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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


show annotations for term's descendants           Sort by:
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 IEP mRNA, protein:increased expression:retina, muller cell RGD PMID:17102796 RGD:1601004 NCBI chr 1:174,133,260...174,159,966
Ensembl chr 1:174,133,288...174,160,184 		JBrowse link
G Apoa1 apolipoprotein A1 IEP protein:increased expression:retina RGD PMID:18626730 RGD:2303613 NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035 		JBrowse link
G Aqp4 aquaporin 4 ISO RGD PMID:22943863 RGD:8698651 NCBI chr18:6,507,903...6,524,558
Ensembl chr18:6,507,903...6,524,856 		JBrowse link
G Bcl2l1 Bcl2-like 1 IEP mRNA:increased expression:retina RGD PMID:17640403 RGD:1643493 NCBI chr 3:141,253,508...141,304,582
Ensembl chr 3:141,253,523...141,303,479 		JBrowse link
G Bmp4 bone morphogenetic protein 4 ISO RGD PMID:11722794 RGD:8698668 NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306 		JBrowse link
G C1qb complement C1q B chain IEP mRNA:increased expression:retina RGD PMID:16677633 RGD:1599509 NCBI chr 5:149,118,843...149,124,394
Ensembl chr 5:149,118,846...149,124,407 		JBrowse link
G C3 complement C3 IEP mRNA, protein:increased expression:retina RGD PMID:16677633 RGD:1599509 NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429 		JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A ISO RGD PMID:14985792 RGD:8661805 NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585 		JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO RGD PMID:19797236 RGD:8552669 NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624 		JBrowse link
G Cryaa crystallin, alpha A IEP protein:decreased expression:retina RGD PMID:18626730 RGD:2303613 NCBI chr20:9,783,605...9,787,351
Ensembl chr20:9,783,605...9,787,349 		JBrowse link
G Cryba1 crystallin, beta A1 IEP mRNA:decreased expression:retina RGD PMID:17102796 RGD:1601004 NCBI chr10:62,608,373...62,614,726
Ensembl chr10:62,608,383...62,614,726 		JBrowse link
G Ddit3 DNA-damage inducible transcript 3 ISO CTD Direct Evidence: therapeutic CTD PMID:24691439 NCBI chr 7:63,115,645...63,121,203
Ensembl chr 7:63,116,380...63,121,201 		JBrowse link
G Fas Fas cell surface death receptor IEP protein:increased expression:retina, microglial cell RGD PMID:17045251 RGD:1600312 NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591 		JBrowse link
G Gli1 GLI family zinc finger 1 IEP mRNA, protein:increased expression:retinal ganglion cell RGD PMID:20071678 RGD:2324982 NCBI chr 7:63,156,926...63,169,579
Ensembl chr 7:63,156,926...63,169,251 		JBrowse link
G Mmp1 matrix metallopeptidase 1 treatment ISO CTD Direct Evidence: therapeutic CTD
RGD		 PMID:20089869 PMID:20089869 RGD:8549723 NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097 		JBrowse link
G Mmp2 matrix metallopeptidase 2 IEP mRNA, protein:increased expression:eye RGD PMID:19575923 RGD:2325732 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870 		JBrowse link
G Mmp9 matrix metallopeptidase 9 IEP mRNA, protein:increased expression:eye RGD PMID:19575923 RGD:2325732 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Myoc myocilin treatment ISO
IEP		 mRNA:decreased expression:eye, trabecular mesh (mouse)
mRNA:increased expression:retina (rat)
associated with Glaucoma, Primary Open Angle; DNA:snp:cds:p.T377M (human)		 RGD PMID:23322580 PMID:17102796 PMID:20107173 PMID:23322580 RGD:7394804, RGD:1601004, RGD:7394831, RGD:7394804 NCBI chr13:74,976,730...74,987,128
Ensembl chr13:74,976,730...74,987,127 		JBrowse link
G Nr3c1 nuclear receptor subfamily 3, group C, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17563720 NCBI chr18:31,271,681...31,393,320
Ensembl chr18:31,271,681...31,393,375 		JBrowse link
G Opa1 OPA1, mitochondrial dynamin like GTPase IEP mRNA, protein:increased expression:retina RGD PMID:21220562 RGD:7800684 NCBI chr11:71,108,100...71,185,170
Ensembl chr11:71,109,873...71,185,109 		JBrowse link
G Sh3pxd2b SH3 and PX domains 2B ISO CTD Direct Evidence: marker/mechanism CTD PMID:28719234 NCBI chr10:16,918,611...17,027,499
Ensembl chr10:16,918,679...17,005,170 		JBrowse link
G Shh sonic hedgehog signaling molecule IEP RGD PMID:20071678 RGD:2324982 NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170 		JBrowse link
G Smo smoothened, frizzled class receptor IEP mRNA, protein:increased expression:retinal ganglion cell RGD PMID:20071678 RGD:2324982 NCBI chr 4:58,343,626...58,373,823
Ensembl chr 4:58,343,529...58,373,829 		JBrowse link
G Sod1 superoxide dismutase 1 IEP protein:decreased expression:retina RGD PMID:18626730 RGD:2303613 NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249 		JBrowse link
G Tpi1 triosephosphate isomerase 1 IEP protein:decreased expression:retina RGD PMID:18626730 RGD:2303613 NCBI chr 4:157,615,283...157,618,813
Ensembl chr 4:157,615,386...157,619,541 		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 chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932 		JBrowse link
G Cat catalase severity ISO DNA:SNP:promoter:g.4760C>T(rs1001179)(human) RGD PMID:23961996 RGD:9068947 NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478 		JBrowse link
G Chat choline O-acetyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:27064256 NCBI chr16:7,657,362...7,717,093
Ensembl chr16:7,657,362...7,717,093 		JBrowse link
G Col11a1 collagen type XI alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:22922875 PMID:27064256 NCBI chr 2:201,820,715...202,013,853
Ensembl chr 2:201,820,715...202,013,853 		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 chr20:11,474,104...11,582,593
Ensembl chr20:11,474,104...11,582,593 		JBrowse link
G Edn1 endothelin 1 ISO protein:increased expression:plasma (human) RGD PMID:21946544 RGD:8661736 NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885 		JBrowse link
G Epdr1 ependymin related 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27064256 NCBI chr17:45,333,932...45,358,597
Ensembl chr17:45,333,956...45,358,594 		JBrowse link
G Fermt2 FERM domain containing kindlin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27064256 NCBI chr15:18,682,927...18,751,959
Ensembl chr15:18,682,927...18,751,811 		JBrowse link
G Glis3 GLIS family zinc finger 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27064256 NCBI chr 1:225,976,029...226,395,849
Ensembl chr 1:225,976,326...226,395,899 		JBrowse link
G Gstm1 glutathione S-transferase mu 1 susceptibility ISO DNA:deletion, haplotype:cds (human) RGD PMID:18334963 RGD:7488955 NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411 		JBrowse link
G Hgf hepatocyte growth factor susceptibility ISO DNA:SNPs,haplotype::rs5745718,rs1742817(human) RGD PMID:23585864 RGD:8548548 NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409 		JBrowse link
G Loxl1 lysyl oxidase-like 1 no_association ISO DNA:SNPs: :rs1048661, rs2165241, rs3825942 (human) RGD PMID:18223248 RGD:7394723 NCBI chr 8:58,691,763...58,716,365
Ensembl chr 8:58,692,593...58,716,356 		JBrowse link
G Mmp9 matrix metallopeptidase 9 no_association ISO DNA:SNP: :rs2664538 (human)
DNA:SNP:promoter:-1562C>T (human)
DNA:SNP: :c.836A>G (rs17576) (human)
DNA:SNPs: :rs17576, rs3918249 (human)		 RGD PMID:17110919 PMID:23441116 PMID:23441116 PMID:21655354 RGD:8547816, RGD:8549724, RGD:8549724, RGD:8547830 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:SNPs: :677C>T,1298A>C(human) RGD PMID:19936026 RGD:7387250 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797 		JBrowse link
