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: Infectious Bone Diseases
Accession: DOID:9007047
browse the term
Definition: Bone diseases caused by pathogenic microorganisms.
Synonyms: exact_synonym: Infectious Bone Disease
primary_id: MESH:D001850
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ACE
angiotensin I converting enzyme
susceptibility
IAGP
DNA:deletion:intron:IVS16+1464-1751del (human)
RGD
PMID:22876137
RGD:7829800
NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380
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ADIPOQ
adiponectin, C1Q and collagen domain containing
IEP
protein:increased expression:serum
RGD
PMID:21122270
RGD:5686891
NCBI chr 3:186,842,710...186,858,463
Ensembl chr 3:186,842,704...186,858,463
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ANO6
anoctamin 6
severity
IAGP EXP
DNA:SNP: :rs17095830(human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:22138694 PMID:23308121
RGD:9684849
NCBI chr12:45,216,095...45,440,404
Ensembl chr12:45,215,987...45,482,280
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ANTXR2
ANTXR cell adhesion molecule 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:20062062 PMID:21743469
NCBI chr 4:79,901,146...80,073,472
Ensembl chr 4:79,901,146...80,125,454
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ASPN
asporin
susceptibility
IAGP
DNA:repeats:exon:
RGD
PMID:20144272
RGD:9684964
NCBI chr 9:92,456,205...92,482,506
Ensembl chr 9:92,456,205...92,482,506
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CARD9
caspase recruitment domain family member 9
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21743469
NCBI chr 9:136,363,956...136,373,669
Ensembl chr 9:136,363,956...136,373,681
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CRP
C-reactive protein
disease_progression
IEP
protein:increased expression:serum:
RGD
PMID:22422197 PMID:6605119
RGD:6482308 , RGD:9491788
NCBI chr 1:159,712,289...159,714,589
Ensembl chr 1:159,712,289...159,714,589
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CYP1A1
cytochrome P450 family 1 subfamily A member 1
IAGP
DNA:polymorphism: :4887C>A (human)
RGD
PMID:12880680
RGD:1581252
NCBI chr15:74,719,542...74,725,528
Ensembl chr15:74,719,542...74,725,536
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ERAP1
endoplasmic reticulum aminopeptidase 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:17952073 PMID:20062062 PMID:21743469 PMID:23291587
NCBI chr 5:96,760,813...96,935,854
Ensembl chr 5:96,760,810...96,808,100
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ERAP2
endoplasmic reticulum aminopeptidase 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:33550689
NCBI chr 5:96,875,939...96,919,716
Ensembl chr 5:96,875,986...96,919,703
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FCGR3A
Fc gamma receptor IIIa
severity
IEP
protein:decreased expression:polymorphonuclear leucocyte
RGD
PMID:8453794
RGD:5508388
NCBI chr 1:161,541,759...161,550,737
Ensembl chr 1:161,541,759...161,550,968
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HLA-B
major histocompatibility complex, class I, B
susceptibility no_association
IAGP EXP
DNA:polymorphisms:cds:HLA-B27, HLA-B60 (human, Caucasian) CTD Direct Evidence: marker/mechanism DNA:polymorphism:cds:HLA-B2705 (human)
CTD RGD
PMID:8053961 PMID:21743469 PMID:22138694 PMID:8733445 PMID:21927904
RGD:7364914 , RGD:10755579
NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067
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HLA-DQA1
major histocompatibility complex, class II, DQ alpha 1
severity
IAGP
DNA:polymorphism:cds:HLA-DQA1*0401 (human)
RGD
PMID:19565552
RGD:5147611
NCBI chr 6:32,637,406...32,655,272
Ensembl chr 6:32,628,179...32,647,062
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HLA-DQB1
major histocompatibility complex, class II, DQ beta 1
severity
IAGP
DNA:polymorphism:cds:HLA-DQB1*0603 (human)
RGD
PMID:19565552
RGD:5147611
NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383
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HLA-DRB1
