RGD:8552883
G Tlr4 toll-like receptor 4 JBrowse link 5 82,587,424 82,601,056 RGD:7777175
RGD:8552915
RGD:8552888
RGD:7777176
G Tnf tumor necrosis factor JBrowse link 20 5,189,382 5,192,000 RGD:7394759
RGD:12904048
RGD:12904040
RGD:12904036
RGD:8142356
RGD:7401213
G Tnfrsf1a TNF receptor superfamily member 1A JBrowse link 4 157,864,905 157,877,634 RGD:7401213
RGD:8554872
G Vdr vitamin D receptor JBrowse link 7 139,344,452 139,394,138 RGD:8158077
G Vegfa vascular endothelial growth factor A JBrowse link 9 17,340,341 17,355,681 RGD:8655578
G Vim vimentin JBrowse link 17 80,882,715 80,891,200 RGD:6480476
G Vwf von Willebrand factor JBrowse link 4 158,085,059 158,219,525 RGD:1580642
Behr Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Opa1 OPA1, mitochondrial dynamin like GTPase JBrowse link 11 74,717,600 74,793,902 RGD:8554872
RGD:11554173
Benign Essential Blepharospasm term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Drd5 dopamine receptor D5 JBrowse link 14 77,220,579 77,222,006 RGD:7240710
Best Vitelliform Macular Dystrophy, Multifocal term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Best1 bestrophin 1 JBrowse link 1 226,033,146 226,049,893 RGD:8554872
Bestrophinopathy, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Best1 bestrophin 1 JBrowse link 1 226,033,146 226,049,893 RGD:7240710
RGD:8554872
Bietti Crystalline Dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cyp4v3 cytochrome P450, family 4, subfamily v, polypeptide 3 JBrowse link 16 50,111,803 50,136,741 RGD:7240710
RGD:8554872
Birdshot Chorioretinopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Il2 interleukin 2 JBrowse link 2 123,847,150 123,851,854 RGD:5147908
G RT1-CE13 RT1 class I, locus CE13 RGD:7365121
Blau syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nod2 nucleotide-binding oligomerization domain containing 2 JBrowse link 19 19,342,061 19,389,366 RGD:7240710
RGD:8554872
RGD:11554173
RGD:8547518
RGD:8547515
RGD:8158051
RGD:8158040
Blepharitis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Muc1 mucin 1, cell surface associated JBrowse link 2 188,543,137 188,547,874 RGD:7349379
BLEPHAROCHEILODONTIC SYNDROME 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ctnnd1 catenin delta 1 JBrowse link 3 72,001,904 72,053,047 RGD:8554872
Blepharophimosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arid1b AT-rich interaction domain 1B JBrowse link 1 45,923,119 46,232,301 RGD:8554872
G Snx9 sorting nexin 9 JBrowse link 1 46,780,142 46,826,250 RGD:8554872
G Tmem242 transmembrane protein 242 JBrowse link 1 46,302,546 46,329,885 RGD:8554872
G Zdhhc14 zinc finger, DHHC-type containing 14 JBrowse link 1 46,378,807 46,658,527 RGD:8554872
Blepharophimosis Syndrome Ohdo Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Med12 mediator complex subunit 12 JBrowse link X 71,174,653 71,197,812 RGD:8554872
RGD:11554173
Blepharophimosis Syndrome Type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Foxl2 forkhead box L2 JBrowse link 8 107,194,492 107,197,644 RGD:8554872
RGD:11554173
Blepharophimosis Syndrome Type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Foxl2 forkhead box L2 JBrowse link 8 107,194,492 107,197,644 RGD:8554872
Blepharophimosis, Ptosis, and Epicanthus Inversus term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Copb2 coatomer protein complex subunit beta 2 JBrowse link 8 106,582,339 106,603,763 RGD:8554872
G Foxl2 forkhead box L2 JBrowse link 8 107,194,492 107,197,644 RGD:1598958
RGD:8554872
RGD:7240710
G Mrps22 mitochondrial ribosomal protein S22 JBrowse link 8 106,604,421 106,617,591 RGD:8554872
Blepharophimosis-Ptosis-Intellectual Disability Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc25a47 solute carrier family 25, member 47 JBrowse link 6 132,762,306 132,767,940 RGD:8554872
G Trpc4 transient receptor potential cation channel, subfamily C, member 4 JBrowse link 2 143,433,102 143,605,757 RGD:8554872
G Ube3b ubiquitin protein ligase E3B JBrowse link 12 47,946,691 47,991,973 RGD:8554872
Blepharoptosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dmd dystrophin JBrowse link X 51,149,358 53,519,271 RGD:8554872
G Foxc2 forkhead box C2 JBrowse link 19 53,044,379 53,047,081 RGD:1601216
G Opa1 OPA1, mitochondrial dynamin like GTPase JBrowse link 11 74,717,600 74,793,902 RGD:8554872
G Ryr1 ryanodine receptor 1 JBrowse link 1 87,959,596 88,066,252 RGD:8554872
Blepharospasm term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Drd5 dopamine receptor D5 JBrowse link 14 77,220,579 77,222,006 RGD:734899
RGD:11554173
Blindness term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abca4 ATP binding cassette subfamily A member 4 JBrowse link 2 225,645,539 225,783,288 RGD:8554872
G Aipl1 aryl hydrocarbon receptor-interacting protein-like 1 JBrowse link 10 58,599,690 58,631,194 RGD:1599003
G Aqp4 aquaporin 4 JBrowse link 18 6,766,009 6,782,757 RGD:8696024
G Arv1 ARV1 homolog, fatty acid homeostasis modulator JBrowse link 19 57,484,720 57,496,539 RGD:8554872
G Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase JBrowse link 9 78,862,013 78,882,061 RGD:11554173
G Cep290 centrosomal protein 290 JBrowse link 7 40,217,269 40,306,327 RGD:8554872
G Lca5 LCA5, lebercilin JBrowse link 8 90,926,309 90,984,271 RGD:11554173
G Mt-nd6 mitochondrially encoded NADH dehydrogenase 6 JBrowse link MT 13,543 14,061 RGD:8554872
G Rpe65 RPE65, retinoid isomerohydrolase JBrowse link 2 266,141,581 266,169,197 RGD:11554173
G Vegfa vascular endothelial growth factor A JBrowse link 9 17,340,341 17,355,681 RGD:11075234
G Vsx2 visual system homeobox 2 JBrowse link 6 108,285,031 108,308,588 RGD:734779
Blindness, Cortical term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gnb1 G protein subunit beta 1 JBrowse link 5 172,914,025 172,981,403 RGD:8554872
Blue Cone Monochromatism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Opn1mw opsin 1 (cone pigments), medium-wave-sensitive JBrowse link X 156,569,683 156,589,907 RGD:7240710
RGD:8554872
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fam172a family with sequence similarity 172, member A JBrowse link 2 4,942,795 5,547,744 RGD:8554872
G Nr2f1 nuclear receptor subfamily 2, group F, member 1 JBrowse link 2 5,569,954 5,579,894 RGD:7240710
RGD:8554872
G Pou5f2 POU domain class 5, transcription factor 2 JBrowse link 2 5,437,067 5,438,301 RGD:8554872
G RGD1560883 similar to KIAA0825 protein JBrowse link 2 4,195,871 4,755,065 RGD:8554872
Bothnia Retinal Dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rlbp1 retinaldehyde binding protein 1 JBrowse link 1 141,097,789 141,111,375 RGD:7240710
RGD:8554872
Bpes With Duane Retraction Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Foxl2 forkhead box L2 JBrowse link 8 107,194,492 107,197,644 RGD:11554173
RGD:8554872
Brain Small Vessel Disease with Hemorrhage term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col4a1 collagen type IV alpha 1 chain JBrowse link 16 83,522,162 83,632,153 RGD:8554872
RGD:7240710
