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: rheumatoid arthritis
Accession: DOID:7148
browse the term
Definition: An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint. (DO)
Synonyms: exact_synonym: RA; atrophic arthritis; rheumatic arthritis or polyarthritis
narrow_synonym: ACPA-negative rheumatoid arthritis; ACPA-positive rheumatoid arthritis; CD244-RELATED CONDITION; RHEUMATOID ARTHRITIS, PROGRESSION OF; SLC22A4-RELATED CONDITION
related_synonym: rheumatoid arthritis, susceptibility to
primary_id: MESH:D001172
alt_id: MIM:180300
xref: EFO:0000685 ; EFO:0009459 ; EFO:0009460 ; ICD10CM:M06.9 ; ICD9CM:714.0 ; NCI:C2884
For additional species annotation, visit the
Alliance of Genome Resources .
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ABCB1
ATP-binding cassette, sub-family B (MDR/TAP), member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20080907 PMID:22104130
NCBI chr 9:93,049,955...93,146,469
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ABCC2
ATP binding cassette subfamily C member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23897011
NCBI chr14:110,955,698...111,038,898
Ensembl chr14:110,955,582...111,038,898
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ABCC3
ATP binding cassette subfamily C member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23897011
NCBI chr12:26,920,764...26,978,389
Ensembl chr12:26,920,821...26,979,602
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ABCC4
ATP binding cassette subfamily C member 4 (PEL blood group)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23897011
NCBI chr11:64,089,149...64,309,831
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ABCC5
ATP binding cassette subfamily C member 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23897011
NCBI chr13:121,868,614...121,957,901
Ensembl chr13:121,869,600...121,926,071
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ABCG2A
ATP binding cassette subfamily G member 2A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23897011
NCBI chr 8:130,853,414...130,945,388
Ensembl chr 8:130,775,444...130,945,393
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ACAN
aggrecan
disease_progression
ISO
protein:increased degradation:cartilage CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:15292528 PMID:16507130
RGD:11570537
NCBI chr 7:54,449,830...54,520,606
Ensembl chr 7:54,449,816...54,519,194
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ACKR3
atypical chemokine receptor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19192274
NCBI chr15:136,370,457...136,382,559
Ensembl chr15:136,370,530...136,382,553
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ADAMTS4
ADAM metallopeptidase with thrombospondin type 1 motif 4
ISO
mRNA:increased expression:synovium
RGD
PMID:11801682
RGD:10043106
NCBI chr 4:89,260,354...89,269,238
Ensembl chr 4:89,260,461...89,269,244
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ADAMTS5
ADAM metallopeptidase with thrombospondin type 1 motif 5
ISO
protein:alternative form:synovium
RGD
PMID:11801682
RGD:10043106
NCBI chr13:190,353,019...190,413,110
Ensembl chr13:190,361,744...190,413,110
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ADIPOQ
adiponectin, C1Q and collagen domain containing
ISO
protein:increased expression:serum CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:12833524 PMID:21789720
RGD:5686424
NCBI chr13:124,633,906...124,646,237
Ensembl chr13:124,633,685...124,646,646
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ADORA2A
adenosine A2a receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19192274
NCBI chr14:49,467,186...49,485,845
Ensembl chr14:49,468,877...49,485,850
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ADRB3
adrenoceptor beta 3
ISO
DNA:missense mutation:cds:p.W64R rs4994 (human)
RGD
PMID:12739037
RGD:5684893
NCBI chr15:48,468,803...48,478,370
Ensembl chr15:48,475,144...48,479,562
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AFF3
ALF transcription elongation factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20453842 PMID:23143596
NCBI chr 3:54,135,476...54,730,201
Ensembl chr 3:54,135,532...54,727,885
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AGER
advanced glycosylation end-product specific receptor
ISO
protein:decreased expression:plasma (human) CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:16385501 PMID:20541603
RGD:7244141
NCBI chr 7:24,218,116...24,221,162
Ensembl chr 7:24,218,120...24,221,162
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AHR
aryl hydrocarbon receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18617548
NCBI chr 9:86,511,866...86,555,950
Ensembl chr 9:86,511,369...86,555,943
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ALOX5
arachidonate 5-lipoxygenase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12833524
NCBI chr14:90,859,209...90,907,084
Ensembl chr14:90,859,019...90,907,090
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AMCF-II
alveolar macrophage-derived chemotactic factor-II
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15292528
NCBI chr 8:70,008,225...70,010,360
Ensembl chr 8:70,008,162...70,010,358
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ANG
angiogenin
ISO
RGD
PMID:12653852
RGD:6892721
NCBI chr 7:78,249,479...78,262,846
Ensembl chr 7:78,249,487...78,250,138
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ANKRD55
ankyrin repeat domain 55
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143596
NCBI chr16:35,231,670...35,662,787
Ensembl chr16:35,231,673...35,330,790
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ANXA3
annexin A3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22446963
NCBI chr 8:73,970,314...73,993,039
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APOA4
apolipoprotein A4
ISO
protein:increased expression:blood serum (human)
RGD
PMID:20367977
RGD:5685646
NCBI chr 9:44,201,587...44,204,072
Ensembl chr 9:44,201,508...44,204,206
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ARID5B
AT-rich interaction domain 5B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22446963 PMID:23143596
NCBI chr14:65,408,603...65,598,485
Ensembl chr14:65,408,598...65,598,485
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ATIC
5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19193698
NCBI chr15:117,617,584...117,649,063
Ensembl chr15:117,617,502...117,649,107
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AZGP1
alpha-2-glycoprotein 1, zinc-binding
ISO
mRNA:decreased expression:liver
RGD
PMID:18372237
RGD:153352318
NCBI chr 3:7,867,521...7,874,857
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B3GNT2
UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22446963
NCBI chr 3:79,671,393...79,704,049
Ensembl chr 3:79,670,748...79,704,000
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B3GNT9
UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17379860
NCBI chr 6:27,791,387...27,797,458
Ensembl chr 6:27,792,134...27,795,361
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BAIAP2L1
BAR/IMD domain containing adaptor protein 2 like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17568789
NCBI chr 3:5,472,305...5,567,926
Ensembl chr 3:5,472,315...5,567,876
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BCL2A1
BCL2 related protein A1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19192274
NCBI chr 7:48,887,227...48,897,667
Ensembl chr 7:48,887,094...48,897,870
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BDKRB2
bradykinin receptor B2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12833524
NCBI chr 7:117,438,622...117,472,005
Ensembl chr 7:117,438,713...117,472,005
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BGN
biglycan
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15292528
NCBI chr X:124,282,048...124,295,450
Ensembl chr X:124,275,305...124,295,445
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BLK
BLK proto-oncogene, Src family tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20453842 PMID:23143596
NCBI chr14:14,688,489...14,745,946
Ensembl chr14:14,688,943...14,745,947
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BMP4
bone morphogenetic protein 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20008919
NCBI chr 1:183,415,989...183,422,888
Ensembl chr 1:183,416,146...183,422,637
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BMP6
bone morphogenetic protein 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20008919
NCBI chr 7:5,058,817...5,208,868
Ensembl chr 7:5,058,817...5,210,270
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BTNL2
butyrophilin like 2
susceptibility
ISO
DNA:SNPs: :
RGD
PMID:23364395
RGD:9685033
NCBI chr 7:24,789,988...24,809,920
Ensembl chr 7:24,789,888...24,810,132
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C3
complement C3
ISO
RGD
PMID:7561187
RGD:11040775
NCBI chr 2:72,431,470...72,471,622
Ensembl chr 2:72,431,212...72,472,228
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C4A
complement C4A (Rodgers blood group)
ISO
RGD
PMID:22076784
RGD:5688263
NCBI chr 7:24,068,019...24,083,060
Ensembl chr 7:24,068,013...24,083,065
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CA1
carbonic anhydrase 1
ISO
RGD
PMID:12806141
RGD:408425977
NCBI chr 4:51,343,548...51,353,127
Ensembl chr 4:51,302,406...51,353,126
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CA2
carbonic anhydrase 2
ISO
RGD
PMID:12806141
RGD:408425977
NCBI chr 4:51,194,686...51,211,436
Ensembl chr 4:51,193,756...51,211,259
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CALD1
caldesmon 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15292528
NCBI chr18:14,267,955...14,486,641
Ensembl chr18:14,267,959...14,486,726
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CASP7
caspase 7
ISO
RGD
PMID:18785314
RGD:5684540
NCBI chr14:124,017,776...124,050,369
Ensembl chr14:124,019,164...124,050,365
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CAST
calpastatin
ISO
RGD
PMID:7706496
RGD:5683620
NCBI chr 2:103,255,738...103,378,623
Ensembl chr 2:103,255,750...103,378,623
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CAT
catalase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22450443
NCBI chr 2:26,493,664...26,533,881
Ensembl chr 2:26,487,653...26,581,452
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CAV2
caveolin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17379860
NCBI chr18:29,699,012...29,707,277
Ensembl chr18:29,699,020...29,707,277
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CCL2
chemokine (C-C motif) ligand 2
ISO
protein:increased expression:serum
RGD
PMID:20056091
RGD:4891442
NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,026
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CCL21
C-C motif chemokine ligand 21
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18794853 PMID:20453842 PMID:23143596
NCBI chr10:32,093,783...32,094,482
Ensembl chr10:32,093,763...32,096,224
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CCL22
C-C motif chemokine ligand 22
ISO
protein:increased expression:plasma:
RGD
PMID:19942450
RGD:10054497
NCBI chr 6:19,296,726...19,301,506
Ensembl chr 6:19,296,637...19,302,737
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CCL8
chemokine (C-C motif) ligand 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17568789
NCBI chr12:40,740,468...40,741,970
Ensembl chr12:40,740,023...40,742,022
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CCN1
cellular communication network factor 1
ISO
CTD Direct Evidence: marker/mechanism protein:increased expression:blood serum (human)
CTD RGD
PMID:19192274 PMID:34031328
RGD:329845561
NCBI chr 4:130,392,404...130,395,179
Ensembl chr 4:130,392,407...130,395,150
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CCN2
cellular communication network factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19192274
NCBI chr 1:31,674,398...31,677,697
Ensembl chr 1:31,674,394...31,677,691
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CCR1
C-C motif chemokine receptor 1
ISO
RGD
PMID:12860725
RGD:5688170
NCBI chr13:29,227,218...29,233,862
Ensembl chr13:29,227,222...29,233,960
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CCR2
C-C motif chemokine receptor 2
ISO
protein:increased expression:synovial fluid, neutrophil
RGD
PMID:19017998
RGD:4145632
NCBI chr13:29,251,950...29,286,470
Ensembl chr13:29,285,012...29,286,467
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CCR4
C-C motif chemokine receptor 4
ISO
mRNA:increased expression:synovium: protein:increased expression:synovial membrane:
RGD
PMID:19942450 PMID:25430645
RGD:10054497 RGD:10054499
NCBI chr13:18,860,596...18,865,987
Ensembl chr13:18,860,730...18,865,983
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CCR5
C-C motif chemokine receptor 5
resistance no_association
ISO
DNA:frameshift mutation:cds:p.S185_T195del rs333 (human)
RGD
PMID:16541097 PMID:17565662
RGD:1626283 RGD:1626290
NCBI chr13:29,382,383...29,387,902
Ensembl chr13:29,383,303...29,387,895
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CCR6
C-C motif chemokine receptor 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20453841 PMID:20453842 PMID:23143596
NCBI chr 1:2,016,600...2,034,172
Ensembl chr 1:2,018,608...2,019,821
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CD2
CD2 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143596
NCBI chr 4:103,963,802...103,976,971
Ensembl chr 4:103,963,345...103,977,292
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CD244
CD244 molecule
susceptibility
ISO
ClinVar Annotator: match by term: CD244-related condition | ClinVar Annotator: match by term: Rheumatoid arthritis
OMIM ClinVar
PMID:18794858 PMID:25741868 PMID:28492532
NCBI chr 4:89,668,221...89,700,974
Ensembl chr 4:89,668,239...89,700,972
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CD28
CD28 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19075187 PMID:19898481 PMID:20453842 PMID:23143596
RGD:5131619
NCBI chr15:107,128,103...107,155,431
Ensembl chr15:107,128,203...107,162,935
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CD3E
CD3 epsilon subunit of T-cell receptor complex
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12833524
NCBI chr 9:45,619,730...45,633,972
Ensembl chr 9:45,619,482...45,633,968
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CD40
CD40 molecule
ISO
DNA:SNP: :rs4810485 (human) CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:18794853 PMID:20453842 PMID:20498205 PMID:23143596
RGD:5490972
NCBI chr17:48,286,116...48,298,188
Ensembl chr17:48,286,029...48,298,528
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CD5
CD5 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143596
NCBI chr 2:10,648,973...10,673,479
Ensembl chr 2:10,648,974...10,673,919
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CD80
CD80 molecule
ISO
protein:increased expression:serum
RGD
PMID:22917707
RGD:6893647
NCBI chr13:140,693,312...140,730,541
Ensembl chr13:140,693,382...140,728,976
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CD83
CD83 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22446963
NCBI chr 7:10,346,122...10,385,968
Ensembl chr 7:10,359,211...10,385,961
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CDK6
cyclin dependent kinase 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18794853
NCBI chr 9:72,510,858...72,765,631
Ensembl chr 9:72,518,101...72,764,129
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CEBPB
CCAAT enhancer binding protein beta
ISO
protein:increased expression:knee, articular cartilage (human)
RGD
PMID:19248099
RGD:10401213
NCBI chr17:51,722,633...51,723,673
Ensembl chr17:51,722,426...51,724,305
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CHI3L1
chitinase 3 like 1
severity
ISO
protein:increased secretion:serum (human)
RGD
PMID:10461474
RGD:4892605
NCBI chr 9:113,885,541...113,895,033
Ensembl chr 9:113,885,542...113,895,131
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CHRNA7
cholinergic receptor nicotinic alpha 7 subunit
ISO
mRNA,protein:increased expression:joint, spleen:
RGD
PMID:31279484
RGD:151676715
NCBI chr 1:142,803,697...142,937,124
Ensembl chr 1:142,803,701...142,937,123
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CHRNG
cholinergic receptor nicotinic gamma subunit
ISO
ClinVar Annotator: match by term: Rheumatoid arthritis
ClinVar
PMID:23261301 PMID:25741868 PMID:28492532
NCBI chr15:133,051,668...133,059,935
Ensembl chr15:133,052,031...133,058,544
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CIITA
class II major histocompatibility complex transactivator
no_association susceptibility
ISO
DNA:polymorphism:promoter:rs3087456, no association in a German cohort DNA:polymorphism:promoter:-168A>G ClinVar Annotator: match by term: RHEUMATOID ARTHRITIS, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Rheumatoid arthritis
RGD OMIM ClinVar
PMID:8402893 PMID:9099848 PMID:15821736 PMID:16199547 PMID:16426246 PMID:16849401 PMID:24033266 PMID:25741868 PMID:26271388 PMID:28492532 More...
