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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:open-angle glaucoma
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Accession:DOID:1067 term browser browse the term
Definition:A glaucoma characterized by optic nerve damage resulting in progressive loss of visual field and increased pressure in the eye due to trabecular blockage. (DO)
Synonyms:exact_synonym: Compensative Glaucoma;   Compensative Glaucomas;   Glaucoma Simplex;   Open Angle Glaucomas;   Simple Glaucoma;   compensated glaucoma;   compensated glaucomas;   glaucoma simplices;   simple glaucomas;   wide-angle glaucoma
 narrow_synonym: Pigmentary Glaucoma;   Pigmentary Glaucomas
 primary_id: MESH:D005902
 xref: EFO:0004190;   EFO:0021425;   ICD10CM:H40.1;   ICD9CM:365.1;   NCI:C34641
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
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 chr 2:150,032,649...150,035,591
Ensembl chr 2:150,033,579...150,040,731 		JBrowse link
G AFAP1 actin filament associated protein 1 susceptibility ISO DNA:SNPs: :rs4619890,rs4478172(human) RGD PMID:25173105 RGD:13673886 NCBI chr 8:3,070,031...3,198,319
Ensembl chr 8:3,069,959...3,202,533 		JBrowse link
G APOC3 apolipoprotein C3 ISO protein:increased expression: aqueous humor: RGD PMID:23860758 RGD:10054092 NCBI chr 9:44,211,171...44,213,538
Ensembl chr 9:44,211,194...44,213,533 		JBrowse link
G APOE apolipoprotein E susceptibility ISO RGD PMID:16110302 RGD:7495786 NCBI chr 6:51,373,113...51,375,333
Ensembl chr 6:51,372,292...51,375,330 		JBrowse link
G ATXN2 ataxin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26752265 NCBI chr14:32,656,537...32,772,082
Ensembl chr14:32,665,122...32,771,813 		JBrowse link
G CAV1 caveolin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20835238 NCBI chr18:29,648,120...29,682,451
Ensembl chr18:29,649,992...29,682,465 		JBrowse link
G CAV2 caveolin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20835238 NCBI chr18:29,699,012...29,707,277
Ensembl chr18:29,699,020...29,707,277 		JBrowse link
G CDKN2B cyclin dependent kinase inhibitor 2B disease_progression ISO DNA:SNP: :rs1063192 (human) RGD PMID:22840486 RGD:8548689 NCBI chr 1:200,666,250...200,770,880
Ensembl chr 1:200,761,004...200,766,056 		JBrowse link
G COL1A1 collagen type I alpha 1 chain ISO RGD PMID:15161848 RGD:8552673 NCBI chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,004 		JBrowse link
G FNDC3B fibronectin type III domain containing 3B ISO CTD Direct Evidence: marker/mechanism CTD PMID:23291589 NCBI chr13:110,587,464...110,931,687
Ensembl chr13:110,587,463...110,928,465 		JBrowse link
G FOXC1 forkhead box C1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26752265 NCBI chr 7:837,088...840,593
Ensembl chr 7:837,171...838,805 		JBrowse link
G GMDS GDP-mannose 4,6-dehydratase susceptibility ISO DNA:SNPs: :rs11969985,rs2761233(human) RGD PMID:25173105 RGD:13673886 NCBI chr 7:849,088...1,285,563
Ensembl chr 7:752,592...1,285,550 		JBrowse link
G IL10 interleukin 10 ISO RGD PMID:23788371 RGD:7364852 NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,728...67,405,378 		JBrowse link