G Col4a2 collagen type IV alpha 2 chain JBrowse link 16 83,386,388 83,522,169 RGD:8554872
Branch Retinal Vein Occlusion term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Itga2 integrin subunit alpha 2 JBrowse link 2 46,996,904 47,097,011 RGD:1582301
G Serpinf1 serpin family F member 1 JBrowse link 10 62,241,750 62,254,145 RGD:8554903
Brittle cornea syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chst14 carbohydrate sulfotransferase 14 JBrowse link 3 110,734,105 110,736,162 RGD:8554872
G Prdm5 PR/SET domain 5 JBrowse link 4 96,659,062 96,810,816 RGD:8554872
G Zfp469 zinc finger protein 469 JBrowse link 19 54,843,864 55,083,935 RGD:7240710
RGD:8554872
RGD:11554173
Brittle Cornea Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prdm5 PR/SET domain 5 JBrowse link 4 96,659,062 96,810,816 RGD:7240710
RGD:8554872
Brown Oculocutaneous Albinism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Oca2 OCA2 melanosomal transmembrane protein JBrowse link 1 114,661,970 114,987,433 RGD:9491819
RGD:8554872
CAPOS Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 JBrowse link 1 81,852,423 81,881,565 RGD:8554872
RGD:7240710
RGD:11576280
Cataract term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Agk acylglycerol kinase JBrowse link 4 68,483,345 68,561,518 RGD:8554872
G Akr1b1 aldo-keto reductase family 1 member B JBrowse link 4 61,706,866 61,720,959 RGD:1626083
RGD:11554173
RGD:8548672
RGD:8548671
RGD:8548638
G Aldh18a1 aldehyde dehydrogenase 18 family, member A1 JBrowse link 1 259,641,673 259,674,521 RGD:13434923
G Aldh3a1 aldehyde dehydrogenase 3 family, member A1 JBrowse link 10 47,490,168 47,499,855 RGD:11554173
G Anxa1 annexin A1 JBrowse link 1 237,893,983 237,910,002 RGD:7421556
RGD:7421566
G Atm ATM serine/threonine kinase JBrowse link 8 58,015,938 58,119,973 RGD:11554173
G Atp2b1 ATPase plasma membrane Ca2+ transporting 1 JBrowse link 7 41,114,606 41,223,138 RGD:11554173
G B2m beta-2 microglobulin JBrowse link 3 114,087,287 114,093,311 RGD:2311237
G Bcor BCL6 co-repressor JBrowse link X 11,570,155 11,692,022 RGD:8554872
G Bfsp2 beaded filament structural protein 2 JBrowse link 8 111,908,614 111,965,889 RGD:8554872
G Brca2 BRCA2, DNA repair associated JBrowse link 12 503,660 544,754 RGD:1599505
G Cat catalase JBrowse link 3 93,379,872 93,412,058 RGD:9068905
RGD:9068911
RGD:9068909
G Cck cholecystokinin JBrowse link 8 130,120,525 130,127,515 RGD:2313636
G Ccl11 C-C motif chemokine ligand 11 JBrowse link 10 69,434,965 69,439,566 RGD:7248415
G Cdkn1bwe cyclin-dependent kinase inhibitor 1B; white eye mutation RGD:2293616
G Clock clock circadian regulator JBrowse link 14 34,418,226 34,502,218 RGD:10401871
G Col18a1 collagen type XVIII alpha 1 chain JBrowse link 20 12,225,202 12,332,858 RGD:8554872
G Col2a1 collagen type II alpha 1 chain JBrowse link 7 139,454,945 139,484,403 RGD:11554173
G Cryaa crystallin, alpha A JBrowse link 20 10,438,444 10,442,189 RGD:1600993
RGD:8554872
RGD:11554173
RGD:1600984
G Cryab crystallin, alpha B JBrowse link 8 55,178,543 55,182,546 RGD:8554872
RGD:11554173
G Cryba1 crystallin, beta A1 JBrowse link 10 65,160,777 65,167,504 RGD:10059634
RGD:10059653
RGD:10059642
RGD:10059641
G Cryba4 crystallin, beta A4 JBrowse link 12 50,407,843 50,414,434 RGD:2303653
RGD:8554872
G Crybb1 crystallin, beta B1 JBrowse link 12 50,390,939 50,404,550 RGD:728217
RGD:8554872
RGD:11554173
G Crybb2 crystallin, beta B2 JBrowse link 12 49,577,580 49,588,555 RGD:1601011
RGD:8554872
RGD:734832
G Crybb3 crystallin, beta B3 JBrowse link 12 49,564,991 49,571,008 RGD:8554872
G Cryga crystallin, gamma A JBrowse link 9 71,828,308 71,855,900 RGD:8554872
G Crygc crystallin, gamma C JBrowse link 9 71,786,246 71,788,281 RGD:1601015
RGD:11554173
RGD:8554872
G Crygd crystallin, gamma D JBrowse link 9 71,776,568 71,778,323 RGD:1601016
RGD:8554872
RGD:11554173
RGD:1298817
G Crygs crystallin, gamma S JBrowse link 11 81,796,891 81,802,172 RGD:8554872
RGD:11554173
G Cth cystathionine gamma-lyase JBrowse link 2 264,266,959 264,293,040 RGD:1600763
G Dmd dystrophin JBrowse link X 51,149,358 53,519,271 RGD:12879865
G Epha2 Eph receptor A2 JBrowse link 5 159,845,773 159,874,203 RGD:8554872
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link 1 80,293,574 80,307,334 RGD:12880390
G Ercc6 ERCC excision repair 6, chromatin remodeling factor JBrowse link 16 8,734,028 8,804,610 RGD:11554173
G Fas Fas cell surface death receptor JBrowse link 1 252,589,785 252,624,790 RGD:2315757
G Fbxl8 F-box and leucine-rich repeat protein 8 JBrowse link 19 37,216,696 37,225,701 RGD:8554872
G Fdft1 farnesyl diphosphate farnesyl transferase 1 JBrowse link 15 46,339,248 46,367,302 RGD:1626611
G Fgf2 fibroblast growth factor 2 JBrowse link 2 124,081,072 124,134,133 RGD:8554856
G Fyco1 FYVE and coiled-coil domain containing 1 JBrowse link 8 132,844,042 132,910,905 RGD:8554872
G G6pd glucose-6-phosphate dehydrogenase JBrowse link X 156,274,800 156,293,935 RGD:10449123
G Galk1 galactokinase 1 JBrowse link 10 104,560,322 104,564,499 RGD:1300192
RGD:11554173
G Gcnt2 glucosaminyl (N-acetyl) transferase 2, I-branching enzyme JBrowse link 17 21,634,546 21,677,477 RGD:8693611
RGD:8554872
G Gja3 gap junction protein, alpha 3 JBrowse link 15 37,298,607 37,325,370 RGD:1599824
RGD:8554872
G Gja8 gap junction protein, alpha 8 JBrowse link 2 199,050,854 199,052,470 RGD:629571
RGD:8554872
RGD:2293186
RGD:11554173
G Gja8m1Cub gap junction protein, alpha 8; mutant 1 Cub RGD:2293186
G Gpx1 glutathione peroxidase 1 JBrowse link 8 117,117,430 117,118,528 RGD:11353787
G Gsr glutathione-disulfide reductase JBrowse link 16 62,197,617 62,239,987 RGD:1600697
RGD:10401885
G Gstm1 glutathione S-transferase mu 1 JBrowse link 2 210,803,869 210,809,461 RGD:7488949
RGD:7488950
G Gstt1 glutathione S-transferase theta 1 JBrowse link 20 13,799,102 13,816,527 RGD:7794821
RGD:7794839
G Hsf4 heat shock transcription factor 4 JBrowse link 19 37,225,800 37,232,048 RGD:1599774
RGD:8554872
G Ifng interferon gamma JBrowse link 7 61,337,383 61,341,419 RGD:8157612
G Il18 interleukin 18 JBrowse link 8 55,009,666 55,016,286 RGD:8655879
RGD:8655881
G Lim2 lens intrinsic membrane protein 2 JBrowse link 1 98,495,082 98,501,248 RGD:1600309
RGD:8554872
RGD:11554173
G Maf MAF bZIP transcription factor JBrowse link 19 48,179,826 48,200,995 RGD:1547889
RGD:13204738
RGD:13204737
RGD:8554872
G Map2k1 mitogen activated protein kinase kinase 1 JBrowse link 8 69,134,218 69,722,573 RGD:12801446
G Miat myocardial infarction associated transcript (non-protein coding) JBrowse link 12 50,447,251 50,461,859 RGD:8554872
G Mip major intrinsic protein of lens fiber JBrowse link 7 2,635,743 2,642,995 RGD:1599936
RGD:8554872
RGD:11554173
G Mmp3 matrix metallopeptidase 3 JBrowse link 8 5,676,608 5,698,579 RGD:8693669
G Mthfr methylenetetrahydrofolate reductase JBrowse link 5 164,844,642 164,864,360 RGD:7387253
G Ndrg2 NDRG family member 2 JBrowse link 15 28,305,820 28,314,459 RGD:11554173
G Nectin3 nectin cell adhesion molecule 3 JBrowse link 11 57,897,879 57,995,193 RGD:8554872