RGD:1358146 RGD:5491189
NCBI chr 3:32,171,706...32,230,775
Ensembl chr 3:32,172,214...32,230,780
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CLEC12A
C-type lectin domain family 12 member A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17568789
NCBI chr 5:61,923,057...61,936,843
Ensembl chr 5:61,922,895...61,937,096
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CLEC16A
C-type lectin domain containing 16A
ISO
DNA:polymorphism:intron:rs6498169G
RGD
PMID:19221398
RGD:5491176
NCBI chr 3:31,938,133...32,158,343
Ensembl chr 3:31,938,135...32,158,320
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COL2A1
collagen type II alpha 1 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27028940 PMID:29935983
NCBI chr 5:78,350,131...78,380,893
Ensembl chr 5:78,350,137...78,380,718
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CP
ceruloplasmin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26001728
NCBI chr13:89,396,713...89,463,540
Ensembl chr13:89,396,708...89,463,476
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CRP
C-reactive protein, pentraxin-related
ISO
CTD Direct Evidence: marker/mechanism protein:increased expression:serum
RGD CTD
PMID:1568518 PMID:22173958
RGD:6904209
NCBI chr 4:90,793,361...90,801,020
Ensembl chr 4:90,793,350...90,805,218
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CSF2
colony stimulating factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22446963
NCBI chr 2:134,354,724...134,357,155
Ensembl chr 2:134,354,724...134,357,155
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CTLA4
cytotoxic T-lymphocyte associated protein 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20453842 PMID:23143596
NCBI chr15:107,283,081...107,288,041
Ensembl chr15:107,282,927...107,289,103
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CTSD
cathepsin D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12833524
NCBI chr 2:1,188,548...1,197,642
Ensembl chr 2:1,188,549...1,197,643
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CX3CL1
C-X3-C motif chemokine ligand 1
ISO
RGD
PMID:11465708
RGD:4892002
NCBI chr 6:19,312,351...19,324,439
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CXCL2
chemokine (C-X-C motif) ligand 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15292528
NCBI chr 8:70,157,253...70,159,145
Ensembl chr 8:70,157,214...70,159,138
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CXCL8
C-X-C motif chemokine ligand 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17379860 PMID:19192274
NCBI chr 8:69,932,646...69,935,861
Ensembl chr 8:69,932,643...69,935,861
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CXCR3
C-X-C motif chemokine receptor 3
ISO
protein:increased expression:synovial fluid, neutrophil
RGD
PMID:19017998
RGD:4145632
NCBI chr X:57,592,032...57,595,706
Ensembl chr X:57,592,038...57,595,692
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CXCR4
C-X-C motif chemokine receptor 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19192274
NCBI chr15:15,663,652...15,666,706
Ensembl chr15:15,663,494...15,667,232
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CYBB
cytochrome b-245 beta chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24313545
NCBI chr X:33,654,656...33,678,346
Ensembl chr X:33,643,648...33,680,580
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DDIT4
DNA damage inducible transcript 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17379860
NCBI chr14:75,117,708...75,119,907
Ensembl chr14:75,117,710...75,119,902
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DDX6
DEAD-box helicase 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143596
NCBI chr 9:46,025,616...46,063,836
Ensembl chr 9:46,025,625...46,063,818
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DHFR
dihydrofolate reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23897011
NCBI chr 2:89,230,660...89,255,830
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DNASE1L3
deoxyribonuclease 1L3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143596 PMID:30224649
NCBI chr13:39,958,384...39,976,114
Ensembl chr13:39,958,387...39,975,946
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DNASE2
deoxyribonuclease 2, lysosomal
ISO
OMIM:180300
MouseDO
NCBI chr 2:66,150,071...66,152,857
Ensembl chr 2:66,149,862...66,152,855
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DNMT1
DNA methyltransferase 1
severity
ISO
mRNA:increased expression:mononuclear cell
RGD
PMID:20937307
RGD:9588623
NCBI chr 2:68,981,564...69,040,364
Ensembl chr 2:68,981,566...69,029,844
G
DNMT3B
DNA methyltransferase 3 beta
disease_progression
ISO
DNA:polymorphism:promoter:-283C>T(human)
RGD
PMID:19777235
RGD:9589110
NCBI chr17:36,345,715...36,386,076
Ensembl chr17:36,345,816...36,386,072
G
EDN1
endothelin 1
treatment
ISO
RGD
PMID:22249931
RGD:8661695
NCBI chr 7:8,752,018...8,758,354
Ensembl chr 7:8,751,695...8,758,348
G
ELN
elastin
ISO
RGD
PMID:12643515
RGD:9585739
NCBI chr 3:11,214,194...11,245,891
Ensembl chr 3:11,214,205...11,244,897
G
ENO1
enolase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19898480
NCBI chr 6:69,385,879...69,401,664
Ensembl chr 6:69,385,879...69,401,151
G
EPAS1
endothelial PAS domain protein 1
ISO
protein:increased expression:layer of synovial tissue, stromal cell
RGD
PMID:12823854
RGD:10395366
NCBI chr 3:94,167,759...94,253,662
Ensembl chr 3:94,165,816...94,254,079
G
ESCO2
establishment of sister chromatid cohesion N-acetyltransferase 2
ISO
mRNA:increased expression:peripheral blood mononuclear cell
RGD
PMID:36104638
RGD:155791669
NCBI chr14:11,495,297...11,532,898
G
ESR2
estrogen receptor 2
severity
ISO
DNA:SNP:exon:rs1256049(human)
RGD
PMID:21523342
RGD:5508794
NCBI chr 1:193,823,666...193,907,330
Ensembl chr 1:193,829,560...193,906,565
G
F2
coagulation factor II, thrombin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26001728
NCBI chr 2:15,793,257...15,819,151
Ensembl chr 2:15,791,455...15,819,137
G
FAS
Fas cell surface death receptor
susceptibility
ISO
DNA:snp:promoter:g.-670A>G (human) protein:increased expression:serum (human)
RGD
PMID:12148596 PMID:20875116 PMID:23053964
RGD:12903969 RGD:8662433 RGD:8662455
NCBI chr14:100,927,305...100,954,781
Ensembl chr14:100,927,089...100,956,716
G
FASLG
Fas ligand
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20008919
NCBI chr 9:115,068,314...115,075,147
Ensembl chr 9:115,068,090...115,076,464
G
FCGR1A
Fc fragment of IgG, high affinity Ia, receptor (CD64)
ISO
protein:increased expression:synovial joint:
RGD
PMID:16670289
RGD:9685708
NCBI chr 4:99,233,632...99,242,531
Ensembl chr 4:99,233,611...99,242,586
G
FCGR3A
Fc fragment of IgG receptor IIIa
susceptibility
ISO
DNA:polymorphism:exon:p.F158V(rs396991)(human) DNA:CNVs protein:decreased expression:NK cell
RGD
PMID:15334114 PMID:19019892 PMID:25154742
RGD:11344974 RGD:5508391 RGD:5508467
NCBI chr 4:88,948,357...88,956,513
G
FKBP5
FKBP prolyl isomerase 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12833524
NCBI chr 7:31,441,764...31,550,704
Ensembl chr 7:31,440,842...31,567,487
G
FOXO3
forkhead box O3
ISO
mRNA,protein:increased expression:peripheral blood mononuclear cell, polymorphonuclear cell,synovium:
RGD
PMID:19435720
RGD:10402186
NCBI chr 1:74,626,673...74,760,323
Ensembl chr 1:74,628,218...74,760,325
G
FOXP3
forkhead box P3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20476861
NCBI chr X:43,303,777...43,328,164
Ensembl chr X:43,303,785...43,322,968
G
FPGS
folylpolyglutamate synthase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23897011
NCBI chr 1:268,281,298...268,309,397
Ensembl chr 1:268,287,765...268,309,398
G
GART
phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23897011
NCBI chr13:197,130,898...197,158,797
Ensembl chr13:197,130,904...197,161,891
G
GATA3
GATA binding protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143596
NCBI chr10:63,367,684...63,397,977
Ensembl chr10:63,367,663...63,388,859
G
GC
GC vitamin D binding protein
ISO
CTD Direct Evidence: marker/mechanism protein:decreased expression:plasma
CTD RGD
PMID:3874814 PMID:9548303
RGD:5509931
NCBI chr 8:68,326,293...68,360,262
Ensembl chr 8:68,326,299...68,360,262
G
GDF5
growth differentiation factor 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18830904
NCBI chr17:38,792,854...38,796,806
Ensembl chr17:38,792,187...38,797,005
G
GGH
gamma-glutamyl hydrolase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23897011
NCBI chr 4:70,996,730...71,020,513
Ensembl chr 4:70,996,755...71,021,838
G
GIN1
gypsy retrotransposon integrase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143596
NCBI chr 2:108,561,132...108,599,017
Ensembl chr 2:108,561,387...108,597,262
G
GPRC5A
G protein-coupled receptor class C group 5 member A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17379860
NCBI chr 5:59,565,793...59,586,641
Ensembl chr 5:59,565,799...59,586,600
G
GRK2
G protein-coupled receptor kinase 2
ISO
protein: decreased expression: mononuclear leukocytes DNA: deletion: : heterozygous CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:10094932 PMID:18662895
RGD:5688373 RGD:5688380
NCBI chr 2:5,209,435...5,227,543
Ensembl chr 2:5,209,439...5,227,758
G
GRK5
G protein-coupled receptor kinase 5
no_association
ISO
protein: : mononuclear blood cells DNA: deletion::GRK2 and GRK6 deletions resulted in more severe arthritis
RGD
PMID:10094932 PMID:18662895
RGD:5688373 RGD:5688380
NCBI chr14:129,113,933...129,351,135
Ensembl chr14:129,113,603...129,347,152
G
GRK6
G protein-coupled receptor kinase 6
ISO
protein: decreased expression: mononuclear leukocytes DNA: deletion: : homozygous CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:10094932 PMID:18662895
RGD:5688373 RGD:5688380
NCBI chr 2:80,496,105...80,527,208
Ensembl chr 2:80,508,979...80,527,210
G
GSDME
gasdermin E
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17379860
NCBI chr18:47,524,637...47,583,748
Ensembl chr18:47,526,797...47,583,731
G
HAPLN1
hyaluronan and proteoglycan link protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17568789
NCBI chr 2:91,857,495...91,935,485
Ensembl chr 2:91,857,582...91,907,351
G
HCLS1
hematopoietic cell-specific Lyn substrate 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12833524
NCBI chr13:138,852,387...138,883,088
Ensembl chr13:138,855,144...138,889,281
G
HDAC1
histone deacetylase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:32289289
NCBI chr 6:88,749,611...88,785,220
Ensembl chr 6:88,749,634...88,785,411
G
HFE
homeostatic iron regulator
ISO
DNA:missense mutation: :p.C282Y (rs1800562) (human)
RGD
PMID:30651232
RGD:14746965
NCBI chr 7:20,758,604...20,767,004
Ensembl chr 7:20,758,741...20,767,000
G
HGF
hepatocyte growth factor
disease_progression
ISO
protein:increased expression:serum:
RGD
PMID:24387171
RGD:8548659
NCBI chr 9:98,437,771...98,513,573
Ensembl chr 9:98,438,143...98,513,564
G
HIF1A
hypoxia inducible factor 1 subunit alpha
ISO
protein:increased expression:layer of synovial tissue, stromal cell
RGD
PMID:12823854
RGD:10395366
NCBI chr 1:190,625,436...190,673,926
Ensembl chr 1:190,625,244...190,674,845
G
HNRNPA2B1
heterogeneous nuclear ribonucleoprotein A2/B1
severity
ISO
RGD
PMID:18025202
RGD:9685481
NCBI chr18:46,205,164...46,215,861
Ensembl chr18:46,205,418...46,215,856
G
HOXD10
homeobox D10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17568789
NCBI chr15:81,911,372...81,921,164
Ensembl chr15:81,917,637...81,921,461