G Muc5ac mucin 5AC, oligomeric mucus/gel-forming ISO associated with Cataract;protein:decreased expression:tear RGD PMID:21139981 RGD:7364742 NCBI chr 1:196,864,336...196,896,475
Ensembl chr 1:196,864,336...196,896,475 		JBrowse link
G Nos3 nitric oxide synthase 3 susceptibility ISO DNA:duplication:intron:IVS4?-?+27 (human)
DNA:snps:introns:g.IVS5+1182G>A, g.IVS25+11C>A (rs3793342, rs7830) (human)		 RGD PMID:20069064 PMID:23422825 RGD:7771573, RGD:7775046 NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166 		JBrowse link
G Plekha7 pleckstrin homology domain containing A7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22922875 PMID:27064256 NCBI chr 1:170,364,524...170,547,843
Ensembl chr 1:170,365,135...170,547,775 		JBrowse link
G Prss56 serine protease 56 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21532570 NCBI chr 9:87,842,806...87,859,978
Ensembl chr 9:87,854,805...87,859,978 		JBrowse link
G Sh3pxd2b SH3 and PX domains 2B ISO CTD Direct Evidence: marker/mechanism CTD PMID:28719234 NCBI chr10:16,918,611...17,027,499
Ensembl chr10:16,918,679...17,005,170 		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 chr20:11,584,410...11,602,429
Ensembl chr20:11,584,411...11,601,972 		JBrowse link
G Tfap2b transcription factor AP-2 beta ISS MouseDO NCBI chr 9:21,786,251...21,816,054
Ensembl chr 9:21,786,258...21,814,520 		JBrowse link
anterior segment dysgenesis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxc1 forkhead box C1 ISO ClinVar Annotator: match by term: Anterior segment dysgenesis 3 | ClinVar Annotator: match by term: Glaucoma iridogoniodysplasia, familial
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9620769 PMID:9792859 PMID:11007653 PMID:11170889 PMID:12036988 More... NCBI chr17:32,631,379...32,635,361
Ensembl chr17:32,633,142...32,634,803 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:7581385 PMID:8942889 PMID:9437321 PMID:9618168 PMID:10502778 More... NCBI chr 2:217,717,738...217,737,293
Ensembl chr 2:217,717,693...217,737,293 		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 chr 6:15,139,071...15,180,421
Ensembl chr 6:15,139,044...15,180,421 		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 chr 4:155,332,827...155,413,098
Ensembl chr 4:155,332,827...155,413,117 		JBrowse link
G Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 susceptibility ISO
ISS		 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
OMIM:231300
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.A388T (human)
DNA:missense mutation, deletion:exon:p.R390H, g.4633delC (human)
DNA:duplication:exon:g.1546-1555dupTCATGCCACC (human)
DNA:missense mutations:exons:p.G61E, p.R368H, p.D374N (human)
DNA:missense mutations:exons:p.G61E, p.R469W, p.R523K (human)
DNA:deletion, snp:exons:g.4339delG, p.G61E (human)
DNA:snp:cds:p.E387K (human)
DNA:polymorphisms:multiple (human)		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:2782041 PMID:9097971 PMID:9463332 PMID:9497261 PMID:9536098 More... RGD:7800719, RGD:7800711, RGD:7800707, RGD:7800689, RGD:7800688, RGD:7800680, RGD:7800670, RGD:7800657, RGD:734869 NCBI chr 6:15,342,312...15,350,886
Ensembl chr 6:15,342,344...15,350,917 		JBrowse link
G Foxc1 forkhead box C1 ISS OMIM:231300 MouseDO NCBI chr17:32,631,379...32,635,361
Ensembl chr17:32,633,142...32,634,803 		JBrowse link
G Galm galactose mutarotase ISO ClinVar Annotator: match by term: Congenital glaucoma ClinVar PMID:9097971 PMID:9497261 PMID:19234632 PMID:28492532 PMID:31251480 NCBI chr 6:14,837,540...14,889,484
Ensembl chr 6:14,837,548...14,889,310 		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 chr 6:14,969,953...15,000,574
Ensembl chr 6:14,970,057...14,999,745 		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 chr 6:104,429,947...104,530,498
Ensembl chr 6:104,429,947...104,526,208 		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 chr13:74,976,730...74,987,128
Ensembl chr13:74,976,730...74,987,127 		JBrowse link
G Pxdn peroxidasin ISO ClinVar Annotator: match by term: Glaucoma 3, primary congenital, A ClinVar PMID:25741868 NCBI chr 6:46,580,749...46,658,345
Ensembl chr 6:46,580,761...46,658,345 		JBrowse link
G Tyr tyrosinase ISS OMIM:231300 MouseDO NCBI chr 1:141,115,036...141,210,207
Ensembl chr 1:141,115,036...141,210,207 		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 chr 1:219,673,200...220,557,610
Ensembl chr 1:219,672,892...220,560,717 		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
ISS		 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:604563
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9521281 PMID:9536098 PMID:10932274 PMID:12554688 PMID:12687498 More... NCBI chr 1:164,352,892...164,719,883
Ensembl chr 1:164,353,444...164,719,807 		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 chr 3:42,978,558...43,097,892
Ensembl chr 3:42,978,561...43,098,241 		JBrowse link
G Agpat1 1-acylglycerol-3-phosphate O-acyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28553957 NCBI chr20:4,135,955...4,144,880
Ensembl chr20:4,135,957...4,145,278 		JBrowse link
G Apoe apolipoprotein E susceptibility ISO DNA:polymorphism:exon: RGD PMID:15939044 RGD:7771555 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932 		JBrowse link
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISO CTD Direct Evidence: marker/mechanism CTD PMID:25706626 NCBI chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225 		JBrowse link
G Cav1 caveolin 1 no_association ISO DNA:SNP:promoter:rs4236601 (human) RGD PMID:20835238 RGD:8661783 NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705 		JBrowse link
G Clu clusterin no_association ISO DNA:SNPs, haplotype: :multiple
DNA:SNP:intron:rs2279590 (human)		 RGD PMID:18806885 PMID:25057782 PMID:19182256 PMID:19182256 PMID:16639006 RGD:8699505, RGD:9068391, RGD:8887372, RGD:8887372, RGD:8699516 NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315 		JBrowse link
G Edn1 endothelin 1 ISO associated with Cataract;protein:increased expression:aqueous humor (human) RGD PMID:15031170 RGD:8661674 NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885 		JBrowse link
G Eln elastin ISO RGD PMID:7777294 RGD:9585736 NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928 		JBrowse link
G Gstm1 glutathione S-transferase mu 1 susceptibility
no_association		 ISO DNA:deletion, haplotype:cds (human)
DNA:deletion:cds (human)		 RGD PMID:18334963 PMID:16020292 RGD:7488955, RGD:7495792 NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411 		JBrowse link
G Gstt1 glutathione S-transferase theta 1 susceptibility
no_association		 ISO DNA:deletion:cds (human)
mRNA:decreased expression:ciliary processes, iris (human)		 RGD PMID:21151336 PMID:18055805 PMID:16020292 RGD:7794822, RGD:7794853, RGD:7495792 NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585 		JBrowse link
G Loxl1 lysyl oxidase-like 1 susceptibility
no_association		 ISO
ISS		 DNA:SNP: :p.R141L (rs1048661) (human)
ClinVar Annotator: match by term: Exfoliation syndrome, susceptibility to
OMIM:177650
CTD Direct Evidence: marker/mechanism
DNA:CNVs
DNA:SNPs:exon:p.R141L, p.G153D (human)
DNA:SNP, haplotypes:promoter:multiple
DNA:SNP:exon:rs1048661, rs3825942 (human)
DNA:SNP, haplotypes: :rs1048661, rs3825942 (human)
DNA:SNP: :multiple		 ClinVar
MouseDO
OMIM
CTD
RGD		 PMID:17690259 PMID:18037624 PMID:19343041 PMID:25706626 PMID:25741868 More... RGD:7387325, RGD:7394726, RGD:7387333, RGD:7387332, RGD:7387331, RGD:7387329, RGD:7387328, RGD:7387327, RGD:7387326 NCBI chr 8:58,691,763...58,716,365
Ensembl chr 8:58,692,593...58,716,356 		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 chr 6:104,429,947...104,530,498
Ensembl chr 6:104,429,947...104,526,208 		JBrowse link
