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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 chr18:55,642,459...55,644,501
Ensembl chr18:55,502,903...55,644,512 		JBrowse link
G Afap1 actin filament associated protein 1 susceptibility ISO DNA:SNPs: :rs4619890,rs4478172(human) RGD PMID:25173105 RGD:13673886 NCBI chr14:74,743,322...74,856,300
Ensembl chr14:74,743,320...74,856,263 		JBrowse link
G Apoc3 apolipoprotein C3 ISO protein:increased expression: aqueous humor: RGD PMID:23860758 RGD:10054092 NCBI chr 8:46,531,478...46,533,658
Ensembl chr 8:46,531,478...46,533,583 		JBrowse link
G Apoe apolipoprotein E susceptibility ISO RGD PMID:16110302 RGD:7495786 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932 		JBrowse link
G Atxn2 ataxin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26752265 NCBI chr12:34,754,132...34,851,175
Ensembl chr12:34,754,137...34,851,479 		JBrowse link
G Cav1 caveolin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20835238 NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705 		JBrowse link
G Cav2 caveolin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20835238 NCBI chr 4:45,616,766...45,624,144
Ensembl chr 4:45,616,712...45,624,244 		JBrowse link
G Cdkn2b cyclin-dependent kinase inhibitor 2B disease_progression ISO DNA:SNP: :rs1063192 (human) RGD PMID:22840486 RGD:8548689 NCBI chr 5:104,009,839...104,019,082
Ensembl chr 5:104,010,680...104,019,050 		JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO RGD PMID:15161848 RGD:8552673 NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624 		JBrowse link
G Fndc3b fibronectin type III domain containing 3B ISO CTD Direct Evidence: marker/mechanism CTD PMID:23291589 NCBI chr 2:110,311,439...110,617,504
Ensembl chr 2:110,312,694...110,547,830 		JBrowse link
G Foxc1 forkhead box C1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26752265 NCBI chr17:32,631,379...32,635,361
Ensembl chr17:32,633,142...32,634,803 		JBrowse link
G Gmds GDP-mannose 4, 6-dehydratase susceptibility ISO DNA:SNPs: :rs11969985,rs2761233(human) RGD PMID:25173105 RGD:13673886 NCBI chr17:32,095,315...32,621,975
Ensembl chr17:32,095,386...32,621,961 		JBrowse link
G Il10 interleukin 10 ISO RGD PMID:23788371 RGD:7364852 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313 		JBrowse link
G Il2 interleukin 2 ISO protein:decreased expression:aqueous humor RGD PMID:21834929 RGD:5147910 NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566 		JBrowse link
G Meis2 Meis homeobox 2 susceptibility ISO DNA:SNP::rs28480457(human) RGD PMID:29452408 RGD:155630591 NCBI chr 3:102,742,904...102,944,833
Ensembl chr 3:102,742,900...102,949,696 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility
no_association		 ISO DNA:SNP: :677C>T(human)
DNA:SNPs: : 677C>T, 1298A>C (human)		 RGD PMID:15808177 PMID:17558844 RGD:7387252, RGD:7387254 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797 		JBrowse link
G Myoc myocilin ISO DNA:missense mutation:cds:p.K423E (human)
ClinVar Annotator: match by term: Open-angle glaucoma
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:9535666 PMID:9772276 PMID:10196380 PMID:11133859 PMID:11803488 More... RGD:7401194 NCBI chr13:74,976,730...74,987,128
Ensembl chr13:74,976,730...74,987,127 		JBrowse link
G Optn optineurin no_association ISO CTD Direct Evidence: marker/mechanism
DNA:missense mutations, SNP: :multiple
DNA:polymorphism: :p.M98K (human)		 CTD
RGD		 PMID:21059646 PMID:25096716 PMID:11834836 PMID:19096531 PMID:14627677 More... RGD:1600995, RGD:6480513, RGD:6480510, RGD:6480509 NCBI chr17:73,209,572...73,260,251
