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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:ocular hypertension
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Accession:DOID:9282 term browser browse the term
Definition:An eye disease that is characterized by elevated intraocular pressure in the absence of optic nerve damage or visual field loss. (DO)
Synonyms:exact_synonym: Suspect Glaucoma;   ocular hypertensions;   suspect glaucomas
 primary_id: MESH:D009798
 xref: EFO:1001069;   ICD10CM:H40.05;   ICD9CM:365.04;   NCI:C3285

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ocular hypertension term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acsm3 acyl-CoA synthetase medium chain family member 3 ISO mRNA, protein:increased expression:retina, muller cell RGD PMID:17102796 RGD:1601004 NCBI chrNW_004936501:6,077,366...6,095,432
Ensembl chrNW_004936501:6,078,219...6,095,538 		JBrowse link
G Apoa1 apolipoprotein A1 ISO protein:increased expression:retina RGD PMID:18626730 RGD:2303613 NCBI chrNW_004936542:2,111,055...2,112,626
Ensembl chrNW_004936542:2,111,052...2,112,854 		JBrowse link
G Aqp4 aquaporin 4 ISO RGD PMID:22943863 RGD:8698651 NCBI chrNW_004936550:5,931,201...5,943,999
Ensembl chrNW_004936550:5,931,194...5,941,354 		JBrowse link
G Bcl2l1 BCL2 like 1 ISO mRNA:increased expression:retina RGD PMID:17640403 RGD:1643493 NCBI chrNW_004936485:18,654,046...18,707,324 JBrowse link
G Bmp4 bone morphogenetic protein 4 ISO RGD PMID:11722794 RGD:8698668 NCBI chrNW_004936697:1,054,237...1,061,468
Ensembl chrNW_004936697:1,056,636...1,061,468 		JBrowse link
G C3 complement C3 ISO mRNA, protein:increased expression:retina RGD PMID:16677633 RGD:1599509 NCBI chrNW_004936588:3,985,732...4,023,221 JBrowse link
G Cdkn1a cyclin dependent kinase inhibitor 1A ISO RGD PMID:14985792 RGD:8661805 NCBI chrNW_004936476:22,717,308...22,725,127
Ensembl chrNW_004936476:22,717,260...22,725,182 		JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO RGD PMID:19797236 RGD:8552669 NCBI chrNW_004936490:11,448,552...11,465,836
Ensembl chrNW_004936490:11,448,654...11,464,444 		JBrowse link
G Cryaa crystallin alpha A ISO protein:decreased expression:retina RGD PMID:18626730 RGD:2303613 NCBI chrNW_004936500:931,804...935,185
Ensembl chrNW_004936500:931,754...935,296 		JBrowse link
G Cryba1 crystallin beta A1 ISO mRNA:decreased expression:retina RGD PMID:17102796 RGD:1601004 NCBI chrNW_004936538:5,392,159...5,400,583
Ensembl chrNW_004936538:5,392,105...5,400,070 		JBrowse link
G Ddit3 DNA damage inducible transcript 3 ISO CTD Direct Evidence: therapeutic CTD PMID:24691439 NCBI chrNW_004936646:1,665,019...1,669,212 JBrowse link
G Fas Fas cell surface death receptor ISO protein:increased expression:retina, microglial cell RGD PMID:17045251 RGD:1600312 NCBI chrNW_004936735:209,369...234,582 JBrowse link
G Gli1 GLI family zinc finger 1 ISO mRNA, protein:increased expression:retinal ganglion cell RGD PMID:20071678 RGD:2324982 NCBI chrNW_004936646:1,622,308...1,629,787
Ensembl chrNW_004936646:1,622,308...1,629,779 		JBrowse link
G Mmp1 matrix metallopeptidase 1 treatment ISO CTD Direct Evidence: therapeutic RGD
CTD		 PMID:20089869 RGD:8549723 NCBI chrNW_004936551:5,167,909...5,175,149
Ensembl chrNW_004936551:5,168,044...5,174,857 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO mRNA, protein:increased expression:eye RGD PMID:19575923 RGD:2325732 NCBI chrNW_004936475:7,801,356...7,825,831
Ensembl chrNW_004936475:7,801,277...7,825,851 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO mRNA, protein:increased expression:eye RGD PMID:19575923 RGD:2325732 NCBI chrNW_004936514:7,038,240...7,045,873
Ensembl chrNW_004936514:7,037,639...7,045,793 		JBrowse link
G Myoc myocilin treatment ISO mRNA:decreased expression:eye, trabecular mesh (mouse)
associated with Glaucoma, Primary Open Angle; DNA:snp:cds:p.T377M (human)
mRNA:increased expression:retina (rat)		 RGD PMID:17102796 PMID:20107173 PMID:23322580 RGD:1601004 RGD:7394804 RGD:7394831 NCBI chrNW_004936481:15,544,733...15,556,813
Ensembl chrNW_004936481:15,544,660...15,556,857 		JBrowse link
G Nr3c1 nuclear receptor subfamily 3 group C member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17563720 NCBI chrNW_004936504:10,960,069...11,056,834
Ensembl chrNW_004936504:10,959,192...11,056,856 		JBrowse link
G Opa1 OPA1 mitochondrial dynamin like GTPase ISO mRNA, protein:increased expression:retina RGD PMID:21220562 RGD:7800684 NCBI chrNW_004936711:1,027,531...1,113,796
Ensembl chrNW_004936711:1,032,935...1,106,847 		JBrowse link
G Sh3pxd2b SH3 and PX domains 2B ISO CTD Direct Evidence: marker/mechanism CTD PMID:28719234 NCBI chrNW_004936609:2,934,814...2,975,111
Ensembl chrNW_004936609:2,926,771...2,978,914 		JBrowse link
G Shh sonic hedgehog signaling molecule ISO RGD PMID:20071678 RGD:2324982 NCBI chrNW_004936527:10,033,095...10,042,713
Ensembl chrNW_004936527:10,033,299...10,042,599 		JBrowse link
G Smo smoothened, frizzled class receptor ISO mRNA, protein:increased expression:retinal ganglion cell RGD PMID:20071678 RGD:2324982 NCBI chrNW_004936579:5,893,064...5,917,021
Ensembl chrNW_004936579:5,892,542...5,917,281 		JBrowse link
G Sod1 superoxide dismutase 1 ISO protein:decreased expression:retina RGD PMID:18626730 RGD:2303613 NCBI chrNW_004936500:10,345,154...10,352,873
Ensembl chrNW_004936500:10,345,154...10,352,867 		JBrowse link
G Tpi1 triosephosphate isomerase 1 ISO protein:decreased expression:retina RGD PMID:18626730 RGD:2303613 NCBI chrNW_004936709:948,151...951,430
Ensembl chrNW_004936709:945,201...951,441 		JBrowse link
angle-closure glaucoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoe apolipoprotein E susceptibility ISO DNA:polymorphism:exon: RGD PMID:17706090 RGD:7771556 NCBI chrNW_004936706:1,512,438...1,516,805 JBrowse link
G Cat catalase severity ISO DNA:SNP:promoter:g.4760C>T(rs1001179)(human) RGD PMID:23961996 RGD:9068947 NCBI chrNW_004936533:3,601,270...3,637,128
Ensembl chrNW_004936533:3,600,955...3,637,422 		JBrowse link
G Chat choline O-acetyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:27064256 NCBI chrNW_004936728:653,654...702,433
Ensembl chrNW_004936728:654,638...700,213 		JBrowse link
G Col11a1 collagen type XI alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:22922875 PMID:27064256 NCBI chrNW_004936730:466,912...680,823
Ensembl chrNW_004936730:468,039...680,753 		JBrowse link
G Col18a1 collagen type XVIII alpha 1 chain ISO ClinVar Annotator: match by term: Glaucoma, primary closed-angle ClinVar PMID:12415512 PMID:19160445 PMID:19390655 PMID:20799329 PMID:21862674 More... NCBI chrNW_004936778:847,473...943,038 JBrowse link
G Edn1 endothelin 1 ISO protein:increased expression:plasma (human) RGD PMID:21946544 RGD:8661736 NCBI chrNW_004936534:885,489...892,292
Ensembl chrNW_004936534:885,287...891,772 		JBrowse link
G Epdr1 ependymin related 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27064256 NCBI chrNW_004936478:13,270,227...13,296,711
Ensembl chrNW_004936478:13,270,241...13,296,916 		JBrowse link
G Fermt2 FERM domain containing kindlin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27064256 NCBI chrNW_004936697:1,927,817...2,008,268
Ensembl chrNW_004936697:1,927,812...2,008,268 		JBrowse link
G Glis3 GLIS family zinc finger 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27064256 NCBI chrNW_004936503:989,817...1,283,781
Ensembl chrNW_004936503:853,436...1,287,160 		JBrowse link
G Hgf hepatocyte growth factor susceptibility ISO DNA:SNPs,haplotype::rs5745718,rs1742817(human) RGD PMID:23585864 RGD:8548548 NCBI chrNW_004936734:354,798...428,356
Ensembl chrNW_004936734:356,115...428,779 		JBrowse link
G Loxl1 lysyl oxidase like 1 no_association ISO DNA:SNPs: :rs1048661, rs2165241, rs3825942 (human) RGD PMID:18223248 RGD:7394723 NCBI chrNW_004936471:33,075,542...33,099,877
Ensembl chrNW_004936471:33,075,461...33,099,910 		JBrowse link
G Mmp9 matrix metallopeptidase 9 no_association ISO DNA:SNPs: :rs17576, rs3918249 (human)
DNA:SNP: :c.836A>G (rs17576) (human)
DNA:SNP: :rs2664538 (human)
DNA:SNP:promoter:-1562C>T (human)		 RGD PMID:17110919 PMID:21655354 PMID:23441116 RGD:8547816 RGD:8547830 RGD:8549724 NCBI chrNW_004936514:7,038,240...7,045,873