G Nfe2l2 nuclear factor, erythroid 2-like 2 JBrowse link 3 62,497,568 62,525,146 RGD:6893326
G Nhs NHS actin remodeling regulator JBrowse link X 34,312,102 34,675,912 RGD:8554872
G Nr3c1 nuclear receptor subfamily 3, group C, member 1 JBrowse link 18 31,728,373 32,704,022 RGD:4892118
G Ocrl OCRL, inositol polyphosphate-5-phosphatase JBrowse link X 134,742,226 134,793,411 RGD:8554872
G Ogg1 8-oxoguanine DNA glycosylase JBrowse link 4 145,282,828 145,289,367 RGD:8657151
G Pax6 paired box 6 JBrowse link 3 95,700,241 95,728,682 RGD:8552253
RGD:8554872
RGD:8552372
G Pex11b peroxisomal biogenesis factor 11 beta JBrowse link 2 198,762,138 198,771,040 RGD:8554872
G Pitx2 paired-like homeodomain 2 JBrowse link 2 233,602,732 233,621,059 RGD:8554872
G Pitx3 paired-like homeodomain 3 JBrowse link 1 265,886,766 265,899,947 RGD:8554872
RGD:11554173
RGD:11535076
G Pon1 paraoxonase 1 JBrowse link 4 30,249,749 30,276,297 RGD:8547553
G Pten phosphatase and tensin homolog JBrowse link 1 251,421,814 251,487,634 RGD:12859033
G Pxdn peroxidasin JBrowse link 6 48,866,496 48,982,368 RGD:8554872
G RGD1563986 similar to RIKEN cDNA E330009J07 gene JBrowse link 4 68,569,308 68,597,626 RGD:8554872
G Slc16a12 solute carrier family 16, member 12 JBrowse link 1 252,976,071 253,054,500 RGD:8554872
G Slc19a1 solute carrier family 19 member 1 JBrowse link 20 12,334,675 12,354,517 RGD:8554872
G Slc2a1 solute carrier family 2 member 1 JBrowse link 5 138,154,677 138,182,897 RGD:12801446
G Slc2a3 solute carrier family 2 member 3 JBrowse link 4 155,549,991 155,626,018 RGD:2313618
G Slc33a1 solute carrier family 33 member 1 JBrowse link 2 154,520,170 154,542,981 RGD:11554173
G Slc4a4 solute carrier family 4 member 4 JBrowse link 14 20,476,258 20,817,042 RGD:11554173
G Slc9a1 solute carrier family 9 member A1 JBrowse link 5 151,573,122 151,626,360 RGD:8693684
G Sod1 superoxide dismutase 1 JBrowse link 11 30,363,282 30,368,858 RGD:2312362
RGD:8655573
RGD:8655570
RGD:1581192
G Tdrd7 tudor domain containing 7 JBrowse link 5 61,557,909 61,631,719 RGD:11554173
RGD:8554872
G Tp53 tumor protein p53 JBrowse link 10 56,186,299 56,198,449 RGD:8547757
G Vim vimentin JBrowse link 17 80,882,715 80,891,200 RGD:8554872
RGD:11554173
G Xdh xanthine dehydrogenase JBrowse link 6 25,149,570 25,211,273 RGD:13208958
G Xrcc1 X-ray repair cross complementing 1 JBrowse link 1 81,412,635 81,441,680 RGD:10401127
CATARACT 11, POSTERIOR POLAR, WITH MICROPHTHALMIA AND NEURODEVELOPMENTAL ABNORMALITIES term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pitx3 paired-like homeodomain 3 JBrowse link 1 265,886,766 265,899,947 RGD:8554872
RGD:11535073
CATARACT 13 WITH ADULT i PHENOTYPE term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gcnt2 glucosaminyl (N-acetyl) transferase 2, I-branching enzyme JBrowse link 17 21,634,546 21,677,477 RGD:7240710
RGD:8554872
Cataract 15, Multiple Types term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mip major intrinsic protein of lens fiber JBrowse link 7 2,635,743 2,642,995 RGD:7240710
RGD:8554872
CATARACT 19, MULTIPLE TYPES term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lim2 lens intrinsic membrane protein 2 JBrowse link 1 98,495,082 98,501,248 RGD:7240710
RGD:8554872
Cataract 20 multiple types term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Crygs crystallin, gamma S JBrowse link 11 81,796,891 81,802,172 RGD:7240710
RGD:8554872
CATARACT 23, MULTIPLE TYPES term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cryba4 crystallin, beta A4 JBrowse link 12 50,407,843 50,414,434 RGD:7240710
RGD:8554872
Cataract 36 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tdrd7 tudor domain containing 7 JBrowse link 5 61,557,909 61,631,719 RGD:7240710
RGD:8554872
Cataract 38 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Agk acylglycerol kinase JBrowse link 4 68,483,345 68,561,518 RGD:7240710
RGD:8554872
Cataract 39, Multiple Types term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Crygb crystallin, gamma B JBrowse link 9 71,796,204 71,798,265 RGD:7240710
RGD:8554872
Cataract 42 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cryba2 crystallin, beta A2 JBrowse link 9 82,151,056 82,154,266 RGD:7240710
Cataract 43 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Unc45b unc-45 myosin chaperone B JBrowse link 10 70,262,340 70,290,445 RGD:8554872
RGD:7240710
CATARACT 44 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lss lanosterol synthase JBrowse link 20 12,844,522 12,870,474 RGD:8554872
RGD:7240710
Cataract 45 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sipa1l3 signal-induced proliferation-associated 1 like 3 JBrowse link 1 87,260,832 87,467,846 RGD:8554872
RGD:11554173
CATARACT 46, JUVENILE-ONSET term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lemd2 LEM domain containing 2 JBrowse link 20 5,779,742 5,786,213 RGD:11554173
Cataract 6, Multiple Types term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Epha2 Eph receptor A2 JBrowse link 5 159,845,773 159,874,203 RGD:7240710
RGD:8554872
Cataract 9, Multiple Types term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cryaa crystallin, alpha A JBrowse link 20 10,438,444 10,442,189 RGD:7240710
RGD:8554872
G Pitx3 paired-like homeodomain 3 JBrowse link 1 265,886,766 265,899,947 RGD:737764
Cataract and Cardiomyopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Agk acylglycerol kinase JBrowse link 4 68,483,345 68,561,518 RGD:7240710
RGD:8554872
RGD:11554173
G RGD1563986 similar to RIKEN cDNA E330009J07 gene JBrowse link 4 68,569,308 68,597,626 RGD:8554872
G Sod2 superoxide dismutase 2 JBrowse link 1 47,914,757 47,921,587 RGD:11554173
Cataract Congenital Dominant Non Nuclear term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Crygd crystallin, gamma D JBrowse link 9 71,776,568 71,778,323 RGD:8554872
Cataract Hutterite Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lemd2 LEM domain containing 2 JBrowse link 20 5,779,742 5,786,213 RGD:8554872
Cataract Microcornea Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gja8 gap junction protein, alpha 8 JBrowse link 2 199,050,854 199,052,470 RGD:11554173
RGD:8554872
G Maf MAF bZIP transcription factor JBrowse link 19 48,179,826 48,200,995 RGD:13204740
Cataract, Age-Related Cortical, 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Epha2 Eph receptor A2 JBrowse link 5 159,845,773 159,874,203 RGD:8554872
Cataract, Autosomal Dominant Nuclear term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cryba1 crystallin, beta A1 JBrowse link 10 65,160,777 65,167,504 RGD:10059633
RGD:10059638
G Gja3 gap junction protein, alpha 3 JBrowse link 15 37,298,607 37,325,370 RGD:1578473
Cataract, Autosomal Dominant, Multiple Types 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bfsp2 beaded filament structural protein 2 JBrowse link 8 111,908,614 111,965,889 RGD:7240710
RGD:8554872
Cataract, Autosomal Recessive Congenital 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fyco1 FYVE and coiled-coil domain containing 1 JBrowse link 8 132,844,042 132,910,905 RGD:7240710
