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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Ace
angiotensin I converting enzyme
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14657821
NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
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Nkx2-1
NK2 homeobox 1
ISO
ClinVar Annotator: match by term: Choreoathetosis, hypothyroidism, and neonatal respiratory distress ClinVar Annotator: match by OMIM:610978 DNA:deletion:exon:p.M29Afs*40 (c.84_90del) (human) DNA:deletion:exon:p.R165Gfs*32 (c.493delC) (human) DNA:nonsense mutation:exon:p.S145X (c.609C>A) (human) DNA:missense mutation exon:p.L224R (c.671T>G) (human)
OMIM ClinVar
PMID:11854318 PMID:11854319 PMID:12891678 PMID:15289765 PMID:15955952 PMID:17220277 PMID:18788921 PMID:19176457 PMID:19336474 PMID:24555207 PMID:25326635 PMID:25741868 PMID:28492532 PMID:29538355 , PMID:23911641 , PMID:23379327 , PMID:18788921 , PMID:26839702
RGD:12914768 , RGD:12914769 , RGD:11073166 , RGD:12914770
NCBI chr 6:77,418,096...77,423,383
Ensembl chr 6:77,418,096...77,421,286
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Bax
BCL2 associated X, apoptosis regulator
IEP
RGD
PMID:26431790
RGD:11537057
NCBI chr 1:101,451,801...101,457,207
Ensembl chr 1:101,451,802...101,457,207
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Bid
BH3 interacting domain death agonist
IEP
RGD
PMID:26431790
RGD:11537057
NCBI chr 4:153,439,812...153,465,247
Ensembl chr 4:153,442,218...153,465,203
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Casp3
caspase 3
IEP
RGD
PMID:26431790
RGD:11537057
NCBI chr16:48,845,011...48,863,249
Ensembl chr16:48,845,012...48,863,204
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Casp8
caspase 8
IEP
RGD
PMID:26431790
RGD:11537057
NCBI chr 9:65,614,142...65,662,624
Ensembl chr 9:65,614,142...65,662,106
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Casp9
caspase 9
IEP
RGD
PMID:26431790
RGD:11537057
NCBI chr 5:160,356,211...160,373,774
Ensembl chr 5:160,355,833...160,373,778
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Cat
catalase
IDA
RGD
PMID:19693467
RGD:5130750
NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
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Ccl7
C-C motif chemokine ligand 7
ISO
RGD
PMID:16888287
RGD:5130981
NCBI chr10:69,423,083...69,424,933
Ensembl chr10:69,423,086...69,424,979
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Cd209
CD209 molecule
ISO
RGD
PMID:20050784
RGD:5131185
NCBI chr12:2,406,879...2,413,324
Ensembl chr12:2,406,879...2,413,324
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Cd209c
CD209c molecule
ISO
RGD
PMID:20050784
RGD:5131185
NCBI chr12:2,837,991...2,846,709
Ensembl chr12:2,838,128...2,843,772
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Chi3l1
chitinase 3 like 1
ISO
protein:decreased secretion:lung, secretion (human)
RGD
PMID:20558631
RGD:4892651
NCBI chr13:51,022,844...51,030,797
Ensembl chr13:51,022,681...51,030,802
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Cxcl1
C-X-C motif chemokine ligand 1
IEP
RGD
PMID:19951473
RGD:5134972
NCBI chr14:18,743,678...18,745,457
Ensembl chr14:18,743,685...18,745,457
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Dag1
dystroglycan 1
ISO
DNA:SNP: :p.N494H (human)
RGD
PMID:17196572
RGD:11537474
NCBI chr 8:116,980,501...116,993,182
Ensembl chr 8:116,980,497...116,993,193
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Edn1
endothelin 1
IEP
protein:increased expression:lung (rat)
RGD
PMID:20647310
RGD:4144841
NCBI chr17:22,136,814...22,143,745
Ensembl chr17:22,137,324...22,143,324
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Epas1
endothelial PAS domain protein 1
treatment
IEP
RGD
PMID:23065129
RGD:10395385
NCBI chr 6:10,306,508...10,385,239
Ensembl chr 6:10,306,405...10,387,265
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Flt1
Fms related receptor tyrosine kinase 1
ISO
RGD
PMID:22003089
RGD:10402122
NCBI chr12:9,033,993...9,205,886
Ensembl chr12:9,034,308...9,205,905
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Gstm1
glutathione S-transferase mu 1
susceptibility
ISO
DNA:deletion, haplotype:: (human)
RGD
PMID:24120392
RGD:12792215
NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
