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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Sting1
stimulator of interferon response cGAMP interactor 1
disease_progression
ISO
associated with herpes simplex
RGD
PMID:27511736
RGD:39128217
NCBI chr18:27,332,119...27,338,371
Ensembl chr18:27,332,119...27,338,335
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Adipoq
adiponectin, C1Q and collagen domain containing
ISO
protein:decreased expression:plasma
RGD
PMID:16982510
RGD:5686751
NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
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Ager
advanced glycosylation end product-specific receptor
severity
ISO
RGD
PMID:22337222
RGD:8695960
NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
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Blk
BLK proto-oncogene, Src family tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22446961
NCBI chr15:37,626,746...37,665,053
Ensembl chr15:37,627,039...37,665,031
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Btnl2
butyrophilin-like 2
susceptibility
ISO
DNA:SNP: :rs 1555115(human)
RGD
PMID:19882345
RGD:9685030
NCBI chr20:4,490,169...4,504,002
Ensembl chr20:4,489,517...4,503,341
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Ccr2
C-C motif chemokine receptor 2
susceptibility
ISO
DNA:polymorphism,haplotype:cds:p.V64I(human)
RGD
PMID:17672867
RGD:8551811
NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
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Ccr5
C-C motif chemokine receptor 5
susceptibility treatment
ISO
DNA:frameshift mutation: :p.S185_T195del (rs333) (human) DNA:frameshift mutation, haplotypes: :p.S185_T195del (rs333) (human) DNA:polymorphisms, haplotype:multiple
RGD
PMID:17672867 PMID:15962231 PMID:20628649
RGD:8551811 , RGD:8551815 , RGD:8551812
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
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Cd40
CD40 molecule
susceptibility
ISO
DNA:SNP:intron:c.51+1066C>T, (rs1535045) (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:22446961 PMID:22446962 PMID:22645426
RGD:8547776
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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Cd40lg
CD40 ligand
treatment
ISO
RGD
PMID:12563087
RGD:11352236
NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306
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Clu
clusterin
treatment
ISO
RGD
PMID:23956692
RGD:8975365
NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315
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Crp
C-reactive protein
susceptibility
ISO
DNA:SNP: :1444 C-->T(human)
RGD
PMID:18710885
RGD:9495921
NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
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Eln
elastin
ISO
RGD
PMID:21356372
RGD:9585741
NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928
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Fcgr2a
Fc gamma receptor 2A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22081228 PMID:22446962
NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967
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Flt1
Fms related receptor tyrosine kinase 1
ISO
RGD
PMID:11839635
RGD:1582494
NCBI chr12:7,296,899...7,468,626
Ensembl chr12:7,297,292...7,468,626
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Hmgb1
high mobility group box 1
ISO
protein:increased expression:serum
RGD
PMID:18720262
RGD:8695977
NCBI chr12:5,972,950...5,979,658
Ensembl chr12:5,901,586...5,978,565 Ensembl chr16:5,901,586...5,978,565
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Hmox1
heme oxygenase 1
no_association
ISO
RGD
PMID:14521259
RGD:1598409
NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
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Hp
haptoglobin
ISO
RGD
PMID:20957478
RGD:5147383
NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
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Hspa1a
heat shock protein family A (Hsp70) member 1A
ISO
DNA:polymorphism:5' utr:190G>C (rs1043618) (human)
RGD
PMID:23870089
RGD:8662464
NCBI chr20:3,870,765...3,873,221
Ensembl chr20:3,856,006...3,873,227
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Hspa1l
heat shock protein family A (Hsp70) member 1 like
ISO
DNA:missense mutation, haplotype:cds:2437T>C (p.M493T) (rs2227956) (human)
RGD
PMID:23870089
RGD:8662464
NCBI chr20:3,848,843...3,855,571
Ensembl chr20:3,848,843...3,855,571
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Il13
interleukin 13
ISO
RGD
PMID:21958311
RGD:5684363
NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
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Il18
interleukin 18
susceptibility disease_progression
ISO
DNA:SNPs, haplotype:promoter:-137G>C, -607C>A, -656G>T (rs187238, rs1946519, rs1946518) (human) DNA:silent mutation, haplotypes:cds:c.105A>C (rs549908) (human)
RGD
PMID:18484687 PMID:15345916 PMID:19288449
RGD:8655874 , RGD:8655924 , RGD:8655898
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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Il1b
interleukin 1 beta
ISO
RGD
PMID:22361326 PMID:8777922
RGD:6482661 , RGD:7401221
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Il4
interleukin 4
treatment
ISO
RGD
PMID:22367425
RGD:7829825
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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Itpkc
inositol-trisphosphate 3-kinase C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18084290
NCBI chr 1:82,500,957...82,522,533
Ensembl chr 1:82,500,957...82,522,779
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Mbl1
mannose binding lectin 1
ISO
RGD
PMID:24721319
RGD:8693744
NCBI chr16:17,029,146...17,035,187
Ensembl chr16:17,029,118...17,035,174
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Mbl2
mannose binding lectin 2
susceptibility
ISO
DNA:polymorphism:cds:
RGD
PMID:24721319 PMID:15144709
RGD:8693744 , RGD:8693748
NCBI chr 1:228,016,439...228,024,736
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Mmp9
matrix metallopeptidase 9
ISO
protein:increased expression:blood
RGD
PMID:12626459 PMID:18311803
RGD:1580170 , RGD:8547899
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Nppb
natriuretic peptide B
ISO
protein:increased expression:plasma
RGD
PMID:21410593
RGD:5685654
NCBI chr 5:158,416,813...158,418,175
Ensembl chr 5:158,416,866...158,418,168
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Selp
selectin P
ISO
RGD
PMID:20079717
RGD:6478695
NCBI chr13:76,476,229...76,511,846
Ensembl chr13:76,476,295...76,511,845
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Timp1
TIMP metallopeptidase inhibitor 1
ISO
protein:increased expression:blood
RGD
PMID:12626459
RGD:1580170
NCBI chr X:1,212,969...1,217,714
Ensembl chr X:1,212,972...1,217,664
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Tlr4
toll-like receptor 4
ISO
mRNA:increased expression:monocyte:
RGD
PMID:18353240
RGD:7777156
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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Tnf
tumor necrosis factor
susceptibility treatment
ISO
DNA:SNP: :-308G>A (human)
RGD
PMID:14703611 PMID:18710885 PMID:8777922 PMID:14744383
RGD:1580318 , RGD:9495921 , RGD:7401221 , RGD:7401183
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Vegfa
vascular endothelial growth factor A
ISO
RGD
PMID:15470196
RGD:1580572
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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