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.
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Acsm3
acyl-CoA synthetase medium-chain family member 3
IEP
mRNA, protein:increased expression:retina, muller cell
RGD
PMID:17102796
RGD:1601004
NCBI chr 1:189,514,504...189,541,233
Ensembl chr 1:189,514,553...189,541,224
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Apoa1
apolipoprotein A1
IEP
protein:increased expression:retina
RGD
PMID:18626730
RGD:2303613
NCBI chr 8:50,525,091...50,526,875
Ensembl chr 8:50,525,091...50,526,875
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Aqp4
aquaporin 4
ISO
RGD
PMID:22943863
RGD:8698651
NCBI chr18:6,766,009...6,782,757
Ensembl chr18:6,765,945...6,782,996
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Bcl2l1
Bcl2-like 1
IEP
mRNA:increased expression:retina
RGD
PMID:17640403
RGD:1643493
NCBI chr 3:148,259,594...148,314,191
Ensembl chr 3:148,259,596...148,313,810
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Bmp4
bone morphogenetic protein 4
ISO
RGD
PMID:11722794
RGD:8698668
NCBI chr15:20,776,060...20,791,013
Ensembl chr15:20,776,054...20,822,740
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C1qb
complement C1q B chain
IEP
mRNA:increased expression:retina
RGD
PMID:16677633
RGD:1599509
NCBI chr 5:155,246,444...155,251,995
Ensembl chr 5:155,246,447...155,252,003
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C3
complement C3
IEP
mRNA, protein:increased expression:retina
RGD
PMID:16677633
RGD:1599509
NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
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Cdkn1a
cyclin-dependent kinase inhibitor 1A
ISO
RGD
PMID:14985792
RGD:8661805
NCBI chr20:6,348,422...6,358,864
Ensembl chr20:6,351,458...6,358,864
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Col1a1
collagen type I alpha 1 chain
ISO
RGD
PMID:19797236
RGD:8552669
NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
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Cryaa
crystallin, alpha A
IEP
protein:decreased expression:retina
RGD
PMID:18626730
RGD:2303613
NCBI chr20:10,438,444...10,442,189
Ensembl chr20:10,438,444...10,442,187
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Cryba1
crystallin, beta A1
IEP
mRNA:decreased expression:retina
RGD
PMID:17102796
RGD:1601004
NCBI chr10:65,160,777...65,167,504
Ensembl chr10:65,161,152...65,167,494
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Ddit3
DNA-damage inducible transcript 3
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:24691439
NCBI chr 7:70,578,564...70,585,074
Ensembl chr 7:70,580,198...70,585,084
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Fas
Fas cell surface death receptor
IEP
protein:increased expression:retina, microglial cell
RGD
PMID:17045251
RGD:1600312
NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
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Gli1
GLI family zinc finger 1
IEP
mRNA, protein:increased expression:retinal ganglion cell
RGD
PMID:20071678
RGD:2324982
NCBI chr 7:70,620,794...70,633,171
Ensembl chr 7:70,620,766...70,630,338
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Mmp1
matrix metallopeptidase 1
treatment
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:20089869 , PMID:20089869
RGD:8549723
NCBI chr 8:5,703,206...5,723,593
Ensembl chr 8:5,703,206...5,723,591
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Mmp2
matrix metallopeptidase 2
IEP
mRNA, protein:increased expression:eye
RGD
PMID:19575923
RGD:2325732
NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
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Mmp9
matrix metallopeptidase 9
IEP
mRNA, protein:increased expression:eye
RGD
PMID:19575923
RGD:2325732
NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
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Myoc
myocilin
treatment
ISO IEP
mRNA:decreased expression:eye, trabecular mesh (mouse) mRNA:increased expression:retina (rat) associated with Glaucoma, Primary Open Angle; DNA:snp:cds:p.T377M (human)
RGD
PMID:23322580 , PMID:17102796 , PMID:20107173 , PMID:23322580
RGD:7394804 , RGD:1601004 , RGD:7394831 , RGD:7394804
NCBI chr13:80,517,531...80,527,928
Ensembl chr13:80,517,536...80,527,928
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Nr3c1
nuclear receptor subfamily 3, group C, member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17563720
NCBI chr18:31,728,373...32,704,022
Ensembl chr18:31,728,373...31,749,647
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Opa1
OPA1, mitochondrial dynamin like GTPase
IEP
mRNA, protein:increased expression:retina
RGD
PMID:21220562
RGD:7800684
NCBI chr11:74,717,600...74,793,902
Ensembl chr11:74,720,254...74,793,803
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Shh
sonic hedgehog signaling molecule
IEP
RGD
PMID:20071678
RGD:2324982
NCBI chr 4:718,538...727,691
Ensembl chr 4:718,538...727,691
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Smo
smoothened, frizzled class receptor
IEP
mRNA, protein:increased expression:retinal ganglion cell
RGD
PMID:20071678
RGD:2324982
NCBI chr 4:57,019,941...57,041,779
Ensembl chr 4:57,019,941...57,042,770
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Sod1
superoxide dismutase 1
IEP
protein:decreased expression:retina
RGD
PMID:18626730
RGD:2303613
NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
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Tpi1
triosephosphate isomerase 1
IEP
protein:decreased expression:retina
RGD
PMID:18626730
RGD:2303613
NCBI chr 4:157,328,375...157,331,905
Ensembl chr 4:157,328,379...157,331,905
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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Foxc1
forkhead box C1
ISO
ClinVar Annotator: match by term: Anterior segment dysgenesis 3 ClinVar Annotator: match by term: Iridogoniodysgenesis type1 ClinVar Annotator: match by OMIM:601631
