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 subfamily B member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20080907 PMID:22104130
NCBI chr14:13,644,891...13,852,829
Ensembl chr14:13,542,647...13,742,727
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ABCC2
ATP binding cassette subfamily C member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23897011
NCBI chr28:12,670,885...12,740,124
Ensembl chr28:12,670,885...12,740,740
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ABCC3
ATP binding cassette subfamily C member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23897011
NCBI chr 9:26,551,953...26,596,330
Ensembl chr 9:26,551,268...26,595,646
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ABCC4
ATP binding cassette subfamily C member 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23897011
NCBI chr22:45,767,033...46,013,577
Ensembl chr22:45,765,835...46,013,505
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ABCC5
ATP binding cassette subfamily C member 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23897011
NCBI chr34:16,856,624...16,947,844
Ensembl chr34:16,856,633...16,946,422
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ABCG2
ATP binding cassette subfamily G member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23897011
NCBI chr32:11,443,778...11,517,674
Ensembl chr32:11,443,780...11,517,674
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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 3:51,995,100...52,031,812
Ensembl chr 3:51,969,779...52,031,544
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ACKR3
atypical chemokine receptor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19192274
NCBI chr25:47,327,921...47,339,632
Ensembl chr25:47,327,963...47,339,622
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ADAMTS4
ADAM metallopeptidase with thrombospondin type 1 motif 4
ISO
mRNA:increased expression:synovium
RGD
PMID:11801682
RGD:10043106
NCBI chr38:21,283,555...21,292,432
Ensembl chr38:21,284,330...21,292,437
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ADAMTS5
ADAM metallopeptidase with thrombospondin type 1 motif 5
ISO
protein:alternative form:synovium
RGD
PMID:11801682
RGD:10043106
NCBI chr31:22,242,901...22,289,453
Ensembl chr31:22,248,092...22,289,802
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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 chr34:19,398,310...19,410,519
Ensembl chr34:19,354,825...19,409,844
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ADORA2A
adenosine A2a receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19192274
NCBI chr26:28,141,076...28,150,600
Ensembl chr26:28,141,076...28,150,598
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ADRB3
adrenoceptor beta 3
ISO
DNA:missense mutation:cds:p.W64R rs4994 (human)
RGD
PMID:12739037
RGD:5684893
NCBI chr16:27,445,601...27,446,796
Ensembl chr16:27,445,601...27,447,521
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AFF3
ALF transcription elongation factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20453842 PMID:23143596
NCBI chr10:42,587,173...43,111,739
Ensembl chr10:42,586,394...43,247,328
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AGER
advanced glycosylation end-product specific receptor
ISO
CTD Direct Evidence: marker/mechanism protein:decreased expression:plasma (human)
CTD RGD
PMID:16385501 PMID:20541603
RGD:7244141
NCBI chr12:1,574,251...1,577,410
Ensembl chr12:1,574,251...1,577,129
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AHR
aryl hydrocarbon receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18617548
NCBI chr14:31,743,704...31,793,484
Ensembl chr14:31,686,170...31,791,444
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ALOX5
arachidonate 5-lipoxygenase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12833524
NCBI chr28:2,170,920...2,218,765
Ensembl chr28:2,170,920...2,219,609
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ANKRD55
ankyrin repeat domain 55
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143596
NCBI chr 2:43,338,042...43,655,708
Ensembl chr 2:43,339,179...43,488,840
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ANXA3
annexin A3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22446963
NCBI chr32:3,006,000...3,049,321
Ensembl chr32:3,005,788...3,049,049
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APOA4
apolipoprotein A4
ISO
protein:increased expression:blood serum (human)
RGD
PMID:20367977
RGD:5685646
NCBI chr 5:16,751,588...16,754,215
Ensembl chr 5:16,751,799...16,754,837
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ARID5B
AT-rich interaction domain 5B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22446963 PMID:23143596
NCBI chr 4:13,926,759...14,105,069
Ensembl chr 4:13,927,217...14,101,364
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ATIC
5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19193698
NCBI chr37:22,420,645...22,446,769
Ensembl chr37:22,420,603...22,446,697
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AZGP1
alpha-2-glycoprotein 1, zinc-binding
ISO
mRNA:decreased expression:liver
RGD
PMID:18372237
RGD:153352318
NCBI chr 6:9,622,991...9,629,154
Ensembl chr 6:9,622,992...9,629,154
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B3GNT2
UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22446963
NCBI chr10:62,170,262...62,239,010
Ensembl chr10:62,145,117...62,146,310 Ensembl chr10:62,145,117...62,146,310
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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 5:82,212,940...82,215,918
Ensembl chr 5:82,212,922...82,214,679
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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 6:10,968,100...11,055,040
Ensembl chr 6:10,968,060...11,053,494
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BCL2A1
BCL2 related protein A1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19192274
NCBI chr 3:57,451,512...57,463,692
Ensembl chr 3:57,424,555...57,463,692
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BDKRB2
bradykinin receptor B2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12833524
NCBI chr 8:64,974,588...65,005,682
Ensembl chr 8:64,974,997...65,003,407
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BGLAP
bone gamma-carboxyglutamate protein
ISO
protein:increased expression:serum
RGD
PMID:3488088 PMID:22447331
RGD:6483593 RGD:6483600
NCBI chr 7:41,630,092...41,630,976
Ensembl chr 7:41,630,098...41,665,791
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BGN
biglycan
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15292528
NCBI chr X:121,330,371...121,334,634
Ensembl chr X:121,330,259...121,334,634
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BLK
BLK proto-oncogene, Src family tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20453842 PMID:23143596
NCBI chr25:26,336,253...26,357,494
Ensembl chr25:26,336,892...26,358,015
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BMP4
bone morphogenetic protein 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20008919
NCBI chr 8:29,997,563...30,254,307
Ensembl chr 8:29,997,569...30,004,557
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BMP6
bone morphogenetic protein 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20008919
NCBI chr35:7,780,763...7,833,095
Ensembl chr35:7,804,231...7,831,845
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BTNL2
butyrophilin like 2
susceptibility
ISO
DNA:SNPs: :
RGD
PMID:23364395
RGD:9685033
NCBI chr12:2,085,589...2,106,787
Ensembl chr12:2,086,324...2,107,124
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C3
complement C3
ISO
RGD
PMID:7561187
RGD:11040775
NCBI chr20:53,566,226...53,598,365
Ensembl chr20:53,566,261...53,598,761
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CA1
carbonic anhydrase 1
ISO
RGD
PMID:12806141
RGD:408425977
NCBI chr29:31,858,644...31,868,135
Ensembl chr29:31,858,636...31,868,158
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CA2
carbonic anhydrase 2
ISO
RGD
PMID:12806141
RGD:408425977
NCBI chr29:31,959,225...31,975,309
Ensembl chr29:31,935,172...31,980,579
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CALD1
caldesmon 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15292528
NCBI chr16:13,087,419...13,279,648
Ensembl chr16:13,084,109...13,279,384
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CASP7
caspase 7
ISO
RGD
PMID:18785314
RGD:5684540
NCBI chr28:24,599,866...24,630,018
Ensembl chr28:24,599,493...24,628,668
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CAST
calpastatin
ISO
RGD
PMID:7706496
RGD:5683620
NCBI chr 3:12,920,514...13,031,974
Ensembl chr 3:12,922,453...13,031,959
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CAT
catalase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22450443
NCBI chr18:33,383,005...33,422,447
Ensembl chr18:33,383,005...33,422,447
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CAV2
caveolin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17379860
NCBI chr14:55,437,622...55,445,481
Ensembl chr14:55,437,622...55,445,469
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CCL2
C-C motif chemokine ligand 2
ISO
protein:increased expression:serum
RGD
PMID:20056091
RGD:4891442
NCBI chr 9:39,008,187...39,009,932
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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 chr11:51,375,107...51,375,790
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CCL22
C-C motif chemokine ligand 22
ISO
protein:increased expression:plasma:
RGD
PMID:19942450
RGD:10054497
NCBI chr 2:59,039,650...59,045,519
Ensembl chr 2:59,040,539...59,045,625
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CCL8
C-C motif chemokine ligand 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17568789
NCBI chr 9:38,949,184...38,950,702
Ensembl chr 9:38,948,184...38,950,803
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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 6:62,443,285...62,446,246
Ensembl chr 6:62,443,675...62,445,994
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CCN2
cellular communication network factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19192274
NCBI chr 1:25,508,082...25,511,058
Ensembl chr 1:25,507,662...25,510,145
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CCR1
chemokine (C-C motif) receptor 1
ISO
RGD
PMID:12860725
RGD:5688170
NCBI chr20:42,421,356...42,427,177
Ensembl chr20:42,421,356...42,426,958
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CCR3
C-C motif chemokine receptor 3
ISO
protein:increased expression:synovial fluid, neutrophil
RGD
PMID:19017998
RGD:4145632
NCBI chr20:42,382,380...42,398,449
Ensembl chr20:42,383,135...42,384,217
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CCR4
C-C motif chemokine receptor 4
ISO
protein:increased expression:synovial membrane: mRNA:increased expression:synovium:
RGD
PMID:19942450 PMID:25430645
RGD:10054497 RGD:10054499
NCBI chr23:3,844,072...3,847,770
Ensembl chr23:3,844,173...3,845,255
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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 chr20:42,293,288...42,297,952
Ensembl chr20:42,294,996...42,297,952
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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 1:54,932,798...54,960,646
Ensembl chr 1:54,932,690...54,959,740
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CD2
CD2 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143596
NCBI chr17:54,171,764...54,184,221
Ensembl chr17:54,171,848...54,184,225
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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 chr38:21,495,649...21,522,656
Ensembl chr38:21,495,720...21,517,043
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CD28
CD28 molecule
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:19075187 PMID:19898481 PMID:20453842 PMID:23143596
RGD:5131619
NCBI chr37:12,503,849...12,536,362
Ensembl chr37:12,503,811...12,532,854
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CD3E
CD3 epsilon subunit of T-cell receptor complex
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12833524
NCBI chr 5:15,403,724...15,415,259
Ensembl chr 5:15,403,710...15,415,260
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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 chr24:33,352,992...33,383,488
Ensembl chr24:33,372,930...33,383,301
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CD5
