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ONTOLOGY REPORT - ANNOTATIONS


Term:Eye Abnormalities
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Accession:DOID:9008296 term browser browse the term
Definition:Congenital absence of or defects in structures of the eye; may also be hereditary.
Synonyms:exact_synonym: Eye Abnormality
 primary_id: MESH:D005124;   RDO:0000705
For additional species annotation, visit the Alliance of Genome Resources.


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Eye Abnormalities term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Apaf1 apoptotic peptidase activating factor 1 JBrowse link 7 31,699,309 31,784,192 RGD:11554173
G Apc APC regulator of WNT signaling pathway JBrowse link 18 27,011,710 27,106,323 RGD:11554173
G Bmpr1a bone morphogenetic protein receptor type 1A JBrowse link 16 10,758,278 10,852,170 RGD:11554173
G Bmpr1b bone morphogenetic protein receptor type 1B JBrowse link 2 247,392,195 247,662,026 RGD:11554173
G Col4a1 collagen type IV alpha 1 chain JBrowse link 16 83,522,162 83,632,153 RGD:11554173
G Col5a2 collagen type V alpha 2 chain JBrowse link 9 52,091,088 52,238,735 RGD:1600694
G Crppa CDP-L-ribitol pyrophosphorylase A JBrowse link 6 55,880,136 56,159,466 RGD:11554173
G Frem1 Fras1 related extracellular matrix 1 JBrowse link 5 101,018,009 101,166,794 RGD:11554173
G Ift122 intraflagellar transport 122 JBrowse link 4 147,756,574 147,826,983 RGD:11554173
G Jag1 jagged canonical Notch ligand 1 JBrowse link 3 130,079,361 130,114,781 RGD:11554173
G Ndst1 N-deacetylase and N-sulfotransferase 1 JBrowse link 18 55,951,497 56,014,107 RGD:11554173
G Pax6 paired box 6 JBrowse link 3 95,700,241 95,728,682 RGD:1601211
RGD:731242
RGD:1601210
G Sh3pxd2b SH3 and PX domains 2B JBrowse link 10 17,209,152 17,296,449 RGD:11554173
G Shh sonic hedgehog signaling molecule JBrowse link 4 718,538 727,691 RGD:11554173
G Sox2 SRY-box transcription factor 2 JBrowse link 2 121,165,137 121,167,545 RGD:8661660
RGD:8661661
G Tfap2a transcription factor AP-2 alpha JBrowse link 17 24,653,342 24,670,457 RGD:11554173
G Tgfb2 transforming growth factor, beta 2 JBrowse link 13 105,039,639 105,142,010 RGD:11554173
G Tgfbr2 transforming growth factor, beta receptor 2 JBrowse link 8 124,310,288 124,399,345 RGD:11554173
G Vsx1 visual system homeobox 1 JBrowse link 3 146,484,235 146,494,757 RGD:11554173
3MC syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adipoq adiponectin, C1Q and collagen domain containing JBrowse link 11 81,330,845 81,344,488 RGD:8554872
G Ahsg alpha-2-HS-glycoprotein JBrowse link 11 81,711,269 81,717,594 RGD:8554872
G Colec11 collectin sub-family member 11 JBrowse link 6 47,857,767 47,889,961 RGD:11554173
G Crygs crystallin, gamma S JBrowse link 11 81,796,891 81,802,172 RGD:8554872
G Dnajb11 DnaJ heat shock protein family (Hsp40) member B11 JBrowse link 11 81,741,342 81,757,806 RGD:8554872
G Eif4a2 eukaryotic translation initiation factor 4A2 JBrowse link 11 81,373,047 81,379,680 RGD:8554872
G Fetub fetuin B JBrowse link 11 81,648,890 81,660,472 RGD:8554872
G Hrg histidine-rich glycoprotein JBrowse link 11 81,621,274 81,639,938 RGD:8554872
G Kng2 kininogen 2 JBrowse link 11 81,509,185 81,516,759 RGD:8554872
G Masp1 mannan-binding lectin serine peptidase 1 JBrowse link 11 80,736,424 80,806,278 RGD:7240710
RGD:8554872
RGD:11554173
G Rfc4 replication factor C subunit 4 JBrowse link 11 81,358,592 81,373,044 RGD:8554872
G Rpl39l ribosomal protein L39-like JBrowse link 10 5,529,580 5,533,695 RGD:8554872
G Rtp1 receptor (chemosensory) transporter protein 1 JBrowse link 11 80,823,989 80,826,505 RGD:8554872
G St6gal1 ST6 beta-galactoside alpha-2,6-sialyltransferase 1 JBrowse link 11 80,927,601 80,981,424 RGD:8554872
G Tbccd1 TBCC domain containing 1 JBrowse link 11 81,757,963 81,794,367 RGD:8554872
ablepharon macrostomia syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Twist2 twist family bHLH transcription factor 2 JBrowse link 9 98,924,134 98,968,510 RGD:7240710
RGD:8554872
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
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tp63 tumor protein p63 JBrowse link 11 78,234,853 78,456,559 RGD:7240710
RGD:8554872
RGD:11568643
RGD:11554173
Anophthalmia 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 Otx2 orthodenticle homeobox 2 JBrowse link 15 25,500,037 25,511,619 RGD:8554872
G Pax6 paired box 6 JBrowse link 3 95,700,241 95,728,682 RGD:8554872
G Rax retina and anterior neural fold homeobox JBrowse link 18 61,638,352 61,642,056 RGD:11554173
G Sox2 SRY-box transcription factor 2 JBrowse link 2 121,165,137 121,167,545 RGD:1599088
RGD:11554173
G Stra6 signaling receptor and transporter of retinol STRA6 JBrowse link 8 62,925,364 62,944,438 RGD:11554173
anterior segment dysgenesis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 JBrowse link 6 2,308,179 2,316,739 RGD:11554173
G Eya1 EYA transcriptional coactivator and phosphatase 1 JBrowse link 5 4,275,728 4,495,525 RGD:8554872
G Foxc1 forkhead box C1 JBrowse link 17 33,947,501 33,951,484 RGD:8662365
G Foxe3 forkhead box E3 JBrowse link 5 133,724,796 133,725,656 RGD:1598957
RGD:8554872
G Mug2 murinoglobulin 2 JBrowse link 4 154,215,262 154,282,608 RGD:11554173
G Pitx2 paired-like homeodomain 2 JBrowse link 2 233,602,732 233,621,059 RGD:8554872
G Pitx3 paired-like homeodomain 3 JBrowse link 1 265,886,766 265,899,947 RGD:11535067
RGD:8554872
RGD:11554173
G Pxdn peroxidasin JBrowse link 6 48,866,496 48,982,368 RGD:11554173
RGD:8554872
G Tsc1 TSC complex subunit 1 JBrowse link 3 7,219,955 7,269,063 RGD:13592920
anterior segment dysgenesis 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pitx2 paired-like homeodomain 2 JBrowse link 2 233,602,732 233,621,059 RGD:8554872
G Pitx3 paired-like homeodomain 3 JBrowse link 1 265,886,766 265,899,947 RGD:8554872
RGD:7240710
anterior segment dysgenesis 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Foxe3 forkhead box E3 JBrowse link 5 133,724,796 133,725,656 RGD:7240710
anterior segment dysgenesis 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Foxc1 forkhead box C1 JBrowse link 17 33,947,501 33,951,484 RGD:7240710
RGD:8554872
anterior segment dysgenesis 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pitx2 paired-like homeodomain 2 JBrowse link 2 233,602,732 233,621,059 RGD:7240710
RGD:11554173
RGD:8554872
anterior segment dysgenesis 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 JBrowse link 6 2,308,179 2,316,739 RGD:8554872
G Elp4 elongator acetyltransferase complex subunit 4 JBrowse link 3 95,733,810 95,954,987 RGD:8554872
G Frem1 Fras1 related extracellular matrix 1 JBrowse link 5 101,018,009 101,166,794 RGD:8554872
G Pax6 paired box 6 JBrowse link 3 95,700,241 95,728,682 RGD:7240710
RGD:8554872
