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.
G
A2m
alpha-2-macroglobulin
ISO
GAD
PMID:15118671
RGD:1331525
NCBI chr 6:121,612,920...121,656,197
Ensembl chr 6:121,612,335...121,656,186
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Abcb1a
ATP-binding cassette, sub-family B member 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20080907 PMID:22104130
NCBI chr 5:8,617,091...8,798,575
Ensembl chr 5:8,710,077...8,798,575
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Abcc2
ATP-binding cassette, sub-family member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23897011
NCBI chr19:43,770,747...43,826,771
Ensembl chr19:43,770,631...43,829,179
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Abcc3
ATP-binding cassette, sub-family C member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23897011
NCBI chr11:94,234,121...94,283,843
Ensembl chr11:94,234,121...94,283,823
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Abcc4
ATP-binding cassette, sub-family C member 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23897011
NCBI chr14:118,720,104...118,945,475
Ensembl chr14:118,720,104...118,943,631
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Abcc5
ATP-binding cassette, sub-family C member 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23897011
NCBI chr16:20,150,053...20,245,178
Ensembl chr16:20,150,053...20,245,144
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Abcg2
ATP binding cassette subfamily G member 2 (Junior blood group)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23897011
NCBI chr 6:58,561,476...58,669,436
Ensembl chr 6:58,561,508...58,672,661
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Acan
aggrecan
disease_progression
ISO
CTD Direct Evidence: marker/mechanism protein:increased degradation:cartilage
CTD RGD
PMID:15292528 PMID:16507130
RGD:11570537
NCBI chr 7:78,702,974...78,764,847
Ensembl chr 7:78,703,231...78,764,847
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Ackr3
atypical chemokine receptor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19192274
NCBI chr 1:90,131,702...90,143,446
Ensembl chr 1:90,131,702...90,144,473
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Adamts4
ADAM metallopeptidase with thrombospondin type 1 motif 4
ISO
mRNA:increased expression:synovium
RGD
PMID:11801682
RGD:10043106
NCBI chr 1:171,077,698...171,089,836
Ensembl chr 1:171,077,990...171,088,206
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Adamts5
ADAM metallopeptidase with thrombospondin type 1 motif 5
ISO
protein:alternative form:synovium
RGD
PMID:11801682
RGD:10043106
NCBI chr16:85,655,045...85,698,013
Ensembl chr16:85,653,061...85,698,716
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Adipoq
adiponectin, C1Q and collagen domain containing
ISO
protein:increased expression:serum CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:12833524 PMID:21789720
RGD:5686424
NCBI chr16:22,965,286...22,976,718
Ensembl chr16:22,965,286...22,976,778
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Adora2a
adenosine A2a receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19192274
NCBI chr10:75,152,711...75,170,626
Ensembl chr10:75,152,711...75,170,618
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Adrb3
adrenergic receptor, beta 3
ISO
DNA:missense mutation:cds:p.W64R rs4994 (human)
RGD
PMID:12739037
RGD:5684893
NCBI chr 8:27,715,804...27,720,833
Ensembl chr 8:27,715,804...27,740,644
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Aff3
AF4/FMR2 family, member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20453842 PMID:23143596
NCBI chr 1:38,212,936...38,704,036
Ensembl chr 1:38,216,407...38,704,036
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Ager
advanced glycosylation end product-specific receptor
ISO
protein:decreased expression:plasma (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16385501 PMID:20541603
RGD:7244141
NCBI chr17:34,816,545...34,819,911
Ensembl chr17:34,816,836...34,819,910
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Ahr
aryl-hydrocarbon receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18617548
NCBI chr12:35,547,978...35,584,988
Ensembl chr12:35,547,973...35,585,037
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Alox5
arachidonate 5-lipoxygenase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12833524
NCBI chr 6:116,387,030...116,438,139
Ensembl chr 6:116,387,038...116,438,139
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Ang
angiogenin, ribonuclease, RNase A family, 5
ISO
RGD
PMID:12653852
RGD:6892721
NCBI chr14:51,328,607...51,339,462
Ensembl chr14:51,328,607...51,339,466
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Ankrd55
ankyrin repeat domain 55
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143596
NCBI chr13:112,424,985...112,523,391
Ensembl chr13:112,424,985...112,520,536
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Anxa3
annexin A3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22446963
NCBI chr 5:96,941,244...96,993,827
Ensembl chr 5:96,941,198...96,993,825
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Apoa4
apolipoprotein A-IV
ISO
protein:increased expression:blood serum (human)
RGD
PMID:20367977
RGD:5685646