CD5 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143596
NCBI chr18:55,216,415...55,235,567
Ensembl chr18:55,217,276...55,235,405
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CD80
CD80 molecule
ISO
protein:increased expression:serum
RGD
PMID:22917707
RGD:6893647
NCBI chr33:23,177,136...23,208,421
Ensembl chr33:23,177,138...23,201,380
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CD83
CD83 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22446963
NCBI chr35:13,489,046...13,507,897
Ensembl chr35:13,489,000...13,507,068
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CDK6
cyclin dependent kinase 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18794853
NCBI chr14:18,178,352...18,413,869
Ensembl chr14:18,188,429...18,419,869
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CEBPB
CCAAT enhancer binding protein beta
ISO
protein:increased expression:knee, articular cartilage (human)
RGD
PMID:19248099
RGD:10401213
NCBI chr24:36,661,294...36,663,162
Ensembl chr24:36,661,616...36,662,656
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CHI3L1
chitinase 3 like 1
severity
ISO
protein:increased secretion:serum (human)
RGD
PMID:10461474
RGD:4892605
NCBI chr 7:25,620...32,954
Ensembl chr 7:26,316...33,427
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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 3:36,852,082...37,164,930
Ensembl chr 3:36,852,543...36,978,399
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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 chr25:44,178,149...44,183,623
Ensembl chr25:44,178,181...44,183,626
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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 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:5491189
NCBI chr 6:31,774,486...31,837,025
Ensembl chr 6:31,774,609...31,836,820
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CLEC12A
C-type lectin domain family 12 member A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17568789
NCBI chr27:36,040,574...36,051,249
Ensembl chr27:36,040,577...36,051,184
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CLEC16A
C-type lectin domain containing 16A
ISO
DNA:polymorphism:intron:rs6498169G
RGD
PMID:19221398
RGD:5491176
NCBI chr 6:31,560,940...31,757,100
Ensembl chr 6:31,562,834...31,757,678
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COL2A1
collagen type II alpha 1 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27028940 PMID:29935983
NCBI chr27:6,756,994...6,787,733
Ensembl chr27:6,756,994...6,787,733
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CP
ceruloplasmin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26001728
NCBI chr23:43,969,297...44,033,226
Ensembl chr23:43,969,435...44,030,369
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CRP
C-reactive protein
ISO
protein:increased expression:serum CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:1568518 PMID:22173958
RGD:6904209
NCBI chr38:22,396,787...22,398,180
Ensembl chr38:22,396,263...22,399,166
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CSF2
colony stimulating factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22446963
NCBI chr11:20,342,880...20,346,959
Ensembl chr11:20,344,648...20,346,959
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CTLA4
cytotoxic T-lymphocyte associated protein 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20453842 PMID:23143596
NCBI chr37:12,647,712...12,653,874
Ensembl chr37:12,634,563...12,653,874
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CTSD
cathepsin D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12833524
NCBI chr18:46,010,440...46,019,457
Ensembl chr18:46,010,440...46,019,457
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CX3CL1
C-X3-C motif chemokine ligand 1
ISO
RGD
PMID:11465708
RGD:4892002
NCBI chr 2:59,022,794...59,032,095
Ensembl chr 2:59,022,794...59,032,095
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CXCL8
C-X-C motif chemokine ligand 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17379860 PMID:19192274
NCBI chr13:62,435,035...62,438,354
Ensembl chr13:62,434,422...62,438,354
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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:55,882,433...55,884,582
Ensembl chr X:55,882,433...55,884,582
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CXCR4
C-X-C motif chemokine receptor 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19192274
NCBI chr19:38,874,650...38,877,740
Ensembl chr19:38,874,145...38,877,740
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CYBB
cytochrome b-245 beta chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24313545
NCBI chr X:32,533,365...32,568,149
Ensembl chr X:32,533,320...32,568,217
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DDIT4
DNA damage inducible transcript 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17379860
NCBI chr 4:22,916,718...22,918,893
Ensembl chr 4:22,916,096...22,964,035
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DDX6
DEAD-box helicase 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143596
NCBI chr 5:15,001,988...15,034,128
Ensembl chr 5:15,002,246...15,032,348
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DHFR
dihydrofolate reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23897011
NCBI chr 3:26,521,214...26,556,065
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DLA-DQA1
major histocompatibility complex, class II, DQ alpha 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17568789
NCBI chr12:2,221,181...2,227,600
Ensembl chr12:2,221,137...2,227,600
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DLA-DQB1
major histocompatibility complex, class II, DQ beta 1
ISO
DNA:polymorphism (human)
RGD
PMID:11454644
RGD:5147860
NCBI chr12:2,305,307...2,307,711
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DLA-DRB1
MHC class II DLA DRB1 beta chain
susceptibility
ISO
DNA:polymorphisms (human) CTD Direct Evidence: marker/mechanism DNA:polymorphisms: :multiple (human) DNA:polymorphism (human)
RGD CTD
PMID:11454644 PMID:18512783 PMID:19117368 PMID:19898480 PMID:20453842 PMID:21246357 PMID:22286218 More...
RGD:4144826 RGD:5147567 RGD:5147616 RGD:5147860
NCBI chr12:2,151,409...2,164,564
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DNASE1L3
deoxyribonuclease 1L3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143596 PMID:30224649
NCBI chr20:32,350,138...32,379,240
Ensembl chr20:32,358,110...32,379,245
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DNMT1
DNA methyltransferase 1
severity
ISO
mRNA:increased expression:mononuclear cell
RGD
PMID:20937307
RGD:9588623
NCBI chr20:50,872,213...50,928,352
Ensembl chr20:50,879,527...50,928,029
G
DNMT3B
DNA methyltransferase 3 beta
disease_progression
ISO
DNA:polymorphism:promoter:-283C>T(human)
RGD
PMID:19777235
RGD:9589110
NCBI chr24:22,096,386...22,123,378
Ensembl chr24:22,096,349...22,122,900
G
EDN1
endothelin 1
treatment
ISO
RGD
PMID:22249931
RGD:8661695
NCBI chr35:11,808,892...11,815,383
Ensembl chr35:11,808,892...11,815,383
G
ELN
elastin
ISO
RGD
PMID:12643515
RGD:9585739
NCBI chr 6:6,299,524...6,331,425
Ensembl chr 6:6,300,727...6,331,325
G
ENO1
enolase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19898480
NCBI chr 5:62,300,805...62,314,508
Ensembl chr 5:62,300,808...62,304,093
G
EPAS1
endothelial PAS domain protein 1
ISO
protein:increased expression:layer of synovial tissue, stromal cell
RGD
PMID:12823854
RGD:10395366
NCBI chr10:48,550,836...48,636,776
Ensembl chr10:48,551,410...48,634,844
G
ESCO2
establishment of sister chromatid cohesion N-acetyltransferase 2
ISO
mRNA:increased expression:peripheral blood mononuclear cell
RGD
PMID:36104638
RGD:155791669
NCBI chr25:29,785,641...29,812,536
Ensembl chr25:29,787,132...29,811,112
G
ESR2
estrogen receptor 2
severity
ISO
DNA:SNP:exon:rs1256049(human)
RGD
PMID:21523342
RGD:5508794
NCBI chr 8:38,645,917...38,715,347
Ensembl chr 8:38,645,430...38,702,691
G
F2
coagulation factor II, thrombin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26001728
NCBI chr18:42,782,744...42,799,531
Ensembl chr18:42,782,751...42,799,459
G
FAS
Fas cell surface death receptor
susceptibility
ISO
protein:increased expression:serum (human) DNA:snp:promoter:g.-670A>G (human)
RGD
PMID:12148596 PMID:20875116 PMID:23053964
RGD:12903969 RGD:8662433 RGD:8662455
NCBI chr26:38,738,811...38,763,298
Ensembl chr26:38,737,611...38,763,321
G
FASLG
Fas ligand
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20008919
NCBI chr 7:26,335,837...26,344,224
Ensembl chr 7:26,335,846...26,344,224
G
FCGR1A
Fc fragment of IgG receptor Ia
ISO
protein:increased expression:synovial joint:
RGD
PMID:16670289
RGD:9685708
NCBI chr17:59,073,139...59,102,023
Ensembl chr17:59,092,933...59,102,015
G
FKBP5
FKBP prolyl isomerase 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12833524
NCBI chr12:4,724,668...4,833,691
Ensembl chr12:4,727,497...4,833,323
G
FOXO3
forkhead box O3
ISO
mRNA,protein:increased expression:peripheral blood mononuclear cell, polymorphonuclear cell,synovium:
RGD
PMID:19435720
RGD:10402186
NCBI chr12:65,552,455...65,673,467
Ensembl chr12:65,552,310...65,670,198
G
FOXP3
forkhead box P3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20476861
NCBI chr X:42,331,229...42,362,841
Ensembl chr X:42,344,108...42,350,758
G
FPGS
folylpolyglutamate synthase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23897011
NCBI chr 9:55,590,092...55,612,639
Ensembl chr 9:55,585,970...55,599,028
G
GATA3
GATA binding protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143596
NCBI chr 2:28,068,143...28,098,445
Ensembl chr 2:28,069,051...28,087,760
G
GC
GC vitamin D binding protein
ISO
protein:decreased expression:plasma CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:3874814 PMID:9548303
RGD:5509931
NCBI chr13:60,795,305...60,828,038
Ensembl chr13:60,795,305...60,827,929
G
GDF5
growth differentiation factor 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18830904
NCBI chr24:24,395,699...24,400,302
Ensembl chr24:24,395,263...24,399,928
G
GGH
gamma-glutamyl hydrolase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23897011
NCBI chr29:13,143,881...13,165,028
Ensembl chr29:13,134,232...13,165,028
G
GIN1
gypsy retrotransposon integrase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143596
NCBI chr 3:8,088,719...8,116,461
Ensembl chr 3:8,088,515...8,116,436
G
GPRC5A
G protein-coupled receptor class C group 5 member A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17379860
NCBI chr27:33,438,196...33,460,062
Ensembl chr27:33,441,527...33,460,377
G
GRK2
G protein-coupled receptor kinase 2
ISO
protein: decreased expression: mononuclear leukocytes CTD Direct Evidence: marker/mechanism DNA: deletion: : heterozygous
RGD CTD
PMID:10094932 PMID:18662895
RGD:5688373 RGD:5688380
NCBI chr18:50,148,566...50,167,422
Ensembl chr18:50,148,598...50,167,428
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 chr28:29,424,350...29,636,552
Ensembl chr28:29,424,593...29,632,741
G
GRK6
G protein-coupled receptor kinase 6
ISO
CTD Direct Evidence: marker/mechanism DNA: deletion: : homozygous protein: decreased expression: mononuclear leukocytes
CTD RGD
PMID:10094932 PMID:18662895
RGD:5688373 RGD:5688380
NCBI chr 4:35,927,470...35,943,218
Ensembl chr 4:35,913,472...35,943,221
G
GSDME
gasdermin E
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17379860
NCBI chr14:38,210,975...38,286,729
Ensembl chr14:38,211,540...38,292,280
G
HAPLN1
hyaluronan and proteoglycan link protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17568789
NCBI chr 3:23,999,148...24,077,935
Ensembl chr 3:23,998,545...24,074,580
G
HCLS1
hematopoietic cell-specific Lyn substrate 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12833524
NCBI chr33:24,901,023...24,925,710
Ensembl chr33:24,901,287...24,922,923
G
HDAC1
histone deacetylase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:32289289
NCBI chr 2:68,901,339...68,936,473
Ensembl chr 2:68,901,651...68,936,186
G
HFE
homeostatic iron regulator
ISO
DNA:missense mutation: :p.C282Y (rs1800562) (human)
RGD
PMID:30651232
RGD:14746965
NCBI chr35:24,031,479...24,038,922
Ensembl chr35:24,031,387...24,042,413
G
HGF
hepatocyte growth factor
disease_progression
ISO
protein:increased expression:serum:
RGD
PMID:24387171
RGD:8548659
NCBI chr18:21,329,688...21,410,257
Ensembl chr18:21,332,817...21,410,263
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 8:36,614,045...36,656,692
Ensembl chr 8:36,614,045...36,656,692
G
HNRNPA2B1