G Pitx2 paired-like homeodomain 2 JBrowse link 2 233,602,732 233,621,059 RGD:8554872
anterior segment dysgenesis 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 JBrowse link 6 2,308,179 2,316,739 RGD:8554872
RGD:7240710
anterior segment dysgenesis 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pxdn peroxidasin JBrowse link 6 48,866,496 48,982,368 RGD:7240710
RGD:8554872
anterior segment dysgenesis 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mug2 murinoglobulin 2 JBrowse link 4 154,215,262 154,282,608 RGD:8554872
RGD:7240710
Arhinia, Choanal Atresia, and Microphthalmia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Smchd1 structural maintenance of chromosomes flexible hinge domain containing 1 JBrowse link 9 119,675,750 119,818,620 RGD:11554173
RGD:7240710
RGD:8554872
autosomal dominant isolated ectopia lentis 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fbn1 fibrillin 1 JBrowse link 3 117,569,708 117,766,160 RGD:7240710
RGD:8554872
G Ltbp2 latent transforming growth factor beta binding protein 2 JBrowse link 6 108,500,114 108,596,653 RGD:8554872
autosomal recessive isolated ectopia lentis 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adamtsl4 ADAMTS-like 4 JBrowse link 2 197,803,572 197,815,058 RGD:7240710
RGD:8554872
Axenfeld-Rieger syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col4a1 collagen type IV alpha 1 chain JBrowse link 16 83,522,162 83,632,153 RGD:11554173
G Dact1 dishevelled-binding antagonist of beta-catenin 1 JBrowse link 6 93,740,440 93,751,003 RGD:8554872
G Foxc1 forkhead box C1 JBrowse link 17 33,947,501 33,951,484 RGD:12904042
RGD:12904045
RGD:12904044
G Fras1 Fraser extracellular matrix complex subunit 1 JBrowse link 14 14,438,392 14,853,016 RGD:8554872
G Frem1 Fras1 related extracellular matrix 1 JBrowse link 5 101,018,009 101,166,794 RGD:8554872
G Pitx2 paired-like homeodomain 2 JBrowse link 2 233,602,732 233,621,059 RGD:8554872
RGD:12910560
RGD:12910558
G Ptch1 patched 1 JBrowse link 17 1,032,242 1,085,885 RGD:8554872
Axenfeld-Rieger syndrome type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Foxc1 forkhead box C1 JBrowse link 17 33,947,501 33,951,484 RGD:11554173
G Hmgn2 high mobility group nucleosomal binding domain 2 JBrowse link 5 152,195,359 152,198,813 RGD:13592920
G Pax6 paired box 6 JBrowse link 3 95,700,241 95,728,682 RGD:11554173
G Pitx2 paired-like homeodomain 2 JBrowse link 2 233,602,732 233,621,059 RGD:7240710
RGD:8554872
RGD:11554173
G Prdm5 PR/SET domain 5 JBrowse link 4 96,659,062 96,810,816 RGD:8554872
Axenfeld-Rieger syndrome type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adarb1 adenosine deaminase, RNA-specific, B1 JBrowse link 20 11,972,352 12,101,022 RGD:8554872
G Bmp4 bone morphogenetic protein 4 JBrowse link 15 20,776,060 20,791,013 RGD:13592920
G Col18a1 collagen type XVIII alpha 1 chain JBrowse link 20 12,225,202 12,332,858 RGD:8554872
G Col6a1 collagen type VI alpha 1 chain JBrowse link 20 12,657,913 12,676,370 RGD:8554872
G Col6a2 collagen type VI alpha 2 chain JBrowse link 20 12,773,472 12,801,179 RGD:8554872
G Dip2a disco-interacting protein 2 homolog A JBrowse link 20 13,044,056 13,127,971 RGD:8554872
G Fam207a family with sequence similarity 207, member A JBrowse link 20 11,863,145 11,896,833 RGD:8554872
G Foxc1 forkhead box C1 JBrowse link 17 33,947,501 33,951,484 RGD:7240710
RGD:8554872
G Foxe3 forkhead box E3 JBrowse link 5 133,724,796 133,725,656 RGD:8554872
G Ftcd formimidoyltransferase cyclodeaminase JBrowse link 20 12,806,957 12,820,466 RGD:8554872
G LOC108348157 speriolin-like protein JBrowse link 20 13,164,610 13,173,791 RGD:8554872
G Lss lanosterol synthase JBrowse link 20 12,844,522 12,870,474 RGD:8554872
G Mcm3ap minichromosome maintenance complex component 3 associated protein JBrowse link 20 12,879,304 12,917,069 RGD:8554872
G Pcbp3 poly(rC) binding protein 3 JBrowse link 20 12,429,255 12,629,985 RGD:8554872
G Pcnt pericentrin JBrowse link 20 12,943,523 13,038,615 RGD:8554872
G Pitx2 paired-like homeodomain 2 JBrowse link 2 233,602,732 233,621,059 RGD:8554872
G Pitx3 paired-like homeodomain 3 JBrowse link 1 265,886,766 265,899,947 RGD:8554872
G Pofut2 protein O-fucosyltransferase 2 JBrowse link 20 12,117,811 12,128,747 RGD:8554872
G Prmt2 protein arginine methyltransferase 2 JBrowse link 20 13,154,513 13,212,613 RGD:8554872
G RGD1564149 similar to Protein C21orf58 JBrowse link 20 12,927,310 12,938,891 RGD:8554872
G S100b S100 calcium binding protein B JBrowse link 20 13,130,633 13,142,856 RGD:8554872
G Slc19a1 solute carrier family 19 member 1 JBrowse link 20 12,334,675 12,354,517 RGD:8554872
G Ybey ybeY metalloendoribonuclease JBrowse link 20 12,917,111 12,926,587 RGD:8554872
Baraitser-Winter syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Actb actin, beta JBrowse link 12 13,715,843 13,718,813 RGD:13592920
RGD:8554872
G Actg1 actin, gamma 1 JBrowse link 10 109,518,429 109,521,288 RGD:13592920
Baraitser-Winter Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Actb actin, beta JBrowse link 12 13,715,843 13,718,813 RGD:7240710
RGD:8554872
Baraitser-Winter Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Actg1 actin, gamma 1 JBrowse link 10 109,518,429 109,521,288 RGD:7240710
RGD:8554872
Basel-Vanagaite-Smirin-Yosef syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Med25 mediator complex subunit 25 JBrowse link 1 100,872,240 100,887,864 RGD:8554872
RGD:7240710
blepharophimosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arid1b AT-rich interaction domain 1B JBrowse link 1 45,923,119 46,232,301 RGD:8554872
G Huwe1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 JBrowse link X 21,474,627 21,603,348 RGD:8554872
G Kat6b lysine acetyltransferase 6B JBrowse link 15 2,811,933 2,966,833 RGD:8554872
G Snx9 sorting nexin 9 JBrowse link 1 46,780,142 46,826,250 RGD:8554872
G Tmem242 transmembrane protein 242 JBrowse link 1 46,302,546 46,329,885 RGD:8554872
G Zdhhc14 zinc finger DHHC-type palmitoyltransferase 14 JBrowse link 1 46,378,807 46,658,527 RGD:8554872
Blepharophimosis Syndrome Type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Foxl2 forkhead box L2 JBrowse link 8 107,194,492 107,197,644 RGD:8554872
RGD:11554173
Blepharophimosis Syndrome Type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Foxl2 forkhead box L2 JBrowse link 8 107,194,492 107,197,644 RGD:8554872
blepharophimosis, ptosis, and epicanthus inversus 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
blepharophimosis-intellectual disability syndrome, SBBYS type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dusp29 dual specificity phosphatase 29 JBrowse link 15 2,766,929 2,806,573 RGD:8554872
G Kat6b lysine acetyltransferase 6B JBrowse link 15 2,811,933 2,966,833 RGD:9588484
RGD:8554872
RGD:7240710