NCBI chr 9:46,152,142...46,154,756
Ensembl chr 9:46,151,994...46,154,757
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Arid5b
AT-rich interaction domain 5B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22446963 PMID:23143596
NCBI chr10:67,928,353...68,114,596
Ensembl chr10:67,928,350...68,114,570
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Atic
5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19193698
NCBI chr 1:71,596,315...71,618,562
Ensembl chr 1:71,596,309...71,618,790
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Azgp1
alpha-2-glycoprotein 1, zinc
ISO
mRNA:decreased expression:liver
RGD
PMID:18372237
RGD:153352318
NCBI chr 5:137,979,783...137,988,495
Ensembl chr 5:137,979,782...137,988,495
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B3gnt2
UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22446963
NCBI chr11:22,784,739...22,810,336
Ensembl chr11:22,709,738...22,810,961
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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 8:105,979,270...105,981,895
Ensembl chr 8:105,979,270...105,981,785
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Baiap2l1
BAI1-associated protein 2-like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17568789
NCBI chr 5:144,201,335...144,294,922
Ensembl chr 5:144,201,336...144,294,922
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Bcl2a1b
B cell leukemia/lymphoma 2 related protein A1b
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19192274
NCBI chr 9:89,081,326...89,089,891
Ensembl chr 9:89,081,262...89,089,880
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Bdkrb2
bradykinin receptor, beta 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12833524
NCBI chr12:105,529,431...105,561,503
Ensembl chr12:105,529,485...105,561,496
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Bglap
bone gamma carboxyglutamate protein
ISO
protein:increased expression:serum
RGD
PMID:22447331 PMID:3488088
RGD:6483593 , RGD:6483600
NCBI chr 3:88,290,802...88,291,773
Ensembl chr 3:88,290,808...88,291,771
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Bgn
biglycan
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15292528
NCBI chr X:72,527,207...72,539,542
Ensembl chr X:72,527,208...72,539,539
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Blk
B lymphoid kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20453842 PMID:23143596
NCBI chr14:63,610,286...63,654,636
Ensembl chr14:63,610,285...63,654,486
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Bmp4
bone morphogenetic protein 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20008919
NCBI chr14:46,620,982...46,628,126
Ensembl chr14:46,620,977...46,628,126
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Bmp6
bone morphogenetic protein 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20008919
NCBI chr13:38,529,098...38,684,283
Ensembl chr13:38,529,083...38,684,278
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Btnl2
butyrophilin-like 2
susceptibility
ISO
DNA:SNPs: :
RGD
PMID:23364395
RGD:9685033
NCBI chr17:34,573,763...34,588,466
Ensembl chr17:34,573,796...34,588,469
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C3
complement component 3
ISO
RGD
PMID:7561187
RGD:11040775
NCBI chr17:57,510,967...57,535,136
Ensembl chr17:57,510,970...57,535,136
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C4b
complement C4B (Chido blood group)
ISO
RGD
PMID:22076784
RGD:5688263
NCBI chr17:34,947,249...34,962,876
Ensembl chr17:34,947,354...34,962,856
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Cald1
caldesmon 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15292528
NCBI chr 6:34,575,433...34,752,404
Ensembl chr 6:34,575,435...34,752,408
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Casp7
caspase 7
ISO
RGD
PMID:18785314
RGD:5684540
NCBI chr19:56,382,640...56,430,780
Ensembl chr19:56,385,561...56,430,776
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Cast
calpastatin
ISO
RGD
PMID:7706496
RGD:5683620
NCBI chr13:74,840,485...74,956,993
Ensembl chr13:74,840,487...74,956,929
G
Cat
catalase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22450443
NCBI chr 2:103,284,249...103,315,498
Ensembl chr 2:103,284,194...103,315,505
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Cav2
caveolin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17379860
NCBI chr 6:17,281,184...17,289,129
Ensembl chr 6:17,281,184...17,289,114
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Ccl2
C-C motif chemokine ligand 2
ISO
protein:increased expression:serum
RGD
PMID:20056091
RGD:4891442
NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279
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Ccl21a
C-C motif chemokine ligand 21 (serine)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18794853 PMID:20453842 PMID:23143596
NCBI chr 4:42,772,860...42,773,991
Ensembl chr 4:42,772,860...42,773,993
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Ccl22
C-C motif chemokine ligand 22
ISO
protein:increased expression:plasma:
RGD
PMID:19942450
RGD:10054497
NCBI chr 8:95,472,312...95,478,016
Ensembl chr 8:95,472,218...95,478,327
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Ccl8
