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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:A condition in which the intraocular pressure is elevated above normal and which may lead to glaucoma.
Synonyms:exact_synonym: Ocular Hypertensions;   Suspect Glaucoma;   Suspect Glaucomas
 primary_id: MESH:D009798;   RDO:0005675
 xref: ICD10CM:H40.05;   ICD9CM:365.04;   NCI:C3285
For additional species annotation, visit the Alliance of Genome Resources.

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 1:189,514,504...189,541,233
Ensembl chr 1:189,514,553...189,541,224 		JBrowse link
G Apoa1 apolipoprotein A1 IEP protein:increased expression:retina RGD PMID:18626730 RGD:2303613 NCBI chr 8:50,525,091...50,526,875
Ensembl chr 8:50,525,091...50,526,875 		JBrowse link
G Aqp4 aquaporin 4 ISO RGD PMID:22943863 RGD:8698651 NCBI chr18:6,766,009...6,782,757
Ensembl chr18:6,765,945...6,782,996 		JBrowse link
G Bcl2l1 Bcl2-like 1 IEP mRNA:increased expression:retina RGD PMID:17640403 RGD:1643493 NCBI chr 3:148,259,594...148,314,191
Ensembl chr 3:148,259,596...148,313,810 		JBrowse link
G Bmp4 bone morphogenetic protein 4 ISO RGD PMID:11722794 RGD:8698668 NCBI chr15:20,776,060...20,791,013
Ensembl chr15:20,776,054...20,822,740 		JBrowse link
G C1qb complement C1q B chain IEP mRNA:increased expression:retina RGD PMID:16677633 RGD:1599509 NCBI chr 5:155,246,444...155,251,995
Ensembl chr 5:155,246,447...155,252,003 		JBrowse link
G C3 complement C3 IEP mRNA, protein:increased expression:retina RGD PMID:16677633 RGD:1599509 NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167 		JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A ISO RGD PMID:14985792 RGD:8661805 NCBI chr20:6,348,422...6,358,864
Ensembl chr20:6,351,458...6,358,864 		JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO RGD PMID:19797236 RGD:8552669 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789 		JBrowse link
G Cryaa crystallin, alpha A IEP protein:decreased expression:retina RGD PMID:18626730 RGD:2303613 NCBI chr20:10,438,444...10,442,189
Ensembl chr20:10,438,444...10,442,187 		JBrowse link
G Cryba1 crystallin, beta A1 IEP mRNA:decreased expression:retina RGD PMID:17102796 RGD:1601004 NCBI chr10:65,160,777...65,167,504
Ensembl chr10:65,161,152...65,167,494 		JBrowse link
G Ddit3 DNA-damage inducible transcript 3 ISO CTD Direct Evidence: therapeutic CTD PMID:24691439 NCBI chr 7:70,578,564...70,585,074
Ensembl chr 7:70,580,198...70,585,084 		JBrowse link
G Fas Fas cell surface death receptor IEP protein:increased expression:retina, microglial cell RGD PMID:17045251 RGD:1600312 NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790 		JBrowse link
G Gli1 GLI family zinc finger 1 IEP mRNA, protein:increased expression:retinal ganglion cell RGD PMID:20071678 RGD:2324982 NCBI chr 7:70,620,794...70,633,171
Ensembl chr 7:70,620,766...70,630,338 		JBrowse link
G Mmp1 matrix metallopeptidase 1 treatment ISO CTD Direct Evidence: therapeutic CTD PMID:20089869, PMID:20089869 RGD:8549723 NCBI chr 8:5,703,206...5,723,593
Ensembl chr 8:5,703,206...5,723,591 		JBrowse link
G Mmp2 matrix metallopeptidase 2 IEP mRNA, protein:increased expression:eye RGD PMID:19575923 RGD:2325732 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611 		JBrowse link
G Mmp9 matrix metallopeptidase 9 IEP mRNA, protein:increased expression:eye RGD PMID:19575923 RGD:2325732 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520 		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 chr13:80,517,531...80,527,928
Ensembl chr13:80,517,536...80,527,928 		JBrowse link
G Nr3c1 nuclear receptor subfamily 3, group C, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17563720 NCBI chr18:31,728,373...32,704,022
Ensembl chr18:31,728,373...31,749,647 		JBrowse link
G Opa1 OPA1, mitochondrial dynamin like GTPase IEP mRNA, protein:increased expression:retina RGD PMID:21220562 RGD:7800684 NCBI chr11:74,717,600...74,793,902
Ensembl chr11:74,720,254...74,793,803 		JBrowse link
G Shh sonic hedgehog signaling molecule IEP RGD PMID:20071678 RGD:2324982 NCBI chr 4:718,538...727,691
Ensembl chr 4:718,538...727,691 		JBrowse link
G Smo smoothened, frizzled class receptor IEP mRNA, protein:increased expression:retinal ganglion cell RGD PMID:20071678 RGD:2324982 NCBI chr 4:57,019,941...57,041,779
Ensembl chr 4:57,019,941...57,042,770 		JBrowse link
G Sod1 superoxide dismutase 1 IEP protein:decreased expression:retina RGD PMID:18626730 RGD:2303613 NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862 		JBrowse link
G Tpi1 triosephosphate isomerase 1 IEP protein:decreased expression:retina RGD PMID:18626730 RGD:2303613 NCBI chr 4:157,328,375...157,331,905
Ensembl chr 4:157,328,379...157,331,905 		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 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057 		JBrowse link
G Cat catalase severity ISO DNA:SNP:promoter:g.4760C>T(rs1001179)(human) RGD PMID:23961996 RGD:9068947 NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058 		JBrowse link
G Chat choline O-acetyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:27064256 NCBI chr16:8,576,858...8,686,131
Ensembl chr16:8,577,840...8,686,131 		JBrowse link
G Col11a1 collagen type XI alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:22922875 PMID:27064256 NCBI chr 2:216,863,423...217,056,523
Ensembl chr 2:216,863,428...217,056,523 		JBrowse link
G Col18a1 collagen type XVIII alpha 1 chain ISO ClinVar Annotator: match by term: GLAUCOMA, PRIMARY CLOSED-ANGLE ClinVar PMID:30007336 NCBI chr20:12,225,202...12,332,858
Ensembl chr20:12,225,202...12,332,858 		JBrowse link
G Edn1 endothelin 1 ISO protein:increased expression:plasma (human) RGD PMID:21946544 RGD:8661736 NCBI chr17:22,136,814...22,143,745
Ensembl chr17:22,137,324...22,143,324 		JBrowse link
G Epdr1 ependymin related 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27064256 NCBI chr17:47,397,558...47,422,183
Ensembl chr17:47,397,558...47,422,182 		JBrowse link
G Fermt2 fermitin family member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27064256 NCBI chr15:19,807,806...19,876,557
Ensembl chr15:19,807,808...19,876,408 		JBrowse link
G Glis3 GLIS family zinc finger 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27064256 NCBI chr 1:246,380,816...246,564,385
Ensembl chr 1:246,380,889...246,785,360 		JBrowse link
G Gstm1 glutathione S-transferase mu 1 susceptibility ISO DNA:deletion, haplotype:cds (human) RGD PMID:18334963 RGD:7488955 NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306 		JBrowse link
G Hgf hepatocyte growth factor susceptibility ISO DNA:SNPs,haplotype::rs5745718,rs1742817(human) RGD PMID:23585864 RGD:8548548 NCBI chr 4:15,435,460...15,505,377
Ensembl chr 4:15,433,295...15,505,362 		JBrowse link
G Loxl1 lysyl oxidase-like 1 no_association ISO DNA:SNPs: :rs1048661, rs2165241, rs3825942 (human) RGD PMID:18223248 RGD:7394723 NCBI chr 8:63,067,757...63,092,124