Ensembl chr17:73,209,575...73,260,251 		JBrowse link
G Pon1 paraoxonase 1 ISO DNA:missense mutations:cds:p.L55M, p.Q192R (human) RGD PMID:16411107 RGD:8547552 NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16330497 NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188 		JBrowse link
G Tap1 transporter 1, ATP binding cassette subfamily B member susceptibility ISO DNA:SNPs: :p. I333V, D637G (human) RGD PMID:15887980 RGD:6482266 NCBI chr20:4,656,262...4,666,634
Ensembl chr20:4,656,263...4,666,901 		JBrowse link
G Tmco1 transmembrane and coiled-coil domains 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21532571 NCBI chr13:79,460,229...79,483,557
Ensembl chr13:79,460,135...79,483,555 		JBrowse link
G Tnf tumor necrosis factor susceptibility ISO DNA:SNP: :-308G>A(rs1800629)(human) RGD PMID:20357201 RGD:7387247 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Txnrd2 thioredoxin reductase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26752265 NCBI chr11:82,519,996...82,568,156
Ensembl chr11:82,519,999...82,568,156 		JBrowse link
G Wdr36 WD repeat domain 36 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21059646 NCBI chr18:24,473,657...24,501,773
Ensembl chr18:24,473,663...24,508,092 		JBrowse link
buphthalmos term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atl2 atlastin GTPase 2 ISO ClinVar Annotator: match by term: Congenital glaucoma ClinVar PMID:9097971 PMID:9497261 PMID:19234632 PMID:28492532 PMID:31251480 NCBI chr 6:15,139,071...15,180,421
Ensembl chr 6:15,139,044...15,180,421 		JBrowse link
G Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 susceptibility ISO
ISS		 OMIM:231300
CTD Direct Evidence: marker/mechanism
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: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
MouseDO
CTD
ClinVar
RGD		 PMID:2782041 PMID:9097971 PMID:9463332 PMID:9497261 PMID:9536098 More... RGD:7800719, RGD:7800711, RGD:7800707, RGD:7800689, RGD:7800688, RGD:7800680, RGD:7800670, RGD:7800657, RGD:734869 NCBI chr 6:15,342,312...15,350,886
Ensembl chr 6:15,342,344...15,350,917 		JBrowse link
G Foxc1 forkhead box C1 ISS OMIM:231300 MouseDO NCBI chr17:32,631,379...32,635,361
Ensembl chr17:32,633,142...32,634,803 		JBrowse link
G Galm galactose mutarotase ISO ClinVar Annotator: match by term: Congenital glaucoma ClinVar PMID:9097971 PMID:9497261 PMID:19234632 PMID:28492532 PMID:31251480 NCBI chr 6:14,837,540...14,889,484
Ensembl chr 6:14,837,548...14,889,310 		JBrowse link
G Hnrnpll heterogeneous nuclear ribonucleoprotein L-like ISO ClinVar Annotator: match by term: Congenital glaucoma ClinVar PMID:9097971 PMID:9497261 PMID:19234632 PMID:28492532 PMID:31251480 NCBI chr 6:14,969,953...15,000,574
Ensembl chr 6:14,970,057...14,999,745 		JBrowse link
G Ltbp2 latent transforming growth factor beta binding protein 2 ISO ClinVar Annotator: match by term: Glaucoma 3, primary congenital, A ClinVar PMID:19656777 NCBI chr 6:104,429,947...104,530,498
Ensembl chr 6:104,429,947...104,526,208 		JBrowse link
G Myoc myocilin ISO ClinVar Annotator: match by term: Glaucoma 3, primary congenital, a, digenic ClinVar PMID:12447164 PMID:15025728 PMID:15723004 PMID:15733270 PMID:16288197 More... NCBI chr13:74,976,730...74,987,128
Ensembl chr13:74,976,730...74,987,127 		JBrowse link
G Tyr tyrosinase ISS OMIM:231300 MouseDO NCBI chr 1:141,115,036...141,210,207
Ensembl chr 1:141,115,036...141,210,207 		JBrowse link