brittle cornea syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chst14 carbohydrate sulfotransferase 14 JBrowse link 3 110,734,105 110,736,162 RGD:8554872
G Prdm5 PR/SET domain 5 JBrowse link 4 96,659,062 96,810,816 RGD:13592920
G Zfp469 zinc finger protein 469 JBrowse link 19 54,843,864 55,083,935 RGD:13592920
RGD:8554872
Brittle Cornea Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prdm5 PR/SET domain 5 JBrowse link 4 96,659,062 96,810,816 RGD:8554872
G Zfp469 zinc finger protein 469 JBrowse link 19 54,843,864 55,083,935 RGD:7240710
RGD:8554872
RGD:11554173
Brittle Cornea Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prdm5 PR/SET domain 5 JBrowse link 4 96,659,062 96,810,816 RGD:7240710
RGD:8554872
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 40 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nhs NHS actin remodeling regulator JBrowse link X 34,312,102 34,675,912 RGD:7240710
RGD:8554872
CEREBRAL-CEREBELLAR-COLOBOMA SYNDROME, X-LINKED term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wdr45 WD repeat domain 45 JBrowse link X 15,621,249 15,627,159 RGD:8554872
Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hdac6 histone deacetylase 6 JBrowse link X 15,295,372 15,316,673 RGD:7240710
RGD:8554872
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
COACH syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cc2d2a coiled-coil and C2 domain containing 2A JBrowse link 14 71,895,128 71,979,452 RGD:7240710
RGD:8554872
G Rpgrip1l Rpgrip1-like JBrowse link 19 17,115,266 17,208,055 RGD:7240710
RGD:8554872
G Tmem67 transmembrane protein 67 JBrowse link 5 25,666,138 25,721,056 RGD:7240710
RGD:8554872
RGD:11535946
RGD:11535944
CODAS syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lonp1 lon peptidase 1, mitochondrial JBrowse link 9 10,428,853 10,441,180 RGD:8554872
RGD:7240710
Cole-Carpenter syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G P4hb prolyl 4-hydroxylase subunit beta JBrowse link 10 109,736,459 109,748,070 RGD:11554173
G Sec24d SEC24 homolog D, COPII coat complex component JBrowse link 2 227,455,704 227,562,801 RGD:11554173
Cole-Carpenter Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G P4hb prolyl 4-hydroxylase subunit beta JBrowse link 10 109,736,459 109,748,070 RGD:7240710
RGD:8554872
Cole-Carpenter Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sec24d SEC24 homolog D, COPII coat complex component JBrowse link 2 227,455,704 227,562,801 RGD:7240710
RGD:8554872
coloboma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Actb actin, beta JBrowse link 12 13,715,843 13,718,813 RGD:11554173
G Actg1 actin, gamma 1 JBrowse link 10 109,518,429 109,521,288 RGD:11554173
G Aldh7a1 aldehyde dehydrogenase 7 family, member A1 JBrowse link 18 51,619,007 51,651,267 RGD:11554173
G Bfsp1 beaded filament structural protein 1 JBrowse link 3 137,935,345 137,992,652 RGD:8554872
G Cdk5rap2 CDK5 regulatory subunit associated protein 2 JBrowse link 5 86,387,238 86,554,108 RGD:8554872
G Cdon cell adhesion associated, oncogene regulated JBrowse link 8 36,625,757 36,712,091 RGD:8554872
G Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 JBrowse link 6 2,308,179 2,316,739 RGD:8554872
G Fibp FGF1 intracellular binding protein JBrowse link 1 220,840,078 220,844,412 RGD:8554872
G Fzd5 frizzled class receptor 5 JBrowse link 9 71,443,784 71,445,541 RGD:8554872
G Lamb1 laminin subunit beta 1 JBrowse link 6 50,528,796 50,596,593 RGD:11554173
G Mab21l2 mab-21 like 2 JBrowse link 2 185,849,749 185,852,833 RGD:11553846
G Pax6 paired box 6 JBrowse link 3 95,700,241 95,728,682 RGD:7240710
RGD:8554872
G Rbp4 retinol binding protein 4 JBrowse link 1 256,806,476 256,813,678 RGD:8554872
G Sall2 spalt-like transcription factor 2 JBrowse link 15 28,728,471 28,746,042 RGD:8554872
RGD:7240710
G Slbp stem-loop binding protein JBrowse link 14 82,356,916 82,366,368 RGD:11554173
G Slc16a12 solute carrier family 16, member 12 JBrowse link 1 252,976,071 253,054,500 RGD:8554872
G Tmem67 transmembrane protein 67 JBrowse link 5 25,666,138 25,721,056 RGD:8554872
G Wdr37 WD repeat domain 37 JBrowse link 17 57,983,937 58,051,011 RGD:8554872
G Yap1 Yes1 associated transcriptional regulator JBrowse link 8 6,133,014 6,204,240 RGD:8554872
coloboma of optic nerve term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dhx37 DEAH-box helicase 37 JBrowse link 12 36,594,058 36,614,165 RGD:8554872
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
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
congenital aphakia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Foxe3 forkhead box E3 JBrowse link 5 133,724,796 133,725,656 RGD:8554872
RGD:11554173
Congenital Nephrotic Syndrome with or without Ocular Abnormalities term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mmp1 matrix metallopeptidase 1 JBrowse link 8 5,703,206 5,723,593 RGD:7207147
corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Igbp1 immunoglobulin binding protein 1 JBrowse link X 70,322,764 70,345,005 RGD:7240710
RGD:8554872
Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome 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:7240710
RGD:8554872
cryptophthalmia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Frem2 FRAS1 related extracellular matrix 2 JBrowse link 2 142,747,501 142,885,604 RGD:8554872
Desanto-Shinawi Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wac WW domain containing adaptor with coiled-coil JBrowse link 17 60,887,606 60,946,630 RGD:8554872
RGD:7240710
Ectopia Lentis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adamtsl4 ADAMTS-like 4 JBrowse link 2 197,803,572 197,815,058 RGD:8554872
G Fbn1 fibrillin 1 JBrowse link 3 117,569,708 117,766,160 RGD:1580380
RGD:8554872
RGD:12910481
RGD:12910479
RGD:12910140
RGD:12910138
RGD:12904906
RGD:11554173
RGD:1300363
ectopia lentis with ectopia of pupil term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adamtsl4 ADAMTS-like 4 JBrowse link 2 197,803,572 197,815,058 RGD:7240710
RGD:8554872
Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Asph aspartate-beta-hydroxylase JBrowse link 5 22,577,680 22,799,333 RGD:7240710
RGD:8554872
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
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
Fraser syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fras1 Fraser extracellular matrix complex subunit 1 JBrowse link 14 14,438,392 14,853,016 RGD:11554173
G Frem1 Fras1 related extracellular matrix 1 JBrowse link 5 101,018,009 101,166,794 RGD:13592920
G Frem2 FRAS1 related extracellular matrix 2 JBrowse link 2 142,747,501 142,885,604 RGD:11554173
G Grip1 glutamate receptor interacting protein 1 JBrowse link 7 64,672,723 64,854,939 RGD:13592920
