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 disease caused by any of a number of species of protozoa in the genus LEISHMANIA. There are four major clinical types of this infection: cutaneous (Old and New World) (LEISHMANIASIS, CUTANEOUS), diffuse cutaneous (LEISHMANIASIS, DIFFUSE CUTANEOUS), mucocutaneous (LEISHMANIASIS, MUCOCUTANEOUS), and visceral (LEISHMANIASIS, VISCERAL).
Synonyms: exact_synonym: Leishmaniases
related_synonym: post-kala-azar dermal infectious disease by leishmaniasis; post-kala-azar dermal leishmaniasis
primary_id: MESH:D007896
xref: GARD:6881 ; ICD10CM:B55 ; ICD9CM:085 ; NCI:C34767
For additional species annotation, visit the
Alliance of Genome Resources .
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Ager
advanced glycosylation end product-specific receptor
ISO
protein:increased expression:brain
RGD
PMID:25014011
RGD:8695986
NCBI chr20:4,363,152...4,366,079
Ensembl chr20:4,363,152...4,366,079
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Arg1
arginase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21232540
NCBI chr 1:21,525,421...21,537,872
Ensembl chr 1:21,525,421...21,537,863
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C3
complement C3
ISO
RGD
PMID:15378355
RGD:7401274
NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
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Ccr2
C-C motif chemokine receptor 2
ISO
RGD
PMID:10899907
RGD:8661227
G
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 8:133,192,398...133,215,599
Ensembl chr 8:133,197,032...133,215,614
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Crp
C-reactive protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17218153
NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
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Dusp1
dual specificity phosphatase 1
treatment
ISO
RGD
PMID:21471446
RGD:7771536
NCBI chr10:16,970,642...16,973,425
Ensembl chr10:16,970,626...16,973,418
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Dusp6
dual specificity phosphatase 6
treatment
ISO
RGD
PMID:21471446
RGD:7771536
NCBI chr 7:41,475,163...41,479,393
Ensembl chr 7:41,475,163...41,479,392
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Ifng
interferon gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16540374 PMID:17218153 , PMID:2145107
RGD:7829781
NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
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Il10
interleukin 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16540374 PMID:20404924
NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
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Il18
interleukin 18
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16879623 , PMID:10768930
RGD:8655909
NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
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Il2
interleukin 2
ISO
RGD
PMID:6224858
RGD:8693326
NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
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Il4
interleukin 4
treatment
ISO
protein:increased expression:serum
RGD
PMID:2145107 , PMID:2521244
RGD:7829781 , RGD:7829820
NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
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Il6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16540374
NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
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Mcl1
MCL1 apoptosis regulator, BCL2 family member
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26670606
NCBI chr 2:197,786,212...197,788,992
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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 chr10:63,153,656...63,188,377
Ensembl chr10:63,153,651...63,176,463
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Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16540374
NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
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Tnfrsf18
TNF receptor superfamily member 18
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20139272
NCBI chr 5:173,459,371...173,463,980
Ensembl chr 5:173,460,354...173,463,140
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Tnfsf4
TNF superfamily member 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10637281
NCBI chr13:79,269,973...79,293,775
Ensembl chr13:79,269,973...79,293,778
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Vdr
vitamin D receptor
ISO
RGD
PMID:17551101
RGD:8158083
NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
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Cat
catalase
ISO
protein:decreased activity:erythrocyte:
RGD
PMID:9892499
RGD:9479188
NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
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Ccl2
C-C motif chemokine ligand 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20102417
NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
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Ccr1
C-C motif chemokine receptor 1
ISO
RGD
PMID:12874303
RGD:5688168
NCBI chr 8:132,996,646...133,002,201
Ensembl chr 8:132,996,649...133,002,201
G
Ccr2
C-C motif chemokine receptor 2
ISO
mRNA:increased expression:foot, lymph node
RGD
PMID:12874303
RGD:5688168
G
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 8:133,192,398...133,215,599