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Gstp1
glutathione S-transferase pi 1
susceptibility
ISO
DNA:polymorphism:exon:p.I105V (human)
RGD
PMID:14726935
RGD:4142520
NCBI chr 1:219,291,679...219,294,147
Ensembl chr 1:219,291,679...219,294,147
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Gstt1
glutathione S-transferase theta 1
susceptibility
ISO
DNA:deletion, haplotype:: (human)
RGD
PMID:24120392
RGD:12792215
NCBI chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
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Hif1a
hypoxia inducible factor 1 subunit alpha
treatment
IEP
RGD
PMID:23065129 , PMID:26431790
RGD:10395385 , RGD:11537057
NCBI chr 6:96,810,868...96,856,303
Ensembl chr 6:96,810,907...96,856,052
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Il1b
interleukin 1 beta
ISO
protein:increased expression:lung CTD Direct Evidence: marker/mechanism
CTD
PMID:16813970 , PMID:15539764
RGD:4143172
NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
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Il1rn
interleukin 1 receptor antagonist
susceptibility
ISO
protein:increased expression:lung associated with Premature Birth;DNA:polymorphism::
RGD
PMID:15539764 , PMID:22882323
RGD:4143172 , RGD:12910846
NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
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Mbl2
mannose binding lectin 2
susceptibility
ISO
associated with Premature Birth;DNA:polymorphism:exon:
RGD
PMID:22882323
RGD:12910846
NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
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Mif
macrophage migration inhibitory factor
ISO
associated with Respiratory Distress Syndrome, Newborn; protein:increased expression:lung
RGD
PMID:18097062
RGD:4891007
NCBI chr20:13,715,219...13,732,980
Ensembl chr20:13,732,198...13,732,859
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Mmp9
matrix metallopeptidase 9
ISO
RGD
PMID:19097983
RGD:5129685
NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
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Muc1
mucin 1, cell surface associated
severity
ISO
protein:increased expression:cord plasma
RGD
PMID:18025794
RGD:5131170
NCBI chr 2:188,543,137...188,547,874
Ensembl chr 2:188,543,137...188,547,874
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Postn
periostin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22363622
NCBI chr 2:143,656,820...143,688,087
Ensembl chr 2:143,656,793...143,688,087
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Scgb1a1
secretoglobin family 1A member 1
ISO
RGD
PMID:11435254
RGD:5144211
NCBI chr 1:225,279,698...225,283,246
Ensembl chr 1:225,279,676...225,283,326
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Serpine1
serpin family E member 1
ISO
associated with Premature Birth;protein:increased expression:blood:
RGD
PMID:25140773
RGD:13208551
NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
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Sftpa1
surfactant protein A1
susceptibility
ISO
DNA:snps, haplotypes:multiple (human) DNA:polymorphisms, haplotype: (human)
RGD
PMID:17264398 , PMID:11105614
RGD:4143384 , RGD:4144876
NCBI chr16:18,716,019...18,719,404
Ensembl chr16:18,716,019...18,719,403
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Sftpb
surfactant protein B
susceptibility
ISO
DNA:deletion:intron (human) DNA:polymorphism:intron (human)
RGD
PMID:15102713 , PMID:12424586 , PMID:17264398
RGD:4143405 , RGD:4143418 , RGD:4143384
NCBI chr 4:100,166,855...100,175,941
Ensembl chr 4:100,166,863...100,175,938
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Sftpd
surfactant protein D
ISO
RGD
PMID:17264398
RGD:4143384
NCBI chr16:18,753,535...18,766,100
Ensembl chr16:18,745,458...18,766,174
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Tnf
tumor necrosis factor
severity no_association
ISO
DNA:SNP:promoter:-238A>G (human) DNA:SNP:promoter:-308G>A (human)
RGD
PMID:15286263 , PMID:15286263
RGD:12904049 , RGD:12904049
NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000 Ensembl chr20:5,189,390...5,192,000
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Tp53
tumor protein p53
IEP
RGD
PMID:26431790
RGD:11537057
NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