Ensembl chr 8:63,067,300...63,092,009 		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 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:SNPs: :677C>T,1298A>C(human) RGD PMID:19936026 RGD:7387250 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910 		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 1:214,725,482...214,756,653 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 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410 		JBrowse link
G Plekha7 pleckstrin homology domain containing A7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22922875 PMID:27064256 NCBI chr 1:185,427,600...185,493,985
Ensembl chr 1:185,356,975...185,538,694 		JBrowse link
G Prss56 serine protease 56 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21532570 NCBI chr 9:94,278,981...94,284,111
Ensembl chr 9:94,279,155...94,283,919 		JBrowse link
G Tfap2b transcription factor AP-2 beta ISS MouseDO NCBI chr 9:25,410,669...25,440,568
Ensembl chr 9:25,410,669...25,440,411 		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: Iridogoniodysgenesis type1
ClinVar Annotator: match by OMIM:601631		 OMIM
ClinVar		 PMID:9620769 PMID:9792859 PMID:11007653 PMID:11170889 PMID:12036988 PMID:19668217 PMID:19793056 PMID:25741868 PMID:28492532 PMID:32832252 NCBI chr17:33,947,501...33,951,484
Ensembl chr17:33,947,506...33,951,484 		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
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 4
ClinVar Annotator: match by term: Iridogoniodysgenesis, dominant type
ClinVar Annotator: match by OMIM:137600		 OMIM
ClinVar
CTD		 PMID:7581385 PMID:8942889 PMID:9437321 PMID:9618168 PMID:10502778 PMID:25741868 PMID:28492532 PMID:32499604 NCBI chr 2:233,602,732...233,621,059
Ensembl chr 2:233,602,732...233,621,129 		JBrowse link
buphthalmos 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 susceptibility ISO ClinVar Annotator: match by term: Glaucoma 3, primary congenital, A
ClinVar Annotator: match by term: Glaucoma, congenital
ClinVar Annotator: match by term: Glaucoma, primary open angle, juvenile-onset
ClinVar Annotator: match by term: Congenital glaucoma
ClinVar Annotator: match by OMIM:231300
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		 PMID:9097971 PMID:9463332 PMID:9497261 PMID:10227395 PMID:10426814 PMID:10655546 PMID:10739169 PMID:10910054 PMID:11403040 PMID:11527932 PMID:11558822 PMID:11774072 PMID:11854439 PMID:11980847 PMID:12036985 PMID:12372064 PMID:14507861 PMID:15037581 PMID:15255109 PMID:15342693 PMID:16384942 PMID:16688110 PMID:16735991 PMID:16735994 PMID:16862072 PMID:17164573 PMID:17363580 PMID:17563717 PMID:17591938 PMID:17718864 PMID:17893647 PMID:18227148 PMID:18414103 PMID:18470941 PMID:18537981 PMID:18622259 PMID:18852424 PMID:19204079 PMID:19234632 PMID:19236111 PMID:19247456 PMID:19536304 PMID:19597567 PMID:19643970 PMID:19744731 PMID:19793111 PMID:19807744 PMID:20151268 PMID:20198978 PMID:20664688 PMID:21081970 PMID:21168818 PMID:21600657 PMID:21815720 PMID:21850185 PMID:21854771 PMID:22004014 PMID:22128238 PMID:22942166 PMID:23028769 PMID:23218183 PMID:23218701 PMID:23922489 PMID:24033266 PMID:24123366 PMID:24281366 PMID:24940937 PMID:25091052 PMID:25109919 PMID:25333069 PMID:25527694 PMID:25646030 PMID:25741868 PMID:25950505 PMID:25978063 PMID:26550974 PMID:27060699 PMID:27243976 PMID:27272408 PMID:27408750 PMID:27508083 PMID:27535533 PMID:27777502 PMID:27820421 PMID:28192799 PMID:28384041 PMID:28448622 PMID:28492532 PMID:28620713 PMID:29556725 PMID:30311386 PMID:32499604 PMID:32832252 PMID:32860008 PMID:94927261, PMID:16490498, PMID:19247456, PMID:12567107, PMID:19597567, PMID:19593207, PMID:20664688, PMID:10227395, PMID:23922489, PMID:12624268 RGD:7800719, RGD:7800711, RGD:7800707, RGD:7800689, RGD:7800688, RGD:7800680, RGD:7800670, RGD:7800657, RGD:734869 NCBI chr 6:2,308,179...2,316,739
Ensembl chr 6:2,307,808...2,316,722 		JBrowse link
G Foxc1 forkhead box C1 ISS
ISO		 OMIM:231300
ClinVar Annotator: match by term: Congenital glaucoma		 MouseDO
ClinVar		 PMID:32832252 NCBI chr17:33,947,501...33,951,484
Ensembl chr17:33,947,506...33,951,484 		JBrowse link
G Ltbp2 latent transforming growth factor beta binding protein 2 ISO ClinVar Annotator: match by term: Glaucoma, congenital
ClinVar Annotator: match by term: Congenital glaucoma		 ClinVar PMID:19656777 PMID:24033266 NCBI chr 6:108,500,114...108,596,653
Ensembl chr 6:108,500,112...108,596,569 		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 PMID:17563717 PMID:22194650 PMID:22736945 NCBI chr13:80,517,531...80,527,928
Ensembl chr13:80,517,536...80,527,928 		JBrowse link
G Rmdn2 regulator of microtubule dynamics 2 ISO ClinVar Annotator: match by term: Glaucoma 3, primary congenital, A ClinVar NCBI chr 6:2,215,062...2,292,288
Ensembl chr 6:2,216,623...2,280,777 		JBrowse link
G Tyr tyrosinase ISS OMIM:231300 MouseDO NCBI chr 1:151,012,598...151,106,802
Ensembl chr 1:151,012,598...151,106,802 		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 disease, type 4B2
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4B2 with early-onset glaucoma
ClinVar Annotator: match by OMIM:604563
ClinVar Annotator: match by null		 OMIM
ClinVar		 PMID:9521281 PMID:10932274 PMID:12554688 PMID:12687498 PMID:15304601 PMID:15477569 PMID:25025039 PMID:25741868 PMID:26392352 PMID:26467025 PMID:27582484 PMID:28492532 NCBI chr 1:174,948,361...175,420,161
Ensembl chr 1:174,948,913...175,420,160 		JBrowse link
exfoliation syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agpat1 1-acylglycerol-3-phosphate O-acyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28553957 NCBI chr20:4,369,399...4,378,272
Ensembl chr20:4,369,178...4,378,269 		JBrowse link
G Apoe apolipoprotein E susceptibility ISO DNA:polymorphism:exon: RGD PMID:15939044 RGD:7771555 NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057 		JBrowse link
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISO CTD Direct Evidence: marker/mechanism CTD PMID:25706626 NCBI chr19:25,453,236...25,749,550
Ensembl chr19:25,526,751...25,749,550 		JBrowse link
G Cav1 caveolin 1 no_association ISO DNA:SNP:promoter:rs4236601 (human) RGD PMID:20835238 RGD:8661783 NCBI chr 4:44,597,123...44,630,206
Ensembl chr 4:44,597,123...44,630,200 		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 chr15:42,626,612...42,665,858
Ensembl chr15:42,640,146...42,665,857 		JBrowse link
G Edn1 endothelin 1 ISO associated with Cataract;protein:increased expression:aqueous humor (human) RGD PMID:15031170 RGD:8661674 NCBI chr17:22,136,814...22,143,745
Ensembl chr17:22,137,324...22,143,324 		JBrowse link
G Eln elastin ISO RGD PMID:7777294 RGD:9585736 NCBI chr12:24,978,478...25,021,864
Ensembl chr12:24,978,483...25,021,863 		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 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306 		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 chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526 		JBrowse link
G Loxl1 lysyl oxidase-like 1 susceptibility
no_association		 ISO DNA:SNP: :p.R141L (rs1048661) (human)
ClinVar Annotator: match by term: Exfoliation syndrome, susceptibility to
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
OMIM