G
HOXD11
homeobox D11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17568789
NCBI chr15:81,906,654...81,910,765
Ensembl chr15:81,908,460...81,911,282
G
HOXD13
homeobox D13
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17568789
NCBI chr15:81,893,997...81,897,965
Ensembl chr15:81,893,972...81,896,944
G
HSD11B1
hydroxysteroid 11-beta dehydrogenase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19192274
NCBI chr 9:133,231,451...133,278,396
Ensembl chr 9:133,231,451...133,278,396
G
HSP90AA1
heat shock protein 90 alpha family class A member 1
ISO
mRNA:increased expression:peripheral blood leukocyte:
RGD
PMID:21417552
RGD:10402843
G
HSPA4
heat shock protein family A (Hsp70) member 4
ISO
protein:increased expression:peripheral blood lymphocyte (human)
RGD
PMID:22047640
RGD:5688784
NCBI chr 2:135,345,724...135,391,112
Ensembl chr 2:135,345,867...135,391,108
G
HSPA5
heat shock protein family A (Hsp70) member 5
ISO
protein:increased expression:synovial joint
RGD
PMID:11315915
RGD:5685639
NCBI chr 1:265,930,044...265,934,959
Ensembl chr 1:265,930,045...265,934,894
G
HSPA9
heat shock protein family A (Hsp70) member 9
ISO
protein:increased expression:synovial cell:
RGD
PMID:23739258
RGD:10402561
NCBI chr 2:140,515,239...140,532,164
Ensembl chr 2:140,515,253...140,531,857
G
HSPB1
heat shock protein family B (small) member 1
ISO
protein:increased expression:serum:
RGD
PMID:21417552
RGD:10402843
NCBI chr 3:10,038,074...10,039,441
Ensembl chr 3:10,037,949...10,039,704
G
HSPD1
heat shock protein family D (Hsp60) member 1
ISO
mRNA:increased expression:peripheral blood leukocyte:
RGD
PMID:21417552
RGD:10402843
NCBI chr15:101,360,355...101,373,498
Ensembl chr15:101,360,094...101,373,526
G
IFNG
interferon gamma
treatment
ISO
mRNA:increased expression:synovial (human) CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:1417133 PMID:22450443 PMID:22660635
RGD:155663483 RGD:8157623
NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,906...32,482,670
G
IGF2
insulin like growth factor 2
ISO
DNA:loss of imprinting:synovial cell protein:decreased expression:plasma
RGD
PMID:11247331 PMID:19556211
RGD:5510001 RGD:5510014
NCBI chr 2:1,469,183...1,496,417
G
IGFBP3
insulin like growth factor binding protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17379860
NCBI chr18:50,002,921...50,009,425
Ensembl chr18:50,003,022...50,010,690
G
IKZF3
IKAROS family zinc finger 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143596
NCBI chr12:22,466,386...22,562,320
Ensembl chr12:22,466,414...22,562,312
G
IL10
interleukin 10
ISO
ClinVar Annotator: match by term: RHEUMATOID ARTHRITIS, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Rheumatoid arthritis, progression of
ClinVar OMIM
PMID:12847677 PMID:25741868 PMID:28492532
NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,728...67,405,378
G
IL13
interleukin 13
ISO
protein:increased expression:serum
RGD
PMID:12051401
RGD:8549582
NCBI chr 2:134,972,099...134,976,672
Ensembl chr 2:134,972,623...134,975,093
G
IL17A
interleukin 17A
treatment
ISO
mRNA:increased expression:synovial (human)
RGD
PMID:20926833 PMID:22660635
RGD:155663483 RGD:9068415
NCBI chr 7:46,013,584...46,017,161
Ensembl chr 7:46,013,584...46,017,153
G
IL18
interleukin 18
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16368150
NCBI chr 9:39,839,959...39,861,258
Ensembl chr 9:39,834,973...39,861,219
G
IL19
interleukin 19
ISO
ClinVar Annotator: match by term: RHEUMATOID ARTHRITIS, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Rheumatoid arthritis, progression of
ClinVar
PMID:12847677 PMID:25741868 PMID:28492532
NCBI chr 9:67,469,519...67,479,597
Ensembl chr 9:67,469,524...67,479,813
G
IL1A
interleukin 1 alpha
severity
ISO
protein:increased expression:plasma, synovial fluid associated with lung disease, interstitial
RGD
PMID:8162643 PMID:11192540
RGD:4142818 RGD:7794716
NCBI chr 3:43,718,320...43,731,668
Ensembl chr 3:43,718,368...43,731,121
G
IL1RN
interleukin 1 receptor antagonist
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
RGD CTD
PMID:7706905 PMID:10637275 PMID:19192274 PMID:19447938
RGD:7174696 RGD:8549810
G
IL2
interleukin 2
ISO
RGD
PMID:6421522
RGD:8662948
NCBI chr 8:101,640,938...101,645,683
Ensembl chr 8:101,640,944...101,645,609
G
IL20
interleukin 20
ISO
RGD
PMID:16947773
RGD:5147395
NCBI chr 9:67,498,788...67,502,110
Ensembl chr 9:67,498,813...67,502,096
G
IL21R
interleukin 21 receptor
ISO
RGD
PMID:19342640
RGD:6892964
NCBI chr 3:19,447,488...19,489,201
Ensembl chr 3:19,443,359...19,489,152
G
IL23A
interleukin 23 subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19192274
NCBI chr 5:21,732,416...21,733,981
Ensembl chr 5:21,732,165...21,734,267
G
IL23R
interleukin 23 receptor
susceptibility
ISO
DNA:SNP::rs1343151(human)
RGD
PMID:18647855
RGD:8549596
NCBI chr 6:145,337,765...145,401,909
Ensembl chr 6:145,335,741...145,401,510
G
IL2RA
interleukin 2 receptor subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20453842 PMID:20476861 PMID:23143596
NCBI chr10:64,948,149...65,001,320
Ensembl chr10:64,948,563...65,001,142
G
IL2RB
interleukin 2 receptor subunit beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20453842 PMID:23143596
NCBI chr 5:10,610,094...10,650,315
Ensembl chr 5:10,628,962...10,650,314
G
IL4R
interleukin 4 receptor
severity
ISO
DNA:SNP: :rs1805010 (human)
RGD
PMID:24782180
RGD:10402783
NCBI chr 3:19,526,343...19,576,792
Ensembl chr 3:19,523,564...19,576,544
G
IL5
interleukin 5
ISO
RGD
PMID:22293286
RGD:5687156
NCBI chr 2:134,832,143...134,846,141
Ensembl chr 2:134,832,147...134,835,212
G
IL6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19192274 PMID:22450443
NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263
G
IL6R
interleukin 6 receptor
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
PMID:16729287 PMID:23143596
NCBI chr 4:95,322,426...95,381,393
Ensembl chr 4:95,322,433...95,381,282
G
IL6ST
interleukin 6 cytokine family signal transducer
ISO
CTD Direct Evidence: marker/mechanism OMIM:180300
CTD MouseDO
PMID:20453842
NCBI chr16:35,101,304...35,151,832
Ensembl chr16:35,101,306...35,192,220
G
IRAK1
interleukin 1 receptor associated kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143596
NCBI chr X:124,717,604...124,724,855
Ensembl chr X:124,717,612...124,724,860
G
IRF5
interferon regulatory factor 5
ISO
ClinVar Annotator: match by term: Rheumatoid arthritis
ClinVar
PMID:15657875 PMID:16642019 PMID:17599733 PMID:18063667
NCBI chr18:19,678,377...19,691,154
Ensembl chr18:19,678,687...19,691,243
G
IRF8
interferon regulatory factor 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143596
NCBI chr 6:3,041,617...3,060,685
Ensembl chr 6:3,041,645...3,097,406
G
ITGA6
integrin subunit alpha 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17379860
NCBI chr15:78,504,108...78,591,779
Ensembl chr15:78,504,078...78,591,777
G
ITPA
inosine triphosphatase
treatment
ISO
DNA:SNP: :94C>A(human)
RGD
PMID:29441893
RGD:14975307
NCBI chr17:32,458,351...32,474,827
Ensembl chr17:32,455,459...32,474,784
G
JAK2
Janus kinase 2
ISO
RGD
PMID:21510883
RGD:6483024
NCBI chr 1:216,849,744...217,002,310
Ensembl chr 1:216,848,689...217,002,148
G
KAT2B
lysine acetyltransferase 2B
ISO
mRNA:increased expression:peripheral blood mononuclear cell
RGD
PMID:36104638
RGD:155791669
NCBI chr13:6,985,151...7,099,771
Ensembl chr13:6,985,235...7,100,345
G
KIF5A
kinesin family member 5A
susceptibility
ISO
DNA:snps:intron, 3' utr:c.2756-43A>C, c.*776C>T (rs775246, rs775251) (human) DNA:snp:intron:c.1717-152C>G (rs1678542) (human) CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:21784728 PMID:23143596 PMID:23378462
RGD:12793072 RGD:12793073
NCBI chr 5:22,813,617...22,851,976
Ensembl chr 5:22,816,854...22,851,973
G
KMT2C
lysine methyltransferase 2C
treatment
ISO
RGD
PMID:33914205
RGD:151356764
NCBI chr18:4,993,213...5,279,668
Ensembl chr18:4,993,227...5,278,723
G
LCN2
lipocalin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7554268
NCBI chr 1:268,609,975...268,614,651
Ensembl chr 1:268,609,887...268,614,644
G
LHX2
LIM homeobox 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17568789
NCBI chr 1:264,900,931...264,920,888
Ensembl chr 1:264,900,591...264,920,890
G
LOC110258578
interleukin-1 beta-like
ISO
protein:decreased expression:serum mRNA:increased expression:synovial (human) CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:12566094 PMID:17379860 PMID:22414257 PMID:22450443 PMID:22660635
RGD:155663483 RGD:6482656
G
LRRK2
leucine rich repeat kinase 2
ISO
RGD
PMID:17082220
RGD:5508419
NCBI chr 5:71,800,337...71,945,828
Ensembl chr 5:71,800,225...71,945,828
G
LY96
lymphocyte antigen 96
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17379860
NCBI chr 4:61,919,806...61,950,712
Ensembl chr 4:61,926,064...61,950,697
G
MAB21L2
mab-21 like 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17568789
NCBI chr 8:78,385,176...78,388,008
Ensembl chr 8:78,385,764...78,386,843
G
MARCKS
myristoylated alanine rich protein kinase C substrate
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19192274
NCBI chr 1:79,789,796...79,795,895
Ensembl chr 1:79,789,815...79,795,760
G
MBD2
methyl-CpG binding domain protein 2
ISO
mRNA:increased expression:mononuclear cell
RGD
PMID:20937307
RGD:9588623
NCBI chr 1:103,683,077...103,768,372
Ensembl chr 1:103,735,192...103,752,402
G
MBD4
methyl-CpG binding domain 4, DNA glycosylase
susceptibility no_association
ISO
DNA:snps:introns:IVS5-140A>G (rs3138355), IVS6-218C>T (rs2005618) (human) DNA:snps:cds, intron:p.E346K, IVS6-218C>T (rs140693, rs2005618) (human)
RGD
PMID:20676650 PMID:22505706
RGD:9588977 RGD:9588978
NCBI chr13:68,816,677...68,828,559
Ensembl chr13:68,816,679...68,828,580
G
MDK
midkine
ISO
RGD
PMID:15146411
RGD:1581200
NCBI chr 2:16,130,787...16,133,791
Ensembl chr 2:16,130,788...16,133,510
G
MGARP
mitochondria localized glutamic acid rich protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17568789
NCBI chr 8:87,708,887...87,723,126
Ensembl chr 8:87,697,544...87,723,125
G
MIF
macrophage migration inhibitory factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16872482
NCBI chr14:49,840,303...49,841,063
Ensembl chr14:49,840,305...49,841,068
G
MIR23B
microRNA mir-23b
ISO
mRNA, protein:decreased expression:synovial (human)
RGD
PMID:22660635
RGD:155663483
NCBI chr10:27,080,197...27,080,276
Ensembl chr10:27,080,197...27,080,276
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MMEL1
membrane metalloendopeptidase like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143596
NCBI chr 6:64,436,778...64,470,888
Ensembl chr 6:64,436,642...64,472,759
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MMP1
matrix metallopeptidase 1
ISO
protein:increased expression:plasma (human)
RGD
PMID:9972954
RGD:7207129
NCBI chr 9:33,411,738...33,420,205
Ensembl chr 9:33,411,065...33,420,076
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MMP12
matrix metallopeptidase 12
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19192274
NCBI chr 9:33,473,625...33,483,630
Ensembl chr 9:33,473,093...33,483,679
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MMP14
matrix metallopeptidase 14
ISO
OMIM:180300
MouseDO
NCBI chr 7:76,174,502...76,185,931
Ensembl chr 7:76,172,971...76,185,928
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MMP2
matrix metallopeptidase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16872482
NCBI chr 6:30,059,247...30,087,031
Ensembl chr 6:30,058,595...30,086,982