RGD:8554872
Cataract, Autosomal Recessive Congenital 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Foxe3 forkhead box E3 JBrowse link 5 133,724,796 133,725,656 RGD:8554872
RGD:11554173
Cataract, Congenital Nuclear, Autosomal Recessive 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Crybb3 crystallin, beta B3 JBrowse link 12 49,564,991 49,571,008 RGD:7240710
RGD:8554872
Cataract, Congenital Nuclear, Autosomal Recessive 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cryba4 crystallin, beta A4 JBrowse link 12 50,407,843 50,414,434 RGD:8554872
G Crybb1 crystallin, beta B1 JBrowse link 12 50,390,939 50,404,550 RGD:7240710
RGD:8554872
Cataract, Congenital Zonular, with Sutural Opacities term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cryba1 crystallin, beta A1 JBrowse link 10 65,160,777 65,167,504 RGD:7240710
RGD:8554872
RGD:734831
Cataract, Congenital, Cerulean Type, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Crybb2 crystallin, beta B2 JBrowse link 12 49,577,580 49,588,555 RGD:7240710
RGD:8554872
Cataract, Congenital, Cerulean Type, 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Crygd crystallin, gamma D JBrowse link 9 71,776,568 71,778,323 RGD:7240710
RGD:8554872
Cataract, Congenital, with Microcornea or Slight Microphthalmia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nhs NHS actin remodeling regulator JBrowse link X 34,312,102 34,675,912 RGD:7240710
RGD:8554872
Cataract, Coppock-Like term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Crybb2 crystallin, beta B2 JBrowse link 12 49,577,580 49,588,555 RGD:7240710
G Crygc crystallin, gamma C JBrowse link 9 71,786,246 71,788,281 RGD:7240710
RGD:8554872
Cataract, Cortical, Juvenile-Onset term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bfsp1 beaded filament structural protein 1 JBrowse link 3 137,935,345 137,992,652 RGD:7240710
RGD:8554872
G Esr1 estrogen receptor 1 JBrowse link 1 41,192,029 41,594,799 RGD:734947
Cataract, Juvenile, with Microcornea and Glucosuria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc16a12 solute carrier family 16, member 12 JBrowse link 1 252,976,071 253,054,500 RGD:7240710
RGD:8554872
Cataract, Lamellar 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cryba4 crystallin, beta A4 JBrowse link 12 50,407,843 50,414,434 RGD:8554872
Cataract, Nuclear Diffuse Nonprogressive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Vim vimentin JBrowse link 17 80,882,715 80,891,200 RGD:7240710
RGD:8554872
Cataract, Nuclear Progressive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pax6 paired box 6 JBrowse link 3 95,700,241 95,728,682 RGD:8552277
Cataract, Nuclear Total term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wfs1 wolframin ER transmembrane glycoprotein JBrowse link 14 78,640,707 78,665,224 RGD:7240710
RGD:8554872
Cataract, Posterior Polar, 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Epha2 Eph receptor A2 JBrowse link 5 159,845,773 159,874,203 RGD:8554872
Cataract, Posterior Polar, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cryab crystallin, alpha B JBrowse link 8 55,178,543 55,182,546 RGD:7240710
RGD:8554872
Cataract, Posterior Polar, 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chmp4b charged multivesicular body protein 4B JBrowse link 3 150,188,275 150,227,453 RGD:7240710
RGD:8554872
Cataract, Posterior Polar, 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pitx3 paired-like homeodomain 3 JBrowse link 1 265,886,766 265,899,947 RGD:7240710
RGD:11554173
RGD:8554872
Cataract, Pulverulent, Juvenile-Onset term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Maf MAF bZIP transcription factor JBrowse link 19 48,179,826 48,200,995 RGD:7240710
RGD:8554872
Cataract, Punctate, Progressive Juvenile-Onset term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Crygd crystallin, gamma D JBrowse link 9 71,776,568 71,778,323 RGD:8554872
Cataract, Sutural, with Punctate and Cerulean Opacities term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Crybb2 crystallin, beta B2 JBrowse link 12 49,577,580 49,588,555 RGD:8554872
Cataract, Zonular term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hsf4 heat shock transcription factor 4 JBrowse link 19 37,225,800 37,232,048 RGD:7240710
RGD:8554872
Cataract, Zonular Pulverulent 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gja3 gap junction protein, alpha 3 JBrowse link 15 37,298,607 37,325,370 RGD:8554872
G Gja8 gap junction protein, alpha 8 JBrowse link 2 199,050,854 199,052,470 RGD:7240710
RGD:8554872
Cataract, Zonular Pulverulent 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gja3 gap junction protein, alpha 3 JBrowse link 15 37,298,607 37,325,370 RGD:7240710
RGD:8554872
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Iars2 isoleucyl-tRNA synthetase 2, mitochondrial JBrowse link 13 103,229,868 103,265,019 RGD:7240710
RGD:8554872
Cavitary Optic Disc Anomalies term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mmp19 matrix metallopeptidase 19 JBrowse link 7 3,216,392 3,224,202 RGD:7240710
Central Retinal Vein Occlusion term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Proc protein C, inactivator of coagulation factors Va and VIIIa JBrowse link 18 24,918,402 24,928,822 RGD:11100028
G Serpinf1 serpin family F member 1 JBrowse link 10 62,241,750 62,254,145 RGD:5490120
Central Serous Chorioretinopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Serpine1 serpin family E member 1 JBrowse link 12 22,641,104 22,651,482 RGD:8547738
RGD:8547804
Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Emc1 ER membrane protein complex subunit 1 JBrowse link 5 157,820,908 157,846,226 RGD:8554872
RGD:11554173
Cerebral Visual Impairment and Intellectual Disability term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acp6 acid phosphatase 6, lysophosphatidic JBrowse link 2 199,284,177 199,305,793 RGD:8554872
G Ahdc1 AT hook, DNA binding motif, containing 1 JBrowse link 5 151,209,894 151,277,192 RGD:8554872
G Amot angiomotin JBrowse link X 116,751,231 116,810,238 RGD:8554872
G Arhgef10l Rho guanine nucleotide exchange factor 10 like JBrowse link 5 159,018,373 159,089,383 RGD:8554872
G Atp6v1a ATPase H+ transporting V1 subunit A JBrowse link 11 61,531,386 61,584,634 RGD:8554872
G Dcaf6 DDB1 and CUL4 associated factor 6 JBrowse link 13 83,578,730 83,680,330 RGD:8554872
G Dlg4 discs large MAGUK scaffold protein 4 JBrowse link 10 56,625,845 56,655,543 RGD:8554872
G Gabrb2 gamma-aminobutyric acid type A receptor beta 2 subunit JBrowse link 10 27,973,694 28,193,072 RGD:8554872
G Kctd19 potassium channel tetramerization domain containing 19 JBrowse link 19 37,338,399 37,370,438 RGD:8554872
G Pgap1 post-GPI attachment to proteins 1 JBrowse link 9 61,066,170 61,134,963 RGD:8554872
G Rere arginine-glutamic acid dipeptide repeats JBrowse link 5 167,330,966 167,664,506 RGD:8554872
G Slc1a1 solute carrier family 1 member 1 JBrowse link 1 246,955,017 247,035,159 RGD:8554872
G Slc25a16 solute carrier family 25 member 16 JBrowse link 20 27,283,383 27,308,069 RGD:8554872