heterogeneous nuclear ribonucleoprotein A2/B1
severity
ISO
RGD
PMID:18025202
RGD:9685481
NCBI chr14:39,498,805...39,509,034
Ensembl chr14:39,500,897...39,508,952
G
HOXD10
homeobox D10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17568789
NCBI chr36:19,924,352...19,927,706
Ensembl chr36:19,916,175...19,927,724
G
HOXD11
homeobox D11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17568789
NCBI chr36:19,913,064...19,926,868
Ensembl chr36:19,914,431...19,916,766
G
HOXD13
homeobox D13
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17568789
NCBI chr36:19,901,184...19,903,837
G
HSD11B1
hydroxysteroid 11-beta dehydrogenase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19192274
NCBI chr 7:8,344,380...8,409,901
Ensembl chr 7:8,344,447...8,409,897
G
HSP90AA1
heat shock protein 90 alpha family class A member 1
ISO
mRNA:increased expression:peripheral blood leukocyte:
RGD
PMID:21417552
RGD:10402843
NCBI chr 8:70,091,203...70,096,107
Ensembl chr 8:70,092,217...70,095,243
G
HSPA4
heat shock protein family A (Hsp70) member 4
ISO
protein:increased expression:peripheral blood lymphocyte (human)
RGD
PMID:22047640
RGD:5688784
NCBI chr11:21,290,603...21,363,701
Ensembl chr11:21,290,621...21,505,122
G
HSPA5
heat shock protein family A (Hsp70) member 5
ISO
protein:increased expression:synovial joint
RGD
PMID:11315915
RGD:5685639
NCBI chr 9:57,850,870...57,855,607
Ensembl chr 9:57,850,922...57,855,257
G
HSPA9
heat shock protein family A (Hsp70) member 9
ISO
protein:increased expression:synovial cell:
RGD
PMID:23739258
RGD:10402561
NCBI chr11:26,122,917...26,142,458
Ensembl chr11:26,121,499...26,142,434
G
HSPB1
heat shock protein family B (small) member 1
ISO
protein:increased expression:serum:
RGD
PMID:21417552
RGD:10402843
NCBI chr 6:7,487,164...7,488,576
Ensembl chr 6:7,487,250...7,488,576
G
HSPD1
heat shock protein family D (Hsp60) member 1
ISO
mRNA:increased expression:peripheral blood leukocyte:
RGD
PMID:21417552
RGD:10402843
NCBI chr37:7,010,421...7,025,912
G
IFNG
interferon gamma
treatment
ISO
CTD Direct Evidence: marker/mechanism mRNA:increased expression:synovial (human)
CTD RGD
PMID:1417133 PMID:22450443 PMID:22660635
RGD:155663483 RGD:8157623
NCBI chr10:10,406,866...10,411,698
Ensembl chr10:10,406,867...10,411,698
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 chr18:46,294,036...46,311,982
Ensembl chr18:46,294,019...46,311,982
G
IGFBP3
insulin like growth factor binding protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17379860
NCBI chr16:1,021,855...1,027,604
Ensembl chr16:1,021,972...1,026,392
G
IKZF3
IKAROS family zinc finger 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143596
NCBI chr 9:22,643,482...22,733,988
Ensembl chr 9:22,643,640...22,728,385
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 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057
G
IL13
interleukin 13
ISO
protein:increased expression:serum
RGD
PMID:12051401
RGD:8549582
NCBI chr11:20,957,870...20,961,391
Ensembl chr11:20,958,464...20,961,388
G
IL17A
interleukin 17A
treatment
ISO
mRNA:increased expression:synovial (human)
RGD
PMID:20926833 PMID:22660635
RGD:155663483 RGD:9068415
NCBI chr12:19,854,129...19,862,521
Ensembl chr12:19,854,129...19,862,513
G
IL18
interleukin 18
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16368150
NCBI chr 5:20,972,742...20,995,327
Ensembl chr 5:20,972,871...20,995,348
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 7:6,000,994...6,006,959
Ensembl chr 7:6,000,907...6,006,870
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 chr17:36,969,581...36,979,445
Ensembl chr17:36,970,573...36,979,435
G
IL1B
interleukin 1 beta
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
NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458
G
IL1RN
interleukin 1 receptor antagonist
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD RGD
PMID:7706905 PMID:10637275 PMID:19192274 PMID:19447938
RGD:7174696 RGD:8549810
NCBI chr17:37,236,690...37,250,424
Ensembl chr17:37,212,751...37,249,329
G
IL2
interleukin 2
ISO
RGD
PMID:6421522
RGD:8662948
NCBI chr19:17,750,780...17,756,394
Ensembl chr19:17,750,780...17,756,394
G
IL20
interleukin 20
ISO
RGD
PMID:16947773
RGD:5147395
NCBI chr 7:6,019,879...6,022,707
Ensembl chr 7:6,019,442...6,023,219
G
IL21R
interleukin 21 receptor
ISO
RGD
PMID:19342640
RGD:6892964
NCBI chr 6:19,181,846...19,217,915
Ensembl chr 6:19,182,071...19,217,931
G
IL23A
interleukin 23 subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19192274
NCBI chr10:635,384...640,715
Ensembl chr10:638,719...640,359
G
IL23R
interleukin 23 receptor
susceptibility
ISO
DNA:SNP::rs1343151(human)
RGD
PMID:18647855
RGD:8549596
NCBI chr 5:43,307,422...43,369,806
Ensembl chr 5:43,308,982...43,368,474
G
IL2RA
interleukin 2 receptor subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20453842 PMID:20476861 PMID:23143596
NCBI chr 2:29,892,130...29,948,926
Ensembl chr 2:29,894,125...29,944,643
G
IL2RB
interleukin 2 receptor subunit beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20453842 PMID:23143596
NCBI chr10:27,370,797...27,388,775
Ensembl chr10:27,370,797...27,388,775
G
IL3
interleukin 3
ISO
DNA: SNPs: Multiple: gene-gene interaction
RGD
PMID:20018070
RGD:5686905
NCBI chr11:20,330,480...20,332,668
Ensembl chr11:20,330,480...20,332,668
G
IL4R
interleukin 4 receptor
severity
ISO
DNA:SNP: :rs1805010 (human)
RGD
PMID:24782180
RGD:10402783
NCBI chr 6:19,254,183...19,280,973
Ensembl chr 6:19,254,487...19,389,291
G
IL5
interleukin 5
ISO
RGD
PMID:22293286
RGD:5687156
NCBI chr11:20,825,469...20,827,269
Ensembl chr11:20,825,469...20,827,269
G
IL6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19192274 PMID:22450443
NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519
G
IL6R
interleukin 6 receptor
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
PMID:16729287 PMID:23143596
NCBI chr 7:42,877,731...42,920,149
Ensembl chr 7:42,880,885...42,920,090
G
IL6ST
interleukin 6 cytokine family signal transducer
ISO
CTD Direct Evidence: marker/mechanism OMIM:180300
CTD MouseDO
PMID:20453842
NCBI chr 2:43,214,050...43,273,014
Ensembl chr 2:43,214,050...43,248,124
G
IRAK1
interleukin 1 receptor associated kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143596
NCBI chr X:121,853,340...121,862,582
Ensembl chr X:121,819,432...121,862,576
G
IRF5
interferon regulatory factor 5
ISO
ClinVar Annotator: match by term: Rheumatoid arthritis
ClinVar
PMID:15657875 PMID:16642019 PMID:17599733 PMID:18063667 PMID:25741868
NCBI chr14:7,724,168...7,734,976
Ensembl chr14:7,724,780...7,742,795
G
IRF8
interferon regulatory factor 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143596
NCBI chr 5:66,789,264...66,812,477
Ensembl chr 5:66,791,350...66,842,179
G
ITGA6
integrin subunit alpha 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17379860
NCBI chr36:16,777,363...16,858,725
Ensembl chr36:16,776,863...16,855,449
G
ITPA
inosine triphosphatase
treatment
ISO
DNA:SNP: :94C>A(human)
RGD
PMID:29441893
RGD:14975307
NCBI chr24:18,070,980...18,081,815
Ensembl chr24:18,064,983...18,082,163
G
JAK2
Janus kinase 2
ISO
RGD
PMID:21510883
RGD:6483024
NCBI chr 1:93,321,055...93,438,898
Ensembl chr 1:93,142,635...93,435,997
G
KAT2B
lysine acetyltransferase 2B
ISO
mRNA:increased expression:peripheral blood mononuclear cell
RGD
PMID:36104638
RGD:155791669
NCBI chr23:23,166,722...23,242,447
Ensembl chr23:23,168,600...23,233,478
G
KIF5A
kinesin family member 5A
susceptibility
ISO
DNA:snp:intron:c.1717-152C>G (rs1678542) (human) DNA:snps:intron, 3' utr:c.2756-43A>C, c.*776C>T (rs775246, rs775251) (human) CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:21784728 PMID:23143596 PMID:23378462
RGD:12793072 RGD:12793073
NCBI chr10:1,637,007...1,666,790
Ensembl chr10:1,636,932...1,664,767
G
KMT2C
lysine methyltransferase 2C
treatment
ISO
RGD
PMID:33914205
RGD:151356764
NCBI chr16:15,962,045...16,117,601
Ensembl chr16:15,963,901...16,158,408
G
LCN2
lipocalin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7554268
NCBI chr 9:55,328,118...55,342,535
Ensembl chr 9:55,328,133...55,332,038
G
LHX2
LIM homeobox 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17568789
NCBI chr 9:58,825,505...58,859,311
Ensembl chr 9:58,825,492...58,845,883
G
LOC478984
low affinity immunoglobulin gamma Fc region receptor III
susceptibility
ISO
DNA:CNVs protein:decreased expression:NK cell DNA:polymorphism:exon:p.F158V(rs396991)(human)
RGD
PMID:15334114 PMID:19019892 PMID:25154742
RGD:11344974 RGD:5508391 RGD:5508467
NCBI chr38:21,054,870...21,060,948
G
LOC481722
complement C4-A
ISO
RGD
PMID:22076784
RGD:5688263
NCBI chr12:1,433,185...1,448,056
G
LOC487740
trifunctional purine biosynthetic protein adenosine-3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23897011
NCBI chr31:29,032,399...29,063,706
G
LOC491316
midkine
ISO
RGD
PMID:15146411
RGD:1581200
NCBI chr 9:55,100,491...55,101,081
G
LRRK2
leucine rich repeat kinase 2
ISO
RGD
PMID:17082220
RGD:5508419
NCBI chr27:13,282,824...13,420,917
Ensembl chr27:13,283,756...13,420,870
G
LY96
lymphocyte antigen 96
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17379860
NCBI chr29:22,493,757...22,515,147
Ensembl chr29:22,493,896...22,515,117
G
MAB21L2
mab-21 like 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17568789
NCBI chr15:48,538,912...48,541,651
Ensembl chr15:48,539,955...48,541,034
G
MARCKS
myristoylated alanine rich protein kinase C substrate
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19192274
NCBI chr12:69,980,003...69,987,150
Ensembl chr12:69,980,433...69,984,848
G
MBD2
methyl-CpG binding domain protein 2
ISO
mRNA:increased expression:mononuclear cell
RGD
PMID:20937307
RGD:9588623
NCBI chr 1:21,232,260...21,283,687
Ensembl chr 1:21,235,967...21,283,346
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 chr20:5,716,162...5,725,068
Ensembl chr20:5,716,239...5,724,881
G
MGARP
mitochondria localized glutamic acid rich protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17568789
NCBI chr19:3,411,718...3,423,589
Ensembl chr19:3,411,778...3,423,330
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MIF
macrophage migration inhibitory factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16872482
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MIR23B
microRNA mir-23b
ISO
mRNA, protein:decreased expression:synovial (human)
RGD
PMID:22660635
RGD:155663483
NCBI chr 1:71,678,353...71,678,406
Ensembl chr 1:71,678,346...71,678,416
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MMEL1
membrane metalloendopeptidase like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143596
NCBI chr 5:57,434,880...57,467,973
Ensembl chr 5:57,434,886...57,465,911
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MMP1
matrix metallopeptidase 1
ISO
protein:increased expression:plasma (human)
RGD
PMID:9972954
RGD:7207129
NCBI chr 5:28,978,385...28,986,644
Ensembl chr 5:28,978,473...28,986,648
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MMP12
matrix metallopeptidase 12
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19192274
NCBI chr 5:28,918,626...28,933,404
Ensembl chr 5:28,918,594...28,933,309
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MMP14
matrix metallopeptidase 14
ISO
OMIM:180300
MouseDO
NCBI chr 8:3,183,419...3,193,079
Ensembl chr 8:3,183,606...3,194,122
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MMP2
matrix metallopeptidase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16872482
NCBI chr 2:60,471,092...60,492,991
Ensembl chr 2:60,471,257...60,494,113
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MMP3
matrix metallopeptidase 3 (stromelysin 1, progelatinase)
disease_progression
ISO
protein:increased expression:serum (human)
RGD
PMID:7639798 PMID:11796404 PMID:22314025
RGD:7207128 RGD:7241254 RGD:8693673
NCBI chr 5:28,949,631...28,957,915
Ensembl chr 5:28,949,631...28,958,222
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MMP8
matrix metallopeptidase 8
ISO
protein:increased expression:synovial fluid, serum (human)
RGD
PMID:15194590
RGD:7207131
NCBI chr 5:29,036,381...29,047,180
Ensembl chr 5:29,035,820...29,046,808
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MMP9
matrix metallopeptidase 9
ISO
RGD
PMID:16406300
RGD:1582623
NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293
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MPO
myeloperoxidase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22450443 PMID:26001728
NCBI chr 9:32,927,483...32,938,007
Ensembl chr 9:32,927,483...32,937,820
