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ONTOLOGY REPORT - ANNOTATIONS


Term:Hereditary Eye Diseases
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Accession:DOID:9002525 term browser browse the term
Definition:Transmission of gene defects or chromosomal aberrations/abnormalities which are expressed in extreme variation in the structure or function of the eye. These may be evident at birth, but may be manifested later with progression of the disorder.
Synonyms:exact_synonym: Hereditary Eye Disease
 primary_id: MESH:D015785
 alt_id: RDO:0001905
For additional species annotation, visit the Alliance of Genome Resources.


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Hereditary Eye Diseases term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col18a1 collagen type XVIII alpha 1 chain JBrowse link 20 12,225,202 12,332,858 RGD:1600885
G Ctns cystinosin, lysosomal cystine transporter JBrowse link 10 59,749,250 59,772,475 RGD:11354731
G Guca1a guanylate cyclase activator 1A JBrowse link 9 15,609,804 15,620,030 RGD:1599353
G Inpp5e inositol polyphosphate-5-phosphatase E JBrowse link 3 3,843,307 3,856,154 RGD:11554173
G Lrat lecithin retinol acyltransferase JBrowse link 2 181,896,304 181,905,366 RGD:11554173
G Lrp2 LDL receptor related protein 2 JBrowse link 3 55,665,153 55,822,484 RGD:11554173
G Ndp norrin cystine knot growth factor NDP JBrowse link X 6,791,090 6,815,586 RGD:1600222
G Plk4 polo-like kinase 4 JBrowse link 2 127,686,911 127,705,518 RGD:11554173
G Rgs9 regulator of G-protein signaling 9 JBrowse link 10 97,509,971 97,582,188 RGD:1599999
G Rlbp1 retinaldehyde binding protein 1 JBrowse link 1 141,097,789 141,111,375 RGD:11554173
G Rpe65 retinoid isomerohydrolase RPE65 JBrowse link 2 266,141,581 266,169,197 RGD:11554173
G Timp3 TIMP metallopeptidase inhibitor 3 JBrowse link 7 23,543,125 23,594,170 RGD:1600153
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
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 Cabp4 calcium binding protein 4 JBrowse link 1 219,383,452 219,388,009 RGD:8554872
G Cacna1f calcium voltage-gated channel subunit alpha1 F JBrowse link X 15,712,709 15,741,135 RGD:7240710
RGD:8554872
RGD:13782379
G Whrn whirlin JBrowse link 5 79,235,541 79,317,206 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
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:8696013
RGD:7240710
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:11554173
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 7, transcriptional regulator 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:11554173
RGD:12790966
RGD:8554872
RGD:8552301
RGD:8552277
RGD:8552246
RGD:8551879
RGD:8551870
RGD:8551860
RGD:8551859
RGD:8551858
RGD:8551856
G Sox2 SRY-box transcription factor 2 JBrowse link 2 121,165,137 121,167,545 RGD:8554872
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 WT1 transcription factor 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 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
G Immp1l inner mitochondrial membrane peptidase subunit 1 JBrowse link 3 95,955,126 96,024,316 RGD:8554872
G Pax6 paired box 6 JBrowse link 3 95,700,241 95,728,682 RGD:7240710
RGD:8554872
G Rcn1 reticulocalbin 1 JBrowse link 3 95,404,863 95,419,110 RGD:8554872
G Wt1 WT1 transcription factor JBrowse link 3 95,133,221 95,180,574 RGD:8554872
Aniridia 2 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
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
RGD:7240710
ataxia with oculomotor apraxia type 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
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
RGD:7240710
autosomal dominant vitreoretinochoroidopathy 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
G Fth1 ferritin heavy chain 1 JBrowse link 1 226,030,940 226,033,228 RGD:8554872
autosomal dominant Wolfram syndrome 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
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
bestrophinopathy 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
G Crb1 crumbs cell polarity complex component 1 JBrowse link 13 56,270,519 56,462,893 RGD:8554872
Bietti crystalline corneoretinal 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 Cyp4v3 cytochrome P450, family 4, subfamily v, polypeptide 3 JBrowse link 16 50,111,803 50,136,741 RGD:7240710
RGD:8554872
blepharophimosis, ptosis, and epicanthus inversus syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Copb2 COPI coat 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:11554173
RGD:7240710
G Mrps22 mitochondrial ribosomal protein S22 JBrowse link 8 106,604,421 106,617,591 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
bradyopsia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rgs9 regulator of G-protein signaling 9 JBrowse link 10 97,509,971 97,582,188 RGD:7240710
RGD:8554872
G Rgs9bp regulator of G protein signaling 9 binding protein JBrowse link 1 91,855,270 91,855,983 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
buphthalmos 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:7240710
RGD:8554872
RGD:7800719
RGD:7800711
RGD:7800707
RGD:7800689
RGD:7800688
RGD:7800680
RGD:7800670
RGD:7800657
RGD:734869
G Foxc1 forkhead box C1 JBrowse link 17 33,947,501 33,951,484 RGD:13592920
G Ltbp2 latent transforming growth factor beta binding protein 2 JBrowse link 6 108,500,114 108,596,653 RGD:8554872
G Myoc myocilin JBrowse link 13 80,517,531 80,527,928 RGD:8554872
G Rmdn2 regulator of microtubule dynamics 2 JBrowse link 6 2,215,062 2,292,288 RGD:8554872
G Tyr tyrosinase JBrowse link 1 151,012,598 151,106,802 RGD:13592920
cataract 17 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:8554872
G Crybb1 crystallin, beta B1 JBrowse link 12 50,390,939 50,404,550 RGD:7240710
RGD:8554872
cataract 22 multiple types 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
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
Charcot-Marie-Tooth disease X-linked recessive 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prps1 phosphoribosyl pyrophosphate synthetase 1 JBrowse link X 111,798,233 111,820,270 RGD:7240710
RGD:8554872
Chediak-Higashi syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lyst lysosomal trafficking regulator JBrowse link 17 90,323,055 90,522,091 RGD:633300
RGD:8554872
RGD:7240710
Choroideremia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chm CHM Rab escort protein JBrowse link X 84,666,900 84,821,775 RGD:7240710
RGD:8554872
Chromosome 11p Deletion Syndrome 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:8554872
G Pax6 paired box 6 JBrowse link 3 95,700,241 95,728,682 RGD:8554872
Chromosome Xp11.3 Deletion Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rp2 RP2 activator of ARL3 GTPase JBrowse link X 2,066,298 2,116,661 RGD:7240710
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mitf melanocyte inducing transcription factor JBrowse link 4 130,172,484 130,425,496 RGD:8554872
RGD:7240710
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-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 Abhd12 abhydrolase domain containing 12, lysophospholipase JBrowse link 3 146,630,298 146,690,375 RGD:8554872
G Acbd5 acyl-CoA binding domain containing 5 JBrowse link 17 89,882,465 89,923,982 RGD:8554872
G Adam9 ADAM metallopeptidase domain 9 JBrowse link 16 71,810,377 71,887,926 RGD:8554872
G Bbs5 Bardet-Biedl syndrome 5 JBrowse link 3 55,886,695 55,907,717 RGD:8554872
G Best1 bestrophin 1 JBrowse link 1 226,033,146 226,049,893 RGD:8554872
G Cabp4 calcium binding protein 4 JBrowse link 1 219,383,452 219,388,009 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 Cdhr1 cadherin-related family member 1 JBrowse link 16 14,328,161 14,348,049 RGD:8554872
G Cep290 centrosomal protein 290 JBrowse link 7 40,217,269 40,306,327 RGD:8554872
G Cerkl ceramide kinase-like JBrowse link 3 66,268,835 66,395,615 RGD:8554872
G Cfap410 cilia and flagella associated protein 410 JBrowse link 20 11,417,428 11,424,301 RGD:8554872
G Cnga1 cyclic nucleotide gated channel subunit alpha 1 JBrowse link 14 38,155,771 38,171,107 RGD:8554872
G Cnga3 cyclic nucleotide gated channel subunit alpha 3 JBrowse link 9 43,807,412 43,858,225 RGD:8554872
G Cngb3 cyclic nucleotide gated channel subunit beta 3 JBrowse link 5 33,097,353 33,507,467 RGD:8554872
G Crb1 crumbs cell polarity complex component 1 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 Fam161a FAM161 centrosomal protein A JBrowse link 14 107,785,029 107,803,765 RGD:8554872
G Guca1a guanylate cyclase activator 1A JBrowse link 9 15,609,804 15,620,030 RGD:9068941
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 Lrat lecithin retinol acyltransferase JBrowse link 2 181,896,304 181,905,366 RGD:8554872
G Mall mal, T-cell differentiation protein-like JBrowse link 3 120,272,583 120,307,090 RGD:8554872
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:8554872
G Mir103a2 microRNA 103a-2 JBrowse link 3 123,833,671 123,833,756 RGD:8554872
G Mtln mitoregulin JBrowse link 3 120,372,665 120,373,523 RGD:8554872
G Nmnat1 nicotinamide nucleotide adenylyltransferase 1 JBrowse link 5 166,409,460 166,430,291 RGD:8554872