Ensembl chr 8:133,197,032...133,215,614
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Col1a1
collagen type I alpha 1 chain
ISO
DNA:SNPs: :rs1061237, rs2586488 (human)
RGD
PMID:25562121
RGD:11041176
NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
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Foxp3
forkhead box P3
ISO
mRNA:increased expression:Peripheral blood mononuclear cell:
RGD
PMID:29205403
RGD:38455981
NCBI chr X:15,753,175...15,768,648
Ensembl chr X:15,753,175...15,768,522
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Ifng
interferon gamma
treatment
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
PMID:8154019 PMID:9234779 PMID:20102417 , PMID:27999013
RGD:40890273
NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
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Il10
interleukin 10
ISO
CTD Direct Evidence: marker/mechanism mRNA:increased expression:Peripheral blood mononuclear cell:
CTD
PMID:20102417 , PMID:29205403
RGD:38455981
NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
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Il13
interleukin 13
treatment
ISO
RGD
PMID:12739821 , PMID:18924210
RGD:8549536 , RGD:8549561
NCBI chr10:38,982,909...38,985,466
Ensembl chr10:38,982,909...38,985,466
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Il17a
interleukin 17A
ISO
mRNA:increased expression:Peripheral blood mononuclear cell:
RGD
PMID:29205403
RGD:38455981
NCBI chr 9:26,841,299...26,844,786
Ensembl chr 9:26,841,299...26,844,786
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Il1b
interleukin 1 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20102417
NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
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Il23a
interleukin 23 subunit alpha
ISO
RGD
PMID:29078003
RGD:39457938
NCBI chr 7:2,710,609...2,712,723
Ensembl chr 7:2,710,609...2,712,723
G
Il4
interleukin 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20102417
NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
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Klrk1
killer cell lectin like receptor K1
treatment
ISO
associated with lymphocytic choriomeningitis
RGD
PMID:26290604
RGD:39128165
NCBI chr 4:163,392,652...163,403,735
Ensembl chr 4:163,393,217...163,403,653
G
LOC103694381
lymphotoxin-beta
ISO
RGD
PMID:17911622
RGD:8548820
NCBI chr20:4,861,343...4,863,513
Ensembl chr20:4,861,335...4,863,198
G
Lta
lymphotoxin alpha
no_association
ISO
DNA:SNP:intron:252A>G (human)
RGD
PMID:16950634
RGD:8548800
NCBI chr20:4,851,889...4,854,677
Ensembl chr20:4,852,496...4,854,677
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Ltb
lymphotoxin beta
ISO
RGD
PMID:17911622
RGD:8548820
NCBI chr20:5,184,631...5,186,476
Ensembl chr20:5,184,515...5,186,503
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Mmp2
matrix metallopeptidase 2
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21091666 , PMID:21091666
RGD:8657030
NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
G
Pik3cd
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta
treatment
ISO
RGD
PMID:27999013
RGD:40890273
NCBI chr 5:166,602,053...166,628,028
Ensembl chr 5:166,602,053...166,628,028
G
Slc11a1
solute carrier family 11 member 1
ISO
DNA:insertion/deletion (human)
RGD
PMID:20089160
RGD:5684930
NCBI chr 9:81,655,590...81,666,697
Ensembl chr 9:81,655,629...81,666,706
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Sod1
superoxide dismutase 1
ISO
protein:increased activity:erythrocyte:
RGD
PMID:9892499
RGD:9479188
NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
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Stat4
signal transducer and activator of transcription 4
ISO
RGD
PMID:10458767
RGD:8661703
NCBI chr 9:54,340,649...54,457,753
Ensembl chr 9:54,287,541...54,484,533
G
Tlr2
toll-like receptor 2
ISO
protein:decreased expression:skin:
RGD
PMID:20493664
RGD:7794748
NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
G
Tlr4
toll-like receptor 4
ISO
protein:decreased expression:skin:
RGD
PMID:20493664
RGD:7794748
NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
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Tlr9
toll-like receptor 9
ISO
protein:decreased expression:skin:
RGD
PMID:20493664
RGD:7794748
NCBI chr 8:114,916,122...114,920,171
Ensembl chr 8:114,916,122...114,920,171
G
Tnf
tumor necrosis factor
no_association
ISO
DNA:SNP:promoter:-308G>A (rs1800629) (human) CTD Direct Evidence: marker/mechanism
CTD
PMID:20102417 , PMID:16950634
RGD:8548800
NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
G
Ifng
interferon gamma
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:7854095
NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
G
Lta
lymphotoxin alpha
ISO
DNA:polymorphism:intron
RGD
PMID:7595196
RGD:8548799
NCBI chr20:4,851,889...4,854,677
Ensembl chr20:4,852,496...4,854,677
G
Tnf
tumor necrosis factor
ISO
DNA:SNP:promoter:-308G>A (human)
RGD
PMID:7595196
RGD:8548799
NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
G
Aicda
activation-induced cytidine deaminase
ISO
mRNA:altered expression:Bcell,CD4Tcell
RGD
PMID:31001826
RGD:32716386
NCBI chr 4:155,359,909...155,371,104
Ensembl chr 4:155,359,921...155,369,671
G
Ccl4
C-C motif chemokine ligand 4
ISO
protein:increased expression:serum