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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:2,747...3,702
Ensembl chr MT:2,747...3,703
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MTHFR
methylenetetrahydrofolate reductase
ISO
DNA:SNP: :677C>T(human) CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:22104130 PMID:23685257
RGD:7387222
NCBI chr 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818
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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 6:5,702,222...5,719,515
Ensembl chr 6:5,605,694...5,719,458
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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 7:16,914,629...16,946,370
Ensembl chr 7:16,904,031...16,945,372
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NCF4
neutrophil cytosolic factor 4
ISO
DNA:polymorphism, SNP:cds (rs729749) (human)
RGD
PMID:17897462
RGD:41404710
NCBI chr10:27,597,296...27,672,199
Ensembl chr10:27,597,486...27,615,261
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NDUFA4L2
NDUFA4 mitochondrial complex associated like 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19192274
NCBI chr10:1,362,479...1,365,203
Ensembl chr10:1,362,577...1,364,515
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NFKBIE
NFKB inhibitor epsilon
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22446963
NCBI chr12:12,668,664...12,674,146
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NFKBIL1
NFKB inhibitor like 1
susceptibility
ISO
ClinVar Annotator: match by term: Rheumatoid arthritis
OMIM ClinVar
PMID:12509789 PMID:25741868
NCBI chr12:1,048,393...1,057,458
Ensembl chr12:1,049,109...1,057,237
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NOTCH4
notch receptor 4
ISO
mRNA : increased expression: : cd4+ cells
RGD
PMID:20132067
RGD:6480790
NCBI chr12:1,585,249...1,608,721
Ensembl chr12:1,587,918...1,607,760
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NPSR1
neuropeptide S receptor 1
ISO
RGD
PMID:20179762
RGD:4891930
NCBI chr14:46,465,169...46,610,256
Ensembl chr14:46,466,544...46,609,477
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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 2:38,124,568...38,242,510
Ensembl chr 2:38,123,190...38,240,755
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NR4A3
nuclear receptor subfamily 4 group A member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19192274
NCBI chr11:56,806,506...56,846,997
Ensembl chr11:56,812,804...56,847,689
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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 1:43,972,915...44,037,477
Ensembl chr 1:43,972,219...44,141,238
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PADI2
peptidyl arginine deiminase 2
ISO
ClinVar Annotator: match by term: Rheumatoid arthritis
ClinVar
NCBI chr 2:81,116,031...81,147,889
Ensembl chr 2:81,116,140...81,145,043
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PADI4
peptidyl arginine deiminase 4
ISO
ClinVar Annotator: match by term: Rheumatoid arthritis
ClinVar
NCBI chr 2:80,912,814...80,942,767
Ensembl chr 2:80,905,391...80,993,973
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PDGFB
platelet derived growth factor subunit B
ISO
RGD
PMID:1708827
RGD:6482653
NCBI chr10:25,798,877...25,819,422
Ensembl chr10:25,798,938...25,817,746
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PGF
placental growth factor
ISO
RGD
PMID:19180491
RGD:6483591
NCBI chr 8:48,059,554...48,110,534
Ensembl chr 8:48,059,552...48,075,170
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PIK3R1
phosphoinositide-3-kinase regulatory subunit 1
ISO
mRNA:increased expression:cartilage tissue (human)
RGD
PMID:31472145
RGD:152177908
NCBI chr 2:53,447,802...53,527,563
Ensembl chr 2:53,448,286...53,524,970
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PLA2G7
phospholipase A2 group VII
ISO
RGD
PMID:17326817
RGD:6482776
NCBI chr12:14,866,229...14,908,230
Ensembl chr12:14,866,229...14,908,114
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PLAUR
plasminogen activator, urokinase receptor
ISO
RGD
PMID:22011479
RGD:6484117
NCBI chr 1:111,476,804...111,490,876
Ensembl chr 1:111,476,893...111,490,880
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PLB1
phospholipase B1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24520335
NCBI chr17:22,420,679...22,558,318
Ensembl chr17:22,440,651...22,557,737
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PLD4
phospholipase D family member 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22446963
NCBI chr 8:72,410,076...72,417,681
Ensembl chr 8:72,416,637...72,417,384
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PLEK
pleckstrin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12833524
NCBI chr10:67,395,972...67,421,247
Ensembl chr10:67,395,972...67,421,247
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PON1
paraoxonase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16055108
NCBI chr14:20,565,620...20,600,774
Ensembl chr14:20,565,641...20,642,985
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POU3F1
POU class 3 homeobox 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143596
NCBI chr15:4,547,868...4,549,469
Ensembl chr15:4,547,920...4,549,469
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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 chr12:63,454,242...63,495,278
Ensembl chr12:63,470,974...63,495,579
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PRKCQ
protein kinase C theta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18794853 PMID:20453842 PMID:23143596
NCBI chr 2:29,319,123...29,505,338
Ensembl chr 2:29,318,870...29,505,337
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PTGS1
prostaglandin-endoperoxide synthase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15167967
NCBI chr 9:60,195,118...60,216,847
Ensembl chr 9:60,195,124...60,216,819
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PTGS2
prostaglandin-endoperoxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:11978490 PMID:19192274 PMID:21905970
RGD:5508313
NCBI chr 7:19,668,079...19,674,903
Ensembl chr 7:19,668,082...19,674,903
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PTK2
protein tyrosine kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12833524
NCBI chr13:35,302,439...35,541,336
Ensembl chr13:35,303,380...35,541,294
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PTPN2
protein tyrosine phosphatase non-receptor type 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22446963
NCBI chr 7:78,160,564...78,252,382
Ensembl chr 7:78,160,589...78,252,719
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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 chr17:51,623,628...51,683,039
Ensembl chr17:51,623,623...51,682,858
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PTPRC
protein tyrosine phosphatase receptor type C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20453842 PMID:23143596
NCBI chr 7:4,155,876...4,282,151
Ensembl chr 7:4,137,728...4,282,124
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PXK
PX domain containing serine/threonine kinase like
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20453842
NCBI chr20:32,138,320...32,272,767
Ensembl chr20:32,193,339...32,272,774
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RAB8A
RAB8A, member RAS oncogene family
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12833524
NCBI chr20:46,334,601...46,351,907
Ensembl chr20:46,334,601...46,351,907
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RAP2A
RAP2A, member of RAS oncogene family
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12833524
NCBI chr22:47,777,621...47,814,061
Ensembl chr22:47,778,780...47,810,802
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RASGRP1
RAS guanyl releasing protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143596
NCBI chr30:5,840,901...5,914,804
Ensembl chr30:5,841,738...5,914,810
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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 3:84,060,417...84,286,008
Ensembl chr 3:84,064,440...84,286,360
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RCAN1
regulator of calcineurin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143596
NCBI chr31:29,908,046...30,002,412
Ensembl chr31:29,909,388...30,002,418
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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 chr10:60,990,264...61,030,162
Ensembl chr10:60,990,197...61,023,663
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RGMB
repulsive guidance molecule BMP co-receptor b
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17568789
NCBI chr 3:11,407,426...11,427,317
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RUNX1
RUNX family transcription factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143596
NCBI chr31:30,170,859...30,420,344
Ensembl chr31:30,170,605...30,420,839
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RUNX2
RUNX family transcription factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20008919
NCBI chr12:13,723,535...13,842,565
Ensembl chr12:13,628,539...13,840,785 Ensembl chr12:13,628,539...13,840,785
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SEMA3C
semaphorin 3C
ISO
protein:increased expression:knee, synovium (human)
RGD
PMID:15077297
RGD:1580084
NCBI chr18:20,457,683...20,748,008
Ensembl chr18:20,459,925...20,635,276
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SLC11A1
solute carrier family 11 member 1
severity
ISO
DNA:polymorphisms, deletion: :823C>T, p.D543N (human) DNA:polymorphism:promoter (human) CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:10719815 PMID:12135431 PMID:16597321
RGD:5684967 RGD:5684971
NCBI chr37:25,039,203...25,047,461
Ensembl chr37:25,038,360...25,047,282
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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 chr11:20,599,281...20,643,893
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SLC25A12
solute carrier family 25 member 12
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12833524
NCBI chr36:16,185,011...16,391,080
Ensembl chr36:16,185,649...16,483,016
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SMS
spermine synthase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19192274
NCBI chr X:17,749,020...17,803,351
Ensembl chr X:17,749,530...17,802,999
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SOD2
superoxide dismutase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12833524 PMID:15292528 PMID:24313545
NCBI chr 1:48,943,472...48,955,158
Ensembl chr 1:48,836,262...48,955,706
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SPP1
secreted phosphoprotein 1
ISO
RGD
PMID:15761492
RGD:1581382
NCBI chr32:11,354,070...11,362,325
Ensembl chr32:11,353,953...11,362,069
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SPRED2
sprouty related EVH1 domain containing 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20453842 PMID:23143596
NCBI chr10:64,764,275...64,815,937
Ensembl chr10:64,764,311...64,867,009
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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 6:69,706,717...69,867,760
Ensembl chr 6:69,709,114...69,867,648
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STAT1
signal transducer and activator of transcription 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12833524
NCBI chr37:1,513,438...1,549,837
Ensembl chr37:1,507,219...1,550,178
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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 chr 9:20,539,660...20,614,631
Ensembl chr 9:20,539,697...20,612,672
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STAT4
signal transducer and activator of transcription 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20453842 PMID:23143596
NCBI chr37:1,566,563...1,685,378
Ensembl chr37:1,566,585...1,829,894
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STS
steroid sulfatase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19192274
NCBI chr X:4,396,867...4,470,093
Ensembl chr X:4,325,665...4,467,284
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SUPT20H
SPT20 homolog, SAGA complex component
ISO
ClinVar Annotator: match by term: Rheumatoid arthritis
ClinVar
NCBI chr25:3,658,528...3,698,487
Ensembl chr25:3,658,795...3,701,763
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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 1:40,125,842...40,216,455
Ensembl chr 1:40,149,569...40,215,385