G Nphp1 nephrocystin 1 JBrowse link 3 120,316,048 120,370,089 RGD:8554872
G Nr2e3 nuclear receptor subfamily 2, group E, member 3 JBrowse link 8 64,797,518 64,801,587 RGD:8554872
G Pank2 pantothenate kinase 2 JBrowse link 3 123,807,911 123,841,797 RGD:8554872
G Pde6b phosphodiesterase 6B JBrowse link 14 2,328,690 2,371,913 RGD:8554872
G Pde6c phosphodiesterase 6C JBrowse link 1 256,822,099 256,885,879 RGD:8554872
G Pitpnm3 PITPNM family member 3 JBrowse link 10 58,618,679 58,722,679 RGD:8554872
G Prom1 prominin 1 JBrowse link 14 71,532,321 71,637,400 RGD:8554872
G Prph2 peripherin 2 JBrowse link 9 16,085,933 16,386,176 RGD:8554872
G Rab28 RAB28, member RAS oncogene family JBrowse link 14 73,888,968 73,963,209 RGD:8554872
G Rdh12 retinol dehydrogenase 12 JBrowse link 6 102,392,828 102,405,750 RGD:8554872
G RGD1307947 similar to RIKEN cDNA C430008C19 JBrowse link 7 40,304,964 40,315,408 RGD:8554872
G Rgr retinal G protein coupled receptor JBrowse link 16 14,286,323 14,300,972 RGD:8554872
G Rho rhodopsin JBrowse link 4 147,832,136 147,837,298 RGD:8554872
G Rims1 regulating synaptic membrane exocytosis 1 JBrowse link 9 28,440,408 28,973,246 RGD:8554872
G Rpe65 retinoid isomerohydrolase RPE65 JBrowse link 2 266,141,581 266,169,197 RGD:8554872
G Rpgr retinitis pigmentosa GTPase regulator JBrowse link X 14,271,012 14,331,745 RGD:8554872
G Rpgrip1 RPGR interacting protein 1 JBrowse link 15 28,521,287 28,575,046 RGD:8554872
G Scaper S-phase cyclin A-associated protein in the ER JBrowse link 8 60,127,039 60,593,568 RGD:8554872
G Sema4a semaphorin 4A JBrowse link 2 187,799,568 187,823,014 RGD:8554872
G Snrnp200 small nuclear ribonucleoprotein U5 subunit 200 JBrowse link 3 119,640,324 119,669,651 RGD:8554872
G Trpm6 transient receptor potential cation channel, subfamily M, member 6 JBrowse link 1 234,478,908 234,631,264 RGD:8554872
G Unc119 unc-119 lipid binding chaperone JBrowse link 10 65,606,919 65,612,324 RGD:8554872
G Ush2a usherin JBrowse link 13 106,750,738 107,434,195 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 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 14 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:8554872
RGD:7240710
G Guca1b guanylate cyclase activator 1B JBrowse link 9 15,621,083 15,629,017 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-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 Aipl1 aryl hydrocarbon receptor-interacting protein-like 1 JBrowse link 10 58,599,690 58,631,194 RGD:8554872
G Crx cone-rod homeobox JBrowse link 1 77,744,593 77,758,913 RGD:7240710
RGD:8554872
G Prom1 prominin 1 JBrowse link 14 71,532,321 71,637,400 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 Pimreg PICALM interacting mitotic regulator JBrowse link 10 58,613,588 58,618,524 RGD:8554872
G Pitpnm3 PITPNM family member 3 JBrowse link 10 58,618,679 58,722,679 RGD:7240710
RGD:8554872
cone-rod dystrophy 6 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
G Gucy2d guanylate cyclase 2D, retinal JBrowse link 10 55,835,695 55,851,235 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
G Tm2d2 TM2 domain containing 2 JBrowse link 16 71,804,368 71,809,891 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:7240710
Cone-Rod Dystrophy and Hearing Loss 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cep250 centrosomal protein 250 JBrowse link 3 151,508,366 151,544,631 RGD:7240710
RGD:8554872
Congenital Fibrosis of Extraocular Muscles, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Phox2a paired-like homeobox 2a JBrowse link 1 166,893,734 166,898,252 RGD:7240710
RGD:8554872
Congenital Fibrosis of Extraocular Muscles, 3A, with or without Extraocular Involvement term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tubb3 tubulin, beta 3 class III JBrowse link 19 56,220,759 56,229,813 RGD:7240710
RGD:8554872
Congenital Fibrosis of Extraocular Muscles, 3B 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
RGD:11554173
Congenital Fibrosis of Extraocular Muscles, 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col25a1 collagen type XXV alpha 1 chain JBrowse link 2 235,515,364 235,705,448 RGD:8554872
RGD:7240710
congenital hereditary endothelial dystrophy of cornea 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
G Vsx1 visual system homeobox 1 JBrowse link 3 146,484,235 146,494,757 RGD:8554872
Congenital Muscular Dystrophy with Central Nervous System Involvement term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fktn fukutin JBrowse link 5 70,522,001 70,578,270 RGD:8554872
congenital muscular dystrophy-dystroglycanopathy A14 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gmppb GDP-mannose pyrophosphorylase B JBrowse link 8 116,826,251 116,856,159 RGD:7240710
RGD:8554872
congenital muscular dystrophy-dystroglycanopathy A7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ankmy2 ankyrin repeat and MYND domain containing 2 JBrowse link 6 55,646,905 55,689,223 RGD:8554872
G Bzw2 basic leucine zipper and W2 domains 2 JBrowse link 6 55,586,754 55,647,650 RGD:8554872
G Crppa CDP-L-ribitol pyrophosphorylase A JBrowse link 6 55,880,136 56,159,466 RGD:7240710
RGD:8554872
G Lrrc72 leucine rich repeat containing 72 JBrowse link 6 55,694,269 55,757,234 RGD:8554872
G Sostdc1 sclerostin domain containing 1 JBrowse link 6 55,812,820 55,816,994 RGD:8554872
congenital muscular dystrophy-dystroglycanopathy type A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) JBrowse link 5 135,007,343 135,017,220 RGD:8554872
G Tspan1 tetraspanin 1 JBrowse link 5 135,019,206 135,032,412 RGD:8554872
congenital muscular dystrophy-dystroglycanopathy type A1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G B4gat1 beta-1,4-glucuronyltransferase 1 JBrowse link 1 220,322,854 220,325,076 RGD:8554872
G Fkrp fukutin related protein JBrowse link 1 78,733,461 78,740,803 RGD:8554872
RGD:13592920
G Fktn fukutin JBrowse link 5 70,522,001 70,578,270 RGD:8554872
RGD:13592920
G Large1 LARGE xylosyl- and glucuronyltransferase 1 JBrowse link 19 12,481,563 12,945,320 RGD:13592920
G Pomt1 protein-O-mannosyltransferase 1 JBrowse link 3 11,253,424 11,271,873 RGD:8554872
RGD:7240710
G Pomt2 protein-O-mannosyltransferase 2 JBrowse link 6 111,137,329 111,176,991 RGD:8554872
RGD:13592920
congenital muscular dystrophy-dystroglycanopathy type A10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rxylt1 ribitol xylosyltransferase 1 JBrowse link 7 64,329,341 64,341,201 RGD:7240710
RGD:8554872
congenital muscular dystrophy-dystroglycanopathy type A11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G B3galnt2 beta-1,3-N-acetylgalactosaminyltransferase 2 JBrowse link 17 54,027,859 54,070,399 RGD:7240710
RGD:8554872
G Tbce tubulin folding cofactor E JBrowse link 17 53,983,126 54,029,028 RGD:8554872
congenital muscular dystrophy-dystroglycanopathy type A12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fnta farnesyltransferase, CAAX box, alpha JBrowse link 16 70,834,957 70,854,724 RGD:8554872
G Hook3 hook microtubule-tethering protein 3 JBrowse link 16 70,710,347 70,818,789 RGD:8554872
G Pomk protein-O-mannose kinase JBrowse link 16 70,854,825 70,869,653 RGD:7240710
RGD:8554872
G Rnf170 ring finger protein 170 JBrowse link 16 70,684,886 70,710,147 RGD:8554872
G Thap1 THAP domain containing 1 JBrowse link 16 70,661,360 70,665,831 RGD:8554872
congenital muscular dystrophy-dystroglycanopathy type A13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G B4gat1 beta-1,4-glucuronyltransferase 1 JBrowse link 1 220,322,854 220,325,076 RGD:8554872
RGD:7240710
congenital muscular dystrophy-dystroglycanopathy type A2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pomt2 protein-O-mannosyltransferase 2 JBrowse link 6 111,137,329 111,176,991 RGD:8554872
RGD:7240710
congenital muscular dystrophy-dystroglycanopathy type A3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) JBrowse link 5 135,007,343 135,017,220 RGD:8554872
RGD:7240710
G Tspan1 tetraspanin 1 JBrowse link 5 135,019,206 135,032,412 RGD:8554872
congenital muscular dystrophy-dystroglycanopathy type A5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fkrp fukutin related protein JBrowse link 1 78,733,461 78,740,803 RGD:7240710
RGD:8554872
congenital muscular dystrophy-dystroglycanopathy type A6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Large1 LARGE xylosyl- and glucuronyltransferase 1 JBrowse link 19 12,481,563 12,945,320 RGD:8554872
RGD:7240710
congenital muscular dystrophy-dystroglycanopathy type A8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pomgnt2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) JBrowse link 8 130,615,482 130,631,144 RGD:7240710
RGD:8554872
congenital muscular dystrophy-dystroglycanopathy type A9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dag1 dystroglycan 1 JBrowse link 8 116,980,501 116,993,182 RGD:8554872
RGD:7240710
congenital stationary night 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 Cabp4 calcium binding protein 4 JBrowse link 1 219,383,452 219,388,009 RGD:8554872
G Cacna1f calcium voltage-gated channel subunit alpha1 F JBrowse link X 15,712,709 15,741,135 RGD:734671
RGD:8554872
RGD:13782370
RGD:11554173