G IL2 interleukin 2 ISO protein:decreased expression:aqueous humor RGD PMID:21834929 RGD:5147910 NCBI chr 8:101,640,938...101,645,683
Ensembl chr 8:101,640,944...101,645,609 		JBrowse link
G MEIS2 Meis homeobox 2 susceptibility ISO DNA:SNP::rs28480457(human) RGD PMID:29452408 RGD:155630591 NCBI chr 1:134,013,642...134,223,013
Ensembl chr 1:134,013,820...134,223,012 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase no_association
susceptibility		 ISO DNA:SNPs: : 677C>T, 1298A>C (human)
DNA:SNP: :677C>T(human)		 RGD PMID:15808177 PMID:17558844 RGD:7387252 RGD:7387254 NCBI chr 6:71,863,637...71,882,118
Ensembl chr 6:71,863,637...71,881,820 		JBrowse link
G MYOC myocilin ISO ClinVar Annotator: match by term: Open-angle glaucoma ClinVar PMID:9535666 PMID:9772276 PMID:10196380 PMID:11004290 PMID:11133859 More... NCBI chr 9:114,087,370...114,098,765
Ensembl chr 9:114,087,378...114,098,745 		JBrowse link
G OPTN optineurin no_association ISO DNA:missense mutations, SNP: :multiple
DNA:polymorphism: :p.M98K (human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:11834836 PMID:14627677 PMID:16020311 PMID:19096531 PMID:21059646 More... RGD:1600995 RGD:6480509 RGD:6480510 RGD:6480513 NCBI chr10:48,532,029...48,582,952
Ensembl chr10:48,530,843...48,582,860 		JBrowse link
G PON1 paraoxonase 1 ISO DNA:missense mutations:cds:p.L55M, p.Q192R (human) RGD PMID:16411107 RGD:8547552 NCBI chr 9:74,943,646...74,974,720
Ensembl chr 9:74,926,048...74,974,723 		JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16330497 NCBI chr 9:127,850,164...127,858,866
Ensembl chr 9:127,850,015...127,858,884 		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 chr 7:25,062,772...25,071,989
Ensembl chr 7:25,062,771...25,074,843 		JBrowse link
G TMCO1 transmembrane and coiled-coil domains 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21532571 NCBI chr 4:84,961,912...85,011,139
Ensembl chr 4:84,961,819...85,017,820 		JBrowse link
G TNF tumor necrosis factor susceptibility ISO DNA:SNP: :-308G>A(rs1800629)(human) RGD PMID:20357201 RGD:7387247 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416 		JBrowse link
G TXNRD2 thioredoxin reductase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26752265 NCBI chr14:51,355,731...51,385,096
Ensembl chr14:51,356,831...51,383,262 		JBrowse link
G WDR36 WD repeat domain 36 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21059646 NCBI chr 2:115,835,099...115,907,643
Ensembl chr 2:115,861,811...115,906,304 		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 3:101,957,189...102,029,120
Ensembl chr 3:101,957,209...102,029,667 		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 2:60,636,025...60,742,120
Ensembl chr 2:60,636,047...60,742,137 		JBrowse link
G CYP1B1 cytochrome P450 family 1 subfamily B member 1 susceptibility ISO ClinVar Annotator: match by term: Congenital glaucoma | ClinVar Annotator: match by term: Glaucoma 3, primary congenital, A | ClinVar Annotator: match by term: Glaucoma, primary open angle, juvenile-onset
DNA:polymorphisms:multiple (human)
DNA:snp:cds:p.E387K (human)
DNA:missense mutations:exons:p.G61E, p.R368H, p.D374N (human)
DNA:deletion, snp:exons:g.4339delG, p.G61E (human)		 OMIM
ClinVar