OMIM ClinVar
PMID:9620769 PMID:9792859 PMID:11007653 PMID:11170889 PMID:12036988 PMID:19668217 PMID:19793056 PMID:25741868 PMID:28492532 PMID:32832252
NCBI chr17:33,947,501...33,951,484
Ensembl chr17:33,947,506...33,951,484
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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
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Cyp1b1
cytochrome P450, family 1, subfamily b, polypeptide 1
susceptibility
ISO
ClinVar Annotator: match by term: Glaucoma 3, primary congenital, A ClinVar Annotator: match by term: Glaucoma, congenital ClinVar Annotator: match by term: Glaucoma, primary open angle, juvenile-onset ClinVar Annotator: match by term: Congenital glaucoma ClinVar Annotator: match by OMIM:231300 DNA:missense mutation:cds:p.A388T (human) DNA:missense mutation, deletion:exon:p.R390H, g.4633delC (human) DNA:duplication:exon:g.1546-1555dupTCATGCCACC (human) DNA:missense mutations:exons:p.G61E, p.R368H, p.D374N (human) DNA:missense mutations:exons:p.G61E, p.R469W, p.R523K (human) DNA:deletion, snp:exons:g.4339delG, p.G61E (human) DNA:snp:cds:p.E387K (human) DNA:polymorphisms:multiple (human)
OMIM ClinVar
PMID:9097971 PMID:9463332 PMID:9497261 PMID:10227395 PMID:10426814 PMID:10655546 PMID:10739169 PMID:10910054 PMID:11403040 PMID:11527932 PMID:11558822 PMID:11774072 PMID:11854439 PMID:11980847 PMID:12036985 PMID:12372064 PMID:14507861 PMID:15037581 PMID:15255109 PMID:15342693 PMID:16384942 PMID:16688110 PMID:16735991 PMID:16735994 PMID:16862072 PMID:17164573 PMID:17363580 PMID:17563717 PMID:17591938 PMID:17718864 PMID:17893647 PMID:18227148 PMID:18414103 PMID:18470941 PMID:18537981 PMID:18622259 PMID:18852424 PMID:19204079 PMID:19234632 PMID:19236111 PMID:19247456 PMID:19536304 PMID:19597567 PMID:19643970 PMID:19744731 PMID:19793111 PMID:19807744 PMID:20151268 PMID:20198978 PMID:20664688 PMID:21081970 PMID:21168818 PMID:21600657 PMID:21815720 PMID:21850185 PMID:21854771 PMID:22004014 PMID:22128238 PMID:22942166 PMID:23028769 PMID:23218183 PMID:23218701 PMID:23922489 PMID:24033266 PMID:24123366 PMID:24281366 PMID:24940937 PMID:25091052 PMID:25109919 PMID:25333069 PMID:25527694 PMID:25646030 PMID:25741868 PMID:25950505 PMID:25978063 PMID:26550974 PMID:27060699 PMID:27243976 PMID:27272408 PMID:27408750 PMID:27508083 PMID:27535533 PMID:27777502 PMID:27820421 PMID:28192799 PMID:28384041 PMID:28448622 PMID:28492532 PMID:28620713 PMID:29556725 PMID:30311386 PMID:32499604 PMID:32832252 PMID:32860008 PMID:94927261 , PMID:16490498 , PMID:19247456 , PMID:12567107 , PMID:19597567 , PMID:19593207 , PMID:20664688 , PMID:10227395 , PMID:23922489 , PMID:12624268
RGD:7800719 , RGD:7800711 , RGD:7800707 , RGD:7800689 , RGD:7800688 , RGD:7800680 , RGD:7800670 , RGD:7800657 , RGD:734869
NCBI chr 6:2,308,179...2,316,739
Ensembl chr 6:2,307,808...2,316,722
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Foxc1
forkhead box C1
ISS ISO
OMIM:231300 ClinVar Annotator: match by term: Congenital glaucoma
MouseDO ClinVar
PMID:32832252
NCBI chr17:33,947,501...33,951,484
Ensembl chr17:33,947,506...33,951,484
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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
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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
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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
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Tyr
tyrosinase
ISS
OMIM:231300
MouseDO
NCBI chr 1:151,012,598...151,106,802
Ensembl chr 1:151,012,598...151,106,802
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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
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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
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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
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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
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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
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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
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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
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Eln
elastin
ISO
RGD
PMID:7777294
RGD:9585736
NCBI chr12:24,978,478...25,021,864
Ensembl chr12:24,978,483...25,021,863
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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
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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
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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
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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
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Lyst
lysosomal trafficking regulator
ISS
OMIM:177650
MouseDO
NCBI chr17:90,323,055...90,522,091
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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
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Mmp9
matrix metallopeptidase 9
no_association
ISO
DNA:insertion: :p.Q279R (rs17576) (human)
RGD
PMID:20808730
RGD:8549725
NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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Ptpn11
protein tyrosine phosphatase, non-receptor type 11
treatment
ISO IMP IEP
protein:increased phosphorylation:retina protein:increased expression,increased phosphorylation:retina
RGD
PMID:30341011 , PMID:30341011 , PMID:30341011
RGD:39456090 , RGD:39456090 , RGD:39456090
NCBI chr12:40,895,515...40,955,999
Ensembl chr12:40,895,515...40,955,999
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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