Fraser syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fras1 Fraser extracellular matrix complex subunit 1 JBrowse link 14 14,438,392 14,853,016 RGD:1598960
RGD:8554872
RGD:7240710
G Frem2 FRAS1 related extracellular matrix 2 JBrowse link 2 142,747,501 142,885,604 RGD:8554872
G Grip1 glutamate receptor interacting protein 1 JBrowse link 7 64,672,723 64,854,939 RGD:8554872
Fraser syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Frem2 FRAS1 related extracellular matrix 2 JBrowse link 2 142,747,501 142,885,604 RGD:13464328
RGD:8554872
RGD:7240710
G Frem2fpl Fras1 related extracellular matrix protein 2;fpl mutant RGD:13464328
Fraser syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Grip1 glutamate receptor interacting protein 1 JBrowse link 7 64,672,723 64,854,939 RGD:8554872
RGD:7240710
Frontonasal Dysplasia 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alx1 ALX homeobox 1 JBrowse link 7 44,751,865 44,771,458 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
HEART AND BRAIN MALFORMATION SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Smg9 SMG9 nonsense mediated mRNA decay factor JBrowse link 1 81,259,450 81,282,893 RGD:8554872
RGD:7240710
Hereditary Macular Coloboma 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:11554173
Hittner Hirsch Kreh Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chd7 chromodomain helicase DNA binding protein 7 JBrowse link 5 21,769,087 21,952,036 RGD:8554872
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
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Brpf1 bromodomain and PHD finger containing, 1 JBrowse link 4 145,264,445 145,280,943 RGD:8554872
RGD:7240710
iridogoniodysgenesis syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pitx2 paired-like homeodomain 2 JBrowse link 2 233,602,732 233,621,059 RGD:8554872
isolated cryptophthalmia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Frem1 Fras1 related extracellular matrix 1 JBrowse link 5 101,018,009 101,166,794 RGD:11554181
RGD:11554185
G Frem2 FRAS1 related extracellular matrix 2 JBrowse link 2 142,747,501 142,885,604 RGD:8554872
RGD:7240710
isolated microphthalmia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Vsx2 visual system homeobox 2 JBrowse link 6 108,285,031 108,308,588 RGD:8554872
RGD:7240710
isolated microphthalmia 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rax retina and anterior neural fold homeobox JBrowse link 18 61,638,352 61,642,056 RGD:7240710
RGD:8554872
isolated microphthalmia 4 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
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
isolated microphthalmia 6 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:8554872
G Prss56 serine protease 56 JBrowse link 9 94,278,981 94,284,111 RGD:7240710
RGD:8554872
G Vsx2 visual system homeobox 2 JBrowse link 6 108,285,031 108,308,588 RGD:8554872
isolated microphthalmia 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gdf3 growth differentiation factor 3 JBrowse link 4 155,417,667 155,422,014 RGD:7240710
RGD:8554872
isolated microphthalmia 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aldh1a3 aldehyde dehydrogenase 1 family, member A3 JBrowse link 1 127,302,920 127,337,828 RGD:7240710
RGD:8554872
Isolated Microphthalmia with Cataract 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Six6 SIX homeobox 6 JBrowse link 6 95,816,749 95,821,729 RGD:8554872
RGD:11554173
Isolated Microphthalmia with Cataract 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nhs NHS actin remodeling regulator JBrowse link X 34,312,102 34,675,912 RGD:8554872
Isolated Microphthalmia with Coloboma 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rbp4 retinol binding protein 4 JBrowse link 1 256,806,476 256,813,678 RGD:7240710
RGD:8554872
Isolated Microphthalmia with Coloboma 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Vsx2 visual system homeobox 2 JBrowse link 6 108,285,031 108,308,588 RGD:8554872
RGD:7240710
Isolated Microphthalmia with Coloboma 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Shh sonic hedgehog signaling molecule JBrowse link 4 718,538 727,691 RGD:7240710
RGD:8554872
Isolated Microphthalmia with Coloboma 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gdf3 growth differentiation factor 3 JBrowse link 4 155,417,667 155,422,014 RGD:7240710
RGD:8554872
G Gdf6 growth differentiation factor 6 JBrowse link 5 23,056,345 23,072,666 RGD:7240710
RGD:8554872
Isolated Microphthalmia with Coloboma 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcb6 ATP binding cassette subfamily B member 6 JBrowse link 9 82,373,950 82,382,228 RGD:7240710
RGD:8554872
Isolated Microphthalmia with Coloboma 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tenm3 teneurin transmembrane protein 3 JBrowse link 16 46,422,676 46,929,023 RGD:8554872
RGD:7240710
Joubert syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ahi1 Abelson helper integration site 1 JBrowse link 1 16,478,127 16,601,769 RGD:8554872
G Arl13b ADP-ribosylation factor like GTPase 13B JBrowse link 7 1,122,567 1,188,209 RGD:8554872
G B9d1 B9 domain containing 1 JBrowse link 10 47,784,294 47,794,399 RGD:8554872
G Cc2d2a coiled-coil and C2 domain containing 2A JBrowse link 14 71,895,128 71,979,452 RGD:8554872
G Cep290 centrosomal protein 290 JBrowse link 7 40,217,269 40,306,327 RGD:8554872
G Cplane1 ciliogenesis and planar polarity effector 1 JBrowse link 2
2
57,274,175
57,444,373
57,350,003
57,472,465
RGD:8554872
G Inpp5e inositol polyphosphate-5-phosphatase E JBrowse link 3 3,843,307 3,856,154 RGD:7240710
RGD:8554872
RGD:11554173
G Micall2 MICAL-like 2 JBrowse link 12 16,988,013 17,016,794 RGD:8554872
G Mks1 MKS transition zone complex subunit 1 JBrowse link 10 75,149,814 75,160,481 RGD:8554872
G Nphp1 nephrocystin 1 JBrowse link 3 120,316,048 120,370,089 RGD:8554872
G Ofd1 OFD1, centriole and centriolar satellite protein JBrowse link X 29,562,165 29,602,934 RGD:8554872
G Rpgrip1l Rpgrip1-like JBrowse link 19 17,115,266 17,208,055 RGD:8554872
G Tctn1 tectonic family member 1 JBrowse link 12 39,790,948 39,828,215 RGD:11554173
G Tmem216 transmembrane protein 216 JBrowse link 1 226,601,201 226,606,417 RGD:8554872
G Tmem237 transmembrane protein 237 JBrowse link 9 65,882,063 65,917,424 RGD:8554872
G Tmem67 transmembrane protein 67 JBrowse link 5 25,666,138 25,721,056 RGD:8554872
G Ttc21b tetratricopeptide repeat domain 21B JBrowse link 3 52,286,794 52,361,060 RGD:8554872
Joubert Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tmem216 transmembrane protein 216 JBrowse link 1 226,601,201 226,606,417 RGD:7240710
RGD:8554872
RGD:11561919
Joubert syndrome 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cav3 caveolin 3 JBrowse link 4 144,382,945 144,398,919 RGD:8554872
G Cc2d2a coiled-coil and C2 domain containing 2A JBrowse link 14 71,895,128 71,979,452 RGD:7240710