Glaucoma 1, Open Angle, B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fastkd1 FAST kinase domains 1 ISO ClinVar Annotator: match by term: Glaucoma 1, open angle, B ClinVar NCBI chr 3:54,449,710...54,475,624
Ensembl chr 3:54,449,711...54,475,540 		JBrowse link
Glaucoma 1, Open Angle, E term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myoc myocilin ISO ClinVar Annotator: match by term: Glaucoma 1, open angle, E ClinVar PMID:9535666 PMID:9804137 PMID:10196380 PMID:10545602 PMID:10798654 More... NCBI chr13:74,976,730...74,987,128
Ensembl chr13:74,976,730...74,987,127 		JBrowse link
G Optn optineurin ISO ClinVar Annotator: match by term: Glaucoma 1, open angle, E | ClinVar Annotator: match by term: Glaucoma 1, open angle, e ClinVar PMID:11834836 PMID:11978762 PMID:12208142 PMID:12939304 PMID:14597044 More... NCBI chr17:73,209,572...73,260,251
Ensembl chr17:73,209,575...73,260,251 		JBrowse link
Glaucoma 1, Open Angle, F term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asb10 ankyrin repeat and SOCS box-containing 10 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Glaucoma 1, open angle, F		 OMIM
CTD
ClinVar		 PMID:10037570 PMID:22156576 PMID:25741868 PMID:28492532 NCBI chr 4:10,630,318...10,644,270
Ensembl chr 4:10,630,448...10,639,060 		JBrowse link
Glaucoma 1, Open Angle, G term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wdr36 WD repeat domain 36 ISO ClinVar Annotator: match by term: Glaucoma 1, open angle, G
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:15677485 PMID:16723468 PMID:17353431 PMID:17563723 PMID:18172102 More... NCBI chr18:24,473,657...24,501,773
Ensembl chr18:24,473,663...24,508,092 		JBrowse link
Glaucoma 1, Open Angle, 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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:19765683 PMID:20215012 PMID:20463313 PMID:25741868 PMID:27535533 NCBI chr 1:95,893,560...95,896,391
Ensembl chr 1:95,893,457...95,897,243 		JBrowse link
Glaucoma 1, Open Angle, P term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbk1 TANK-binding kinase 1 ISO ClinVar Annotator: match by term: Glaucoma 1, open angle, P ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 7:57,077,830...57,110,868
Ensembl chr 7:57,077,830...57,110,892 		JBrowse link
hydrophthalmos term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 ISO DNA:insertion, deletions:exons, intron:g.1209_1214insC, g.1410_1422del, g.1389-?-1422+?del (human) RGD PMID:9097971 RGD:1599716 NCBI chr 6:15,342,312...15,350,886
Ensembl chr 6:15,342,344...15,350,917 		JBrowse link
G Flt1 Fms related receptor tyrosine kinase 1 ISO RGD PMID:22426483 RGD:8549773 NCBI chr12:7,296,899...7,468,626
Ensembl chr12:7,297,292...7,468,626 		JBrowse link
G Kdr kinase insert domain receptor ISO RGD PMID:22426483 RGD:8549773 NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018 		JBrowse link
juvenile glaucoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 ISO ClinVar Annotator: match by term: Glaucoma of childhood ClinVar PMID:9497261 PMID:10227395 PMID:15342693 PMID:16735994 PMID:18227148 More... NCBI chr 6:15,342,312...15,350,886
Ensembl chr 6:15,342,344...15,350,917 		JBrowse link
G Efemp1 EGF containing fibulin extracellular matrix protein 1 ISO ClinVar Annotator: match by term: Glaucoma of childhood ClinVar NCBI chr14:102,610,813...102,690,027
Ensembl chr14:102,610,908...102,690,018 		JBrowse link
G Foxc1 forkhead box C1 ISO ClinVar Annotator: match by term: Glaucoma of childhood ClinVar PMID:32832252 NCBI chr17:32,631,379...32,635,361
Ensembl chr17:32,633,142...32,634,803 		JBrowse link