C-C motif chemokine ligand 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17568789
NCBI chr11:82,006,011...82,007,625
Ensembl chr11:82,006,011...82,007,625
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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 3:145,352,726...145,355,740
Ensembl chr 3:145,352,731...145,355,736
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Ccn2
cellular communication network factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19192274
NCBI chr10:24,471,340...24,474,581
Ensembl chr10:24,471,340...24,474,581
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Ccr1
C-C motif chemokine receptor 1
ISO
RGD
PMID:12860725
RGD:5688170
NCBI chr 9:123,762,163...123,768,729
Ensembl chr 9:123,762,161...123,768,729
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Ccr3
C-C motif chemokine receptor 3
ISO
protein:increased expression:synovial fluid, neutrophil
RGD
PMID:19017998
RGD:4145632
NCBI chr 9:123,817,799...123,831,729
Ensembl chr 9:123,822,009...123,831,726
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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 chr 9:114,319,384...114,334,544
Ensembl chr 9:114,319,384...114,333,984
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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:1626290 , RGD:1626283
NCBI chr 9:123,921,557...123,934,153
Ensembl chr 9:123,921,580...123,947,736
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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 chr17:8,454,875...8,477,353
Ensembl chr17:8,454,875...8,475,973
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Cd2
CD2 antigen
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143596
NCBI chr 3:101,183,224...101,195,255
Ensembl chr 3:101,183,215...101,195,255
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Cd244a
CD244 molecule A
susceptibility
ISO
ClinVar Annotator: match by term: Rheumatoid arthritis CTD Direct Evidence: marker/mechanism
ClinVar OMIM CTD
PMID:18794858
NCBI chr 1:171,386,287...171,412,884
Ensembl chr 1:171,386,761...171,437,314
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Cd28
CD28 antigen
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19898481 PMID:20453842 PMID:23143596 PMID:19075187
RGD:5131619
NCBI chr 1:60,785,547...60,812,521
Ensembl chr 1:60,755,959...60,812,518
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Cd3e
CD3 antigen, epsilon polypeptide
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12833524
NCBI chr 9:44,910,033...44,920,961
Ensembl chr 9:44,910,038...44,920,925
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Cd40
CD40 antigen
ISO
DNA:SNP: :rs4810485 (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:18794853 PMID:20453842 PMID:23143596 PMID:20498205
RGD:5490972
NCBI chr 2:164,897,535...164,913,574
Ensembl chr 2:164,897,547...164,914,868
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Cd5
CD5 antigen
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143596
NCBI chr19:10,695,471...10,716,390
Ensembl chr19:10,694,480...10,716,366
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Cd80
CD80 antigen
ISO
protein:increased expression:serum
RGD
PMID:22917707
RGD:6893647
NCBI chr16:38,277,793...38,316,682
Ensembl chr16:38,275,923...38,316,697
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Cd83
CD83 antigen
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22446963
NCBI chr13:43,938,588...43,956,609
Ensembl chr13:43,938,251...43,956,608
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Cdk6
cyclin dependent kinase 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18794853
NCBI chr 5:3,391,004...3,581,008
Ensembl chr 5:3,391,485...3,581,008
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Cebpb
CCAAT/enhancer binding protein beta
ISO
protein:increased expression:knee, articular cartilage (human)
RGD
PMID:19248099
RGD:10401213
NCBI chr 2:167,530,835...167,532,352
Ensembl chr 2:167,530,835...167,532,338
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Chi3l1
chitinase 3 like 1
severity
ISO
protein:increased secretion:serum (human)
RGD
PMID:10461474
RGD:4892605
NCBI chr 1:134,109,894...134,117,769
Ensembl chr 1:134,109,914...134,117,919
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Chrna7
cholinergic receptor, nicotinic, alpha polypeptide 7
ISO
mRNA,protein:increased expression:joint, spleen:
RGD
PMID:31279484
RGD:151676715
NCBI chr 7:62,748,440...62,862,274
Ensembl chr 7:62,748,440...62,862,317
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Chrng
cholinergic receptor, nicotinic, gamma polypeptide
ISO
ClinVar Annotator: match by term: Rheumatoid arthritis
ClinVar
PMID:23261301 PMID:25741868
NCBI chr 1:87,133,533...87,139,365
Ensembl chr 1:87,132,379...87,140,416
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Ciita
class II transactivator
susceptibility no_association
ISO
DNA:haplotype:promoter/CDS:rs3087456G/rs4774C (human) CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Rheumatoid arthritis DNA:polymorphism:promoter:-168A>G (human) DNA:polymorphism:promoter:rs3087456, no association in a German cohort (Human)
OMIM CTD ClinVar RGD
PMID:15821736 PMID:16849401 PMID:25741868 PMID:28492532 PMID:19221398 PMID:15821736 PMID:16426246 More...