G Cacna1f csnb calcium voltage-gated channel subunit alpha1 F; congenital stationary night blindness mutant RGD:13782370
G Dennd4a DENN domain containing 4A JBrowse link 8 70,293,355 70,406,675 RGD:8554872
G Gnat1 G protein subunit alpha transducin 1 JBrowse link 8 116,433,302 116,438,038 RGD:8554872
RGD:11554173
G Gnb3 G protein subunit beta 3 JBrowse link 4 157,352,558 157,359,237 RGD:11554173
G Gpr179 G protein-coupled receptor 179 JBrowse link 10 85,273,839 85,289,886 RGD:8554872
RGD:11554173
G Grk1 G protein-coupled receptor kinase 1 JBrowse link 16 81,153,489 81,165,442 RGD:8554872
G Grm6 glutamate metabotropic receptor 6 JBrowse link 10 36,345,503 36,363,416 RGD:11554173
RGD:8554872
G Lrit3 leucine-rich repeat, Ig-like and transmembrane domains 3 JBrowse link 2 235,213,017 235,232,894 RGD:8554872
RGD:11554173
G Nyx nyctalopin JBrowse link X 10,197,547 10,218,583 RGD:11554173
RGD:8554872
G Pde6b phosphodiesterase 6B JBrowse link 14 2,328,690 2,371,913 RGD:11554173
RGD:8554872
G Rho rhodopsin JBrowse link 4 147,832,136 147,837,298 RGD:11554173
RGD:8554872
G Rpgr retinitis pigmentosa GTPase regulator JBrowse link X 14,271,012 14,331,745 RGD:8554872
G Sag S-antigen visual arrestin JBrowse link 9 94,926,901 94,972,162 RGD:11554173
G Slc24a1 solute carrier family 24 member 1 JBrowse link 8 70,409,683 70,438,352 RGD:8554872
RGD:11554173
G Trpm1 transient receptor potential cation channel, subfamily M, member 1 JBrowse link 1 124,983,391 125,101,759 RGD:7175555
RGD:8554872
RGD:11554173
RGD:7183085
RGD:7183084
G Trpv3 transient receptor potential cation channel, subfamily V, member 3 JBrowse link 10 59,829,755 59,863,780 RGD:7175555
G Ush2a usherin JBrowse link 13 106,750,738 107,434,195 RGD:8554872
congenital stationary night blindness 1A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nyx nyctalopin JBrowse link X 10,197,547 10,218,583 RGD:7240710
RGD:8554872
congenital stationary night blindness 1B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dennd4a DENN domain containing 4A JBrowse link 8 70,293,355 70,406,675 RGD:8554872
G Grm6 glutamate metabotropic receptor 6 JBrowse link 10 36,345,503 36,363,416 RGD:7240710
RGD:8554872
G Slc24a1 solute carrier family 24 member 1 JBrowse link 8 70,409,683 70,438,352 RGD:8554872
congenital stationary night blindness 1C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dennd4a DENN domain containing 4A JBrowse link 8 70,293,355 70,406,675 RGD:8554872
G Mir211 microRNA 211 JBrowse link 1 125,042,119 125,042,224 RGD:8554872
G Slc24a1 solute carrier family 24 member 1 JBrowse link 8 70,409,683 70,438,352 RGD:8554872
G Trpm1 transient receptor potential cation channel, subfamily M, member 1 JBrowse link 1 124,983,391 125,101,759 RGD:7240710
RGD:8554872
congenital stationary night blindness 1D term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dennd4a DENN domain containing 4A JBrowse link 8 70,293,355 70,406,675 RGD:8554872
G Slc24a1 solute carrier family 24 member 1 JBrowse link 8 70,409,683 70,438,352 RGD:7240710
RGD:8554872
congenital stationary night blindness 1E term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dennd4a DENN domain containing 4A JBrowse link 8 70,293,355 70,406,675 RGD:8554872
G Gpr179 G protein-coupled receptor 179 JBrowse link 10 85,273,839 85,289,886 RGD:7240710
RGD:8554872
G Slc24a1 solute carrier family 24 member 1 JBrowse link 8 70,409,683 70,438,352 RGD:8554872
congenital stationary night blindness 1F term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lrit3 leucine-rich repeat, Ig-like and transmembrane domains 3 JBrowse link 2 235,213,017 235,232,894 RGD:7240710
RGD:8554872
congenital stationary night blindness 1G term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gnat1 G protein subunit alpha transducin 1 JBrowse link 8 116,433,302 116,438,038 RGD:7240710
RGD:8554872
congenital stationary night blindness 1H term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdca3 cell division cycle associated 3 JBrowse link 4 157,347,876 157,351,889 RGD:8554872
G Gnb3 G protein subunit beta 3 JBrowse link 4 157,352,558 157,359,237 RGD:8554872
RGD:7240710
Congenital Stationary Night Blindness 1I 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
congenital stationary night blindness 2A 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
Congenital Stationary Night Blindness 2B 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
G Gpr152 G protein-coupled receptor 152 JBrowse link 1 219,389,418 219,394,124 RGD:8554872
congenital stationary night blindness autosomal dominant 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rho rhodopsin JBrowse link 4 147,832,136 147,837,298 RGD:7240710
RGD:8554872
congenital stationary night blindness autosomal dominant 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pde6b phosphodiesterase 6B JBrowse link 14 2,328,690 2,371,913 RGD:7240710
RGD:8554872
congenital stationary night blindness autosomal dominant 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gnat1 G protein subunit alpha transducin 1 JBrowse link 8 116,433,302 116,438,038 RGD:7240710
RGD:8554872
congenital stromal corneal dystrophy 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
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 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:8554872
G Elovl4 ELOVL fatty acid elongase 4 JBrowse link 8 91,310,690 91,338,625 RGD:1598895
G Grhl2 grainyhead-like transcription factor 2 JBrowse link 7 76,058,623 76,197,360 RGD:8554872
G Itpa inosine triphosphatase JBrowse link 3 123,209,611 123,221,266 RGD:8554872
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
RGD:13592920
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, 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
RGD:8554872
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
Symbol Object Name JBrowse Chr Start Stop Reference
G Col8a2 collagen type VIII alpha 2 chain JBrowse link 5 144,308,527 144,335,142 RGD:7240710
RGD:8554872
corneal dystrophy-perceptive deafness syndrome 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 endothelial dystrophy 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:8554872
Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness 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:8554872
dominant optic atrophy plus 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:7240710
RGD:8554872
Duane retraction syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chn1 chimerin 1 JBrowse link 3 60,512,360 60,668,413 RGD:8554872
RGD:11554173
G Mafb MAF bZIP transcription factor B JBrowse link 3 156,338,993 156,340,913 RGD:11554173
G Sall4 spalt-like transcription factor 4 JBrowse link 3 165,520,155 165,538,176 RGD:11556210
RGD:11554173
RGD:11532205
RGD:11556232
RGD:11556231
RGD:11556215
RGD:11556211
Duane Retraction Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mafb MAF bZIP transcription factor B JBrowse link 3 156,338,993 156,340,913 RGD:8554872
Duane Retraction Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chn1 chimerin 1 JBrowse link 3 60,512,360 60,668,413 RGD:8554872
RGD:7240710
Duane Retraction Syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mafb MAF bZIP transcription factor B JBrowse link 3 156,338,993 156,340,913 RGD:8554872
RGD:7240710
EDICT Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mir184 microRNA 184 JBrowse link 8 97,175,657 97,175,733 RGD:7240710
RGD:8554872
enhanced S-cone syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nr2e3 nuclear receptor subfamily 2, group E, member 3 JBrowse link 8 64,797,518 64,801,587 RGD:7240710
RGD:8554872
G Nrl neural retina leucine zipper JBrowse link 15 34,197,115 34,201,408 RGD:8554872
RGD:13592920
G Prph2 peripherin 2 JBrowse link 9 16,085,933 16,386,176 RGD:8554862
epithelial basement membrane dystrophy 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
epithelial recurrent erosion dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col17a1 collagen type XVII alpha 1 chain JBrowse link 1 267,416,681 267,465,049 RGD:8554872
RGD:7240710
exudative vitreoretinopathy 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:11554173
G Fzd4 frizzled class receptor 4 JBrowse link 1 153,589,471 153,598,376 RGD:13592920
RGD:8554872
G Lrp5 LDL receptor related protein 5 JBrowse link 1 218,816,833 218,920,147 RGD:8554872
RGD:11554173
G Ndp norrin cystine knot growth factor NDP JBrowse link X 6,791,090 6,815,586 RGD:13592920
G Prss23 serine protease 23 JBrowse link 1 153,732,528 153,742,111 RGD:8554872
G Tspan12 tetraspanin 12 JBrowse link 4 48,852,823 48,953,240 RGD:13592920
RGD:8554872
G Znf408 zinc finger protein 408 JBrowse link 3 80,549,102 80,555,186 RGD:8554872
exudative vitreoretinopathy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccdc81 coiled-coil domain containing 81 JBrowse link 1 154,064,132 154,111,999 RGD:8554872
G Ccdc83 coiled-coil domain containing 83 JBrowse link 1
1
154,478,426
156,485,039
154,507,075
156,509,513
RGD:8554872
G Ccdc89 coiled-coil domain containing 89 JBrowse link 1 154,606,461 154,607,723 RGD:8554872
G Crebzf CREB/ATF bZIP transcription factor JBrowse link 1 156,290,215 156,296,891 RGD:8554872