RGD:8554872
RGD:11535976
RGD:11062645
G Cep41 centrosomal protein 41 JBrowse link 4 57,966,783 58,006,931 RGD:8554872
G Smad6 SMAD family member 6 JBrowse link 8 68,897,746 68,967,221 RGD:8554872
Kahrizi syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Srd5a3 steroid 5 alpha-reductase 3 JBrowse link 14 34,554,769 34,570,423 RGD:7240710
RGD:8554872
Kaufman oculocerebrofacial syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ube3b ubiquitin protein ligase E3B JBrowse link 12 47,946,691 47,991,973 RGD:8554872
RGD:7240710
RGD:11554173
linear skin defects with multiple congenital anomalies 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cox7b cytochrome c oxidase subunit 7B JBrowse link X 77,065,427 77,071,676 RGD:11554173
G Hccs holocytochrome c synthase JBrowse link X 26,294,028 26,303,461 RGD:7240710
RGD:8554872
G Ndufb11 NADH:ubiquinone oxidoreductase subunit B11 JBrowse link X 1,787,266 1,789,524 RGD:11554173
RGD:8554872
Marden-Walker Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Piezo2 piezo-type mechanosensitive ion channel component 2 JBrowse link 18 58,353,361 58,728,555 RGD:7240710
RGD:8554872
Marles Greenberg Persaud Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Frem1 Fras1 related extracellular matrix 1 JBrowse link 5 101,018,009 101,166,794 RGD:7240710
RGD:8554872
RGD:11070482
RGD:11554173
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
microphthalmia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adam17 ADAM metallopeptidase domain 17 JBrowse link 6 43,400,525 43,448,280 RGD:8554872
G Arhgap6 Rho GTPase activating protein 6 JBrowse link X 26,314,561 26,845,242 RGD:13592920
G Arr3 arrestin 3 JBrowse link X 70,438,590 70,452,140 RGD:8554872
G Cdh1 cadherin 1 JBrowse link 19 38,768,467 38,838,395 RGD:8554872
G Cep83 centrosomal protein 83 JBrowse link 7 35,739,553 35,847,618 RGD:8554872
G Chrd chordin JBrowse link 11 83,858,503 83,867,543 RGD:8554872
G Cyp26c1 cytochrome P450, family 26, subfamily C, polypeptide 1 JBrowse link 1 256,369,410 256,380,649 RGD:8554872
G Dicer1 dicer 1 ribonuclease III JBrowse link 6 128,388,084 128,453,234 RGD:8554872
G Dyrk1a dual specificity tyrosine phosphorylation regulated kinase 1A JBrowse link 11 34,858,339 34,958,733 RGD:8554872
G Efhd1 EF-hand domain family, member D1 JBrowse link 9 94,362,249 94,408,884 RGD:8554872
G Ercc6 ERCC excision repair 6, chromatin remodeling factor JBrowse link 16 8,734,028 8,804,610 RGD:11554173
G Fancd2 FA complementation group D2 JBrowse link 4 145,489,869 145,551,479 RGD:11344906
G Fat4 FAT atypical cadherin 4 JBrowse link 2 125,751,818 125,879,398 RGD:8554872
G Fgfr3 fibroblast growth factor receptor 3 JBrowse link 14 82,272,322 82,287,739 RGD:8554872
G Fras1 Fraser extracellular matrix complex subunit 1 JBrowse link 14 14,438,392 14,853,016 RGD:8554872
G Gja8 gap junction protein, alpha 8 JBrowse link 2 199,050,854 199,052,470 RGD:2293186
G Gja8m1Cub gap junction protein, alpha 8; mutant 1 Cub RGD:2293186
G Gli2 GLI family zinc finger 2 JBrowse link 13 34,829,021 35,049,172 RGD:8554872
G Hccs holocytochrome c synthase JBrowse link X 26,294,028 26,303,461 RGD:1600417
RGD:13592920
G Hmx1 H6 family homeobox 1 JBrowse link 14 80,540,558 80,544,607 RGD:11554173
G Ift172 intraflagellar transport 172 JBrowse link 6 26,390,686 26,485,459 RGD:8554872
G Krtcap3 keratinocyte associated protein 3 JBrowse link 6 26,485,126 26,486,695 RGD:8554872
G Lrp5 LDL receptor related protein 5 JBrowse link 1 218,816,833 218,920,147 RGD:12793059
G Map3k1 mitogen-activated protein kinase kinase kinase 1 JBrowse link 2 43,329,516 43,393,203 RGD:8554872
G Mfrp membrane frizzled-related protein JBrowse link 8 48,437,720 48,443,421 RGD:11553922
G Mid1 midline 1 JBrowse link X 25,458,782 25,839,941 RGD:13592920
G Mitf melanocyte inducing transcription factor JBrowse link 4 130,172,484 130,425,496 RGD:8554872
G Myo1c myosin 1C JBrowse link 10 63,803,311 63,819,614 RGD:8554872
G Ndst2 N-deacetylase and N-sulfotransferase 2 JBrowse link 15 3,995,797 4,006,491 RGD:8554872
G Notch1 notch receptor 1 JBrowse link 3 3,905,562 3,951,015 RGD:8554872
G Notch4 notch receptor 4 JBrowse link 20 4,329,794 4,353,868 RGD:8554872
G Nr5a2 nuclear receptor subfamily 5, group A, member 2 JBrowse link 13 53,750,470 53,870,288 RGD:8554872
G Pax6 paired box 6 JBrowse link 3 95,700,241 95,728,682 RGD:8552240
RGD:8554872
G Pfkp phosphofructokinase, platelet JBrowse link 17 68,510,765 68,574,387 RGD:8554872
G Pitx3 paired-like homeodomain 3 JBrowse link 1 265,886,766 265,899,947 RGD:11535071
RGD:11554173
G Plxnc1 plexin C1 JBrowse link 7 35,848,083 36,000,969 RGD:8554872
G Prss56 serine protease 56 JBrowse link 9 94,278,981 94,284,111 RGD:11554173
G Ptch1 patched 1 JBrowse link 17 1,032,242 1,085,885 RGD:8554872
G Ralbp1 ralA binding protein 1 JBrowse link 9 113,579,107 113,598,477 RGD:13592920
G Rax retina and anterior neural fold homeobox JBrowse link 18 61,638,352 61,642,056 RGD:8554872
G Rpgrip1 RPGR interacting protein 1 JBrowse link 15 28,521,287 28,575,046 RGD:8554872
G Sall3 spalt-like transcription factor 3 JBrowse link 18 77,572,200 77,591,710 RGD:8554872
G Sez6l2 seizure related 6 homolog like 2 JBrowse link 1 198,383,201 198,403,544 RGD:8554872
G Sfrp2 secreted frizzled-related protein 2 JBrowse link 2 182,723,732 182,731,277 RGD:8554872
G Sox14 SRY-box transcription factor 14 JBrowse link 8 108,107,865 108,109,801 RGD:8554872
G Stau2 staufen double-stranded RNA binding protein 2 JBrowse link 5 2,257,910 2,497,429 RGD:10043154
G Stra6 signaling receptor and transporter of retinol STRA6 JBrowse link 8 62,925,364 62,944,438 RGD:11554173
RGD:8554872
G Sulf1 sulfatase 1 JBrowse link 5 5,999,520 6,186,901 RGD:8554872
G Tamalin trafficking regulator and scaffold protein tamalin JBrowse link 7 142,869,785 142,877,551 RGD:8554872
G Tfap2a transcription factor AP-2 alpha JBrowse link 17 24,653,342 24,670,457 RGD:8554872
G Tshz2 teashirt zinc finger homeobox 2 JBrowse link 3 166,469,752 166,748,558 RGD:8554872
G Vax2 ventral anterior homeobox 2 JBrowse link 4 115,388,839 115,412,515 RGD:8554872
G Vsx2 visual system homeobox 2 JBrowse link 6 108,285,031 108,308,588 RGD:8554872
G Wnt7a Wnt family member 7A JBrowse link 4 122,994,425 123,040,609 RGD:8554872
Microphthalmia, Cataracts, and Iris Abnormalities term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Smad4 SMAD family member 4 JBrowse link 18 69,626,682 69,657,373 RGD:12880033
G Vsx2 visual system homeobox 2 JBrowse link 6 108,285,031 108,308,588 RGD:8554872
Microspherophakia 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: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
nanophthalmos 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:13592920
RGD:8554872
G Tmem98 transmembrane protein 98 JBrowse link 10 68,173,380 68,184,289 RGD:13592920