CTD		 PMID:17690259 PMID:18037624 PMID:19343041 PMID:25706626 PMID:28553957, PMID:23378724, PMID:19029039, PMID:23288989, PMID:21320968, PMID:21212179, PMID:21740868, PMID:22605916, PMID:19503743, PMID:19373106 RGD:7387325, RGD:7394726, RGD:7387333, RGD:7387332, RGD:7387331, RGD:7387329, RGD:7387328, RGD:7387327, RGD:7387326 NCBI chr 8:63,067,757...63,092,124
Ensembl chr 8:63,067,300...63,092,009 		JBrowse link
G Ltbp2 latent transforming growth factor beta binding protein 2 ISO ClinVar Annotator: match by term: Exfoliation Syndrome
ClinVar Annotator: match by term: Pseudoexfoliation glaucoma		 ClinVar PMID:23401661 PMID:28492532 NCBI chr 6:108,500,114...108,596,653
Ensembl chr 6:108,500,112...108,596,569 		JBrowse link
G Lyst lysosomal trafficking regulator ISS OMIM:177650 MouseDO NCBI chr17:90,323,055...90,522,091 JBrowse link
G Mmp1 matrix metallopeptidase 1 no_association ISO DNA:insertion:promoter:g.-1607insG rs1799750 (human) RGD PMID:20808730 RGD:8549725 NCBI chr 8:5,703,206...5,723,593
Ensembl chr 8:5,703,206...5,723,591 		JBrowse link
G Mmp9 matrix metallopeptidase 9 no_association ISO DNA:insertion: :p.Q279R (rs17576) (human) RGD PMID:20808730 RGD:8549725 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520 		JBrowse link
G Optn optineurin no_association ISO DNA:polymorphism: :p.M98K (human) RGD PMID:16020311 RGD:6480509 NCBI chr17:77,167,700...77,218,374
Ensembl chr17:77,167,740...77,218,389 		JBrowse link
G Pomp proteasome maturation protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:28553957 NCBI chr12:8,746,948...8,759,433
Ensembl chr12:8,746,855...8,759,599 		JBrowse link
G Pon1 paraoxonase 1 ISO protein:decreased expression:serum (human) RGD PMID:19628957 RGD:8547685 NCBI chr 4:30,249,749...30,276,297
Ensembl chr 4:30,249,742...30,276,372 		JBrowse link
G Rbms3 RNA binding motif, single stranded interacting protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28553957 NCBI chr 8:124,833,804...125,645,895
Ensembl chr 8:124,661,839...125,645,898 		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 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587 		JBrowse link
G Tlcd5 TLC domain containing 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28553957 NCBI chr 8:47,399,122...47,404,018
Ensembl chr 8:47,396,741...47,404,010 		JBrowse link
G Tlr4 toll-like receptor 4 susceptibility ISO DNA:haplotype:: RGD PMID:22831837 RGD:7794768 NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052 		JBrowse link
glaucoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace2 angiotensin I converting enzyme 2 treatment IDA RGD PMID:23702784 RGD:9685447 NCBI chr  X:32,050,734...32,095,860
Ensembl chr  X:32,049,931...32,096,016 		JBrowse link
G Anxa3 annexin A3 IEP mRNA:increased expression:retina RGD PMID:18055803 RGD:2289160 NCBI chr14:14,371,921...14,426,503
Ensembl chr14:14,364,008...14,426,437 		JBrowse link
G Apoa4 apolipoprotein A4 ISO Primary Congenital Glaucoma; protein:increased expression:aqueous humor (human) RGD PMID:21078314 RGD:5685641 NCBI chr 8:50,536,983...50,539,371
Ensembl chr 8:50,537,009...50,539,376 		JBrowse link
G Apoe apolipoprotein E ISO GAD PMID:15118671 RGD:1331525 NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057 		JBrowse link
G Atf2 activating transcription factor 2 IEP RGD PMID:17586494 RGD:10047416 NCBI chr 3:60,721,137...60,795,951
Ensembl chr 3:60,721,135...60,795,951 		JBrowse link
G Bad BCL2-associated agonist of cell death IEP protein:decreased serine phosphorylation:retina RGD PMID:16103353 RGD:2292690 NCBI chr 1:222,198,516...222,207,459
Ensembl chr 1:222,198,534...222,207,453 		JBrowse link
G Bax BCL2 associated X, apoptosis regulator IEP mRNA:increased expression:optic nerve, retina RGD PMID:24357921 RGD:10054098 NCBI chr 1:101,451,801...101,457,207
Ensembl chr 1:101,451,802...101,457,207 		JBrowse link
G Bcl2 BCL2, apoptosis regulator IEP mRNA:decreased expression:optic nerve, retina RGD PMID:24357921 RGD:10054098 NCBI chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374 		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 3:100,768,637...100,819,216
Ensembl chr 3:100,768,637...100,819,210 		JBrowse link
G Becn1 beclin 1 IEP protein:increased expression:eye RGD PMID:22476098 RGD:6483048 NCBI chr10:89,209,944...89,225,297
Ensembl chr10:89,209,940...89,225,297 		JBrowse link
G Bex3 brain expressed X-linked 3 IEP mRNA:decreased expression:retina RGD PMID:19682984 RGD:9743977 NCBI chr  X:106,823,442...106,825,016
Ensembl chr  X:106,823,491...106,825,014 		JBrowse link
G Ccnd2 cyclin D2 IEP mRNA:increased expression:retina RGD PMID:18055803 RGD:2289160 NCBI chr 4:159,674,885...159,697,207
Ensembl chr 4:159,674,885...159,697,207 		JBrowse link
G Ccr5 C-C motif chemokine receptor 5 ISO RGD PMID:16159632 RGD:8549757 NCBI chr 8:133,192,398...133,215,599
Ensembl chr 8:133,197,032...133,215,614 		JBrowse link
G Cdkn1b cyclin-dependent kinase inhibitor 1B IEP mRNA, protein:decreased expression:retina, Muller cell RGD PMID:16707124 RGD:2293623 NCBI chr 4:168,689,043...168,694,159
Ensembl chr 4:168,689,163...168,693,964 		JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21532571 NCBI chr 5:107,823,323...107,832,405
Ensembl chr 5:107,823,330...107,841,175 		JBrowse link
G Cdkn2b cyclin-dependent kinase inhibitor 2B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21532571 NCBI chr 5:107,834,353...107,857,428
Ensembl chr 5:107,845,951...107,858,104 		JBrowse link
G Cfh complement factor H ISO protein:decreased expression:retina: RGD PMID:20484586 RGD:7364950 NCBI chr13:56,979,155...57,080,540
Ensembl chr13:56,978,607...57,080,622 		JBrowse link
G Cntf ciliary neurotrophic factor IDA
ISO		 RGD PMID:14725620, PMID:19060281 RGD:1626115, RGD:8655853 NCBI chr 1:229,599,009...229,601,032
Ensembl chr 1:229,599,009...229,601,032 		JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Glaucoma ClinVar PMID:11007540 PMID:20179744 PMID:22496037 PMID:22522174 PMID:26747767 PMID:27390512 PMID:28492532 PMID:29453956 PMID:30181686 PMID:30311386 NCBI chr 7:139,454,945...139,484,403
Ensembl chr 7:139,455,242...139,483,997 		JBrowse link
G Crb1 crumbs cell polarity complex component 1 ISO ClinVar Annotator: match by term: Glaucoma ClinVar PMID:30311386 NCBI chr13:56,270,519...56,462,893
Ensembl chr13:56,270,781...56,462,834 		JBrowse link
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Glaucoma ClinVar PMID:25741868 PMID:30311386 NCBI chr10:11,590,994...11,721,039
Ensembl chr10:11,595,044...11,721,039 		JBrowse link
G Cx3cr1 C-X3-C motif chemokine receptor 1 ISO RGD PMID:24989686 RGD:9384823 NCBI chr 8:128,740,756...128,754,514
Ensembl chr 8:128,740,756...128,754,514 		JBrowse link
G Cyp4v3 cytochrome P450, family 4, subfamily v, polypeptide 3 ISO ClinVar Annotator: match by term: Glaucoma ClinVar PMID:15042513 PMID:28492532 PMID:30311386 NCBI chr16:50,111,803...50,136,741
Ensembl chr16:50,111,306...50,136,727 		JBrowse link
G Eef2 eukaryotic translation elongation factor 2 ISO associated with Exfoliation Syndrome; RGD PMID:20107165 RGD:10401222 NCBI chr 7:11,401,501...11,406,771
Ensembl chr 7:11,401,501...11,406,771 		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 chr12:22,274,828...22,278,268