G Lyst lysosomal trafficking regulator ISS OMIM:177650 MouseDO NCBI chr17:86,241,384...86,443,501
Ensembl chr17:86,241,384...86,443,480 		JBrowse link
G Mmp1 matrix metallopeptidase 1 no_association ISO DNA:insertion:promoter:g.-1607insG rs1799750 (human) RGD PMID:20808730 RGD:8549725 NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097 		JBrowse link
G Mmp9 matrix metallopeptidase 9 no_association ISO DNA:insertion: :p.Q279R (rs17576) (human) RGD PMID:20808730 RGD:8549725 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Optn optineurin no_association ISO DNA:polymorphism: :p.M98K (human) RGD PMID:16020311 RGD:6480509 NCBI chr17:73,209,572...73,260,251
Ensembl chr17:73,209,575...73,260,251 		JBrowse link
G Pomp proteasome maturation protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:28553957 NCBI chr12:7,162,098...7,174,737
Ensembl chr12:7,160,714...7,174,715 		JBrowse link
G Pon1 paraoxonase 1 ISO protein:decreased expression:serum (human) RGD PMID:19628957 RGD:8547685 NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360 		JBrowse link
G Rbms3 RNA binding motif, single stranded interacting protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28553957 NCBI chr 8:116,305,227...117,625,730
Ensembl chr 8:116,309,882...117,625,423 		JBrowse link
G Sod2 superoxide dismutase 2 ISO associated with cataract;mRNA:increased expression:lens epithelium:
associated with glaucoma,primary open angle; mRNA:increased expression: ciliary body, iris:		 RGD PMID:23805041 PMID:18055805 RGD:8158048, RGD:7794853 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189 		JBrowse link
G Stra6 signaling receptor and transporter of retinol STRA6 ISO mRNA:decreased expression:iris, retina (human) RGD PMID:30986821 RGD:155631292 NCBI chr 8:58,548,899...58,568,861
Ensembl chr 8:58,549,736...58,568,860 		JBrowse link
G Tlcd5 TLC domain containing 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28553957 NCBI chr 8:43,481,388...43,486,288
Ensembl chr 8:43,479,016...43,486,290 		JBrowse link
G Tlr4 toll-like receptor 4 susceptibility ISO DNA:haplotype:: RGD PMID:22831837 RGD:7794768 NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628 		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 IDA RGD PMID:23702784 RGD:9685447 NCBI chr  X:30,293,597...30,340,961
Ensembl chr  X:30,293,589...30,340,977 		JBrowse link
G Ago2 argonaute RISC catalytic component 2 exacerbates ISO RGD PMID:29392316 RGD:401900730 NCBI chr 7:105,018,202...105,105,118
Ensembl chr 7:105,029,120...105,104,974 		JBrowse link
G Anxa3 annexin A3 IEP mRNA:increased expression:retina RGD PMID:18055803 RGD:2289160 NCBI chr14:12,727,708...12,781,717
Ensembl chr14:12,719,795...12,781,617 		JBrowse link
G Apoa4 apolipoprotein A4 ISO Primary Congenital Glaucoma; protein:increased expression:aqueous humor (human) RGD PMID:21078314 RGD:5685641 NCBI chr 8:46,539,083...46,541,464
Ensembl chr 8:46,539,082...46,541,469 		JBrowse link
G Apoe apolipoprotein E ISO GAD PMID:15118671 RGD:1331525 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932 		JBrowse link
G Arhgef12 Rho guanine nucleotide exchange factor 12 ISO ClinVar Annotator: match by term: Glaucoma ClinVar PMID:25741868 NCBI chr 8:43,350,070...43,475,404
Ensembl chr 8:43,353,799...43,476,366 		JBrowse link
G Atf2 activating transcription factor 2 IEP RGD PMID:17586494 RGD:10047416 NCBI chr 3:58,718,323...58,795,280
Ensembl chr 3:58,718,332...58,795,236 		JBrowse link
G Bad BCL2-associated agonist of cell death IEP protein:decreased serine phosphorylation:retina RGD PMID:16103353 RGD:2292690 NCBI chr 1:204,133,502...204,142,829
Ensembl chr 1:204,131,501...204,142,823 		JBrowse link
G Bax BCL2 associated X, apoptosis regulator IEP mRNA:increased expression:optic nerve, retina RGD PMID:24357921 RGD:10054098 NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368 		JBrowse link
G Bcl2 BCL2, apoptosis regulator IEP mRNA:decreased expression:optic nerve, retina RGD PMID:24357921 RGD:10054098 NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743 		JBrowse link
G Bdnf brain-derived neurotrophic factor treatment ISO
IDA
IEP		 protein:decreased expression:eye: RGD PMID:19422885 PMID:21498611 PMID:10711692 RGD:8655601, RGD:8655886, RGD:8655608 NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615 		JBrowse link
G Becn1 beclin 1 IEP protein:increased expression:eye RGD PMID:22476098 RGD:6483048 NCBI chr10:86,231,387...86,246,742
Ensembl chr10:86,231,388...86,246,742 		JBrowse link
G Bex3 brain expressed X-linked 3 IEP mRNA:decreased expression:retina RGD PMID:19682984 RGD:9743977 NCBI chr  X:99,273,270...99,274,799
Ensembl chr  X:99,273,161...99,274,800 		JBrowse link
G Ccnd2 cyclin D2 IEP mRNA:increased expression:retina RGD PMID:18055803 RGD:2289160 NCBI chr 4:159,966,883...159,989,261
Ensembl chr 4:159,962,363...159,989,495 		JBrowse link
G Ccr5 C-C motif chemokine receptor 5 ISO RGD PMID:16159632 RGD:8549757 NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260 		JBrowse link
G Cdkn1b cyclin-dependent kinase inhibitor 1B IEP mRNA, protein:decreased expression:retina, Muller cell RGD PMID:16707124 RGD:2293623 NCBI chr 4:167,760,067...167,765,177
Ensembl chr 4:167,760,181...167,764,982 		JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21532571 NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149 		JBrowse link
G Cdkn2b cyclin-dependent kinase inhibitor 2B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21532571 NCBI chr 5:104,009,839...104,019,082
Ensembl chr 5:104,010,680...104,019,050 		JBrowse link
G Cfh complement factor H ISO protein:decreased expression:retina: RGD PMID:20484586 RGD:7364950 NCBI chr13:51,512,376...51,613,829
Ensembl chr13:51,511,828...51,613,838 		JBrowse link
G Cntf ciliary neurotrophic factor ameliorates IDA
ISO		 RGD PMID:14725620 PMID:19060281 RGD:1626115, RGD:8655853 NCBI chr 1:209,887,854...209,889,877
Ensembl chr 1:209,887,854...209,889,877 		JBrowse link
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Glaucoma ClinVar PMID:25741868 NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888 		JBrowse link
G Cx3cr1 C-X3-C motif chemokine receptor 1 ISO RGD PMID:24989686 RGD:9384823 NCBI chr 8:119,785,726...119,799,431
Ensembl chr 8:119,782,595...119,800,014 		JBrowse link
G Eef2 eukaryotic translation elongation factor 2 ISO associated with Exfoliation Syndrome; RGD PMID:20107165 RGD:10401222 NCBI chr 7:8,533,248...8,538,518
Ensembl chr 7:8,533,116...8,559,183 		JBrowse link
G Epo erythropoietin ISO
IEP		 protein:increased expression:retina: RGD PMID:19741249 PMID:17554621 PMID:17554621 RGD:10401071, RGD:11041649, RGD:11041649 NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946 		JBrowse link
G Epor erythropoietin receptor IEP protein:increased expression:retina: RGD PMID:17554621 RGD:11041649 NCBI chr 8:20,489,678...20,494,257
Ensembl chr 8:20,489,678...20,494,257 		JBrowse link
G Fas Fas cell surface death receptor ISO protein:increased expression:optic nerve head, axon (human) RGD PMID:19043361 RGD:8662440 NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591 		JBrowse link
G Foxc1 forkhead box C1 ISO associated with Axenfeld-Rieger Syndrome;DNA:mutation:cds:p.Q120X(human) RGD PMID:18498376 RGD:12904045 NCBI chr17:32,631,379...32,635,361
Ensembl chr17:32,633,142...32,634,803 		JBrowse link
G Foxd3 forkhead box D3 ISO mRNA:increased expression:optic nerve head (human) RGD PMID:28990066 RGD:155630605 NCBI chr 5:114,335,084...114,337,450
Ensembl chr 5:114,335,408...114,336,817 		JBrowse link
G Gem GTP binding protein overexpressed in skeletal muscle IEP mRNA:decreased expression:optic nerve head (rat) RGD PMID:28990066 RGD:155630605 NCBI chr 5:25,214,309...25,225,222