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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
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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
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Sh3pxd2b
SH3 and PX domains 2B
ISS
MouseDO
NCBI chr10:17,209,152...17,296,449
Ensembl chr10:17,209,212...17,291,876
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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
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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
G
Wdr36
WD repeat domain 36
ISO
ClinVar Annotator: match by term: Glaucoma 1, open angle, G ClinVar Annotator: match by OMIM:609887
OMIM ClinVar
PMID:15677485 PMID:17353431 PMID:18172102 PMID:19150991 PMID:22995991 PMID:25333069 PMID:25741868
NCBI chr18:25,637,475...25,665,801
Ensembl chr18:25,637,588...25,665,639
G
Ntf4
neurotrophin 4
ISO
ClinVar Annotator: match by term: Glaucoma 1, open angle, O ClinVar Annotator: match by OMIM:613100
OMIM ClinVar
PMID:19765683 PMID:20215012 PMID:20463313 PMID:25741868 PMID:27535533
NCBI chr 1:101,405,314...101,408,145
Ensembl chr 1:101,405,314...101,408,145
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
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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
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
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
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
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
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
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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
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
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
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
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
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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
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
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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
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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
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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
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
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
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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
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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
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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
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
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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
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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
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
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
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
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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
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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
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
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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
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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
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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
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
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
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
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
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
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
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
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
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
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
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
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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
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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
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
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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
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
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
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
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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
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
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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
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
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
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
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
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
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
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
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
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
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