Ensembl chr12:22,274,828...22,278,266 		JBrowse link
G Epor erythropoietin receptor IEP protein:increased expression:retina: RGD PMID:17554621 RGD:11041649 NCBI chr 8:22,969,737...22,974,468
Ensembl chr 8:22,969,745...22,974,321 		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 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790 		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 chr17:33,947,501...33,951,484
Ensembl chr17:33,947,506...33,951,484 		JBrowse link
G Ivd isovaleryl-CoA dehydrogenase ISO ClinVar Annotator: match by term: Glaucoma ClinVar PMID:28492532 PMID:30311386 NCBI chr 3:110,669,355...110,689,789
Ensembl chr 3:110,669,312...110,690,173 		JBrowse link
G Lgr4 leucine-rich repeat-containing G protein-coupled receptor 4 ISS MouseDO NCBI chr 3:101,051,960...101,152,119
Ensembl chr 3:101,051,955...101,152,119 		JBrowse link
G Lingo1 leucine rich repeat and Ig domain containing 1 treatment ISO RGD PMID:19422885 RGD:8655601 NCBI chr 8:61,272,125...61,455,480
Ensembl chr 8:61,274,017...61,290,240 		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 6:108,500,114...108,596,653
Ensembl chr 6:108,500,112...108,596,569 		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 3:150,801,289...150,802,935
Ensembl chr 3:150,801,289...150,802,935 		JBrowse link
G Mas1 MAS1 proto-oncogene, G protein-coupled receptor treatment IMP RGD PMID:23702784 RGD:9685447 NCBI chr 1:48,076,761...48,108,218
Ensembl chr 1:48,077,033...48,108,216 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO RGD PMID:16185954 RGD:8547817 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520 		JBrowse link
G Muc5ac mucin 5AC, oligomeric mucus/gel-forming ISO protein:increased expression:conjunctival epithelial cell RGD PMID:16809382 RGD:7364743 NCBI chr 1:214,725,482...214,756,653 JBrowse link
G Mylk myosin light chain kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20375339 NCBI chr11:69,013,060...69,260,039
Ensembl chr11:69,013,050...69,223,158 		JBrowse link
G Myoc myocilin TAS
ISO		 ClinVar Annotator: match by term: Glaucoma
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:9535666 PMID:9772276 PMID:9804137 PMID:10196380 PMID:10330365 PMID:10545602 PMID:10798654 PMID:10980537 PMID:11004290 PMID:11133859 PMID:11152659 PMID:11281418 PMID:11298682 PMID:11803488 PMID:12189160 PMID:12356829 PMID:12442283 PMID:12872267 PMID:14688426 PMID:14764620 PMID:14767915 PMID:15790895 PMID:16148883 PMID:16466712 PMID:16636654 PMID:17438518 PMID:17893664 PMID:18776955 PMID:19145250 PMID:21552496 PMID:21850185 PMID:22736945 PMID:22933836 PMID:23029558 PMID:23922489 PMID:24033266 PMID:25741868 PMID:27485216 PMID:28492532 PMID:30389787 PMID:31959993, PMID:10833334 RGD:633384 NCBI chr13:80,517,531...80,527,928
Ensembl chr13:80,517,536...80,527,928 		JBrowse link
G Nefh neurofilament heavy IEP protein:decreased expression:optic nerve: RGD PMID:28498493 RGD:27226819 NCBI chr14:85,181,572...85,191,557
Ensembl chr14:85,181,572...85,191,557 		JBrowse link
G Ngf nerve growth factor IEP protein:decreased expression:cerebrospinal fluid RGD PMID:18938194 RGD:2303806 NCBI chr 2:204,886,158...204,939,523
Ensembl chr 2:204,886,202...204,940,453 		JBrowse link
G Ngfr nerve growth factor receptor IDA RGD PMID:20943663 RGD:5508695 NCBI chr10:83,389,828...83,408,061
Ensembl chr10:83,389,847...83,408,061 		JBrowse link
G Nmnat3 nicotinamide nucleotide adenylyltransferase 3 treatment IDA RGD PMID:24136224 RGD:13782046 NCBI chr 8:106,317,038...106,429,535
Ensembl chr 8:106,317,124...106,429,522 		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 2:187,143,568...187,160,373
Ensembl chr 2:187,143,568...187,160,373 		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 chr17:5,934,651...6,245,778
Ensembl chr17:5,933,729...6,244,676 		JBrowse link
G Opa1 OPA1, mitochondrial dynamin like GTPase treatment ISO RGD PMID:18936150, PMID:20664796 RGD:7800698, RGD:7800720 NCBI chr11:74,717,600...74,793,902
Ensembl chr11:74,720,254...74,793,803 		JBrowse link
G Optn optineurin susceptibility ISO DNA:SNP:intron: RGD PMID:16148883 RGD:7771548 NCBI chr17:77,167,700...77,218,374
Ensembl chr17:77,167,740...77,218,389 		JBrowse link
G Pccb propionyl-CoA carboxylase subunit beta ISO ClinVar Annotator: match by term: Glaucoma ClinVar PMID:28492532 PMID:30311386 NCBI chr 8:109,368,887...109,418,871
Ensembl chr 8:109,368,624...109,418,872 		JBrowse link
G Pitx2 paired-like homeodomain 2 ISS MouseDO NCBI chr 2:233,602,732...233,621,059
Ensembl chr 2:233,602,732...233,621,129 		JBrowse link
G Ptgs1 prostaglandin-endoperoxide synthase 1 ISO protein:increased expression:microglia RGD PMID:11391707 RGD:5688244 NCBI chr 3:15,560,685...15,582,339
Ensembl chr 3:15,560,712...15,582,344 		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 chr12:40,895,515...40,955,999
Ensembl chr12:40,895,515...40,955,999 		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 chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711 		JBrowse link
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO DNA:Haplotype: :HLA-DRB1*0407(human) RGD PMID:10511023 RGD:7365116 NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190 		JBrowse link
G Serpine1 serpin family E member 1 ISO protein:increased expression:aqueous humor (human) RGD PMID:15710819 RGD:8547695 NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482 		JBrowse link
G Sh3pxd2b SH3 and PX domains 2B ISS MouseDO NCBI chr10:17,209,152...17,296,449
Ensembl chr10:17,209,212...17,291,876 		JBrowse link
G Slc4a4 solute carrier family 4 member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18614622 NCBI chr14:20,476,258...20,817,042
Ensembl chr14:20,479,323...20,920,286 		JBrowse link
G Sncg synuclein, gamma ISO
IEP		 mRNA, protein:decreased expression:optic nerve RGD PMID:18728752, PMID:11933054 RGD:6218971, RGD:6480100 NCBI chr16:10,722,110...10,726,648
Ensembl chr16:10,722,106...10,726,707 		JBrowse link
G Sqstm1 sequestosome 1 IEP protein:increased expression:optic nerve RGD PMID:24136224 RGD:13782046 NCBI chr10:35,704,728...35,716,316
Ensembl chr10:35,704,730...35,716,294 		JBrowse link
G Tdrd7 tudor domain containing 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21436445 NCBI chr 5:61,557,909...61,631,719
Ensembl chr 5:61,564,864...61,631,710 		JBrowse link
G Tgfb2 transforming growth factor, beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20375339 NCBI chr13:105,039,639...105,142,010
Ensembl chr13:105,039,853...105,141,030 		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 chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000 		JBrowse link
G Trnt1 tRNA nucleotidyl transferase 1 ISO ClinVar Annotator: match by term: Glaucoma ClinVar PMID:30311386 NCBI chr 4:138,855,497...138,869,217
Ensembl chr 4:138,855,641...138,869,217 		JBrowse link
G Tsen54 tRNA splicing endonuclease subunit 54 ISO ClinVar Annotator: match by term: Glaucoma ClinVar PMID:30311386 NCBI chr10:104,358,401...104,366,926
Ensembl chr10:104,359,342...104,366,926 		JBrowse link