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Txn1
thioredoxin 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:20812253
NCBI chr 5:75,049,735...75,057,731
Ensembl chr 5:75,049,747...75,057,752
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Vdr
vitamin D receptor
susceptibility
ISO
associated with Premature Birth;DNA:SNPs: :rs2228570,rs731236(human)
RGD
PMID:24796371
RGD:13432055
NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
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Erf
Ets2 repressor factor
ISO
ClinVar Annotator: match by term: Chitayat syndrome
OMIM ClinVar
PMID:8418638 PMID:25741868 PMID:27738187
NCBI chr 1:82,112,449...82,120,902
Ensembl chr 1:82,112,449...82,120,902
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Ighmbp2
immunoglobulin mu DNA binding protein 2
ISO
DNA:mutations:multiple (human) ClinVar Annotator: match by term: Spinal muscular atrophy, distal, autosomal recessive, 1 ClinVar Annotator: match by OMIM:604320
ClinVar OMIM
PMID:234316 PMID:9536098 PMID:11528396 PMID:14506069 PMID:14681881 PMID:15108294 PMID:15248100 PMID:15290238 PMID:15503272 PMID:15599641 PMID:15797190 PMID:16765827 PMID:16964485 PMID:17431882 PMID:17576681 PMID:18802676 PMID:19157874 PMID:19158098 PMID:20031928 PMID:21353777 PMID:21902652 PMID:22157136 PMID:22791546 PMID:23449687 PMID:23566544 PMID:23806086 PMID:23929295 PMID:24022109 PMID:24033266 PMID:24088041 PMID:24388491 PMID:25326635 PMID:25439726 PMID:25454169 PMID:25568292 PMID:25741868 PMID:26136520 PMID:26257172 PMID:26298607 PMID:26392352 PMID:26467025 PMID:26709713 PMID:26922252 PMID:27450922 PMID:28065684 PMID:28202949 PMID:28251916 PMID:28397221 PMID:28492532 PMID:28902413 PMID:29858556 PMID:30598237 PMID:32488064 , PMID:11528396
RGD:737748
NCBI chr 1:218,509,274...218,531,922
Ensembl chr 1:218,508,950...218,532,142
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Serpine1
serpin family E member 1
ISO
RGD
PMID:8981909
RGD:4144850
NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
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Sftpa1
surfactant protein A1
ISO
ClinVar Annotator: match by term: Respiratory distress associated with prematurity
ClinVar
PMID:24033266 PMID:25741868
NCBI chr16:18,716,019...18,719,404
Ensembl chr16:18,716,019...18,719,403
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Sftpc
surfactant protein C
ISO
RGD
PMID:9655740
RGD:4143444
NCBI chr15:52,211,538...52,214,480
Ensembl chr15:52,211,544...52,214,616
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Slc27a4
solute carrier family 27 member 4
ISO
ClinVar Annotator: match by term: Ichthyosis prematurity syndrome ClinVar Annotator: match by OMIM:608649
OMIM ClinVar
PMID:19631310 PMID:25741868
NCBI chr 3:8,363,937...8,376,858
Ensembl chr 3:8,363,937...8,376,858
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Col2a1
collagen type II alpha 1 chain
ISO
ClinVar Annotator: match by term: Kniest dysplasia ClinVar Annotator: match by OMIM:156550 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:4014370 PMID:4214536 PMID:7849719 PMID:7874117 PMID:7981752 PMID:9066888 PMID:9468540 PMID:10406661 PMID:11297324 PMID:12995812 PMID:23188137 PMID:25741868 PMID:28492532
NCBI chr 7:139,454,945...139,484,403
Ensembl chr 7:139,455,242...139,483,997
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Hspg2
heparan sulfate proteoglycan 2
ISO
ClinVar Annotator: match by term: Lethal Kniest-like syndrome
ClinVar
PMID:11279527 PMID:24088041 PMID:24781210 PMID:25504735 PMID:25741868 PMID:25803036 PMID:26467025 PMID:26508570 PMID:26633545 PMID:28242392 PMID:28492532 PMID:29271572 PMID:29901129
NCBI chr 5:155,812,096...155,913,751
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Ldlrad2
low density lipoprotein receptor class A domain containing 2
ISO
ClinVar Annotator: match by term: Lethal Kniest-like syndrome
ClinVar
PMID:25504735 PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr 5:155,914,517...155,922,269
Ensembl chr 5:155,914,735...155,916,893
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Cat
catalase
susceptibility
ISO
DNA:haplotype: :
RGD
PMID:22574884
RGD:8655661
NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