Nanophthalmos 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myrf myelin regulatory factor JBrowse link 1 226,260,558 226,292,650 RGD:8554872
Nanophthalmos 2 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
Nanophthalmos 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tmem98 transmembrane protein 98 JBrowse link 10 68,173,380 68,184,289 RGD:7240710
RGD:8554872
Nasopalpebral Lipoma Coloboma Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Zdbf2 zinc finger, DBF-type containing 2 JBrowse link 9 70,052,088 70,090,847 RGD:8554872
nephrotic syndrome type 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lamb2 laminin subunit beta 2 JBrowse link 8 117,268,335 117,280,517 RGD:7240710
RGD:8554872
Neurodevelopmental Disorder with or without Anomalies of the Brain, Eye, or Heart term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rere arginine-glutamic acid dipeptide repeats JBrowse link 5 167,330,966 167,664,506 RGD:8554872
RGD:7240710
oblique facial clefting 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Specc1l sperm antigen with calponin homology and coiled-coil domains 1-like JBrowse link 20 14,287,470 14,393,879 RGD:7240710
RGD:8554872
oculoauricular syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fadd Fas associated via death domain JBrowse link 1 217,746,176 217,748,581 RGD:11554173
G Hmx1 H6 family homeobox 1 JBrowse link 14 80,540,558 80,544,607 RGD:7240710
RGD:11554173
RGD:8554872
oculodentodigital dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gja1 gap junction protein, alpha 1 JBrowse link 20 37,876,650 37,889,097 RGD:1578474
RGD:8554872
RGD:11554173
RGD:12910132
RGD:8662400
RGD:8662375
RGD:8662372
RGD:7240710
Oculodentodigital Dysplasia, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gja1 gap junction protein, alpha 1 JBrowse link 20 37,876,650 37,889,097 RGD:7240710
RGD:8554872
Ohdo syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Med12 mediator complex subunit 12 JBrowse link X 71,174,653 71,197,812 RGD:11554173
Ohdo Syndrome, X-Linked term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Med12 mediator complex subunit 12 JBrowse link X 71,174,653 71,197,812 RGD:7240710
RGD:8554872
RGD:12910951
optic disc anomalies with retinal and/or macular dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Six6 SIX homeobox 6 JBrowse link 6 95,816,749 95,821,729 RGD:7240710
RGD:8554872
persistent hyperplastic primary vitreous 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:13592920
G Cdkn2a cyclin-dependent kinase inhibitor 2A JBrowse link 5 107,823,323 107,832,405 RGD:8552304
G Pax6 paired box 6 JBrowse link 3 95,700,241 95,728,682 RGD:8551891
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
Peters anomaly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 JBrowse link 6 2,308,179 2,316,739 RGD:7800682
RGD:8554872
G Dab1 DAB adaptor protein 1 JBrowse link 5 123,154,360 124,279,170 RGD:8554872
G Elp4 elongator acetyltransferase complex subunit 4 JBrowse link 3 95,733,810 95,954,987 RGD:8554872
G Ephb2 Eph receptor B2 JBrowse link 5 155,024,478 155,143,539 RGD:8554872
G Fat1 FAT atypical cadherin 1 JBrowse link 16 50,372,150 50,501,716 RGD:8554872
G Fat4 FAT atypical cadherin 4 JBrowse link 2 125,751,818 125,879,398 RGD:8554872
G Frem1 Fras1 related extracellular matrix 1 JBrowse link 5 101,018,009 101,166,794 RGD:8554872
G Pax6 paired box 6 JBrowse link 3 95,700,241 95,728,682 RGD:8551891
RGD:11554173
RGD:8554872
G Pitrm1 pitrilysin metallopeptidase 1 JBrowse link 17 68,477,423 68,509,113 RGD:8554872
G Pitx2 paired-like homeodomain 2 JBrowse link 2 233,602,732 233,621,059 RGD:8554872
G Prpf8 pre-mRNA processing factor 8 JBrowse link 10 63,635,239 63,658,360 RGD:8554872
G Ptch1 patched 1 JBrowse link 17 1,032,242 1,085,885 RGD:8554872
G Rarg retinoic acid receptor, gamma JBrowse link 7 143,840,739 143,863,206 RGD:8554872
G Rmdn2 regulator of microtubule dynamics 2 JBrowse link 6 2,215,062 2,292,288 RGD:8554872
Peters plus syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G B3glct beta 3-glucosyltransferase JBrowse link 12 6,403,118 6,476,010 RGD:7240710
RGD:8554872
RGD:11554173
G Fgf8 fibroblast growth factor 8 JBrowse link 1 265,492,949 265,498,965 RGD:8554872
PHACE Association term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Braf B-Raf proto-oncogene, serine/threonine kinase JBrowse link 4 67,389,331 67,520,549 RGD:8554872
Pierson syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lamb2 laminin subunit beta 2 JBrowse link 8 117,268,335 117,280,517 RGD:7207425
RGD:8554872
RGD:11554173
RGD:7240710
G Tns2 tensin 2 JBrowse link 7 143,702,623 143,720,995 RGD:13592920
popliteal pterygium syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Irf6 interferon regulatory factor 6 JBrowse link 13 111,870,121 111,889,328 RGD:7240710
RGD:8554872
G Ripk4 receptor-interacting serine-threonine kinase 4 JBrowse link 11 38,251,991 38,274,234 RGD:8554872
RGD:13592920
Popliteal Pterygium Syndrome, Lethal Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ripk4 receptor-interacting serine-threonine kinase 4 JBrowse link 11 38,251,991 38,274,234 RGD:7240710
RGD:8554872
renal coloboma syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pax2 paired box 2 JBrowse link 1 264,493,579 264,585,073 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 AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mir204 microRNA 204 JBrowse link 1 240,403,000 240,403,109 RGD:7240710
RGD:8554872
G Trpm3 transient receptor potential cation channel, subfamily M, member 3 JBrowse link 1 239,741,572 240,757,583 RGD:8554872
Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rbp4 retinol binding protein 4 JBrowse link 1 256,806,476 256,813,678 RGD:7240710
RGD:8554872
Stromme syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cenpf centromere protein F JBrowse link 13 108,132,499 108,178,609 RGD:8554872
RGD:7240710
syndromic microphthalmia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bmp4 bone morphogenetic protein 4 JBrowse link 15 20,776,060 20,791,013 RGD:8554872
G Otx2 orthodenticle homeobox 2 JBrowse link 15 25,500,037 25,511,619 RGD:8554872
syndromic microphthalmia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bcor BCL6 co-repressor JBrowse link X 11,570,155 11,692,022 RGD:1600504
RGD:8554872
RGD:11554173
G Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit JBrowse link X 156,863,655 156,868,950 RGD:7240710
RGD:8554872
syndromic microphthalmia 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Vax1 ventral anterior homeobox 1 JBrowse link 1 280,334,897 280,338,813 RGD:7240710
RGD:8554872
syndromic microphthalmia 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rarb retinoic acid receptor, beta JBrowse link 15 9,915,223 10,262,599 RGD:7240710