RGD:5491176 , RGD:1358146 , RGD:5491189
NCBI chr16:10,297,877...10,348,928
Ensembl chr16:10,297,923...10,346,282
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Clec12a
C-type lectin domain family 12, member a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17568789
NCBI chr 6:129,327,207...129,342,266
Ensembl chr 6:129,319,654...129,342,266
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Clec16a
C-type lectin domain family 16, member A
ISO
DNA:polymorphism:intron:rs6498169G (human)
RGD
PMID:19221398
RGD:5491176
NCBI chr16:10,363,173...10,562,742
Ensembl chr16:10,363,203...10,562,742
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Col2a1
collagen, type II, alpha 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27028940 PMID:29935983
NCBI chr15:97,873,483...97,902,525
Ensembl chr15:97,873,483...97,902,576
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Cp
ceruloplasmin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26001728
NCBI chr 3:20,011,097...20,063,914
Ensembl chr 3:20,011,218...20,063,309
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Crp
C-reactive protein, pentraxin-related
ISO
protein:increased expression:serum CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:1568518 PMID:22173958 PMID:22173958
RGD:6904209 , RGD:6904209
NCBI chr 1:172,525,623...172,527,533
Ensembl chr 1:172,525,622...172,660,598
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Csf2
colony stimulating factor 2 (granulocyte-macrophage)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22446963
NCBI chr11:54,138,096...54,140,725
Ensembl chr11:54,138,097...54,140,493
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Ctla4
cytotoxic T-lymphocyte-associated protein 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20453842 PMID:23143596
NCBI chr 1:60,948,184...60,954,991
Ensembl chr 1:60,926,159...60,954,991
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Ctsd
cathepsin D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12833524
NCBI chr 7:141,929,647...141,941,564
Ensembl chr 7:141,929,648...141,941,775
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Cx3cl1
C-X3-C motif chemokine ligand 1
ISO
RGD
PMID:11465708
RGD:4892002
NCBI chr 8:95,498,808...95,509,055
Ensembl chr 8:95,498,637...95,509,055
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Cxcl15
C-X-C motif chemokine ligand 15
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17379860 PMID:19192274
NCBI chr 5:90,942,393...90,950,926
Ensembl chr 5:90,942,393...90,950,926
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Cxcl2
C-X-C motif chemokine ligand 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15292528
NCBI chr 5:91,051,758...91,053,797
Ensembl chr 5:91,051,730...91,053,797
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Cxcl5
C-X-C motif chemokine ligand 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15292528
NCBI chr 5:90,907,157...90,909,484
Ensembl chr 5:90,907,219...90,909,483
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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:100,775,141...100,777,753
Ensembl chr X:100,775,141...100,777,875
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Cxcr4
C-X-C motif chemokine receptor 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19192274
NCBI chr 1:128,515,936...128,520,036
Ensembl chr 1:128,515,936...128,520,030
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Cybb
cytochrome b-245, beta polypeptide
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24313545
NCBI chr X:9,301,493...9,354,005
Ensembl chr X:9,301,491...9,354,010
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Ddit4
DNA-damage-inducible transcript 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17379860
NCBI chr10:59,785,497...59,787,592
Ensembl chr10:59,785,491...59,787,656
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Ddx6
DEAD-box helicase 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143596
NCBI chr 9:44,514,113...44,552,028
Ensembl chr 9:44,516,189...44,552,028
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Dhfr
dihydrofolate reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23897011
NCBI chr13:92,491,291...92,525,561
Ensembl chr13:92,491,234...92,525,561
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Dnase1l3