Ensembl chrNW_004936514:7,037,639...7,045,793 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:SNPs: :677C>T,1298A>C(human) RGD PMID:19936026 RGD:7387250 NCBI chrNW_004936474:623,438...637,849
Ensembl chrNW_004936474:623,291...638,193 		JBrowse link
G Muc5ac mucin 5AC, oligomeric mucus/gel-forming ISO associated with Cataract;protein:decreased expression:tear RGD PMID:21139981 RGD:7364742 NCBI chrNW_004936816:129,926...159,396 JBrowse link
G Nos3 nitric oxide synthase 3 susceptibility ISO DNA:snps:introns:g.IVS5+1182G>A, g.IVS25+11C>A (rs3793342, rs7830) (human)
DNA:duplication:intron:IVS4?-?+27 (human)		 RGD PMID:20069064 PMID:23422825 RGD:7771573 RGD:7775046 NCBI chrNW_004936527:6,427,147...6,445,770
Ensembl chrNW_004936527:6,427,093...6,446,534 		JBrowse link
G Plekha7 pleckstrin homology domain containing A7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22922875 PMID:27064256 NCBI chrNW_004936528:2,093,233...2,219,622
Ensembl chrNW_004936528:2,092,746...2,218,870 		JBrowse link
G Prss56 serine protease 56 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21532570 NCBI chrNW_004936525:4,568,854...4,574,332
Ensembl chrNW_004936525:4,568,802...4,574,396 		JBrowse link
G Sh3pxd2b SH3 and PX domains 2B ISO CTD Direct Evidence: marker/mechanism CTD PMID:28719234 NCBI chrNW_004936609:2,934,814...2,975,111
Ensembl chrNW_004936609:2,926,771...2,978,914 		JBrowse link
G Slc19a1 solute carrier family 19 member 1 ISO ClinVar Annotator: match by term: Glaucoma, primary closed-angle ClinVar PMID:12415512 PMID:19160445 PMID:19390655 PMID:20799329 PMID:21862674 More... NCBI chrNW_004936778:823,376...846,843
Ensembl chrNW_004936778:829,550...848,833 		JBrowse link
G Tfap2b transcription factor AP-2 beta ISO MouseDO NCBI chrNW_004936476:9,855,992...9,884,788
Ensembl chrNW_004936476:9,857,773...9,884,784 		JBrowse link
anterior segment dysgenesis 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pitx2 paired like homeodomain 2 ISO ClinVar Annotator: match by term: Anterior segment dysgenesis 4 | ClinVar Annotator: match by term: Iris hypoplasia with early onset glaucoma, autosomal dominant OMIM
ClinVar		 PMID:7581385 PMID:8942889 PMID:9437321 PMID:9618168 PMID:25741868 More... NCBI chrNW_004936563:1,713,294...1,732,431 JBrowse link
buphthalmos term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atl2 atlastin GTPase 2 ISO ClinVar Annotator: match by term: Congenital glaucoma ClinVar PMID:9097971 PMID:9497261 PMID:19234632 PMID:28492532 PMID:31251480 NCBI chrNW_004936663:139,448...193,231 JBrowse link
G Cpamd8 C3 and PZP like alpha-2-macroglobulin domain containing 8 ISO ClinVar Annotator: match by term: Glaucoma 3, primary congenital, A ClinVar PMID:25741868 NCBI chrNW_004936596:3,756,446...3,819,840 JBrowse link
G Hnrnpll heterogeneous nuclear ribonucleoprotein L like ISO ClinVar Annotator: match by term: Congenital glaucoma ClinVar PMID:9097971 PMID:9497261 PMID:19234632 PMID:28492532 PMID:31251480 NCBI chrNW_004936508:12,653,861...12,680,816
Ensembl chrNW_004936508:12,654,190...12,680,797 		JBrowse link
G LOC101967759 galactose mutarotase ISO ClinVar Annotator: match by term: Congenital glaucoma ClinVar PMID:9097971 PMID:9497261 PMID:19234632 PMID:28492532 PMID:31251480 NCBI chrNW_004936508:12,495,438...12,502,236 JBrowse link
G LOC101970101 cytochrome P450 1B1 susceptibility ISO ClinVar Annotator: match by term: Congenital glaucoma | ClinVar Annotator: match by term: Glaucoma 3, primary congenital, A | ClinVar Annotator: match by term: Glaucoma, primary open angle, juvenile-onset
DNA:snp:cds:p.E387K (human)
DNA:polymorphisms:multiple (human)
DNA:missense mutations:exons:p.G61E, p.R368H, p.D374N (human)
DNA:deletion, snp:exons:g.4339delG, p.G61E (human)		 OMIM
ClinVar
RGD		 PMID:2782041 PMID:9097971 PMID:9463332 PMID:9497261 PMID:9536098 More... RGD:7800657 RGD:7800670 RGD:7800680 RGD:7800689 NCBI chrNW_004936663:345,021...355,188
Ensembl chrNW_004936663:348,368...355,191 		JBrowse link
G Ltbp2 latent transforming growth factor beta binding protein 2 ISO ClinVar Annotator: match by term: Glaucoma 3, primary congenital, A ClinVar PMID:19656777 NCBI chrNW_004936488:3,682,044...3,790,988
Ensembl chrNW_004936488:3,685,334...3,791,063 		JBrowse link
G Myoc myocilin ISO ClinVar Annotator: match by term: Glaucoma 3, primary congenital, a, digenic ClinVar PMID:12447164 PMID:15025728 PMID:15723004 PMID:15733270 PMID:16288197 More... NCBI chrNW_004936481:15,544,733...15,556,813
Ensembl chrNW_004936481:15,544,660...15,556,857 		JBrowse link
G Pxdn peroxidasin ISO ClinVar Annotator: match by term: Glaucoma 3, primary congenital, A ClinVar PMID:25741868 NCBI chrNW_004936532:462,507...543,549
Ensembl chrNW_004936532:462,429...543,555 		JBrowse link
G Tyr tyrosinase ISO OMIM:231300 MouseDO NCBI chrNW_004936736:421,623...519,085
Ensembl chrNW_004936736:421,598...519,253 		JBrowse link
Cataract 50 with or without Glaucoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trpm3 transient receptor potential cation channel subfamily M member 3 ISO ClinVar Annotator: match by term: Cataract 50 with or without glaucoma ClinVar
OMIM		 PMID:25090642 NCBI chrNW_004936503:6,688,476...7,188,417
Ensembl chrNW_004936503:6,690,043...7,497,963 		JBrowse link
Charcot-Marie-Tooth disease type 4B2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sbf2 SET binding factor 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4B2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4B2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4B2 with early-onset glaucoma OMIM
ClinVar		 PMID:9521281 PMID:9536098 PMID:10932274 PMID:12554688 PMID:12687498 More... NCBI chrNW_004936528:8,080,563...8,418,703
Ensembl chrNW_004936528:8,188,654...8,417,101 		JBrowse link
exfoliation syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acvr1 activin A receptor type 1 disease_progression ISO DNA:missense mutation:SNP:rs12997 (human) RGD PMID:32641001 RGD:329845517 NCBI chrNW_004936469:20,743,195...20,811,567
Ensembl chrNW_004936469:20,743,213...20,811,569 		JBrowse link
G Agpat1 1-acylglycerol-3-phosphate O-acyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28553957 NCBI chrNW_004936727:1,425,784...1,434,921
Ensembl chrNW_004936727:1,426,857...1,434,921 		JBrowse link
G Apoe apolipoprotein E susceptibility ISO DNA:polymorphism:exon: RGD PMID:15939044 RGD:7771555 NCBI chrNW_004936706:1,512,438...1,516,805 JBrowse link
G Cav1 caveolin 1 no_association ISO DNA:SNP:promoter:rs4236601 (human) RGD PMID:20835238 RGD:8661783 NCBI chrNW_004936589:2,504,235...2,536,778
Ensembl chrNW_004936589:2,504,224...2,537,170 		JBrowse link
G Clu clusterin no_association ISO DNA:SNP:intron:rs2279590 (human)
DNA:SNPs, haplotype: :multiple		 RGD PMID:16639006 PMID:18806885 PMID:19182256 PMID:25057782 RGD:8699505 RGD:8699516 RGD:8887372 RGD:9068391 NCBI chrNW_004936675:499,745...513,515
Ensembl chrNW_004936675:499,199...513,836 		JBrowse link
G Edn1 endothelin 1 ISO associated with Cataract;protein:increased expression:aqueous humor (human) RGD PMID:15031170 RGD:8661674 NCBI chrNW_004936534:885,489...892,292
Ensembl chrNW_004936534:885,287...891,772 		JBrowse link
G Eln elastin ISO RGD PMID:7777294 RGD:9585736 NCBI chrNW_004936543:3,135,169...3,165,023 JBrowse link
G LOC101960999 voltage-dependent P/Q-type calcium channel subunit alpha-1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:25706626 NCBI chrNW_004936659:2,201,606...2,269,625
Ensembl chrNW_004936659:2,192,610...2,392,638 		JBrowse link
G Loxl1 lysyl oxidase like 1 susceptibility
no_association		 ISO ClinVar Annotator: match by term: Exfoliation syndrome, susceptibility to
DNA:CNVs		 OMIM
ClinVar
RGD		 PMID:17690259 PMID:18037624 PMID:19343041 PMID:23288989 PMID:25741868 RGD:7387333 NCBI chrNW_004936471:33,075,542...33,099,877
Ensembl chrNW_004936471:33,075,461...33,099,910 		JBrowse link
G Ltbp2 latent transforming growth factor beta binding protein 2 ISO ClinVar Annotator: match by term: Pseudoexfoliation glaucoma ClinVar PMID:23401661 PMID:25741868 PMID:28492532 NCBI chrNW_004936488:3,682,044...3,790,988