G Ctnnb1 catenin beta 1 JBrowse link 8 129,601,511 129,628,378 RGD:8554872
G Dlg2 discs large MAGUK scaffold protein 2 JBrowse link 1 154,916,274 157,274,077 RGD:8554872
G Eed embryonic ectoderm development JBrowse link 1 154,189,252 154,216,340 RGD:8554872
G Fzd4 frizzled class receptor 4 JBrowse link 1 153,589,471 153,598,376 RGD:1598999
RGD:8554872
RGD:7240710
G Hikeshi heat shock protein nuclear import factor JBrowse link 1 154,147,098 154,170,429 RGD:8554872
G Lrp5 LDL receptor related protein 5 JBrowse link 1 218,816,833 218,920,147 RGD:11554173
G Me3 malic enzyme 3 JBrowse link 1 153,861,535 154,058,608 RGD:8554872
G Picalm phosphatidylinositol binding clathrin assembly protein JBrowse link 1 154,377,229 154,458,966 RGD:8554872
G Prss23 serine protease 23 JBrowse link 1 153,732,528 153,742,111 RGD:8554872
G Sytl2 synaptotagmin-like 2 JBrowse link 1
1
154,536,592
156,334,298
154,599,515
156,440,327
RGD:8554872
G Tmem126a transmembrane protein 126A JBrowse link 1 156,283,105 156,291,057 RGD:8554872
G Tmem126b transmembrane protein 126B JBrowse link 1 156,262,220 156,274,207 RGD:8554872
G Tmem135 transmembrane protein 135 JBrowse link 1 152,886,496 153,096,225 RGD:8554872
G Znf408 zinc finger protein 408 JBrowse link 3 80,549,102 80,555,186 RGD:8554872
exudative vitreoretinopathy 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lrp5 LDL receptor related protein 5 JBrowse link 1 218,816,833 218,920,147 RGD:7240710
RGD:8554872
exudative vitreoretinopathy 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tspan12 tetraspanin 12 JBrowse link 4 48,852,823 48,953,240 RGD:7240710
RGD:8554872
exudative vitreoretinopathy 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Znf408 zinc finger protein 408 JBrowse link 3 80,549,102 80,555,186 RGD:8554872
RGD:7240710
exudative vitreoretinopathy 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ctnnb1 catenin beta 1 JBrowse link 8 129,601,511 129,628,378 RGD:8554872
RGD:7240710
familial benign fleck retina term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pla2g5 phospholipase A2, group V JBrowse link 5 157,247,601 157,268,968 RGD:7240710
RGD:8554872
Finnish type amyloidosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gsn gelsolin JBrowse link 3 14,456,106 14,508,922 RGD:7240710
RGD:8554872
Fleck corneal dystrophy 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
Foveal Hypoplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atoh7 atonal bHLH transcription factor 7 JBrowse link 20 27,082,961 27,083,410 RGD:8554872
G Nrl neural retina leucine zipper JBrowse link 15 34,197,115 34,201,408 RGD:8554872
G Opa3 OPA3, outer mitochondrial membrane lipid metabolism regulator JBrowse link 1 80,141,630 80,160,145 RGD:8554872
G Slc38a8 solute carrier family 38, member 8 JBrowse link 19 52,110,517 52,142,500 RGD:8554872
G Tyr tyrosinase JBrowse link 1 151,012,598 151,106,802 RGD:8554872
Foveal Hypoplasia and Anterior Segment Dysgenesis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc38a8 solute carrier family 38, member 8 JBrowse link 19 52,110,517 52,142,500 RGD:7240710
RGD:8554872
Fuchs' endothelial dystrophy 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:13592920
G C3 complement C3 JBrowse link 9 9,721,137 9,747,084 RGD:7401271
G Cdkn1a cyclin-dependent kinase inhibitor 1A JBrowse link 20 6,348,422 6,358,864 RGD:8661808
G Clu clusterin JBrowse link 15 42,626,612 42,665,858 RGD:8696020
RGD:8661808
G Col8a2 collagen type VIII alpha 2 chain JBrowse link 5 144,308,527 144,335,142 RGD:13592920
G Loxhd1 lipoxygenase homology domains 1 JBrowse link 18 73,645,365 73,812,271 RGD:11072687
G Slc4a11 solute carrier family 4 member 11 JBrowse link 3 123,224,242 123,236,535 RGD:13592920
G Tcf4 transcription factor 4 JBrowse link 18 65,285,320 65,507,983 RGD:13592920
G Zeb1 zinc finger E-box binding homeobox 1 JBrowse link 17 54,656,627 54,714,920 RGD:13592920
Fukuyama congenital muscular dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dag1 dystroglycan 1 JBrowse link 8 116,980,501 116,993,182 RGD:11537476
G Fkrp fukutin related protein JBrowse link 1 78,733,461 78,740,803 RGD:8554872
G Fktn fukutin JBrowse link 5 70,522,001 70,578,270 RGD:7240710
RGD:8554872
RGD:11537476
gelatinous drop-like corneal dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Clu clusterin JBrowse link 15 42,626,612 42,665,858 RGD:8699502
G Tacstd2 tumor-associated calcium signal transducer 2 JBrowse link 4 98,341,187 98,342,887 RGD:7240710
RGD:8554872
Gillespie syndrome 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:8554872
RGD:7240710
Glaucoma 1, Open Angle, P term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tbk1 TANK-binding kinase 1 JBrowse link 7 63,655,247 63,687,978 RGD:8554872
Glaucoma 3, Primary Infantile, B 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
RGD:8554872
G Ltbp2 latent transforming growth factor beta binding protein 2 JBrowse link 6 108,500,114 108,596,653 RGD:11554173
G Tek TEK receptor tyrosine kinase JBrowse link 5 113,725,717 113,852,799 RGD:11554173
granular corneal dystrophy 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
granular corneal dystrophy 2 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
Graves Ophthalmopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cat catalase JBrowse link 3 93,379,872 93,412,058 RGD:9071200
RGD:9086875
G Ccl2 C-C motif chemokine ligand 2 JBrowse link 10 69,412,065 69,413,863 RGD:8549459
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 JBrowse link 9 67,699,397 67,706,068 RGD:7421511
RGD:7421523
RGD:7421521
G Icam1 intercellular adhesion molecule 1 JBrowse link 8 22,035,287 22,047,049 RGD:8158124
G Ifng interferon gamma JBrowse link 7 61,337,383 61,341,419 RGD:7794734
G Igf1 insulin-like growth factor 1 JBrowse link 7 28,412,123 28,491,815 RGD:8548854
G Il10 interleukin 10 JBrowse link 13 47,738,933 47,743,392 RGD:7364859
RGD:7365083
G Il18 interleukin 18 JBrowse link 8 55,009,666 55,016,286 RGD:8655878
G Il1a interleukin 1 alpha JBrowse link 3 121,824,712 121,836,122 RGD:7794734
G Il1rn interleukin 1 receptor antagonist JBrowse link 3 1,449,778 1,468,624 RGD:7387296
RGD:8549808
G Il2 interleukin 2 JBrowse link 2 123,847,150 123,851,854 RGD:8662939
G Il23r interleukin 23 receptor JBrowse link 4 98,203,788 98,306,729 RGD:7421521
RGD:8549554
G Il3 interleukin 3 JBrowse link 10 39,620,535 39,622,973 RGD:5686901
G Kif1a kinesin family member 1A JBrowse link 9 100,171,851 100,253,626 RGD:12911230
G Pparg peroxisome proliferator-activated receptor gamma JBrowse link 4 147,274,055 147,399,383 RGD:8552818
G Ptgs2 prostaglandin-endoperoxide synthase 2 JBrowse link 13 67,351,230 67,356,920 RGD:11554173
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 JBrowse link 2 206,342,066 206,390,348 RGD:7829763
G Scd stearoyl-CoA desaturase JBrowse link 1 264,159,966 264,173,061 RGD:11554173
G Serpine1 serpin family E member 1 JBrowse link 12 22,641,104 22,651,482 RGD:8547756
G Tnf tumor necrosis factor JBrowse link 20 5,189,382 5,192,000 RGD:7365073
RGD:12904066
RGD:7794734
G Tshr thyroid stimulating hormone receptor JBrowse link 6 115,170,290 115,306,871 RGD:8548662
RGD:11554173
RGD:8548673
Griscelli syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rab27a RAB27A, member RAS oncogene family JBrowse link 8 79,722,334 79,776,228 RGD:8554872
Griscelli syndrome type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myo5a myosin VA JBrowse link 8 82,038,966 82,156,507 RGD:7240710
RGD:8554872
Griscelli syndrome type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rab27a RAB27A, member RAS oncogene family JBrowse link 8 79,722,334 79,776,228 RGD:7240710
RGD:8554872
Griscelli syndrome type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mlph melanophilin JBrowse link 9 98,072,965 98,108,429 RGD:7240710
RGD:8554872
G Myo5a myosin VA JBrowse link 8 82,038,966 82,156,507 RGD:8554872
Growth Retardation, Alopecia, Pseudoanodontia and Optic Atrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Antxr1 ANTXR cell adhesion molecule 1 JBrowse link 4 118,946,267 119,131,202 RGD:9684854
RGD:8554872
RGD:7240710
gyrate atrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Oat ornithine aminotransferase JBrowse link 1 204,562,289 204,582,070 RGD:1600292
RGD:8554872
RGD:7240710
hereditary night blindness term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Grk1 G protein-coupled receptor kinase 1 JBrowse link 16 81,153,489 81,165,442 RGD:11554173
RGD:8554872
G Sag S-antigen visual arrestin JBrowse link 9 94,926,901 94,972,162 RGD:734491
RGD:8554872
RGD:11554173
G Ush2a usherin JBrowse link 13 106,750,738 107,434,195 RGD:8554872
Hereditary Optic Atrophies term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cask calcium/calmodulin dependent serine protein kinase JBrowse link X 9,815,652 10,156,155 RGD:734690
G Mt-nd4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 JBrowse link MT 10,160 11,537 RGD:11554173
G Mt-nd6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 JBrowse link MT 13,543 14,061 RGD:11554173
G Tmem126a transmembrane protein 126A JBrowse link 1 156,283,105 156,291,057 RGD:8554872