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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:25,950,071...26,039,180
Ensembl chr X:25,954,145...26,008,169
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TAGAP
T cell activation RhoGTPase activating protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20453842 PMID:23143596
NCBI chr 1:48,382,688...48,392,977
Ensembl chr 1:48,383,504...48,392,188
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TAP2
transporter 2, ATP binding cassette subfamily B member
ISO
RGD
PMID:9645419
RGD:6482275
NCBI chr12:2,407,512...2,417,469
Ensembl chr12:2,378,126...2,432,303
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TFPI2
tissue factor pathway inhibitor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15292528 PMID:17379860
NCBI chr14:19,399,259...19,403,890
Ensembl chr14:19,399,720...19,403,708
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THBD
thrombomodulin
ISO
RGD
PMID:15700117
RGD:5685020
NCBI chr24:599,773...601,649
Ensembl chr24:599,773...601,649
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TLE3
TLE family member 3, transcriptional corepressor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143596
NCBI chr30:33,803,719...33,895,204
Ensembl chr30:33,803,734...33,896,525
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TLR1
toll like receptor 1
ISO
ClinVar Annotator: match by term: Rheumatoid arthritis
ClinVar
PMID:32594150
NCBI chr 3:73,504,359...73,544,822
Ensembl chr 3:73,539,715...73,544,624
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TLR2
toll like receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19192274
NCBI chr15:51,454,557...51,465,429
Ensembl chr15:51,454,695...51,465,241
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TMPO
thymopoietin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12833524
NCBI chr15:37,923,392...37,959,979
Ensembl chr15:37,932,891...37,959,246
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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 chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
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TNFAIP2
TNF alpha induced protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19192274
NCBI chr 8:70,965,776...70,977,807
Ensembl chr 8:70,967,741...70,976,396
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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 1:30,247,432...30,262,992
Ensembl chr 1:30,251,059...30,261,001
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TNFRSF11B
TNF receptor superfamily member 11b
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:23333834
NCBI chr13:18,155,765...18,183,263
Ensembl chr13:18,156,367...18,183,444
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TNFRSF14
TNF receptor superfamily member 14
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20453842
NCBI chr 5:57,386,190...57,416,864
Ensembl chr 5:57,411,529...57,416,512
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TNFRSF1A
TNF receptor superfamily member 1A
treatment
ISO
DNA:SNP:promoter:36G>A (human)
RGD
PMID:25311255
RGD:12904065
NCBI chr27:38,641,837...38,654,693
Ensembl chr27:38,638,753...38,700,282
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TNFSF14
TNF superfamily member 14
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20008919
NCBI chr20:53,604,101...53,607,522
Ensembl chr20:53,603,709...53,607,522
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TRAF1
TNF receptor associated factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18794853 PMID:23143596
NCBI chr11:73,920,729...73,939,644
Ensembl chr11:73,927,007...73,937,655
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TRAF6
TNF receptor associated factor 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20453842 PMID:23143596
NCBI chr18:31,674,242...31,689,160
Ensembl chr18:31,675,391...31,688,641
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TREM1
triggering receptor expressed on myeloid cells 1
treatment
ISO
RGD
PMID:27049384
RGD:127229930
NCBI chr12:9,990,678...10,000,195
Ensembl chr12:9,990,679...10,000,236
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TXNDC5
thioredoxin domain containing 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23326410
NCBI chr35:7,834,135...7,854,836
Ensembl chr35:7,834,331...7,854,852
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TXNIP
thioredoxin interacting protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19192274
NCBI chr17:58,775,588...58,779,730
Ensembl chr17:58,776,871...58,779,531
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TYK2
tyrosine kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143596 PMID:30224649
NCBI chr20:50,747,145...50,770,008
Ensembl chr20:50,748,329...50,769,216
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TYMS
thymidylate synthetase
treatment
ISO
DNA:polymorphism: :
RGD
PMID:22763757
RGD:11075093
NCBI chr 7:67,487,927...67,497,747
Ensembl chr 7:67,487,927...67,497,747
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TYROBP
transmembrane immune signaling adaptor TYROBP
treatment
ISO
RGD
PMID:27049384
RGD:127229930
NCBI chr 1:116,757,271...116,760,453
Ensembl chr 1:116,757,289...116,772,325
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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 chr27:6,852,915...6,909,466
Ensembl chr27:6,852,723...6,909,470
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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 chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965
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VIM
vimentin
ISO
RGD
PMID:21792832
RGD:6480508
NCBI chr 2:19,671,316...19,679,367
Ensembl chr 2:19,671,316...19,679,466
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ZAP70
zeta chain of T cell receptor associated protein kinase 70
ISO
OMIM:180300
MouseDO
NCBI chr10:44,887,416...44,913,845
Ensembl chr10:44,887,433...44,900,071
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ZFP36
ZFP36 ring finger protein
ISO
OMIM:180300
MouseDO
NCBI chr 1:113,815,972...113,818,093
Ensembl chr 1:113,816,273...113,818,065
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HGF
hepatocyte growth factor
ISO
protein:increased expression:serum:
RGD
PMID:24387171
RGD:8548659
NCBI chr18:21,329,688...21,410,257
Ensembl chr18:21,332,817...21,410,263
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VEGFA
vascular endothelial growth factor A
ISO
protein:increased expression:serum:
RGD
PMID:24387171
RGD:8548659
NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965
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DLA-DRB1
MHC class II DLA DRB1 beta chain
susceptibility
ISO
DNA:polymorphism: :HLA-DRB1*1104, HLA-DRB1*080(human)
RGD
PMID:7955632
RGD:7365102
NCBI chr12:2,151,409...2,164,564
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ACP3
acid phosphatase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr23:29,294,641...29,353,970
Ensembl chr23:29,294,843...29,343,499
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ACRBP
acrosin binding protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr27:38,380,244...38,388,502
Ensembl chr27:38,380,363...38,388,496
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ADCY7
adenylate cyclase 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 2:65,003,891...65,034,812
Ensembl chr 2:65,006,038...65,034,777
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ALOX12
arachidonate 12-lipoxygenase, 12S type
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 5:32,026,193...32,038,698
Ensembl chr 5:31,882,501...32,038,119
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ANKRD9
ankyrin repeat domain 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 8:70,441,493...70,445,555
Ensembl chr 8:70,441,587...70,443,987
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AOPEP
aminopeptidase O (putative)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 1:71,770,687...72,009,374
Ensembl chr 1:71,677,068...72,009,395
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APOBEC3Z1
apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3Z1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
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AQP9
aquaporin 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr30:23,223,413...23,271,893
Ensembl chr30:23,225,331...23,269,076
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AREG
amphiregulin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr13:62,925,761...62,936,753
Ensembl chr13:62,926,301...62,936,738
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ASAP1
ArfGAP with SH3 domain, ankyrin repeat and PH domain 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr13:27,111,785...27,468,476
Ensembl chr13:27,113,994...27,430,758
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AVL9
AVL9 cell migration associated
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr14:44,881,279...44,914,680
Ensembl chr14:44,882,259...44,914,624
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B4GALT5
beta-1,4-galactosyltransferase 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr24:36,220,973...36,241,482
Ensembl chr24:36,221,189...36,300,804
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BEND2
BEN domain containing 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr X:14,263,152...14,324,882
Ensembl chr X:14,265,296...14,333,751
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BLTP3B
bridge-like lipid transfer protein family member 3B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr15:39,215,209...39,311,999
Ensembl chr15:39,217,887...39,311,999
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BTG1
BTG anti-proliferation factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr15:32,646,520...32,648,222
Ensembl chr15:32,647,472...32,647,762
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BTG3
BTG anti-proliferation factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr31:14,079,228...14,117,347
Ensembl chr31:14,079,652...14,095,265
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C37H2orf88
chromosome 37 C2orf88 homolog
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr37:611,530...840,144
Ensembl chr37:836,416...836,703
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C8B
complement C8 beta chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7980680
NCBI chr 5:52,535,359...52,574,872
Ensembl chr 5:52,532,481...52,574,182
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C9orf72
C9orf72-SMCR8 complex subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr11:45,664,942...45,688,777
Ensembl chr11:45,666,293...45,688,780
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CALD1
caldesmon 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr16:13,087,419...13,279,648
Ensembl chr16:13,084,109...13,279,384
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CAMSAP1
calmodulin regulated spectrin associated protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 9:49,458,701...49,523,056
Ensembl chr 9:49,458,694...49,521,332
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CCDC122
coiled-coil domain containing 122
ISO
ClinVar Annotator: match by term: JUVENILE ARTHRITIS
ClinVar
PMID:25741868
NCBI chr22:7,004,022...7,047,249
Ensembl chr22:7,003,850...7,046,952
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CCR5
C-C motif chemokine receptor 5
no_association
ISO
DNA:polymorphisms: :multiple (human) DNA:frameshift mutation:cds:p.S185_T195del rs333 (human)
RGD
PMID:16775617 PMID:17565662
RGD:1626283 RGD:1626284
NCBI chr20:42,293,288...42,297,952
Ensembl chr20:42,294,996...42,297,952
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CD14
CD14 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 2:35,790,505...35,792,967
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CD83
CD83 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr35:13,489,046...13,507,897
Ensembl chr35:13,489,000...13,507,068
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CD8B
CD8 subunit beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr17:38,342,897...38,358,127
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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:exon:1614G>C (human)
RGD
PMID:16426246 PMID:17661914
RGD:5491187 RGD:5491189
NCBI chr 6:31,774,486...31,837,025
Ensembl chr 6:31,774,609...31,836,820
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CLU