Ensembl chr 5:25,214,309...25,225,222 		JBrowse link
G Hdac1 histone deacetylase 1 ISO
IEP		 mRNA:increased expression:optic nerve head (human)
mRNA:increased expression:optic nerve head (rat)		 RGD PMID:28990066 PMID:28990066 RGD:155630605, RGD:155630605 NCBI chr 5:141,853,992...141,881,057
Ensembl chr 5:141,853,989...141,881,111 		JBrowse link
G Heph hephaestin ISO mRNA:increased expression:optic nerve head (human) RGD PMID:28990066 RGD:155630605 NCBI chr  X:61,151,131...61,402,980
Ensembl chr  X:61,296,345...61,402,980 		JBrowse link
G Hnf4a hepatocyte nuclear factor 4, alpha ISO mRNA:increased expression:optic nerve head (human) RGD PMID:28990066 RGD:155630605 NCBI chr 3:152,186,787...152,248,320
Ensembl chr 3:152,186,787...152,248,320 		JBrowse link
G Id1 inhibitor of DNA binding 1 ISO mRNA:increased expression:optic nerve head (human) RGD PMID:28990066 RGD:155630605 NCBI chr 3:141,210,666...141,212,420
Ensembl chr 3:141,211,267...141,212,419 		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 chr 5:109,894,175...109,897,268
Ensembl chr 5:109,893,145...109,897,656 		JBrowse link
G Lgr4 leucine-rich repeat-containing G protein-coupled receptor 4 ISS MouseDO NCBI chr 3:96,447,385...96,550,006
Ensembl chr 3:96,447,858...96,548,899 		JBrowse link
G Lingo1 leucine rich repeat and Ig domain containing 1 treatment ISO RGD PMID:19422885 RGD:8655601 NCBI chr 8:57,011,272...57,193,496
Ensembl chr 8:57,010,007...57,196,544 		JBrowse link
G Ltbp2 latent transforming growth factor beta binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19361779 PMID:27149523 NCBI chr 6:104,429,947...104,530,498
Ensembl chr 6:104,429,947...104,526,208 		JBrowse link
G Map1lc3a microtubule-associated protein 1 light chain 3 alpha IEP protein:increased expression:optic nerve RGD PMID:24136224 RGD:13782046 NCBI chr 3:143,783,024...143,784,670
Ensembl chr 3:143,783,024...143,784,670 		JBrowse link
G Mas1 MAS1 proto-oncogene, G protein-coupled receptor treatment IMP RGD PMID:23702784 RGD:9685447 NCBI chr 1:47,879,956...47,911,500
Ensembl chr 1:47,880,309...47,911,709 		JBrowse link
G Mettl23 methyltransferase 23, arginine ISS MouseDO NCBI chr10:102,047,090...102,053,379
Ensembl chr10:102,047,314...102,051,977 		JBrowse link
G Mir145 microRNA 145 ameliorates IMP RGD PMID:34291866 RGD:155260301 NCBI chr18:55,099,640...55,099,727
Ensembl chr18:55,099,640...55,099,727 		JBrowse link
G Mir200c microRNA 200c treatment IMP RGD PMID:23272142 RGD:155882562 NCBI chr 4:157,523,679...157,523,747 JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO RGD PMID:16185954 RGD:8547817 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Muc5ac mucin 5AC, oligomeric mucus/gel-forming ISO protein:increased expression:conjunctival epithelial cell RGD PMID:16809382 RGD:7364743 NCBI chr 1:196,864,336...196,896,475
Ensembl chr 1:196,864,336...196,896,475 		JBrowse link
G Mylk myosin light chain kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20375339 NCBI chr11:65,783,008...66,030,239
Ensembl chr11:65,783,008...66,030,261 		JBrowse link
G Myoc myocilin TAS
ISO		 ClinVar Annotator: match by term: Glaucoma
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:9535666 PMID:9772276 PMID:9804137 PMID:10196380 PMID:10330365 More... RGD:633384 NCBI chr13:74,976,730...74,987,128
Ensembl chr13:74,976,730...74,987,127 		JBrowse link
G Nefh neurofilament heavy chain IEP protein:decreased expression:optic nerve: RGD PMID:28498493 RGD:27226819 NCBI chr14:79,830,362...79,840,347
Ensembl chr14:79,830,362...79,840,351 		JBrowse link
G Ngf nerve growth factor IEP protein:decreased expression:cerebrospinal fluid RGD PMID:18938194 RGD:2303806 NCBI chr 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452 		JBrowse link
G Ngfr nerve growth factor receptor IDA RGD PMID:20943663 RGD:5508695 NCBI chr10:80,515,287...80,533,518
Ensembl chr10:80,515,299...80,533,518 		JBrowse link
G Nmnat3 nicotinamide nucleotide adenylyltransferase 3 treatment IDA RGD PMID:24136224 RGD:13782046 NCBI chr 8:98,892,168...99,003,912
Ensembl chr 8:98,873,398...99,020,645 		JBrowse link
G Ntrk1 neurotrophic receptor tyrosine kinase 1 IEP
IDA		 mRNA,protein:decreased expression:eye RGD PMID:18817846 PMID:20943663 RGD:5684379, RGD:5508695 NCBI chr 2:173,236,961...173,253,806
Ensembl chr 2:173,236,963...173,253,770 		JBrowse link
G Ntrk2 neurotrophic receptor tyrosine kinase 2 IDA
IEP		 protein:increased expression:eye: RGD PMID:20357199 PMID:10711692 RGD:5684908, RGD:8655608 NCBI chr17:5,558,992...5,870,299
Ensembl chr17:5,559,043...5,869,136 		JBrowse link
G Opa1 OPA1, mitochondrial dynamin like GTPase treatment ISO RGD PMID:18936150 PMID:20664796 RGD:7800698, RGD:7800720 NCBI chr11:71,108,100...71,185,170
Ensembl chr11:71,109,873...71,185,109 		JBrowse link
G Optn optineurin susceptibility ISO DNA:SNP:intron: RGD PMID:16148883 RGD:7771548 NCBI chr17:73,209,572...73,260,251
Ensembl chr17:73,209,575...73,260,251 		JBrowse link
G Pbx1 PBX homeobox 1 ISO
IEP		 mRNA:increased expression:optic nerve head (human)
mRNA:increased expression:optic nerve head (rat)		 RGD PMID:28990066 PMID:28990066 RGD:155630605, RGD:155630605 NCBI chr13:80,278,766...80,588,563
Ensembl chr13:80,278,770...80,588,594 		JBrowse link
G Pitx2 paired-like homeodomain 2 ISS MouseDO NCBI chr 2:217,717,738...217,737,293
Ensembl chr 2:217,717,693...217,737,293 		JBrowse link
G Ptgs1 prostaglandin-endoperoxide synthase 1 ISO protein:increased expression:microglia RGD PMID:11391707 RGD:5688244 NCBI chr 3:19,584,015...19,605,589
Ensembl chr 3:19,584,015...19,605,586 		JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 treatment ISO
IMP
IEP		 protein:increased phosphorylation:retina
protein:increased expression,increased phosphorylation:retina		 RGD PMID:30341011 PMID:30341011 PMID:30341011 RGD:39456090, RGD:39456090, RGD:39456090 NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925 		JBrowse link
G Rftn1 raftlin lipid raft linker 1 ISO
IEP		 mRNA:increased expression:optic nerve head (human)
mRNA:increased expression:optic nerve head (rat)		 RGD PMID:28990066 PMID:28990066 RGD:155630605, RGD:155630605 NCBI chr 9:10,804,611...11,002,084
Ensembl chr 9:10,804,611...11,002,084 		JBrowse link
G RT1-Bb RT1 class II, locus Bb susceptibility ISO DNA:polymorphisms, haplotype:cds:HLA-DQB1*0302 (human) RGD PMID:10511023 RGD:7365116 NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597 		JBrowse link
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO DNA:Haplotype: :HLA-DRB1*0407(human) RGD PMID:10511023 RGD:7365116 NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258 		JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Glaucoma ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:84,292,578...84,423,824
Ensembl chr 1:84,292,578...84,423,812 		JBrowse link
G Selenbp1 selenium binding protein 1 ISO mRNA:increased expression:optic nerve head (human) RGD PMID:28990066 RGD:155630605 NCBI chr 2:182,494,004...182,504,594
Ensembl chr 2:182,493,978...182,504,594 		JBrowse link
G Serpine1 serpin family E member 1 ISO protein:increased expression:aqueous humor (human) RGD PMID:15710819 RGD:8547695 NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657 		JBrowse link
G Sh3pxd2b SH3 and PX domains 2B ISS MouseDO NCBI chr10:16,918,611...17,027,499
Ensembl chr10:16,918,679...17,005,170 		JBrowse link
G Slc4a4 solute carrier family 4 member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18614622 NCBI chr14:18,841,289...19,293,297
Ensembl chr14:18,845,159...19,272,883 		JBrowse link
G Sncg synuclein, gamma ISO