Ensembl chrNW_004936488:3,685,334...3,791,063 		JBrowse link
G Lyst lysosomal trafficking regulator ISO OMIM:177650 MouseDO NCBI chrNW_004936484:16,750,976...16,915,999
Ensembl chrNW_004936484:16,763,511...16,916,022 		JBrowse link
G Mmp1 matrix metallopeptidase 1 no_association ISO DNA:insertion:promoter:g.-1607insG rs1799750 (human) RGD PMID:20808730 RGD:8549725 NCBI chrNW_004936551:5,167,909...5,175,149
Ensembl chrNW_004936551:5,168,044...5,174,857 		JBrowse link
G Mmp9 matrix metallopeptidase 9 no_association ISO DNA:insertion: :p.Q279R (rs17576) (human) RGD PMID:20808730 RGD:8549725 NCBI chrNW_004936514:7,038,240...7,045,873
Ensembl chrNW_004936514:7,037,639...7,045,793 		JBrowse link
G Optn optineurin no_association ISO DNA:polymorphism: :p.M98K (human) RGD PMID:16020311 RGD:6480509 NCBI chrNW_004937104:73,340...113,179 JBrowse link
G Pomp proteasome maturation protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:28553957 NCBI chrNW_004936472:23,754,683...23,770,590
Ensembl chrNW_004936472:23,754,562...23,773,249 		JBrowse link
G Pon1 paraoxonase 1 ISO protein:decreased expression:serum (human) RGD PMID:19628957 RGD:8547685 NCBI chrNW_004936585:4,954,871...4,979,560
Ensembl chrNW_004936585:4,954,869...4,979,591 		JBrowse link
G Rbms3 RNA binding motif single stranded interacting protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28553957 NCBI chrNW_004936473:20,169,383...20,828,355
Ensembl chrNW_004936473:19,764,760...20,822,818 		JBrowse link
G Sod2 superoxide dismutase 2 ISO associated with glaucoma,primary open angle; mRNA:increased expression: ciliary body, iris:
associated with cataract;mRNA:increased expression:lens epithelium:		 RGD PMID:18055805 PMID:23805041 RGD:7794853 RGD:8158048 NCBI chrNW_004936489:11,178,338...11,191,601
Ensembl chrNW_004936489:11,178,015...11,191,781 		JBrowse link
G Stra6 signaling receptor and transporter of retinol STRA6 ISO mRNA:decreased expression:iris, retina (human) RGD PMID:30986821 RGD:155631292 NCBI chrNW_004936471:33,224,174...33,245,076
Ensembl chrNW_004936471:33,224,859...33,245,030 		JBrowse link
G Tlcd5 TLC domain containing 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28553957 NCBI chrNW_004936542:5,186,445...5,192,015
Ensembl chrNW_004936542:5,186,226...5,194,119 		JBrowse link
G Tlr4 toll like receptor 4 susceptibility ISO DNA:haplotype:: RGD PMID:22831837 RGD:7794768 NCBI chrNW_004936487:6,519,140...6,532,018
Ensembl chrNW_004936487:6,518,441...6,533,095 		JBrowse link
glaucoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace2 angiotensin converting enzyme 2 treatment ISO RGD PMID:23702784 RGD:9685447 NCBI chrNW_004936470:4,964,526...5,011,808
Ensembl chrNW_004936470:4,965,332...5,011,702 		JBrowse link
G Ago2 argonaute RISC catalytic component 2 exacerbates ISO RGD PMID:29392316 RGD:401900730 NCBI chrNW_004936470:10,641,109...10,690,587
Ensembl chrNW_004936470:10,628,128...10,680,106 		JBrowse link
G Anxa3 annexin A3 ISO mRNA:increased expression:retina RGD PMID:18055803 RGD:2289160 NCBI chrNW_004936676:2,153,752...2,216,498
Ensembl chrNW_004936676:2,153,689...2,216,627 		JBrowse link
G Apoa4 apolipoprotein A4 ISO Primary Congenital Glaucoma; protein:increased expression:aqueous humor (human) RGD PMID:21078314 RGD:5685641 NCBI chrNW_004936542:2,098,683...2,101,127
Ensembl chrNW_004936542:2,098,683...2,101,127 		JBrowse link
G Arhgef12 Rho guanine nucleotide exchange factor 12 ISO ClinVar Annotator: match by term: Glaucoma ClinVar PMID:25741868 NCBI chrNW_004936542:5,197,100...5,335,338
Ensembl chrNW_004936542:5,262,217...5,331,426 		JBrowse link
G Atf2 activating transcription factor 2 ISO RGD PMID:17586494 RGD:10047416 NCBI chrNW_004936509:4,729,984...4,826,367
Ensembl chrNW_004936509:4,732,930...4,826,443 		JBrowse link
G Bad BCL2 associated agonist of cell death ISO protein:decreased serine phosphorylation:retina RGD PMID:16103353 RGD:2292690 NCBI chrNW_004936599:4,924,349...4,933,683
Ensembl chrNW_004936599:4,924,789...4,933,368 		JBrowse link
G Bax BCL2 associated X, apoptosis regulator ISO mRNA:increased expression:optic nerve, retina RGD PMID:24357921 RGD:10054098 NCBI chrNW_004936664:2,968,103...2,973,652
Ensembl chrNW_004936664:2,967,865...2,973,820 		JBrowse link
G Bcl2 BCL2 apoptosis regulator ISO mRNA:decreased expression:optic nerve, retina RGD PMID:24357921 RGD:10054098 NCBI chrNW_004936497:2,209,136...2,373,580
Ensembl chrNW_004936497:2,210,334...2,210,921 		JBrowse link
G Bdnf brain derived neurotrophic factor treatment ISO protein:decreased expression:eye: RGD PMID:10711692 PMID:19422885 PMID:21498611 RGD:8655601 RGD:8655608 RGD:8655886 NCBI chrNW_004936540:5,530,081...5,582,765
Ensembl chrNW_004936540:5,529,942...5,585,014 		JBrowse link
G Becn1 beclin 1 ISO protein:increased expression:eye RGD PMID:22476098 RGD:6483048 NCBI chrNW_004936490:17,518,100...17,531,126
Ensembl chrNW_004936490:17,517,751...17,531,151 		JBrowse link
G Bex3 brain expressed X-linked 3 ISO mRNA:decreased expression:retina RGD PMID:19682984 RGD:9743977 NCBI chrNW_004936547:7,842,016...7,843,087 JBrowse link
G Ccnd2 cyclin D2 ISO mRNA:increased expression:retina RGD PMID:18055803 RGD:2289160 NCBI chrNW_004936606:4,474,801...4,496,158
Ensembl chrNW_004936606:4,474,749...4,496,810 		JBrowse link
G Cdkn1b cyclin dependent kinase inhibitor 1B ISO mRNA, protein:decreased expression:retina, Muller cell RGD PMID:16707124 RGD:2293623 NCBI chrNW_004936587:4,573,166...4,578,480
Ensembl chrNW_004936587:4,572,728...4,578,461 		JBrowse link
G Cdkn2b cyclin dependent kinase inhibitor 2B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21532571 NCBI chrNW_004936652:3,576,975...3,582,790
Ensembl chrNW_004936652:3,538,986...3,581,159 		JBrowse link
G Cntf ciliary neurotrophic factor ameliorates ISO RGD PMID:14725620 PMID:19060281 RGD:1626115 RGD:8655853 NCBI chrNW_004936581:3,710,171...3,715,753
Ensembl chrNW_004936581:3,710,160...3,715,638 		JBrowse link
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Glaucoma ClinVar PMID:25741868 NCBI chrNW_004936694:552,447...663,237
Ensembl chrNW_004936694:553,753...663,617 		JBrowse link
G Cx3cr1 C-X3-C motif chemokine receptor 1 ISO RGD PMID:24989686 RGD:9384823 NCBI chrNW_004936473:28,508,726...28,535,640
Ensembl chrNW_004936473:28,510,523...28,535,627 		JBrowse link
G Eef2 eukaryotic translation elongation factor 2 ISO associated with Exfoliation Syndrome; RGD PMID:20107165 RGD:10401222 NCBI chrNW_004936588:2,259,236...2,267,692
Ensembl chrNW_004936588:2,258,309...2,266,609 		JBrowse link
G Epo erythropoietin ISO protein:increased expression:retina: RGD PMID:17554621 PMID:19741249 RGD:10401071 RGD:11041649 NCBI chrNW_004936543:742,722...745,332
Ensembl chrNW_004936543:743,537...745,343 		JBrowse link
G Epor erythropoietin receptor ISO protein:increased expression:retina: RGD PMID:17554621 RGD:11041649 NCBI chrNW_004936659:1,468,391...1,473,880
Ensembl chrNW_004936659:1,468,634...1,473,880 		JBrowse link
G Fas Fas cell surface death receptor ISO protein:increased expression:optic nerve head, axon (human) RGD PMID:19043361 RGD:8662440 NCBI chrNW_004936735:209,369...234,582 JBrowse link
G Foxd3 forkhead box D3 ISO mRNA:increased expression:optic nerve head (human) RGD PMID:28990066 RGD:155630605 NCBI chrNW_004936692:951,394...953,612
Ensembl chrNW_004936692:951,562...953,001 		JBrowse link
G Gem GTP binding protein overexpressed in skeletal muscle ISO mRNA:decreased expression:optic nerve head (rat) RGD PMID:28990066 RGD:155630605 NCBI chrNW_004936544:7,262,629...7,275,860
Ensembl chrNW_004936544:7,262,629...7,275,910 		JBrowse link
G Hdac1 histone deacetylase 1 ISO mRNA:increased expression:optic nerve head (human)
mRNA:increased expression:optic nerve head (rat)		 RGD PMID:28990066 RGD:155630605 NCBI chrNW_004936474:15,320,635...15,351,418
Ensembl chrNW_004936474:15,320,729...15,350,860 		JBrowse link
G Heph hephaestin ISO mRNA:increased expression:optic nerve head (human) RGD PMID:28990066 RGD:155630605 NCBI chrNW_004936635:1,954,771...2,022,061
Ensembl chrNW_004936635:1,954,947...2,022,101 		JBrowse link