G Txn1 thioredoxin 1 IEP protein:decreased expression:retinal ganglion cell RGD PMID:18701913 RGD:2306193 NCBI chr 5:75,049,735...75,057,731
Ensembl chr 5:75,049,747...75,057,752 		JBrowse link
G Txnip thioredoxin interacting protein IEP protein:increased expression:retinal ganglion cell RGD PMID:18701913 RGD:2306193 NCBI chr 2:198,683,168...198,686,971
Ensembl chr 2:198,683,159...198,686,974 		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 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681 		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 chr18:25,637,475...25,665,801
Ensembl chr18:25,637,588...25,665,639 		JBrowse link
G Zeb1 zinc finger E-box binding homeobox 1 ISO ClinVar Annotator: match by term: Glaucoma ClinVar PMID:25741868 NCBI chr17:54,656,627...54,714,920
Ensembl chr17:54,658,463...54,714,914 		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 3:55,925,598...55,951,584
Ensembl chr 3:55,925,599...55,951,584 		JBrowse link
Glaucoma 1, Open Angle, E term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Optn optineurin ISO ClinVar Annotator: match by term: Glaucoma 1, open angle, e ClinVar PMID:11834836 PMID:11978762 PMID:12208142 PMID:12939304 PMID:15226658 PMID:15761120 PMID:16619239 PMID:19145250 PMID:19172505 PMID:19672125 PMID:20671613 PMID:20981092 PMID:21217154 PMID:21220178 PMID:22402017 PMID:22708870 PMID:22995991 PMID:23062601 PMID:25333069 PMID:25741868 PMID:26566915 PMID:28492532 NCBI chr17:77,167,700...77,218,374
Ensembl chr17:77,167,740...77,218,389 		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
ClinVar Annotator: match by OMIM:603383		 OMIM
ClinVar		 PMID:10037570 PMID:22156576 PMID:28492532 NCBI chr 4:7,158,293...7,167,505
Ensembl chr 4:7,158,448...7,167,509 		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 OMIM:609887		 OMIM
ClinVar		 PMID:15677485 PMID:17353431 PMID:18172102 PMID:19150991 PMID:22995991 PMID:25333069 PMID:25741868 NCBI chr18:25,637,475...25,665,801
Ensembl chr18:25,637,588...25,665,639 		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
ClinVar Annotator: match by OMIM:613100		 OMIM
ClinVar		 PMID:19765683 PMID:20215012 PMID:20463313 PMID:25741868 PMID:27535533 NCBI chr 1:101,405,314...101,408,145
Ensembl chr 1:101,405,314...101,408,145 		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:28492532 NCBI chr 7:63,655,247...63,687,978
Ensembl chr 7:63,655,247...63,687,978 		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:11403040 PMID:12036985 PMID:19643970 PMID:22004014 PMID:23218701 PMID:23922489 PMID:24033266 PMID:24281366 PMID:25741868 PMID:27820421 PMID:28492532 PMID:32499604 NCBI chr 6:2,308,179...2,316,739
Ensembl chr 6:2,307,808...2,316,722 		JBrowse link
G Ltbp2 latent transforming growth factor beta binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:108,500,114...108,596,653
Ensembl chr 6:108,500,112...108,596,569 		JBrowse link
G Tek TEK receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:113,725,717...113,852,799
Ensembl chr 5:113,725,717...113,852,799 		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 6:2,308,179...2,316,739
Ensembl chr 6:2,307,808...2,316,722 		JBrowse link
G Flt1 Fms related receptor tyrosine kinase 1 ISO RGD PMID:22426483 RGD:8549773 NCBI chr12:9,033,993...9,205,886
Ensembl chr12:9,034,308...9,205,905 		JBrowse link
G Kdr kinase insert domain receptor ISO RGD PMID:22426483 RGD:8549773 NCBI chr14:34,727,677...34,787,127
Ensembl chr14:34,727,623...34,787,183 		JBrowse link
juvenile glaucoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myoc myocilin susceptibility ISO ClinVar Annotator: match by term: Glaucoma 1, open angle, A
ClinVar Annotator: match by term: Glaucoma 1, open angle, a, autosomal recessive
ClinVar Annotator: match by term: Primary open angle glaucoma juvenile onset 1
ClinVar Annotator: match by term: MYOC-Related Disorders
ClinVar Annotator: match by term: Glaucoma 1, open angle, a, digenic
ClinVar Annotator: match by OMIM:137750
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
ClinVar		 PMID:3756132 PMID:6770678 PMID:8513321 PMID:9005853 PMID:9328473 PMID:9345106 PMID:9361308 PMID:9535666 PMID:9556305 PMID:9639450 PMID:9697688 PMID:9754180 PMID:9804137 PMID:10196380 PMID:10330365 PMID:10545602 PMID:10644174 PMID:10798654 PMID:10815160 PMID:10819638 PMID:10873982 PMID:10980537 PMID:11004290 PMID:11133859 PMID:11281418 PMID:11292420 PMID:11298682 PMID:11535458 PMID:11774072 PMID:11803488 PMID:11815346 PMID:12189160 PMID:12356829 PMID:12447164 PMID:12522550 PMID:12868033 PMID:12872267 PMID:14193667 PMID:14627955 PMID:14688426 PMID:14767915 PMID:15025728 PMID:15723004 PMID:15733270 PMID:15790895 PMID:15851979 PMID:16148883 PMID:16288197 PMID:16401791 PMID:16466712 PMID:16636654 PMID:17210859 PMID:17438518 PMID:17499207 PMID:17562996 PMID:17563717 PMID:17615537 PMID:17893664 PMID:18776955 PMID:19023451 PMID:19145250 PMID:20021252 PMID:21552496 PMID:21612213 PMID:21850185 PMID:22194650 PMID:22736945 PMID:22933836 PMID:23029558 PMID:23304066 PMID:23922489 PMID:24732711 PMID:24825108 PMID:25741868 PMID:26633542 PMID:27485216 PMID:28492532 PMID:30311386, PMID:17893668, PMID:16401791, PMID:17893664, PMID:12442283, PMID:19234343, PMID:19784393, PMID:20806035, PMID:23517641, PMID:23566828, PMID:9792882, PMID:23886590 RGD:7401248, RGD:7401247, RGD:7401192, RGD:7401186, RGD:7394848, RGD:7394834, RGD:7394828, RGD:7394800, RGD:7394798, RGD:7394788, RGD:7394787 NCBI chr13:80,517,531...80,527,928
Ensembl chr13:80,517,536...80,527,928 		JBrowse link
G Pax6 paired box 6 ISS MouseDO NCBI chr 3:95,700,241...95,728,682
Ensembl chr 3:95,707,386...95,728,624 		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 1:277,537,585...277,538,985
Ensembl chr 1:277,537,585...277,538,985 		JBrowse link
G Apoe apolipoprotein E susceptibility ISO DNA:polymorphism:exon: RGD PMID:16778644 RGD:7495800 NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057 		JBrowse link
G Bdnf brain-derived neurotrophic factor ISO protein:increased expression:tear: RGD PMID:19861219 RGD:8655604 NCBI chr 3:100,768,637...100,819,216
Ensembl chr 3:100,768,637...100,819,210 		JBrowse link
G Cav1 caveolin 1 no_association ISO DNA:SNP:promoter:rs4236601 (human) RGD PMID:23743525 RGD:8661774 NCBI chr 4:44,597,123...44,630,206
Ensembl chr 4:44,597,123...44,630,200 		JBrowse link
G Cav2 caveolin 2 susceptibility ISO DNA:SNP: :rs1052990 (human) RGD PMID:23743525 RGD:8661774 NCBI chr 4:44,573,264...44,580,640
Ensembl chr 4:44,573,264...44,580,638 		JBrowse link
G Crp C-reactive protein no_association ISO protein:increased expression:plasma: RGD PMID:16148587, PMID:22966842 RGD:9491770, RGD:9491771 NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713 		JBrowse link
G Edn1 endothelin 1 ISO protein:increased expression:plasma (human) RGD PMID:21946544 RGD:8661736 NCBI chr17:22,136,814...22,143,745
Ensembl chr17:22,137,324...22,143,324 		JBrowse link
G Hspd1 heat shock protein family D (Hsp60) member 1 IDA RGD PMID:20858111 RGD:10402863 NCBI chr 9:61,680,529...61,691,202
Ensembl chr 9:61,680,530...61,690,956 		JBrowse link
G Myoc myocilin susceptibility ISO DNA:Haplotype: : RGD PMID:16148883 RGD:7771548 NCBI chr13:80,517,531...80,527,928