IEP		 mRNA, protein:decreased expression:optic nerve RGD PMID:18728752 PMID:11933054 RGD:6218971, RGD:6480100 NCBI chr16:9,700,513...9,705,751
Ensembl chr16:9,700,514...9,705,368 		JBrowse link
G Sqstm1 sequestosome 1 IEP protein:increased expression:optic nerve RGD PMID:24136224 RGD:13782046 NCBI chr10:34,525,517...34,536,670
Ensembl chr10:34,525,519...34,536,673 		JBrowse link
G Tdrd7 tudor domain containing 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21436445 NCBI chr 5:60,238,742...60,312,548
Ensembl chr 5:60,238,678...60,312,544 		JBrowse link
G Tgfb2 transforming growth factor, beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20375339 NCBI chr13:98,160,075...98,261,771
Ensembl chr13:98,160,087...98,261,405 		JBrowse link
G Tnf tumor necrosis factor IEP
ISO
IMP		 protein:increased expression:retina RGD PMID:20574020 PMID:17151265 PMID:22802951 PMID:20574020 RGD:7394760, RGD:7394785, RGD:7394770, RGD:7394760 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Txn1 thioredoxin 1 IEP protein:decreased expression:retinal ganglion cell RGD PMID:18701913 RGD:2306193 NCBI chr 5:72,712,334...72,724,564
Ensembl chr 5:72,711,933...72,724,629 		JBrowse link
G Txnip thioredoxin interacting protein IEP protein:increased expression:retinal ganglion cell RGD PMID:18701913 RGD:2306193 NCBI chr 2:184,093,079...184,096,882
Ensembl chr 2:184,092,991...184,096,886 		JBrowse link
G Vegfa vascular endothelial growth factor A IEP
IMP		 protein:increased expression:retina: RGD PMID:18728749 PMID:23416159 RGD:7421595, RGD:7421614 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641 		JBrowse link
G Wdr36 WD repeat domain 36 susceptibility ISO DNA:polymorphism:exon:rs10038177(human)
DNA:polymorphisms:cds:p.I264V,c.1965-30A>G(human)
DNA:haplotype::rs13153937, rs10038177, rs11241095 (human)		 RGD PMID:22025897 PMID:17960130 PMID:19347049 RGD:8548460, RGD:8548462, RGD:8548461 NCBI chr18:24,473,657...24,501,773
Ensembl chr18:24,473,663...24,508,092 		JBrowse link
G Zeb1 zinc finger E-box binding homeobox 1 ISO ClinVar Annotator: match by term: Glaucoma ClinVar PMID:25741868 NCBI chr17:51,948,948...52,116,018
Ensembl chr17:51,948,948...52,115,214 		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 chr 3:54,449,710...54,475,624
Ensembl chr 3:54,449,711...54,475,540 		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 chr13:74,976,730...74,987,128
Ensembl chr13:74,976,730...74,987,127 		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 chr17:73,209,572...73,260,251
Ensembl chr17:73,209,575...73,260,251 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Glaucoma 1, open angle, F		 OMIM
CTD
ClinVar		 PMID:10037570 PMID:22156576 PMID:25741868 PMID:28492532 NCBI chr 4:10,630,318...10,644,270
Ensembl chr 4:10,630,448...10,639,060 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Glaucoma 1, open angle, G | ClinVar Annotator: match by term: WDR36-related condition		 OMIM
CTD
ClinVar		 PMID:15677485 PMID:16723468 PMID:17353431 PMID:17563723 PMID:18172102 More... NCBI chr18:24,473,657...24,501,773
Ensembl chr18:24,473,663...24,508,092 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25741868 PMID:26162006 PMID:28492532 PMID:34923728 NCBI chr14:102,610,813...102,690,027
Ensembl chr14:102,610,908...102,690,018 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Glaucoma 1, open angle, O		 OMIM
CTD
ClinVar		 PMID:19765683 PMID:20215012 PMID:20463313 PMID:25741868 PMID:27535533 NCBI chr 1:95,893,560...95,896,391
Ensembl chr 1:95,893,457...95,897,243 		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 chr 7:57,077,830...57,110,868
Ensembl chr 7:57,077,830...57,110,892 		JBrowse link
Glaucoma 3, Primary Infantile, B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Primary congenital glaucoma type 3B		 CTD
ClinVar		 PMID:9097971 PMID:9463332 PMID:9497261 PMID:10227395 PMID:10426814 More... NCBI chr 6:15,342,312...15,350,886
Ensembl chr 6:15,342,344...15,350,917 		JBrowse link
G Ltbp2 latent transforming growth factor beta binding protein 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Glaucoma 3, primary infantile, B		 CTD
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19361779 PMID:22025892 More... NCBI chr 6:104,429,947...104,530,498
Ensembl chr 6:104,429,947...104,526,208 		JBrowse link
G Tek TEK receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:109,607,077...109,733,805
Ensembl chr 5:109,607,077...109,733,804 		JBrowse link
hydrophthalmos term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 ISO DNA:insertion, deletions:exons, intron:g.1209_1214insC, g.1410_1422del, g.1389-?-1422+?del (human) RGD PMID:9097971 RGD:1599716 NCBI chr 6:15,342,312...15,350,886
Ensembl chr 6:15,342,344...15,350,917 		JBrowse link
G Flt1 Fms related receptor tyrosine kinase 1 ISO RGD PMID:22426483 RGD:8549773 NCBI chr12:7,296,899...7,468,626
Ensembl chr12:7,297,292...7,468,626 		JBrowse link
G Kdr kinase insert domain receptor ISO RGD PMID:22426483 RGD:8549773 NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018 		JBrowse link
juvenile glaucoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 ISO ClinVar Annotator: match by term: Glaucoma of childhood ClinVar PMID:9497261 PMID:10227395 PMID:15342693 PMID:16735994 PMID:18227148 More... NCBI chr 6:15,342,312...15,350,886
Ensembl chr 6:15,342,344...15,350,917 		JBrowse link
G Efemp1 EGF containing fibulin extracellular matrix protein 1 ISO ClinVar Annotator: match by term: Glaucoma of childhood ClinVar PMID:28492532 PMID:34923728 NCBI chr14:102,610,813...102,690,027
Ensembl chr14:102,610,908...102,690,018 		JBrowse link
G Foxc1 forkhead box C1 ISO ClinVar Annotator: match by term: Glaucoma of childhood ClinVar PMID:32832252 NCBI chr17:32,631,379...32,635,361
Ensembl chr17:32,633,142...32,634,803 		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 chr 6:104,429,947...104,530,498
Ensembl chr 6:104,429,947...104,526,208 		JBrowse link
G Myoc myocilin susceptibility ISO CTD Direct Evidence: marker/mechanism
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:snp:cds:pD380A (human)
DNA:snp:cds:pC245Y (human)
DNA:nonsense mutation, missense mutation, snps:exon, intron, 3' utr:multiple (human)
DNA:missense mutations, nonsense mutation:cds:multiple (human)
DNA:snp:cds:p.D384N (human)
DNA:snp:cds:p.Y371D (human)
DNA:snp:cds:p.N450Y (human)
DNA:snp:cds:p.V251A (human)
DNA:insertion:cds:p.D395_E396insDP (human)
DNA:snps:cds:p.P370L, p.Y437H (human)
DNA:snp:cds:pT377R (human)		 OMIM
CTD
ClinVar
RGD		 PMID:3756132 PMID:6770678 PMID:8513321 PMID:9005853 PMID:9328473 More... RGD:7401248, RGD:7401247, RGD:7401192, RGD:7401186, RGD:7394848, RGD:7394834, RGD:7394828, RGD:7394800, RGD:7394798, RGD:7394788, RGD:7394787 NCBI chr13:74,976,730...74,987,128
Ensembl chr13:74,976,730...74,987,127 		JBrowse link
G Pax6 paired box 6 ISS MouseDO NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014 		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 chr 1:255,771,962...255,774,973
Ensembl chr 1:255,771,597...255,807,259 		JBrowse link
G Apoe apolipoprotein E susceptibility ISO DNA:polymorphism:exon: RGD PMID:16778644 RGD:7495800 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932 		JBrowse link
G Bdnf brain-derived neurotrophic factor ISO protein:increased expression:tear: RGD PMID:19861219 RGD:8655604 NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615 		JBrowse link
G Cav1 caveolin 1 no_association ISO DNA:SNP:promoter:rs4236601 (human) RGD PMID:23743525 RGD:8661774 NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705 		JBrowse link