RGD		 PMID:2782041 PMID:9097971 PMID:9463332 PMID:9497261 PMID:9536098 More... RGD:7800657 RGD:7800670 RGD:7800680 RGD:7800689 NCBI chr 3:102,195,743...102,205,687
Ensembl chr 3:102,195,741...102,205,683 		JBrowse link
G FOXC1 forkhead box C1 ISO OMIM:231300 MouseDO NCBI chr 7:837,088...840,593
Ensembl chr 7:837,171...838,805 		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 3:101,617,521...101,682,821
Ensembl chr 3:101,617,526...101,753,125 		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 3:101,753,330...101,795,356
Ensembl chr 3:101,753,292...101,802,062 		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 7:97,744,974...97,852,848
Ensembl chr 7:97,745,396...97,852,502 		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 chr 9:114,087,370...114,098,765
Ensembl chr 9:114,087,378...114,098,745 		JBrowse link
G PXDN peroxidasin ISO ClinVar Annotator: match by term: Glaucoma 3, primary congenital, A ClinVar PMID:25741868 NCBI chr 3:132,306,288...132,362,853
Ensembl chr 3:132,306,447...132,362,841 		JBrowse link
G TYR tyrosinase ISO OMIM:231300 MouseDO NCBI chr 9:22,517,047...22,604,290
Ensembl chr 9:22,517,047...22,604,290 		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 chr15:75,895,561...75,925,289
Ensembl chr15:75,895,526...75,929,017 		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 chr 9:114,087,370...114,098,765
Ensembl chr 9:114,087,378...114,098,745 		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 chr10:48,532,029...48,582,952
Ensembl chr10:48,530,843...48,582,860 		JBrowse link
Glaucoma 1, Open Angle, F term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASB10 ankyrin repeat and SOCS box containing 10 ISO ClinVar Annotator: match by term: Glaucoma 1, open angle, F OMIM
ClinVar		 PMID:10037570 PMID:22156576 PMID:25741868 PMID:28492532 NCBI chr18:6,039,253...6,050,335
Ensembl chr18:6,039,507...6,049,861 		JBrowse link
Glaucoma 1, Open Angle, G term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G WDR36 WD repeat domain 36 ISO ClinVar Annotator: match by term: Glaucoma 1, open angle, G | ClinVar Annotator: match by term: WDR36-related condition OMIM
ClinVar		 PMID:15677485 PMID:16723468 PMID:17353431 PMID:17563723 PMID:18172102 More... NCBI chr 2:115,835,099...115,907,643
Ensembl chr 2:115,861,811...115,906,304 		JBrowse link
Glaucoma 1, Open Angle, H term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EFEMP1 EGF containing fibulin extracellular matrix protein 1 ISO ClinVar Annotator: match by term: Glaucoma 1, open angle, H OMIM
ClinVar		 PMID:25741868 PMID:26162006 PMID:28492532 PMID:34923728 NCBI chr 3:85,407,677...85,473,251
Ensembl chr 3:85,407,677...85,473,252 		JBrowse link
Glaucoma 1, Open Angle, O term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NTF4 neurotrophin 4 ISO ClinVar Annotator: match by term: Glaucoma 1, open angle, O OMIM
ClinVar		 PMID:19765683 PMID:20215012 PMID:20463313 PMID:25741868 PMID:27535533 NCBI chr 6:54,271,244...54,288,846
Ensembl chr 6:54,271,246...54,274,092 		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 5:28,880,210...28,929,964
Ensembl chr 5:28,880,205...28,929,963 		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 member 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 3:102,195,743...102,205,687