major histocompatibility complex, class II, DR beta 1
severity
IAGP
DNA:polymorphisms:cds:HLA-DRB1*0801, HLA-DRB1*0804 (human)
RGD
PMID:19565552
RGD:5147611
NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848
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IGFBP3
insulin like growth factor binding protein 3
IEP
protein:decreased expression:serum
RGD
PMID:9851264
RGD:10402573
NCBI chr 7:45,912,245...45,921,272
Ensembl chr 7:45,912,245...45,921,874
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IL12B
interleukin 12B
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21743469
NCBI chr 5:159,314,780...159,330,487
Ensembl chr 5:159,314,780...159,330,863
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IL17A
interleukin 17A
treatment
IMP
RGD
PMID:24035250
RGD:9068448
NCBI chr 6:52,186,375...52,190,638
Ensembl chr 6:52,186,375...52,190,638
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IL1R2
interleukin 1 receptor type 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:20062062
NCBI chr 2:101,991,960...102,028,544
Ensembl chr 2:101,991,960...102,028,544
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IL23R
interleukin 23 receptor
no_association
IAGP EXP
DNA:SNPs,haplotype:multiple: CTD Direct Evidence: marker/mechanism DNA:SNP: :rs11209026(human)
CTD RGD
PMID:17952073 PMID:20062062 PMID:19522770 PMID:19877036
RGD:8549549 , RGD:8549630
NCBI chr 1:67,138,637...67,265,903
Ensembl chr 1:67,138,907...67,259,979
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IL6
interleukin 6
IEP
protein:increased expression:serum:
RGD
PMID:26339141
RGD:12792209
NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002
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IRAK1
interleukin 1 receptor associated kinase 1
susceptibility
IAGP
DNA:SNP:enhancer: (rs3027898) (human)
RGD
PMID:20500689
RGD:7495783
NCBI chr X:154,010,507...154,019,902
Ensembl chr X:154,010,506...154,019,902
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JAK2
Janus kinase 2
susceptibility
IAGP
DNA:SNPs, haplotype:introns: (rs1536798, rs10119004, rs7857730) (human)
RGD
PMID:20627814
RGD:6483025
NCBI chr 9:4,984,390...5,129,948
Ensembl chr 9:4,984,390...5,129,948
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KDM5A
lysine demethylase 5A
susceptibility
IAGP
DNA:snps:intron:IVST>A, IVS-1467C>T, IVS+828T>C (rs7134353, rs2284336, rs11062357) (human)
RGD
PMID:24069348
RGD:9588532
NCBI chr12:280,057...389,320
Ensembl chr12:280,057...389,320
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MTHFR
methylenetetrahydrofolate reductase
susceptibility
IAGP
DNA:SNP:cds:677C>T (human)
RGD
PMID:25060515
RGD:42722610
NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455
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PGF
placental growth factor
IEP
RGD
PMID:21873332
RGD:6483576
NCBI chr14:74,941,830...74,955,764
Ensembl chr14:74,941,834...74,955,626
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PSMB9
proteasome 20S subunit beta 9
IAGP
DNA: snp: rs17587
RGD
PMID:22034108
RGD:6483349
NCBI chr 6:32,854,192...32,859,851
Ensembl chr 6:32,844,136...32,859,851
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PTGER4
prostaglandin E receptor 4
IAGP EXP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:21743469 PMID:21743469
RGD:6483530
NCBI chr 5:40,679,915...40,746,800
Ensembl chr 5:40,679,915...40,693,735
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RUNX3
RUNX family transcription factor 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21743469
NCBI chr 1:24,899,511...24,965,138
Ensembl chr 1:24,899,511...24,965,121
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TAP1
transporter 1, ATP binding cassette subfamily B member
IAGP
DNA:SNPs: :
RGD
PMID:19480848
RGD:6482250
NCBI chr 6:32,845,209...32,853,704
Ensembl chr 6:32,845,209...32,853,816
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TAP2
transporter 2, ATP binding cassette subfamily B member
IAGP
DNA:SNPs: :
RGD
PMID:19480848
RGD:6482250
NCBI chr 6:32,821,831...32,838,739
Ensembl chr 6:32,821,833...32,838,739