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MMP3
matrix metallopeptidase 3
disease_progression
ISO
protein:increased expression:serum (human)
RGD
PMID:7639798 PMID:11796404 PMID:22314025
RGD:7207128 RGD:7241254 RGD:8693673
NCBI chr 9:33,446,969...33,453,995
Ensembl chr 9:33,446,836...33,454,000
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MMP8
matrix metallopeptidase 8
ISO
protein:increased expression:synovial fluid, serum (human)
RGD
PMID:15194590
RGD:7207131
NCBI chr 9:33,384,034...33,397,637
Ensembl chr 9:33,384,033...33,396,947
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MMP9
matrix metallopeptidase 9
ISO
RGD
PMID:16406300
RGD:1582623
NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788
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MPO
myeloperoxidase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22450443 PMID:26001728
NCBI chr12:34,557,031...34,570,091
Ensembl chr12:34,556,408...34,567,904
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MT-ND1
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1
ISO
DNA:missense mutations:cds:multiple (human)
RGD
PMID:15987486
RGD:5490238
NCBI chr MT:3,922...4,876
Ensembl chr MT:3,922...4,876
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MTHFR
methylenetetrahydrofolate reductase
ISO
CTD Direct Evidence: marker/mechanism DNA:SNP: :677C>T(human)
CTD RGD
PMID:22104130 PMID:23685257
RGD:7387222
NCBI chr 6:71,863,637...71,882,118
Ensembl chr 6:71,863,637...71,881,820
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NCF1
neutrophil cytosolic factor 1
induced
ISO
CTD Direct Evidence: marker/mechanism DNA:polymorphism:M153T (rat)
CTD RGD
PMID:12833524 PMID:21275845 PMID:28135245
RGD:41404729
NCBI chr 3:11,820,367...11,834,394
Ensembl chr 3:11,820,266...11,839,354
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NCF2
neutrophil cytosolic factor 2
ISO
CTD Direct Evidence: marker/mechanism DNA:polymorphism, SNP:cds (rs789181) (human)
CTD RGD
PMID:12833524 PMID:17897462
RGD:41404710
NCBI chr 9:124,776,516...124,813,358
Ensembl chr 9:124,776,534...124,812,923
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NCF4
neutrophil cytosolic factor 4
ISO
DNA:polymorphism, SNP:cds (rs729749) (human)
RGD
PMID:17897462
RGD:41404710
NCBI chr 5:10,876,147...10,994,002
Ensembl chr 5:10,874,953...10,994,014
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NDUFA4L2
NDUFA4 mitochondrial complex associated like 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19192274
NCBI chr 5:22,540,482...22,548,418
Ensembl chr 5:22,535,740...22,548,882
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NFKBIE
NFKB inhibitor epsilon
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22446963
NCBI chr 7:39,255,078...39,266,085
Ensembl chr 7:39,255,075...39,263,339
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NFKBIL1
NFKB inhibitor like 1
susceptibility
ISO
ClinVar Annotator: match by term: Rheumatoid arthritis
OMIM ClinVar
PMID:12509789
NCBI chr 7:23,673,002...23,685,089
Ensembl chr 7:23,673,297...23,685,088
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NOTCH4
notch receptor 4
ISO
mRNA : increased expression: : cd4+ cells
RGD
PMID:20132067
RGD:6480790
NCBI chr 7:24,231,293...24,256,281
Ensembl chr 7:24,231,293...24,256,281
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NPSR1
neuropeptide S receptor 1
ISO
RGD
PMID:20179762
RGD:4891930
NCBI chr18:38,942,499...39,212,791
Ensembl chr18:38,942,487...39,085,754
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NR3C1
nuclear receptor subfamily 3 group C member 1
ISO
mRNA:increased expression:paw
RGD
PMID:18448865
RGD:4892311
NCBI chr 2:144,822,937...144,956,451
Ensembl chr 2:144,822,939...144,956,451
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NR4A3
nuclear receptor subfamily 4 group A member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19192274
NCBI chr 1:241,569,867...241,611,735
Ensembl chr 1:241,570,010...241,611,727
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OPRM1
opioid receptor mu 1
susceptibility
ISO
DNA:missense mutation:exon:p.N40D (118A>G) (rs 1799971) (human)
RGD
PMID:31309790
RGD:401827955
NCBI chr 1:12,634,125...12,702,295
Ensembl chr 1:12,528,672...12,702,443
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PADI2
peptidyl arginine deiminase 2
ISO
ClinVar Annotator: match by term: Rheumatoid arthritis
ClinVar
NCBI chr 6:75,696,476...75,755,977
Ensembl chr 6:75,696,481...75,755,890
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PADI4
peptidyl arginine deiminase 4
ISO
ClinVar Annotator: match by term: Rheumatoid arthritis
ClinVar
NCBI chr 6:75,935,909...75,966,275
Ensembl chr 6:75,935,889...75,966,293
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PDGFB
platelet derived growth factor subunit B
ISO
RGD
PMID:1708827
RGD:6482653
Ensembl chr 5:8,986,462...9,007,435
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PGF
placental growth factor
ISO
RGD
PMID:19180491
RGD:6483591
NCBI chr 7:98,149,510...98,162,784
Ensembl chr 7:98,148,994...98,162,741
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PIK3R1
phosphoinositide-3-kinase regulatory subunit 1
ISO
mRNA:increased expression:cartilage tissue (human)
RGD
PMID:31472145
RGD:152177908
NCBI chr16:46,434,757...46,523,626
Ensembl chr16:46,511,521...46,523,609
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PLA2G7
phospholipase A2 group VII
ISO
RGD
PMID:17326817
RGD:6482776
NCBI chr 7:41,488,152...41,531,383
Ensembl chr 7:41,486,598...41,531,345
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PLAUR
plasminogen activator, urokinase receptor
ISO
RGD
PMID:22011479
RGD:6484117
NCBI chr 6:50,489,773...50,505,453
Ensembl chr 6:50,489,777...50,505,418
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PLB1
phospholipase B1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24520335
NCBI chr 3:110,605,923...110,741,236
Ensembl chr 3:110,605,923...110,741,130
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PLD4
phospholipase D family member 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22446963
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PLEK
pleckstrin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12833524
NCBI chr 3:73,877,741...73,910,163
Ensembl chr 3:73,877,743...73,906,667
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PON1
paraoxonase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16055108
NCBI chr 9:74,943,646...74,974,720
Ensembl chr 9:74,926,048...74,974,723
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POU3F1
POU class 3 homeobox 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143596
NCBI chr 6:94,025,133...94,028,053
Ensembl chr 6:94,026,675...94,028,030
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PRDM1
PR/SET domain 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19898481 PMID:20453842 PMID:23143596 PMID:36181686
NCBI chr 1:72,309,096...72,335,474
Ensembl chr 1:72,311,880...72,335,466
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PRKCQ
protein kinase C theta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18794853 PMID:20453842 PMID:23143596
NCBI chr10:64,442,588...64,596,528
Ensembl chr10:64,458,180...64,600,339
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PTGS1
prostaglandin-endoperoxide synthase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15167967
NCBI chr 1:262,456,106...262,482,159
Ensembl chr 1:262,456,155...262,483,035
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PTGS2
prostaglandin-endoperoxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:11978490 PMID:19192274 PMID:21905970
RGD:5508313
NCBI chr 9:127,850,164...127,858,866
Ensembl chr 9:127,850,015...127,858,884
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PTK2
protein tyrosine kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12833524
NCBI chr 4:2,656,606...2,896,060
Ensembl chr 4:2,656,614...2,896,054
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PTPN2
protein tyrosine phosphatase non-receptor type 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22446963
NCBI chr 6:96,769,862...96,847,136
Ensembl chr 6:96,770,253...96,847,125
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PTPN22
protein tyrosine phosphatase non-receptor type 22
susceptibility no_association
ISO
ClinVar Annotator: match by term: Rheumatoid arthritis DNA:SNP::1858C>T (human)
OMIM ClinVar RGD
PMID:21467606 PMID:25741868
RGD:7829746
NCBI chr 4:106,692,102...106,758,101
Ensembl chr 4:106,686,604...106,758,099
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PTPRC
protein tyrosine phosphatase receptor type C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20453842 PMID:23143596
NCBI chr10:21,482,984...21,601,627
Ensembl chr10:21,560,073...21,601,308
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PXK
PX domain containing serine/threonine kinase like
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20453842
NCBI chr13:40,079,238...40,160,387
Ensembl chr13:40,074,466...40,160,380
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RAB8A
RAB8A, member RAS oncogene family
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12833524
NCBI chr 2:61,430,680...61,450,351
Ensembl chr 2:61,429,523...61,450,413
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RAP2A
RAP2A, member of RAS oncogene family
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12833524
NCBI chr11:66,679,162...66,718,565
Ensembl chr11:66,679,253...66,720,045
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RASGRP1
RAS guanyl releasing protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143596
NCBI chr 1:132,702,495...132,786,536
Ensembl chr 1:132,702,541...132,786,532
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RBPJ
recombination signal binding protein for immunoglobulin kappa J region
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20453842 PMID:23143596
NCBI chr 8:19,933,035...20,166,746
Ensembl chr 8:19,922,779...20,166,754
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RCAN1
regulator of calcineurin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143596
NCBI chr13:198,106,256...198,205,727
Ensembl chr13:198,102,098...198,205,629
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REL
REL proto-oncogene, NF-kB subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19503088 PMID:20453842 PMID:23143596
NCBI chr 3:80,861,862...80,912,233
Ensembl chr 3:80,872,255...80,911,939
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RGMB
repulsive guidance molecule BMP co-receptor b
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17568789
NCBI chr 2:105,042,479...105,070,428
Ensembl chr 2:105,042,532...105,070,409
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RUNX1
RUNX family transcription factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143596
NCBI chr13:198,371,835...198,635,648
Ensembl chr13:198,371,837...198,638,189
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RUNX2
RUNX family transcription factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20008919
NCBI chr 7:40,106,581...40,353,304
Ensembl chr 7:40,106,532...40,460,687
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SEMA3C
semaphorin 3C
ISO
protein:increased expression:knee, synovium (human)
RGD
PMID:15077297
RGD:1580084
NCBI chr 9:99,114,649...99,432,683
Ensembl chr 9:99,251,715...99,433,224
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SLA-DQA1