Ensembl chr 3:102,195,741...102,205,683 		JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 ISO RGD PMID:22426483 RGD:8549773 NCBI chr11:5,620,698...5,797,095
Ensembl chr11:5,621,212...5,795,264 		JBrowse link
G KDR kinase insert domain receptor ISO RGD PMID:22426483 RGD:8549773 NCBI chr 8:41,809,116...41,856,379
Ensembl chr 8:41,809,122...41,856,336 		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 member 1 ISO ClinVar Annotator: match by term: Glaucoma of childhood ClinVar PMID:9497261 PMID:10227395 PMID:15342693 PMID:16735994 PMID:18227148 More... NCBI chr 3:102,195,743...102,205,687
Ensembl chr 3:102,195,741...102,205,683 		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 chr 3:85,407,677...85,473,251
Ensembl chr 3:85,407,677...85,473,252 		JBrowse link
G FOXC1 forkhead box C1 ISO ClinVar Annotator: match by term: Glaucoma of childhood ClinVar PMID:32832252 NCBI chr 7:837,088...840,593
Ensembl chr 7:837,171...838,805 		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 7:97,744,974...97,852,848
Ensembl chr 7:97,745,396...97,852,502 		JBrowse link
G MYOC myocilin susceptibility ISO ClinVar Annotator: match by term: Glaucoma 1, open angle, A | ClinVar Annotator: match by term: Glaucoma of childhood | ClinVar Annotator: match by term: MYOC-Related Disorders | ClinVar Annotator: match by term: Primary open angle glaucoma juvenile onset 1
DNA:nonsense mutation, missense mutation, snps:exon, intron, 3' utr:multiple (human)		 OMIM
ClinVar
RGD		 PMID:3756132 PMID:6770678 PMID:8513321 PMID:9005853 PMID:9328473 More... RGD:7401192 NCBI chr 9:114,087,370...114,098,765
Ensembl chr 9:114,087,378...114,098,745 		JBrowse link
G PAX6 paired box 6 ISO MouseDO NCBI chr 2:28,971,565...29,001,149
Ensembl chr 2:28,978,287...29,001,200 		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 chr14:124,400,330...124,401,739
Ensembl chr14:124,400,330...124,401,739 		JBrowse link
G APOE apolipoprotein E susceptibility ISO DNA:polymorphism:exon: RGD PMID:16778644 RGD:7495800 NCBI chr 6:51,373,113...51,375,333
Ensembl chr 6:51,372,292...51,375,330 		JBrowse link
G BDNF brain derived neurotrophic factor ISO protein:increased expression:tear: RGD PMID:19861219 RGD:8655604 NCBI chr 2:32,623,668...32,679,293
Ensembl chr 2:32,624,048...32,679,765 		JBrowse link
G CAV1 caveolin 1 no_association ISO DNA:SNP:promoter:rs4236601 (human) RGD PMID:23743525 RGD:8661774 NCBI chr18:29,648,120...29,682,451
Ensembl chr18:29,649,992...29,682,465 		JBrowse link
G CAV2 caveolin 2 susceptibility ISO DNA:SNP: :rs1052990 (human) RGD PMID:23743525 RGD:8661774 NCBI chr18:29,699,012...29,707,277
Ensembl chr18:29,699,020...29,707,277 		JBrowse link
G CRP C-reactive protein, pentraxin-related no_association ISO protein:increased expression:plasma: RGD PMID:16148587 PMID:22966842 RGD:9491770 RGD:9491771 NCBI chr 4:90,793,361...90,801,020
Ensembl chr 4:90,793,350...90,805,218 		JBrowse link
G EDN1 endothelin 1 ISO protein:increased expression:plasma (human) RGD PMID:21946544 RGD:8661736 NCBI chr 7:8,752,018...8,758,354
Ensembl chr 7:8,751,695...8,758,348 		JBrowse link
G HSPD1 heat shock protein family D (Hsp60) member 1 ISO RGD PMID:20858111 RGD:10402863 NCBI chr15:101,360,355...101,373,498