Hermansky-Pudlak syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ap3b1 adaptor related protein complex 3 subunit beta 1 JBrowse link 2 24,022,815 24,227,522 RGD:1578409
RGD:8554872
RGD:11087577
RGD:11087576
G Ap3d1 adaptor related protein complex 3 subunit delta 1 JBrowse link 7 11,838,639 11,873,992 RGD:11554173
G Bloc1s3 biogenesis of lysosomal organelles complex-1, subunit 3 JBrowse link 1 80,414,766 80,417,385 RGD:8554872
RGD:11554173
G Bloc1s4 biogenesis of lysosomal organelles complex 1 subunit 4 JBrowse link 14 79,013,808 79,015,108 RGD:13592920
G Bloc1s5 biogenesis of lysosomal organelles complex 1 subunit 5 JBrowse link 17 26,808,193 26,833,257 RGD:13592920
G Bloc1s6 biogenesis of lysosomal organelles complex 1 subunit 6 JBrowse link 3 114,869,478 114,880,218 RGD:8554872
RGD:11554173
G Ccl5 C-C motif chemokine ligand 5 JBrowse link 10 70,739,764 70,744,303 RGD:4891476
G Cp ceruloplasmin JBrowse link 2 104,744,249 104,803,034 RGD:8554872
G Cxcr4 C-X-C motif chemokine receptor 4 JBrowse link 13 45,314,952 45,318,856 RGD:11352293
G Dtnbp1 dystrobrevin binding protein 1 JBrowse link 17 20,090,136 20,182,332 RGD:11251756
RGD:8554872
RGD:11554173
G Hps1 HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 JBrowse link 1 261,989,178 262,015,282 RGD:8554872
G Hps3 HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 JBrowse link 2 104,789,423 104,832,964 RGD:1599538
RGD:8554872
RGD:11554173
G Hps4 HPS4, biogenesis of lysosomal organelles complex 3 subunit 2 JBrowse link 12 50,285,239 50,315,893 RGD:1599546
RGD:8554872
RGD:11554173
RGD:11354897
RGD:11353873
G Hps5 HPS5, biogenesis of lysosomal organelles complex 2 subunit 2 JBrowse link 1 102,810,114 102,849,430 RGD:11072072
RGD:8554872
RGD:11554173
G Hps6 HPS6, biogenesis of lysosomal organelles complex 2 subunit 3 JBrowse link 1 265,761,818 265,764,427 RGD:632833
RGD:8554872
RGD:11554173
RGD:11073544
G Kxd1 KxDL motif containing 1 JBrowse link 16 20,652,863 20,666,581 RGD:13592920
G Rab38 RAB38, member RAS oncogene family JBrowse link 1 152,072,716 152,153,449 RGD:2324690
G Rab38ru Rab38, member of RAS oncogene family, ruby allele RGD:2324690
G Rabggta Rab geranylgeranyltransferase subunit alpha JBrowse link 15 34,393,419 34,400,466 RGD:13592920
G Slc7a11 solute carrier family 7 member 11 JBrowse link 2 139,453,774 139,528,479 RGD:13592920
G Trappc6a trafficking protein particle complex 6A JBrowse link 1 80,417,514 80,424,429 RGD:8554872
G Vps33a VPS33A core subunit of CORVET and HOPS complexes JBrowse link 12 38,459,816 38,482,903 RGD:13592920
Hermansky-Pudlak syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ap3d1 adaptor related protein complex 3 subunit delta 1 JBrowse link 7 11,838,639 11,873,992 RGD:13592920
G Dtnbp1 dystrobrevin binding protein 1 JBrowse link 17 20,090,136 20,182,332 RGD:8554872
G Hps1 HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 JBrowse link 1 261,989,178 262,015,282 RGD:1625056
RGD:8554872
RGD:7240710
G Rab27a RAB27A, member RAS oncogene family JBrowse link 8 79,722,334 79,776,228 RGD:13592920
Hermansky-Pudlak Syndrome 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ap3d1 adaptor related protein complex 3 subunit delta 1 JBrowse link 7 11,838,639 11,873,992 RGD:8554872
RGD:7240710
Hermansky-Pudlak syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ap3b1 adaptor related protein complex 3 subunit beta 1 JBrowse link 2 24,022,815 24,227,522 RGD:7240710
RGD:8554872
G Ap3d1 adaptor related protein complex 3 subunit delta 1 JBrowse link 7 11,838,639 11,873,992 RGD:13592920
G Hps3 HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 JBrowse link 2 104,789,423 104,832,964 RGD:8554872
Hermansky-Pudlak syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cp ceruloplasmin JBrowse link 2 104,744,249 104,803,034 RGD:8554872
G Hps3 HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 JBrowse link 2 104,789,423 104,832,964 RGD:7240710
RGD:8554872
RGD:11041885
Hermansky-Pudlak syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hps4 HPS4, biogenesis of lysosomal organelles complex 3 subunit 2 JBrowse link 12 50,285,239 50,315,893 RGD:7240710
RGD:8554872
Hermansky-Pudlak syndrome 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hps5 HPS5, biogenesis of lysosomal organelles complex 2 subunit 2 JBrowse link 1 102,810,114 102,849,430 RGD:7240710
RGD:8554872
Hermansky-Pudlak syndrome 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hps6 HPS6, biogenesis of lysosomal organelles complex 2 subunit 3 JBrowse link 1 265,761,818 265,764,427 RGD:7240710
RGD:8554872
Hermansky-Pudlak syndrome 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dtnbp1 dystrobrevin binding protein 1 JBrowse link 17 20,090,136 20,182,332 RGD:7240710
RGD:8554872
Hermansky-Pudlak syndrome 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bloc1s3 biogenesis of lysosomal organelles complex-1, subunit 3 JBrowse link 1 80,414,766 80,417,385 RGD:7240710
RGD:8554872
Hermansky-Pudlak syndrome 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bloc1s6 biogenesis of lysosomal organelles complex 1 subunit 6 JBrowse link 3 114,869,478 114,880,218 RGD:7240710
RGD:8554872
high hyperopia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mfrp membrane frizzled-related protein JBrowse link 8 48,437,720 48,443,421 RGD:11076374
hydrophthalmos 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:1599716
G Flt1 Fms related receptor tyrosine kinase 1 JBrowse link 12 9,033,993 9,205,886 RGD:8549773
G Kdr kinase insert domain receptor JBrowse link 14 34,727,677 34,787,127 RGD:8549773
Ichthyosiform Erythroderma, Corneal Involvement, Deafness term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ap1b1 adaptor related protein complex 1 subunit beta 1 JBrowse link 14 85,230,652 85,281,806 RGD:8554872
RGD:7240710
INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Scaper S-phase cyclin A-associated protein in the ER JBrowse link 8 60,127,039 60,593,568 RGD:8554872
RGD:7240710
isolated microphthalmia 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C1qtnf5 C1q and TNF related 5 JBrowse link 8 48,443,515 48,445,639 RGD:8554872
G Mfrp membrane frizzled-related protein JBrowse link 8 48,437,720 48,443,421 RGD:7240710
RGD:8554872
RGD:11553925
Jalili syndrome 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
RGD:8554872
Joubert syndrome 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arl13b ADP-ribosylation factor like GTPase 13B JBrowse link 7 1,122,567 1,188,209 RGD:7240710
RGD:8554872
RGD:11553937
G Nsun3 NOP2/Sun RNA methyltransferase 3 JBrowse link 11 38,535,971 38,590,274 RGD:8554872
G Pros1 protein S JBrowse link 7 1,206,648 1,288,140 RGD:8554872
G Stx19 syntaxin 19 JBrowse link 7 1,145,002 1,149,978 RGD:8554872
Kearns-Sayre syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Il1a interleukin 1 alpha JBrowse link 3 121,824,712 121,836,122 RGD:11554173
G Il1b interleukin 1 beta JBrowse link 3 121,876,256 121,882,637 RGD:11554173
G Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 JBrowse link MT 7,919 8,599 RGD:8554872
G Mt-atp8 mitochondrially encoded ATP synthase membrane subunit 8 JBrowse link MT 7,758 7,961 RGD:8554872
G Mt-co3 mitochondrially encoded cytochrome c oxidase III JBrowse link MT 8,599 9,382 RGD:8554872
G Mt-nd3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 JBrowse link MT 9,451 9,798 RGD:8554872
G Mt-nd4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 JBrowse link MT 10,160 11,537 RGD:8554872
G Mt-nd4l mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L JBrowse link MT 9,870 10,166 RGD:8554872
G Mt-nd5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 JBrowse link MT 11,736 13,565 RGD:8554872
G Ppargc1a PPARG coactivator 1 alpha JBrowse link 14 63,095,291 63,190,688 RGD:7241824
G Tfam transcription factor A, mitochondrial JBrowse link 20 18,594,057 18,606,106 RGD:13592920
lattice corneal dystrophy 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:13592920
Lattice Corneal Dystrophy 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
Lattice Corneal Dystrophy, Type IIIA 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
Leber congenital amaurosis 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 Adamts18 ADAM metallopeptidase with thrombospondin type 1 motif, 18 JBrowse link 19 46,005,055 46,167,912 RGD:8554872
G Ahi1 Abelson helper integration site 1 JBrowse link 1 16,478,127 16,601,769 RGD:8554872
G Aipl1 aryl hydrocarbon receptor-interacting protein-like 1 JBrowse link 10 58,599,690 58,631,194 RGD:70801
RGD:8554872
RGD:8696012
RGD:8696011
G Cdhr1 cadherin-related family member 1 JBrowse link 16 14,328,161 14,348,049 RGD:8554872
G Cep290 centrosomal protein 290 JBrowse link 7 40,217,269 40,306,327 RGD:8662304
RGD:8554872
G Cfap410 cilia and flagella associated protein 410 JBrowse link 20 11,417,428 11,424,301 RGD:8554872
G Cluap1 clusterin associated protein 1 JBrowse link 10 11,847,058 11,878,792 RGD:8554872
G Cngb3 cyclic nucleotide gated channel subunit beta 3 JBrowse link 5 33,097,353 33,507,467 RGD:8554872
G Crb1 crumbs cell polarity complex component 1 JBrowse link 13 56,270,519 56,462,893 RGD:8552697
RGD:8554872
RGD:11554173
RGD:8552785
RGD:8552784