G Ltbp2 latent transforming growth factor beta binding protein 2 ISO ClinVar Annotator: match by term: Glaucoma of childhood ClinVar PMID:24033266 NCBI chr 6:104,429,947...104,530,498
Ensembl chr 6:104,429,947...104,526,208 		JBrowse link
G Myoc myocilin susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Glaucoma 1, open angle, A | ClinVar Annotator: match by term: Glaucoma of childhood | ClinVar Annotator: match by term: MYOC-Related Disorders
DNA:snp:cds:pD380A (human)
DNA:snp:cds:pC245Y (human)
DNA:nonsense mutation, missense mutation, snps:exon, intron, 3' utr:multiple (human)
DNA:missense mutations, nonsense mutation:cds:multiple (human)
DNA:snp:cds:p.D384N (human)
DNA:snp:cds:p.Y371D (human)
DNA:snp:cds:p.N450Y (human)
DNA:snp:cds:p.V251A (human)
DNA:insertion:cds:p.D395_E396insDP (human)
DNA:snps:cds:p.P370L, p.Y437H (human)
DNA:snp:cds:pT377R (human)		 OMIM
CTD
ClinVar
RGD		 PMID:3756132 PMID:6770678 PMID:8513321 PMID:9005853 PMID:9328473 More... RGD:7401248, RGD:7401247, RGD:7401192, RGD:7401186, RGD:7394848, RGD:7394834, RGD:7394828, RGD:7394800, RGD:7394798, RGD:7394788, RGD:7394787 NCBI chr13:74,976,730...74,987,128
Ensembl chr13:74,976,730...74,987,127 		JBrowse link
G Pax6 paired box 6 ISS MouseDO NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014 		JBrowse link
low tension glaucoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adrb1 adrenoceptor beta 1 susceptibility ISO DNA:polymorphism:cds:p.R389G(human) RGD PMID:16785856 RGD:8548468 NCBI chr 1:255,771,962...255,774,973
Ensembl chr 1:255,771,597...255,807,259 		JBrowse link
G Apoe apolipoprotein E susceptibility ISO DNA:polymorphism:exon: RGD PMID:16778644 RGD:7495800 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932 		JBrowse link
G Bdnf brain-derived neurotrophic factor ISO protein:increased expression:tear: RGD PMID:19861219 RGD:8655604 NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615 		JBrowse link
G Cav1 caveolin 1 no_association ISO DNA:SNP:promoter:rs4236601 (human) RGD PMID:23743525 RGD:8661774 NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705 		JBrowse link
G Cav2 caveolin 2 susceptibility ISO DNA:SNP: :rs1052990 (human) RGD PMID:23743525 RGD:8661774 NCBI chr 4:45,616,766...45,624,144
Ensembl chr 4:45,616,712...45,624,244 		JBrowse link
G Crp C-reactive protein no_association ISO protein:increased expression:plasma: RGD PMID:16148587 PMID:22966842 RGD:9491770, RGD:9491771 NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178 		JBrowse link
G Edn1 endothelin 1 ISO protein:increased expression:plasma (human) RGD PMID:21946544 RGD:8661736 NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885 		JBrowse link
G Hspd1 heat shock protein family D (Hsp60) member 1 IDA RGD PMID:20858111 RGD:10402863 NCBI chr 9:56,579,195...56,590,011
Ensembl chr 9:56,579,201...56,589,662 		JBrowse link
G Myoc myocilin susceptibility ISO DNA:Haplotype: : RGD PMID:16148883 RGD:7771548 NCBI chr13:74,976,730...74,987,128
Ensembl chr13:74,976,730...74,987,127 		JBrowse link
G Optn optineurin susceptibility ISO
ISS		 DNA:SNPs:exon,introns:
DNA:polymorphism:exon:p.M98K(human)
DNA:polymorphisms, haplotype:exons:c.412G>A,603T>A(human)		 MouseDO
RGD		 PMID:16148883 PMID:15226658 PMID:15557444 RGD:7771548, RGD:7775043, RGD:7775041 NCBI chr17:73,209,572...73,260,251
Ensembl chr17:73,209,575...73,260,251 		JBrowse link
G Slc1a1 solute carrier family 1 member 1 ISO
ISS		 CTD Direct Evidence: marker/mechanism CTD
MouseDO		 PMID:28703795 NCBI chr 1:226,549,932...226,631,925