Ensembl chr15:101,360,094...101,373,526 		JBrowse link
G MYOC myocilin susceptibility ISO DNA:Haplotype: : RGD PMID:16148883 RGD:7771548 NCBI chr 9:114,087,370...114,098,765
Ensembl chr 9:114,087,378...114,098,745 		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
MouseDO		 PMID:15226658 PMID:15557444 PMID:16148883 RGD:7771548 RGD:7775041 RGD:7775043 NCBI chr10:48,532,029...48,582,952
Ensembl chr10:48,530,843...48,582,860 		JBrowse link
G SLC1A1 solute carrier family 1 member 1 ISO CTD Direct Evidence: marker/mechanism
OMIM:606657		 CTD
MouseDO		 PMID:28703795 NCBI chr 1:217,366,493...217,441,643
Ensembl chr 1:217,366,499...217,441,674 		JBrowse link
G SLC1A3 solute carrier family 1 member 3 ISO OMIM:606657 MouseDO NCBI chr16:21,873,691...21,965,315
Ensembl chr16:21,873,691...21,964,990 		JBrowse link
G SOD1 superoxide dismutase 1 ISO protein:decreased expression:serum (human)
OMIM:606657		 RGD
MouseDO		 PMID:21421868 RGD:8655579 NCBI chr13:195,326,573...195,335,273
Ensembl chr13:195,326,649...195,337,729 		JBrowse link
G TLR4 toll like receptor 4 no_association
susceptibility		 ISO DNA:polymorphisms:multiple:
DNA:polymorphism,haplotype:multiple:		 RGD PMID:21921986 PMID:22831837 RGD:7794768 RGD:7794769 NCBI chr 1:258,044,610...258,054,641
Ensembl chr 1:258,044,610...258,058,970 		JBrowse link
G TNF tumor necrosis factor ISO DNA:polymorphism, haplotype:promoter: -863C>A (human) RGD PMID:15557444 RGD:7775041 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416 		JBrowse link
G TP53 tumor protein p53 susceptibility ISO DNA:polymorphism:cds:p.R72P(rs1042522)(human) RGD PMID:20357201 RGD:7387247 NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818 		JBrowse link
pigment dispersion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL18A1 collagen type XVIII alpha 1 chain ISO OMIM:600510 MouseDO NCBI chr13:207,907,835...207,984,082
Ensembl chr13:207,940,948...207,982,938 		JBrowse link
G GPNMB glycoprotein nmb ISO OMIM:600510 MouseDO NCBI chr 9:92,037,428...92,071,501
Ensembl chr 9:92,037,509...92,071,499 		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 chr15:64,749,478...64,891,653
Ensembl chr15:64,750,796...64,891,544 		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 2:70,734,234...70,751,205
Ensembl chr 2:70,730,172...70,751,837 		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 1:138,619,701...139,015,681
Ensembl chr 1:138,619,706...139,015,473 		JBrowse link
G ADIPOQ adiponectin, C1Q and collagen domain containing ISO DNA:SNP: :rs2241766 (human) RGD PMID:22553514 RGD:8547563 NCBI chr13:124,633,906...124,646,237
Ensembl chr13:124,633,685...124,646,646 		JBrowse link
G ADRB2 adrenoceptor beta 2 onset ISO DNA:polymprphism:cds:p.R16G(human) RGD PMID:16785856 RGD:8548468 NCBI chr 2:150,032,649...150,035,591
Ensembl chr 2:150,033,579...150,040,731 		JBrowse link
G APOE apolipoprotein E susceptibility
no_association		 ISO DNA:polymorphism:exon:
DNA:polymorphisms:promoter:		 RGD PMID:15525904 PMID:17706090 RGD:7495787 RGD:7771556 NCBI chr 6:51,373,113...51,375,333
Ensembl chr 6:51,372,292...51,375,330 		JBrowse link
G BDNF brain derived neurotrophic factor ISO protein:decreased expression:serum: RGD PMID:21076359 RGD:8655612 NCBI chr 2:32,623,668...32,679,293