G Cav2 caveolin 2 susceptibility ISO DNA:SNP: :rs1052990 (human) RGD PMID:23743525 RGD:8661774 NCBI chr 4:45,616,766...45,624,144
Ensembl chr 4:45,616,712...45,624,244 		JBrowse link
G Crp C-reactive protein no_association ISO protein:increased expression:plasma: RGD PMID:16148587 PMID:22966842 RGD:9491770, RGD:9491771 NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178 		JBrowse link
G Edn1 endothelin 1 ISO protein:increased expression:plasma (human) RGD PMID:21946544 RGD:8661736 NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885 		JBrowse link
G Hspd1 heat shock protein family D (Hsp60) member 1 IDA RGD PMID:20858111 RGD:10402863 NCBI chr 9:56,579,195...56,590,011
Ensembl chr 9:56,579,201...56,589,662 		JBrowse link
G Myoc myocilin susceptibility ISO DNA:Haplotype: : RGD PMID:16148883 RGD:7771548 NCBI chr13:74,976,730...74,987,128
Ensembl chr13:74,976,730...74,987,127 		JBrowse link
G Optn optineurin susceptibility ISO
ISS		 DNA:SNPs:exon,introns:
DNA:polymorphism:exon:p.M98K(human)
DNA:polymorphisms, haplotype:exons:c.412G>A,603T>A(human)		 MouseDO
RGD		 PMID:16148883 PMID:15226658 PMID:15557444 RGD:7771548, RGD:7775043, RGD:7775041 NCBI chr17:73,209,572...73,260,251
Ensembl chr17:73,209,575...73,260,251 		JBrowse link
G Slc1a1 solute carrier family 1 member 1 ISO
ISS		 CTD Direct Evidence: marker/mechanism CTD
MouseDO		 PMID:28703795 NCBI chr 1:226,549,932...226,631,925
Ensembl chr 1:226,549,842...226,630,402 		JBrowse link
G Slc1a3 solute carrier family 1 member 3 ISS OMIM:606657 MouseDO NCBI chr 2:57,755,495...57,830,605
Ensembl chr 2:57,755,497...57,830,605 		JBrowse link
G Sod1 superoxide dismutase 1 ISO
ISS		 protein:decreased expression:serum (human)
OMIM:606657		 MouseDO
RGD		 PMID:21421868 RGD:8655579 NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249 		JBrowse link
G Tlr4 toll-like receptor 4 susceptibility
no_association		 ISO DNA:polymorphism,haplotype:multiple:
DNA:polymorphisms:multiple:		 RGD PMID:22831837 PMID:21921986 RGD:7794768, RGD:7794769 NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628 		JBrowse link
G Tnf tumor necrosis factor ISO DNA:polymorphism, haplotype:promoter: -863C>A (human) RGD PMID:15557444 RGD:7775041 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Tp53 tumor protein p53 susceptibility ISO DNA:polymorphism:cds:p.R72P(rs1042522)(human) RGD PMID:20357201 RGD:7387247 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524 		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 DNA:frameshift mutation:CDS:p.H1816PfsX28 (human)
ClinVar Annotator: match by term: Microspherophakia		 ClinVar
RGD		 PMID:19361779 PMID:19656777 PMID:20179738 PMID:20617341 PMID:21081970 More... RGD:156451653 NCBI chr 6:104,429,947...104,530,498
Ensembl chr 6:104,429,947...104,526,208 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:19361779 PMID:19656777 PMID:20179738 PMID:21081970 PMID:22025892 More... NCBI chr 6:104,429,947...104,530,498
Ensembl chr 6:104,429,947...104,526,208 		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 chr 1:206,854,175...206,886,276
Ensembl chr 1:206,854,175...206,886,157 		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 chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885 		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 chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178 		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 chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641 		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 DNA:polymorphism:intron:IVS8+32T>C (human)
ClinVar Annotator: match by term: GLAUCOMA, NORMAL PRESSURE, SUSCEPTIBILITY TO
CTD Direct Evidence: marker/mechanism
DNA:splice-site mutations, deletion, missense mutation:introns, exon:multiple
DNA:polymorphism:intron:IVS8+4C>T (human)
DNA:SNPs, haplotype:intron:IVS8+4C>T, IVS8+32T>C (human)		 OMIM
ClinVar
CTD
RGD		 PMID:9490303 PMID:9917792 PMID:11017079 PMID:11440988 PMID:11440989 More... RGD:7800685, RGD:7800712, RGD:7800710, RGD:7800687 NCBI chr11:71,108,100...71,185,170
Ensembl chr11:71,109,873...71,185,109 		JBrowse link
G Optn optineurin susceptibility ISO ClinVar Annotator: match by term: Glaucoma, normal tension, susceptibility to
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:11834836 PMID:11978762 PMID:12208142 PMID:15761120 PMID:16619239 More... NCBI chr17:73,209,572...73,260,251
Ensembl chr17:73,209,575...73,260,251 		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 chr18:55,642,459...55,644,501
Ensembl chr18:55,502,903...55,644,512 		JBrowse link
G Afap1 actin filament associated protein 1 susceptibility ISO DNA:SNPs: :rs4619890,rs4478172(human) RGD PMID:25173105 RGD:13673886 NCBI chr14:74,743,322...74,856,300
Ensembl chr14:74,743,320...74,856,263 		JBrowse link
G Apoc3 apolipoprotein C3 ISO protein:increased expression: aqueous humor: RGD PMID:23860758 RGD:10054092 NCBI chr 8:46,531,478...46,533,658
Ensembl chr 8:46,531,478...46,533,583 		JBrowse link
G Apoe apolipoprotein E susceptibility ISO RGD PMID:16110302 RGD:7495786 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932 		JBrowse link
G Atxn2 ataxin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26752265 NCBI chr12:34,754,132...34,851,175
Ensembl chr12:34,754,137...34,851,479 		JBrowse link
G Cav1 caveolin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20835238 NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705 		JBrowse link
G Cav2 caveolin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20835238 NCBI chr 4:45,616,766...45,624,144
Ensembl chr 4:45,616,712...45,624,244 		JBrowse link
G Cdkn2b cyclin-dependent kinase inhibitor 2B disease_progression ISO DNA:SNP: :rs1063192 (human) RGD PMID:22840486 RGD:8548689 NCBI chr 5:104,009,839...104,019,082
Ensembl chr 5:104,010,680...104,019,050 		JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO RGD PMID:15161848 RGD:8552673 NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624 		JBrowse link
G Fndc3b fibronectin type III domain containing 3B ISO CTD Direct Evidence: marker/mechanism CTD PMID:23291589 NCBI chr 2:110,311,439...110,617,504
Ensembl chr 2:110,312,694...110,547,830 		JBrowse link
G Foxc1 forkhead box C1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26752265 NCBI chr17:32,631,379...32,635,361
Ensembl chr17:32,633,142...32,634,803 		JBrowse link
G Gmds GDP-mannose 4, 6-dehydratase susceptibility ISO DNA:SNPs: :rs11969985,rs2761233(human) RGD PMID:25173105 RGD:13673886 NCBI chr17:32,095,315...32,621,975
Ensembl chr17:32,095,386...32,621,961 		JBrowse link
G Il10 interleukin 10 ISO RGD PMID:23788371 RGD:7364852 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313 		JBrowse link
G Il2 interleukin 2 ISO protein:decreased expression:aqueous humor RGD PMID:21834929 RGD:5147910 NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566 		JBrowse link
G Meis2 Meis homeobox 2 susceptibility ISO DNA:SNP::rs28480457(human) RGD PMID:29452408 RGD:155630591 NCBI chr 3:102,742,904...102,944,833
Ensembl chr 3:102,742,900...102,949,696 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility
no_association		 ISO DNA:SNP: :677C>T(human)
DNA:SNPs: : 677C>T, 1298A>C (human)		 RGD PMID:15808177 PMID:17558844 RGD:7387252, RGD:7387254 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797 		JBrowse link
G Myoc myocilin ISO
ISS		 DNA:missense mutation:cds:p.K423E (human)
OMIM:137750 | OMIM:177700 | OMIM:602429 | OMIM:603383 | OMIM:606689 | OMIM:608695 | OMIM:608696 | OMIM:609745 | OMIM:609887 | OMIM:610535 | OMIM:611274 | OMIM:611276 | OMIM:613100
ClinVar Annotator: match by term: Open-angle glaucoma
CTD Direct Evidence: marker/mechanism		 MouseDO
ClinVar
CTD