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Epas1
endothelial PAS domain protein 1
ISS
OMIM:267450
MouseDO
NCBI chr 6:10,306,508...10,385,239
Ensembl chr 6:10,306,405...10,387,265
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Hmox1
heme oxygenase 1
ISO
mRNA:increased expression:blood cells
RGD
PMID:18301921
RGD:4145353
NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
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Icam1
intercellular adhesion molecule 1
ISO IEP
protein:increased expression:lung (mouse) associated with Reperfusion Injury; mRNA, protein:increased expression:lung (rat)
RGD
PMID:20888423 , PMID:19837405
RGD:4145440 , RGD:4145493
NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
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Mbl2
mannose binding lectin 2
disease_progression
ISO
RGD
PMID:25879044
RGD:12910849
NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
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Megf10
multiple EGF-like domains 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22101682
NCBI chr18:52,215,652...52,366,212
Ensembl chr18:52,215,682...52,366,238
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Mif
macrophage migration inhibitory factor
ISO
RGD
PMID:18097062
RGD:4891007
NCBI chr20:13,715,219...13,732,980
Ensembl chr20:13,732,198...13,732,859
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Ndst1
N-deacetylase and N-sulfotransferase 1
ISS
OMIM:267450
MouseDO
NCBI chr18:55,951,497...56,014,107
Ensembl chr18:55,955,389...55,992,885
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Npsr1
neuropeptide S receptor 1
ISO
RGD
PMID:16938805
RGD:4891932
NCBI chr 8:25,246,174...25,483,582
Ensembl chr 8:25,246,292...25,482,647
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Sftpa1
surfactant protein A1
susceptibility
ISO IEP
DNA:missense mutations, haplotype:cds:p.L50V, p.R219W (human) protein:increased expression:lung
RGD
PMID:11063734 , PMID:11504697
RGD:4143433 , RGD:4143428
NCBI chr16:18,716,019...18,719,404
Ensembl chr16:18,716,019...18,719,403
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Sftpb
surfactant protein B
susceptibility
ISO IEP
DNA:polymorphism:intron (human) DNA:polymorphism: :p.T131I (human) mRNA, protein:decreased expression:lung
RGD
PMID:12490037 , PMID:7832777 , PMID:11063734 , PMID:11504697 , PMID:12424586 , PMID:18353230
RGD:4143416 , RGD:4143455 , RGD:4143433 , RGD:4143428 , RGD:4143418 , RGD:4143376
NCBI chr 4:100,166,855...100,175,941
Ensembl chr 4:100,166,863...100,175,938
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Sftpc
surfactant protein C
IEP ISO
mRNA, protein:decreased expression:lung protein:altered processing:amniotic fluid, lung
RGD
PMID:11504697 , PMID:7537464
RGD:4143428 , RGD:4144127
NCBI chr15:52,211,538...52,214,480
Ensembl chr15:52,211,544...52,214,616
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Sftpd
surfactant protein D
susceptibility
ISO IEP
DNA:SNP: :p.A160T (human) protein:increased expression:lung
RGD
PMID:17524024 , PMID:11504697
RGD:4143507 , RGD:4143428
NCBI chr16:18,753,535...18,766,100
Ensembl chr16:18,745,458...18,766,174
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Sod1
superoxide dismutase 1
susceptibility
ISO
DNA:snp, haplotype:enhancer:g.*1112T>G (rs17880135) (human)
RGD
PMID:22574884
RGD:8655661
NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
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Tnnt2
troponin T2, cardiac type
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10789933
NCBI chr13:52,662,974...52,680,992
Ensembl chr13:52,662,996...52,680,990
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Vegfa
vascular endothelial growth factor A
ISS
OMIM:267450
MouseDO
NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
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Adipoq
adiponectin, C1Q and collagen domain containing
treatment
ISO
RGD
PMID:19342600
RGD:7394795
NCBI chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
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Amigo2
adhesion molecule with Ig like domain 2
treatment
ISO
RGD
PMID:26553931
RGD:14392781
NCBI chr 7:138,704,124...138,707,221
Ensembl chr 7:138,704,126...138,707,221
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Ccl2