Ensembl chr 2:32,624,048...32,679,765 		JBrowse link
G CAMK1D calcium/calmodulin dependent protein kinase ID ISO ClinVar Annotator: match by term: Primary open angle glaucoma ClinVar PMID:28492532 NCBI chr10:59,199,541...59,630,191
Ensembl chr10:59,204,724...59,630,285 		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 5:10,290,697...10,317,224
Ensembl chr 5:10,284,139...10,316,720 		JBrowse link
G CAV1 caveolin 1 no_association ISO DNA:SNP:promoter:rs4236601 (human)
DNA:SNPs: :multiple		 RGD PMID:20835238 PMID:22876122 PMID:24572674 RGD:8661770 RGD:8661776 RGD:8661783 NCBI chr18:29,648,120...29,682,451
Ensembl chr18:29,649,992...29,682,465 		JBrowse link
G CAV2 caveolin 2 ISO DNA:SNPs: :rs10278782, rs1052990 (human) RGD PMID:24572674 RGD:8661770 NCBI chr18:29,699,012...29,707,277
Ensembl chr18:29,699,020...29,707,277 		JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A no_association
susceptibility		 ISO DNA:polymorphism:cds:p.S31R(human) RGD PMID:14738489 PMID:15807891 RGD:8661806 RGD:8661807 NCBI chr 7:32,354,776...32,363,771
Ensembl chr 7:32,359,455...32,363,761 		JBrowse link
G COL6A3 collagen type VI alpha 3 chain ISO DNA:SNP:CDS:D563, rs112913396 (human) RGD PMID:34143713 RGD:401851036 NCBI chr15:137,011,549...137,103,687
Ensembl chr15:137,011,433...137,103,709 		JBrowse link
G CYP1B1 cytochrome P450 family 1 subfamily B member 1 severity
susceptibility		 ISO DNA:snp:cds:p.N453S (human)
ClinVar Annotator: match by term: Primary open angle glaucoma
DNA:snp:cds:p.L432V (human)
DNA:snp, missense mutations, haplotype:promoter, cds:multiple (human)
DNA:missense mutations:exons:p.P193L, p.E229K, p.M292K (human)		 RGD
ClinVar		 PMID:10655546 PMID:15342693 PMID:16319821 PMID:17563717 PMID:18055790 More... RGD:7800658 RGD:7800664 RGD:7800695 RGD:7800696 NCBI chr 3:102,195,743...102,205,687
Ensembl chr 3:102,195,741...102,205,683 		JBrowse link
G EDN1 endothelin 1 ISO protein:increased expression:plasma (human) RGD PMID:22406080 RGD:8661676 NCBI chr 7:8,752,018...8,758,354
Ensembl chr 7:8,751,695...8,758,348 		JBrowse link
G ELN elastin ISO RGD PMID:1526740 RGD:9585735 NCBI chr 3:11,214,194...11,245,891
Ensembl chr 3:11,214,205...11,244,897 		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 1:193,823,666...193,907,330
Ensembl chr 1:193,829,560...193,906,565 		JBrowse link
G GLUL glutamate-ammonia ligase ISO protein:increases expression:aqueous humor RGD PMID:22974818 RGD:401794589 NCBI chr 9:123,751,551...123,762,575
Ensembl chr 9:123,751,548...123,762,547 		JBrowse link
G GUCY1A1 guanylate cyclase 1 soluble subunit alpha 1 ISO OMIM:137760 MouseDO NCBI chr 8:44,448,758...44,520,737
Ensembl chr 8:44,449,290...44,518,135 		JBrowse link
G LAMB2 laminin subunit beta 2 ISO DNA:SNP:CDS:E987K, rs34759087 (human) RGD PMID:34143713 RGD:401851036 NCBI chr13:31,738,282...31,750,623
Ensembl chr13:31,738,286...31,750,833 		JBrowse link
G LOC100510975 coiled-coil domain-containing protein 3 ISO ClinVar Annotator: match by term: Primary open angle glaucoma ClinVar PMID:28492532 NCBI chr10:59,052,979...59,144,791