clusterin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr25:29,982,811...29,999,565
Ensembl chr25:29,982,811...29,999,563
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CMTM2
CKLF like MARVEL transmembrane domain containing 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 5:82,679,457...82,696,686
Ensembl chr 5:82,679,473...82,697,153
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CREM
cAMP responsive element modulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 2:1,755,189...1,828,746
Ensembl chr 2:1,755,522...1,828,910
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CRP
C-reactive protein
ISO
protein:increased expression:serum
RGD
PMID:22885951
RGD:6906884
NCBI chr38:22,396,787...22,398,180
Ensembl chr38:22,396,263...22,399,166
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CTLA4
cytotoxic T-lymphocyte associated protein 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr37:12,647,712...12,653,874
Ensembl chr37:12,634,563...12,653,874
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CTTN
cortactin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr18:47,932,367...47,960,732
Ensembl chr18:47,916,632...47,960,674
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CXCR2
C-X-C motif chemokine receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr37:24,831,351...24,846,387
Ensembl chr37:24,843,171...24,844,247
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CXCR4
C-X-C motif chemokine receptor 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504 PMID:26387944
NCBI chr19:38,874,650...38,877,740
Ensembl chr19:38,874,145...38,877,740
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DAPK1
death associated protein kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 1:72,278,939...72,448,907
Ensembl chr 1:72,280,103...72,447,822
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DDIT3
DNA damage inducible transcript 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr10:1,606,693...1,612,410
Ensembl chr10:1,606,693...1,611,303
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DLA-DQB1
major histocompatibility complex, class II, DQ beta 1
ISO
DNA:polymorphism (human)
RGD
PMID:10457895
RGD:5147863
NCBI chr12:2,305,307...2,307,711
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DLA-DRB1
MHC class II DLA DRB1 beta chain
ISO
DNA:polymorphism (human)
RGD
PMID:10457895 PMID:19908388
RGD:5147587 RGD:5147863
NCBI chr12:2,151,409...2,164,564
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DUSP1
dual specificity phosphatase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 4:39,588,833...39,591,065
Ensembl chr 4:39,588,339...39,590,514
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DUSP2
dual specificity phosphatase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr17:34,586,635...34,589,076
Ensembl chr17:34,586,716...34,588,453
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DUSP4
dual specificity phosphatase 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
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DYSF
dysferlin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr17:51,011,197...51,228,969
Ensembl chr17:51,011,197...51,228,876
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EGF
epidermal growth factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr32:30,073,541...30,166,904
Ensembl chr32:30,073,950...30,166,295
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EGR1
early growth response 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr11:26,046,195...26,049,806
Ensembl chr11:26,046,228...26,048,575
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ELF2
E74 like ETS transcription factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr19:3,482,845...3,580,380
Ensembl chr19:3,483,542...3,578,870
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ETNK1
ethanolamine kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr27:24,561,708...24,624,794
Ensembl chr27:24,567,318...24,624,797
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ETV6
ETS variant transcription factor 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr27:34,351,206...34,587,060
Ensembl chr27:34,343,390...34,587,060
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FAM20A
FAM20A golgi associated secretory pathway pseudokinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 9:15,205,887...15,218,873
Ensembl chr 9:15,207,300...15,230,447
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FAXDC2
fatty acid hydroxylase domain containing 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 4:54,962,585...54,988,756
Ensembl chr 4:54,970,733...54,991,204
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FCGR1A
Fc fragment of IgG receptor Ia
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr17:59,073,139...59,102,023
Ensembl chr17:59,092,933...59,102,015
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FCHSD2
FCH and double SH3 domains 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr21:25,082,864...25,399,754
Ensembl chr21:25,072,161...25,397,717
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FOS
Fos proto-oncogene, AP-1 transcription factor subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 8:48,330,856...48,334,273
Ensembl chr 8:48,331,026...48,333,467
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FOSB
FosB proto-oncogene, AP-1 transcription factor subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 1:110,088,686...110,092,818
Ensembl chr 1:110,087,036...110,092,818
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FOSL2
FOS like 2, AP-1 transcription factor subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr17:22,340,469...22,364,994
Ensembl chr17:22,341,322...22,361,772
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FOXP1
forkhead box P1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr20:20,438,631...21,020,516
Ensembl chr20:20,788,433...21,016,397
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GADD45A
growth arrest and DNA damage inducible alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 6:77,393,026...77,396,473
Ensembl chr 6:77,393,036...77,396,618
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GMPR
guanosine monophosphate reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr35:15,400,937...15,449,157
Ensembl chr35:15,401,003...15,448,022
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GNG11
G protein subunit gamma 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr14:19,426,916...19,431,232
Ensembl chr14:19,426,685...19,431,235
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GP1BB
glycoprotein Ib platelet subunit beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr26:29,567,437...29,568,627
Ensembl chr26:29,528,366...29,568,522
G
H2AC4
H2A clustered histone 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr35:23,990,768...23,991,294
G
H2BC14
H2B clustered histone 14
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr35:25,006,472...25,035,326
Ensembl chr35:25,006,510...25,006,890
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HBEGF
heparin binding EGF like growth factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 2:35,551,248...35,563,310
Ensembl chr 2:35,551,250...35,563,043
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HERPUD2
HERPUD family member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr14:47,251,733...47,284,519
Ensembl chr14:47,210,672...47,284,529
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HFE
homeostatic iron regulator
ISO
DNA:missense mutation:cds:p.C282Y (human)
RGD
PMID:16047841
RGD:8694357
NCBI chr35:24,031,479...24,038,922
Ensembl chr35:24,031,387...24,042,413
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HSPD1
heat shock protein family D (Hsp60) member 1
ISO
protein:increased expression:serum,synovial fluid:
RGD
PMID:8255671
RGD:12910480
NCBI chr37:7,010,421...7,025,912
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IGF1R
insulin like growth factor 1 receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 3:41,795,337...42,096,255
Ensembl chr 3:41,794,623...42,090,387
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IL1A
interleukin 1 alpha
ISO
DNA:SNP:promoter:-889C>T (human)
RGD
PMID:8162643
RGD:7794716
NCBI chr17:36,969,581...36,979,445
Ensembl chr17:36,970,573...36,979,435
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IL1RN
interleukin 1 receptor antagonist
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr17:37,236,690...37,250,424
Ensembl chr17:37,212,751...37,249,329
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IL2
interleukin 2
ISO
protein:increased expression:mononuclear cell
RGD
PMID:21859687
RGD:5147870
NCBI chr19:17,750,780...17,756,394
Ensembl chr19:17,750,780...17,756,394
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IL6
interleukin 6
ISO
protein:increased expression:serum:
RGD
PMID:9489833
RGD:7829742
NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519
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ITGA2B
integrin subunit alpha 2b
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 9:19,049,643...19,064,019
Ensembl chr 9:19,050,001...19,063,992
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ITGB5
integrin subunit beta 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr33:27,797,204...27,912,558
Ensembl chr33:27,797,667...27,912,584
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JMJD1C
jumonji domain containing 1C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 4:15,006,670...15,261,139
Ensembl chr 4:15,007,508...15,261,691
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JUN
Jun proto-oncogene, AP-1 transcription factor subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 5:50,966,698...50,968,939
G
KAT6B
lysine acetyltransferase 6B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 4:25,131,580...25,303,355
Ensembl chr 4:25,131,844...25,301,825
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KCNJ15
potassium inwardly rectifying channel subfamily J member 15
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr31:33,314,061...33,388,165
Ensembl chr31:33,384,630...33,386,885
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KLF4
KLF transcription factor 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr11:62,881,840...62,886,676
Ensembl chr11:62,882,767...62,928,251
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KRAS
KRAS proto-oncogene, GTPase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr27:22,261,753...22,296,704
Ensembl chr27:22,257,941...22,293,369
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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 chr22:6,824,942...7,002,888
G
LOC476900
membrane-spanning 4-domains subfamily A member 4A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr21:50,598,991...50,614,428
G
LPP
LIM domain containing preferred translocation partner in lipoma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr34:20,538,580...21,157,978
Ensembl chr34:20,632,193...21,142,914
G
MAD1L1
mitotic arrest deficient 1 like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 6:14,889,126...15,236,194
Ensembl chr 6:14,882,875...15,236,192
G
MAFF
MAF bZIP transcription factor F
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr10:26,475,478...26,486,109
Ensembl chr10:26,476,851...26,485,931
G
MAML2
mastermind like transcriptional coactivator 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr21:4,824,377...5,166,859
Ensembl chr21:4,783,712...5,163,540
G
MAP2
microtubule associated protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr37:17,316,899...17,611,360
Ensembl chr37:17,466,678...17,607,803
G
MAPK1
mitogen-activated protein kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr26:31,013,607...31,132,998
Ensembl chr26:31,013,607...31,132,998
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MBL1
mannose binding lectin 1
ISO
RGD
PMID:18334024
RGD:12910845
NCBI chr 4:29,419,886...29,424,377
G
MEX3C
mex-3 RNA binding family member C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 1:23,818,790...23,838,106
Ensembl chr 1:23,818,099...23,836,297
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MSN
moesin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr X:50,708,913...50,775,404
Ensembl chr X:50,708,704...50,773,762
G
MTSS1
MTSS I-BAR domain containing 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr13:22,633,001...22,794,960
Ensembl chr13:22,635,230...22,794,453
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MYZAP