G Sox5 SRY box 5 JBrowse link 4 178,062,267 179,031,991 RGD:8554872
G Spata6l spermatogenesis associated 6-like JBrowse link 1 247,037,004 247,088,124 RGD:8554872
G Ufsp2 UFM1-specific peptidase 2 JBrowse link 16 49,465,958 49,484,975 RGD:8554872
G Uhmk1 U2AF homology motif kinase 1 JBrowse link 13 88,521,625 88,536,728 RGD:8554872
G Zfp30 ZFP30 zinc finger protein JBrowse link 1 87,558,762 87,569,381 RGD:8554872
Cerebrooculofacioskeletal Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link 1 80,293,574 80,307,334 RGD:1601070
RGD:8554872
RGD:7240710
Cerebrooculofacioskeletal Syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit JBrowse link 1 80,256,973 80,268,198 RGD:7240710
RGD:8554872
Cerebroretinal microangiopathy with calcifications and cysts term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ctc1 CST telomere replication complex component 1 JBrowse link 10 55,596,172 55,616,873 RGD:8554872
RGD:7240710
G Stn1 STN1, CST complex subunit JBrowse link 1 267,281,786 267,315,714 RGD:11554173
RGD:8554872
Cerebroretinal microangiopathy with calcifications and cysts 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Stn1 STN1, CST complex subunit JBrowse link 1 267,281,786 267,315,714 RGD:8554872
Cerulean Cataract term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Crybb2 crystallin, beta B2 JBrowse link 12 49,577,580 49,588,555 RGD:11554173
Charcot-Marie-Tooth Disease, Type 4B2, with Early-Onset Glaucoma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sbf2 SET binding factor 2 JBrowse link 1 174,948,361 175,420,161 RGD:8554872
Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hdac6 histone deacetylase 6 JBrowse link X 15,295,372 15,316,673 RGD:7240710
RGD:8554872
Chorioretinal dystrophy, spinocerebellar ataxia, and hypogonadotropic hypogonadism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pnpla6 patatin-like phospholipase domain containing 6 JBrowse link 12 2,068,749 2,098,139 RGD:7240710
RGD:8554872
Chorioretinitis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col2a1 collagen type II alpha 1 chain JBrowse link 7 139,454,945 139,484,403 RGD:8657355
Choroid Diseases term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Il10 interleukin 10 JBrowse link 13 47,738,933 47,743,392 RGD:7364844
G Oat ornithine aminotransferase JBrowse link 1 204,562,289 204,582,070 RGD:8554872
G Prph2 peripherin 2 JBrowse link 9 16,085,933 16,386,176 RGD:8554872
Choroidal Dystrophy, Central Areolar 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prph peripherin JBrowse link 7 140,742,406 140,746,197 RGD:7240710
G Prph2 peripherin 2 JBrowse link 9 16,085,933 16,386,176 RGD:7240710
RGD:8554872
Choroidal Neovascularization term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adipoq adiponectin, C1Q and collagen domain containing JBrowse link 11 81,330,845 81,344,488 RGD:8694464
RGD:8695931
RGD:2289282
G Aoc3 amine oxidase, copper containing 3 JBrowse link 10 89,251,370 89,259,313 RGD:2313908
G Bmp4 bone morphogenetic protein 4 JBrowse link 15 20,776,060 20,791,013 RGD:8699493
RGD:8699501
G C5 complement C5 JBrowse link 3
3
14,049,993
14,206,466
14,113,931
14,229,141
RGD:7411733
G Ccl2 C-C motif chemokine ligand 2 JBrowse link 10 69,412,065 69,413,863 RGD:8548832
G Ccr2 C-C motif chemokine receptor 2 RGD:8657364
G Ccr3 C-C motif chemokine receptor 3 JBrowse link 8 133,026,539 133,040,999 RGD:6893454
G Cfb complement factor B JBrowse link 20 4,536,206 4,542,073 RGD:7411733
G Cfh complement factor H JBrowse link 13 56,979,155 57,080,540 RGD:7364943
RGD:7365031
RGD:7365030
G F7 coagulation factor VII JBrowse link 16 81,824,610 81,834,923 RGD:2312299
G Fgf2 fibroblast growth factor 2 JBrowse link 2 124,081,072 124,134,133 RGD:8655568
G Flt1 FMS-related tyrosine kinase 1 JBrowse link 12 9,033,993 9,205,886 RGD:10402112
RGD:10402115
RGD:10402113
G Hgf hepatocyte growth factor JBrowse link 4 15,435,460 15,505,377 RGD:8548599
G Htra1 HtrA serine peptidase 1 JBrowse link 1 201,499,067 201,548,508 RGD:7394694
RGD:7394749
RGD:7394720
G Icam1 intercellular adhesion molecule 1 JBrowse link 8 22,035,287 22,047,049 RGD:4145405
G Igf1r insulin-like growth factor 1 receptor JBrowse link 1 128,924,921 129,213,816 RGD:10045869
G Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta JBrowse link 16 74,177,233 74,230,809 RGD:10045942
G Il10 interleukin 10 JBrowse link 13 47,738,933 47,743,392 RGD:7364853
RGD:7365068
G Il2 interleukin 2 JBrowse link 2 123,847,150 123,851,854 RGD:10047086
G Itgav integrin subunit alpha V JBrowse link 3 71,113,269 71,205,958 RGD:1582458
G Jam3 junctional adhesion molecule 3 JBrowse link 8 28,147,110 28,208,466 RGD:7488935
G Kdr kinase insert domain receptor JBrowse link 14 34,727,677 34,787,127 RGD:8549713
RGD:8549747
RGD:8549741
RGD:8549738
RGD:8549716
G Lep leptin JBrowse link 4 56,337,695 56,351,818 RGD:10053625
G Loxl1 lysyl oxidase-like 1 JBrowse link 8 63,067,757 63,092,124 RGD:7394725
G Mmp13 matrix metallopeptidase 13 JBrowse link 8 5,522,739 5,533,018 RGD:10043118
G Mmp2 matrix metallopeptidase 2 JBrowse link 19 15,542,771 15,570,589 RGD:8657062
RGD:13207327
G Mmp9 matrix metallopeptidase 9 JBrowse link 3 161,413,410 161,421,473 RGD:8547840
RGD:13207327
RGD:8657061
G RT1-CE13 RT1 class I, locus CE13 RGD:7365097
G Serpinf1 serpin family F member 1 JBrowse link 10 62,241,750 62,254,145 RGD:2312356
RGD:8655557
RGD:8554883
RGD:8554866
G Sod1 superoxide dismutase 1 JBrowse link 11 30,363,282 30,368,858 RGD:1581207
G Stat3 signal transducer and activator of transcription 3 JBrowse link 10 88,790,401 88,842,263 RGD:8694307
RGD:10403057
G Tlr2 toll-like receptor 2 JBrowse link 2 182,840,171 182,846,061 RGD:8552825
G Tymp thymidine phosphorylase JBrowse link 7 130,342,481 130,347,845 RGD:2293727
G Vegfa vascular endothelial growth factor A JBrowse link 9 17,340,341 17,355,681 RGD:7483614
RGD:11554173
RGD:8548599
RGD:8548459
G Vegfb vascular endothelial growth factor B JBrowse link 1 222,237,000 222,242,786 RGD:2314323
Choroidal Neovascularization, Experimental term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Serpine1 serpin family E member 1 JBrowse link 12 22,641,104 22,651,482 RGD:8547735
RGD:11073722
RGD:8547737
G Smo smoothened, frizzled class receptor JBrowse link 4 57,019,941 57,041,779 RGD:12859045
Choroidal sclerosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prph2 peripherin 2 JBrowse link 9 16,085,933 16,386,176 RGD:8553207
RGD:8554858
Choroideremia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chm CHM, Rab escort protein 1 JBrowse link X 84,666,900 84,821,775 RGD:7240710
RGD:8554872
Choroiditis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ifng interferon gamma JBrowse link 7 61,337,383 61,341,419 RGD:8157614
Chronic Uveitis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fas Fas cell surface death receptor JBrowse link 1 252,589,785 252,624,790 RGD:8662442
G Il1rn interleukin 1 receptor antagonist JBrowse link 3 1,449,778 1,468,624 RGD:8549804
