RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term: leishmaniasis
Accession: DOID:9065
browse the term
Definition: A parasitic protozoa infectious disease that involves infection caused by protozoan parasite of the genus Leishmania, which is transmitted by the bite of sand fly (subfamily Phlebotominae). (DO)
Synonyms: exact_synonym: leishmaniases
related_synonym: post-kala-azar dermal infectious disease by leishmaniasis; post-kala-azar dermal leishmaniasis
primary_id: MESH:D007896
xref: EFO:0005044 ; GARD:6881 ; ICD10CM:B55 ; ICD9CM:085 ; NCI:C34767 ; ORDO:507
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Ager
advanced glycosylation end product-specific receptor
ISO
protein:increased expression:brain
RGD
PMID:25014011
RGD:8695986
NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
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Arg1
arginase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21232540
NCBI chr 1:20,475,878...20,488,422
Ensembl chr 1:20,475,968...20,488,422
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Btk
Bruton tyrosine kinase
susceptibility
ISO
RGD
PMID:28783468
RGD:124715477
NCBI chr X:97,722,796...97,762,315
Ensembl chr X:97,722,802...97,761,853
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C3
complement C3
ISO
RGD
PMID:15378355
RGD:7401274
NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
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Ccr2
C-C motif chemokine receptor 2
ISO
RGD
PMID:10899907
RGD:8661227
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
disease_progression
ISO
associated with HIV Infections;protein:increased expression:blood, T cell
RGD
PMID:10553079 PMID:17457607
RGD:8551832 , RGD:8551841
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
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Crp
C-reactive protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17218153
NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
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Dusp1
dual specificity phosphatase 1
treatment
ISO
RGD
PMID:21471446
RGD:7771536
NCBI chr10:16,680,478...16,683,275
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Dusp6
dual specificity phosphatase 6
treatment
ISO
RGD
PMID:21471446
RGD:7771536
NCBI chr 7:34,092,848...34,097,186
Ensembl chr 7:34,092,943...34,097,185
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Ifng
interferon gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16540374 PMID:17218153 PMID:2145107
RGD:7829781
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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Il10
interleukin 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16540374 PMID:20404924
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Il18
interleukin 18
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16879623 PMID:10768930
RGD:8655909
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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Il2
interleukin 2
ISO
RGD
PMID:6224858
RGD:8693326
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
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Il21
interleukin 21
exacerbates
ISO
protein:increased expression:popliteal lymph node (mouse)
RGD
PMID:22429963
RGD:127285547
NCBI chr 2:120,117,105...120,127,012
Ensembl chr 2:120,119,444...120,126,996
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Il27
interleukin 27
exacerbates
ISO
RGD
PMID:25466588
RGD:126790552
NCBI chr 1:181,173,108...181,178,720
Ensembl chr 1:181,173,372...181,178,582
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Il4
interleukin 4
treatment
ISO
protein:increased expression:serum
RGD
PMID:2145107 PMID:2521244
RGD:7829781 , RGD:7829820
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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Il6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16540374
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Itgb2
integrin subunit beta 2
ameliorates
ISO
RGD
PMID:14502280
RGD:127285813
NCBI chr20:11,061,394...11,097,656
Ensembl chr20:11,061,430...11,097,600
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Mcl1
MCL1 apoptosis regulator, BCL2 family member
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26670606
NCBI chr 2:183,219,137...183,235,676
Ensembl chr 2:183,219,220...183,222,303
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Slc6a4
solute carrier family 6 member 4
ISO
lupoid leishmaniasis;protein:increased expression:skin of body (human)
RGD
PMID:23989888
RGD:36947873
NCBI chr10:61,824,208...61,858,924
Ensembl chr10:61,826,123...61,858,384
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Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16540374
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Tnfrsf18
TNF receptor superfamily member 18
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20139272