MHC class II histocompatibility antigen SLA-DQA
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17568789
NCBI chr 7:24,953,472...24,959,313
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SLC11A1
solute carrier family 11 member 1
severity
ISO
CTD Direct Evidence: marker/mechanism DNA:polymorphisms, deletion: :823C>T, p.D543N (human) DNA:polymorphism:promoter (human)
CTD RGD
PMID:10719815 PMID:12135431 PMID:16597321
RGD:5684967 RGD:5684971
NCBI chr15:120,434,100...120,446,396
Ensembl chr15:120,433,952...120,446,396
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SLC22A4
solute carrier family 22 member 4
susceptibility
ISO
ClinVar Annotator: match by term: Rheumatoid arthritis | ClinVar Annotator: match by term: SLC22A4-related condition
OMIM ClinVar
PMID:14608356 PMID:19881261 PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr 2:134,594,843...134,641,403
Ensembl chr 2:134,595,584...134,639,777
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SLC25A12
solute carrier family 25 member 12
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12833524
NCBI chr15:77,895,935...78,021,930
Ensembl chr15:77,895,938...78,098,383
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SMS
spermine synthase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19192274
NCBI chr X:18,118,332...18,169,396
Ensembl chr X:18,118,256...18,169,390
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SOD2
superoxide dismutase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12833524 PMID:15292528 PMID:24313545
NCBI chr 1:7,679,352...7,689,564
Ensembl chr 1:7,679,352...7,689,560
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SPP1
secreted phosphoprotein 1
ISO
RGD
PMID:15761492
RGD:1581382
NCBI chr 8:131,077,786...131,085,334
Ensembl chr 8:131,077,786...131,085,340
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SPRED2
sprouty related EVH1 domain containing 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20453842 PMID:23143596
NCBI chr 3:76,527,646...76,649,652
Ensembl chr 3:76,523,589...76,649,651
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ST6GALNAC5
ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17379860 PMID:17568789
NCBI chr 6:136,207,838...136,391,083
Ensembl chr 6:136,204,374...136,390,995
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STAT1
signal transducer and activator of transcription 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12833524
NCBI chr15:95,593,201...95,646,324
Ensembl chr15:95,593,211...95,646,260
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STAT3
signal transducer and activator of transcription 3
ISO
associated with T-cell large granular lymphocyte leukemia
RGD
PMID:22591296
RGD:6892936
NCBI chr12:20,407,316...20,471,091
Ensembl chr12:20,407,233...20,472,992
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STAT4
signal transducer and activator of transcription 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20453842 PMID:23143596
NCBI chr15:95,656,206...95,764,099
Ensembl chr15:95,656,077...95,763,472
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STS
steroid sulfatase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19192274
NCBI chr X:3,926,027...4,076,900 NCBI chr Y:2,747,102...2,828,322
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SUPT20H
SPT20 homolog, SAGA complex component
ISO
ClinVar Annotator: match by term: Rheumatoid arthritis
ClinVar
NCBI chr11:12,825,758...12,864,935
Ensembl chr11:12,825,762...12,864,929
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TAB2
TGF-beta activated kinase 1 (MAP3K7) binding protein 2
ISO
mRNA, protein:increased expression:synovial (human)
RGD
PMID:22660635
RGD:155663483
NCBI chr 1:16,533,364...16,611,879
Ensembl chr 1:16,533,285...16,611,884
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TAB3
TGF-beta activated kinase 1 (MAP3K7) binding protein 3
ISO
mRNA, protein:increased expression:synovial (human)
RGD
PMID:22660635
RGD:155663483
NCBI chr X:26,632,547...26,729,039
Ensembl chr X:26,632,551...26,729,051
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TAGAP
T cell activation RhoGTPase activating protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20453842 PMID:23143596
NCBI chr 1:8,209,298...8,217,993
Ensembl chr 1:8,209,314...8,219,630
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TAP2
transporter 2, ATP binding cassette subfamily B member
ISO
RGD
PMID:9645419
RGD:6482275
NCBI chr 7:25,045,085...25,056,915
Ensembl chr 7:25,043,840...25,056,922
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TFPI2
tissue factor pathway inhibitor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15292528 PMID:17379860
NCBI chr 9:73,684,236...73,694,663
Ensembl chr 9:73,673,535...73,689,095
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THBD
thrombomodulin
ISO
RGD
PMID:15700117
RGD:5685020
NCBI chr17:30,219,870...30,223,499
Ensembl chr17:30,217,303...30,224,099
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TLE3
TLE family member 3, transcriptional corepressor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143596
NCBI chr 1:167,808,508...167,855,913
Ensembl chr 1:167,808,510...167,855,911
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TLR1
toll like receptor 1
ISO
ClinVar Annotator: match by term: Rheumatoid arthritis
ClinVar
PMID:32594150
NCBI chr 8:30,147,600...30,155,454
Ensembl chr 8:30,147,624...30,155,466
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TLR2
toll like receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19192274
NCBI chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,993...75,428,330
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TMPO
thymopoietin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12833524
NCBI chr 5:85,317,648...85,346,528
Ensembl chr 5:85,315,290...85,346,538
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TNF
tumor necrosis factor
treatment no_association
ISO
mRNA:increased expression:synovial (human) OMIM:180300 CTD Direct Evidence: marker/mechanism|therapeutic DNA:SNP:promoter:-238G>A, -308G>A (human) DNA:SNP:promoter:-857C>T (human)
RGD MouseDO CTD
PMID:2001072 PMID:8391952 PMID:12563673 PMID:12566094 PMID:22450443 PMID:22660635 PMID:25311255 PMID:34459104 More...
RGD:10450537 RGD:12904065 RGD:155663483
NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,415
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TNFAIP2
TNF alpha induced protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19192274
G
TNFAIP3
TNF alpha induced protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18794853 PMID:20453842 PMID:21841782 PMID:23143596 PMID:30224649
NCBI chr 1:26,474,158...26,489,771
Ensembl chr 1:26,473,938...26,489,822
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TNFRSF11B
TNF receptor superfamily member 11b
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:23333834
NCBI chr 4:19,850,212...19,879,132
Ensembl chr 4:19,850,350...19,879,125
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TNFRSF1A
TNF receptor superfamily member 1A
treatment
ISO
DNA:SNP:promoter:36G>A (human)
RGD
PMID:25311255
RGD:12904065
NCBI chr 5:64,319,349...64,331,876
Ensembl chr 5:64,319,051...64,331,909
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TNFSF14
TNF superfamily member 14
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20008919
NCBI chr 2:72,478,178...72,483,885
Ensembl chr 2:72,473,477...72,483,989
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TRAF1
TNF receptor associated factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18794853 PMID:23143596
NCBI chr 1:260,948,191...260,973,978
Ensembl chr 1:260,949,111...260,973,709
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TRAF6
TNF receptor associated factor 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20453842 PMID:23143596
NCBI chr 2:24,602,749...24,628,263
Ensembl chr 2:24,602,804...24,626,072
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TREM1
triggering receptor expressed on myeloid cells 1
treatment
ISO
RGD
PMID:27049384
RGD:127229930
NCBI chr 7:36,510,253...36,531,796
Ensembl chr 7:36,510,253...36,531,796
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TXNDC5
thioredoxin domain containing 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23326410
NCBI chr 7:5,210,192...5,236,857
Ensembl chr 7:5,210,064...5,236,812
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TXNIP
thioredoxin interacting protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19192274
NCBI chr 4:99,348,589...99,351,760
Ensembl chr 4:99,348,490...99,352,755
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TYK2
tyrosine kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143596 PMID:30224649
NCBI chr 2:69,157,774...69,183,555
Ensembl chr 2:69,157,811...69,183,456
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TYMS
thymidylate synthetase
treatment
ISO
DNA:polymorphism: :
RGD
PMID:22763757
RGD:11075093
NCBI chr 6:105,642,730...105,660,279
Ensembl chr 6:105,642,381...105,660,578
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TYROBP
transmembrane immune signaling adaptor TYROBP
treatment
ISO
RGD
PMID:27049384
RGD:127229930
NCBI chr 6:45,309,199...45,312,562
Ensembl chr 6:45,309,201...45,312,539
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VDR
vitamin D receptor
no_association
ISO
DNA:SNP:exon:rs2228570 (human) DNA:SNP: :rs1544410 (human)
RGD
PMID:21820934
RGD:8158077
NCBI chr 5:78,205,807...78,266,505
Ensembl chr 5:78,205,810...78,266,475
G
VEGFA
vascular endothelial growth factor A
disease_progression
ISO
CTD Direct Evidence: marker/mechanism protein:increased expression:serum:
CTD RGD
PMID:16368150 PMID:24387171
RGD:8548659
NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,366
G
VIM
vimentin
ISO
RGD
PMID:21792832
RGD:6480508
NCBI chr10:43,516,441...43,526,172
Ensembl chr10:43,517,307...43,526,170
G
ZAP70
zeta chain of T cell receptor associated protein kinase 70
ISO
OMIM:180300
MouseDO
NCBI chr 3:56,515,446...56,541,806
Ensembl chr 3:56,515,449...56,541,740
G
ZFP36
ZFP36 ring finger protein
ISO
OMIM:180300
MouseDO
NCBI chr 6:48,063,732...48,066,235
Ensembl chr 6:48,063,677...48,066,250
G
HGF
hepatocyte growth factor
ISO
protein:increased expression:serum:
RGD
PMID:24387171
RGD:8548659
NCBI chr 9:98,437,771...98,513,573
Ensembl chr 9:98,438,143...98,513,564
G
VEGFA
vascular endothelial growth factor A
ISO
protein:increased expression:serum:
RGD
PMID:24387171
RGD:8548659
NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,366
G
ACP3
acid phosphatase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr13:73,471,837...73,530,778
Ensembl chr13:73,471,889...73,530,011
G
ACRBP
acrosin binding protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 5:64,036,810...64,047,846
Ensembl chr 5:64,037,095...64,047,847
G
ADCY7
adenylate cyclase 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 6:34,521,503...34,586,384
Ensembl chr 6:34,519,180...34,585,779
G
ALOX12
arachidonate 12-lipoxygenase, 12S type
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr12:52,401,861...52,414,913
Ensembl chr12:52,401,810...52,414,903
G
ANKRD9
ankyrin repeat domain 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
G
AOPEP
aminopeptidase O (putative)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr10:27,078,115...27,472,347
Ensembl chr10:27,078,113...27,472,310
G
AQP9
aquaporin 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 1:113,798,380...113,848,452