Ensembl chr13:80,517,536...80,527,928 		JBrowse link
G Optn optineurin susceptibility ISO DNA:SNPs:exon,introns:
DNA:polymorphism:exon:p.M98K(human)
DNA:polymorphisms, haplotype:exons:c.412G>A,603T>A(human)		 RGD PMID:16148883, PMID:15226658, PMID:15557444 RGD:7771548, RGD:7775043, RGD:7775041 NCBI chr17:77,167,700...77,218,374
Ensembl chr17:77,167,740...77,218,389 		JBrowse link
G Slc1a1 solute carrier family 1 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28703795 NCBI chr 1:246,955,017...247,035,159
Ensembl chr 1:246,954,980...247,037,056 		JBrowse link
G Slc1a3 solute carrier family 1 member 3 ISS OMIM:606657 MouseDO NCBI chr 2:57,860,881...57,935,363
Ensembl chr 2:57,860,834...57,935,363 		JBrowse link
G Sod1 superoxide dismutase 1 ISO
ISS		 protein:decreased expression:serum (human)
OMIM:606657		 MouseDO PMID:21421868 RGD:8655579 NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862 		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 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052 		JBrowse link
G Tnf tumor necrosis factor ISO DNA:polymorphism, haplotype:promoter: -863C>A (human) RGD PMID:15557444 RGD:7775041 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000 		JBrowse link
G Tp53 tumor protein p53 susceptibility ISO DNA:polymorphism:cds:p.R72P(rs1042522)(human) RGD PMID:20357201 RGD:7387247 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449 		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:20179738 PMID:20617341 PMID:21081970 PMID:22025892 PMID:25741868 PMID:28492532 NCBI chr 6:108,500,114...108,596,653
Ensembl chr 6:108,500,112...108,596,569 		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 OMIM NCBI chr 6:108,500,114...108,596,653
Ensembl chr 6:108,500,112...108,596,569 		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 1:226,260,558...226,292,650
Ensembl chr 1:226,260,558...226,292,480 		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 chr17:22,136,814...22,143,745
Ensembl chr17:22,137,324...22,143,324 		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 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807 		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 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681 		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 susceptibility ISO DNA:polymorphism:intron:IVS8+32T>C (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: GLAUCOMA, NORMAL PRESSURE, SUSCEPTIBILITY TO
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)		 CTD
OMIM
ClinVar		 PMID:25741868, PMID:17188046, PMID:19969356, PMID:11810296, PMID:12073024 RGD:7800685, RGD:7800712, RGD:7800710, RGD:7800687 NCBI chr11:74,717,600...74,793,902
Ensembl chr11:74,720,254...74,793,803 		JBrowse link
G Optn optineurin susceptibility ISO ClinVar Annotator: match by term: Glaucoma, normal tension, susceptibility to
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:11834836 PMID:11978762 PMID:12208142 PMID:15761120 PMID:16619239 PMID:25741868 NCBI chr17:77,167,700...77,218,374
Ensembl chr17:77,167,740...77,218,389 		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 chr18:57,513,792...57,515,834
Ensembl chr18:57,513,793...57,515,834 		JBrowse link
G Afap1 actin filament associated protein 1 susceptibility ISO DNA:SNPs: :rs4619890,rs4478172(human) RGD PMID:25173105 RGD:13673886 NCBI chr14:79,923,132...80,035,096
Ensembl chr14:79,919,717...79,988,110 		JBrowse link
G Apoc3 apolipoprotein C3 ISO protein:increased expression: aqueous humor: RGD PMID:23860758 RGD:10054092 NCBI chr 8:50,529,318...50,531,498
Ensembl chr 8:50,529,318...50,531,498 		JBrowse link
G Apoe apolipoprotein E susceptibility ISO RGD PMID:16110302 RGD:7495786 NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057 		JBrowse link
G Asb10 ankyrin repeat and SOCS box-containing 10 ISS OMIM:137750 | OMIM:177700 | OMIM:601682 | OMIM:602429 | OMIM:603383 | OMIM:606689 | OMIM:608695 | OMIM:608696 | OMIM:609745 | OMIM:609887 | OMIM:610535 | OMIM:611274 | OMIM:611276 | OMIM:613100 MouseDO NCBI chr 4:7,158,293...7,167,505
Ensembl chr 4:7,158,448...7,167,509 		JBrowse link
G Atxn2 ataxin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26752265 NCBI chr12:40,264,601...40,335,637
Ensembl chr12:40,266,662...40,332,612 		JBrowse link
G Cav1 caveolin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20835238 NCBI chr 4:44,597,123...44,630,206
Ensembl chr 4:44,597,123...44,630,200 		JBrowse link
G Cav2 caveolin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20835238 NCBI chr 4:44,573,264...44,580,640
Ensembl chr 4:44,573,264...44,580,638 		JBrowse link
G Cdkn2b cyclin-dependent kinase inhibitor 2B disease_progression ISO DNA:SNP: :rs1063192 (human) RGD PMID:22840486 RGD:8548689 NCBI chr 5:107,834,353...107,857,428
Ensembl chr 5:107,845,951...107,858,104 		JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO RGD PMID:15161848 RGD:8552673 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789 		JBrowse link
G Fndc3b fibronectin type III domain containing 3B ISO CTD Direct Evidence: marker/mechanism CTD PMID:23291589 NCBI chr 2:113,109,949...113,415,171
Ensembl chr 2:113,112,902...113,345,577 		JBrowse link
G Foxc1 forkhead box C1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26752265 NCBI chr17:33,947,501...33,951,484
Ensembl chr17:33,947,506...33,951,484 		JBrowse link
G Gmds GDP-mannose 4, 6-dehydratase susceptibility ISO DNA:SNPs: :rs11969985,rs2761233(human) RGD PMID:25173105 RGD:13673886 NCBI chr17:33,408,722...33,938,086
Ensembl chr17:33,408,722...33,938,085 		JBrowse link
G Il10 interleukin 10 ISO RGD PMID:23788371 RGD:7364852 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392 		JBrowse link
G Il2 interleukin 2 ISO protein:decreased expression:aqueous humor RGD PMID:21834929 RGD:5147910 NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854 		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 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910 		JBrowse link
G Myoc myocilin ISO DNA:missense mutation:cds:p.K423E (human)
CTD Direct Evidence: marker/mechanism		 CTD PMID:21059646, PMID:12860809 RGD:7401194 NCBI chr13:80,517,531...80,527,928
Ensembl chr13:80,517,536...80,527,928 		JBrowse link
G Ntf4 neurotrophin 4 ISS OMIM:137750 | OMIM:177700 | OMIM:601682 | OMIM:602429 | OMIM:603383 | OMIM:606689 | OMIM:608695 | OMIM:608696 | OMIM:609745 | OMIM:609887 | OMIM:610535 | OMIM:611274 | OMIM:611276 | OMIM:613100 MouseDO NCBI chr 1:101,405,314...101,408,145
Ensembl chr 1:101,405,314...101,408,145 		JBrowse link
G Optn optineurin no_association ISO CTD Direct Evidence: marker/mechanism
DNA:missense mutations, SNP: :multiple
DNA:polymorphism: :p.M98K (human)		 CTD PMID:21059646 PMID:25096716, PMID:11834836, PMID:19096531, PMID:14627677, PMID:16020311 RGD:1600995, RGD:6480513, RGD:6480510, RGD:6480509 NCBI chr17:77,167,700...77,218,374
Ensembl chr17:77,167,740...77,218,389 		JBrowse link
G Pon1 paraoxonase 1 ISO DNA:missense mutations:cds:p.L55M, p.Q192R (human) RGD PMID:16411107 RGD:8547552 NCBI chr 4:30,249,749...30,276,297
