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: primary open angle glaucoma
Accession: DOID:1070
browse the term
Definition: An open-angle glaucoma that is characterized by the absence of any apparent obstruction of aqueous outflow through the trabecular meshwork with gonioscopy, but often with elevated intraocular pressure. (DO)
Synonyms: exact_synonym: POAG; chronic simple glaucoma
narrow_synonym: GLAUCOMA 1, OPEN ANGLE, E; GLC1E; primary open angle glaucoma, ADAMTS10-related; primary open angle glaucoma, adult-onset
primary_id: MESH:C562750
alt_id: OMIA:001870; OMIA:001976; OMIM:137760
xref: ICD10CM:H40.11 ; ICD9CM:365.11 ; NCI:C35394
For additional species annotation, visit the
Alliance of Genome Resources .
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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
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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 PMID:3710885 PMID:7212410 PMID:7325430 PMID:7720807 PMID:18435660 PMID:21379321 PMID:22524196 PMID:23422823 PMID:23518772 PMID:25372548 PMID:26277300 PMID:26456751 PMID:27212875 PMID:27271467 PMID:27681326 PMID:29708978 PMID:36855027 PMID:37582787 PMID:38130820 More...
NCBI chr 7:14,331,659...14,361,620
Ensembl chr 7:14,331,745...14,361,620
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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 PMID:27192202 PMID:27681326 PMID:28176809 PMID:29287154 PMID:31131111 PMID:37582787 More...
NCBI chr 1:120,445,800...120,768,204
Ensembl chr 1:120,445,749...120,768,202
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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
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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
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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
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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
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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
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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
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Cav1
caveolin 1
no_association
ISO
DNA:SNPs: :multiple DNA:SNP:promoter:rs4236601 (human)
RGD
PMID:24572674 PMID:22876122 PMID:20835238
RGD:8661770 , RGD:8661776 , RGD:8661783
NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705
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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
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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
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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
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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
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Cyp1b1
cytochrome P450, family 1, subfamily b, polypeptide 1
susceptibility severity
ISO
DNA:snp:cds:p.L432V (human) DNA:snp:cds:p.N453S (human) DNA:missense mutations:exons:p.P193L, p.E229K, p.M292K (human) DNA:snp, missense mutations, haplotype:promoter, cds:multiple (human) ClinVar Annotator: match by term: Primary open angle glaucoma
ClinVar RGD
PMID:10655546 PMID:15342693 PMID:18470941 PMID:19234632 PMID:22004014 PMID:24281366 PMID:25741868 PMID:26550445 PMID:27508083 PMID:27777502 PMID:28492532 PMID:30520782 PMID:18483560 PMID:16319821 PMID:17563717 PMID:18055790 More...
RGD:7800658 , RGD:7800664 , RGD:7800695 , RGD:7800696
NCBI chr 6:15,342,312...15,350,886
Ensembl chr 6:15,342,344...15,350,917
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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
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Eln
elastin
ISO
RGD
PMID:1526740
RGD:9585735
NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928
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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
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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
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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
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Gstt1
glutathione S-transferase theta 1
susceptibility no_association
ISO
DNA:deletion, haplotype:cds (human) DNA:deletion:cds (human)
RGD
PMID:23747403 PMID:23827458 PMID:23206929
RGD:7794820 , RGD:7794823 , RGD:7794825
NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
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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
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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
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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
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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
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Mbl2
mannose binding lectin 2
ISO
protein:increased expression:serum:
RGD
PMID:22335808
RGD:8693705
NCBI chr 1:228,016,439...228,024,736
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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
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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
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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
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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 PMID:11535458 PMID:11803488 PMID:11815346 PMID:12189160 PMID:12522550 PMID:12872267 PMID:17562996 PMID:17615537 PMID:19023451 PMID:20021252 PMID:22933836 PMID:23029558 PMID:23304066 PMID:24732711 PMID:25741868 PMID:26396484 PMID:28492532 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 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
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Nos3
nitric oxide synthase 3
susceptibility no_association
ISO
associated with Hypertension;DNA:snp:promoter:g.-786T>C (rs2070744) (human) High Tension;DNA:snps:promoter, intron:g.-786T>C, g.IVS15+1759C>A (rs3918188) (human) DNA:duplication:intron:IVS4?-?+27 (human) DNA:snp:promoter:g.-690C>T (human) DNA:snps, haplotype:promoter, intron:g.-457C>T, g.IVS5+1182G>A (rs11771443, rs3793342) (human) DNA:snp:intron:g.IVS15+1759C>A (rs3918188) (human) DNA:snps, haplotype:promoter, cds:g.-786T>C, p.E298D (human)
RGD
PMID:21670344 PMID:19815736 PMID:20069064 PMID:9493554 PMID:21245953 PMID:21245953 PMID:22561696 More...