Ensembl chr10:59,052,915...59,144,797 		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:18223248 PMID:19098994 RGD:7387330 RGD:7394723 NCBI chr 7:59,481,410...59,505,161
Ensembl chr 7:59,481,412...59,505,149 		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 7:97,744,974...97,852,848
Ensembl chr 7:97,745,396...97,852,502 		JBrowse link
G MBL2 mannose binding lectin 2 ISO protein:increased expression:serum: RGD PMID:22335808 RGD:8693705 NCBI chr14:97,103,926...97,107,635
Ensembl chr14:97,102,823...97,108,083 		JBrowse link
G MCM10 minichromosome maintenance 10 replication initiation factor ISO ClinVar Annotator: match by term: Primary open angle glaucoma ClinVar PMID:28492532 NCBI chr10:48,481,292...48,523,921
Ensembl chr10:48,480,705...48,538,952 		JBrowse link
G MMP1 matrix metallopeptidase 1 no_association ISO DNA:SNP:promoter:rs1799750 (human)
DNA:insertion:promoter:g.-1607insG rs1799750 (human)		 RGD PMID:20808730 PMID:23441116 RGD:8549724 RGD:8549725 NCBI chr 9:33,411,738...33,420,205
Ensembl chr 9:33,411,065...33,420,076 		JBrowse link
G MMP9 matrix metallopeptidase 9 no_association ISO DNA:insertion: :p.Q279R (rs17576) (human) RGD PMID:20808730 RGD:8549725 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788 		JBrowse link
G MYOC myocilin severity
susceptibility
no_association		 ISO DNA:snp:promoter:g.-1000C>G (human)
ClinVar Annotator: match by term: Primary open angle glaucoma
DNA:snps, deletion:cds:p.G326S, p.T286R, p.Y453MfsX11 (human)
DNA:snp:cds:pT377M (human)
DNA:snp:cds:p.G367R (human)
DNA:snps:cds:multiple (human)
DNA:snps:cds:p.G12R, p.V53A, p.T353I (human)		 RGD
ClinVar		 PMID:9005853 PMID:9639450 PMID:10815160 PMID:11004290 PMID:11292420 More... RGD:1600842 RGD:7401163 RGD:7401168 RGD:7401170 RGD:7401189 RGD:7401240 RGD:7401245 NCBI chr 9:114,087,370...114,098,765
Ensembl chr 9:114,087,378...114,098,745 		JBrowse link
G NOS3 nitric oxide synthase 3 susceptibility
no_association		 ISO DNA:duplication:intron:IVS4?-?+27 (human)
DNA:snp:promoter:g.-690C>T (human)
associated with Hypertension;DNA:snp:promoter:g.-786T>C (rs2070744) (human)
DNA:snp:intron:g.IVS15+1759C>A (rs3918188) (human)
DNA:snps, haplotype:promoter, intron:g.-457C>T, g.IVS5+1182G>A (rs11771443, rs3793342) (human)
High Tension;DNA:snps:promoter, intron:g.-786T>C, g.IVS15+1759C>A (rs3918188) (human)
DNA:snps, haplotype:promoter, cds:g.-786T>C, p.E298D (human)		 RGD PMID:9493554 PMID:19815736 PMID:20069064 PMID:21245953 PMID:21670344 More... RGD:7771542 RGD:7771543 RGD:7771573 RGD:7771575 RGD:7775039 RGD:7775055 NCBI chr18:6,209,218...6,228,912
Ensembl chr18:6,209,158...6,228,943 		JBrowse link
G OGG1 8-oxoguanine DNA glycosylase ISO DNA:SNP: :p.S326C (human) RGD PMID:23499241 RGD:8657152 NCBI chr13:66,038,669...66,045,478 JBrowse link
G OPA1 OPA1 mitochondrial dynamin like GTPase no_association ISO DNA:polymorphism:intron:IVS8+4C>T (human)
DNA:SNPs:exons, introns:multiple
DNA:SNPs: :rs166850, rs10451941 (human)
mRNA:decreased expression:blood, leukocyte		 RGD PMID:16785854 PMID:17188046 PMID:18079692 PMID:21552501 RGD:7800685 RGD:7800713 RGD:7800718 RGD:7800721 NCBI chr13:130,624,771...130,718,345
Ensembl chr13:130,624,796...130,719,083 		JBrowse link
G OPTN optineurin no_association
susceptibility		 ISO DNA:SNPs:cds:p.T34T,E50K,M98K,R545Q, 691_692insAG,