RGD:8554872
syndromic microphthalmia 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hmgb3 high mobility group box 3 JBrowse link 17 36,690,190 36,694,329 RGD:7240710
syndromic microphthalmia 14 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lrba LPS responsive beige-like anchor protein JBrowse link 2 185,590,983 186,110,491 RGD:8554872
G Mab21l2 mab-21 like 2 JBrowse link 2 185,849,749 185,852,833 RGD:8554872
RGD:7240710
syndromic microphthalmia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bcor BCL6 co-repressor JBrowse link X 11,570,155 11,692,022 RGD:7240710
RGD:8554872
RGD:11554173
syndromic microphthalmia 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Six6 SIX homeobox 6 JBrowse link 6 95,816,749 95,821,729 RGD:11554173
RGD:8554872
G Sox2 SRY-box transcription factor 2 JBrowse link 2 121,165,137 121,167,545 RGD:7240710
RGD:8554872
syndromic microphthalmia 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit JBrowse link X 156,863,655 156,868,950 RGD:8554872
syndromic microphthalmia 5 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 Otx2 orthodenticle homeobox 2 JBrowse link 15 25,500,037 25,511,619 RGD:8554872
RGD:7240710
G Pax6 paired box 6 JBrowse link 3 95,700,241 95,728,682 RGD:8554872
G Six6 SIX homeobox 6 JBrowse link 6 95,816,749 95,821,729 RGD:8554872
G Wnt7b Wnt family member 7B JBrowse link 7 126,423,418 126,465,724 RGD:8554872
syndromic microphthalmia 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bmp4 bone morphogenetic protein 4 JBrowse link 15 20,776,060 20,791,013 RGD:7240710
RGD:8554872
syndromic microphthalmia 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Snx3 sorting nexin 3 JBrowse link 20 47,225,382 47,263,390 RGD:7240710
syndromic microphthalmia 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aldh1a3 aldehyde dehydrogenase 1 family, member A3 JBrowse link 1 127,302,920 127,337,828 RGD:8554872
G Stra6 signaling receptor and transporter of retinol STRA6 JBrowse link 8 62,925,364 62,944,438 RGD:8554872
RGD:7240710
RGD:11554173
G Wnt7b Wnt family member 7B JBrowse link 7 126,423,418 126,465,724 RGD:8554872
Temtamy syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acsm4 acyl-CoA synthetase medium-chain family member 4 JBrowse link 1 189,432,604 189,458,799 RGD:8554872
G Aicda activation-induced cytidine deaminase JBrowse link 4 155,359,909 155,371,104 RGD:8554872
G Apobec1 apolipoprotein B mRNA editing enzyme catalytic subunit 1 JBrowse link 4 155,386,367 155,414,034 RGD:8554872
G Atn1 atrophin 1 JBrowse link 4 157,267,394 157,281,199 RGD:8554872
G C1r complement C1r JBrowse link 4 157,126,060 157,136,825 RGD:8554872
G C1rl complement C1r subcomponent like JBrowse link 4 157,108,190 157,122,689 RGD:8554872
G C1s complement C1s JBrowse link 4 157,143,592 157,155,592 RGD:8554872
G C3ar1 complement C3a receptor 1 JBrowse link 4 155,681,767 155,691,240 RGD:8554872
G Cd163 CD163 molecule JBrowse link 4 156,752,063 156,785,467 RGD:8554872
G Cdca3 cell division cycle associated 3 JBrowse link 4 157,347,876 157,351,889 RGD:8554872
G Clec4a1 C-type lectin domain family 4, member A1 JBrowse link 4 155,947,794 155,959,909 RGD:8554872
G Clec4a3 C-type lectin domain family 4, member A3 JBrowse link 4 155,913,366 155,923,079 RGD:8554872
G Clec4b2 C-type lectin domain family 4, member B2 JBrowse link 4 156,107,720 156,131,226 RGD:8554872
G Clec4d C-type lectin domain family 4, member D JBrowse link 4 156,253,084 156,264,766 RGD:8554872
G Clec4e C-type lectin domain family 4, member E JBrowse link 4 156,271,087 156,276,243 RGD:8554872
G Clstn3 calsyntenin 3 JBrowse link 4 157,044,736 157,078,013 RGD:8554872
G Dppa3 developmental pluripotency-associated 3 JBrowse link 4 155,437,675 155,441,059 RGD:8554872
G Emg1 EMG1 N1-specific pseudouridine methyltransferase JBrowse link 4 157,222,366 157,230,647 RGD:8554872
G Eno2 enolase 2 JBrowse link 4 157,285,192 157,294,090 RGD:8554872
G Fam90a1 family with sequence similarity 90, member A1 JBrowse link 16 75,001,033 75,016,173 RGD:8554872
G Foxj2 forkhead box J2 JBrowse link 4 155,653,446 155,679,815 RGD:8554872
G Gdf3 growth differentiation factor 3 JBrowse link 4 155,417,667 155,422,014 RGD:8554872
G Gnb3 G protein subunit beta 3 JBrowse link 4 157,352,558 157,359,237 RGD:8554872
G Grcc10 gene rich cluster, C10 gene JBrowse link 4 157,264,383 157,266,042 RGD:7240710
RGD:8554872
G Lpcat3 lysophosphatidylcholine acyltransferase 3 JBrowse link 4 157,181,722 157,222,997 RGD:8554872
G Lrrc23 leucine rich repeat containing 23 JBrowse link 4 157,294,386 157,304,590 RGD:8554872
G Mfap5 microfibril associated protein 5 JBrowse link 4 155,313,671 155,336,228 RGD:8554872
G Mir141 microRNA 141 JBrowse link 4 157,236,346 157,236,439 RGD:8554872
G Mir200c microRNA 200c JBrowse link 4 157,236,786 157,236,854 RGD:8554872
G Nanog Nanog homeobox JBrowse link 4 155,531,906 155,539,268 RGD:8554872
G Necap1 NECAP endocytosis associated 1 JBrowse link 4 155,709,712 155,724,801 RGD:8554872
G P3h3 prolyl 3-hydroxylase 3 JBrowse link 4 157,359,331 157,375,186 RGD:8554872
G Pex5 peroxisomal biogenesis factor 5 JBrowse link 4 156,983,914 157,009,675 RGD:8554872
G Phb2 prohibitin 2 JBrowse link 4 157,230,769 157,235,375 RGD:8554872
G Ptpn6 protein tyrosine phosphatase, non-receptor type 6 JBrowse link 4 157,239,141 157,263,890 RGD:8554872
G Rimklb ribosomal modification protein rimK-like family member B JBrowse link 4 155,258,241 155,292,809 RGD:8554872
G Slc2a3 solute carrier family 2 member 3 JBrowse link 4 155,549,991 155,626,018 RGD:8554872
G Tpi1 triosephosphate isomerase 1 JBrowse link 4 157,328,375 157,331,905 RGD:8554872
G Usp5 ubiquitin specific peptidase 5 JBrowse link 4 157,332,735 157,347,803 RGD:8554872
uveal coloboma-cleft lip and palate-intellectual disability term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Yap1 Yes1 associated transcriptional regulator JBrowse link 8 6,133,014 6,204,240 RGD:7240710
RGD:8554872
Van den Ende-Gupta syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Scarf2 scavenger receptor class F, member 2 JBrowse link 11 87,722,350 87,733,734 RGD:7240710
RGD:8554872
WAGR 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
RGD:11554173
G Wt1 WT1 transcription factor JBrowse link 3 95,133,221 95,180,574 RGD:1331525
RGD:8554872
RGD:11554173
Weill-Marchesani Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fbn1 fibrillin 1 JBrowse link 3 117,569,708 117,766,160 RGD:8554872
RGD:7240710
X-linked exudative vitreoretinopathy 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ndp norrin cystine knot growth factor NDP JBrowse link X 6,791,090 6,815,586 RGD:8694209
RGD:8554872
RGD:7240710