Ensembl chr 4:30,249,742...30,276,372 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16330497 NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335 		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 chr20:3,979,302...3,989,669
Ensembl chr20:3,979,035...3,989,669 		JBrowse link
G Tmco1 transmembrane and coiled-coil domains 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21532571 NCBI chr13:85,465,015...85,559,113
Ensembl chr13:85,465,792...85,559,087 		JBrowse link
G Tnf tumor necrosis factor susceptibility ISO DNA:SNP: :-308G>A(rs1800629)(human) RGD PMID:20357201 RGD:7387247 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000 		JBrowse link
G Txnrd2 thioredoxin reductase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26752265 NCBI chr11:86,667,994...86,716,063
Ensembl chr11:86,667,997...86,716,254 		JBrowse link
G Wdr36 WD repeat domain 36 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21059646 NCBI chr18:25,637,475...25,665,801
Ensembl chr18:25,637,588...25,665,639 		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 chr20:12,225,202...12,332,858
Ensembl chr20:12,225,202...12,332,858 		JBrowse link
G Gpnmb glycoprotein nmb ISS OMIM:600510 MouseDO NCBI chr 4:78,694,447...78,715,685
Ensembl chr 4:78,694,447...78,715,683 		JBrowse link
primary angle-closure glaucoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Anapc2 anaphase promoting complex subunit 2 ISO protein:increased expression:aqueous humor of eyeball (human) RGD PMID:29332228 RGD:14696671 NCBI chr 3:2,490,496...2,502,247
Ensembl chr 3:2,490,518...2,502,248 		JBrowse link
G Col18a1 collagen type XVIII alpha 1 chain ISO OMIM NCBI chr20:12,225,202...12,332,858
Ensembl chr20:12,225,202...12,332,858 		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:17224759 PMID:17591938 PMID:18622259 PMID:20664688 PMID:21306220 PMID:24227805 PMID:26550445 PMID:27243976 NCBI chr 6:2,308,179...2,316,739
Ensembl chr 6:2,307,808...2,316,722 		JBrowse link
G Ltbp2 latent transforming growth factor beta binding protein 2 ISO
ISS		 ClinVar Annotator: match by term: Primary congenital glaucoma
OMIM:613085 | OMIM:613086		 ClinVar
MouseDO		 NCBI chr 6:108,500,114...108,596,653
Ensembl chr 6:108,500,112...108,596,569 		JBrowse link
G Rmdn2 regulator of microtubule dynamics 2 ISO ClinVar Annotator: match by term: Primary congenital glaucoma ClinVar NCBI chr 6:2,215,062...2,292,288
Ensembl chr 6:2,216,623...2,280,777 		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 OMIM:613086		 OMIM
ClinVar		 PMID:19361779 PMID:19656777 PMID:20179738 PMID:21081970 PMID:23218701 PMID:23378721 PMID:23401661 PMID:25741868 PMID:26425313 PMID:27293371 PMID:28492532 PMID:30311386 NCBI chr 6:108,500,114...108,596,653
Ensembl chr 6:108,500,112...108,596,569 		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: Glaucoma 3, primary congenital, E		 ClinVar
OMIM		 PMID:25741868 PMID:27270174 NCBI chr 5:113,725,717...113,852,799
Ensembl chr 5:113,725,717...113,852,799 		JBrowse link
primary open angle glaucoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adipoq adiponectin, C1Q and collagen domain containing ISO DNA:SNP: :rs2241766 (human) RGD PMID:22553514 RGD:8547563 NCBI chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488 		JBrowse link
G Adrb2 adrenoceptor beta 2 onset ISO DNA:polymprphism:cds:p.R16G(human) RGD PMID:16785856 RGD:8548468 NCBI chr18:57,513,792...57,515,834
Ensembl chr18:57,513,793...57,515,834 		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 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057 		JBrowse link
G Bdnf brain-derived neurotrophic factor ISO protein:decreased expression:serum: RGD PMID:21076359 RGD:8655612 NCBI chr 3:100,768,637...100,819,216
Ensembl chr 3:100,768,637...100,819,210 		JBrowse link
G Camk1d calcium/calmodulin-dependent protein kinase ID ISO ClinVar Annotator: match by term: Primary open angle glaucoma ClinVar PMID:28492532 NCBI chr17:76,532,611...76,938,956
Ensembl chr17:76,532,611...76,938,956 		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 7:119,998,639...120,028,632
Ensembl chr 7:119,999,472...120,027,026 		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 4:44,597,123...44,630,206
Ensembl chr 4:44,597,123...44,630,200 		JBrowse link
G Cav2 caveolin 2 ISO DNA:SNPs: :rs10278782, rs1052990 (human) RGD PMID:24572674 RGD:8661770 NCBI chr 4:44,573,264...44,580,640
Ensembl chr 4:44,573,264...44,580,638 		JBrowse link
G Ccdc3 coiled-coil domain containing 3 ISO ClinVar Annotator: match by term: Primary open angle glaucoma ClinVar PMID:28492532 NCBI chr17:76,991,722...77,093,515
Ensembl chr17:76,995,043...77,093,308 		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 chr20:6,348,422...6,358,864
Ensembl chr20:6,351,458...6,358,864 		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: GLAUCOMA, PRIMARY OPEN ANGLE, ADULT-ONSET
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 PMID:10655546 PMID:11403040 PMID:11774072 PMID:11980847 PMID:12036985 PMID:14507861 PMID:15342693 PMID:16688110 PMID:16735991 PMID:16735994 PMID:17563717 PMID:17591938 PMID:17718864 PMID:18470941 PMID:18622259 PMID:19204079 PMID:19234632 PMID:19236111 PMID:19536304 PMID:19597567 PMID:19643970 PMID:19744731 PMID:19793111 PMID:21081970 PMID:21168818 PMID:22004014 PMID:23028769 PMID:23218701 PMID:23922489 PMID:24033266 PMID:24123366 PMID:24281366 PMID:25091052 PMID:25333069 PMID:25741868 PMID:25978063 PMID:27408750 PMID:27508083 PMID:27535533 PMID:27820421 PMID:28384041 PMID:28492532 PMID:28620713 PMID:29556725 PMID:30311386 PMID:32499604, PMID:18483560, PMID:18055790, PMID:17563717, PMID:16319821 RGD:7800658, RGD:7800696, RGD:7800695, RGD:7800664 NCBI chr 6:2,308,179...2,316,739
Ensembl chr 6:2,307,808...2,316,722 		JBrowse link
G Edn1 endothelin 1 ISO protein:increased expression:plasma (human) RGD PMID:22406080 RGD:8661676 NCBI chr17:22,136,814...22,143,745
Ensembl chr17:22,137,324...22,143,324 		JBrowse link
G Eln elastin ISO RGD PMID:1526740 RGD:9585735 NCBI chr12:24,978,478...25,021,864
Ensembl chr12:24,978,483...25,021,863 		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 6:99,163,953...99,214,711
Ensembl chr 6:99,164,357...99,214,251 		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 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306 		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 chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526 		JBrowse link
G Gucy1a1 guanylate cyclase 1 soluble subunit alpha 1 ISS OMIM:137760 MouseDO NCBI chr 2:181,045,694...181,103,321
Ensembl chr 2:181,045,703...181,102,918 		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 8:63,067,757...63,092,124
Ensembl chr 8:63,067,300...63,092,009 		JBrowse link
G Ltbp2 latent transforming growth factor beta binding protein 2 ISO ClinVar Annotator: match by synonym: GLAUCOMA, PRIMARY OPEN ANGLE, ADULT-ONSET
ClinVar Annotator: match by term: Primary open angle glaucoma		 ClinVar PMID:28492532 NCBI chr 6:108,500,114...108,596,653
Ensembl chr 6:108,500,112...108,596,569 		JBrowse link