deoxyribonuclease 1-like 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143596 PMID:30224649
NCBI chr14:14,475,014...14,504,586
Ensembl chr14:14,475,200...14,505,240
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Dnase2a
deoxyribonuclease II alpha
IAGP
OMIM:180300
MouseDO
NCBI chr 8:85,635,384...85,638,332
Ensembl chr 8:85,635,189...85,649,544
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Dnmt1
DNA methyltransferase 1
severity
ISO
mRNA:increased expression:mononuclear cell
RGD
PMID:20937307
RGD:9588623
NCBI chr 9:20,818,501...20,871,084
Ensembl chr 9:20,818,505...20,871,184
G
Dnmt3b
DNA methyltransferase 3B
disease_progression
ISO
DNA:polymorphism:promoter:-283C>T(human)
RGD
PMID:19777235
RGD:9589110
NCBI chr 2:153,491,332...153,529,650
Ensembl chr 2:153,491,370...153,529,650
G
Edn1
endothelin 1
treatment
ISO
RGD
PMID:22249931
RGD:8661695
NCBI chr13:42,454,952...42,461,466
Ensembl chr13:42,454,952...42,461,466
G
Eln
elastin
ISO
RGD
PMID:12643515
RGD:9585739
NCBI chr 5:134,731,449...134,776,300
Ensembl chr 5:134,731,447...134,776,177
G
Eno1
enolase 1, alpha non-neuron
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19898480
NCBI chr 4:150,321,165...150,333,336
Ensembl chr 4:150,321,178...150,333,336
G
Epas1
endothelial PAS domain protein 1
ISO
protein:increased expression:layer of synovial tissue, stromal cell
RGD
PMID:12823854
RGD:10395366
NCBI chr17:87,061,292...87,140,838
Ensembl chr17:87,061,128...87,140,838
G
Esco2
establishment of sister chromatid cohesion N-acetyltransferase 2
ISO
mRNA:increased expression:peripheral blood mononuclear cell
RGD
PMID:36104638
RGD:155791669
NCBI chr14:66,056,476...66,071,418
Ensembl chr14:66,056,487...66,071,443
G
Esr2
estrogen receptor 2 (beta)
severity
ISO
DNA:SNP:exon:rs1256049(human)
RGD
PMID:21523342
RGD:5508794
NCBI chr12:76,167,193...76,224,033
Ensembl chr12:76,167,193...76,224,033
G
F2
coagulation factor II
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26001728
NCBI chr 2:91,442,742...91,466,799
Ensembl chr 2:91,455,665...91,466,759
G
Fas
Fas cell surface death receptor
susceptibility
ISO
DNA:snp:promoter:g.-670A>G (human) protein:increased expression:serum (human)
RGD
PMID:23053964 PMID:20875116 PMID:12148596
RGD:8662433 , RGD:12903969 , RGD:8662455
NCBI chr19:34,267,926...34,305,175
Ensembl chr19:34,268,066...34,305,172
G
Fasl
Fas ligand
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20008919
NCBI chr 1:161,608,260...161,616,064
Ensembl chr 1:161,608,258...161,616,064
G
Fcgr1
Fc receptor, IgG, high affinity I
ISO
protein:increased expression:synovial joint:
RGD
PMID:16670289
RGD:9685708
NCBI chr 3:96,190,225...96,201,285
Ensembl chr 3:96,190,225...96,201,285
G
Fcgr4
Fc receptor, IgG, low affinity IV
susceptibility
ISO
DNA:polymorphism:exon:p.F158V(rs396991)(human) DNA:CNVs protein:decreased expression:NK cell
RGD
PMID:19019892 PMID:25154742 PMID:15334114
RGD:5508391 , RGD:11344974 , RGD:5508467
NCBI chr 1:170,846,495...170,857,330
Ensembl chr 1:170,846,489...170,857,330
G
Fkbp5
FK506 binding protein 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12833524
NCBI chr17:28,617,727...28,705,123
Ensembl chr17:28,618,068...28,736,501
G
Foxo3
forkhead box O3
ISO
mRNA,protein:increased expression:peripheral blood mononuclear cell, polymorphonuclear cell,synovium:
RGD
PMID:19435720
RGD:10402186
NCBI chr10:42,057,841...42,152,691
Ensembl chr10:42,057,837...42,152,751
G
Foxp3
forkhead box P3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20476861
NCBI chr X:7,445,915...7,461,482
Ensembl chr X:7,439,883...7,461,484
G
Fpgs
folylpolyglutamyl synthetase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23897011
NCBI chr 2:32,572,621...32,594,208
Ensembl chr 2:32,572,621...32,594,157
G
Gart
phosphoribosylglycinamide formyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23897011
NCBI chr16:91,418,283...91,444,505
Ensembl chr16:91,418,074...91,443,840
G
Gata3
GATA binding protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143596
NCBI chr 2:9,861,889...9,894,845
Ensembl chr 2:9,861,889...9,894,845
G
Gc
vitamin D binding protein
ISO
protein:decreased expression:plasma CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:3874814 PMID:9548303
RGD:5509931
NCBI chr 5:89,565,370...89,605,757