Ensembl chr 1:113,794,040...113,848,683
G
AREG
amphiregulin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 8:70,417,935...70,428,106
Ensembl chr 8:70,417,923...70,428,102
G
ASAP1
ArfGAP with SH3 domain, ankyrin repeat and PH domain 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 4:10,103,860...10,451,928
Ensembl chr 4:10,179,758...10,451,929
G
AVL9
AVL9 cell migration associated
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr18:40,663,728...40,739,115
Ensembl chr18:40,663,730...40,739,080
G
B4GALT5
beta-1,4-galactosyltransferase 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr17:51,257,273...51,334,566
Ensembl chr17:51,259,813...51,334,020
G
BEND2
BEN domain containing 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr X:14,635,795...14,703,934
G
BLTP3B
bridge-like lipid transfer protein family member 3B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 5:83,935,628...84,041,753
Ensembl chr 5:83,935,703...84,042,202
G
BTG1
BTG anti-proliferation factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 5:90,815,194...90,817,936
Ensembl chr 5:90,815,202...90,817,142
G
BTG3
BTG anti-proliferation factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr13:182,209,850...182,228,626
Ensembl chr13:182,208,958...182,227,971
G
C15H2orf88
chromosome 15 C2orf88 homolog
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr15:94,628,283...94,794,114
Ensembl chr15:94,478,021...94,791,775
G
C8B
complement C8 beta chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7980680
NCBI chr 6:155,411,982...155,453,034
Ensembl chr 6:155,387,145...155,453,438
G
C9orf72
C9orf72-SMCR8 complex subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr10:38,389,366...38,415,903
Ensembl chr10:38,389,331...38,415,901
G
CALD1
caldesmon 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr18:14,267,955...14,486,641
Ensembl chr18:14,267,959...14,486,726
G
CAMSAP1
calmodulin regulated spectrin associated protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
G
CCDC122
coiled-coil domain containing 122
ISO
ClinVar Annotator: match by term: JUVENILE ARTHRITIS
ClinVar
PMID:25741868
NCBI chr11:23,159,655...23,199,074
Ensembl chr11:23,159,470...23,198,885
G
CCR5
C-C motif chemokine receptor 5
no_association
ISO
DNA:frameshift mutation:cds:p.S185_T195del rs333 (human) DNA:polymorphisms: :multiple (human)
RGD
PMID:16775617 PMID:17565662
RGD:1626283 RGD:1626284
NCBI chr13:29,382,383...29,387,902
Ensembl chr13:29,383,303...29,387,895
G
CD14
CD14 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 2:142,348,036...142,349,686
Ensembl chr 2:142,346,360...142,349,581
G
CD83
CD83 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 7:10,346,122...10,385,968
Ensembl chr 7:10,359,211...10,385,961
G
CD8B
CD8 subunit beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 3:57,968,358...57,986,450
Ensembl chr 3:57,968,383...57,986,441
G
CIITA
class II major histocompatibility complex transactivator
no_association susceptibility
ISO
DNA:polymorphism:promoter:rs3087456, no association in a German cohort DNA:polymorphism:exon:1614G>C (human)
RGD
PMID:16426246 PMID:17661914
RGD:5491187 RGD:5491189
NCBI chr 3:32,171,706...32,230,775
Ensembl chr 3:32,172,214...32,230,780
G
CLU
clusterin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr14:11,336,585...11,352,569
Ensembl chr14:11,336,595...11,349,764
G
CMTM2
CKLF like MARVEL transmembrane domain containing 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 6:27,281,809...27,295,429
Ensembl chr 6:27,282,070...27,295,522
G
CREM
cAMP responsive element modulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr10:57,829,523...57,895,610
Ensembl chr10:57,829,518...57,895,610
G
CRP
C-reactive protein, pentraxin-related
ISO
protein:increased expression:serum
RGD
PMID:22885951
RGD:6906884
NCBI chr 4:90,793,361...90,801,020
Ensembl chr 4:90,793,350...90,805,218
G
CTLA4
cytotoxic T-lymphocyte associated protein 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr15:107,283,081...107,288,041
Ensembl chr15:107,282,927...107,289,103
G
CTTN
cortactin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 2:3,031,103...3,060,796
Ensembl chr 2:3,031,103...3,060,813
G
CXCR2
C-X-C motif chemokine receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr15:120,219,657...120,230,203
G
CXCR4
C-X-C motif chemokine receptor 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504 PMID:26387944
NCBI chr15:15,663,652...15,666,706
Ensembl chr15:15,663,494...15,667,232
G
DAPK1
death associated protein kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr10:27,724,644...27,954,708
Ensembl chr10:27,724,648...27,954,350
G
DDIT3
DNA damage inducible transcript 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 5:22,785,441...22,789,867
Ensembl chr 5:22,785,445...22,789,829
G
DUSP1
dual specificity phosphatase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr16:51,457,924...51,461,095
Ensembl chr16:51,458,020...51,461,086
G
DUSP2
dual specificity phosphatase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 3:47,052,443...47,054,816
Ensembl chr 3:47,052,458...47,054,810
G
DUSP4
dual specificity phosphatase 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr15:55,491,084...55,508,460
Ensembl chr15:55,491,087...55,508,455
G
DYSF
dysferlin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 3:71,020,143...71,237,658
Ensembl chr 3:71,020,144...71,246,967
G
EGF
epidermal growth factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 8:112,235,607...112,330,062
Ensembl chr 8:112,234,386...112,330,046
G
EGR1
early growth response 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 2:140,440,829...140,445,302
Ensembl chr 2:140,441,421...140,445,296
G
ELF2
E74 like ETS transcription factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 8:87,774,594...87,878,847
Ensembl chr 8:87,854,699...87,878,662
G
ETNK1
ethanolamine kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 5:50,914,808...50,970,748
Ensembl chr 5:50,914,814...50,970,697
G
ETV6
ETS variant transcription factor 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 5:60,523,530...60,776,792
Ensembl chr 5:60,523,433...60,776,750
G
FAM20A
FAM20A golgi associated secretory pathway pseudokinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr12:11,606,469...11,663,086
Ensembl chr12:11,607,034...11,657,737
G
FAXDC2
fatty acid hydroxylase domain containing 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr16:68,359,243...68,389,968
Ensembl chr16:68,359,307...68,389,965
G
FCGR1A
Fc fragment of IgG, high affinity Ia, receptor (CD64)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 4:99,233,632...99,242,531
Ensembl chr 4:99,233,611...99,242,586
G
FCHSD2
FCH and double SH3 domains 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 9:7,366,516...7,619,960
Ensembl chr 9:7,366,523...7,608,469
G
FOS
Fos proto-oncogene, AP-1 transcription factor subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 7:98,449,508...98,451,971
Ensembl chr 7:98,449,349...98,455,554
G
FOSB
FosB proto-oncogene, AP-1 transcription factor subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 6:51,836,780...51,844,531
Ensembl chr 6:51,837,719...51,844,529
G
FOSL2
FOS like 2, AP-1 transcription factor subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 3:110,820,403...110,842,903
Ensembl chr 3:110,823,666...110,843,068
G
FOXP1
forkhead box P1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr13:52,346,844...52,974,358
Ensembl chr13:52,348,234...52,876,892
G
GADD45A
growth arrest and DNA damage inducible alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 6:144,940,702...144,944,089
Ensembl chr 6:144,940,697...144,944,089
G
GMPR
guanosine monophosphate reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 7:12,254,393...12,298,802
Ensembl chr 7:12,254,388...12,299,531
G
GNG11
G protein subunit gamma 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 9:73,721,327...73,726,229
Ensembl chr 9:73,721,322...73,726,222
G
GP1BB
glycoprotein Ib platelet subunit beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr14:51,261,097...51,261,903
Ensembl chr14:51,260,963...51,262,114
G
H2AC4
H2A clustered histone 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 7:20,729,940...20,730,466
Ensembl chr 7:20,729,997...20,730,389
G
HBEGF
heparin binding EGF like growth factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 2:142,102,455...142,115,192
Ensembl chr 2:142,102,458...142,115,174
G
HERPUD2
HERPUD family member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr18:38,284,520...38,326,323
Ensembl chr18:38,284,520...38,326,311
G
HFE
homeostatic iron regulator
ISO
DNA:missense mutation:cds:p.C282Y (human)
RGD
PMID:16047841
RGD:8694357
NCBI chr 7:20,758,604...20,767,004
Ensembl chr 7:20,758,741...20,767,000
G
HSPA6
heat shock protein family A (Hsp70) member 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 4:88,970,592...88,973,109
Ensembl chr 4:88,970,599...88,973,918
G
HSPD1
heat shock protein family D (Hsp60) member 1
ISO
protein:increased expression:serum,synovial fluid:
RGD
PMID:8255671
RGD:12910480
NCBI chr15:101,360,355...101,373,498
Ensembl chr15:101,360,094...101,373,526
G
IGF1R
insulin like growth factor 1 receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 1:137,383,623...137,691,038
Ensembl chr 1:137,387,825...137,691,058
G
IL1A
interleukin 1 alpha
ISO
DNA:SNP:promoter:-889C>T (human)
RGD
PMID:8162643
RGD:7794716
NCBI chr 3:43,718,320...43,731,668
Ensembl chr 3:43,718,368...43,731,121
G
IL1RN
interleukin 1 receptor antagonist
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
G
IL2
interleukin 2
ISO
protein:increased expression:mononuclear cell
RGD
PMID:21859687
RGD:5147870
NCBI chr 8:101,640,938...101,645,683
Ensembl chr 8:101,640,944...101,645,609
G
IL6
interleukin 6
ISO
protein:increased expression:serum:
RGD
PMID:9489833
RGD:7829742
NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263
G
ITGA2B
integrin subunit alpha 2b
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr12:18,860,739...18,877,381
Ensembl chr12:18,860,739...18,877,381
G
ITGB5
integrin subunit beta 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr13:135,468,111...135,587,483
Ensembl chr13:135,467,798...135,587,473
G
JMJD1C
jumonji domain containing 1C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr14:66,640,845...66,966,911
Ensembl chr14:66,640,849...66,920,324
G
JUN
Jun proto-oncogene, AP-1 transcription factor subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 6:153,686,425...153,687,635
Ensembl chr 6:153,685,682...153,687,636
G
KAT6B
lysine acetyltransferase 6B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr14:77,390,790...77,597,674
Ensembl chr14:77,404,136...77,597,673
G
KCNJ15
potassium inwardly rectifying channel subfamily J member 15
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr13:201,894,036...201,941,449
Ensembl chr13:201,894,420...201,939,789
G
KLF4
KLF transcription factor 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 1:248,604,817...248,609,574
Ensembl chr 1:248,604,820...248,609,035
G
KRAS
KRAS proto-oncogene, GTPase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 5:48,508,774...48,546,260
Ensembl chr 5:48,508,811...48,549,358
G
LACC1
laccase domain containing 1
ISO
ClinVar Annotator: match by term: JUVENILE ARTHRITIS
OMIM ClinVar
PMID:25147203 PMID:25220867 PMID:25741868 PMID:27881174 PMID:29717096 PMID:31811059 More...