G Mbl2 mannose binding lectin 2 ISO protein:increased expression:serum: RGD PMID:22335808 RGD:8693705 NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962 		JBrowse link
G Mcm10 minichromosome maintenance 10 replication initiation factor ISO ClinVar Annotator: match by term: Primary open angle glaucoma ClinVar PMID:28492532 NCBI chr17:77,224,218...77,245,486
Ensembl chr17:77,224,112...77,246,478 		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 8:5,703,206...5,723,593
Ensembl chr 8:5,703,206...5,723,591 		JBrowse link
G Mmp9 matrix metallopeptidase 9 no_association ISO DNA:insertion: :p.Q279R (rs17576) (human) RGD PMID:20808730 RGD:8549725 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520 		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 PMID:9005853 PMID:9639450 PMID:10815160 PMID:11292420 PMID:11535458 PMID:11803488 PMID:11815346 PMID:12189160 PMID:12522550 PMID:12872267 PMID:17562996 PMID:17615537 PMID:19023451 PMID:20021252 PMID:22933836 PMID:23304066 PMID:24732711 PMID:25741868 PMID:30311386, PMID:11595024, PMID:20179615, PMID:18334962, PMID:22328638, PMID:16431959, PMID:12215093, PMID:12189160, PMID:15483649, PMID:21655360, PMID:22879734, PMID:17197538, PMID:19145250, PMID:12447164, PMID:19688280, PMID:22736945, PMID:22933836, PMID:23453510, PMID:23876925, PMID:15623777, PMID:9535666, PMID:10196380, PMID:9005853 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 chr13:80,517,531...80,527,928
Ensembl chr13:80,517,536...80,527,928 		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, PMID:20069064, PMID:19815736 RGD:7771542, RGD:7775055, RGD:7775039, RGD:7775039, RGD:7771575, RGD:7771573, RGD:7771543 NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410 		JBrowse link
G Ogg1 8-oxoguanine DNA glycosylase ISO DNA:SNP: :p.S326C (human) RGD PMID:23499241 RGD:8657152 NCBI chr 4:145,282,828...145,289,367
Ensembl chr 4:145,282,797...145,289,326 		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 chr11:74,717,600...74,793,902
Ensembl chr11:74,720,254...74,793,803 		JBrowse link
G Optn optineurin no_association
susceptibility		 ISO ClinVar Annotator: match by term: Primary open angle glaucoma
ClinVar Annotator: match by OMIM:137760
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)		 OMIM
ClinVar		 PMID:11834836 PMID:11978762 PMID:12208142 PMID:12789137 PMID:12939304 PMID:14597044 PMID:15226658 PMID:15326130 PMID:15761120 PMID:16205626 PMID:16358725 PMID:16619239 PMID:17122126 PMID:17293779 PMID:17615537 PMID:19096531 PMID:19145250 PMID:19172505 PMID:19672125 PMID:19710941 PMID:20428114 PMID:20671613 PMID:20981092 PMID:21074290 PMID:21217154 PMID:21220178 PMID:21550138 PMID:21613650 PMID:21852022 PMID:22366792 PMID:22402017 PMID:22708870 PMID:22892313 PMID:22995991 PMID:23062601 PMID:23357852 PMID:25333069 PMID:25741868 PMID:25943890 PMID:26303227 PMID:26467025 PMID:26566915 PMID:26740678 PMID:28089114 PMID:28492532 PMID:29650794, PMID:19172505, PMID:15226658, PMID:15557444 RGD:7775049, RGD:7775043, RGD:7775041 NCBI chr17:77,167,700...77,218,374
Ensembl chr17:77,167,740...77,218,389 		JBrowse link
G Pon1 paraoxonase 1 susceptibility ISO DNA:snp:cds:p.Q192R (rs662) (human) RGD PMID:22553514 RGD:8547563 NCBI chr 4:30,249,749...30,276,297
Ensembl chr 4:30,249,742...30,276,372 		JBrowse link
G Prpf3 pre-mRNA processing factor 3 ISO ClinVar Annotator: match by term: Primary open angle glaucoma ClinVar PMID:30311386 NCBI chr 2:197,947,010...197,971,464
Ensembl chr 2:197,947,010...197,971,463 		JBrowse link
G Sod2 superoxide dismutase 2 susceptibility ISO DNA:polymorphism: :rs2842980(human) RGD PMID:23638916 RGD:8158079 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587 		JBrowse link
G Tlr4 toll-like receptor 4 susceptibility ISO DNA:polymorphism,haplotype:multiple: RGD PMID:22831837 RGD:7794768 NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052 		JBrowse link
G Tnf tumor necrosis factor ISO DNA:polymorphisms, haplotype:promoter:-857C>T, -863C>A (human) RGD PMID:15557444 RGD:7775041 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000 		JBrowse link
G Tp53 tumor protein p53 susceptibility ISO DNA:polymorphism:cds:p.R72P(human) RGD PMID:23049825 RGD:8547822 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449 		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 PMID:25741868, PMID:16723468, PMID:16876519, PMID:15677485 RGD:8548463, RGD:8548466, RGD:8548465 NCBI chr18:25,637,475...25,665,801
Ensembl chr18:25,637,588...25,665,639 		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: Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation
ClinVar Annotator: match by OMIM:604278		 OMIM
ClinVar		 PMID:10545938 PMID:11274232 PMID:18658147 PMID:20197274 PMID:21234596 PMID:23362273 PMID:25741868 PMID:28492532 NCBI chr14:20,476,258...20,817,042
Ensembl chr14:20,479,323...20,920,286 		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 2
ClinVar Annotator: match by term: Weill-Marchesani Syndrome, Autosomal Dominant		 ClinVar
OMIM		 PMID:2005308 PMID:4750422 PMID:7802039 PMID:7870075 PMID:8653794 PMID:8723076 PMID:9338581 PMID:9399842 PMID:9401003 PMID:9837823 PMID:10464652 PMID:10533071 PMID:10633129 PMID:10930463 PMID:11068200 PMID:11524736 PMID:11700157 PMID:11748851 PMID:11826022 PMID:11933199 PMID:11992479 PMID:12068374 PMID:12203987 PMID:12203992 PMID:12446365 PMID:12525539 PMID:12938084 PMID:14695540 PMID:15054843 PMID:15062093 PMID:15161917 PMID:15241795 PMID:15880509 PMID:16220557 PMID:16222657 PMID:16342915 PMID:16571647 PMID:16677079 PMID:16756980 PMID:16971892 PMID:17253931 PMID:17418587 PMID:17627385 PMID:17657824 PMID:17663468 PMID:17679947 PMID:17701892 PMID:17718856 PMID:18079676 PMID:18087243 PMID:18310266 PMID:18435798 PMID:18615205 PMID:19012347 PMID:19159394 PMID:19161152 PMID:19293843 PMID:19328768 PMID:19353630 PMID:19533785 PMID:19618372 PMID:19839986 PMID:19863550 PMID:19941982 PMID:20375004 PMID:20564469 PMID:21542060 PMID:21883168 PMID:21895641 PMID:21907952 PMID:22772377 PMID:23506379 PMID:23577066 PMID:23608731 PMID:23719250 PMID:23794388 PMID:24033266 PMID:24161884 PMID:24793577 PMID:24833718 PMID:24941995 PMID:25053872 PMID:25101912 PMID:25326635 PMID:25504618 PMID:25637381 PMID:25644172 PMID:25652356 PMID:25741868 PMID:25812041 PMID:25852444 PMID:25907466 PMID:25944730 PMID:26272055 PMID:26333736 PMID:26498160 PMID:26621581 PMID:26787436 PMID:27146836 PMID:27153395 PMID:27353645 PMID:27437668 PMID:27582083 PMID:27611364 PMID:27930701 PMID:28050602 PMID:28098115 PMID:28492532 PMID:28539832 PMID:28650953 PMID:28655553 PMID:28659821 PMID:28847661 PMID:28973303 PMID:29357934 PMID:29510914 PMID:29543232 PMID:29848614 PMID:29907982 PMID:30311386 PMID:30675029 PMID:30739908 PMID:31163209 PMID:31211626 NCBI chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    sensory system disease 5285
      eye disease 2714
        ocular hypertension 162
          glaucoma + 146
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      cardiovascular system disease 4413
        vascular disease 3342
          artery disease 2385
            hypertension 1509
              ocular hypertension 162
                glaucoma + 146
paths to the root