ClinVar Annotator: match by term: Primary open angle glaucoma
DNA:polymorphisms, haplotype:exons:c.412G>A,603T>A(human)
DNA:polymorphism:exon:p.M98K(human)		 RGD
ClinVar
OMIM		 PMID:9536098 PMID:11834836 PMID:11978762 PMID:12208142 PMID:12789137 More... RGD:7775041 RGD:7775043 RGD:7775049 NCBI chr10:48,532,029...48,582,952
Ensembl chr10:48,530,843...48,582,860 		JBrowse link
G PON1 paraoxonase 1 susceptibility ISO DNA:snp:cds:p.Q192R (rs662) (human) RGD PMID:22553514 RGD:8547563 NCBI chr 9:74,943,646...74,974,720
Ensembl chr 9:74,926,048...74,974,723 		JBrowse link
G SOD2 superoxide dismutase 2 susceptibility ISO DNA:polymorphism: :rs2842980(human) RGD PMID:23638916 RGD:8158079 NCBI chr 1:7,679,352...7,689,564
Ensembl chr 1:7,679,352...7,689,560 		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 5:28,880,210...28,929,964
Ensembl chr 5:28,880,205...28,929,963 		JBrowse link
G THBS1 thrombospondin 1 ISO DNA:SNP:CDS:N700S, rs2228262 (human) RGD PMID:34143713 RGD:401851036 NCBI chr 1:131,728,781...131,746,098
Ensembl chr 1:131,728,784...131,746,115 		JBrowse link
G TLR4 toll like receptor 4 susceptibility ISO DNA:polymorphism,haplotype:multiple: RGD PMID:22831837 RGD:7794768 NCBI chr 1:258,044,610...258,054,641
Ensembl chr 1:258,044,610...258,058,970 		JBrowse link
G TNF tumor necrosis factor ISO DNA:polymorphisms, haplotype:promoter:-857C>T, -863C>A (human) RGD PMID:15557444 RGD:7775041 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416 		JBrowse link
G TP53 tumor protein p53 susceptibility ISO DNA:polymorphism:cds:p.R72P(human) RGD PMID:23049825 RGD:8547822 NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818 		JBrowse link
G WDR36 WD repeat domain 36 susceptibility
no_association		 ISO DNA:polymorphisms:cds:p.D658G, N355S, A449T and R529Q (human)
ClinVar Annotator: match by term: Primary open angle glaucoma
DNA:polymorphism:cds:p.D658G		 RGD
ClinVar		 PMID:15677485 PMID:16876519 PMID:25741868 PMID:28492532 RGD:8548465 RGD:8548466 NCBI chr 2:115,835,099...115,907,643
Ensembl chr 2:115,861,811...115,906,304 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17412
    sensory system disease 6507
      eye disease 3325
        glaucoma 165
          open-angle glaucoma 77
            Glaucoma with Elevated Episcleral Venous Pressure 0
            hydrophthalmos + 12
            low tension glaucoma 16
            pigment dispersion syndrome 2
            primary open angle glaucoma + 46
            residual stage of open angle glaucoma 0
Path 2
Term Annotations click to browse term
  disease 17412
    disease of anatomical entity 14873
      cardiovascular system disease 4328
        vascular disease 3053
          artery disease 2018
            hypertension 1013
              ocular hypertension 181
                glaucoma 165
                  open-angle glaucoma 77
                    Glaucoma with Elevated Episcleral Venous Pressure 0
                    hydrophthalmos + 12
                    low tension glaucoma 16
                    pigment dispersion syndrome 2
                    primary open angle glaucoma + 46
                    residual stage of open angle glaucoma 0
paths to the root