NCBI chr 5:166,618,461...166,622,353
Ensembl chr 5:166,618,969...166,622,353
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Tnfsf4
TNF superfamily member 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10637281
NCBI chr13:73,723,329...73,746,809
Ensembl chr13:73,723,329...73,746,788
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Trem1
triggering receptor expressed on myeloid cells 1
severity
ISO
RGD
PMID:24453980
RGD:126925972
NCBI chr 9:12,763,819...12,779,285
Ensembl chr 9:12,763,819...12,779,203
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Vdr
vitamin D receptor
ISO
RGD
PMID:17551101
RGD:8158083
NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
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Cat
catalase
ISO
protein:decreased activity:erythrocyte:
RGD
PMID:9892499
RGD:9479188
NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
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Ccl2
C-C motif chemokine ligand 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20102417
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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Ccr1
C-C motif chemokine receptor 1
ISO
RGD
PMID:12874303
RGD:5688168
NCBI chr 8:123,556,286...123,561,841
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Ccr2
C-C motif chemokine receptor 2
ISO
mRNA:increased expression:foot, lymph node
RGD
PMID:12874303
RGD:5688168
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
no_association
ISO
DNA:frameshift mutation: :p.S185_T195del (rs333) (human)
RGD
PMID:23632983 PMID:17214851
RGD:8549764 , RGD:8549765
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
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Cd163
CD163 molecule
ISO
mRNA, protein:increased expression:skin of body, blood plasma, CD14-positive monocyte (human)
RGD
PMID:32023254
RGD:127345130
NCBI chr 4:157,085,080...157,118,470
Ensembl chr 4:157,085,093...157,117,878
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Cd274
CD274 molecule
ISO
RGD
PMID:16358363
RGD:41410801
NCBI chr 1:227,116,674...227,137,379
Ensembl chr 1:227,116,649...227,134,450
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Col1a1
collagen type I alpha 1 chain
ISO
DNA:SNPs: :rs1061237, rs2586488 (human)
RGD
PMID:25562121
RGD:11041176
NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
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Foxp3
forkhead box P3
ISO
mRNA:increased expression:Peripheral blood mononuclear cell:
RGD
PMID:29205403
RGD:38455981
NCBI chr X:14,908,494...14,924,994
Ensembl chr X:14,908,494...14,923,838
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Ifng
interferon gamma
treatment
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD RGD
PMID:8154019 PMID:9234779 PMID:20102417 PMID:27999013
RGD:40890273
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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Il10
interleukin 10
ISO
CTD Direct Evidence: marker/mechanism mRNA:increased expression:Peripheral blood mononuclear cell:
CTD RGD
PMID:20102417 PMID:29205403
RGD:38455981
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Il13
interleukin 13
treatment
ISO
RGD
PMID:12739821 PMID:18924210
RGD:8549536 , RGD:8549561
NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
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Il17a
interleukin 17A
ISO
mRNA:increased expression:Peripheral blood mononuclear cell:
RGD
PMID:29205403
RGD:38455981
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:20102417
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Il23a
interleukin 23 subunit alpha
ISO
RGD
PMID:29078003
RGD:39457938
NCBI chr 7:721,809...723,923
Ensembl chr 7:721,809...723,923
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Il4
interleukin 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20102417
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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Klrk1
killer cell lectin like receptor K1
treatment
ISO
associated with lymphocytic choriomeningitis
RGD
PMID:26290604
RGD:39128165
NCBI chr 4:163,079,887...163,092,434
Ensembl chr 4:163,081,927...163,092,459
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Lta
lymphotoxin alpha
no_association
ISO
DNA:SNP:intron:252A>G (human)
RGD
PMID:16950634
RGD:8548800
NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859
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Ltb
lymphotoxin beta
ISO
RGD
PMID:17911622
RGD:8548820
NCBI chr20:3,627,536...3,629,381
Ensembl chr20:3,627,537...3,629,381
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Mmp2
matrix metallopeptidase 2
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:21091666 PMID:21091666
RGD:8657030
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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Pdcd1lg2
programmed cell death 1 ligand 2