RGD:7771542 , RGD:7771543 , RGD:7771573 , RGD:7771575 , RGD:7775039 , RGD:7775039 , RGD:7775055
NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
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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
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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
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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 PMID:12939304 PMID:14597044 PMID:15226658 PMID:15312511 PMID:15326130 PMID:15370540 PMID:15547491 PMID:15557444 PMID:15761120 PMID:16148883 PMID:16199547 PMID:16205626 PMID:16358725 PMID:16619239 PMID:16681888 PMID:16885925 PMID:16972651 PMID:17122126 PMID:17293779 PMID:17359525 PMID:17389490 PMID:17576681 PMID:17615537 PMID:19096531 PMID:19145250 PMID:19172505 PMID:19672125 PMID:19710941 PMID:20388642 PMID:20428114 PMID:20671613 PMID:20981092 PMID:21074290 PMID:21217154 PMID:21220178 PMID:21408173 PMID:21550138 PMID:21613650 PMID:21802176 PMID:21852022 PMID:22366792 PMID:22402017 PMID:22708870 PMID:22722621 PMID:22892313 PMID:22995991 PMID:23062601 PMID:23138764 PMID:23357852 PMID:23447461 PMID:24683533 PMID:24983867 PMID:25333069 PMID:25382069 PMID:25588603 PMID:25640679 PMID:25681989 PMID:25741868 PMID:25943890 PMID:26203661 PMID:26303227 PMID:26467025 PMID:26503823 PMID:26566915 PMID:26740678 PMID:27485216 PMID:27620379 PMID:28089114 PMID:28492532 PMID:28882891 PMID:29411640 PMID:29525178 PMID:29525180 PMID:29540704 PMID:29558868 PMID:29650794 PMID:29895397 PMID:30519240 PMID:30672142 PMID:30739198 PMID:31000212 PMID:31108397 PMID:31198474 PMID:31759189 PMID:31788332 PMID:31838784 PMID:32028661 PMID:32397312 PMID:32579787 PMID:32893042 PMID:33770234 PMID:35896380 PMID:36133075 PMID:36570531 PMID:15557444 PMID:19172505 PMID:15226658 More...
RGD:7775041 , RGD:7775049 , RGD:7775043
NCBI chr17:73,209,572...73,260,251
Ensembl chr17:73,209,575...73,260,251
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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
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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
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Tbk1
TANK-binding kinase 1
ISO
ClinVar Annotator: match by term: Primary open angle glaucoma
ClinVar
PMID:25700176 PMID:25741868 PMID:25803835 PMID:26476236 PMID:26581300 PMID:28492532 More...