G Crb2 crumbs cell polarity complex component 2 JBrowse link 3 22,037,812 22,061,247 RGD:8552784
G Crx cone-rod homeobox JBrowse link 1 77,744,593 77,758,913 RGD:8554872
RGD:11554173
G Fscn2 fascin actin-bundling protein 2, retinal JBrowse link 10 109,528,307 109,540,675 RGD:8554872
G Gigyf2 GRB10 interacting GYF protein 2 JBrowse link 9 94,425,191 94,550,431 RGD:8554872
G Grm6 glutamate metabotropic receptor 6 JBrowse link 10 36,345,503 36,363,416 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 Impdh1 inosine monophosphate dehydrogenase 1 JBrowse link 4 56,478,383 56,493,987 RGD:11554173
RGD:8554872
G Inpp5e inositol polyphosphate-5-phosphatase E JBrowse link 3 3,843,307 3,856,154 RGD:8554872
G Iqcb1 IQ motif containing B1 JBrowse link 11 66,824,059 66,878,585 RGD:11537384
RGD:8554872
RGD:11537385
G Kcnj13 potassium inwardly-rectifying channel, subfamily J, member 13 JBrowse link 9 94,486,719 94,495,333 RGD:8554872
G Lca5 lebercilin LCA5 JBrowse link 8 90,926,309 90,984,271 RGD:8554872
G Lrat lecithin retinol acyltransferase JBrowse link 2 181,896,304 181,905,366 RGD:11554173
RGD:8554872
G Lrp5 LDL receptor related protein 5 JBrowse link 1 218,816,833 218,920,147 RGD:8554872
G Mpp5 membrane palmitoylated protein 5 JBrowse link 6 101,923,675 102,029,705 RGD:13592920
G Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 JBrowse link MT 2,740 3,694 RGD:8554872
G Myo7a myosin VIIA JBrowse link 1 163,001,313 163,071,545 RGD:11537385
G Nmnat1 nicotinamide nucleotide adenylyltransferase 1 JBrowse link 5 166,409,460 166,430,291 RGD:11554173
RGD:8554872
G Nphp1 nephrocystin 1 JBrowse link 3 120,316,048 120,370,089 RGD:8554872
G Nphp3 nephrocystin 3 JBrowse link 8 112,526,553 112,575,745 RGD:8554872
G Nphp4 nephrocystin 4 JBrowse link 5 169,647,581 169,744,662 RGD:8554872
G Nr2e3 nuclear receptor subfamily 2, group E, member 3 JBrowse link 8 64,797,518 64,801,587 RGD:8554872
G Pank2 pantothenate kinase 2 JBrowse link 3 123,807,911 123,841,797 RGD:8554872
G Pde6a phosphodiesterase 6A JBrowse link 18 56,544,652 56,617,480 RGD:8554872
G Pex1 peroxisomal biogenesis factor 1 JBrowse link 4 27,659,376 27,698,037 RGD:8554872
G Prpf31 pre-mRNA processing factor 31 JBrowse link 1 64,150,786 64,162,461 RGD:8554872
G Prph2 peripherin 2 JBrowse link 9 16,085,933 16,386,176 RGD:8553209
G Rbp1 retinol binding protein 1 JBrowse link 8 106,449,321 106,470,842 RGD:8554872
G Rd3 retinal degeneration 3, GUCY2D regulator JBrowse link 13 110,739,645 110,749,167 RGD:11560485
RGD:8554872
G Rdh12 retinol dehydrogenase 12 JBrowse link 6 102,392,828 102,405,750 RGD:8554872
G RGD1307947 similar to RIKEN cDNA C430008C19 JBrowse link 7 40,304,964 40,315,408 RGD:8554872
G Rgs9 regulator of G-protein signaling 9 JBrowse link 10 97,509,971 97,582,188 RGD:8554872
G Rims1 regulating synaptic membrane exocytosis 1 JBrowse link 9 28,440,408 28,973,246 RGD:8554872
G Rp2 RP2 activator of ARL3 GTPase JBrowse link X 2,066,298 2,116,661 RGD:8554872
G Rpe65 retinoid isomerohydrolase RPE65 JBrowse link 2 266,141,581 266,169,197 RGD:11554173
RGD:8554872
G Rpgr retinitis pigmentosa GTPase regulator JBrowse link X 14,271,012 14,331,745 RGD:8553217
G Rpgrip1 RPGR interacting protein 1 JBrowse link 15 28,521,287 28,575,046 RGD:11554173
RGD:8554872
G Slc38a8 solute carrier family 38, member 8 JBrowse link 19 52,110,517 52,142,500 RGD:8554872
G Spata7 spermatogenesis associated 7 JBrowse link 6 122,603,248 122,648,718 RGD:11554173
RGD:8554872
G Tulp1 TUB like protein 1 JBrowse link 20 7,931,673 7,943,601 RGD:8554872
G Ush2a usherin JBrowse link 13 106,750,738 107,434,195 RGD:8554872
Leber congenital amaurosis 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aipl1 aryl hydrocarbon receptor-interacting protein-like 1 JBrowse link 10 58,599,690 58,631,194 RGD:8554872
G Crb1 crumbs cell polarity complex component 1 JBrowse link 13 56,270,519 56,462,893 RGD:8554872
G Crx cone-rod homeobox JBrowse link 1 77,744,593 77,758,913 RGD:8554872
G Gucy2d guanylate cyclase 2D, retinal JBrowse link 10 55,835,695 55,851,235 RGD:7240710
RGD:8554872
G Lca5 lebercilin LCA5 JBrowse link 8 90,926,309 90,984,271 RGD:8554872
G Lrat lecithin retinol acyltransferase JBrowse link 2 181,896,304 181,905,366 RGD:8554872
G Prom1 prominin 1 JBrowse link 14 71,532,321 71,637,400 RGD:8554872
G Rpgrip1 RPGR interacting protein 1 JBrowse link 15 28,521,287 28,575,046 RGD:8554872
G Tulp1 TUB like protein 1 JBrowse link 20 7,931,673 7,943,601 RGD:8554872
Leber congenital amaurosis 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cep290 centrosomal protein 290 JBrowse link 7 40,217,269 40,306,327 RGD:7240710
RGD:8554872
RGD:11537381
RGD:11537378
RGD:11064164
G RGD1307947 similar to RIKEN cDNA C430008C19 JBrowse link 7 40,304,964 40,315,408 RGD:8554872
Leber congenital amaurosis 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Impdh1 inosine monophosphate dehydrogenase 1 JBrowse link 4 56,478,383 56,493,987 RGD:7240710
RGD:8554872
Leber congenital amaurosis 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rd3 retinal degeneration 3, GUCY2D regulator JBrowse link 13 110,739,645 110,749,167 RGD:7240710
RGD:8554872
RGD:11560490
Leber congenital amaurosis 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rdh12 retinol dehydrogenase 12 JBrowse link 6 102,392,828 102,405,750 RGD:7240710
RGD:8554872
RGD:11554173
G Zfyve26 zinc finger FYVE-type containing 26 JBrowse link 6 102,409,235 102,472,962 RGD:8554872
Leber congenital amaurosis 14 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lrat lecithin retinol acyltransferase JBrowse link 2 181,896,304 181,905,366 RGD:7240710
RGD:8554872
Leber congenital amaurosis 15 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tulp1 TUB like protein 1 JBrowse link 20 7,931,673 7,943,601 RGD:7240710
RGD:8554872
Leber congenital amaurosis 16 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gigyf2 GRB10 interacting GYF protein 2 JBrowse link 9 94,425,191 94,550,431 RGD:8554872
G Kcnj13 potassium inwardly-rectifying channel, subfamily J, member 13 JBrowse link 9 94,486,719 94,495,333 RGD:7240710
RGD:8554872
Leber congenital amaurosis 17 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gdf6 growth differentiation factor 6 JBrowse link 5 23,056,345 23,072,666 RGD:7240710
RGD:8554872
Leber Congenital Amaurosis 19 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tstd3 thiosulfate sulfurtransferase like domain containing 3 JBrowse link 5 35,892,783 35,902,243 RGD:8554872
G Usp45 ubiquitin specific peptidase 45 JBrowse link 5 35,916,763 35,984,525 RGD:7240710
RGD:8554872
Leber congenital amaurosis 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Depdc1 DEP domain containing 1 JBrowse link 2 264,704,738 264,738,265 RGD:8554872
G Rpe65 retinoid isomerohydrolase RPE65 JBrowse link 2 266,141,581 266,169,197 RGD:737730
RGD:8554872
RGD:9495932
RGD:9495919
RGD:9495917
RGD:7240710
Leber congenital amaurosis 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Spata7 spermatogenesis associated 7 JBrowse link 6 122,603,248 122,648,718 RGD:7240710
RGD:8554872
Leber congenital amaurosis 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aipl1 aryl hydrocarbon receptor-interacting protein-like 1 JBrowse link 10 58,599,690 58,631,194 RGD:7240710
RGD:8554872
Leber congenital amaurosis 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lca5 lebercilin LCA5 JBrowse link 8 90,926,309 90,984,271 RGD:7240710
RGD:8554872
Leber congenital amaurosis 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mks1 MKS transition zone complex subunit 1 JBrowse link 10 75,149,814 75,160,481 RGD:8554872
G Rpgrip1 RPGR interacting protein 1 JBrowse link 15 28,521,287 28,575,046 RGD:7240710
RGD:8554872
Leber congenital amaurosis 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Crx cone-rod homeobox JBrowse link 1 77,744,593 77,758,913 RGD:734827
RGD:8554872
RGD:7240710
G Sult2a1 sulfotransferase family 2A member 1 JBrowse link 1 76,558,721 76,614,315 RGD:8554872
Leber congenital amaurosis 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Crb1 crumbs cell polarity complex component 1 JBrowse link 13 56,270,519 56,462,893 RGD:7240710
RGD:8554872
Leber congenital amaurosis 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
LEBER CONGENITAL AMAUROSIS WITH EARLY-ONSET DEAFNESS term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tubb4b tubulin, beta 4B class IVb JBrowse link 3 2,441,585 2,444,369 RGD:8554872
RGD:7240710
Leber hereditary optic neuropathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Apoa4 apolipoprotein A4 JBrowse link 8 50,536,983 50,539,371 RGD:5685659
G Ephx1 epoxide hydrolase 1 JBrowse link 13 99,271,390 99,300,580 RGD:5688732
G Il1a interleukin 1 alpha JBrowse link 3 121,824,712 121,836,122 RGD:11554173
G Il1b interleukin 1 beta JBrowse link 3 121,876,256 121,882,637 RGD:11554173
G Lrat lecithin retinol acyltransferase JBrowse link 2 181,896,304 181,905,366 RGD:11554173
G Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 JBrowse link MT 7,919 8,599 RGD:5490293
RGD:8554872
RGD:11554173
RGD:5508187
G Mt-co1 mitochondrially encoded cytochrome c oxidase I JBrowse link MT 5,323 6,867 RGD:8554872
