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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Ahr
aryl hydrocarbon receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22273745
NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568
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Arg1
arginase 1
IEP ISO
mRNA:increased expression:lung (rat) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:15292275 PMID:17365572
RGD:4143368
NCBI chr 1:20,475,878...20,488,422
Ensembl chr 1:20,475,968...20,488,422
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Arpc2
actin related protein 2/3 complex, subunit 2
IEP
mRNA:altered expression:lung (rat)
RGD
PMID:18685790
RGD:4893904
NCBI chr 9:75,820,782...75,851,471
Ensembl chr 9:75,820,770...75,851,471
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C3
complement C3
ISO
DNA:polymorphism (human)
RGD
PMID:12096683
RGD:5129516
NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
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Cav1
caveolin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36053221
NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705
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Ccl2
C-C motif chemokine ligand 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26163174
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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Ccl7
C-C motif chemokine ligand 7
IEP
RGD
PMID:21830856
RGD:6483764
NCBI chr10:67,016,446...67,018,296
Ensembl chr10:67,016,446...67,018,303
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Cd36
CD36 molecule
treatment
IMP
RGD
PMID:24053919
RGD:11041147
NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903
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Chia
chitinase, acidic
IEP
mRNA:increased expression:lung (rat)
RGD
PMID:18685790
RGD:4893904
NCBI chr 2:193,614,374...193,656,532
Ensembl chr 2:193,614,114...193,656,533
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Cpm
carboxypeptidase M
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24986923
NCBI chr 7:53,225,647...53,286,220
Ensembl chr 7:53,225,696...53,286,220
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Csf2
colony stimulating factor 2
IEP
protein:increased expression:serum:
RGD
PMID:21505002
RGD:10450467
NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199
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Ctla4
cytotoxic T-lymphocyte-associated protein 4
ISO
RGD
PMID:16831302
RGD:4891515
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
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Egr1
early growth response 1
IEP
protein:increased expression:lung, epithelial cell, macrophage (rat)
RGD
PMID:15033019
RGD:5131937
NCBI chr18:26,462,967...26,466,766
Ensembl chr18:26,462,981...26,466,766
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Eln
elastin
IEP
protein:increased expression:lung connective tissue:
RGD
PMID:7573374
RGD:9585691
NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928
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Fto
FTO, alpha-ketoglutarate dependent dioxygenase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:37979906
NCBI chr19:15,284,898...15,692,142
Ensembl chr19:15,349,696...15,692,083
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Hmox1
heme oxygenase 1
ISO
protein:increased expression:serum, lung
RGD
PMID:16858012
RGD:4145384
NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
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Hnrnpa3
heterogeneous nuclear ribonucleoprotein A3
IEP
protein:increased expression:lung
RGD
PMID:19534998
RGD:10059658
NCBI chr 3:60,578,574...60,588,755
Ensembl chr 3:60,578,673...60,588,306
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Ift88
intraflagellar transport 88
IEP
protein:decreased expression:lung
RGD
PMID:32042332
RGD:155791682
NCBI chr15:31,573,325...31,666,068
Ensembl chr15:31,573,376...31,672,147
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Il17a
interleukin 17A
ISO
mRNA, protein:increased expression:lung
RGD
PMID:20421647
RGD:4888525
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
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Il1b
interleukin 1 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23640035
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Il1rn
interleukin 1 receptor antagonist
susceptibility treatment
ISO IDA
DNA:SNP (human)
RGD
PMID:11264025 PMID:23842733
RGD:4142816 , RGD:8551847
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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Il2ra
interleukin 2 receptor subunit alpha
ISO
RGD
PMID:21072213
RGD:4891500
NCBI chr17:66,849,974...66,898,665
Ensembl chr17:66,849,974...66,898,697
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Jun
Jun proto-oncogene, AP-1 transcription factor subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27621875
NCBI chr 5:109,894,175...109,897,268
Ensembl chr 5:109,893,145...109,897,656
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Kif3a
kinesin family member 3a
IEP ISO
protein:decreased expression:lung protein:increased expression:respiratory system fluid/secretion:
RGD
PMID:32042332 PMID:32042332
RGD:155791682 , RGD:155791682
NCBI chr10:37,725,930...37,761,183
Ensembl chr10:37,725,970...37,759,191
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Marco
macrophage receptor with collagenous structure
treatment
IMP
RGD
PMID:30391304
RGD:41412200
NCBI chr13:31,616,278...31,648,521
Ensembl chr13:31,616,278...31,648,521
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Mmp13
matrix metallopeptidase 13
IEP
mRNA:increased expression:lung, fibroblast
RGD
PMID:9614183
RGD:10043156
NCBI chr 8:4,497,960...4,508,239
Ensembl chr 8:4,497,960...4,508,239
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Nos2
nitric oxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:15292275 PMID:15205031
RGD:4891445
NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
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Npm1
nucleophosmin 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:37399107
NCBI chr10:17,741,512...17,751,626
Ensembl chr10:17,739,941...17,751,645
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Pdzrn4
PDZ domain containing RING finger 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24986923
NCBI chr 7:123,816,961...123,965,491
Ensembl chr 7:123,816,961...123,965,491
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Prkcb
protein kinase C, beta
IDA
protein:increased activation:alveolar macrophage
RGD
PMID:14680365
RGD:1625527
NCBI chr 1:176,832,173...177,163,539
Ensembl chr 1:176,832,226...177,163,536
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Pten
phosphatase and tensin homolog
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27621875
NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
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RT1-Bb
RT1 class II, locus Bb
ISO
DNA:polymorphism: :HLA-DQB1*0402(human)
RGD
PMID:11776400
RGD:36049758
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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Rtel1
regulator of telomere elongation helicase 1
IEP
mRNA:decreased expression:lung (rat)
RGD
PMID:29230030
RGD:152977761
NCBI chr 3:168,427,247...168,465,349
Ensembl chr 3:168,419,579...168,465,348
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Tert
telomerase reverse transcriptase
IEP
mRNA:increased expression:lung (rat)
RGD
PMID:29230030
RGD:152977761
NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561
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Tnf
tumor necrosis factor
treatment
ISO IEP
DNA:polymorphisms: :
RGD
PMID:11264025 PMID:25199287
RGD:4142816 , RGD:10450591
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Tnfrsf1a
TNF receptor superfamily member 1A
ISO
RGD
PMID:11208652
RGD:5131150
NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
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Tnfrsf1b
TNF receptor superfamily member 1B
ISO
RGD
PMID:11208652
RGD:5131150
NCBI chr 5:157,070,642...157,104,216
Ensembl chr 5:157,070,642...157,104,206
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Sting1
stimulator of interferon response cGAMP interactor 1
severity
ISO
RGD
PMID:31141689
RGD:39128194
NCBI chr18:27,332,119...27,338,371
Ensembl chr18:27,332,119...27,338,335
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