COACH Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cc2d2a coiled-coil and C2 domain containing 2A JBrowse link 14 71,895,128 71,979,452 RGD:7240710
RGD:8554872
G Rpgrip1l Rpgrip1-like JBrowse link 19 17,115,266 17,208,055 RGD:7240710
RGD:8554872
G Tmem67 transmembrane protein 67 JBrowse link 5 25,666,138 25,721,056 RGD:7240710
RGD:11535946
RGD:11535944
RGD:8554872
Coats Disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fzd4 frizzled class receptor 4 JBrowse link 1 153,589,471 153,598,376 RGD:8554872
G Ndp NDP, norrin cystine knot growth factor JBrowse link X 6,791,090 6,815,586 RGD:8554872
G Prss23 protease, serine, 23 JBrowse link 1 153,732,528 153,742,111 RGD:8554872
G Rcbtb1 RCC1 and BTB domain containing protein 1 JBrowse link 15 39,622,572 39,665,335 RGD:8554872
CODAS Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lonp1 lon peptidase 1, mitochondrial JBrowse link 9 10,428,853 10,441,180 RGD:8554872
RGD:7240710
Cohen Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Vps13b vacuolar protein sorting 13 homolog B JBrowse link 7 74,118,834 74,722,341 RGD:7240710
RGD:8554872
RGD:11554173
Cole Carpenter Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G P4hb prolyl 4-hydroxylase subunit beta JBrowse link 10 109,736,459 109,748,070 RGD:8554872
RGD:11554173
G Sec24d SEC24 homolog D, COPII coat complex component JBrowse link 2 227,455,704 227,562,801 RGD:11554173
Cole-Carpenter Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G P4hb prolyl 4-hydroxylase subunit beta JBrowse link 10 109,736,459 109,748,070 RGD:7240710
RGD:8554872
Cole-Carpenter Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sec24d SEC24 homolog D, COPII coat complex component JBrowse link 2 227,455,704 227,562,801 RGD:7240710
RGD:8554872
Coloboma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Actb actin, beta JBrowse link 12 13,715,843 13,718,813 RGD:11554173
G Actg1 actin, gamma 1 JBrowse link 10 109,518,429 109,521,288 RGD:11554173
G Aldh7a1 aldehyde dehydrogenase 7 family, member A1 JBrowse link 18 51,619,007 51,651,267 RGD:11554173
G Bfsp1 beaded filament structural protein 1 JBrowse link 3 137,935,345 137,992,652 RGD:8554872
G Cdk5rap2 CDK5 regulatory subunit associated protein 2 JBrowse link 5 86,387,238 86,554,108 RGD:8554872
G Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 JBrowse link 6 2,308,179 2,316,739 RGD:8554872
G Fibp FGF1 intracellular binding protein JBrowse link 1 220,840,078 220,844,412 RGD:8554872
G Gdf3 growth differentiation factor 3 JBrowse link 4 155,417,667 155,422,014 RGD:8554872
G Lamb1 laminin subunit beta 1 JBrowse link 6 50,528,796 50,596,593 RGD:11554173
G Mab21l2 mab-21 like 2 JBrowse link 2 185,849,749 185,852,833 RGD:11553846
G Pax6 paired box 6 JBrowse link 3 95,700,241 95,728,682 RGD:7240710
RGD:8554872
G Sall2 spalt-like transcription factor 2 JBrowse link 15 28,728,471 28,746,042 RGD:8554872
RGD:7240710
G Slc16a12 solute carrier family 16, member 12 JBrowse link 1 252,976,071 253,054,500 RGD:8554872
G Yap1 yes-associated protein 1 JBrowse link 8 6,133,014 6,204,240 RGD:8554872
Coloboma of Optic Nerve term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pax6 paired box 6 JBrowse link 3 95,700,241 95,728,682 RGD:7240710
RGD:8554872
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mitf melanogenesis associated transcription factor JBrowse link 4 130,172,484 130,425,496 RGD:11554173
RGD:8554872
Coloboma, uveal, with cleft lip and palate and mental retardation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Yap1 yes-associated protein 1 JBrowse link 8 6,133,014 6,204,240 RGD:7240710
RGD:8554872
Color Vision Defects term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atf6 activating transcription factor 6 JBrowse link 13 89,053,457 89,242,531 RGD:11554173
RGD:8554872
G Bdnf brain-derived neurotrophic factor JBrowse link 3 100,768,637 100,819,216 RGD:8655850
G Cnga3 cyclic nucleotide gated channel alpha 3 JBrowse link 9 43,807,412 43,858,225 RGD:734792
RGD:8554872
G Cngb3 cyclic nucleotide gated channel beta 3 JBrowse link 5 33,097,353 33,507,467 RGD:1600870
RGD:8554872
G Gnat2 G protein subunit alpha transducin 2 JBrowse link 2 210,880,754 210,890,765 RGD:1599034
RGD:8554872
RGD:11554173
G Pde6c phosphodiesterase 6C JBrowse link 1 256,822,099 256,885,879 RGD:8554872
G Pde6h phosphodiesterase 6H JBrowse link 4 170,947,723 170,963,046 RGD:8554872
RGD:11554173
Colorblindness, Partial, Deutan Series term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Opn1mw opsin 1 (cone pigments), medium-wave-sensitive JBrowse link X 156,569,683 156,589,907 RGD:7240710
RGD:8554872
cone dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abca4 ATP binding cassette subfamily A member 4 JBrowse link 2 225,645,539 225,783,288 RGD:8554872
G Bbs5 Bardet-Biedl syndrome 5 JBrowse link 3 55,886,695 55,907,717 RGD:8554872
G Cabp4 calcium binding protein 4 JBrowse link 1 219,383,452 219,388,009 RGD:8554872
G Cacna2d4 calcium voltage-gated channel auxiliary subunit alpha2delta 4 JBrowse link 4 151,298,548 151,409,263 RGD:8554872
G Cnga3 cyclic nucleotide gated channel alpha 3 JBrowse link 9 43,807,412 43,858,225 RGD:8554872
G Guca1a guanylate cyclase activator 1A JBrowse link 9 15,609,804 15,620,030 RGD:8554872
G Guca1b guanylate cyclase activator 1B JBrowse link 9 15,621,083 15,629,017 RGD:8554872
G Gucy2d guanylate cyclase 2D, retinal JBrowse link 10 55,835,695 55,851,235 RGD:8554872
G Mall mal, T-cell differentiation protein-like JBrowse link 3 120,272,583 120,307,090 RGD:8554872
G Nphp1 nephrocystin 1 JBrowse link 3 120,316,048 120,370,089 RGD:8554872
G RGD1309594 similar to RIKEN cDNA 1810043G02; DNA segment, Chr 10, Johns Hopkins University 13, expressed JBrowse link 20 11,417,428 11,424,301 RGD:8554872
Cone Dystrophy 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cacna2d4 calcium voltage-gated channel auxiliary subunit alpha2delta 4 JBrowse link 4 151,298,548 151,409,263 RGD:8554872
G Guca1a guanylate cyclase activator 1A JBrowse link 9 15,609,804 15,620,030 RGD:7240710
RGD:8554872
G Kcnv2 potassium voltage-gated channel modifier subfamily V member 2 JBrowse link 1 245,396,880 245,475,011 RGD:8554872
G Pde6h phosphodiesterase 6H JBrowse link 4 170,947,723 170,963,046 RGD:8554872
Cone Dystrophy 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pde6c phosphodiesterase 6C JBrowse link 1 256,822,099 256,885,879 RGD:7240710
RGD:8554872
Cone Dystrophy, X-Linked, 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rpgr retinitis pigmentosa GTPase regulator JBrowse link X 14,271,012 14,331,745 RGD:8553227
Cone Rod Dystrophy Amelogenesis Imperfecta term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cnnm4 cyclin and CBS domain divalent metal cation transport mediator 4 JBrowse link 9 43,049,587 43,088,690 RGD:8554872
cone-rod dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abca4 ATP binding cassette subfamily A member 4 JBrowse link 2 225,645,539 225,783,288 RGD:8554872
G Bbs5 Bardet-Biedl syndrome 5 JBrowse link 3 55,886,695 55,907,717 RGD:8554872