G Mt-co3 mitochondrially encoded cytochrome c oxidase III JBrowse link MT 8,599 9,382 RGD:11554173
RGD:8554872
G Mt-cyb mitochondrially encoded cytochrome b JBrowse link MT 14,136 15,278 RGD:8554872
RGD:11554173
G Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 JBrowse link MT 2,740 3,694 RGD:5508685
RGD:8554872
RGD:11554173
RGD:8657118
RGD:8657116
RGD:5508712
RGD:5508689
RGD:5508187
G Mt-nd2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 JBrowse link MT 3,904 4,942 RGD:5508187
RGD:11554173
RGD:8554872
G Mt-nd3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 JBrowse link MT 9,451 9,798 RGD:5508703
RGD:8554872
G Mt-nd4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 JBrowse link MT 10,160 11,537 RGD:1581057
RGD:8554872
RGD:11554173
RGD:5508187
RGD:5507829
RGD:5491183
RGD:1581059
RGD:1581058
G Mt-nd4l mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L JBrowse link MT 9,870 10,166 RGD:5686339
RGD:8554872
RGD:11554173
RGD:5686341
G Mt-nd5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 JBrowse link MT 11,736 13,565 RGD:1581060
RGD:8554872
RGD:11554173
RGD:5507826
RGD:5491202
RGD:5491183
RGD:5491172
G Mt-nd6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 JBrowse link MT 13,543 14,061 RGD:8657119
RGD:8554872
RGD:11554173
RGD:8657127
RGD:8657125
RGD:8657123
G Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 JBrowse link 13 89,606,848 89,623,506 RGD:8554872
G Parl presenilin associated, rhomboid-like JBrowse link 11 84,517,368 84,544,463 RGD:12902617
RGD:12902618
G Rdh12 retinol dehydrogenase 12 JBrowse link 6 102,392,828 102,405,750 RGD:1599415
G Rpe65 retinoid isomerohydrolase RPE65 JBrowse link 2 266,141,581 266,169,197 RGD:11554173
G Rpgrip1 RPGR interacting protein 1 JBrowse link 15 28,521,287 28,575,046 RGD:1599580
G Sod2 superoxide dismutase 2 JBrowse link 1 47,914,757 47,921,587 RGD:8158101
RGD:8158104
G Tp53 tumor protein p53 JBrowse link 10 56,186,299 56,198,449 RGD:5688732
Leber hereditary optic neuropathy and dystonia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mt-nd3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 JBrowse link MT 9,451 9,798 RGD:8554872
Leber plus disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ndufaf5 NADH:ubiquinone oxidoreductase complex assembly factor 5 JBrowse link 3 133,232,412 133,261,932 RGD:8554872
macular corneal dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chst5 carbohydrate sulfotransferase 5 JBrowse link 19 44,115,065 44,136,092 RGD:7240710
RGD:8554872
Macular Degeneration, X-Linked Atrophic 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:7240710
RGD:8554872
Macular Dystrophy with Central Cone Involvement term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mfsd8 major facilitator superfamily domain containing 8 JBrowse link 2 127,706,618 127,784,129 RGD:7240710
RGD:8554872
Macular Dystrophy, Retinal, 2 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
Meesmann corneal dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krt12 keratin 12 JBrowse link 10 87,328,547 87,336,710 RGD:11554173
Meesmann corneal dystrophy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krt12 keratin 12 JBrowse link 10 87,328,547 87,336,710 RGD:8554872
RGD:7240710
megalocornea term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chrdl1 chordin-like 1 JBrowse link X 114,554,359 114,658,975 RGD:8554872
RGD:7240710
Metaphyseal Chondrodysplasia with Retinitis Pigmentosa term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cwc27 CWC27 spliceosome associated cyclophilin JBrowse link 2 34,716,420 34,923,060 RGD:8554872
RGD:7240710
microcephaly and chorioretinopathy 1 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:11554173
G Tubgcp4 tubulin, gamma complex associated protein 4 JBrowse link 3 113,131,292 113,160,750 RGD:11554173
G Tubgcp6 tubulin, gamma complex associated protein 6 JBrowse link 7 130,080,895 130,102,247 RGD:8554872
RGD:7240710
microcephaly and chorioretinopathy 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:7240710
RGD:8554872
microcephaly and chorioretinopathy 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tp53bp1 tumor protein p53 binding protein 1 JBrowse link 3 113,160,030 113,259,701 RGD:8554872
G Tubgcp4 tubulin, gamma complex associated protein 4 JBrowse link 3 113,131,292 113,160,750 RGD:8554872
RGD:7240710
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kif11 kinesin family member 11 JBrowse link 1 256,035,866 256,088,299 RGD:7240710
RGD:8554872
Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adamts18 ADAM metallopeptidase with thrombospondin type 1 motif, 18 JBrowse link 19 46,005,055 46,167,912 RGD:7240710
RGD:8554872
Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or without Secondary Glaucoma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ltbp2 latent transforming growth factor beta binding protein 2 JBrowse link 6 108,500,114 108,596,653 RGD:7240710
Multisystemic Smooth Muscle Dysfunction Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acta2 actin alpha 2, smooth muscle JBrowse link 1 252,537,614 252,550,394 RGD:7240710
RGD:8554872
G Fas Fas cell surface death receptor JBrowse link 1 252,589,785 252,624,790 RGD:8554872
NARP syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 JBrowse link MT 7,919 8,599 RGD:13825442
RGD:8554872
RGD:11554173
Newfoundland cone-rod 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
Nonsyndromic 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: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:8554872
G Tyrp1 tyrosinase-related protein 1 JBrowse link 5 98,387,291 98,406,083 RGD:8554872
O'Donnell Pappas Syndrome 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:8554872
G Pax6 paired box 6 JBrowse link 3 95,700,241 95,728,682 RGD:7240710
RGD:8554872
ocular 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:13592920
G Slc24a5 solute carrier family 24 member 5 JBrowse link 3 117,335,212 117,354,480 RGD:13592920
G Tyr tyrosinase JBrowse link 1 151,012,598 151,106,802 RGD:8694339
RGD:7240710
RGD:8554872
G Tyrp1 tyrosinase-related protein 1 JBrowse link 5 98,387,291 98,406,083 RGD:8554872
Ocular Albinism Type 1 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:7240710
RGD:8554872
ocular albinism with sensorineural deafness term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mitf melanocyte inducing transcription factor JBrowse link 4 130,172,484 130,425,496 RGD:13592920
G Pax3 paired box 3 JBrowse link 9 84,004,004 84,101,226 RGD:8554872
oculocutaneous albinism 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 Hps4 HPS4, biogenesis of lysosomal organelles complex 3 subunit 2 JBrowse link 12 50,285,239 50,315,893 RGD:8554872
G Mitf melanocyte inducing transcription factor JBrowse link 4 130,172,484 130,425,496 RGD:11554173
G Myef2 myelin expression factor 2 JBrowse link 3 117,353,490 117,389,582 RGD:8554872
G Oca2 OCA2 melanosomal transmembrane protein JBrowse link 1 114,661,970 114,987,433 RGD:8554872
RGD:13592920
G Slc24a5 solute carrier family 24 member 5 JBrowse link 3 117,335,212 117,354,480 RGD:8554872
G Slc45a2 solute carrier family 45, member 2 JBrowse link 2 60,966,671 60,999,398 RGD:8554872
RGD:13592920
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
Oculocutaneous Albinism 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
oculocutaneous albinism type IA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tyr tyrosinase JBrowse link 1 151,012,598 151,106,802 RGD:7240710
RGD:8554872
RGD:11554173
RGD:8694340
RGD:8694337
RGD:8694335
RGD:8694334
oculocutaneous albinism type IB term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tyr tyrosinase JBrowse link 1 151,012,598 151,106,802 RGD:7240710
RGD:8554872
oculocutaneous albinism type II term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mc1r melanocortin 1 receptor JBrowse link 19 56,215,420 56,219,987 RGD:7240710
RGD:8554872
G Oca2 OCA2 melanosomal transmembrane protein JBrowse link 1 114,661,970 114,987,433 RGD:7240710
RGD:8554872
RGD:9491836
RGD:9491830
RGD:9491821
RGD:9491820
G Tyrp1 tyrosinase-related protein 1 JBrowse link 5 98,387,291 98,406,083 RGD:8554872
oculocutaneous albinism type III term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tyrp1 tyrosinase-related protein 1 JBrowse link 5 98,387,291 98,406,083 RGD:7240710
RGD:8554872
oculocutaneous albinism type IV term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc45a2 solute carrier family 45, member 2 JBrowse link 2 60,966,671 60,999,398 RGD:1599921
RGD:8554872
RGD:7240710
oculocutaneous albinism 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
oculocutaneous albinism 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
Oguchi disease-1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sag S-antigen visual arrestin JBrowse link 9 94,926,901 94,972,162 RGD:7240710
RGD:8554872
Oguchi disease-2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Grk1 G protein-coupled receptor kinase 1 JBrowse link 16 81,153,489 81,165,442 RGD:8554872
RGD:7240710
Oliver-McFarlane syndrome 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:8554872
RGD:7240710