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TBKBP1
TBK1 binding protein 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21743469
NCBI chr17:47,694,063...47,712,063
Ensembl chr17:47,694,161...47,712,052
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THBD
thrombomodulin
IEP
protein:increased expression:serum
RGD
PMID:21556780
RGD:5684983
NCBI chr20:23,045,633...23,049,672
Ensembl chr20:23,045,633...23,049,672
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TLR4
toll like receptor 4
IEP
mRNA:increased expression:blood cell:
RGD
PMID:20952467
RGD:7794744
NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735
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TLR5
toll like receptor 5
IEP
mRNA:increased expression:blood cell:
RGD
PMID:20952467
RGD:7794744
NCBI chr 1:223,109,404...223,143,248
Ensembl chr 1:223,109,404...223,143,292
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TNFRSF1B
TNF receptor superfamily member 1B
IDA
RGD
PMID:21317434
RGD:5131280
NCBI chr 1:12,166,991...12,209,220
Ensembl chr 1:12,166,991...12,209,228
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VIP
vasoactive intestinal peptide
IEP
protein:increased expression:plasma
RGD
PMID:20340024
RGD:5685387
NCBI chr 6:152,750,797...152,759,760
Ensembl chr 6:152,750,797...152,759,765
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ACYP2
acylphosphatase 2
IAGP
ClinVar Annotator: match by term: Chronic osteomyelitis
ClinVar
NCBI chr 2:53,971,113...54,305,300
Ensembl chr 2:53,970,838...54,305,300
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IL1R1
interleukin 1 receptor type 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 2:102,070,390...102,179,874
Ensembl chr 2:102,064,544...102,179,874
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LOC110806263
TERT 5' regulatory region
IAGP
ClinVar Annotator: match by term: Chronic osteomyelitis
ClinVar
PMID:16890917
NCBI chr 5:1,294,628...1,298,988
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MLKL
mixed lineage kinase domain like pseudokinase
IAGP
ClinVar Annotator: match by term: Chronic multifocal osteomyelitis
ClinVar
NCBI chr16:74,671,855...74,700,862
Ensembl chr16:74,671,855...74,700,960
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MYNN
myoneurin
IAGP
ClinVar Annotator: match by term: Chronic osteomyelitis
ClinVar
NCBI chr 3:169,773,396...169,789,716
Ensembl chr 3:169,773,396...169,789,716
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PSTPIP2
proline-serine-threonine phosphatase interacting protein 2
ISS
OMIM:259680
MouseDO
NCBI chr18:45,983,536...46,072,260
Ensembl chr18:45,983,536...46,072,272
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TERT
telomerase reverse transcriptase
IAGP
ClinVar Annotator: match by term: Chronic osteomyelitis
ClinVar
PMID:16890917 PMID:28492532
NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068
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ZBTB46
zinc finger and BTB domain containing 46
IAGP
ClinVar Annotator: match by term: Chronic osteomyelitis
ClinVar
NCBI chr20:63,743,670...63,833,895
Ensembl chr20:63,743,668...63,832,038
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IL1F10
interleukin 1 family member 10
IAGP
ClinVar Annotator: match by term: Sterile multifocal osteomyelitis with periostitis and pustulosis
ClinVar
PMID:19494218 PMID:21792839 PMID:22940634 PMID:23698098 PMID:26100510 PMID:28492532 More...
NCBI chr 2:113,067,970...113,075,843
Ensembl chr 2:113,067,970...113,075,843
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IL1RN
interleukin 1 receptor antagonist
IAGP
ClinVar Annotator: match by term: Sterile multifocal osteomyelitis with periostitis and pustulosis
ClinVar OMIM
PMID:9536098 PMID:12837270 PMID:16199547 PMID:16519819 PMID:17576681 PMID:19280228 PMID:19494218 PMID:19494219 PMID:19729864 PMID:20213597 PMID:20842532 PMID:21279638 PMID:21792839 PMID:22032624 PMID:22127713 PMID:22940634 PMID:23698098 PMID:24033266 PMID:24863340 PMID:25501066 PMID:25741868 PMID:26100510 PMID:28236224 PMID:28492532 PMID:32819369 More...
NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016
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IL36RN
interleukin 36 receptor antagonist
IAGP
ClinVar Annotator: match by term: Sterile multifocal osteomyelitis with periostitis and pustulosis
ClinVar
PMID:19494218 PMID:21792839 PMID:22940634 PMID:23698098 PMID:26100510 PMID:28492532 More...
NCBI chr 2:113,058,638...113,064,744
Ensembl chr 2:113,058,638...113,065,382
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NFKBIA
NFKB inhibitor alpha
IAGP
ClinVar Annotator: match by term: Sterile multifocal osteomyelitis with periostitis and pustulosis
ClinVar
NCBI chr14:35,401,513...35,404,749
Ensembl chr14:35,401,079...35,404,749
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IL1R1
interleukin 1 receptor type 1
IAGP
ClinVar Annotator: match by term: Chronic recurrent multifocal osteomyelitis 3
OMIM ClinVar
NCBI chr 2:102,070,390...102,179,874
Ensembl chr 2:102,064,544...102,179,874
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EMILIN2
elastin microfibril interfacer 2
IAGP
ClinVar Annotator: match by term: Majeed syndrome
ClinVar
PMID:15994876 PMID:23087183 PMID:28492532
NCBI chr18:2,846,232...2,916,003
Ensembl chr18:2,847,006...2,916,003
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LOC130062090
ATAC-STARR-seq lymphoblastoid active region 13029
IAGP
ClinVar Annotator: match by term: Majeed syndrome
ClinVar
PMID:28492532
NCBI chr18:2,957,039...2,957,098
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LOC130062091
ATAC-STARR-seq lymphoblastoid active region 13030
IAGP
ClinVar Annotator: match by term: Majeed syndrome
ClinVar
PMID:28492532
NCBI chr18:2,957,974...2,958,133
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LOC130062092
ATAC-STARR-seq lymphoblastoid active region 13031
IAGP
ClinVar Annotator: match by term: Majeed syndrome
ClinVar
PMID:28492532
NCBI chr18:2,960,318...2,960,417
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LPIN2
lipin 2
IAGP EXP
ClinVar Annotator: match by term: Majeed syndrome CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:2809904 PMID:9536098 PMID:10969284 PMID:11795677 PMID:15994876 PMID:16199547 PMID:17330256 PMID:17576681 PMID:18409191 PMID:19717560 PMID:20032092 PMID:20301735 PMID:20645851 PMID:23087183 PMID:24033266 PMID:25525159 PMID:25741868 PMID:26386126 PMID:27860302 PMID:28492532 PMID:28600779 PMID:29387759 PMID:31598604 PMID:31727123 PMID:33314777 PMID:33670882 More...
NCBI chr18:2,916,994...3,013,144
Ensembl chr18:2,885,296...3,013,144
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MYL12A
myosin light chain 12A
IAGP
ClinVar Annotator: match by term: Majeed syndrome
ClinVar
PMID:28492532
NCBI chr18:3,247,482...3,256,237
Ensembl chr18:3,247,481...3,256,236
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MYL12B
myosin light chain 12B
IAGP
ClinVar Annotator: match by term: Majeed syndrome
ClinVar
PMID:28492532
NCBI chr18:3,262,133...3,278,461
Ensembl chr18:3,261,479...3,278,461
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MYOM1
myomesin 1
IAGP
ClinVar Annotator: match by term: Majeed syndrome
ClinVar
PMID:28492532
NCBI chr18:3,066,807...3,247,376
Ensembl chr18:3,066,807...3,219,968
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SMCHD1
structural maintenance of chromosomes flexible hinge domain containing 1
IAGP
ClinVar Annotator: match by term: Majeed syndrome
ClinVar
PMID:15994876 PMID:23087183 PMID:28492532
NCBI chr18:2,655,726...2,805,017
Ensembl chr18:2,655,726...2,805,017
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TGIF1
TGFB induced factor homeobox 1
IAGP
ClinVar Annotator: match by term: Majeed syndrome
ClinVar
PMID:28492532
NCBI chr18:3,412,009...3,459,978
Ensembl chr18:3,411,608...3,459,978
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CRP
C-reactive protein
disease_progression
IEP
RGD
PMID:22578647
RGD:9491592
NCBI chr 1:159,712,289...159,714,589
Ensembl chr 1:159,712,289...159,714,589
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RELA
RELA proto-oncogene, NF-kB subunit