Ensembl chr 1:226,549,842...226,630,402 		JBrowse link
G Slc1a3 solute carrier family 1 member 3 ISS OMIM:606657 MouseDO NCBI chr 2:57,755,495...57,830,605
Ensembl chr 2:57,755,497...57,830,605 		JBrowse link
G Sod1 superoxide dismutase 1 ISO
ISS		 protein:decreased expression:serum (human)
OMIM:606657		 MouseDO
RGD		 PMID:21421868 RGD:8655579 NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249 		JBrowse link
G Tlr4 toll-like receptor 4 susceptibility
no_association		 ISO DNA:polymorphism,haplotype:multiple:
DNA:polymorphisms:multiple:		 RGD PMID:22831837 PMID:21921986 RGD:7794768, RGD:7794769 NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628 		JBrowse link
G Tnf tumor necrosis factor ISO DNA:polymorphism, haplotype:promoter: -863C>A (human) RGD PMID:15557444 RGD:7775041 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Tp53 tumor protein p53 susceptibility ISO DNA:polymorphism:cds:p.R72P(rs1042522)(human) RGD PMID:20357201 RGD:7387247 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
pigment dispersion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col18a1 collagen type XVIII alpha 1 chain ISS OMIM:600510 MouseDO NCBI chr20:11,474,104...11,582,593
Ensembl chr20:11,474,104...11,582,593 		JBrowse link
G Gpnmb glycoprotein nmb ISS OMIM:600510 MouseDO NCBI chr 4:78,010,247...78,031,491
Ensembl chr 4:78,010,197...78,049,367 		JBrowse link
primary open angle glaucoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acvr1 activin A receptor type 1 ISO DNA:SNP:3'utr: (rs12997) RGD PMID:33443061 RGD:329328928 NCBI chr 3:42,978,558...43,097,892
Ensembl chr 3:42,978,561...43,098,241 		JBrowse link
G Adamts10 ADAM metallopeptidase with thrombospondin type 1 motif, 10 ISO Glaucoma, primary open angle, ADAMTS10-related OMIA PMID:924743 PMID:1428571 PMID:2764345 PMID:2764346 PMID:2925324 More... NCBI chr 7:14,331,659...14,361,620
Ensembl chr 7:14,331,745...14,361,620 		JBrowse link
G Adamts17 ADAM metallopeptidase with thrombospondin type 1 motif, 17 ISO Glaucoma, primary open angle, ADAMTS17-related OMIA PMID:26277300 PMID:26456751 PMID:26474315 PMID:26683476 PMID:26945802 More... NCBI chr 1:120,445,800...120,768,204
Ensembl chr 1:120,445,749...120,768,202 		JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing ISO DNA:SNP: :rs2241766 (human) RGD PMID:22553514 RGD:8547563 NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564 		JBrowse link
G Adrb2 adrenoceptor beta 2 onset ISO DNA:polymprphism:cds:p.R16G(human) RGD PMID:16785856 RGD:8548468 NCBI chr18:55,642,459...55,644,501
Ensembl chr18:55,502,903...55,644,512 		JBrowse link
G Apoe apolipoprotein E no_association
susceptibility		 ISO DNA:polymorphisms:promoter:
DNA:polymorphism:exon:		 RGD PMID:15525904 PMID:17706090 RGD:7495787, RGD:7771556 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932 		JBrowse link
G Bdnf brain-derived neurotrophic factor ISO protein:decreased expression:serum: RGD PMID:21076359 RGD:8655612 NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615 		JBrowse link
G Camk1d calcium/calmodulin-dependent protein kinase ID ISO ClinVar Annotator: match by term: Primary open angle glaucoma ClinVar PMID:28492532 NCBI chr17:72,581,899...72,982,704
Ensembl chr17:72,581,979...72,980,556 		JBrowse link
G Card10 caspase recruitment domain family, member 10 ISO ClinVar Annotator: match by term: Primary open angle glaucoma ClinVar PMID:27896285 NCBI chr 7:110,330,460...110,371,551
Ensembl chr 7:110,330,408...110,359,224 		JBrowse link
G Cav1 caveolin 1 no_association ISO DNA:SNPs: :multiple