Ensembl chr 5:89,565,381...89,605,757
G
Gdf5
growth differentiation factor 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18830904
NCBI chr 2:155,782,943...155,787,204
Ensembl chr 2:155,782,943...155,787,287
G
Ggh
gamma-glutamyl hydrolase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23897011
NCBI chr 4:20,041,963...20,066,111
Ensembl chr 4:20,042,052...20,066,750
G
Gin1
gypsy retrotransposon integrase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143596
NCBI chr 1:97,697,894...97,721,435
Ensembl chr 1:97,697,897...97,721,434
G
Gprc5a
G protein-coupled receptor, family C, group 5, member A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17379860
NCBI chr 6:135,042,660...135,061,707
Ensembl chr 6:135,042,649...135,061,707
G
Grk2
G protein-coupled receptor kinase 2
IAGP ISO
DNA: deletion: : heterozygous protein: decreased expression: mononuclear cells CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:10094932 PMID:18662895 PMID:10094932
RGD:5688373 , RGD:5688380
NCBI chr19:4,336,027...4,356,350
Ensembl chr19:4,336,029...4,356,250
G
Grk5
G protein-coupled receptor kinase 5
no_association
IAGP ISO
DNA: deletion::GRK2 and GRK6 deletions resulted in more severe arthritis protein: decreased expression: mononuclear leukocytes
RGD
PMID:18662895 PMID:10094932
RGD:5688373 , RGD:5688380
NCBI chr19:60,877,995...61,084,406
Ensembl chr19:60,878,187...61,084,406
G
Grk6
G protein-coupled receptor kinase 6
IAGP ISO
DNA: deletion: : homozygous CTD Direct Evidence: marker/mechanism protein: decreased expression: mononuclear cells
CTD RGD
PMID:10094932 PMID:18662895 PMID:10094932
RGD:5688373 , RGD:5688380
NCBI chr13:55,592,865...55,608,740
Ensembl chr13:55,592,885...55,608,740
G
Gsdme
gasdermin E
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17379860
NCBI chr 6:50,167,013...50,240,837
Ensembl chr 6:50,165,868...50,240,842
G
Gstm1
glutathione S-transferase, mu 1
susceptibility
ISO
DNA:deletion: : DNA:deletion: :
RGD
PMID:16887863 PMID:16870093 PMID:15940757
RGD:5490993 , RGD:5490994 , RGD:5490998
NCBI chr 3:107,919,566...107,925,289
Ensembl chr 3:107,919,571...107,925,289
G
Gstt1
glutathione S-transferase, theta 1
severity susceptibility
ISO
DNA:deletion: :
RGD
PMID:19473562 PMID:20401725 PMID:20597111
RGD:5490553 , RGD:5490983 , RGD:5490982
NCBI chr10:75,619,647...75,634,418
Ensembl chr10:75,619,647...75,634,418
G
H2-Aa
histocompatibility 2, class II antigen A, alpha
ISO
DNA:polymorphisms DNA:polymorphism (human)
RGD
PMID:11482129 PMID:11454644
RGD:5147859 , RGD:5147860
NCBI chr17:34,501,718...34,506,797
Ensembl chr17:34,501,718...34,506,797
G
H2-Ab1
histocompatibility 2, class II antigen A, beta 1
ISO
DNA:polymorphism (human)
RGD
PMID:11454644
RGD:5147860
NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393
G
H2-Eb1
histocompatibility 2, class II antigen E beta
susceptibility
ISO
DNA:polymorphisms: :multiple (human) CTD Direct Evidence: marker/mechanism DNA:polymorphism (human) DNA:polymorphisms (human)
CTD RGD
PMID:19898480 PMID:20453842 PMID:22286218 PMID:21246357 PMID:11454644 PMID:19117368 More...
RGD:5147567 , RGD:5147860 , RGD:5147616
NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648
G
Hapln1
hyaluronan and proteoglycan link protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17568789
NCBI chr13:89,688,654...89,759,951
Ensembl chr13:89,687,915...89,759,771
G
Hcls1
hematopoietic cell specific Lyn substrate 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12833524
NCBI chr16:36,755,345...36,783,576
Ensembl chr16:36,755,345...36,783,574
G
Hdac1
histone deacetylase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:32289289
NCBI chr 4:129,409,897...129,436,516
Ensembl chr 4:129,409,897...129,436,506
G
Hfe
homeostatic iron regulator
ISO
DNA:missense mutation: :p.C282Y (rs1800562) (human)
RGD
PMID:30651232
RGD:14746965
NCBI chr13:23,886,017...23,894,837
Ensembl chr13:23,886,017...23,894,837
G
Hgf
hepatocyte growth factor
disease_progression
ISO
protein:increased expression:serum:
RGD
PMID:24387171
RGD:8548659
NCBI chr 5:16,758,493...16,827,448
Ensembl chr 5:16,758,493...16,825,150
G
Hif1a
hypoxia inducible factor 1, alpha subunit
ISO
protein:increased expression:layer of synovial tissue, stromal cell
RGD
PMID:12823854
RGD:10395366
NCBI chr12:73,948,098...73,994,328