C-C motif chemokine ligand 2
treatment
ISO IDA
mRNA:increased expression:retina (mouse)
RGD
PMID:16710171 , PMID:19038868
RGD:8548878 , RGD:11526145
NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
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Csnk2a1
casein kinase 2 alpha 1
ISO
RGD
PMID:16651637
RGD:11565123
NCBI chr 3:147,713,808...147,760,375
Ensembl chr 3:147,713,821...147,757,862
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Csnk2a2
casein kinase 2 alpha 2
ISO
RGD
PMID:16651637
RGD:11565123
NCBI chr19:9,972,537...10,012,043
Ensembl chr19:9,972,537...10,012,043
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Csnk2b
casein kinase 2 beta
ISO
RGD
PMID:16651637
RGD:11565123
NCBI chr20:5,108,692...5,113,675
Ensembl chr20:5,106,890...5,113,112
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Fas
Fas cell surface death receptor
ISO
mRNA:increased expression:retina
RGD
PMID:17102953
RGD:12903974
NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
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Faslg
Fas ligand
ISO
RGD
PMID:17102953
RGD:12903974
NCBI chr13:79,696,811...79,717,581
Ensembl chr13:79,698,445...79,705,705
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Ghrl
ghrelin and obestatin prepropeptide
IEP
RGD
PMID:21642627
RGD:12904963
NCBI chr 4:145,674,157...145,678,066
Ensembl chr 4:145,674,157...145,678,066
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Ghsr
growth hormone secretagogue receptor
treatment
IMP
RGD
PMID:21642627
RGD:12904963
NCBI chr 2:113,065,953...113,071,265
Ensembl chr 2:113,066,885...113,070,261
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Hif1a
hypoxia inducible factor 1 subunit alpha
treatment
ISO
mRNA:increased expression:retina (mouse)
RGD
PMID:18087198 , PMID:20220049
RGD:8695923 , RGD:9068455
NCBI chr 6:96,810,868...96,856,303
Ensembl chr 6:96,810,907...96,856,052
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Hmgb1
high mobility group box 1
treatment
ISO
RGD
PMID:24371837
RGD:10402057
NCBI chr12:7,082,529...7,090,246
Ensembl chr16:37,500,017...37,502,237
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Igf1
insulin-like growth factor 1
IEP
protein:decreased expression:serum (rat)
RGD
PMID:18344903
RGD:12910457
NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
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Kdr
kinase insert domain receptor
treatment
IEP IMP
RGD
PMID:17349140 , PMID:15951738
RGD:8549715 , RGD:1581593
NCBI chr14:34,727,677...34,787,127
Ensembl chr14:34,727,623...34,787,183
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Mapk8
mitogen-activated protein kinase 8
ISO
RGD
PMID:19433784
RGD:10412674
NCBI chr16:9,620,854...9,709,342
Ensembl chr16:9,625,177...9,709,347
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Mobp
myelin-associated oligodendrocyte basic protein
IEP
mRNA:decreased expression:retina:
RGD
PMID:21350694
RGD:10401135
NCBI chr 8:128,824,420...128,854,492
Ensembl chr 8:128,824,508...128,850,358
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Ndp
norrin cystine knot growth factor NDP
treatment
ISO
RGD
PMID:20053900
RGD:8694208
NCBI chr X:6,791,090...6,815,586
Ensembl chr X:6,791,136...6,815,583 Ensembl chr X:6,791,136...6,815,583
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Pparg
peroxisome proliferator-activated receptor gamma
ISO
protein:decreased expression:retina (mouse)
RGD
PMID:18806296
RGD:2301844
NCBI chr 4:147,274,055...147,399,383
Ensembl chr 4:147,274,107...147,399,380
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Ptafr
platelet-activating factor receptor
treatment
IMP
RGD
PMID:12356842
RGD:10041062
NCBI chr 5:150,746,284...150,775,675
Ensembl chr 5:150,754,021...150,775,672
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Ptger3
prostaglandin E receptor 3
IEP
protein:increased expression:retina (rat)
RGD
PMID:12821538
RGD:9850261
NCBI chr 2:263,895,093...263,979,682
Ensembl chr 2:263,895,241...263,979,698
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Serpine1
serpin family E member 1
treatment severity
ISO IEP
mRNA, protein:increased expression:retina (mouse)
RGD
PMID:19443721 , PMID:11133880 , PMID:19443721
RGD:8547749 , RGD:13208592 , RGD:8547749
NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
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Serpinf1
serpin family F member 1
treatment susceptibility
ISO IEP
human gene in a mouse model mRNA, protein:decreased expression:retina (rat)
RGD
PMID:21281801 , PMID:11916948
RGD:8554878 , RGD:8655544
NCBI chr10:62,241,750...62,254,145
Ensembl chr10:62,241,756...62,254,287
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Sod1
superoxide dismutase 1
ISO
RGD
PMID:16741961
RGD:8655606
NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
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Stat3
signal transducer and activator of transcription 3
ISO
RGD
PMID:16303927
RGD:8694296
NCBI chr10:88,790,401...88,842,263
Ensembl chr10:88,790,408...88,842,233
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Tnf
tumor necrosis factor
ISO
RGD
PMID:15681845 , PMID:19342600
RGD:7394799 , RGD:7394795
NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000 Ensembl chr20:5,189,390...5,192,000
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Vegfa
vascular endothelial growth factor A
IEP
mRNA:increased expression:retina:
RGD
PMID:15303088
RGD:7483624
NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
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Dnah11
dynein, axonemal, heavy chain 11
ISO
ClinVar Annotator: match by term: Periventricular leukomalacia
ClinVar
PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr 6:145,784,893...146,099,212
Ensembl chr 6:145,785,275...146,099,053
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Mbp
myelin basic protein
IEP
protein:decreased expression:brain:
RGD
PMID:23614640
RGD:7327203
NCBI chr18:79,326,738...79,437,310
Ensembl chr18:79,326,738...79,437,310
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Mcoln1
mucolipin TRP cation channel 1
ISO
ClinVar Annotator: match by term: Periventricular leukomalacia
ClinVar
NCBI chr12:2,054,629...2,068,682
Ensembl chr12:2,054,680...2,068,682
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Parp1
poly (ADP-ribose) polymerase 1
ISO
RGD
PMID:21596035
RGD:5683904
NCBI chr13:98,857,255...98,889,444
Ensembl chr13:98,857,177...98,889,716
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Tmco1
transmembrane and coiled-coil domains 1
ISO
ClinVar Annotator: match by term: Periventricular leukomalacia
ClinVar
PMID:25741868
NCBI chr13:85,465,015...85,559,113
Ensembl chr13:85,465,792...85,559,087
G
Tnf
tumor necrosis factor
IDA ISO
RGD
PMID:15765524 , PMID:8652010
RGD:1580604 , RGD:12904655
NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000 Ensembl chr20:5,189,390...5,192,000
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Adrb3
adrenoceptor beta 3
ISO
protein:increased expression:retina (mouse)
RGD
PMID:20739470
RGD:5684355
NCBI chr16:69,003,541...69,006,632
Ensembl chr16:69,003,868...69,006,632
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Agt
angiotensinogen
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15387897
NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
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Angpt2
angiopoietin 2
susceptibility
IDA IEP ISO
protein:increased expression:retina (rat) mRNA:increased expression:retina (mouse)
RGD
PMID:17692314 , PMID:17692314 , PMID:17065527
RGD:2314205 , RGD:2314205 , RGD:2314207
NCBI chr16:75,966,480...76,016,147
Ensembl chr16:75,966,352...76,016,195
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Epo
erythropoietin
IEP
protein:decreased expression:retina:
RGD
PMID:24630601
RGD:11041658
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,increased activity:retina:
RGD
PMID:24630601
RGD:11041658
NCBI chr 8:22,969,737...22,974,468
Ensembl chr 8:22,969,745...22,974,321
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Flt1
Fms related receptor tyrosine kinase 1
ISO
RGD
PMID:21731737
RGD:5684426
NCBI chr12:9,033,993...9,205,886
Ensembl chr12:9,034,308...9,205,905
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Fzd4
frizzled class receptor 4
ISO
ClinVar Annotator: match by term: Retinopathy of prematurity
ClinVar
PMID:15733276 PMID:25741868
NCBI chr 1:153,589,471...153,598,376
Ensembl chr 1:153,589,471...153,598,375
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Hgf
hepatocyte growth factor