G Hnf4a hepatocyte nuclear factor 4 alpha ISO mRNA:increased expression:optic nerve head (human) RGD PMID:28990066 RGD:155630605 NCBI chrNW_004936530:2,401,053...2,425,989
Ensembl chrNW_004936530:2,401,043...2,454,466 		JBrowse link
G Id1 inhibitor of DNA binding 1, HLH protein ISO mRNA:increased expression:optic nerve head (human) RGD PMID:28990066 RGD:155630605 NCBI chrNW_004936485:18,610,721...18,611,889
Ensembl chrNW_004936485:18,610,665...18,612,059 		JBrowse link
G Jun Jun proto-oncogene, AP-1 transcription factor subunit ISO mRNA:increased expression:optic nerve head (human) RGD PMID:28990066 RGD:155630605 NCBI chrNW_004936522:3,034,364...3,037,632
Ensembl chrNW_004936522:3,035,346...3,036,350 		JBrowse link
G Lgr4 leucine rich repeat containing G protein-coupled receptor 4 ISO MouseDO NCBI chrNW_004936540:5,752,319...5,846,074
Ensembl chrNW_004936540:5,752,197...5,845,159 		JBrowse link
G Lingo1 leucine rich repeat and Ig domain containing 1 treatment ISO RGD PMID:19422885 RGD:8655601 NCBI chrNW_004936471:34,657,073...34,729,662
Ensembl chrNW_004936471:34,706,198...34,731,037 		JBrowse link
G Ltbp2 latent transforming growth factor beta binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19361779 PMID:27149523 NCBI chrNW_004936488:3,682,044...3,790,988
Ensembl chrNW_004936488:3,685,334...3,791,063 		JBrowse link
G Map1lc3a microtubule associated protein 1 light chain 3 alpha ISO protein:increased expression:optic nerve RGD PMID:24136224 RGD:13782046 NCBI chrNW_004936561:6,104,748...6,106,348
Ensembl chrNW_004936561:6,104,742...6,106,699 		JBrowse link
G Mettl23 methyltransferase 23, arginine ISO MouseDO NCBI chrNW_004936594:1,771,141...1,775,593
Ensembl chrNW_004936594:1,773,719...1,774,995 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO RGD PMID:16185954 RGD:8547817 NCBI chrNW_004936514:7,038,240...7,045,873
Ensembl chrNW_004936514:7,037,639...7,045,793 		JBrowse link
G Muc5ac mucin 5AC, oligomeric mucus/gel-forming ISO protein:increased expression:conjunctival epithelial cell RGD PMID:16809382 RGD:7364743 NCBI chrNW_004936816:129,926...159,396 JBrowse link
G Mylk myosin light chain kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20375339 NCBI chrNW_004936725:1,418,930...1,594,697
Ensembl chrNW_004936725:1,424,130...1,592,840 		JBrowse link
G Myoc myocilin ISO ClinVar Annotator: match by term: Glaucoma ClinVar PMID:9535666 PMID:9772276 PMID:9804137 PMID:10196380 PMID:10330365 More... NCBI chrNW_004936481:15,544,733...15,556,813
Ensembl chrNW_004936481:15,544,660...15,556,857 		JBrowse link
G Nefh neurofilament heavy chain ISO protein:decreased expression:optic nerve: RGD PMID:28498493 RGD:27226819 NCBI chrNW_004936657:3,443,406...3,453,096
Ensembl chrNW_004936657:3,443,485...3,453,133 		JBrowse link
G Ngf nerve growth factor ISO protein:decreased expression:cerebrospinal fluid RGD PMID:18938194 RGD:2303806 NCBI chrNW_004936627:635,784...641,290
Ensembl chrNW_004936627:635,788...645,364 		JBrowse link
G Ngfr nerve growth factor receptor ISO RGD PMID:20943663 RGD:5508695 NCBI chrNW_004936490:12,038,500...12,057,257
Ensembl chrNW_004936490:12,035,769...12,057,263 		JBrowse link
G Nmnat3 nicotinamide nucleotide adenylyltransferase 3 treatment ISO RGD PMID:24136224 RGD:13782046 NCBI chrNW_004936540:1,653,243...1,766,244
Ensembl chrNW_004936540:1,636,380...1,766,306 		JBrowse link
G Ntrk1 neurotrophic receptor tyrosine kinase 1 ISO mRNA,protein:decreased expression:eye RGD PMID:18817846 PMID:20943663 RGD:5508695 RGD:5684379 NCBI chrNW_004936580:6,002,168...6,021,690
Ensembl chrNW_004936580:6,002,120...6,021,709 		JBrowse link
G Ntrk2 neurotrophic receptor tyrosine kinase 2 ISO protein:increased expression:eye: RGD PMID:10711692 PMID:20357199 RGD:5684908 RGD:8655608 NCBI chrNW_004936680:267,850...621,467
Ensembl chrNW_004936680:267,596...615,928 		JBrowse link
G Opa1 OPA1 mitochondrial dynamin like GTPase treatment ISO RGD PMID:18936150 PMID:20664796 RGD:7800698 RGD:7800720 NCBI chrNW_004936711:1,027,531...1,113,796
Ensembl chrNW_004936711:1,032,935...1,106,847 		JBrowse link
G Optn optineurin susceptibility ISO DNA:SNP:intron: RGD PMID:16148883 RGD:7771548 NCBI chrNW_004937104:73,340...113,179 JBrowse link
G Pbx1 PBX homeobox 1 ISO mRNA:increased expression:optic nerve head (human)
mRNA:increased expression:optic nerve head (rat)		 RGD PMID:28990066 RGD:155630605 NCBI chrNW_004936481:20,200,236...20,440,623
Ensembl chrNW_004936481:20,203,405...20,440,629 		JBrowse link
G Pitx2 paired like homeodomain 2 ISO MouseDO NCBI chrNW_004936563:1,713,294...1,732,431 JBrowse link
G Ptgs1 prostaglandin-endoperoxide synthase 1 ISO protein:increased expression:microglia RGD PMID:11391707 RGD:5688244 NCBI chrNW_004936487:10,745,465...10,758,812
Ensembl chrNW_004936487:10,745,327...10,758,823 		JBrowse link
G Ptpn11 protein tyrosine phosphatase non-receptor type 11 treatment ISO protein:increased expression,increased phosphorylation:retina
protein:increased phosphorylation:retina		 RGD PMID:30341011 RGD:39456090 NCBI chrNW_004936668:2,602,261...2,687,903
Ensembl chrNW_004936668:2,628,706...2,682,448 		JBrowse link
G Rftn1 raftlin, lipid raft linker 1 ISO mRNA:increased expression:optic nerve head (human)
mRNA:increased expression:optic nerve head (rat)		 RGD PMID:28990066 RGD:155630605 NCBI chrNW_004936473:9,119,234...9,317,696
Ensembl chrNW_004936473:9,117,247...9,317,704 		JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Glaucoma ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936801:1,185,615...1,298,416
Ensembl chrNW_004936801:1,185,733...1,298,289 		JBrowse link
G Selenbp1 selenium binding protein 1 ISO mRNA:increased expression:optic nerve head (human) RGD PMID:28990066 RGD:155630605 NCBI chrNW_004936580:1,573,208...1,584,266
Ensembl chrNW_004936580:1,573,150...1,581,921 		JBrowse link
G Serpine1 serpin family E member 1 ISO protein:increased expression:aqueous humor (human) RGD PMID:15710819 RGD:8547695 NCBI chrNW_004936543:1,032,543...1,040,956
Ensembl chrNW_004936543:1,032,794...1,039,123 		JBrowse link
G Sh3pxd2b SH3 and PX domains 2B ISO MouseDO NCBI chrNW_004936609:2,934,814...2,975,111
Ensembl chrNW_004936609:2,926,771...2,978,914 		JBrowse link
G Slc4a4 solute carrier family 4 member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18614622 NCBI chrNW_004936598:3,391,587...3,713,629
Ensembl chrNW_004936598:3,391,575...3,713,635 		JBrowse link
G Sncg synuclein gamma ISO mRNA, protein:decreased expression:optic nerve RGD PMID:11933054 PMID:18728752 RGD:6218971 RGD:6480100 NCBI chrNW_004936804:16,869...21,684
Ensembl chrNW_004936804:16,614...21,969 		JBrowse link
G Sqstm1 sequestosome 1 ISO protein:increased expression:optic nerve RGD PMID:24136224 RGD:13782046 NCBI chrNW_004936739:943,080...955,296
Ensembl chrNW_004936739:938,745...955,263 		JBrowse link
G Tdrd7 tudor domain containing 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21436445 NCBI chrNW_004936524:6,268,640...6,323,059
Ensembl chrNW_004936524:6,249,016...6,322,815 		JBrowse link
G Tgfb2 transforming growth factor beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20375339 NCBI chrNW_004936628:310,720...394,002
Ensembl chrNW_004936628:308,691...394,007 		JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:retina RGD PMID:17151265 PMID:20574020 PMID:22802951 RGD:7394760 RGD:7394770 RGD:7394785 NCBI chrNW_004936727:1,936,066...1,937,766
Ensembl chrNW_004936727:1,936,066...1,937,766 		JBrowse link
G Txn thioredoxin ISO protein:decreased expression:retinal ganglion cell RGD PMID:18701913 RGD:2306193 NCBI chrNW_004936559:2,811,786...2,822,528
Ensembl chrNW_004936559:2,811,782...2,822,528 		JBrowse link
G Txnip thioredoxin interacting protein ISO protein:increased expression:retinal ganglion cell RGD PMID:18701913 RGD:2306193 NCBI chrNW_004936867:722,544...726,595
Ensembl chrNW_004936867:722,514...726,617 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO protein:increased expression:retina: RGD PMID:18728749 PMID:23416159 RGD:7421595 RGD:7421614 NCBI chrNW_004936476:16,245,134...16,261,180
Ensembl chrNW_004936476:16,247,100...16,260,673 		JBrowse link
G Wdr36 WD repeat domain 36 susceptibility ISO DNA:polymorphisms:cds:p.I264V,c.1965-30A>G(human)