RGD
PMID:21991751
RGD:5683905
NCBI chr10:70,870,926...70,886,357
Ensembl chr10:70,884,531...70,886,355
G
Ccr2
C-C motif chemokine receptor 2
ISO
associated with Malnutrition;mRNA:increased expression:lymph node,spleen:
RGD
PMID:24818662
RGD:8661728
G
Ccr3
C-C motif chemokine receptor 3
ISO
protein:increased expression:blood, T cell
RGD
PMID:15379987
RGD:6893393
NCBI chr 8:133,026,539...133,040,999
Ensembl chr 8:133,029,625...133,040,997
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Ccr5
C-C motif chemokine receptor 5
treatment
ISO
RGD
PMID:24617012
RGD:14401738
NCBI chr 8:133,192,398...133,215,599
Ensembl chr 8:133,197,032...133,215,614
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Cd40
CD40 molecule
treatment
ISO
RGD
PMID:14573667
RGD:8547750
NCBI chr 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704
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Cd40lg
CD40 ligand
ISO
RGD
PMID:14573667
RGD:8547750
NCBI chr X:159,703,703...159,714,886
Ensembl chr X:159,703,578...159,716,562
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Crp
C-reactive protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10467834
NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
G
Csf2
colony stimulating factor 2
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17404324 , PMID:8035028
RGD:10449527
NCBI chr10:39,602,089...39,604,070
Ensembl chr10:39,602,089...39,604,070
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Cxcl10
C-X-C motif chemokine ligand 10
ISO
mRNA:increased expression:liver
RGD
PMID:16239557
RGD:27095947
NCBI chr14:17,210,733...17,212,930
Ensembl chr14:17,210,733...17,212,930
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Hmox1
heme oxygenase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22461696
NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
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Ifng
interferon gamma
treatment
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:1901333 PMID:7854095 , PMID:3104456 , PMID:27999013
RGD:8158041 , RGD:40890273
NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
G
Il10
interleukin 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15716043 PMID:17404324 PMID:22461696 , PMID:29745990
RGD:14975172
NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
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Il10ra
interleukin 10 receptor subunit alpha
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:15716043
NCBI chr 8:49,558,062...49,573,891
Ensembl chr 8:49,560,035...49,573,742
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Il18
interleukin 18
susceptibility
ISO
RGD
PMID:16879623
RGD:8655922
NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
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Il1b
interleukin 1 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17404324
NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
G
Il6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7554475 PMID:17404324 PMID:22461696
NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
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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 4:56,804,477...56,816,271
Ensembl chr 4:56,805,132...56,820,543
G
LOC103694381
lymphotoxin-beta
ISO
RGD
PMID:12115620
RGD:8548822
NCBI chr20:4,861,343...4,863,513
Ensembl chr20:4,861,335...4,863,198
G
Lta
lymphotoxin alpha
severity
ISO
DNA:polymorphisms
RGD
PMID:12438370 , PMID:15579454
RGD:8548784 , RGD:8548789
NCBI chr20:4,851,889...4,854,677
Ensembl chr20:4,852,496...4,854,677
G
Ltb
lymphotoxin beta
ISO
RGD
PMID:12115620
RGD:8548822
NCBI chr20:5,184,631...5,186,476
Ensembl chr20:5,184,515...5,186,503
G
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 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
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Mir155
microRNA 155
ISO
RGD
PMID:31182615
RGD:21081525
NCBI chr11:24,176,603...24,176,667
Ensembl chr11:24,176,603...24,176,667
G
Pik3cd
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta
treatment
ISO
RGD
PMID:27999013
RGD:40890273
NCBI chr 5:166,602,053...166,628,028
Ensembl chr 5:166,602,053...166,628,028
G
RT1-Ba
RT1 class II, locus Ba
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23291585
NCBI chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721
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RT1-Db1
RT1 class II, locus Db1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23291585
NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
G
Slc11a1
solute carrier family 11 member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16597321 , PMID:17067929
RGD:5684944
NCBI chr 9:81,655,590...81,666,697
Ensembl chr 9:81,655,629...81,666,706
G
Stat4
signal transducer and activator of transcription 4
ISO
RGD
PMID:24242758
RGD:8661696
NCBI chr 9:54,340,649...54,457,753
Ensembl chr 9:54,287,541...54,484,533
G
Tlr2
toll-like receptor 2
disease_progression
ISO
RGD
PMID:23589575
RGD:15090808
NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
G
Tnf
tumor necrosis factor
severity
ISO
DNA:polymorphisms CTD Direct Evidence: marker/mechanism
CTD
PMID:1901333 PMID:22461696 , PMID:12438370 , PMID:15579454
RGD:8548784 , RGD:8548789
NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
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