ISO
RGD
PMID:10751359
RGD:8548546
NCBI chr 4:15,435,460...15,505,377
Ensembl chr 4:15,433,295...15,505,362
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Icam1
intercellular adhesion molecule 1
IEP
mRNA:increased expression:retina (rat)
RGD
PMID:20368504
RGD:4145427
NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
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Igf1
insulin-like growth factor 1
no_association
ISO IEP
protein:decreased expression:serum: mRNA:decreased expression:retina
RGD
PMID:20085549 , PMID:20214047 , PMID:16500767
RGD:8548825 , RGD:8548867 , RGD:8548852
NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
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Igfbp3
insulin-like growth factor binding protein 3
ISO
associated with Obstetric Labor, Premature; protein:decreased expression:plasma:
RGD
PMID:23202391
RGD:12743584
NCBI chr14:87,457,647...87,465,374
Ensembl chr14:87,457,647...87,465,374
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Ihh
Indian hedgehog signaling molecule
ISO
DNA:SNP
RGD
PMID:18787502
RGD:12910978
NCBI chr 9:82,208,223...82,214,440
Ensembl chr 9:82,208,223...82,214,440
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Il10
interleukin 10
ISO
protein:increased expression:vitreous humor
RGD
PMID:19700197
RGD:7364863
NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
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Il1b
interleukin 1 beta
IDA
RGD
PMID:23113620
RGD:7204128
NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
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Kdr
kinase insert domain receptor
ISO IEP
mRNA:increased expression:retina associated with premature birth;protein:increased expression:plasma:
RGD
PMID:21731737 , PMID:15039215 , PMID:18408080
RGD:5684426 , RGD:8549753 , RGD:8549746
NCBI chr14:34,727,677...34,787,127
Ensembl chr14:34,727,623...34,787,183
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Ndp
norrin cystine knot growth factor NDP
severity
ISO
DNA:missense mutations:exon:p.R121W, p.L108P (human)
RGD
PMID:9152134
RGD:8694210
NCBI chr X:6,791,090...6,815,586
Ensembl chr X:6,791,136...6,815,583 Ensembl chr X:6,791,136...6,815,583
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Nos1
nitric oxide synthase 1
IEP
protein:increased expression:retina
RGD
PMID:23204802
RGD:7257667
NCBI chr12:44,214,949...44,405,530
Ensembl chr12:44,213,943...44,520,341
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Nos2
nitric oxide synthase 2
IEP
protein:increased expression:retina
RGD
PMID:23204802
RGD:7257667
NCBI chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190
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Nos3
nitric oxide synthase 3
severity
ISO
DNA:duplication:intron:IVS4?-?+27 (human)
RGD
PMID:18334945
RGD:7771560
NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
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Prss23
serine protease 23
ISO
ClinVar Annotator: match by term: Retinopathy of prematurity
ClinVar
PMID:15733276 PMID:25741868
NCBI chr 1:153,732,528...153,742,111
Ensembl chr 1:153,732,532...153,752,541
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RT1-CE13
RT1 class I, locus CE13
ISO
DNA:polymorphisms:cds:HLA-B*38 (human)
RGD
PMID:24033735
RGD:7365093
G
RT1-Db1
RT1 class II, locus Db1
susceptibility
ISO
DNA:polymorphism: :HLA-DRB1*09, HLA-DRB1*14(human)
RGD
PMID:24033735
RGD:7365093
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
human protein in a rat model
RGD
PMID:14638747
RGD:8547810
NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
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Serpinf1
serpin family F member 1
IEP
mRNA, protein:increased expression:retina (rat)
RGD
PMID:21738387
RGD:8655555
NCBI chr10:62,241,750...62,254,145
Ensembl chr10:62,241,756...62,254,287
G
Sod1
superoxide dismutase 1
susceptibility
ISO
DNA:snp, haplotype:enhancer:g.*1112T>G (rs17880135) (human)
RGD
PMID:22958044
RGD:8655635
NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
G
Vegfa
vascular endothelial growth factor A
ISO
protein:increased expression:subretinal fluid:
RGD
PMID:10751359
RGD:8548546
NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
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