DNA:haplotype::rs13153937, rs10038177, rs11241095 (human)
DNA:polymorphism:exon:rs10038177(human)		 RGD PMID:17960130 PMID:19347049 PMID:22025897 RGD:8548460 RGD:8548461 RGD:8548462 NCBI chrNW_004936531:5,513,082...5,546,515
Ensembl chrNW_004936531:5,513,082...5,548,501 		JBrowse link
G Zeb1 zinc finger E-box binding homeobox 1 ISO ClinVar Annotator: match by term: Glaucoma ClinVar PMID:25741868 NCBI chrNW_004936574:17,643...175,762
Ensembl chrNW_004936574:17,684...178,293 		JBrowse link
Glaucoma 1, Open Angle, B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fastkd1 FAST kinase domains 1 ISO ClinVar Annotator: match by term: Glaucoma 1, open angle, B ClinVar NCBI chrNW_004936509:65,090...101,687
Ensembl chrNW_004936509:61,811...101,679 		JBrowse link
Glaucoma 1, Open Angle, E term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myoc myocilin ISO ClinVar Annotator: match by term: Glaucoma 1, open angle, E ClinVar PMID:9535666 PMID:9804137 PMID:10545602 PMID:10798654 PMID:10980537 More... NCBI chrNW_004936481:15,544,733...15,556,813
Ensembl chrNW_004936481:15,544,660...15,556,857 		JBrowse link
G Optn optineurin ISO ClinVar Annotator: match by term: Glaucoma 1, open angle, E | ClinVar Annotator: match by term: Glaucoma 1, open angle, e ClinVar PMID:11834836 PMID:11978762 PMID:12208142 PMID:12939304 PMID:14597044 More... NCBI chrNW_004937104:73,340...113,179 JBrowse link
Glaucoma 1, Open Angle, F term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asb10 ankyrin repeat and SOCS box containing 10 ISO ClinVar Annotator: match by term: Glaucoma 1, open angle, F OMIM
ClinVar		 PMID:10037570 PMID:22156576 PMID:25741868 PMID:28492532 NCBI chrNW_004936527:6,589,105...6,598,591
Ensembl chrNW_004936527:6,589,021...6,598,591 		JBrowse link
Glaucoma 1, Open Angle, G term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wdr36 WD repeat domain 36 ISO ClinVar Annotator: match by term: Glaucoma 1, open angle, G | ClinVar Annotator: match by term: WDR36-related condition OMIM
ClinVar		 PMID:15677485 PMID:16723468 PMID:17353431 PMID:17563723 PMID:18172102 More... NCBI chrNW_004936531:5,513,082...5,546,515
Ensembl chrNW_004936531:5,513,082...5,548,501 		JBrowse link
Glaucoma 1, Open Angle, H term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Efemp1 EGF containing fibulin extracellular matrix protein 1 ISO ClinVar Annotator: match by term: Glaucoma 1, open angle, H OMIM
ClinVar		 PMID:25741868 PMID:26162006 PMID:28492532 PMID:34923728 NCBI chrNW_004936491:2,159,654...2,214,480
Ensembl chrNW_004936491:2,159,096...2,214,677 		JBrowse link
Glaucoma 1, Open Angle, O term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ntf4 neurotrophin 4 ISO ClinVar Annotator: match by term: Glaucoma 1, open angle, O OMIM
ClinVar		 PMID:19765683 PMID:20215012 PMID:20463313 PMID:25741868 PMID:27535533 NCBI chrNW_004936664:3,017,108...3,017,955 JBrowse link
Glaucoma 1, Open Angle, P term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbk1 TANK binding kinase 1 ISO ClinVar Annotator: match by term: Glaucoma 1, open angle, P ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004936545:2,763,755...2,809,229
Ensembl chrNW_004936545:2,763,596...2,809,709 		JBrowse link
Glaucoma 3, Primary Infantile, B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101970101 cytochrome P450 1B1 ISO ClinVar Annotator: match by term: Primary congenital glaucoma type 3B ClinVar PMID:9097971 PMID:9463332 PMID:9497261 PMID:10227395 PMID:10426814 More... NCBI chrNW_004936663:345,021...355,188
Ensembl chrNW_004936663:348,368...355,191 		JBrowse link
G Ltbp2 latent transforming growth factor beta binding protein 2 ISO ClinVar Annotator: match by term: Glaucoma 3, primary infantile, B ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:19361779 PMID:22025892 More... NCBI chrNW_004936488:3,682,044...3,790,988
Ensembl chrNW_004936488:3,685,334...3,791,063 		JBrowse link
G Tek TEK receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936611:2,420,176...2,531,726
Ensembl chrNW_004936611:2,420,172...2,531,722 		JBrowse link
hydrophthalmos term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flt1 fms related receptor tyrosine kinase 1 ISO RGD PMID:22426483 RGD:8549773 NCBI chrNW_004936472:23,442,946...23,617,523
Ensembl chrNW_004936472:23,440,088...23,617,041 		JBrowse link
G Kdr kinase insert domain receptor ISO RGD PMID:22426483 RGD:8549773 NCBI chrNW_004936482:17,537,697...17,581,320
Ensembl chrNW_004936482:17,538,864...17,581,002 		JBrowse link
G LOC101970101 cytochrome P450 1B1 ISO DNA:insertion, deletions:exons, intron:g.1209_1214insC, g.1410_1422del, g.1389-?-1422+?del (human) RGD PMID:9097971 RGD:1599716 NCBI chrNW_004936663:345,021...355,188
Ensembl chrNW_004936663:348,368...355,191 		JBrowse link
juvenile glaucoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Efemp1 EGF containing fibulin extracellular matrix protein 1 ISO ClinVar Annotator: match by term: Glaucoma of childhood ClinVar PMID:28492532 PMID:34923728 NCBI chrNW_004936491:2,159,654...2,214,480
Ensembl chrNW_004936491:2,159,096...2,214,677 		JBrowse link
G LOC101970101 cytochrome P450 1B1 ISO ClinVar Annotator: match by term: Glaucoma of childhood ClinVar PMID:9497261 PMID:10227395 PMID:15342693 PMID:16735994 PMID:18227148 More... NCBI chrNW_004936663:345,021...355,188
Ensembl chrNW_004936663:348,368...355,191 		JBrowse link
G Ltbp2 latent transforming growth factor beta binding protein 2 ISO ClinVar Annotator: match by term: Glaucoma of childhood ClinVar PMID:19361779 PMID:19656777 PMID:22025892 PMID:24033266 PMID:28492532 NCBI chrNW_004936488:3,682,044...3,790,988
Ensembl chrNW_004936488:3,685,334...3,791,063 		JBrowse link
G Myoc myocilin susceptibility ISO ClinVar Annotator: match by term: Glaucoma 1, open angle, A | ClinVar Annotator: match by term: Glaucoma of childhood | ClinVar Annotator: match by term: MYOC-Related Disorders | ClinVar Annotator: match by term: Primary open angle glaucoma juvenile onset 1
DNA:nonsense mutation, missense mutation, snps:exon, intron, 3' utr:multiple (human)		 OMIM
ClinVar
RGD		 PMID:3756132 PMID:6770678 PMID:8513321 PMID:9005853 PMID:9328473 More... RGD:7401192 NCBI chrNW_004936481:15,544,733...15,556,813
Ensembl chrNW_004936481:15,544,660...15,556,857 		JBrowse link
G Pax6 paired box 6 ISO MouseDO NCBI chrNW_004936533:5,952,529...5,980,889
Ensembl chrNW_004936533:5,957,971...5,982,075 		JBrowse link
low tension glaucoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adrb1 adrenoceptor beta 1 susceptibility ISO DNA:polymorphism:cds:p.R389G(human) RGD PMID:16785856 RGD:8548468 NCBI chrNW_004936486:4,400,467...4,401,588
Ensembl chrNW_004936486:4,399,915...4,403,149 		JBrowse link
G Apoe apolipoprotein E susceptibility ISO DNA:polymorphism:exon: RGD PMID:16778644 RGD:7495800 NCBI chrNW_004936706:1,512,438...1,516,805 JBrowse link
G Bdnf brain derived neurotrophic factor ISO protein:increased expression:tear: RGD PMID:19861219 RGD:8655604 NCBI chrNW_004936540:5,530,081...5,582,765
Ensembl chrNW_004936540:5,529,942...5,585,014 		JBrowse link
G Cav1 caveolin 1 no_association ISO DNA:SNP:promoter:rs4236601 (human) RGD PMID:23743525 RGD:8661774 NCBI chrNW_004936589:2,504,235...2,536,778
Ensembl chrNW_004936589:2,504,224...2,537,170 		JBrowse link
G Cav2 caveolin 2 susceptibility ISO DNA:SNP: :rs1052990 (human) RGD PMID:23743525 RGD:8661774 NCBI chrNW_004936589:2,553,932...2,561,186
Ensembl chrNW_004936589:2,552,477...2,561,569 		JBrowse link
G Crp C-reactive protein no_association ISO protein:increased expression:plasma: RGD PMID:16148587 PMID:22966842 RGD:9491770 RGD:9491771 NCBI chrNW_004936740:885,855...888,854
Ensembl chrNW_004936740:883,272...890,606 		JBrowse link
G Edn1 endothelin 1 ISO protein:increased expression:plasma (human) RGD PMID:21946544 RGD:8661736 NCBI chrNW_004936534:885,489...892,292
Ensembl chrNW_004936534:885,287...891,772 		JBrowse link
G Hspd1 heat shock protein family D (Hsp60) member 1 ISO RGD PMID:20858111 RGD:10402863 NCBI chrNW_004936506:1,678,069...1,687,632 JBrowse link
G LOC101956249 optineurin ISO MouseDO NCBI chrNW_004936862:488,591...516,819 JBrowse link