myocardial zonula adherens protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr30:22,760,852...22,850,293
G
NDEL1
nudE neurodevelopment protein 1 like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 5:33,187,614...33,244,483
Ensembl chr 5:33,204,452...33,266,052
G
NR4A2
nuclear receptor subfamily 4 group A member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr36:2,546,237...2,554,559
Ensembl chr36:2,547,421...2,552,780
G
NR4A3
nuclear receptor subfamily 4 group A member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr11:56,806,506...56,846,997
Ensembl chr11:56,812,804...56,847,689
G
NRG1
neuregulin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr16:31,697,958...32,771,888
Ensembl chr16:31,706,851...32,771,932
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OLR1
oxidized low density lipoprotein receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr27:35,828,852...35,838,748
Ensembl chr27:35,828,029...35,838,754
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OSM
oncostatin M
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr26:23,421,787...23,439,332
Ensembl chr26:23,421,787...23,426,036
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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 chr10:22,512,058...22,648,553
Ensembl chr10:22,512,077...22,647,322
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PCYT1B
phosphate cytidylyltransferase 1B, choline
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr X:20,076,298...20,207,837
Ensembl chr X:20,079,772...20,207,722
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PER1
period circadian regulator 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 5:32,957,517...32,972,368
Ensembl chr 5:32,957,127...32,968,465
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PGM5
phosphoglucomutase 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 1:88,823,883...89,011,091
Ensembl chr 1:88,825,152...88,994,750
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PLAUR
plasminogen activator, urokinase receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 1:111,476,804...111,490,876
Ensembl chr 1:111,476,893...111,490,880
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PLK2
polo like kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 2:45,359,865...45,365,496
Ensembl chr 2:45,360,374...45,367,441
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PLOD2
procollagen-lysine,2-oxoglutarate 5-dioxygenase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr23:41,290,183...41,382,917
Ensembl chr23:41,290,567...41,382,807
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PROS1
protein S
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr33:1,628,074...1,691,441
Ensembl chr33:1,628,105...1,692,058
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PTPN22
protein tyrosine phosphatase non-receptor type 22
ISO
DNA: snp : cds : rs2476601
RGD
PMID:15934099
RGD:6484550
NCBI chr17:51,623,628...51,683,039
Ensembl chr17:51,623,623...51,682,858
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R3HDM2
R3H domain containing 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr10:1,377,664...1,504,008
Ensembl chr10:1,370,350...1,504,017
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RASGEF1B
RasGEF domain family member 1B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr32:5,545,489...6,090,119
Ensembl chr32:5,546,524...6,090,764
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RBM47
RNA binding motif protein 47
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 3:71,985,725...72,135,271
Ensembl chr 3:71,985,831...72,132,918
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RERE
arginine-glutamic acid dipeptide repeats
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 5:61,868,288...62,249,009
Ensembl chr 5:61,868,685...62,215,973
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RHOBTB1
Rho related BTB domain containing 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 4:12,971,624...13,089,520
Ensembl chr 4:12,973,412...13,035,505
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RNF103
ring finger protein 103
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr17:38,549,838...38,566,613
Ensembl chr17:38,549,828...38,566,149
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SELP
selectin P
severity
ISO
protein:increased expression:plasma
RGD
PMID:21124648
RGD:6219006
NCBI chr 7:28,956,428...28,997,266
Ensembl chr 7:28,958,486...28,996,313
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SH2D2A
SH2 domain containing 2A
ISO
DNA:polymorphism:promoter
RGD
PMID:15129233
RGD:2298870
NCBI chr 7:41,186,721...41,195,987
Ensembl chr 7:41,186,252...41,195,122
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SH3BGRL2
SH3 domain binding glutamate rich protein like 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr12:40,579,997...40,656,376
Ensembl chr12:40,597,149...40,654,005
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SIK1
salt inducible kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr31:37,455,130...37,466,829
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SIPA1L1
signal induced proliferation associated 1 like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 8:44,916,309...45,260,197
Ensembl chr 8:44,990,495...45,258,614
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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 chr37:25,039,203...25,047,461
Ensembl chr37:25,038,360...25,047,282
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SLC22A16
solute carrier family 22 member 16
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr12:67,110,606...67,167,812
Ensembl chr12:67,110,606...67,149,880
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SLC26A2
solute carrier family 26 member 2
susceptibility
ISO
DNA:SNPs: :
RGD
PMID:17393463
RGD:13208931
NCBI chr 4:59,068,601...59,090,803
Ensembl chr 4:59,074,008...59,078,892
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SLC2A3
solute carrier family 2 member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr27:37,297,932...37,309,604
Ensembl chr27:37,297,932...37,428,410
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SMAD3
SMAD family member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr30:31,246,313...31,360,098
Ensembl chr30:31,245,657...31,363,337
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STAB1
stabilin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr20:37,249,744...37,276,642
Ensembl chr20:37,249,746...37,276,535
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STAT3
signal transducer and activator of transcription 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 9:20,539,660...20,614,631
Ensembl chr 9:20,539,697...20,612,672
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STIM1
stromal interaction molecule 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr21:26,394,592...26,594,764
Ensembl chr21:26,394,811...26,593,375
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TCF7L2
transcription factor 7 like 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr28:23,966,079...24,162,775
Ensembl chr28:23,966,073...24,163,737
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TFDP1
transcription factor Dp-1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr22:60,863,541...60,897,491
Ensembl chr22:60,870,413...60,896,629
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TFPI
tissue factor pathway inhibitor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr36:29,457,131...29,546,455
Ensembl chr36:29,459,371...29,511,310
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THBD
thrombomodulin
ISO
protein:increased expression:serum
RGD
PMID:15209962
RGD:5685023
NCBI chr24:599,773...601,649
Ensembl chr24:599,773...601,649
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THBS1
thrombospondin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr30:6,770,212...6,786,875
Ensembl chr30:6,769,470...6,784,915
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TNFAIP6
TNF alpha induced protein 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr19:52,607,598...52,623,799
Ensembl chr19:52,607,713...52,623,811
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TNFAIP8
TNF alpha induced protein 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr11:8,624,106...8,685,389
Ensembl chr11:8,660,557...8,684,374
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TNIK
TRAF2 and NCK interacting kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr34:35,426,716...35,727,308
Ensembl chr34:35,427,217...35,807,059
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TTLL5
tubulin tyrosine ligase like 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 8:48,651,766...48,920,733
Ensembl chr 8:48,651,814...48,920,039
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TUBB2A
tubulin beta 2A class IIa
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr35:3,448,402...3,450,783
Ensembl chr35:3,448,435...3,452,091
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UBE2E1
ubiquitin conjugating enzyme E2 E1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr23:19,863,136...19,937,272
Ensembl chr23:19,863,253...19,937,247
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UBE3C
ubiquitin protein ligase E3C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr16:19,590,115...19,716,664
Ensembl chr16:19,589,172...19,777,260
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WASF3
WASP family member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr25:12,804,485...12,881,988
Ensembl chr25:12,805,431...12,877,770
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WWOX
WW domain containing oxidoreductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 5:72,298,254...73,243,667
Ensembl chr 5:72,299,157...73,261,406
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ZFAND3
zinc finger AN1-type containing 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr12:6,819,403...7,140,144
Ensembl chr12:6,820,354...7,139,722
G
ZFC3H1
zinc finger C3H1-type containing
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr10:13,159,286...13,216,561
Ensembl chr10:13,159,957...13,216,546
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AIRE
autoimmune regulator
ISO
OMIM:270150
MouseDO
NCBI chr31:38,139,513...38,149,294
Ensembl chr31:38,139,099...38,149,296
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APOE
apolipoprotein E
onset
ISO
DNA:polymorphism:exon:
RGD
PMID:15328426
RGD:7495765
NCBI chr 1:110,525,717...110,528,534
Ensembl chr 1:110,525,722...110,528,440
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B9D2
B9 domain containing 2
severity
ISO
OMIM:270150
RGD MouseDO
PMID:7554451 PMID:9358754
RGD:7394829 RGD:7394845
NCBI chr 1:112,621,832...112,627,726
Ensembl chr 1:112,621,633...112,643,885
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BDNF
brain derived neurotrophic factor
severity
ISO
protein:increased expression:serum:
RGD
PMID:18830907
RGD:8657019
NCBI chr21:48,191,580...48,243,699
Ensembl chr21:48,192,670...48,204,480
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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 chr20:45,383,757...45,387,420
Ensembl chr20:45,383,915...45,387,178
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C3
complement C3
ISO
RGD
PMID:17675493
RGD:7401265
NCBI chr20:53,566,226...53,598,365
Ensembl chr20:53,566,261...53,598,761
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CA1
carbonic anhydrase 1
ISO
RGD
PMID:12806141
RGD:408425977
NCBI chr29:31,858,644...31,868,135
Ensembl chr29:31,858,636...31,868,158
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CA2
carbonic anhydrase 2
ISO
RGD
PMID:12806141 PMID:15831920
RGD:408425973 RGD:408425977
NCBI chr29:31,959,225...31,975,309
Ensembl chr29:31,935,172...31,980,579
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CAST
calpastatin
ISO
associated with Lupus Erythematosus, Systemic
RGD
PMID:15540513
RGD:5683622
NCBI chr 3:12,920,514...13,031,974
Ensembl chr 3:12,922,453...13,031,959
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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 chr20:42,293,288...42,297,952
Ensembl chr20:42,294,996...42,297,952
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CCR7
C-C motif chemokine receptor 7
ISO
OMIM:270150
MouseDO
NCBI chr 9:22,077,976...22,092,818
Ensembl chr 9:22,068,775...22,090,656
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CD40LG
CD40 ligand
ISO
protein:increased expression:salivary ductal epithelium (human)