NCBI chr11:23,143,708...23,159,790
Ensembl chr11:23,141,425...23,159,547
G
LOC102160336
ubiquitin-conjugating enzyme E2 E1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr13:10,605,837...10,683,819
Ensembl chr13:10,605,503...10,683,816
G
LPP
LIM domain containing preferred translocation partner in lipoma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr13:125,782,373...126,478,927
Ensembl chr13:125,782,471...126,463,303
G
MAD1L1
mitotic arrest deficient 1 like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 3:1,236,066...1,559,346
Ensembl chr 3:1,236,076...1,559,041
G
MAFF
MAF bZIP transcription factor F
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 5:9,683,651...9,696,128
Ensembl chr 5:9,683,660...9,696,023
G
MAML2
mastermind like transcriptional coactivator 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 9:27,993,319...28,372,982
Ensembl chr 9:27,997,887...28,371,397
G
MAP2
microtubule associated protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr15:112,156,578...112,462,932
Ensembl chr15:112,236,119...112,462,929
G
MAPK1
mitogen-activated protein kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr14:50,083,079...50,165,528
Ensembl chr14:50,082,896...50,165,513
G
MBL2
mannose binding lectin 2
ISO
RGD
PMID:18334024
RGD:12910845
NCBI chr14:97,103,926...97,107,635
Ensembl chr14:97,102,823...97,108,083
G
MEX3C
mex-3 RNA binding family member C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 1:100,678,452...100,699,277
Ensembl chr 1:100,676,660...100,699,403
G
MS4A4A
membrane spanning 4-domains A4A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 2:11,226,146...11,368,033
G
MSN
moesin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr X:51,844,197...51,967,674
Ensembl chr X:51,844,156...51,970,107
G
MTSS1
MTSS I-BAR domain containing 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 4:14,933,290...15,103,256
Ensembl chr 4:14,933,331...15,103,253
G
MYZAP
myocardial zonula adherens protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 1:114,287,622...114,386,418
Ensembl chr 1:114,287,627...114,386,427
G
NDEL1
nudE neurodevelopment protein 1 like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr12:53,553,897...53,640,470
Ensembl chr12:53,557,175...53,640,457
G
NR4A2
nuclear receptor subfamily 4 group A member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr15:63,487,051...63,506,249
Ensembl chr15:63,487,731...63,495,299
G
NR4A3
nuclear receptor subfamily 4 group A member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 1:241,569,867...241,611,735
Ensembl chr 1:241,570,010...241,611,727
G
NRG1
neuregulin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr15:52,625,550...53,688,003
Ensembl chr15:52,630,679...52,839,505
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OLR1
oxidized low density lipoprotein receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 5:61,799,356...61,809,691
Ensembl chr 5:61,799,286...61,810,624
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OSM
oncostatin M
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr14:47,242,767...47,246,836
Ensembl chr14:47,242,774...47,246,838
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PACSIN2
protein kinase C and casein kinase substrate in neurons 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 5:5,853,377...5,985,174
Ensembl chr 5:5,853,377...5,985,169
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PCYT1B
phosphate cytidylyltransferase 1B, choline
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr X:20,605,769...20,743,081
Ensembl chr X:20,605,945...20,743,134
G
PER1
period circadian regulator 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr12:53,361,863...53,376,723
Ensembl chr12:53,361,889...53,374,248
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PGM5
phosphoglucomutase 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 1:221,634,516...221,837,764
Ensembl chr 1:221,634,524...221,836,459
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PLAUR
plasminogen activator, urokinase receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 6:50,489,773...50,505,453
Ensembl chr 6:50,489,777...50,505,418
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PLK2
polo like kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr16:37,299,116...37,305,114
Ensembl chr16:37,299,119...37,305,114
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PLOD2
procollagen-lysine,2-oxoglutarate 5-dioxygenase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr13:86,402,673...86,513,167
Ensembl chr13:86,401,244...86,513,105
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PROS1
protein S
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr13:165,915,298...165,999,118
Ensembl chr13:165,911,366...165,999,811
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PTPN22
protein tyrosine phosphatase non-receptor type 22
ISO
DNA: snp : cds : rs2476601
RGD
PMID:15934099
RGD:6484550
NCBI chr 4:106,692,102...106,758,101
Ensembl chr 4:106,686,604...106,758,099
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R3HDM2
R3H domain containing 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 5:22,558,645...22,714,250
Ensembl chr 5:22,549,010...22,719,054
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RASGEF1B
RasGEF domain family member 1B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 8:135,896,022...136,595,051
Ensembl chr 8:136,568,711...136,595,049
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RBM47
RNA binding motif protein 47
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 8:31,508,133...31,690,757
Ensembl chr 8:31,508,148...31,690,409
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RERE
arginine-glutamic acid dipeptide repeats
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 6:68,954,766...69,258,855
G
RHOBTB1
Rho related BTB domain containing 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr14:64,326,461...64,465,331
Ensembl chr14:64,326,461...64,465,281
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RNF103
ring finger protein 103
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 3:58,161,087...58,183,750
Ensembl chr 3:58,161,261...58,186,858
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SELP
selectin P
severity
ISO
protein:increased expression:plasma
RGD
PMID:21124648
RGD:6219006
NCBI chr 4:81,376,804...81,401,240
Ensembl chr 4:81,365,740...81,399,955
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SH2D2A
SH2 domain containing 2A
ISO
DNA:polymorphism:promoter
RGD
PMID:15129233
RGD:2298870
NCBI chr 4:93,282,383...93,293,214
Ensembl chr 4:93,282,413...93,293,205
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SH3BGRL2
SH3 domain binding glutamate rich protein like 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 1:86,416,281...86,481,805
Ensembl chr 1:86,358,483...86,481,776
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SIK1
salt inducible kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr13:206,454,695...206,465,802
Ensembl chr13:206,454,718...206,465,807
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SIPA1L1
signal induced proliferation associated 1 like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 7:94,789,794...95,168,728
Ensembl chr 7:95,022,924...95,167,107
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SLC11A1
solute carrier family 11 member 1
ISO
DNA:repeat:promoter (human) CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:10857800 PMID:16597321
RGD:5684977
NCBI chr15:120,434,100...120,446,396
Ensembl chr15:120,433,952...120,446,396
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SLC22A16
solute carrier family 22 member 16
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 1:76,423,386...76,468,267
Ensembl chr 1:76,423,355...76,467,575
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SLC26A2
solute carrier family 26 member 2
susceptibility
ISO
DNA:SNPs: :
RGD
PMID:17393463
RGD:13208931
NCBI chr 2:150,996,868...151,027,483
Ensembl chr 2:150,996,686...151,022,148
G
SLC2A3
solute carrier family 2 member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 5:62,963,635...63,041,955
G
SMAD3
SMAD family member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 1:164,998,457...165,124,455
Ensembl chr 1:164,998,103...165,124,449
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STAB1
stabilin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr13:34,630,448...34,659,371
Ensembl chr13:34,636,083...34,659,219
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STAT3
signal transducer and activator of transcription 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr12:20,407,316...20,471,091
Ensembl chr12:20,407,233...20,472,992
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STIM1
stromal interaction molecule 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 9:6,066,612...6,270,090
Ensembl chr 9:6,066,617...6,270,575
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TCF7L2
transcription factor 7 like 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr14:123,343,695...123,547,332
Ensembl chr14:123,343,412...123,546,417
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TFDP1
transcription factor Dp-1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr11:78,755,472...78,778,312
Ensembl chr11:78,755,533...78,778,309
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TFPI
tissue factor pathway inhibitor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr15:92,345,083...92,409,962
Ensembl chr15:92,345,075...92,409,905
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THBD
thrombomodulin
ISO
protein:increased expression:serum
RGD
PMID:15209962
RGD:5685023
NCBI chr17:30,219,870...30,223,499
Ensembl chr17:30,217,303...30,224,099
G
THBS1
thrombospondin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 1:131,728,781...131,746,098
Ensembl chr 1:131,728,784...131,746,115
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TNFAIP6
TNF alpha induced protein 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr15:862,013...881,352
Ensembl chr15:862,015...881,461
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TNFAIP8
TNF alpha induced protein 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 2:123,152,349...123,285,154
Ensembl chr 2:123,152,371...123,287,941
G
TNIK
TRAF2 and NCK interacting kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr13:109,642,848...110,052,345
Ensembl chr13:109,643,895...110,052,236
G
TREML1
triggering receptor expressed on myeloid cells like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 7:36,455,628...36,460,711
Ensembl chr 7:36,455,634...36,460,715
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TTLL5
tubulin tyrosine ligase like 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 7:98,822,338...99,090,076
Ensembl chr 7:98,823,871...99,130,915
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UBE3C
ubiquitin protein ligase E3C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr18:1,542,454...1,654,274
Ensembl chr18:1,542,163...1,653,982
G
WASF3
WASP family member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr11:4,261,121...4,366,258
Ensembl chr11:4,261,177...4,366,253
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WWOX
WW domain containing oxidoreductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 6:8,910,209...9,871,048
Ensembl chr 6:8,910,138...9,871,053
G
ZFAND3
zinc finger AN1-type containing 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 7:33,378,229...33,718,034
Ensembl chr 7:33,378,286...33,718,030
G
ZFC3H1
zinc finger C3H1-type containing
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 5:35,617,257...35,671,191
Ensembl chr 5:35,617,266...35,671,149
G
AIRE
autoimmune regulator
ISO
OMIM:270150
MouseDO
NCBI chr13:207,148,401...207,158,355
Ensembl chr13:207,148,401...207,158,346
G
APOE
apolipoprotein E
onset
ISO
DNA:polymorphism:exon:
RGD
PMID:15328426
RGD:7495765
NCBI chr 6:51,373,113...51,375,333
Ensembl chr 6:51,372,292...51,375,330
G
BDNF
brain derived neurotrophic factor
severity
ISO
protein:increased expression:serum:
RGD
PMID:18830907
RGD:8657019
NCBI chr 2:32,623,668...32,679,293
Ensembl chr 2:32,624,048...32,679,765
G
BST2
bone marrow stromal cell antigen 2
ISO
mRNA, protein:increased expression: labial gland, CD19+ B cell, CD4-CD8-CD19-monocyte:
RGD
PMID:30249485
RGD:14398821
NCBI chr 2:60,305,306...60,308,295
Ensembl chr 2:60,305,283...60,309,697
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C3
complement C3
ISO
RGD
PMID:17675493
RGD:7401265
NCBI chr 2:72,431,470...72,471,622
Ensembl chr 2:72,431,212...72,472,228
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CA1
carbonic anhydrase 1
ISO
RGD
PMID:12806141
RGD:408425977
NCBI chr 4:51,343,548...51,353,127
Ensembl chr 4:51,302,406...51,353,126
G
CA2
carbonic anhydrase 2
ISO