DNA:SNP:promoter:rs4236601 (human)		 RGD PMID:24572674 PMID:20835238 PMID:22876122 RGD:8661770, RGD:8661783, RGD:8661776 NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705 		JBrowse link
G Cav2 caveolin 2 ISO DNA:SNPs: :rs10278782, rs1052990 (human) RGD PMID:24572674 RGD:8661770 NCBI chr 4:45,616,766...45,624,144
Ensembl chr 4:45,616,712...45,624,244 		JBrowse link
G Ccdc3 coiled-coil domain containing 3 ISO ClinVar Annotator: match by term: Primary open angle glaucoma ClinVar PMID:28492532 NCBI chr17:73,031,891...73,135,173
Ensembl chr17:73,035,045...73,135,337 		JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A susceptibility
no_association		 ISO DNA:polymorphism:cds:p.S31R(human) RGD PMID:14738489 PMID:15807891 RGD:8661807, RGD:8661806 NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585 		JBrowse link
G Col6a3 collagen type VI alpha 3 chain ISO DNA:SNP:CDS:D563, rs112913396 (human) RGD PMID:34143713 RGD:401851036 NCBI chr 9:91,361,578...91,439,434
Ensembl chr 9:91,361,583...91,439,471 		JBrowse link
G Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 susceptibility
severity		 ISO DNA:snp:cds:p.L432V (human)
ClinVar Annotator: match by term: Primary open angle glaucoma
DNA:snp, missense mutations, haplotype:promoter, cds:multiple (human)
DNA:missense mutations:exons:p.P193L, p.E229K, p.M292K (human)
DNA:snp:cds:p.N453S (human)		 ClinVar
RGD		 PMID:10655546 PMID:15342693 PMID:18470941 PMID:19234632 PMID:22004014 More... RGD:7800658, RGD:7800696, RGD:7800695, RGD:7800664 NCBI chr 6:15,342,312...15,350,886
Ensembl chr 6:15,342,344...15,350,917 		JBrowse link
G Edn1 endothelin 1 ISO protein:increased expression:plasma (human) RGD PMID:22406080 RGD:8661676 NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885 		JBrowse link
G Eln elastin ISO RGD PMID:1526740 RGD:9585735 NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928 		JBrowse link
G Esr2 estrogen receptor 2 severity ISO DNA:SNPs, haplotypes
DNA:snps:introns: IVS3 T>C, IVS8 A>G (rs1256031, rs4986938) (human)		 RGD PMID:18195227 PMID:20399928 RGD:8553056, RGD:8694092 NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919 		JBrowse link
G Glul glutamate-ammonia ligase ISO protein:increases expression:aqueous humor RGD PMID:22974818 RGD:401794589 NCBI chr13:65,969,053...66,035,121
Ensembl chr13:66,025,630...66,035,108 		JBrowse link
G Gstm1 glutathione S-transferase mu 1 susceptibility
no_association		 ISO DNA:deletion:cds (human) RGD PMID:11040079 PMID:12873455 RGD:7488947, RGD:7488948 NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411 		JBrowse link
G Gstt1 glutathione S-transferase theta 1 susceptibility
no_association		 ISO DNA:deletion, haplotype:cds (human)
DNA:deletion:cds (human)		 RGD PMID:23747403 PMID:23206929 PMID:23827458 RGD:7794820, RGD:7794825, RGD:7794823 NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585 		JBrowse link
G Gucy1a1 guanylate cyclase 1 soluble subunit alpha 1 ISS OMIM:137760 MouseDO NCBI chr 2:167,418,615...167,482,293
Ensembl chr 2:167,418,640...167,481,671 		JBrowse link
G Lamb2 laminin subunit beta 2 ISO DNA:SNP:CDS:E987K, rs34759087 (human) RGD PMID:34143713 RGD:401851036 NCBI chr 8:109,178,367...109,190,552
Ensembl chr 8:109,178,409...109,190,549 		JBrowse link
G Loxl1 lysyl oxidase-like 1 no_association ISO DNA:SNP, haplotype: :rs1048661, rs2165241, rs3825942 (human)
DNA:SNPs: :rs1048661, rs2165241, rs3825942 (human)		 RGD PMID:19098994 PMID:18223248 RGD:7387330, RGD:7394723 NCBI chr 8:58,691,763...58,716,365
Ensembl chr 8:58,692,593...58,716,356 		JBrowse link