Ensembl chr12:73,948,149...73,994,304
G
Hnrnpa2b1
heterogeneous nuclear ribonucleoprotein A2/B1
severity
ISO
RGD
PMID:18025202
RGD:9685481
NCBI chr 6:51,437,414...51,448,054
Ensembl chr 6:51,437,912...51,446,874
G
Hoxd10
homeobox D10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17568789
NCBI chr 2:74,514,617...74,525,450
Ensembl chr 2:74,522,268...74,525,449
G
Hoxd11
homeobox D11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17568789
NCBI chr 2:74,509,902...74,517,360
Ensembl chr 2:74,509,901...74,517,360
G
Hoxd13
homeobox D13
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17568789
NCBI chr 2:74,498,569...74,501,947
Ensembl chr 2:74,498,654...74,501,943
G
Hsd11b1
hydroxysteroid 11-beta dehydrogenase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19192274
NCBI chr 1:192,903,948...192,946,353
Ensembl chr 1:192,903,942...192,946,383
G
Hsp90aa1
heat shock protein 90, alpha (cytosolic), class A member 1
ISO
mRNA:increased expression:peripheral blood leukocyte:
RGD
PMID:21417552
RGD:10402843
NCBI chr12:110,657,470...110,662,829
Ensembl chr12:110,657,039...110,669,162
G
Hspa4
heat shock protein 4
ISO
protein:increased expression:peripheral blood lymphocyte (human)
RGD
PMID:22047640
RGD:5688784
NCBI chr11:53,150,641...53,191,306
Ensembl chr11:53,150,641...53,191,284
G
Hspa5
heat shock protein 5
ISO
protein:increased expression:synovial joint
RGD
PMID:11315915
RGD:5685639
NCBI chr 2:34,662,102...34,666,541
Ensembl chr 2:34,661,982...34,667,559
G
Hspa9
heat shock protein 9
ISO
protein:increased expression:synovial cell:
RGD
PMID:23739258
RGD:10402561
NCBI chr18:35,070,467...35,087,404
Ensembl chr18:35,070,467...35,087,410
G
Hspb1
heat shock protein 1
ISO
protein:increased expression:serum:
RGD
PMID:21417552
RGD:10402843
NCBI chr 5:135,916,773...135,918,417
Ensembl chr 5:135,916,773...135,918,417
G
Hspd1
heat shock protein 1 (chaperonin)
ISO
mRNA:increased expression:peripheral blood leukocyte:
RGD
PMID:21417552
RGD:10402843
NCBI chr 1:55,116,992...55,127,402
Ensembl chr 1:55,116,994...55,127,402
G
Ifng
interferon gamma
treatment
ISO
mRNA:increased expression:synovial (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:22450443 PMID:1417133 PMID:22660635
RGD:8157623 , RGD:155663483
NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797
G
Igf2
insulin-like growth factor 2
ISO
DNA:loss of imprinting:synovial cell protein:decreased expression:plasma
RGD
PMID:19556211 PMID:11247331
RGD:5510001 , RGD:5510014
NCBI chr 7:142,204,505...142,220,566
Ensembl chr 7:142,204,503...142,220,553
G
Igfbp3
insulin-like growth factor binding protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17379860
NCBI chr11:7,156,086...7,165,498
Ensembl chr11:7,156,086...7,163,923
G
Ikzf3
IKAROS family zinc finger 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143596
NCBI chr11:98,355,436...98,437,157
Ensembl chr11:98,355,728...98,436,857
G
Il10
interleukin 10
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: RHEUMATOID ARTHRITIS, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Rheumatoid arthritis, progression of
CTD OMIM ClinVar
PMID:12847677 PMID:22450443 PMID:25741868 PMID:28492532
NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711
G
Il13
interleukin 13
ISO
protein:increased expression:serum
RGD
PMID:12051401
RGD:8549582
NCBI chr11:53,522,150...53,525,529
Ensembl chr11:53,522,151...53,525,529
G
Il17a
interleukin 17A
treatment
ISO
mRNA:increased expression:synovial (human)
RGD
PMID:20926833 PMID:22660635
RGD:9068415 , RGD:155663483
NCBI chr 1:20,801,129...20,804,720
Ensembl chr 1:20,801,129...20,804,720
G
Il18
interleukin 18
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16368150
NCBI chr 9:50,466,000...50,493,141
Ensembl chr 9:50,466,127...50,493,140
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 1:130,860,393...130,873,194
Ensembl chr 1:130,860,393...130,867,852
G
Il1a
interleukin 1 alpha
severity
ISO
associated with lung disease, interstitial protein:increased expression:plasma, synovial fluid
RGD
PMID:11192540 PMID:8162643
RGD:4142818 , RGD:7794716
NCBI chr 2:129,141,530...129,151,892
Ensembl chr 2:129,141,530...129,151,892
G
Il1b
interleukin 1 beta
ISO
protein:decreased expression:serum mRNA:increased expression:synovial (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:12566094 PMID:17379860 PMID:22450443 PMID:22414257 PMID:22660635
