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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:glaucoma
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Accession:DOID:1686 term browser browse the term
Definition:An ocular disease, occurring in many forms, having as its primary characteristics an unstable or a sustained increase in the intraocular pressure which the eye cannot withstand without damage to its structure or impairment of its function. The consequences of the increased pressure may be manifested in a variety of symptoms, depending upon type and severity, such as excavation of the optic disk, hardness of the eyeball, corneal anesthesia, reduced visual acuity, seeing of colored halos around lights, disturbed dark adaptation, visual field defects, and headaches. (Dictionary of Visual Science, 4th ed)
Synonyms:exact_synonym: Glaucomas
 primary_id: MESH:D005901;   RDO:0000524
 xref: ICD10CM:H40;   ICD9CM:365;   NCI:C26782
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
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 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
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 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:19234632, 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:24281366, PMID:24940937, PMID:25091052, PMID:25109919, 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: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
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 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 OMIM:609887
ClinVar Annotator: match by term: Glaucoma 1, open angle, G
OMIM
ClinVar
PMID:15677485, PMID:17353431, PMID:18172102, 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 OMIM:613100 OMIM
ClinVar
PMID:19765683, PMID:20215012, 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:19234632, PMID:19536304, PMID:19597567, PMID:19643970, PMID:19744731, PMID:21081970, PMID:21168818, PMID:22004014, PMID:23028769, PMID:23218701, PMID:23922489, PMID:24033266, PMID:24281366, 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 16108
    sensory system disease 5162
      eye disease 2593
        glaucoma 145
          Absent Eyebrows and Eyelashes with Mental Retardation 0
          Ackerman Syndrome 0
          Bowen Syndrome 0
          Dyssegmental Dysplasia with Glaucoma 0
          Early-Onset Glaucoma + 1
          Friedreich Ataxia Congenital Glaucoma 0
          Ghose Sachdev Kumar Syndrome 0
          Glaucoma 3, Primary Infantile, B 3
          Glaucoma and Sleep Apnea 0
          Iris Hypoplasia and Glaucoma 0
          Lowry Maclean syndrome 0
          MacKay Shek Carr Syndrome 0
          Microcornea, Glaucoma, and Absent Frontal Sinuses 0
          Microspherophakia + 1
          Normal Tension Glaucoma 2
          Peters Anomaly with Cataract 0
          Proximal Renal Tubular Acidosis, with Ocular Abnormalities and Mental Retardation 1
          Spastic Paresis, Glaucoma, and Mental Retardation 0
          Tetralogy of Fallot and Glaucoma 0
          Weill-Marchesani Syndrome 2 1
          absolute glaucoma 0
          angle-closure glaucoma + 21
          anterior segment dysgenesis 3 1
          anterior segment dysgenesis 4 1
          aqueous misdirection 0
          borderline glaucoma + 0
          glaucomatous atrophy of optic disc 0
          hypersecretion glaucoma 0
          neovascular glaucoma 3
          open-angle glaucoma + 67
          phacogenic glaucoma + 21
          primary congenital glaucoma + 9
          steroid-induced glaucoma + 0
          traumatic glaucoma 0
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      cardiovascular system disease 4484
        vascular disease 3415
          artery disease 2364
            hypertension 1493
              ocular hypertension 161
                glaucoma 145
                  Absent Eyebrows and Eyelashes with Mental Retardation 0
                  Ackerman Syndrome 0
                  Bowen Syndrome 0
                  Dyssegmental Dysplasia with Glaucoma 0
                  Early-Onset Glaucoma + 1
                  Friedreich Ataxia Congenital Glaucoma 0
                  Ghose Sachdev Kumar Syndrome 0
                  Glaucoma 3, Primary Infantile, B 3
                  Glaucoma and Sleep Apnea 0
                  Iris Hypoplasia and Glaucoma 0
                  Lowry Maclean syndrome 0
                  MacKay Shek Carr Syndrome 0
                  Microcornea, Glaucoma, and Absent Frontal Sinuses 0
                  Microspherophakia + 1
                  Normal Tension Glaucoma 2
                  Peters Anomaly with Cataract 0
                  Proximal Renal Tubular Acidosis, with Ocular Abnormalities and Mental Retardation 1
                  Spastic Paresis, Glaucoma, and Mental Retardation 0
                  Tetralogy of Fallot and Glaucoma 0
                  Weill-Marchesani Syndrome 2 1
                  absolute glaucoma 0
                  angle-closure glaucoma + 21
                  anterior segment dysgenesis 3 1
                  anterior segment dysgenesis 4 1
                  aqueous misdirection 0
                  borderline glaucoma + 0
                  glaucomatous atrophy of optic disc 0
                  hypersecretion glaucoma 0
                  neovascular glaucoma 3
                  open-angle glaucoma + 67
                  phacogenic glaucoma + 21
                  primary congenital glaucoma + 9
                  steroid-induced glaucoma + 0
                  traumatic glaucoma 0
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.