G Cabp4 calcium binding protein 4 JBrowse link 1 219,383,452 219,388,009 RGD:8554872
G Cacna2d4 calcium voltage-gated channel auxiliary subunit alpha2delta 4 JBrowse link 4 151,298,548 151,409,263 RGD:8554872
G Cnga3 cyclic nucleotide gated channel alpha 3 JBrowse link 9 43,807,412 43,858,225 RGD:8554872
G Crb1 crumbs 1, cell polarity complex component JBrowse link 13 56,270,519 56,462,893 RGD:13451130
G Crx cone-rod homeobox JBrowse link 1 77,744,593 77,758,913 RGD:8554872
G Guca1a guanylate cyclase activator 1A JBrowse link 9 15,609,804 15,620,030 RGD:8554872
G Guca1b guanylate cyclase activator 1B JBrowse link 9 15,621,083 15,629,017 RGD:8554872
G Gucy2d guanylate cyclase 2D, retinal JBrowse link 10 55,835,695 55,851,235 RGD:8554872
G Mall mal, T-cell differentiation protein-like JBrowse link 3 120,272,583 120,307,090 RGD:8554872
G Nphp1 nephrocystin 1 JBrowse link 3 120,316,048 120,370,089 RGD:8554872
G Prom1 prominin 1 JBrowse link 14 71,532,321 71,637,400 RGD:8554872
G RGD1309594 similar to RIKEN cDNA 1810043G02; DNA segment, Chr 10, Johns Hopkins University 13, expressed JBrowse link 20 11,417,428 11,424,301 RGD:8554872
G Unc119 unc-119 lipid binding chaperone JBrowse link 10 65,606,919 65,612,324 RGD:8554872
Cone-Rod Dystrophy 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sema4a semaphorin 4A JBrowse link 2 187,799,568 187,823,014 RGD:7240710
RGD:8554872
Cone-Rod Dystrophy 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC691272 similar to reproductive homeobox on X chromosome, 11 JBrowse link X 124,045,727 124,052,708 RGD:7240710
RGD:8554872
Cone-Rod Dystrophy 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prom1 prominin 1 JBrowse link 14 71,532,321 71,637,400 RGD:7240710
RGD:8554872
Cone-Rod Dystrophy 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rpgrip1 RPGR interacting protein 1 JBrowse link 15 28,521,287 28,575,046 RGD:7240710
RGD:8554872
Cone-Rod Dystrophy 15 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdhr1 cadherin-related family member 1 JBrowse link 16 14,328,161 14,348,049 RGD:7240710
RGD:8554872
Cone-Rod Dystrophy 16 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MGC94199 similar to RIKEN cDNA 2610301B20; EST AI428449 JBrowse link 5
5
24,145,829
23,358,464
24,165,467
23,377,697
RGD:7240710
RGD:8554872
Cone-Rod Dystrophy 18 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rab28 RAB28, member RAS oncogene family JBrowse link 14 73,888,968 73,963,209 RGD:7240710
RGD:8554872
Cone-Rod Dystrophy 19 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ttll5 tubulin tyrosine ligase like 5 JBrowse link 6 109,693,915 109,910,479 RGD:7240710
RGD:8554872
Cone-Rod Dystrophy 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abca4 ATP binding cassette subfamily A member 4 JBrowse link 2 225,645,539 225,783,288 RGD:8554872
G Bbs5 Bardet-Biedl syndrome 5 JBrowse link 3 55,886,695 55,907,717 RGD:8554872
G Cabp4 calcium binding protein 4 JBrowse link 1 219,383,452 219,388,009 RGD:8554872
G Cacna2d4 calcium voltage-gated channel auxiliary subunit alpha2delta 4 JBrowse link 4 151,298,548 151,409,263 RGD:8554872
G Cnga3 cyclic nucleotide gated channel alpha 3 JBrowse link 9 43,807,412 43,858,225 RGD:8554872
G Crx cone-rod homeobox JBrowse link 1 77,744,593 77,758,913 RGD:7240710
RGD:8554872
G Guca1a guanylate cyclase activator 1A JBrowse link 9 15,609,804 15,620,030 RGD:8554872
G Guca1b guanylate cyclase activator 1B JBrowse link 9 15,621,083 15,629,017 RGD:8554872
G Gucy2d guanylate cyclase 2D, retinal JBrowse link 10 55,835,695 55,851,235 RGD:8554872
G Mall mal, T-cell differentiation protein-like JBrowse link 3 120,272,583 120,307,090 RGD:8554872
G Nphp1 nephrocystin 1 JBrowse link 3 120,316,048 120,370,089 RGD:8554872
G Prom1 prominin 1 JBrowse link 14 71,532,321 71,637,400 RGD:8554872
G RGD1309594 similar to RIKEN cDNA 1810043G02; DNA segment, Chr 10, Johns Hopkins University 13, expressed JBrowse link 20 11,417,428 11,424,301 RGD:8554872
G Unc119 unc-119 lipid binding chaperone JBrowse link 10 65,606,919 65,612,324 RGD:8554872
Cone-Rod Dystrophy 20 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Poc1b POC1 centriolar protein B JBrowse link 7 41,304,119 41,404,360 RGD:7240710
RGD:8554872
CONE-ROD DYSTROPHY 21 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dram2 DNA-damage regulated autophagy modulator 2 JBrowse link 2 209,160,901 209,189,641 RGD:7240710
RGD:8554872
Cone-Rod Dystrophy 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abca4 ATP binding cassette subfamily A member 4 JBrowse link 2 225,645,539 225,783,288 RGD:7240710
RGD:8554872
Cone-Rod Dystrophy 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gucy2d guanylate cyclase 2D, retinal JBrowse link 10 55,835,695 55,851,235 RGD:7240710
G Pitpnm3 PITPNM family member 3 JBrowse link 10 58,618,679 58,722,679 RGD:7240710
RGD:8554872
Cone-Rod Dystrophy 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rims1 regulating synaptic membrane exocytosis 1 JBrowse link 9 28,440,408 28,973,246 RGD:7240710
RGD:8554872
Cone-Rod Dystrophy 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adam9 ADAM metallopeptidase domain 9 JBrowse link 16 71,810,377 71,887,926 RGD:7240710
RGD:8554872
CONE-ROD DYSTROPHY AND HEARING LOSS term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cep78 centrosomal protein 78 JBrowse link 1 233,185,815 233,214,876 RGD:8554872
RGD:11554173
Cone-Rod Dystrophy, X-Linked, 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rpgr retinitis pigmentosa GTPase regulator JBrowse link X 14,271,012 14,331,745 RGD:8553225
RGD:8554872
RGD:7240710
RGD:8553232
Cone-Rod Dystrophy, X-Linked, 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cacna1f calcium voltage-gated channel subunit alpha1 F JBrowse link X 15,712,709 15,741,135 RGD:7240710
RGD:8554872
Cone-Rod Synaptic Disorder, Congenital Nonprogressive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cabp4 calcium binding protein 4 JBrowse link 1 219,383,452 219,388,009 RGD:7240710
RGD:8554872
Congenital Cataracts, Facial Dysmorphism, and Neuropathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ctdp1 CTD phosphatase subunit 1 JBrowse link 18 76,922,913 76,985,095 RGD:7240710
RGD:8554872
Congenital Cataracts, Hearing Loss, and Neurodegeneration term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc33a1 solute carrier family 33 member 1 JBrowse link 2 154,520,170 154,542,981 RGD:7240710
RGD:8554872
Congenital Fibrosis of the Extraocular Muscles term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kif21a kinesin family member 21A JBrowse link 7 132,069,962 132,200,947 RGD:8554872
Conjunctival Diseases term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Clu clusterin JBrowse link 15 42,626,612 42,665,858 RGD:9017974
G Dapk1 death associated protein kinase 1 JBrowse link 17 4,297,038 4,454,941 RGD:11554173
G Il6 interleukin 6 JBrowse link 4 3,043,231 3,047,807 RGD:7829815
G Tnfaip6 TNF alpha induced protein 6 JBrowse link 3 37,545,238 37,564,704 RGD:7777184