Zunich Neuroectodermal Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pigl phosphatidylinositol glycan anchor biosynthesis, class L JBrowse link 10 48,774,018 48,831,848 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16021
    sensory system disease 4979
      eye disease 2391
        Eye Abnormalities 332
          3MC syndrome 1 15
          Ankyloblepharon Filiforme Adnatum 0
          Anophthalmia + 10
          Asymmetric Short Stature Syndrome 0
          Axenfeld-Rieger syndrome + 31
          Basel-Vanagaite-Smirin-Yosef syndrome 1
          Blue Diaper Syndrome 0
          Brachymetapody-Anodontia-Hypotrichosis-Albinoidism 0
          CODAS syndrome 1
          Chemke Oliver Mallek Syndrome 0
          Choroidal Effusions + 0
          Cole-Carpenter syndrome + 2
          Colobomatous Macrophthalmia with Microcornea 0
          Congenital Nephrotic Syndrome with or without Ocular Abnormalities + 2
          Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome 1
          Craniosynostosis with Ocular Abnormalities and Hallucal Defects 0
          De Hauwere syndrome 0
          Desanto-Shinawi Syndrome 1
          Diffuse Renal Mesangial Sclerosis, with Ocular Abnormalities 0
          Dwarfism Stiff Joint Ocular Abnormalities 0
          Ectopia Lentis + 4
          Egg-Shaped Pupil 0
          FACES Syndrome 0
          Foveal Hypoplasia and Anterior Segment Dysgenesis 1
          Fronto-Facio-Nasal Dysplasia 0
          Frontoocular Syndrome 0
          Goniodysgenesis-Mental Retardation-Short Stature Syndrome 0
          Joubert Syndrome 2 1
          Joubert syndrome 1 17
          Joubert syndrome 9 4
          Kapur Toriello Syndrome 0
          MOMES Syndrome 0
          Maxillofacial Dysostosis 0
          Microcornea, Glaucoma, and Absent Frontal Sinuses 0
          Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus 1
          Nephrotic Syndrome with Ocular Anomalies 0
          Neurodevelopmental Disorder with or without Anomalies of the Brain, Eye, or Heart 1
          Oculoauriculofrontonasal Syndrome 0
          Oculocerebrocutaneous Syndrome 0
          Oculopalatocerebral Syndrome 0
          Oculorenocerebellar Syndrome 0
          PHACE Association 1
          Pena Shokeir Syndrome Type 2 0
          Pierson syndrome 2
          Prepapillary Vascular Loops 0
          Pupillary Membrane, Persistence of 0
          Retinal Dysplasia + 3
          Rozin Hertz Goodman Syndrome 0
          Schmid-Fraccaro Syndrome 0
          Stromme syndrome 1
          ablepharon macrostomia syndrome 1
          aniridia + 24
          ankyloblepharon-ectodermal defects-cleft lip/palate syndrome 1
          anterior segment dysgenesis + 24
          blepharophimosis + 15
          brittle cornea syndrome + 3
          chromosome 6pter-p24 deletion syndrome 0
          coloboma + 81
          cryptophthalmia + 5
          exudative vitreoretinopathy + 21
          hydrophthalmos + 8
          iridogoniodysgenesis syndrome + 2
          microphthalmia + 92
          oblique facial clefting 1 1
          oculoauricular syndrome 2
          oculodentodigital dysplasia + 1
          persistent hyperplastic primary vitreous + 4
          popliteal pterygium syndrome + 2
          torsion dystonia with onset in infancy 0
Path 2
Term Annotations click to browse term
  disease 16021
    disease of anatomical entity 15274
      nervous system disease 10770
        sensory system disease 4979
          eye disease 2391
            Eye Abnormalities 332
              3MC syndrome 1 15
              Ankyloblepharon Filiforme Adnatum 0
              Anophthalmia + 10
              Asymmetric Short Stature Syndrome 0
              Axenfeld-Rieger syndrome + 31
              Basel-Vanagaite-Smirin-Yosef syndrome 1
              Blue Diaper Syndrome 0
              Brachymetapody-Anodontia-Hypotrichosis-Albinoidism 0
              CODAS syndrome 1
              Chemke Oliver Mallek Syndrome 0
              Choroidal Effusions + 0
              Cole-Carpenter syndrome + 2
              Colobomatous Macrophthalmia with Microcornea 0
              Congenital Nephrotic Syndrome with or without Ocular Abnormalities + 2
              Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome 1
              Craniosynostosis with Ocular Abnormalities and Hallucal Defects 0
              De Hauwere syndrome 0
              Desanto-Shinawi Syndrome 1
              Diffuse Renal Mesangial Sclerosis, with Ocular Abnormalities 0
              Dwarfism Stiff Joint Ocular Abnormalities 0
              Ectopia Lentis + 4
              Egg-Shaped Pupil 0
              FACES Syndrome 0
              Foveal Hypoplasia and Anterior Segment Dysgenesis 1
              Fronto-Facio-Nasal Dysplasia 0
              Frontoocular Syndrome 0
              Goniodysgenesis-Mental Retardation-Short Stature Syndrome 0
              Joubert Syndrome 2 1
              Joubert syndrome 1 17
              Joubert syndrome 9 4
              Kapur Toriello Syndrome 0
              MOMES Syndrome 0
              Maxillofacial Dysostosis 0
              Microcornea, Glaucoma, and Absent Frontal Sinuses 0
              Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus 1
              Nephrotic Syndrome with Ocular Anomalies 0
              Neurodevelopmental Disorder with or without Anomalies of the Brain, Eye, or Heart 1
              Oculoauriculofrontonasal Syndrome 0
              Oculocerebrocutaneous Syndrome 0
              Oculopalatocerebral Syndrome 0
              Oculorenocerebellar Syndrome 0
              PHACE Association 1
              Pena Shokeir Syndrome Type 2 0
              Pierson syndrome 2
              Prepapillary Vascular Loops 0
              Pupillary Membrane, Persistence of 0
              Retinal Dysplasia + 3
              Rozin Hertz Goodman Syndrome 0
              Schmid-Fraccaro Syndrome 0
              Stromme syndrome 1
              ablepharon macrostomia syndrome 1
              aniridia + 24
              ankyloblepharon-ectodermal defects-cleft lip/palate syndrome 1
              anterior segment dysgenesis + 24
              blepharophimosis + 15
              brittle cornea syndrome + 3
              chromosome 6pter-p24 deletion syndrome 0
              coloboma + 81
              cryptophthalmia + 5
              exudative vitreoretinopathy + 21
              hydrophthalmos + 8
              iridogoniodysgenesis syndrome + 2
              microphthalmia + 92
              oblique facial clefting 1 1
              oculoauricular syndrome 2
              oculodentodigital dysplasia + 1
              persistent hyperplastic primary vitreous + 4
              popliteal pterygium syndrome + 2
              torsion dystonia with onset in infancy 0
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.