G Ltbp2 latent transforming growth factor beta binding protein 2 ISO ClinVar Annotator: match by term: Primary open angle glaucoma ClinVar PMID:23401661 PMID:25741868 PMID:26425313 PMID:28492532 NCBI chr 6:104,429,947...104,530,498
Ensembl chr 6:104,429,947...104,526,208 		JBrowse link
G Mbl2 mannose binding lectin 2 ISO protein:increased expression:serum: RGD PMID:22335808 RGD:8693705 NCBI chr 1:228,016,439...228,024,736 JBrowse link
G Mcm10 minichromosome maintenance 10 replication initiation factor ISO ClinVar Annotator: match by term: Primary open angle glaucoma ClinVar PMID:28492532 NCBI chr17:73,263,788...73,288,346
Ensembl chr17:73,266,095...73,287,364 		JBrowse link
G Mmp1 matrix metallopeptidase 1 no_association ISO DNA:SNP:promoter:rs1799750 (human)
DNA:insertion:promoter:g.-1607insG rs1799750 (human)		 RGD PMID:23441116 PMID:20808730 RGD:8549724, RGD:8549725 NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097 		JBrowse link
G Mmp9 matrix metallopeptidase 9 no_association ISO DNA:insertion: :p.Q279R (rs17576) (human) RGD PMID:20808730 RGD:8549725 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Myoc myocilin severity
no_association
susceptibility		 ISO DNA:snp:promoter:g.-1000C>G (human)
ClinVar Annotator: match by term: Primary open angle glaucoma
protein:increased expression:aqueous humor
DNA:snps:cds:p.A363T (human)
DNA:snp:cds:pT377M (human)
DNA:snps:cds:multiple (human)
DNA:snps:promoter:g.-126T>G, g.-78T>G, g.-77G>A (human)
DNA:snp:cds:p.G367R (human)
DNA:snps, deletion:cds:p.G326S, p.T286R, p.Y453MfsX11 (human)
DNA:snp:cds:p.G252R (human)
DNA:snps:cds:p.G12R, p.V53A, p.T353I (human)
DNA:snp:cds:p.Q48H (human)
DNA:silent mutation, deletion:cds:p.F336F, c.1084delG (human)
DNA:mutations:multiple (human)
DNA:snps:cds:p.T209N, p.L215Q (human)
Y437H;human gene in mouse model
DNA:snps:cds:p.G357V, p.Q361X, p.Y430H (human)		 ClinVar
RGD		 PMID:9005853 PMID:9639450 PMID:10815160 PMID:11004290 PMID:11292420 More... RGD:1600842, RGD:7401171, RGD:7401254, RGD:7401251, RGD:7401245, RGD:7401240, RGD:7401189, RGD:7401175, RGD:7401170, RGD:7401168, RGD:7401164, RGD:7401163, RGD:7394843, RGD:7394841, RGD:7394816, RGD:7394814, RGD:7394801, RGD:7394792, RGD:7394791, RGD:7394789, RGD:1600838, RGD:1600840 NCBI chr13:74,976,730...74,987,128
Ensembl chr13:74,976,730...74,987,127 		JBrowse link
G Nos3 nitric oxide synthase 3 susceptibility
no_association		 ISO associated with Hypertension;DNA:snp:promoter:g.-786T>C (rs2070744) (human)
DNA:snps, haplotype:promoter, cds:g.-786T>C, p.E298D (human)
DNA:snp:intron:g.IVS15+1759C>A (rs3918188) (human)
DNA:snps, haplotype:promoter, intron:g.-457C>T, g.IVS5+1182G>A (rs11771443, rs3793342) (human)
DNA:snp:promoter:g.-690C>T (human)
DNA:duplication:intron:IVS4?-?+27 (human)
High Tension;DNA:snps:promoter, intron:g.-786T>C, g.IVS15+1759C>A (rs3918188) (human)		 RGD PMID:21670344 PMID:22561696 PMID:21245953 PMID:21245953 PMID:9493554 More... RGD:7771542, RGD:7775055, RGD:7775039, RGD:7775039, RGD:7771575, RGD:7771573, RGD:7771543 NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166 		JBrowse link
G Ogg1 8-oxoguanine DNA glycosylase ISO DNA:SNP: :p.S326C (human) RGD PMID:23499241 RGD:8657152 NCBI chr 4:146,474,701...146,481,959
Ensembl chr 4:146,474,750...146,484,766 		JBrowse link
G Opa1 OPA1, mitochondrial dynamin like GTPase no_association ISO DNA:polymorphism:intron:IVS8+4C>T (human)
DNA:SNPs: :rs166850, rs10451941 (human)
mRNA:decreased expression:blood, leukocyte