RGD
PMID:12472667
RGD:11520791
NCBI chr X:107,001,421...107,023,007
Ensembl chr X:107,010,890...107,023,006
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CRP
C-reactive protein
ISO
associated with Arthritis, Rheumatoid;protein:increased expression:serum:
RGD
PMID:2353152 PMID:16013223
RGD:9491774 RGD:9491835
NCBI chr38:22,396,787...22,398,180
Ensembl chr38:22,396,263...22,399,166
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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 chr37:12,647,712...12,653,874
Ensembl chr37:12,634,563...12,653,874
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CYP19A1
cytochrome P450 family 19 subfamily A member 1
ISO
OMIM:270150
MouseDO
NCBI chr30:16,954,020...17,056,728
Ensembl chr30:16,957,215...16,988,353
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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 chr30:37,793,277...37,799,535
Ensembl chr30:37,793,508...37,796,866
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DGKQ
diacylglycerol kinase theta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24097067
NCBI chr 3:91,544,350...91,554,494
Ensembl chr 3:91,544,219...91,554,565
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DLA-DQB1
major histocompatibility complex, class II, DQ beta 1
susceptibility
ISO
DNA:polymorphisms:cds:HLA-DQB1*0201 (human) associated with Chronic Hepatitis C;DNA:polymorphism:cds:HLA-DQB1*02 (human) DNA:polymorphisms, haplotypes:cds:HLA-DQB1*0201, HLA-DQB1*0401, HLA-DQB1*0601 (human)
RGD
PMID:8468491 PMID:17489060 PMID:21315052
RGD:36174022 RGD:7421543 RGD:7483566
NCBI chr12:2,305,307...2,307,711
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DLA-DRB1
MHC class II DLA DRB1 beta chain
susceptibility
ISO
DNA:polymorphism:cds:HLA-DRB1*0301 (human)
RGD
PMID:11555411
RGD:5147809
NCBI chr12:2,151,409...2,164,564
G
E2F1
E2F transcription factor 1
ISO
OMIM:270150
MouseDO
NCBI chr24:22,895,149...22,904,689
Ensembl chr24:22,878,402...22,904,656
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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 chr26:38,738,811...38,763,298
Ensembl chr26:38,737,611...38,763,321
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GDNF
glial cell derived neurotrophic factor
ISO
RGD
PMID:9853108
RGD:6218983
NCBI chr 4:70,966,694...70,991,860
Ensembl chr 4:70,971,432...70,989,714
G
GTF2I
general transcription factor IIi
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24097066
NCBI chr 6:5,726,652...5,840,740
Ensembl chr 6:5,727,665...5,811,965
G
HMOX1
heme oxygenase 1
treatment
ISO
RGD
PMID:24941846
RGD:10450595
NCBI chr10:28,744,404...28,751,544
Ensembl chr10:28,743,795...28,751,773
G
HNRNPH1
heterogeneous nuclear ribonucleoprotein H1
ISO
RGD
PMID:19264855
RGD:10054311
NCBI chr11:2,050,753...2,059,999
Ensembl chr11:2,050,871...2,059,999
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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 chr20:50,818,715...50,827,914
Ensembl chr20:50,818,715...50,827,914
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ID3
inhibitor of DNA binding 3
ISO
OMIM:270150
MouseDO
NCBI chr 2:75,880,659...75,881,786
Ensembl chr 2:75,880,657...75,882,010
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IFNG
interferon gamma
ISO
RGD
PMID:15584966 PMID:28421993
RGD:14975117 RGD:8142390
NCBI chr10:10,406,866...10,411,698
Ensembl chr10:10,406,867...10,411,698
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IL10
interleukin 10
ISO
RGD
PMID:12233881
RGD:1580479
NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057
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IL12A
interleukin 12A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24097067
NCBI chr34:26,125,529...26,133,546
Ensembl chr34:26,124,770...26,133,550
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IL13
interleukin 13
ISO
protein:increased expression:serum
RGD
PMID:12051401
RGD:8549582
NCBI chr11:20,957,870...20,961,391
Ensembl chr11:20,958,464...20,961,388
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IL17A
interleukin 17A
ISO
RGD
PMID:21182786
RGD:8696035
NCBI chr12:19,854,129...19,862,521
Ensembl chr12:19,854,129...19,862,513
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IL18
interleukin 18
ISO
protein:increased expression:saliva
RGD
PMID:23906036
RGD:8655918
NCBI chr 5:20,972,742...20,995,327
Ensembl chr 5:20,972,871...20,995,348
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
NCBI chr17:37,236,690...37,250,424
Ensembl chr17:37,212,751...37,249,329
G
IL2
interleukin 2
ISO
OMIM:270150
MouseDO
NCBI chr19:17,750,780...17,756,394
Ensembl chr19:17,750,780...17,756,394
G
IL23R
interleukin 23 receptor
ISO
protein:increased expression:minor salivary gland:
RGD
PMID:22262980
RGD:8549566
NCBI chr 5:43,307,422...43,369,806
Ensembl chr 5:43,308,982...43,368,474
G
IL2RA
interleukin 2 receptor subunit alpha
ISO
OMIM:270150
MouseDO
NCBI chr 2:29,892,130...29,948,926
Ensembl chr 2:29,894,125...29,944,643
G
IL4
interleukin 4
ISO
OMIM:270150
MouseDO
NCBI chr11:20,972,693...20,981,539
Ensembl chr11:20,972,690...20,981,534
G
IL6
interleukin 6
severity
ISO
DNA:polymorphims:promoter:-174G>C(human) protein:increased expression:plasma:
RGD
PMID:11426023
RGD:7829718
NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519
G
IRAK1BP1
interleukin 1 receptor associated kinase 1 binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24097067
NCBI chr12:39,857,331...39,883,471
Ensembl chr12:39,857,392...39,875,399
G
ITSN2
intersectin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24097067
NCBI chr17:18,627,543...18,756,669
Ensembl chr17:18,627,935...18,756,114
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LTA
lymphotoxin alpha
susceptibility no_association
ISO
protein:increased expression:saliva, serum DNA:SNP, haplotype:intron: (rs909253) (human) DNA:SNPs: :multiple (human)
RGD
PMID:20952683 PMID:22294627
RGD:8548776 RGD:8548787
NCBI chr12:1,070,608...1,073,053
Ensembl chr12:1,071,192...1,073,067
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MAP3K14
mitogen-activated protein kinase kinase kinase 14
ISO
OMIM:270150
MouseDO
NCBI chr 9:18,255,416...18,302,405
Ensembl chr 9:18,280,198...18,302,401
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MMP3
matrix metallopeptidase 3 (stromelysin 1, progelatinase)
ISO
RGD
PMID:19332626
RGD:8693671
NCBI chr 5:28,949,631...28,957,915
Ensembl chr 5:28,949,631...28,958,222
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MMP9
matrix metallopeptidase 9
ISO
protein:increased activity:saliva
RGD
PMID:9923658 PMID:15316122
RGD:8547814 RGD:8547858
NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293
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MUC16
mucin 16, cell surface associated
ISO
mRNA, protein:increased expression:conjunctival epithelial cell, tear
RGD
PMID:19122828
RGD:7364772
NCBI chr20:51,790,036...51,876,801
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MUC19
mucin 19, oligomeric
ISO
mRNA:decreased expression:conjunctival epithelial cell OMIM:270150
RGD MouseDO
PMID:18184611
RGD:7364736
NCBI chr27:13,109,208...13,253,506
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MUC5AC
mucin 5AC, oligomeric mucus/gel-forming
ISO
mRNA:decreased expression:conjunctival epithelial cell
RGD
PMID:18184611
RGD:7364736
NCBI chr18:45,471,232...45,498,961
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NCF1
neutrophil cytosolic factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28135245
NCBI chr 6:5,702,222...5,719,515
Ensembl chr 6:5,605,694...5,719,458
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NEFL
neurofilament light chain
ISO
protein:increased expression:CSF (human)
RGD
PMID:32423153
RGD:127284890
NCBI chr25:32,463,361...32,468,965
Ensembl chr25:32,463,452...32,467,224
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NFKBIA
NFKB inhibitor alpha
ISO
OMIM:270150
RGD MouseDO
PMID:20696914
RGD:126908016
NCBI chr 8:14,100,203...14,103,453
Ensembl chr 8:14,100,671...14,103,433
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PHIP
pleckstrin homology domain interacting protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24097067
NCBI chr12:39,899,738...40,015,795
Ensembl chr12:39,904,603...40,032,194
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PON1
paraoxonase 1
ISO
protein:decreased activity:serum (human)
RGD
PMID:20497955
RGD:8547550
NCBI chr14:20,565,620...20,600,774
Ensembl chr14:20,565,641...20,642,985
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PRDM1
PR/SET domain 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24097067
NCBI chr12:63,454,242...63,495,278
Ensembl chr12:63,470,974...63,495,579
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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 chr17:51,623,628...51,683,039
Ensembl chr17:51,623,623...51,682,858
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PTTG1
PTTG1 regulator of sister chromatid separation, securin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24097067
NCBI chr 4:50,301,868...50,309,636
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RORC
RAR related orphan receptor C
ISO
OMIM:270150
MouseDO
NCBI chr17:60,821,498...60,842,485
Ensembl chr17:60,821,981...60,842,453
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SATB1
SATB homeobox 1
ISO
OMIM:270150
MouseDO
NCBI chr23:24,614,198...24,692,254
Ensembl chr23:24,593,489...24,690,977
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SELP
selectin P
ISO
protein:increased expression:plasma
RGD
PMID:19832990
RGD:6478702
NCBI chr 7:28,956,428...28,997,266
Ensembl chr 7:28,958,486...28,996,313
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ST14
ST14 transmembrane serine protease matriptase
ISO
OMIM:270150
MouseDO
NCBI chr 5:4,652,493...4,666,728
Ensembl chr 5:4,651,863...4,691,069
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STAT4
signal transducer and activator of transcription 4
susceptibility no_association
ISO
DNA:SNP:intron: (rs7574865) (human) DNA:SNP:intron: (rs7582694) (human) CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:18273036 PMID:20360187 PMID:20535138 PMID:24097066 PMID:24097067
RGD:8661690 RGD:8661708 RGD:8661709
NCBI chr37:1,566,563...1,685,378
Ensembl chr37:1,566,585...1,829,894
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THBS1
thrombospondin 1
ISO
OMIM:270150
MouseDO
NCBI chr30:6,770,212...6,786,875
Ensembl chr30:6,769,470...6,784,915
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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 chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
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TNFAIP3
TNF alpha induced protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24097066 PMID:24097067
NCBI chr 1:30,247,432...30,262,992
Ensembl chr 1:30,251,059...30,261,001
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TNFSF13B
TNF superfamily member 13b
ISO
OMIM:270150
MouseDO
NCBI chr22:57,036,307...57,069,053
Ensembl chr22:57,036,292...57,068,320
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TNIP1
TNFAIP3 interacting protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24097067
NCBI chr 4:58,150,734...58,200,158
Ensembl chr 4:58,149,882...58,199,644
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TRAF3IP2
TRAF3 interacting protein 2
ISO
OMIM:270150
MouseDO
NCBI chr12:68,029,861...68,070,901
Ensembl chr12:68,030,197...68,058,518
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VIM
vimentin
ISO
RGD
PMID:6352937
RGD:6480477
NCBI chr 2:19,671,316...19,679,367
Ensembl chr 2:19,671,316...19,679,466
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VIP
vasoactive intestinal peptide
ISO
RGD
PMID:22059987
RGD:5685375
NCBI chr 1:42,941,655...42,950,160
Ensembl chr 1:42,941,224...42,950,700
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IDO1
indoleamine 2,3-dioxygenase 1
ISO
RGD
PMID:26914138
RGD:11529541
NCBI chr16:25,391,759...25,407,161
Ensembl chr16:25,391,754...25,407,048
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IL6
interleukin 6
ISO
OMIM
NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519
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IL6R
interleukin 6 receptor
treatment
ISO
RGD
PMID:18358927
RGD:10402823
NCBI chr 7:42,877,731...42,920,149
Ensembl chr 7:42,880,885...42,920,090
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MIF
macrophage migration inhibitory factor
susceptibility
ISO
CTD Direct Evidence: marker/mechanism
OMIM CTD
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