ISO
RGD
PMID:16358363
RGD:41410801
NCBI chr 1:227,158,941...227,223,938
Ensembl chr 1:227,158,941...227,223,938
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Pik3cd
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta
treatment
ISO
RGD
PMID:27999013
RGD:40890273
NCBI chr 5:160,094,952...160,142,962
Ensembl chr 5:160,094,952...160,120,930
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Slc11a1
solute carrier family 11 member 1
ISO
DNA:insertion/deletion (human)
RGD
PMID:20089160
RGD:5684930
NCBI chr 9:75,957,193...75,968,115
Ensembl chr 9:75,957,316...75,968,101
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Sod1
superoxide dismutase 1
ISO
protein:increased activity:erythrocyte:
RGD
PMID:9892499
RGD:9479188
NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
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Stat4
signal transducer and activator of transcription 4
ISO
RGD
PMID:10458767
RGD:8661703
NCBI chr 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540
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Tlr2
toll-like receptor 2
ISO
protein:decreased expression:skin:
RGD
PMID:20493664
RGD:7794748
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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Tlr4
toll-like receptor 4
ISO
protein:decreased expression:skin:
RGD
PMID:20493664
RGD:7794748
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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Tlr9
toll-like receptor 9
ISO
protein:decreased expression:skin:
RGD
PMID:20493664
RGD:7794748
NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
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Tnf
tumor necrosis factor
no_association
ISO
DNA:SNP:promoter:-308G>A (rs1800629) (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:20102417 PMID:16950634
RGD:8548800
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Ifng
interferon gamma
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:7854095
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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Lta
lymphotoxin alpha
ISO
DNA:polymorphism:intron
RGD
PMID:7595196
RGD:8548799
NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859
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Tnf
tumor necrosis factor
ISO
DNA:SNP:promoter:-308G>A (human)
RGD
PMID:7595196
RGD:8548799
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Aicda
activation-induced cytidine deaminase
ISO
mRNA:altered expression:Bcell,CD4Tcell
RGD
PMID:31001826
RGD:32716386
NCBI chr 4:155,774,132...155,783,972
Ensembl chr 4:155,774,132...155,783,972
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Ccl4
C-C motif chemokine ligand 4
ISO
protein:increased expression:serum
RGD
PMID:21991751
RGD:5683905
NCBI chr10:68,466,394...68,468,229
Ensembl chr10:68,452,052...68,468,231
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Ccr2
C-C motif chemokine receptor 2
ISO
associated with Malnutrition;mRNA:increased expression:lymph node,spleen:
RGD
PMID:24818662
RGD:8661728
NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
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Ccr3
C-C motif chemokine receptor 3
ISO
protein:increased expression:blood, T cell
RGD
PMID:15379987
RGD:6893393
NCBI chr 8:123,586,100...123,634,178
Ensembl chr 8:123,616,236...123,634,990
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Ccr5
C-C motif chemokine receptor 5
treatment
ISO
RGD
PMID:24617012
RGD:14401738
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
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Cd163
CD163 molecule
exacerbates
ISO
protein:increased expression:blood serum (human)
RGD
PMID:28355218
RGD:127345133
NCBI chr 4:157,085,080...157,118,470
Ensembl chr 4:157,085,093...157,117,878
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Cd40
CD40 molecule
treatment
ISO
RGD
PMID:14573667
RGD:8547750
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
ISO
RGD
PMID:14573667
RGD:8547750
NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306
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Crp
C-reactive protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10467834
NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
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Csf2
colony stimulating factor 2
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:17404324 PMID:8035028
RGD:10449527
NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199
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Cxcl10
C-X-C motif chemokine ligand 10
ISO
mRNA:increased expression:liver
RGD
PMID:16239557
RGD:27095947
NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
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Hmox1
heme oxygenase 1
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:22461696 PMID:23729024
RGD:42724459
NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
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Ifng
interferon gamma
treatment
ISO
CTD Direct Evidence: therapeutic
CTD RGD
PMID:1901333 PMID:7854095 PMID:3104456 PMID:27999013
RGD:8158041 , RGD:40890273
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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Il10
interleukin 10
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:15716043 PMID:17404324 PMID:22461696 PMID:29745990
RGD:14975172
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Il10ra
interleukin 10 receptor subunit alpha
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:15716043
NCBI chr 8:45,563,009...45,578,041
Ensembl chr 8:45,563,137...45,578,061
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Il18
interleukin 18
susceptibility
ISO
RGD
PMID:16879623
RGD:8655922
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
CTD Direct Evidence: marker/mechanism
CTD
PMID:17404324
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Il27
interleukin 27
ISO
mRNA, protein:increased expression:spleen, liver (mouse)
RGD
PMID:27245409
RGD:126790520
NCBI chr 1:181,173,108...181,178,720
Ensembl chr 1:181,173,372...181,178,582
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Il2rb
interleukin 2 receptor subunit beta
susceptibility
ISO
DNA:polymorphisms:exon:8777, 8838(human)
RGD
PMID:17108990
RGD:42724466
NCBI chr 7:110,033,341...110,048,054
Ensembl chr 7:110,033,341...110,048,054
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Il6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7554475 PMID:17404324 PMID:22461696
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Irf5
interferon regulatory factor 5
ISO
protein:increased expression:CD4 T cell, nucleus
RGD
PMID:32038622 PMID:30067973
RGD:40924560 , RGD:40924629
NCBI chr 4:58,127,577...58,140,665
Ensembl chr 4:58,127,640...58,139,267
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Lta
lymphotoxin alpha
severity
ISO
DNA:polymorphisms
RGD
PMID:12438370 PMID:15579454
RGD:8548784 , RGD:8548789
NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859
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Ltb
lymphotoxin beta
ISO
RGD
PMID:12115620
RGD:8548822
NCBI chr20:3,627,536...3,629,381
Ensembl chr20:3,627,537...3,629,381
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Mbl2
mannose binding lectin 2
disease_progression susceptibility
ISO
protein:increased expression:serum: DNA:SNPs,haplotype:promoter,exon: DNA:polymorphism:promoter:
RGD
PMID:17357060 PMID:26297290 PMID:26297290 PMID:22995279 PMID:17357060
RGD:8693721 , RGD:11522692 , RGD:11522692 , RGD:8693726 , RGD:8693721
NCBI chr 1:228,016,439...228,024,736
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Mir155
microRNA 155
ISO
RGD
PMID:31182615
RGD:21081525
NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
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Mir21
microRNA 21
treatment
ISO
RGD
PMID:31608064
RGD:40925951
NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
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Nfe2l2
NFE2 like bZIP transcription factor 2
treatment
ISO
RGD
PMID:23729024
RGD:42724459
NCBI chr 3:60,594,239...60,621,712
Ensembl chr 3:60,594,242...60,621,737
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Pik3cd
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta
treatment
ISO
RGD
PMID:27999013
RGD:40890273
NCBI chr 5:160,094,952...160,142,962
Ensembl chr 5:160,094,952...160,120,930
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RT1-Ba
RT1 class II, locus Ba
susceptibility
ISO
CTD Direct Evidence: marker/mechanism DNA:SNP:enhancer: (rs9271858) (human)
CTD RGD
PMID:23291585 PMID:23291585
RGD:127285406
NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
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RT1-Db1
RT1 class II, locus Db1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23291585
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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Slc11a1
solute carrier family 11 member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16597321 PMID:17067929
RGD:5684944
NCBI chr 9:75,957,193...75,968,115
Ensembl chr 9:75,957,316...75,968,101
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Stat4
signal transducer and activator of transcription 4
ISO
RGD
PMID:24242758
RGD:8661696
NCBI chr 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540
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Tlr2
toll-like receptor 2
disease_progression
ISO
RGD
PMID:23589575
RGD:15090808
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
G
Tnf
tumor necrosis factor
severity
ISO
DNA:polymorphisms CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:1901333 PMID:22461696 PMID:12438370 PMID:15579454
RGD:8548784 , RGD:8548789
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all