RGD		 PMID:9535666 PMID:9772276 PMID:10196380 PMID:11004290 PMID:11133859 More... RGD:7401194 NCBI chr13:74,976,730...74,987,128
Ensembl chr13:74,976,730...74,987,127 		JBrowse link
G Optn optineurin no_association ISO CTD Direct Evidence: marker/mechanism
DNA:missense mutations, SNP: :multiple
DNA:polymorphism: :p.M98K (human)		 CTD
RGD		 PMID:21059646 PMID:25096716 PMID:11834836 PMID:19096531 PMID:14627677 More... RGD:1600995, RGD:6480513, RGD:6480510, RGD:6480509 NCBI chr17:73,209,572...73,260,251
Ensembl chr17:73,209,575...73,260,251 		JBrowse link
G Pon1 paraoxonase 1 ISO DNA:missense mutations:cds:p.L55M, p.Q192R (human) RGD PMID:16411107 RGD:8547552 NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16330497 NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188 		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 chr20:4,656,262...4,666,634
Ensembl chr20:4,656,263...4,666,901 		JBrowse link
G Tmco1 transmembrane and coiled-coil domains 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21532571 NCBI chr13:79,460,229...79,483,557
Ensembl chr13:79,460,135...79,483,555 		JBrowse link
G Tnf tumor necrosis factor susceptibility ISO DNA:SNP: :-308G>A(rs1800629)(human) RGD PMID:20357201 RGD:7387247 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Txnrd2 thioredoxin reductase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26752265 NCBI chr11:82,519,996...82,568,156
Ensembl chr11:82,519,999...82,568,156 		JBrowse link
G Wdr36 WD repeat domain 36 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21059646 NCBI chr18:24,473,657...24,501,773
Ensembl chr18:24,473,663...24,508,092 		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 ISS OMIM:600510 MouseDO NCBI chr20:11,474,104...11,582,593
Ensembl chr20:11,474,104...11,582,593 		JBrowse link
G Gpnmb glycoprotein nmb ISS OMIM:600510 MouseDO NCBI chr 4:78,010,247...78,031,491
Ensembl chr 4:78,010,197...78,049,367 		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 chr 3:42,978,558...43,097,892
Ensembl chr 3:42,978,561...43,098,241 		JBrowse link
G Anapc2 anaphase promoting complex subunit 2 ISO protein:increased expression:aqueous humor of eyeball (human) RGD PMID:29332228 RGD:14696671 NCBI chr 3:8,086,434...8,098,182
Ensembl chr 3:8,086,462...8,098,178 		JBrowse link
G Col18a1 collagen type XVIII alpha 1 chain ISO OMIM NCBI chr20:11,474,104...11,582,593
Ensembl chr20:11,474,104...11,582,593 		JBrowse link
G Myrf myelin regulatory factor ISO DNA:mutations:multiple: RGD PMID:36129575 RGD:199225554 NCBI chr 1:206,854,175...206,886,276
Ensembl chr 1:206,854,175...206,886,157 		JBrowse link
primary congenital glaucoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 ISO ClinVar Annotator: match by term: Primary congenital glaucoma ClinVar PMID:9463332 PMID:9497261 PMID:10227395 PMID:10655546 PMID:11184479 More... NCBI chr 6:15,342,312...15,350,886
Ensembl chr 6:15,342,344...15,350,917 		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 chr 6:104,429,947...104,530,498
Ensembl chr 6:104,429,947...104,526,208 		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
CTD Direct Evidence: marker/mechanism
DNA:frameshift mutations, nonsense mutations:CDS:multiple (human)
DNA:nonsense mutation:CDS:p.W807X (human)
DNA:missense mutations, frameshift mutation:CDS:p.D1010N, p.C1757Y, p.Q1143fs*35 (human)
DNA:frameshift mutations:CDS:p.S472fsX3, p.Y1793fsX55 (human)		 OMIM
ClinVar
CTD
RGD		 PMID:9536098 PMID:17576681 PMID:19361779 PMID:19656777 PMID:20179738 More... RGD:156451378, RGD:156451372, RGD:156431215, RGD:156431212 NCBI chr 6:104,429,947...104,530,498
Ensembl chr 6:104,429,947...104,526,208 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Glaucoma 3, primary congenital, E | ClinVar Annotator: match by term: TEK-related condition		 OMIM
CTD
ClinVar		 PMID:25741868 PMID:27270174 PMID:28492532 NCBI chr 5:109,607,077...109,733,805
Ensembl chr 5:109,607,077...109,733,804 		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 chr 3:42,978,558...43,097,892
Ensembl chr 3:42,978,561...43,098,241 		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 chr 7:14,331,659...14,361,620
Ensembl chr 7:14,331,745...14,361,620 		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 chr 1:120,445,800...120,768,204
Ensembl chr 1:120,445,749...120,768,202 		JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing ISO DNA:SNP: :rs2241766 (human) RGD PMID:22553514 RGD:8547563 NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564 		JBrowse link
G Adrb2 adrenoceptor beta 2 onset ISO DNA:polymprphism:cds:p.R16G(human) RGD PMID:16785856 RGD:8548468 NCBI chr18:55,642,459...55,644,501
Ensembl chr18:55,502,903...55,644,512 		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 chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932 		JBrowse link
G Bdnf brain-derived neurotrophic factor ISO protein:decreased expression:serum: RGD PMID:21076359 RGD:8655612 NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615 		JBrowse link
G Camk1d calcium/calmodulin-dependent protein kinase ID ISO ClinVar Annotator: match by term: Primary open angle glaucoma ClinVar PMID:28492532 NCBI chr17:72,581,899...72,982,704
Ensembl chr17:72,581,979...72,980,556 		JBrowse link
G Card10 caspase recruitment domain family, member 10 ISO ClinVar Annotator: match by term: Primary open angle glaucoma ClinVar PMID:27896285 NCBI chr 7:110,330,460...110,371,551
Ensembl chr 7:110,330,408...110,359,224 		JBrowse link
G Cav1 caveolin 1 no_association ISO DNA:SNPs: :multiple
DNA:SNP:promoter:rs4236601 (human)		 RGD PMID:24572674 PMID:20835238 PMID:22876122 RGD:8661770, RGD:8661783, RGD:8661776 NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705 		JBrowse link
G Cav2 caveolin 2 ISO DNA:SNPs: :rs10278782, rs1052990 (human) RGD PMID:24572674 RGD:8661770 NCBI chr 4:45,616,766...45,624,144
Ensembl chr 4:45,616,712...45,624,244 		JBrowse link
G Ccdc3 coiled-coil domain containing 3 ISO ClinVar Annotator: match by term: Primary open angle glaucoma ClinVar PMID:28492532 NCBI chr17:73,031,891...73,135,173
Ensembl chr17:73,035,045...73,135,337 		JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A susceptibility
no_association		 ISO DNA:polymorphism:cds:p.S31R(human) RGD PMID:14738489 PMID:15807891 RGD:8661807, RGD:8661806 NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585 		JBrowse link
G Col6a3 collagen type VI alpha 3 chain ISO DNA:SNP:CDS:D563, rs112913396 (human) RGD PMID:34143713 RGD:401851036 NCBI chr 9:91,361,578...91,439,434
Ensembl chr 9:91,361,583...91,439,471 		JBrowse link
G Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 susceptibility
severity		 ISO DNA:snp:cds:p.L432V (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.N453S (human)		 ClinVar
RGD		 PMID:10655546 PMID:15342693 PMID:18470941 PMID:19234632 PMID:22004014 More... RGD:7800658, RGD:7800696, RGD:7800695, RGD:7800664 NCBI chr 6:15,342,312...15,350,886
Ensembl chr 6:15,342,344...15,350,917 		JBrowse link
G Edn1 endothelin 1 ISO protein:increased expression:plasma (human) RGD PMID:22406080 RGD:8661676 NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885 		JBrowse link
G Eln elastin ISO RGD PMID:1526740 RGD:9585735 NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928 		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 chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919 		JBrowse link
G Glul glutamate-ammonia ligase ISO protein:increases expression:aqueous humor RGD PMID:22974818 RGD:401794589 NCBI chr13:65,969,053...66,035,121
Ensembl chr13:66,025,630...66,035,108 		JBrowse link
G Gstm1 glutathione S-transferase mu 1 susceptibility