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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
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
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
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
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
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
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
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
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
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
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
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
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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 chr20:6,348,422...6,358,864
Ensembl chr20:6,351,458...6,358,864
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Cyp1b1
cytochrome P450, family 1, subfamily b, polypeptide 1
susceptibility severity
ISO
DNA:snp:cds:p.L432V (human) ClinVar Annotator: match by term: GLAUCOMA, PRIMARY OPEN ANGLE, ADULT-ONSET ClinVar Annotator: match by term: Primary open angle glaucoma DNA:snp, missense mutations, haplotype:promoter, cds:multiple (human) DNA:missense mutations:exons:p.P193L, p.E229K, p.M292K (human) DNA:snp:cds:p.N453S (human)
ClinVar
PMID:10655546 PMID:11403040 PMID:11774072 PMID:11980847 PMID:12036985 PMID:14507861 PMID:15342693 PMID:16688110 PMID:16735991 PMID:16735994 PMID:17563717 PMID:17591938 PMID:17718864 PMID:18470941 PMID:18622259 PMID:19204079 PMID:19234632 PMID:19236111 PMID:19536304 PMID:19597567 PMID:19643970 PMID:19744731 PMID:19793111 PMID:21081970 PMID:21168818 PMID:22004014 PMID:23028769 PMID:23218701 PMID:23922489 PMID:24033266 PMID:24123366 PMID:24281366 PMID:25091052 PMID:25333069 PMID:25741868 PMID:25978063 PMID:27408750 PMID:27508083 PMID:27535533 PMID:27820421 PMID:28384041 PMID:28492532 PMID:28620713 PMID:29556725 PMID:30311386 PMID:32499604 , PMID:18483560 , PMID:18055790 , PMID:17563717 , PMID:16319821
RGD:7800658 , RGD:7800696 , RGD:7800695 , RGD:7800664
NCBI chr 6:2,308,179...2,316,739
Ensembl chr 6:2,307,808...2,316,722
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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
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Eln
elastin
ISO
RGD
PMID:1526740
RGD:9585735
NCBI chr12:24,978,478...25,021,864
Ensembl chr12:24,978,483...25,021,863
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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 6:99,163,953...99,214,711
Ensembl chr 6:99,164,357...99,214,251
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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 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
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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: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
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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
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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 8:63,067,757...63,092,124
Ensembl chr 8:63,067,300...63,092,009
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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
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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
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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 chr17:77,224,218...77,245,486
Ensembl chr17:77,224,112...77,246,478
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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 8:5,703,206...5,723,593
Ensembl chr 8:5,703,206...5,723,591
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Mmp9
matrix metallopeptidase 9
no_association
ISO
DNA:insertion: :p.Q279R (rs17576) (human)
RGD
PMID:20808730
RGD:8549725
NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
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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
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
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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
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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
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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 chr11:74,717,600...74,793,902
Ensembl chr11:74,720,254...74,793,803
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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
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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
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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
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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
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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
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Tnf
tumor necrosis factor
ISO
DNA:polymorphisms, haplotype:promoter:-857C>T, -863C>A (human)
RGD
PMID:15557444
RGD:7775041
NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
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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
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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
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
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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
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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
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