NCBI chr 7:57,077,830...57,110,868
Ensembl chr 7:57,077,830...57,110,892
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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
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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
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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
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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
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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
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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
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Myoc
myocilin
ISO
ClinVar Annotator: match by term: Glaucoma 1, open angle, E
ClinVar
PMID:9535666 PMID:9804137 PMID:10545602 PMID:10798654 PMID:10980537 PMID:11298682 PMID:11604506 PMID:11774072 PMID:12189160 PMID:14688426 PMID:15851979 PMID:16466712 PMID:17438518 PMID:17615537 PMID:18776955 PMID:19145250 PMID:21552496 PMID:21612213 PMID:21850185 PMID:22933836 PMID:25741868 PMID:28492532 PMID:35196929 More...
NCBI chr13:74,976,730...74,987,128
Ensembl chr13:74,976,730...74,987,127
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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 PMID:15226658 PMID:15312511 PMID:15326130 PMID:15370540 PMID:15547491 PMID:15557444 PMID:15761120 PMID:16148883 PMID:16199547 PMID:16205626 PMID:16619239 PMID:16885925 PMID:17293779 PMID:17359525 PMID:17389490 PMID:19145250 PMID:19172505 PMID:19672125 PMID:20428114 PMID:20671613 PMID:20981092 PMID:21217154 PMID:21220178 PMID:22402017 PMID:22708870 PMID:22722621 PMID:22892313 PMID:22995991 PMID:23062601 PMID:24683533 PMID:25333069 PMID:25741868 PMID:26467025 PMID:26566915 PMID:26740678 PMID:27485216 PMID:28492532 PMID:29411640 PMID:29525178 PMID:30519240 PMID:30739198 PMID:31108397 PMID:31198474 More...
NCBI chr17:73,209,572...73,260,251
Ensembl chr17:73,209,575...73,260,251
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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
G
Wdr36
WD repeat domain 36
ISO
ClinVar Annotator: match by term: Glaucoma 1, open angle, G | ClinVar Annotator: match by term: WDR36-related condition CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:15677485 PMID:16723468 PMID:17353431 PMID:17563723 PMID:18172102 PMID:19150991 PMID:22995991 PMID:25333069 PMID:25741868 PMID:28492532 More...
NCBI chr18:24,473,657...24,501,773
Ensembl chr18:24,473,663...24,508,092
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Efemp1
EGF containing fibulin extracellular matrix protein 1
ISO
ClinVar Annotator: match by term: Glaucoma 1, open angle, H CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:25741868 PMID:26162006 PMID:28492532 PMID:34923728
NCBI chr14:102,610,813...102,690,027
Ensembl chr14:102,610,908...102,690,018
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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
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
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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 PMID:18414103 PMID:18537981 PMID:21081970 PMID:21600657 PMID:21854771 PMID:23218183 PMID:23218701 PMID:24033266 PMID:25109919 PMID:25741868 PMID:27243976 PMID:27272408 PMID:27820421 PMID:28492532 PMID:32832252 More...
NCBI chr 6:15,342,312...15,350,886
Ensembl chr 6:15,342,344...15,350,917
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Efemp1
EGF containing fibulin extracellular matrix protein 1
ISO
ClinVar Annotator: match by term: Glaucoma of childhood
ClinVar
PMID:28492532 PMID:34923728
NCBI chr14:102,610,813...102,690,027
Ensembl chr14:102,610,908...102,690,018