DNA:SNPs:exons, introns:multiple		 RGD PMID:17188046 PMID:18079692 PMID:21552501 PMID:16785854 RGD:7800685, RGD:7800721, RGD:7800718, RGD:7800713 NCBI chr11:71,108,100...71,185,170
Ensembl chr11:71,109,873...71,185,109 		JBrowse link
G Optn optineurin susceptibility
no_association		 ISO DNA:polymorphisms, haplotype:exons:c.412G>A,603T>A(human)
ClinVar Annotator: match by term: Primary open angle glaucoma
DNA:SNPs:cds:p.T34T,E50K,M98K,R545Q, 691_692insAG,
DNA:polymorphism:exon:p.M98K(human)		 OMIM
ClinVar
RGD		 PMID:9536098 PMID:11834836 PMID:11978762 PMID:12208142 PMID:12789137 More... RGD:7775041, RGD:7775049, RGD:7775043 NCBI chr17:73,209,572...73,260,251
Ensembl chr17:73,209,575...73,260,251 		JBrowse link
G Pon1 paraoxonase 1 susceptibility ISO DNA:snp:cds:p.Q192R (rs662) (human) RGD PMID:22553514 RGD:8547563 NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360 		JBrowse link
G Sod2 superoxide dismutase 2 susceptibility ISO DNA:polymorphism: :rs2842980(human) RGD PMID:23638916 RGD:8158079 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189 		JBrowse link
G Tbk1 TANK-binding kinase 1 ISO ClinVar Annotator: match by term: Primary open angle glaucoma ClinVar PMID:25700176 PMID:25803835 PMID:26476236 PMID:26581300 PMID:28492532 NCBI chr 7:57,077,830...57,110,868
Ensembl chr 7:57,077,830...57,110,892 		JBrowse link
G Thbs1 thrombospondin 1 ISO DNA:SNP:CDS:N700S, rs2228262 (human) RGD PMID:34143713 RGD:401851036 NCBI chr 3:105,056,293...105,071,445
Ensembl chr 3:105,056,292...105,071,440 		JBrowse link
G Tlr4 toll-like receptor 4 susceptibility ISO DNA:polymorphism,haplotype:multiple: RGD PMID:22831837 RGD:7794768 NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628 		JBrowse link
G Tnf tumor necrosis factor ISO DNA:polymorphisms, haplotype:promoter:-857C>T, -863C>A (human) RGD PMID:15557444 RGD:7775041 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Tp53 tumor protein p53 susceptibility ISO DNA:polymorphism:cds:p.R72P(human) RGD PMID:23049825 RGD:8547822 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
G Wdr36 WD repeat domain 36 no_association
susceptibility		 ISO ClinVar Annotator: match by term: Primary open angle glaucoma
DNA:polymorphism:cds:p.D658G
DNA:polymorphisms:cds:p.D658G, N355S, A449T and R529Q (human)		 ClinVar
RGD		 PMID:25741868 PMID:28492532 PMID:16723468 PMID:16876519 PMID:15677485 RGD:8548463, RGD:8548466, RGD:8548465 NCBI chr18:24,473,657...24,501,773
Ensembl chr18:24,473,663...24,508,092 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21122
    sensory system disease 6884
      eye disease 3446
        glaucoma 168
          open-angle glaucoma 77
            Glaucoma with Elevated Episcleral Venous Pressure 0
            hydrophthalmos + 10
            low tension glaucoma 16
            pigment dispersion syndrome 2
            primary open angle glaucoma + 48
            residual stage of open angle glaucoma 0
Path 2
Term Annotations click to browse term
  disease 21122
    disease of anatomical entity 18162
      cardiovascular system disease 5356
        vascular disease 3964
          artery disease 2779
            hypertension 1694
              ocular hypertension 184
                glaucoma 168
                  open-angle glaucoma 77
                    Glaucoma with Elevated Episcleral Venous Pressure 0
                    hydrophthalmos + 10
                    low tension glaucoma 16
                    pigment dispersion syndrome 2
                    primary open angle glaucoma + 48
                    residual stage of open angle glaucoma 0
paths to the root