IEP
protein:increased expression:mucosa of middle ear,skin of ear canal:
RGD
PMID:24690988
RGD:8552995
NCBI chr11:65,653,601...65,663,857
Ensembl chr11:65,653,599...65,663,090
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TLR2
toll like receptor 2
IEP
protein:increased expression:mucosa of middle ear,skin of ear canal:
RGD
PMID:24690988
RGD:8552995
NCBI chr 4:153,684,280...153,710,637
Ensembl chr 4:153,684,050...153,706,260
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TLR4
toll like receptor 4
IEP
protein:increased expression:mucosa of middle ear,skin of ear canal:
RGD
PMID:24690988
RGD:8552995
NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735
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HLA-DQB1
major histocompatibility complex, class II, DQ beta 1
susceptibility
IAGP
associated with Anemia, Sickle Cell;DNA:polymorphisms, haplotypes:cds:HLA-DQB1*050101, HLA-DQB1*0201, HLA-DQB1*0302 (human)
RGD
PMID:18312480
RGD:11041747
NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383
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HLA-DQA1
major histocompatibility complex, class II, DQ alpha 1
susceptibility
IAGP
DNA:missense mutation:CDS:c.592C>G (p.Q198E) (human)
RGD
PMID:29795056
RGD:126928140
NCBI chr 6:32,637,406...32,655,272
Ensembl chr 6:32,628,179...32,647,062
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CXCL8
C-X-C motif chemokine ligand 8
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:34697729
NCBI chr 4:73,740,569...73,743,716
Ensembl chr 4:73,740,519...73,743,716
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DUSP1
dual specificity phosphatase 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:34697729
NCBI chr 5:172,768,096...172,771,195
Ensembl chr 5:172,768,096...172,771,195
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IL6
interleukin 6
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:34697729
NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002
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LRP5
LDL receptor related protein 5
susceptibility
IAGP
DNA:polymorphism:cds:p.Q89R(human)
RGD
PMID:17202888
RGD:12792278
NCBI chr11:68,298,412...68,449,275
Ensembl chr11:68,312,591...68,449,275
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MIR337
microRNA 337
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:34697729
NCBI chr14:100,874,493...100,874,585
Ensembl chr14:100,874,493...100,874,585
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SKP2
S-phase kinase associated protein 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:34697729
NCBI chr 5:36,152,111...36,193,530
Ensembl chr 5:36,151,989...36,196,849
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TNF
tumor necrosis factor
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:34697729
NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
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B2M
beta-2-microglobulin
IMP
RGD
PMID:16575857
RGD:6482692
NCBI chr15:44,711,517...44,718,145
Ensembl chr15:44,711,358...44,718,851
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HLA-B
major histocompatibility complex, class I, B
susceptibility
IAGP
DNA:polymorphism:cds:HLA-B*2714, B*2705 (human)
RGD
PMID:12889998
RGD:10755578
NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067
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IL17A
interleukin 17A
ISO
protein:increased expression:serum (rat)
RGD
PMID:21905004
RGD:9068946
NCBI chr 6:52,186,375...52,190,638
Ensembl chr 6:52,186,375...52,190,638
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PSMB9
proteasome 20S subunit beta 9
no_association
IAGP
RGD
PMID:15603870 PMID:9496154
RGD:6483462 , RGD:6483495
NCBI chr 6:32,854,192...32,859,851
Ensembl chr 6:32,844,136...32,859,851
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RUNX2
RUNX family transcription factor 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:20008919
NCBI chr 6:45,328,330...45,551,082
Ensembl chr 6:45,328,157...45,664,349
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