Conjunctivitis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C3 complement C3 JBrowse link 9 9,721,137 9,747,084 RGD:7421524
G Cfb complement factor B JBrowse link 20 4,536,206 4,542,073 RGD:7421524
G Cx3cr1 C-X3-C motif chemokine receptor 1 JBrowse link 8 128,740,756 128,754,514 RGD:9491751
G Mmp2 matrix metallopeptidase 2 JBrowse link 19 15,542,771 15,570,589 RGD:8657047
G Plg plasminogen JBrowse link 1 48,521,828 48,563,895 RGD:1601405
G Ptafr platelet-activating factor receptor JBrowse link 5 150,746,284 150,775,675 RGD:9999205
Conjunctivitis, Allergic term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccl11 C-C motif chemokine ligand 11 JBrowse link 10 69,434,965 69,439,566 RGD:2307196
G Ccl2 C-C motif chemokine ligand 2 JBrowse link 10 69,412,065 69,413,863 RGD:8548840
G Ccl5 C-C motif chemokine ligand 5 JBrowse link 10 70,739,764 70,744,303 RGD:2307196
G Ccl7 C-C motif chemokine ligand 7 JBrowse link 10 69,423,083 69,424,933 RGD:6483824
G Ccr3 C-C motif chemokine receptor 3 JBrowse link 8 133,026,539 133,040,999 RGD:6893389
G Icam1 intercellular adhesion molecule 1 JBrowse link 8 22,035,287 22,047,049 RGD:8547686
G Ifng interferon gamma JBrowse link 7 61,337,383 61,341,419 RGD:8142386
RGD:8142391
G Il10 interleukin 10 JBrowse link 13 47,738,933 47,743,392 RGD:7364837
RGD:11041889
RGD:7365076
RGD:7365027
G Il13 interleukin 13 JBrowse link 10 38,982,909 38,985,466 RGD:8549533
RGD:8549595
G Il1b interleukin 1 beta JBrowse link 3 121,876,256 121,882,637 RGD:7401198
G Il1rn interleukin 1 receptor antagonist JBrowse link 3 1,449,778 1,468,624 RGD:8549802
G Il4r interleukin 4 receptor JBrowse link 1 196,942,343 196,967,221 RGD:4890389
G Irf1 interferon regulatory factor 1 JBrowse link 10 39,109,530 39,116,532 RGD:5128787
G Lck LCK proto-oncogene, Src family tyrosine kinase JBrowse link 5 147,750,976 147,779,627 RGD:1600225
G Muc1 mucin 1, cell surface associated JBrowse link 2 188,543,137 188,547,874 RGD:7349351
G Muc2 mucin 2, oligomeric mucus/gel-forming JBrowse link 1 214,663,929 214,693,197 RGD:7349351
G Muc4 mucin 4, cell surface associated JBrowse link 11 71,242,973 71,285,217 RGD:7349351
RGD:7349400
G Pla2g2a phospholipase A2 group IIA JBrowse link 5 157,282,650 157,285,295 RGD:6482725
G Tgfb1 transforming growth factor, beta 1 JBrowse link 1 82,480,875 82,497,196 RGD:11041889
G Tlr2 toll-like receptor 2 JBrowse link 2 182,840,171 182,846,061 RGD:8552826
G Tlr4 toll-like receptor 4 JBrowse link 5 82,587,424 82,601,056 RGD:7777131
RGD:7794849
RGD:7794770
G Tlr9 toll-like receptor 9 JBrowse link 8 114,916,122 114,920,171 RGD:7794849
G Tnc tenascin C JBrowse link 5 79,789,686 79,874,555 RGD:4889589
Conjunctivitis, Bacterial term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Muc1 mucin 1, cell surface associated JBrowse link 2 188,543,137 188,547,874 RGD:7349379
Conjunctivitis, Chronic term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fas Fas cell surface death receptor JBrowse link 1 252,589,785 252,624,790 RGD:8662412
Conjunctivochalasis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gstp1 glutathione S-transferase pi 1 JBrowse link 1 219,291,679 219,294,147 RGD:8547943
G Mmp3 matrix metallopeptidase 3 JBrowse link 8 5,676,608 5,698,579 RGD:8693314
G Mmp9 matrix metallopeptidase 9 JBrowse link 3 161,413,410 161,421,473 RGD:8693314
Cornea Plana 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kera keratocan JBrowse link 7 38,858,062 38,865,515 RGD:7240710
RGD:8554872
Corneal Diseases term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cd86 CD86 molecule JBrowse link 11 67,060,305 67,117,990 RGD:4892211
G Igf1 insulin-like growth factor 1 JBrowse link 7 28,412,123 28,491,815 RGD:11554173
G Tac1 tachykinin, precursor 1 JBrowse link 4 33,638,853 33,646,819 RGD:11554173
G Zfp469 zinc finger protein 469 JBrowse link 19 54,843,864 55,083,935 RGD:11554173
Corneal Dystrophies, Hereditary term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cyp4v3 cytochrome P450, family 4, subfamily v, polypeptide 3 JBrowse link 16 50,111,803 50,136,741 RGD:8554872
G Elovl4 ELOVL fatty acid elongase 4 JBrowse link 8 91,310,690 91,338,625 RGD:1598895
G Kera keratocan JBrowse link 7 38,858,062 38,865,515 RGD:1600335
G Krt12 keratin 12 JBrowse link 10 87,328,547 87,336,710 RGD:1600169
G Slc4a11 solute carrier family 4 member 11 JBrowse link 3 123,224,242 123,236,535 RGD:8554872
G Tacstd2 tumor-associated calcium signal transducer 2 JBrowse link 4 98,341,187 98,342,887 RGD:1599194
RGD:8554872
G Tgfbi transforming growth factor, beta induced JBrowse link 17 8,400,123 8,429,338 RGD:1599387
RGD:8554872
G Vsx1 visual system homeobox 1 JBrowse link 3 146,484,235 146,494,757 RGD:1599773
RGD:11554173
RGD:8657029
G Zeb1 zinc finger E-box binding homeobox 1 JBrowse link 17 54,656,627 54,714,920 RGD:8554872
Corneal dystrophy and perceptive deafness term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc4a11 solute carrier family 4 member 11 JBrowse link 3 123,224,242 123,236,535 RGD:7240710
RGD:8554872
Corneal Dystrophy Avellino Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tgfbi transforming growth factor, beta induced JBrowse link 17 8,400,123 8,429,338 RGD:7240710
RGD:8554872
Corneal Dystrophy of Bowman Layer, Type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tgfbi transforming growth factor, beta induced JBrowse link 17 8,400,123 8,429,338 RGD:7240710
RGD:8554872
Corneal Dystrophy, Congenital Stromal term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dcn decorin JBrowse link 7 38,742,250 38,782,282 RGD:7240710
RGD:8554872
Corneal Dystrophy, Crystalline, of Schnyder term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ubiad1 UbiA prenyltransferase domain containing 1 JBrowse link 5 165,247,630 165,259,228 RGD:7240710
RGD:8554872
Corneal Dystrophy, Epithelial Basement Membrane term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tgfbi transforming growth factor, beta induced JBrowse link 17 8,400,123 8,429,338 RGD:7240710
RGD:8554872
Corneal Dystrophy, Fleck term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pikfyve phosphoinositide kinase, FYVE-type zinc finger containing JBrowse link 9 71,911,744 72,005,816 RGD:7240710
RGD:8554872
Corneal Dystrophy, Fuchs Endothelial, 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tcf4 transcription factor 4 JBrowse link 18 65,285,320 65,507,983 RGD:7240710
Corneal Dystrophy, Fuchs Endothelial, 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc4a11 solute carrier family 4 member 11 JBrowse link 3 123,224,242 123,236,535 RGD:7240710
RGD:8554872
Corneal Dystrophy, Fuchs Endothelial, 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Zeb1 zinc finger E-box binding homeobox 1 JBrowse link 17 54,656,627 54,714,920 RGD:7240710
RGD:8554872
Corneal Dystrophy, Fuchs Endothelial, 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Agbl1 ATP/GTP binding protein-like 1 JBrowse link 1 137,798,862 138,711,126 RGD:7240710
RGD:8554872
Corneal Dystrophy, Fuchs' Endothelial, 1 term browser