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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
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Ltbp2
latent transforming growth factor beta binding protein 2
ISO
ClinVar Annotator: match by term: Glaucoma of childhood
ClinVar
PMID:19361779 PMID:19656777 PMID:22025892 PMID:24033266 PMID:28492532
NCBI chr 6:104,429,947...104,530,498
Ensembl chr 6:104,429,947...104,526,208
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Myoc
myocilin
susceptibility
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Glaucoma 1, open angle, A | ClinVar Annotator: match by term: Glaucoma of childhood | ClinVar Annotator: match by term: MYOC-Related Disorders | ClinVar Annotator: match by term: Primary open angle glaucoma juvenile onset 1 DNA:snp:cds:pD380A (human) DNA:snp:cds:pC245Y (human) DNA:nonsense mutation, missense mutation, snps:exon, intron, 3' utr:multiple (human) DNA:missense mutations, nonsense mutation:cds:multiple (human) DNA:snp:cds:p.D384N (human) DNA:snp:cds:p.Y371D (human) DNA:snp:cds:p.N450Y (human) DNA:snp:cds:p.V251A (human) DNA:insertion:cds:p.D395_E396insDP (human) DNA:snps:cds:p.P370L, p.Y437H (human) DNA:snp:cds:pT377R (human)
OMIM CTD ClinVar RGD
PMID:3756132 PMID:6770678 PMID:8513321 PMID:9005853 PMID:9328473 PMID:9345106 PMID:9361308 PMID:9510647 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:11152659 PMID:11281418 PMID:11292420 PMID:11298682 PMID:11535458 PMID:11604506 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:15069026 PMID:15723004 PMID:15733270 PMID:15790895 PMID:15851979 PMID:16148883 PMID:16288197 PMID:16297911 PMID:16401791 PMID:16466712 PMID:16636654 PMID:17210859 PMID:17438518 PMID:17499207 PMID:17562996 PMID:17563717 PMID:17615537 PMID:17867509 PMID:17893664 PMID:18728751 PMID:18776955 PMID:19023451 PMID:19145250 PMID:19234343 PMID:20021252 PMID:21552496 PMID:21612213 PMID:21850185 PMID:22194650 PMID:22736945 PMID:22933836 PMID:23029558 PMID:23304066 PMID:23922489 PMID:24033266 PMID:24732711 PMID:24825108 PMID:25741868 PMID:25777973 PMID:26396484 PMID:26633542 PMID:27092720 PMID:27485216 PMID:28492532 PMID:30484747 PMID:32818018 PMID:35196929 PMID:35615698 PMID:17893668 PMID:16401791 PMID:17893664 PMID:12442283 PMID:19234343 PMID:19784393 PMID:20806035 PMID:23517641 PMID:23566828 PMID:9792882 PMID:23886590 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
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Pax6
paired box 6
ISS
MouseDO
NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all
Path 1
disease
18969
sensory system disease
6961
eye disease
3492
glaucoma
170
open-angle glaucoma
79
primary open angle glaucoma
48
Glaucoma 1, Open Angle, B
1
Glaucoma 1, Open Angle, C
0
Glaucoma 1, Open Angle, D
0
Glaucoma 1, Open Angle, E
2
Glaucoma 1, Open Angle, F
1
Glaucoma 1, Open Angle, G
1
Glaucoma 1, Open Angle, H
1
Glaucoma 1, Open Angle, I
0
Glaucoma 1, Open Angle, J
0
Glaucoma 1, Open Angle, K
0
Glaucoma 1, Open Angle, M
0
Glaucoma 1, Open Angle, N
0
Glaucoma 1, Open Angle, O +
1
Glaucoma 1, Open Angle, P
1
juvenile glaucoma
6
Path 2
disease
18969
disease of anatomical entity
18249
cardiovascular system disease
5412
vascular disease
4012
artery disease
2825
hypertension
1728
ocular hypertension
186
glaucoma
170
open-angle glaucoma
79
primary open angle glaucoma
48
Glaucoma 1, Open Angle, B
1
Glaucoma 1, Open Angle, C
0
Glaucoma 1, Open Angle, D
0
Glaucoma 1, Open Angle, E
2
Glaucoma 1, Open Angle, F
1
Glaucoma 1, Open Angle, G
1
Glaucoma 1, Open Angle, H
1
Glaucoma 1, Open Angle, I
0
Glaucoma 1, Open Angle, J
0
Glaucoma 1, Open Angle, K
0
Glaucoma 1, Open Angle, M
0
Glaucoma 1, Open Angle, N
0
Glaucoma 1, Open Angle, O +
1
Glaucoma 1, Open Angle, P
1
juvenile glaucoma
6