G Myoc myocilin susceptibility ISO DNA:Haplotype: : RGD PMID:16148883 RGD:7771548 NCBI chrNW_004936481:15,544,733...15,556,813
Ensembl chrNW_004936481:15,544,660...15,556,857 		JBrowse link
G Optn optineurin susceptibility ISO DNA:polymorphisms, haplotype:exons:c.412G>A,603T>A(human)
DNA:polymorphism:exon:p.M98K(human)
DNA:SNPs:exon,introns:		 RGD PMID:15226658 PMID:15557444 PMID:16148883 RGD:7771548 RGD:7775041 RGD:7775043 NCBI chrNW_004937104:73,340...113,179 JBrowse link
G Slc1a1 solute carrier family 1 member 1 ISO CTD Direct Evidence: marker/mechanism
OMIM:606657		 CTD
MouseDO		 PMID:28703795 NCBI chrNW_004936503:613,250...690,555
Ensembl chrNW_004936503:613,223...690,721 		JBrowse link
G Slc1a3 solute carrier family 1 member 3 ISO OMIM:606657 MouseDO NCBI chrNW_004936518:5,216,343...5,291,107
Ensembl chrNW_004936518:5,215,290...5,291,058 		JBrowse link
G Sod1 superoxide dismutase 1 ISO protein:decreased expression:serum (human)
OMIM:606657		 RGD
MouseDO		 PMID:21421868 RGD:8655579 NCBI chrNW_004936500:10,345,154...10,352,873
Ensembl chrNW_004936500:10,345,154...10,352,867 		JBrowse link
G Tlr4 toll like receptor 4 no_association
susceptibility		 ISO DNA:polymorphisms:multiple:
DNA:polymorphism,haplotype:multiple:		 RGD PMID:21921986 PMID:22831837 RGD:7794768 RGD:7794769 NCBI chrNW_004936487:6,519,140...6,532,018
Ensembl chrNW_004936487:6,518,441...6,533,095 		JBrowse link
G Tnf tumor necrosis factor ISO DNA:polymorphism, haplotype:promoter: -863C>A (human) RGD PMID:15557444 RGD:7775041 NCBI chrNW_004936727:1,936,066...1,937,766
Ensembl chrNW_004936727:1,936,066...1,937,766 		JBrowse link
G Tp53 tumor protein p53 susceptibility ISO DNA:polymorphism:cds:p.R72P(rs1042522)(human) RGD PMID:20357201 RGD:7387247 NCBI chrNW_004936595:919,807...935,367
Ensembl chrNW_004936595:919,428...925,425 		JBrowse link
Microspherophakia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ltbp2 latent transforming growth factor beta binding protein 2 ISO ClinVar Annotator: match by term: Microspherophakia ClinVar PMID:19361779 PMID:19656777 PMID:20179738 PMID:20617341 PMID:21081970 More... NCBI chrNW_004936488:3,682,044...3,790,988
Ensembl chrNW_004936488:3,685,334...3,791,063 		JBrowse link
Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or without Secondary Glaucoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ltbp2 latent transforming growth factor beta binding protein 2 ISO ClinVar Annotator: match by term: Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma OMIM
ClinVar		 PMID:19361779 PMID:19656777 PMID:20179738 PMID:21081970 PMID:22025892 More... NCBI chrNW_004936488:3,682,044...3,790,988
Ensembl chrNW_004936488:3,685,334...3,791,063 		JBrowse link
Nanophthalmos 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myrf myelin regulatory factor ISO ClinVar Annotator: match by term: Nanophthalmos 1 ClinVar NCBI chrNW_004936581:1,335,969...1,367,104
Ensembl chrNW_004936581:1,338,762...1,367,104 		JBrowse link
neovascular glaucoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Edn1 endothelin 1 ISO protein:increased expression:aqueous humor (human) RGD PMID:20373895 RGD:8661689 NCBI chrNW_004936534:885,489...892,292
Ensembl chrNW_004936534:885,287...891,772 		JBrowse link
G Il6 interleukin 6 disease_progression ISO associated with Retinal Vein Occlusion;protein:increased expression:aqueous humor: RGD PMID:10509659 RGD:7829814 NCBI chrNW_004936549:7,015,595...7,016,246 JBrowse link
G Vegfa vascular endothelial growth factor A ISO associated with Diabetes Mellitus, type 2; protein:increased expression:aqueous humor of eyeball: RGD PMID:9852717 RGD:8547996 NCBI chrNW_004936476:16,245,134...16,261,180
Ensembl chrNW_004936476:16,247,100...16,260,673 		JBrowse link
Normal Tension Glaucoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Opa1 OPA1 mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: GLAUCOMA, NORMAL PRESSURE, SUSCEPTIBILITY TO ClinVar
OMIM		 PMID:9490303 PMID:9917792 PMID:11017079 PMID:11440988 PMID:11440989 More... NCBI chrNW_004936711:1,027,531...1,113,796
Ensembl chrNW_004936711:1,032,935...1,106,847 		JBrowse link
G Optn optineurin ISO ClinVar Annotator: match by term: Glaucoma, normal tension, susceptibility to ClinVar
OMIM		 PMID:11834836 PMID:11978762 PMID:12208142 PMID:15761120 PMID:16619239 More... NCBI chrNW_004937104:73,340...113,179 JBrowse link
open-angle glaucoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adrb2 adrenoceptor beta 2 severity ISO DNA:polymprphism:cds:p.Q27E(human) RGD PMID:16785856 RGD:8548468 NCBI chrNW_004936504:5,985,407...5,987,453
Ensembl chrNW_004936504:5,985,960...5,987,210 		JBrowse link
G Afap1 actin filament associated protein 1 susceptibility ISO DNA:SNPs: :rs4619890,rs4478172(human) RGD PMID:25173105 RGD:13673886 NCBI chrNW_004936477:19,288,075...19,418,543
Ensembl chrNW_004936477:19,287,856...19,418,568 		JBrowse link
G Apoc3 apolipoprotein C3 ISO protein:increased expression: aqueous humor: RGD PMID:23860758 RGD:10054092 NCBI chrNW_004936542:2,106,927...2,108,412
Ensembl chrNW_004936542:2,106,318...2,108,603 		JBrowse link
G Apoe apolipoprotein E susceptibility ISO RGD PMID:16110302 RGD:7495786 NCBI chrNW_004936706:1,512,438...1,516,805 JBrowse link
G Atxn2 ataxin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26752265 NCBI chrNW_004936558:4,127,477...4,188,307
Ensembl chrNW_004936558:4,127,477...4,232,393 		JBrowse link
G Cav1 caveolin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20835238 NCBI chrNW_004936589:2,504,235...2,536,778
Ensembl chrNW_004936589:2,504,224...2,537,170 		JBrowse link
G Cav2 caveolin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20835238 NCBI chrNW_004936589:2,553,932...2,561,186
Ensembl chrNW_004936589:2,552,477...2,561,569 		JBrowse link
G Cdkn2b cyclin dependent kinase inhibitor 2B disease_progression ISO DNA:SNP: :rs1063192 (human) RGD PMID:22840486 RGD:8548689 NCBI chrNW_004936652:3,576,975...3,582,790
Ensembl chrNW_004936652:3,538,986...3,581,159 		JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO RGD PMID:15161848 RGD:8552673 NCBI chrNW_004936490:11,448,552...11,465,836
Ensembl chrNW_004936490:11,448,654...11,464,444 		JBrowse link
G Fndc3b fibronectin type III domain containing 3B ISO CTD Direct Evidence: marker/mechanism CTD PMID:23291589 NCBI chrNW_004936593:311,245...638,625
Ensembl chrNW_004936593:311,245...566,800 		JBrowse link
G Gmds GDP-mannose 4,6-dehydratase susceptibility ISO DNA:SNPs: :rs11969985,rs2761233(human) RGD PMID:25173105 RGD:13673886 NCBI chrNW_004936633:2,752,677...3,367,408
Ensembl chrNW_004936633:2,752,443...3,367,443 		JBrowse link
G Il10 interleukin 10 ISO RGD PMID:23788371 RGD:7364852 NCBI chrNW_004936557:5,834,874...5,838,502
Ensembl chrNW_004936557:5,834,874...5,838,502 		JBrowse link
G Il2 interleukin 2 ISO protein:decreased expression:aqueous humor RGD PMID:21834929 RGD:5147910 NCBI chrNW_004936662:1,594,953...1,599,625
Ensembl chrNW_004936662:1,594,953...1,599,625 		JBrowse link
G Meis2 Meis homeobox 2 susceptibility ISO DNA:SNP::rs28480457(human) RGD PMID:29452408 RGD:155630591 NCBI chrNW_004936471:800,510...1,006,054
Ensembl chrNW_004936471:798,739...1,006,047 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase no_association
susceptibility		 ISO DNA:SNPs: : 677C>T, 1298A>C (human)
DNA:SNP: :677C>T(human)		 RGD PMID:15808177 PMID:17558844 RGD:7387252 RGD:7387254 NCBI chrNW_004936474:623,438...637,849
Ensembl chrNW_004936474:623,291...638,193 		JBrowse link
G Myoc myocilin ISO ClinVar Annotator: match by term: Open-angle glaucoma ClinVar PMID:9535666 PMID:9772276 PMID:10196380 PMID:11004290 PMID:11133859 More... NCBI chrNW_004936481:15,544,733...15,556,813
Ensembl chrNW_004936481:15,544,660...15,556,857 		JBrowse link
G Optn optineurin no_association ISO DNA:polymorphism: :p.M98K (human)
CTD Direct Evidence: marker/mechanism
DNA:missense mutations, SNP: :multiple		 RGD
CTD		 PMID:11834836 PMID:14627677 PMID:16020311 PMID:19096531 PMID:21059646 More... RGD:1600995 RGD:6480509 RGD:6480510 RGD:6480513 NCBI chrNW_004937104:73,340...113,179 JBrowse link
G Pon1 paraoxonase 1 ISO DNA:missense mutations:cds:p.L55M, p.Q192R (human) RGD PMID:16411107 RGD:8547552 NCBI chrNW_004936585:4,954,871...4,979,560