no_association		 ISO DNA:deletion:cds (human) RGD PMID:11040079 PMID:12873455 RGD:7488947, RGD:7488948 NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411 		JBrowse link
G Gstt1 glutathione S-transferase theta 1 susceptibility
no_association		 ISO DNA:deletion, haplotype:cds (human)
DNA:deletion:cds (human)		 RGD PMID:23747403 PMID:23206929 PMID:23827458 RGD:7794820, RGD:7794825, RGD:7794823 NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585 		JBrowse link
G Gucy1a1 guanylate cyclase 1 soluble subunit alpha 1 ISS OMIM:137760 MouseDO NCBI chr 2:167,418,615...167,482,293
Ensembl chr 2:167,418,640...167,481,671 		JBrowse link
G Lamb2 laminin subunit beta 2 ISO DNA:SNP:CDS:E987K, rs34759087 (human) RGD PMID:34143713 RGD:401851036 NCBI chr 8:109,178,367...109,190,552
Ensembl chr 8:109,178,409...109,190,549 		JBrowse link
G Loxl1 lysyl oxidase-like 1 no_association ISO DNA:SNP, haplotype: :rs1048661, rs2165241, rs3825942 (human)
DNA:SNPs: :rs1048661, rs2165241, rs3825942 (human)		 RGD PMID:19098994 PMID:18223248 RGD:7387330, RGD:7394723 NCBI chr 8:58,691,763...58,716,365
Ensembl chr 8:58,692,593...58,716,356 		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 chr 6:104,429,947...104,530,498
Ensembl chr 6:104,429,947...104,526,208 		JBrowse link
G Mbl2 mannose binding lectin 2 ISO protein:increased expression:serum: RGD PMID:22335808 RGD:8693705 NCBI chr 1:228,016,439...228,024,736 JBrowse link
G Mcm10 minichromosome maintenance 10 replication initiation factor ISO ClinVar Annotator: match by term: Primary open angle glaucoma ClinVar PMID:28492532 NCBI chr17:73,263,788...73,288,346
Ensembl chr17:73,266,095...73,287,364 		JBrowse link
G Mmp1 matrix metallopeptidase 1 no_association ISO DNA:SNP:promoter:rs1799750 (human)
DNA:insertion:promoter:g.-1607insG rs1799750 (human)		 RGD PMID:23441116 PMID:20808730 RGD:8549724, RGD:8549725 NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097 		JBrowse link
G Mmp9 matrix metallopeptidase 9 no_association ISO DNA:insertion: :p.Q279R (rs17576) (human) RGD PMID:20808730 RGD:8549725 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Myoc myocilin severity
no_association
susceptibility		 ISO DNA:snp:promoter:g.-1000C>G (human)
ClinVar Annotator: match by term: Primary open angle glaucoma
protein:increased expression:aqueous humor
DNA:snps:cds:p.A363T (human)
DNA:snp:cds:pT377M (human)
DNA:snps:cds:multiple (human)
DNA:snps:promoter:g.-126T>G, g.-78T>G, g.-77G>A (human)
DNA:snp:cds:p.G367R (human)
DNA:snps, deletion:cds:p.G326S, p.T286R, p.Y453MfsX11 (human)
DNA:snp:cds:p.G252R (human)
DNA:snps:cds:p.G12R, p.V53A, p.T353I (human)
DNA:snp:cds:p.Q48H (human)
DNA:silent mutation, deletion:cds:p.F336F, c.1084delG (human)
DNA:mutations:multiple (human)
DNA:snps:cds:p.T209N, p.L215Q (human)
Y437H;human gene in mouse model
DNA:snps:cds:p.G357V, p.Q361X, p.Y430H (human)		 ClinVar
RGD		 PMID:9005853 PMID:9639450 PMID:10815160 PMID:11004290 PMID:11292420 More... RGD:1600842, RGD:7401171, RGD:7401254, RGD:7401251, RGD:7401245, RGD:7401240, RGD:7401189, RGD:7401175, RGD:7401170, RGD:7401168, RGD:7401164, RGD:7401163, RGD:7394843, RGD:7394841, RGD:7394816, RGD:7394814, RGD:7394801, RGD:7394792, RGD:7394791, RGD:7394789, RGD:1600838, RGD:1600840 NCBI chr13:74,976,730...74,987,128
Ensembl chr13:74,976,730...74,987,127 		JBrowse link
G Nos3 nitric oxide synthase 3 susceptibility
no_association		 ISO associated with Hypertension;DNA:snp:promoter:g.-786T>C (rs2070744) (human)
DNA:snps, haplotype:promoter, cds:g.-786T>C, p.E298D (human)
DNA:snp:intron:g.IVS15+1759C>A (rs3918188) (human)
DNA:snps, haplotype:promoter, intron:g.-457C>T, g.IVS5+1182G>A (rs11771443, rs3793342) (human)
DNA:snp:promoter:g.-690C>T (human)
DNA:duplication:intron:IVS4?-?+27 (human)
High Tension;DNA:snps:promoter, intron:g.-786T>C, g.IVS15+1759C>A (rs3918188) (human)		 RGD PMID:21670344 PMID:22561696 PMID:21245953 PMID:21245953 PMID:9493554 More... RGD:7771542, RGD:7775055, RGD:7775039, RGD:7775039, RGD:7771575, RGD:7771573, RGD:7771543 NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166 		JBrowse link
G Ogg1 8-oxoguanine DNA glycosylase ISO DNA:SNP: :p.S326C (human) RGD PMID:23499241 RGD:8657152 NCBI chr 4:146,474,701...146,481,959
Ensembl chr 4:146,474,750...146,484,766 		JBrowse link
G Opa1 OPA1, mitochondrial dynamin like GTPase no_association ISO DNA:polymorphism:intron:IVS8+4C>T (human)
DNA:SNPs: :rs166850, rs10451941 (human)
mRNA:decreased expression:blood, leukocyte
DNA:SNPs:exons, introns:multiple		 RGD PMID:17188046 PMID:18079692 PMID:21552501 PMID:16785854 RGD:7800685, RGD:7800721, RGD:7800718, RGD:7800713 NCBI chr11:71,108,100...71,185,170
Ensembl chr11:71,109,873...71,185,109 		JBrowse link
G Optn optineurin susceptibility
no_association		 ISO DNA:polymorphisms, haplotype:exons:c.412G>A,603T>A(human)
ClinVar Annotator: match by term: Primary open angle glaucoma
DNA:SNPs:cds:p.T34T,E50K,M98K,R545Q, 691_692insAG,
DNA:polymorphism:exon:p.M98K(human)		 OMIM
ClinVar
RGD		 PMID:9536098 PMID:11834836 PMID:11978762 PMID:12208142 PMID:12789137 More... RGD:7775041, RGD:7775049, RGD:7775043 NCBI chr17:73,209,572...73,260,251
Ensembl chr17:73,209,575...73,260,251 		JBrowse link
G Pon1 paraoxonase 1 susceptibility ISO DNA:snp:cds:p.Q192R (rs662) (human) RGD PMID:22553514 RGD:8547563 NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360 		JBrowse link
G Sod2 superoxide dismutase 2 susceptibility ISO DNA:polymorphism: :rs2842980(human) RGD PMID:23638916 RGD:8158079 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189 		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 chr 7:57,077,830...57,110,868
Ensembl chr 7:57,077,830...57,110,892 		JBrowse link
G Thbs1 thrombospondin 1 ISO DNA:SNP:CDS:N700S, rs2228262 (human) RGD PMID:34143713 RGD:401851036 NCBI chr 3:105,056,293...105,071,445
Ensembl chr 3:105,056,292...105,071,440 		JBrowse link
G Tlr4 toll-like receptor 4 susceptibility ISO DNA:polymorphism,haplotype:multiple: RGD PMID:22831837 RGD:7794768 NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628 		JBrowse link
G Tnf tumor necrosis factor ISO DNA:polymorphisms, haplotype:promoter:-857C>T, -863C>A (human) RGD PMID:15557444 RGD:7775041 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Tp53 tumor protein p53 susceptibility ISO DNA:polymorphism:cds:p.R72P(human) RGD PMID:23049825 RGD:8547822 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
G Wdr36 WD repeat domain 36 no_association
susceptibility		 ISO ClinVar Annotator: match by term: Primary open angle glaucoma
DNA:polymorphism:cds:p.D658G
DNA:polymorphisms:cds:p.D658G, N355S, A449T and R529Q (human)		 ClinVar
RGD		 PMID:25741868 PMID:28492532 PMID:16723468 PMID:16876519 PMID:15677485 RGD:8548463, RGD:8548466, RGD:8548465 NCBI chr18:24,473,657...24,501,773
Ensembl chr18:24,473,663...24,508,092 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: RTA, PROXIMAL, AUTOSOMAL RECESSIVE		 OMIM
CTD
ClinVar		 PMID:10545938 PMID:11274232 PMID:18658147 PMID:20197274 PMID:21234596 More... NCBI chr14:18,841,289...19,293,297
Ensembl chr14:18,845,159...19,272,883 		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 chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    sensory system disease 7022
      eye disease 3492
        ocular hypertension 186
          glaucoma + 170
Path 2
Term Annotations click to browse term
  disease 18976
    disease of anatomical entity 18260
      cardiovascular system disease 5412
        vascular disease 4014
          artery disease 2826
            hypertension 1729
              ocular hypertension 186
                glaucoma + 170
paths to the root