RGD
PMID:12806141 PMID:15831920
RGD:408425973 RGD:408425977
NCBI chr 4:51,194,686...51,211,436
Ensembl chr 4:51,193,756...51,211,259
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CAST
calpastatin
ISO
associated with Lupus Erythematosus, Systemic
RGD
PMID:15540513
RGD:5683622
NCBI chr 2:103,255,738...103,378,623
Ensembl chr 2:103,255,750...103,378,623
G
CCR5
C-C motif chemokine receptor 5
no_association
ISO
DNA:frameshift mutation: :p.S185_T195del (rs333) (human)
RGD
PMID:12412204 PMID:23773920
RGD:8551796 RGD:8551818
NCBI chr13:29,382,383...29,387,902
Ensembl chr13:29,383,303...29,387,895
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CCR7
C-C motif chemokine receptor 7
ISO
OMIM:270150
MouseDO
NCBI chr12:21,857,286...21,869,211
Ensembl chr12:21,857,286...21,872,475
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CD40LG
CD40 ligand
ISO
protein:increased expression:salivary ductal epithelium (human)
RGD
PMID:12472667
RGD:11520791
NCBI chr X:111,778,666...111,788,901
Ensembl chr X:111,778,493...111,789,709
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CRP
C-reactive protein, pentraxin-related
ISO
associated with Arthritis, Rheumatoid;protein:increased expression:serum:
RGD
PMID:2353152 PMID:16013223
RGD:9491774 RGD:9491835
NCBI chr 4:90,793,361...90,801,020
Ensembl chr 4:90,793,350...90,805,218
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CTLA4
cytotoxic T-lymphocyte associated protein 4
susceptibility
ISO
DNA:SNPs,haplotype: :+49A/G (rs231775),(rs3087243)(human) mRNA:increased expression:salivary gland:
RGD
PMID:12528117 PMID:16869018
RGD:7421506 RGD:7421519
NCBI chr15:107,283,081...107,288,041
Ensembl chr15:107,282,927...107,289,103
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CYP19A2
cytochrome P450 19A2
ISO
OMIM:270150
MouseDO
NCBI chr 1:120,652,172...120,695,899
Ensembl chr 1:120,367,667...120,695,899
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CYP1A1
cytochrome P450 family 1 subfamily A member 1
ISO
associated with Arthritis, Rheumatoid;DNA:polymorphism: :4889A>G (human)
RGD
PMID:12590982
RGD:5147747
NCBI chr 7:58,802,887...58,809,155
Ensembl chr 7:58,802,887...58,809,775
G
DGKQ
diacylglycerol kinase theta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24097067
NCBI chr 8:313,325...325,089
Ensembl chr 8:313,329...325,095
G
E2F1
E2F transcription factor 1
ISO
OMIM:270150
MouseDO
NCBI chr17:37,178,587...37,190,118
Ensembl chr17:37,178,599...37,189,883
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FAS
Fas cell surface death receptor
ISO
protein:decreased expression:lacrimal gland, lymphocyte (mouse) OMIM:270150 protein:increased expression:serum (human)
RGD MouseDO
PMID:9870874 PMID:9890678 PMID:11157873
RGD:8662410 RGD:8662436 RGD:8662451
NCBI chr14:100,927,305...100,954,781
Ensembl chr14:100,927,089...100,956,716
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GDNF
glial cell derived neurotrophic factor
ISO
RGD
PMID:9853108
RGD:6218983
NCBI chr16:22,936,602...22,965,929
Ensembl chr16:22,936,604...22,966,536
G
GTF2I
general transcription factor IIi
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24097066
NCBI chr 3:11,656,928...11,811,426
Ensembl chr 3:11,671,575...11,811,423
G
HMOX1
heme oxygenase 1
treatment
ISO
RGD
PMID:24941846
RGD:10450595
G
HNRNPH1
heterogeneous nuclear ribonucleoprotein H1
ISO
RGD
PMID:19264855
RGD:10054311
NCBI chr 2:78,961,456...78,971,799
Ensembl chr 2:78,963,309...78,969,949
G
ICAM1
intercellular adhesion molecule 1
treatment
ISO
protein:increased expression:salivary gland protein:increased expression:plasma
RGD
PMID:11359451 PMID:15037117 PMID:21589878
RGD:8158122 RGD:8547696 RGD:8547705
NCBI chr 2:69,097,136...69,107,722
Ensembl chr 2:69,097,122...69,108,205
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ID3
inhibitor of DNA binding 3
ISO
OMIM:270150
MouseDO
NCBI chr 6:81,422,541...81,424,169
Ensembl chr 6:81,422,546...81,424,075
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IFNG
interferon gamma
ISO
RGD
PMID:15584966 PMID:28421993
RGD:14975117 RGD:8142390
NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,906...32,482,670
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IL10
interleukin 10
ISO
RGD
PMID:12233881
RGD:1580479
NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,728...67,405,378
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IL12A
interleukin 12A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24097067
NCBI chr13:99,733,394...99,741,078
Ensembl chr13:99,733,394...99,741,078
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IL13
interleukin 13
ISO
protein:increased expression:serum
RGD
PMID:12051401
RGD:8549582
NCBI chr 2:134,972,099...134,976,672
Ensembl chr 2:134,972,623...134,975,093
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IL17A
interleukin 17A
ISO
RGD
PMID:21182786
RGD:8696035
NCBI chr 7:46,013,584...46,017,161
Ensembl chr 7:46,013,584...46,017,153
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IL18
interleukin 18
ISO
protein:increased expression:saliva
RGD
PMID:23906036
RGD:8655918
NCBI chr 9:39,839,959...39,861,258
Ensembl chr 9:39,834,973...39,861,219
G
IL1RN
interleukin 1 receptor antagonist
ISO
protein:increased expression:conjunctiva (human) DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human)
RGD
PMID:9646842 PMID:11527941
RGD:8549786 RGD:8549807
G
IL2
interleukin 2
ISO
OMIM:270150
MouseDO
NCBI chr 8:101,640,938...101,645,683
Ensembl chr 8:101,640,944...101,645,609
G
IL23R
interleukin 23 receptor
ISO
protein:increased expression:minor salivary gland:
RGD
PMID:22262980
RGD:8549566
NCBI chr 6:145,337,765...145,401,909
Ensembl chr 6:145,335,741...145,401,510
G
IL2RA
interleukin 2 receptor subunit alpha
ISO
OMIM:270150
MouseDO
NCBI chr10:64,948,149...65,001,320
Ensembl chr10:64,948,563...65,001,142
G
IL4
interleukin 4
ISO
OMIM:270150
MouseDO
NCBI chr 2:134,986,817...134,994,365
Ensembl chr 2:134,986,817...134,994,365
G
IL6
interleukin 6
severity
ISO
protein:increased expression:plasma: DNA:polymorphims:promoter:-174G>C(human)
RGD
PMID:11426023
RGD:7829718
NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263
G
IRAK1BP1
interleukin 1 receptor associated kinase 1 binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24097067
NCBI chr 1:87,289,964...87,329,926
Ensembl chr 1:87,290,826...87,329,716
G
ITSN2
intersectin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24097067
NCBI chr 3:114,363,319...114,508,447
Ensembl chr 3:114,363,529...114,508,444
G
LTA
lymphotoxin alpha
no_association susceptibility
ISO
DNA:SNPs: :multiple (human) DNA:SNP, haplotype:intron: (rs909253) (human) protein:increased expression:saliva, serum
RGD
PMID:20952683 PMID:22294627
RGD:8548776 RGD:8548787
NCBI chr 7:23,696,387...23,698,280
Ensembl chr 7:23,696,040...23,698,299
G
MAP3K14
mitogen-activated protein kinase kinase kinase 14
ISO
OMIM:270150
MouseDO
NCBI chr12:18,142,899...18,182,931
Ensembl chr12:18,142,952...18,182,928
G
MMP3
matrix metallopeptidase 3
ISO
RGD
PMID:19332626
RGD:8693671
NCBI chr 9:33,446,969...33,453,995
Ensembl chr 9:33,446,836...33,454,000
G
MMP9
matrix metallopeptidase 9
ISO
protein:increased activity:saliva
RGD
PMID:9923658 PMID:15316122
RGD:8547814 RGD:8547858
NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788
G
MUC19
mucin 19, oligomeric
ISO
mRNA:decreased expression:conjunctival epithelial cell OMIM:270150
RGD MouseDO
PMID:18184611
RGD:7364736
NCBI chr 5:71,964,131...72,069,073
G
MUC5AC
mucin 5AC, oligomeric mucus/gel-forming
ISO
mRNA:decreased expression:conjunctival epithelial cell
RGD
PMID:18184611
RGD:7364736
NCBI chr 2:757,897...790,321
G
NCF1
neutrophil cytosolic factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28135245
NCBI chr 3:11,820,367...11,834,394
Ensembl chr 3:11,820,266...11,839,354
G
NEFL
neurofilament light chain
ISO
protein:increased expression:CSF (human)
RGD
PMID:32423153
RGD:127284890
NCBI chr14:8,991,321...8,996,900
Ensembl chr14:8,991,331...8,997,112
G
NFKBIA
NFKB inhibitor alpha
ISO
OMIM:270150
RGD MouseDO
PMID:20696914
RGD:126908016
NCBI chr 7:64,508,119...64,510,754
Ensembl chr 7:64,507,822...64,511,277
G
PHIP
pleckstrin homology domain interacting protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24097067
NCBI chr 1:87,116,884...87,247,500
Ensembl chr 1:87,117,092...87,243,675
G
PON1
paraoxonase 1
ISO
protein:decreased activity:serum (human)
RGD
PMID:20497955
RGD:8547550
NCBI chr 9:74,943,646...74,974,720
Ensembl chr 9:74,926,048...74,974,723
G
PRDM1
PR/SET domain 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24097067
NCBI chr 1:72,309,096...72,335,474
Ensembl chr 1:72,311,880...72,335,466
G
PTPN22
protein tyrosine phosphatase non-receptor type 22
no_association
ISO
DNA:snp:cds:c.1858C>T (human)
RGD
PMID:15933742 PMID:16163373
RGD:11534998 RGD:11534999
NCBI chr 4:106,692,102...106,758,101
Ensembl chr 4:106,686,604...106,758,099
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RORC
RAR related orphan receptor C
ISO
OMIM:270150
MouseDO
NCBI chr 4:97,374,672...97,399,017
Ensembl chr 4:97,375,136...97,400,209
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SATB1
SATB homeobox 1
ISO
OMIM:270150
MouseDO
NCBI chr13:5,315,985...5,410,686
Ensembl chr13:5,314,148...5,417,610
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SELP
selectin P
ISO
protein:increased expression:plasma
RGD
PMID:19832990
RGD:6478702
NCBI chr 4:81,376,804...81,401,240
Ensembl chr 4:81,365,740...81,399,955
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ST14
ST14 transmembrane serine protease matriptase
ISO
OMIM:270150
MouseDO
NCBI chr 9:56,888,246...56,929,771
Ensembl chr 9:56,888,246...56,929,767
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STAT4
signal transducer and activator of transcription 4
susceptibility no_association
ISO
DNA:SNP:intron: (rs7582694) (human) CTD Direct Evidence: marker/mechanism DNA:SNP:intron: (rs7574865) (human)
RGD CTD
PMID:18273036 PMID:20360187 PMID:20535138 PMID:24097066 PMID:24097067
RGD:8661690 RGD:8661708 RGD:8661709
NCBI chr15:95,656,206...95,764,099
Ensembl chr15:95,656,077...95,763,472
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TGFB1
transforming growth factor beta 1
severity
ISO
OMIM:270150
RGD MouseDO
PMID:7554451 PMID:9358754
RGD:7394829 RGD:7394845
NCBI chr 6:49,332,169...49,348,642
Ensembl chr 6:49,332,173...49,349,046
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THBS1
thrombospondin 1
ISO
OMIM:270150
MouseDO
NCBI chr 1:131,728,781...131,746,098
Ensembl chr 1:131,728,784...131,746,115
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TNF
tumor necrosis factor
treatment
ISO
DNA:polymorphism: :-1031T>C(human)
RGD
PMID:22703762 PMID:24941846
RGD:10450595 RGD:7394766
NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,415
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TNFAIP3
TNF alpha induced protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24097066 PMID:24097067
NCBI chr 1:26,474,158...26,489,771
Ensembl chr 1:26,473,938...26,489,822
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TNFSF13B
TNF superfamily member 13b
ISO
OMIM:270150
MouseDO
NCBI chr11:75,599,296...75,633,044
Ensembl chr11:75,599,598...75,633,041
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TNIP1
TNFAIP3 interacting protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24097067
NCBI chr16:71,926,038...71,979,969
Ensembl chr16:71,926,133...71,979,966
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TRAF3IP2
TRAF3 interacting protein 2
ISO
OMIM:270150
MouseDO
NCBI chr 1:77,483,997...77,541,557
Ensembl chr 1:77,487,577...77,541,198
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VIM
vimentin
ISO
RGD
PMID:6352937
RGD:6480477
NCBI chr10:43,516,441...43,526,172
Ensembl chr10:43,517,307...43,526,170
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VIP
vasoactive intestinal peptide
ISO
RGD
PMID:22059987
RGD:5685375
NCBI chr 1:13,611,786...13,620,250
Ensembl chr 1:13,611,311...13,620,269
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IDO1
indoleamine 2,3-dioxygenase 1
ISO
RGD
PMID:26914138
RGD:11529541
NCBI chr17:9,245,283...9,260,140
Ensembl chr17:9,245,196...9,260,473
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IL6
interleukin 6
susceptibility
ISO
CTD Direct Evidence: marker/mechanism
OMIM CTD
NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263
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IL6R
interleukin 6 receptor
treatment
ISO
RGD
PMID:18358927
RGD:10402823
NCBI chr 4:95,322,426...95,381,393
Ensembl chr 4:95,322,433...95,381,282
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MIF
macrophage migration inhibitory factor
susceptibility
ISO
CTD Direct Evidence: marker/mechanism
OMIM CTD
NCBI chr14:49,840,303...49,841,063
Ensembl chr14:49,840,305...49,841,068
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