optic atrophy 1 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:7240710
RGD:8554872
RGD:11554173
RGD:7800716
RGD:7800715
RGD:7800709
RGD:7800708
RGD:7800706
RGD:7800704
RGD:7800699
RGD:7800686
G Opa3 OPA3, outer mitochondrial membrane lipid metabolism regulator JBrowse link 1 80,141,630 80,160,145 RGD:8554872
G Wfs1 wolframin ER transmembrane glycoprotein JBrowse link 14 78,640,707 78,665,224 RGD:7800683
optic atrophy 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rtn4ip1 reticulon 4 interacting protein 1 JBrowse link 20 48,881,124 48,924,921 RGD:8554872
RGD:7240710
optic atrophy 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Yme1l1 YME1-like 1 ATPase JBrowse link 17 89,701,899 89,741,919 RGD:8554872
RGD:7240710
optic atrophy 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Opa3 OPA3, outer mitochondrial membrane lipid metabolism regulator JBrowse link 1 80,141,630 80,160,145 RGD:7240710
RGD:8554872
optic atrophy 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnm1l dynamin 1-like JBrowse link 11 88,830,968 88,882,271 RGD:8554872
RGD:7240710
G Yars2 tyrosyl-tRNA synthetase 2 JBrowse link 11 88,882,615 88,888,377 RGD:8554872
optic atrophy 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tmem126a transmembrane protein 126A JBrowse link 1 156,283,105 156,291,057 RGD:7240710
RGD:8554872
optic atrophy 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aco2 aconitase 2 JBrowse link 7 123,102,493 123,145,608 RGD:7240710
RGD:8554872
G Greb1l GREB1 like retinoic acid receptor coactivator JBrowse link 18 1,537,315 1,784,260 RGD:8554872
G Polr3h RNA polymerase III subunit H JBrowse link 7 123,146,248 123,156,558 RGD:8554872
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atoh7 atonal bHLH transcription factor 7 JBrowse link 20 27,082,961 27,083,410 RGD:7240710
RGD:8554872
G Tspan12 tetraspanin 12 JBrowse link 4 48,852,823 48,953,240 RGD:8554872
PHARC syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abhd12 abhydrolase domain containing 12, lysophospholipase JBrowse link 3 146,630,298 146,690,375 RGD:7240710
RGD:8554872
piebaldism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gli3 GLI family zinc finger 3 JBrowse link 17 52,294,942 52,569,036 RGD:12738207
G Kit KIT proto-oncogene receptor tyrosine kinase JBrowse link 14 35,072,131 35,149,638 RGD:1600045
RGD:8554872
RGD:12910729
RGD:7240710
G Snai2 snail family transcriptional repressor 2 JBrowse link 11 90,404,421 90,406,730 RGD:1600041
RGD:8554872
RGD:7240710
pigmented paravenous chorioretinal atrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Crb1 crumbs cell polarity complex component 1 JBrowse link 13 56,270,519 56,462,893 RGD:7240710
RGD:8554872
RGD:8552694
PORETTI-BOLTSHAUSER SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lama1 laminin subunit alpha 1 JBrowse link 9 115,916,907 116,042,123 RGD:8554872
RGD:7240710
Posterior Column Ataxia with Retinitis Pigmentosa term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Flvcr1 FLVCR heme transporter 1 JBrowse link 13 109,624,167 109,629,609 RGD:7240710
RGD:8554872
G Flvcr2 FLVCR heme transporter 2 JBrowse link 6 109,617,348 109,681,495 RGD:8554872
posterior polymorphous corneal dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Vsx1 visual system homeobox 1 JBrowse link 3 146,484,235 146,494,757 RGD:8554872
posterior polymorphous corneal dystrophy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ovol2 ovo-like zinc finger 2 JBrowse link 3 138,433,990 138,464,511 RGD:8554872
RGD:7240710
RGD:11554173
G Slc4a11 solute carrier family 4 member 11 JBrowse link 3 123,224,242 123,236,535 RGD:8554872
G Vsx1 visual system homeobox 1 JBrowse link 3 146,484,235 146,494,757 RGD:8657036
RGD:8554872
posterior polymorphous corneal dystrophy 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col8a2 collagen type VIII alpha 2 chain JBrowse link 5 144,308,527 144,335,142 RGD:7240710
RGD:8554872
posterior polymorphous corneal dystrophy 3 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
posterior polymorphous corneal dystrophy 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Grhl2 grainyhead-like transcription factor 2 JBrowse link 7 76,058,623 76,197,360 RGD:8554872
RGD:7240710
primary congenital glaucoma 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
G Ltbp2 latent transforming growth factor beta binding protein 2 JBrowse link 6 108,500,114 108,596,653 RGD:8554872
RGD:13592920
G Rmdn2 regulator of microtubule dynamics 2 JBrowse link 6 2,215,062 2,292,288 RGD:8554872
Primary Congenital Glaucoma 3, D term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ltbp2 latent transforming growth factor beta binding protein 2 JBrowse link 6 108,500,114 108,596,653 RGD:7240710
RGD:8554872
Primary Congenital Glaucoma 3, E term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tek TEK receptor tyrosine kinase JBrowse link 5 113,725,717 113,852,799 RGD:8554872
RGD:7240710
Progressive Encephalopathy with Amyotrophy and Optic Atrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tbce tubulin folding cofactor E JBrowse link 17 53,983,126 54,029,028 RGD:8554872
RGD:7240710
Pseudoinflammatory Fundus Dystrophy, Finnish Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Syn3 synapsin III JBrowse link 7 23,403,896 23,808,602 RGD:8554872
G Timp3 TIMP metallopeptidase inhibitor 3 JBrowse link 7 23,543,125 23,594,170 RGD:8554872
Reis-Bucklers corneal dystrophy 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
renal hypomagnesemia 5 with ocular involvement term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cldn19 claudin 19 JBrowse link 5 138,300,692 138,307,982 RGD:7240710
RGD:8554872
G Egf epidermal growth factor JBrowse link 2 68,820,616 68,895,537 RGD:8554872
Retinal Cone Dystrophy 3A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pde6h phosphodiesterase 6H JBrowse link 4 170,947,723 170,963,046 RGD:7240710
RGD:8554872
Retinal Cone Dystrophy 3B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kcnv2 potassium voltage-gated channel modifier subfamily V member 2 JBrowse link 1 245,396,880 245,475,011 RGD:7240710
RGD:8554872
Retinal Cone Dystrophy 4 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:7240710
RGD:8554872
Retinal Dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Crb1 crumbs cell polarity complex component 1 JBrowse link 13 56,270,519 56,462,893 RGD:8552698
G Slbp stem-loop binding protein JBrowse link 14 82,356,916 82,366,368 RGD:11554173
Retinal Dystrophy, Early Onset Severe 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
retinitis pigmentosa 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:1598552
RGD:8554872
RGD:11554173
RGD:8547535
G Acan aggrecan JBrowse link 1 140,762,758 140,824,441 RGD:11570529
G Adam9 ADAM metallopeptidase domain 9 JBrowse link 16 71,810,377 71,887,926 RGD:8554872
G Adgra3 adhesion G protein-coupled receptor A3 JBrowse link 14 64,686,677 64,786,813 RGD:8554872
G Adgrv1 adhesion G protein-coupled receptor V1 JBrowse link 2 8,926,843 9,504,455 RGD:8554872
G Agbl5 ATP/GTP binding protein-like 5 JBrowse link 6 26,837,299 26,857,234 RGD:8554872
G Ahi1 Abelson helper integration site 1 JBrowse link 1 16,478,127 16,601,769 RGD:8554872
G Aifm1 apoptosis inducing factor, mitochondria associated 1 JBrowse link X 135,304,063 135,343,062 RGD:10053563
G Aipl1 aryl hydrocarbon receptor-interacting protein-like 1 JBrowse link 10 58,599,690 58,631,194 RGD:8696011
RGD:8554872
RGD:11554173
G Alms1 ALMS1, centrosome and basal body associated protein JBrowse link 4 117,371,544 117,472,310 RGD:8554872
G Arl2bp ADP-ribosylation factor like GTPase 2 binding protein JBrowse link 19 10,753,670 10,763,247 RGD:8554872
G Arl6 ADP-ribosylation factor like GTPase 6 JBrowse link 11 42,858,476 42,884,324 RGD:8554872
RGD:11554173
G Atf6 activating transcription factor 6 JBrowse link 13 89,053,457 89,242,531 RGD:11554173
G Bbs1 Bardet-Biedl syndrome 1 JBrowse link 1 220,146,084 220,165,545 RGD:8554872
G Bbs10 Bardet-Biedl syndrome 10 JBrowse link 7 54,030,229 54,034,354 RGD:8554872
G Bbs12 Bardet-Biedl syndrome 12 JBrowse link 2 124,048,513 124,057,026 RGD:8554872
G Bbs2 Bardet-Biedl syndrome 2 JBrowse link 19 11,385,921 11,421,523 RGD:8554872
G Bbs7 Bardet-Biedl syndrome 7 JBrowse link 2 123,283,402 123,322,991 RGD:8554872
G Bbs9 Bardet-Biedl syndrome 9 JBrowse link 8 23,491,929 24,074,524 RGD:8554872
G Bcan brevican JBrowse link 2 187,359,674 187,373,133 RGD:14392802
G Best1 bestrophin 1 JBrowse link 1 226,033,146 226,049,893 RGD:8547535
RGD:8554872
G Ca4 carbonic anhydrase 4 JBrowse link 10 72,272,286 72,281,069 RGD:1600730
RGD:8554872
G Cacna1f calcium voltage-gated channel subunit alpha1 F JBrowse link X 15,712,709 15,741,135 RGD:8554872
G Casp7 caspase 7 JBrowse link 1 277,190,557 277,242,779 RGD:8548491
G Cat catalase JBrowse link 3 93,379,872 93,412,058 RGD:8158049
G Ccdc66 coiled-coil domain containing 66 JBrowse link 16 3,107,119 3,139,188 RGD:13592920
G Cdh23 cadherin-related 23 JBrowse link 20 29,857,018 30,263,758 RGD:8547536
RGD:8554872
G Cdh3 cadherin 3 JBrowse link 19 38,668,957 38,719,801 RGD:8554872
G Cdhr1 cadherin-related family member 1 JBrowse link 16 14,328,161 14,348,049 RGD:8554872
G Cep250