Ensembl chrNW_004936585:4,954,869...4,979,591 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16330497 NCBI chrNW_004936481:3,821,564...3,828,086 JBrowse link
G Tap1 transporter 1, ATP binding cassette subfamily B member susceptibility ISO DNA:SNPs: :p. I333V, D637G (human) RGD PMID:15887980 RGD:6482266 NCBI chrNW_004936476:25,899,514...25,907,690
Ensembl chrNW_004936476:25,899,339...25,907,695 		JBrowse link
G Tmco1 transmembrane and coiled-coil domains 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21532571 NCBI chrNW_004936481:19,586,870...19,609,043
Ensembl chrNW_004936481:19,586,870...19,611,933 		JBrowse link
G Tnf tumor necrosis factor susceptibility ISO DNA:SNP: :-308G>A(rs1800629)(human) RGD PMID:20357201 RGD:7387247 NCBI chrNW_004936727:1,936,066...1,937,766
Ensembl chrNW_004936727:1,936,066...1,937,766 		JBrowse link
G Txnrd2 thioredoxin reductase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26752265 NCBI chrNW_004936619:3,789,940...3,847,286
Ensembl chrNW_004936619:3,791,418...3,847,626 		JBrowse link
G Wdr36 WD repeat domain 36 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21059646 NCBI chrNW_004936531:5,513,082...5,546,515
Ensembl chrNW_004936531:5,513,082...5,548,501 		JBrowse link
pigment dispersion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col18a1 collagen type XVIII alpha 1 chain ISO OMIM:600510 MouseDO NCBI chrNW_004936778:847,473...943,038 JBrowse link
G Gpnmb glycoprotein nmb ISO OMIM:600510 MouseDO NCBI chrNW_004936478:397,200...425,663
Ensembl chrNW_004936478:397,145...424,801 		JBrowse link
primary angle-closure glaucoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acvr1 activin A receptor type 1 sexual_dimorphism ISO DNA:missense mutation:SNP:rs12997 (human) RGD PMID:32641001 RGD:329845517 NCBI chrNW_004936469:20,743,195...20,811,567
Ensembl chrNW_004936469:20,743,213...20,811,569 		JBrowse link
G Anapc2 anaphase promoting complex subunit 2 ISO protein:increased expression:aqueous humor of eyeball (human) RGD PMID:29332228 RGD:14696671 NCBI chrNW_004936669:797,475...808,952
Ensembl chrNW_004936669:797,318...811,721 		JBrowse link
G Col18a1 collagen type XVIII alpha 1 chain ISO OMIM NCBI chrNW_004936778:847,473...943,038 JBrowse link
G Myrf myelin regulatory factor ISO DNA:mutations:multiple: RGD PMID:36129575 RGD:199225554 NCBI chrNW_004936581:1,335,969...1,367,104
Ensembl chrNW_004936581:1,338,762...1,367,104 		JBrowse link
primary congenital glaucoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101970101 cytochrome P450 1B1 ISO ClinVar Annotator: match by term: Primary congenital glaucoma ClinVar PMID:9463332 PMID:9497261 PMID:10227395 PMID:10655546 PMID:11184479 More... NCBI chrNW_004936663:345,021...355,188
Ensembl chrNW_004936663:348,368...355,191 		JBrowse link
G Ltbp2 latent transforming growth factor beta binding protein 2 ISO ClinVar Annotator: match by term: Primary congenital glaucoma ClinVar PMID:25741868 NCBI chrNW_004936488:3,682,044...3,790,988
Ensembl chrNW_004936488:3,685,334...3,791,063 		JBrowse link
Primary Congenital Glaucoma 3, D term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ltbp2 latent transforming growth factor beta binding protein 2 ISO ClinVar Annotator: match by term: Glaucoma 3, primary congenital, D | ClinVar Annotator: match by term: Glaucoma 3, primary congenital, d OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:19361779 PMID:19656777 PMID:20179738 More... NCBI chrNW_004936488:3,682,044...3,790,988
Ensembl chrNW_004936488:3,685,334...3,791,063 		JBrowse link
Primary Congenital Glaucoma 3, E term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tek TEK receptor tyrosine kinase ISO ClinVar Annotator: match by term: Glaucoma 3, primary congenital, E | ClinVar Annotator: match by term: TEK-related condition OMIM
ClinVar		 PMID:25741868 PMID:27270174 PMID:28492532 NCBI chrNW_004936611:2,420,176...2,531,726
Ensembl chrNW_004936611:2,420,172...2,531,722 		JBrowse link
primary open angle glaucoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acvr1 activin A receptor type 1 ISO DNA:SNP:3'utr: (rs12997) RGD PMID:33443061 RGD:329328928 NCBI chrNW_004936469:20,743,195...20,811,567
Ensembl chrNW_004936469:20,743,213...20,811,569 		JBrowse link
G Adamts10 ADAM metallopeptidase with thrombospondin type 1 motif 10 ISO Glaucoma, primary open angle, ADAMTS10-related OMIA PMID:924743 PMID:1428571 PMID:2764345 PMID:2764346 PMID:2925324 More... NCBI chrNW_004936588:5,337,519...5,356,978
Ensembl chrNW_004936588:5,337,877...5,354,848 		JBrowse link
G Adamts17 ADAM metallopeptidase with thrombospondin type 1 motif 17 ISO Glaucoma, primary open angle, ADAMTS17-related OMIA PMID:26277300 PMID:26456751 PMID:26474315 PMID:26683476 PMID:26945802 More... NCBI chrNW_004936483:3,388,269...3,735,169
Ensembl chrNW_004936483:3,388,342...3,732,639 		JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing ISO DNA:SNP: :rs2241766 (human) RGD PMID:22553514 RGD:8547563 NCBI chrNW_004936578:3,168,599...3,179,369
Ensembl chrNW_004936578:3,168,331...3,171,928 		JBrowse link
G Adrb2 adrenoceptor beta 2 onset ISO DNA:polymprphism:cds:p.R16G(human) RGD PMID:16785856 RGD:8548468 NCBI chrNW_004936504:5,985,407...5,987,453
Ensembl chrNW_004936504:5,985,960...5,987,210 		JBrowse link
G Apoe apolipoprotein E no_association
susceptibility		 ISO DNA:polymorphisms:promoter:
DNA:polymorphism:exon:		 RGD PMID:15525904 PMID:17706090 RGD:7495787 RGD:7771556 NCBI chrNW_004936706:1,512,438...1,516,805 JBrowse link
G Bdnf brain derived neurotrophic factor ISO protein:decreased expression:serum: RGD PMID:21076359 RGD:8655612 NCBI chrNW_004936540:5,530,081...5,582,765
Ensembl chrNW_004936540:5,529,942...5,585,014 		JBrowse link
G Camk1d calcium/calmodulin dependent protein kinase ID ISO ClinVar Annotator: match by term: Primary open angle glaucoma ClinVar PMID:28492532 NCBI chrNW_004936484:2,626,909...2,768,304
Ensembl chrNW_004936484:2,632,107...3,023,869 		JBrowse link
G Card10 caspase recruitment domain family member 10 ISO ClinVar Annotator: match by term: Primary open angle glaucoma ClinVar PMID:27896285 NCBI chrNW_004936492:3,520,129...3,545,178
Ensembl chrNW_004936492:3,522,533...3,545,279 		JBrowse link
G Cav1 caveolin 1 no_association ISO DNA:SNP:promoter:rs4236601 (human)
DNA:SNPs: :multiple		 RGD PMID:20835238 PMID:22876122 PMID:24572674 RGD:8661770 RGD:8661776 RGD:8661783 NCBI chrNW_004936589:2,504,235...2,536,778
Ensembl chrNW_004936589:2,504,224...2,537,170 		JBrowse link
G Cav2 caveolin 2 ISO DNA:SNPs: :rs10278782, rs1052990 (human) RGD PMID:24572674 RGD:8661770 NCBI chrNW_004936589:2,553,932...2,561,186
Ensembl chrNW_004936589:2,552,477...2,561,569 		JBrowse link
G Ccdc3 coiled-coil domain containing 3 ISO ClinVar Annotator: match by term: Primary open angle glaucoma ClinVar PMID:28492532 NCBI chrNW_004936484:2,455,819...2,567,467
Ensembl chrNW_004936484:2,455,819...2,568,682 		JBrowse link
G Cdkn1a cyclin dependent kinase inhibitor 1A no_association
susceptibility		 ISO DNA:polymorphism:cds:p.S31R(human) RGD PMID:14738489 PMID:15807891 RGD:8661806 RGD:8661807 NCBI chrNW_004936476:22,717,308...22,725,127
Ensembl chrNW_004936476:22,717,260...22,725,182 		JBrowse link
G Col6a3 collagen type VI alpha 3 chain ISO DNA:SNP:CDS:D563, rs112913396 (human) RGD PMID:34143713 RGD:401851036 NCBI chrNW_004936525:905,419...983,486
Ensembl chrNW_004936525:921,725...983,377 		JBrowse link
G Edn1 endothelin 1 ISO protein:increased expression:plasma (human) RGD PMID:22406080 RGD:8661676 NCBI chrNW_004936534:885,489...892,292
Ensembl chrNW_004936534:885,287...891,772 		JBrowse link
G Eln elastin ISO RGD PMID:1526740 RGD:9585735 NCBI chrNW_004936543:3,135,169...3,165,023 JBrowse link
G Esr2 estrogen receptor 2 severity ISO DNA:SNPs, haplotypes
DNA:snps:introns: IVS3 T>C, IVS8 A>G (rs1256031, rs4986938) (human)		 RGD PMID:18195227 PMID:20399928 RGD:8553056 RGD:8694092 NCBI chrNW_004936495:7,956,168...8,018,356
Ensembl chrNW_004936495:7,956,766...8,004,357 		JBrowse link
G Glul glutamate-ammonia ligase ISO protein:increases expression:aqueous humor RGD PMID:22974818 RGD:401794589 NCBI chrNW_004936481:7,293,301...7,301,416
Ensembl chrNW_004936481:7,293,091...7,306,202 		JBrowse link
G Gucy1a1 guanylate cyclase 1 soluble subunit alpha 1 ISO OMIM:137760 MouseDO NCBI chrNW_004936576:2,353,874...2,411,747
Ensembl chrNW_004936576:2,353,761...2,411,425 		JBrowse link
G Lamb2 laminin subunit beta 2 ISO DNA:SNP:CDS:E987K, rs34759087 (human) RGD PMID:34143713 RGD:401851036 NCBI chrNW_004936529:826,178...841,304
Ensembl chrNW_004936529:826,142...841,337 		JBrowse link
G LOC101970101 cytochrome P450 1B1 severity
susceptibility		 ISO DNA:snp:cds:p.N453S (human)
ClinVar Annotator: match by term: Primary open angle glaucoma
DNA:snp, missense mutations, haplotype:promoter, cds:multiple (human)
DNA:missense mutations:exons:p.P193L, p.E229K, p.M292K (human)
DNA:snp:cds:p.L432V (human)		 RGD
ClinVar		 PMID:10655546 PMID:15342693 PMID:16319821 PMID:17563717 PMID:18055790 More... RGD:7800658 RGD:7800664 RGD:7800695 RGD:7800696 NCBI chrNW_004936663:345,021...355,188
Ensembl chrNW_004936663:348,368...355,191 		JBrowse link
G Loxl1 lysyl oxidase like 1 no_association ISO DNA:SNPs: :rs1048661, rs2165241, rs3825942 (human)
DNA:SNP, haplotype: :rs1048661, rs2165241, rs3825942 (human)		 RGD PMID:18223248 PMID:19098994 RGD:7387330 RGD:7394723 NCBI chrNW_004936471:33,075,542...33,099,877
Ensembl chrNW_004936471:33,075,461...33,099,910 		JBrowse link
G Ltbp2 latent transforming growth factor beta binding protein 2 ISO ClinVar Annotator: match by term: Primary open angle glaucoma ClinVar PMID:23401661 PMID:25741868 PMID:26425313 PMID:28492532 NCBI chrNW_004936488:3,682,044...3,790,988
Ensembl chrNW_004936488:3,685,334...3,791,063 		JBrowse link
G Mcm10 minichromosome maintenance 10 replication initiation factor ISO ClinVar Annotator: match by term: Primary open angle glaucoma ClinVar PMID:28492532 NCBI chrNW_004937104:132,692...160,965 JBrowse link
G Mmp1 matrix metallopeptidase 1 no_association ISO DNA:insertion:promoter:g.-1607insG rs1799750 (human)
DNA:SNP:promoter:rs1799750 (human)		 RGD PMID:20808730 PMID:23441116 RGD:8549724 RGD:8549725 NCBI chrNW_004936551:5,167,909...5,175,149
Ensembl chrNW_004936551:5,168,044...5,174,857 		JBrowse link
G Mmp9 matrix metallopeptidase 9 no_association ISO DNA:insertion: :p.Q279R (rs17576) (human) RGD PMID:20808730 RGD:8549725 NCBI chrNW_004936514:7,038,240...7,045,873
Ensembl chrNW_004936514:7,037,639...7,045,793 		JBrowse link
G Myoc myocilin susceptibility
no_association
severity		 ISO DNA:snp:cds:p.G367R (human)
ClinVar Annotator: match by term: Primary open angle glaucoma
DNA:snps, deletion:cds:p.G326S, p.T286R, p.Y453MfsX11 (human)
DNA:snp:promoter:g.-1000C>G (human)
DNA:snps:cds:p.G12R, p.V53A, p.T353I (human)
DNA:snps:cds:multiple (human)
DNA:snp:cds:pT377M (human)		 RGD
ClinVar		 PMID:9005853 PMID:9639450 PMID:10815160 PMID:11004290 PMID:11292420 More... RGD:1600842 RGD:7401163 RGD:7401168 RGD:7401170 RGD:7401189 RGD:7401240 RGD:7401245 NCBI chrNW_004936481:15,544,733...15,556,813
Ensembl chrNW_004936481:15,544,660...15,556,857 		JBrowse link
G Nos3 nitric oxide synthase 3 susceptibility
no_association		 ISO DNA:snp:promoter:g.-690C>T (human)
DNA:duplication:intron:IVS4?-?+27 (human)
associated with Hypertension;DNA:snp:promoter:g.-786T>C (rs2070744) (human)
DNA:snp:intron:g.IVS15+1759C>A (rs3918188) (human)
DNA:snps, haplotype:promoter, cds:g.-786T>C, p.E298D (human)
High Tension;DNA:snps:promoter, intron:g.-786T>C, g.IVS15+1759C>A (rs3918188) (human)
DNA:snps, haplotype:promoter, intron:g.-457C>T, g.IVS5+1182G>A (rs11771443, rs3793342) (human)		 RGD PMID:9493554 PMID:19815736 PMID:20069064 PMID:21245953 PMID:21670344 More... RGD:7771542 RGD:7771543 RGD:7771573 RGD:7771575 RGD:7775039 RGD:7775055 NCBI chrNW_004936527:6,427,147...6,445,770
Ensembl chrNW_004936527:6,427,093...6,446,534 		JBrowse link
G Ogg1 8-oxoguanine DNA glycosylase ISO DNA:SNP: :p.S326C (human) RGD PMID:23499241 RGD:8657152 NCBI chrNW_004936602:3,411,106...3,418,826
Ensembl chrNW_004936602:3,413,282...3,418,831 		JBrowse link
G Opa1 OPA1 mitochondrial dynamin like GTPase no_association ISO DNA:SNPs:exons, introns:multiple
mRNA:decreased expression:blood, leukocyte
DNA:SNPs: :rs166850, rs10451941 (human)
DNA:polymorphism:intron:IVS8+4C>T (human)		 RGD PMID:16785854 PMID:17188046 PMID:18079692 PMID:21552501 RGD:7800685 RGD:7800713 RGD:7800718 RGD:7800721 NCBI chrNW_004936711:1,027,531...1,113,796
Ensembl chrNW_004936711:1,032,935...1,106,847 		JBrowse link
G Optn optineurin no_association
susceptibility		 ISO DNA:SNPs:cds:p.T34T,E50K,M98K,R545Q, 691_692insAG,
DNA:polymorphism:exon:p.M98K(human)
DNA:polymorphisms, haplotype:exons:c.412G>A,603T>A(human)
ClinVar Annotator: match by term: Primary open angle glaucoma		 RGD
OMIM
ClinVar		 PMID:9536098 PMID:11834836 PMID:11978762 PMID:12208142 PMID:12789137 More... RGD:7775041 RGD:7775043 RGD:7775049 NCBI chrNW_004937104:73,340...113,179 JBrowse link
G Pon1 paraoxonase 1 susceptibility ISO DNA:snp:cds:p.Q192R (rs662) (human) RGD PMID:22553514 RGD:8547563 NCBI chrNW_004936585:4,954,871...4,979,560
Ensembl chrNW_004936585:4,954,869...4,979,591 		JBrowse link
G Sod2 superoxide dismutase 2 susceptibility ISO DNA:polymorphism: :rs2842980(human) RGD PMID:23638916 RGD:8158079 NCBI chrNW_004936489:11,178,338...11,191,601
Ensembl chrNW_004936489:11,178,015...11,191,781 		JBrowse link
G Tbk1 TANK binding kinase 1 ISO ClinVar Annotator: match by term: Primary open angle glaucoma ClinVar PMID:25700176 PMID:25741868 PMID:25803835 PMID:26476236 PMID:26581300 More... NCBI chrNW_004936545:2,763,755...2,809,229
Ensembl chrNW_004936545:2,763,596...2,809,709 		JBrowse link
G Thbs1 thrombospondin 1 ISO DNA:SNP:CDS:N700S, rs2228262 (human) RGD PMID:34143713 RGD:401851036 NCBI chrNW_004936471:3,064,466...3,081,125
Ensembl chrNW_004936471:3,064,422...3,081,949 		JBrowse link
G Tlr4 toll like receptor 4 susceptibility ISO DNA:polymorphism,haplotype:multiple: RGD PMID:22831837 RGD:7794768 NCBI chrNW_004936487:6,519,140...6,532,018
Ensembl chrNW_004936487:6,518,441...6,533,095 		JBrowse link
G Tnf tumor necrosis factor ISO DNA:polymorphisms, haplotype:promoter:-857C>T, -863C>A (human) RGD PMID:15557444 RGD:7775041 NCBI chrNW_004936727:1,936,066...1,937,766
Ensembl chrNW_004936727:1,936,066...1,937,766 		JBrowse link
G Tp53 tumor protein p53 susceptibility ISO DNA:polymorphism:cds:p.R72P(human) RGD PMID:23049825 RGD:8547822 NCBI chrNW_004936595:919,807...935,367
Ensembl chrNW_004936595:919,428...925,425 		JBrowse link
G Wdr36 WD repeat domain 36 susceptibility
no_association		 ISO DNA:polymorphisms:cds:p.D658G, N355S, A449T and R529Q (human)
ClinVar Annotator: match by term: Primary open angle glaucoma
DNA:polymorphism:cds:p.D658G		 RGD
ClinVar		 PMID:15677485 PMID:16876519 PMID:25741868 PMID:28492532 RGD:8548465 RGD:8548466 NCBI chrNW_004936531:5,513,082...5,546,515
Ensembl chrNW_004936531:5,513,082...5,548,501 		JBrowse link
Proximal Renal Tubular Acidosis, with Ocular Abnormalities and Mental Retardation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc4a4 solute carrier family 4 member 4 ISO ClinVar Annotator: match by term: RTA, PROXIMAL, AUTOSOMAL RECESSIVE OMIM
ClinVar		 PMID:10545938 PMID:11274232 PMID:18658147 PMID:20197274 PMID:21234596 More... NCBI chrNW_004936598:3,391,587...3,713,629
Ensembl chrNW_004936598:3,391,575...3,713,635 		JBrowse link
Weill-Marchesani Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Weill-Marchesani Syndrome, Autosomal Dominant | ClinVar Annotator: match by term: Weill-Marchesani syndrome 2 OMIM
ClinVar		 PMID:627879 PMID:948948 PMID:1852208 PMID:2005308 PMID:2254511 More... NCBI chrNW_004936471:10,747,030...10,969,223
Ensembl chrNW_004936471:10,746,996...10,969,231 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    sensory system disease 6287
      eye disease 3217
        ocular hypertension 174
          glaucoma + 159
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14121
      cardiovascular system disease 4136
        vascular disease 2899
          artery disease 1923
            hypertension 953
              ocular hypertension 174
                glaucoma + 159
paths to the root