RGD:6482656 , RGD:155663483
NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059
G
Il1rn
interleukin 1 receptor antagonist
ISO IMP
CTD Direct Evidence: marker/mechanism|therapeutic
CTD RGD
PMID:7706905 PMID:19192274 PMID:19447938 PMID:10637275
RGD:7174696 , RGD:8549810
NCBI chr 2:24,226,872...24,241,503
Ensembl chr 2:24,226,865...24,241,506
G
Il2
interleukin 2
ISO
RGD
PMID:6421522
RGD:8662948
NCBI chr 3:37,174,862...37,180,103
Ensembl chr 3:37,174,672...37,180,108
G
Il20
interleukin 20
ISO
RGD
PMID:16947773
RGD:5147395
NCBI chr 1:130,834,722...130,839,033
Ensembl chr 1:130,834,722...130,839,188
G
Il21r
interleukin 21 receptor
IMP
RGD
PMID:19342640
RGD:6892964
NCBI chr 7:125,202,424...125,232,742
Ensembl chr 7:125,202,601...125,232,742
G
Il23a
interleukin 23, alpha subunit p19
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19192274
NCBI chr10:128,132,009...128,133,953
Ensembl chr10:128,132,008...128,134,621
G
Il23r
interleukin 23 receptor
susceptibility
ISO
DNA:SNP::rs1343151(human)
RGD
PMID:18647855
RGD:8549596
NCBI chr 6:67,399,906...67,468,838
Ensembl chr 6:67,399,916...67,468,839
G
Il2ra
interleukin 2 receptor, alpha chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20453842 PMID:20476861 PMID:23143596
NCBI chr 2:11,647,603...11,698,005
Ensembl chr 2:11,647,618...11,698,004
G
Il2rb
interleukin 2 receptor, beta chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20453842 PMID:23143596
NCBI chr15:78,363,456...78,396,569
Ensembl chr15:78,363,456...78,379,471
G
Il3
interleukin 3
ISO
DNA: SNPs: Multiple: gene-gene interaction
RGD
PMID:20018070
RGD:5686905
NCBI chr11:54,155,911...54,158,105
Ensembl chr11:54,156,129...54,158,103
G
Il4ra
interleukin 4 receptor, alpha
severity
ISO
DNA:SNP: :rs1805010 (human)
RGD
PMID:24782180
RGD:10402783
NCBI chr 7:125,151,443...125,178,646
Ensembl chr 7:125,151,292...125,178,646
G
Il5
interleukin 5
ISO
RGD
PMID:22293286
RGD:5687156
NCBI chr11:53,611,621...53,615,930
Ensembl chr11:53,611,621...53,615,933
G
Il6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19192274 PMID:22450443
NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979
G
Il6ra
interleukin 6 receptor, alpha
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
PMID:16729287 PMID:23143596
NCBI chr 3:89,776,631...89,820,503
Ensembl chr 3:89,771,366...89,820,503
G
Il6st
interleukin 6 signal transducer
ISO IAGP
CTD Direct Evidence: marker/mechanism OMIM:180300
CTD MouseDO
PMID:20453842
NCBI chr13:112,600,604...112,643,394
Ensembl chr13:112,600,604...112,646,620
G
Irak1
interleukin-1 receptor-associated kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143596
NCBI chr X:73,057,520...73,067,527
Ensembl chr X:73,057,520...73,067,524
G
Irf5
interferon regulatory factor 5
ISO
ClinVar Annotator: match by term: Rheumatoid arthritis CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:15657875 PMID:16642019 PMID:17599733 PMID:18063667 PMID:20453842 PMID:23143596 PMID:29379122 PMID:29352853 More...
RGD:40924627 , RGD:40924559
NCBI chr 6:29,526,129...29,541,874
Ensembl chr 6:29,526,624...29,541,870
G
Irf8
interferon regulatory factor 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143596
NCBI chr 8:121,463,097...121,483,433
Ensembl chr 8:121,463,097...121,483,433
G
Itga6
integrin alpha 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17379860
NCBI chr 2:71,617,236...71,688,761
Ensembl chr 2:71,575,960...71,688,760
G
Itpa
inosine triphosphatase (nucleoside triphosphate pyrophosphatase)
treatment
ISO
DNA:SNP: :94C>A(human)
RGD
PMID:29441893
RGD:14975307
NCBI chr 2:130,506,702...130,523,534
Ensembl chr 2:130,509,530...130,523,534
G
Jak2
Janus kinase 2
IMP
RGD
PMID:21510883
RGD:6483024
NCBI chr19:29,229,006...29,290,495
Ensembl chr19:29,229,228...29,290,480
G
Kat2b
K(lysine) acetyltransferase 2B
ISO
mRNA:increased expression:peripheral blood mononuclear cell
RGD
PMID:36104638
RGD:155791669
NCBI chr17:53,873,802...53,979,749
Ensembl chr17:53,873,889...53,979,748
G
Kif5a
kinesin family member 5A
susceptibility
ISO
CTD Direct Evidence: marker/mechanism DNA:snps:intron, 3' utr:c.2756-43A>C, c.*776C>T (rs775246, rs775251) (human) DNA:snp:intron:c.1717-152C>G (rs1678542) (human)
CTD RGD
PMID:23143596 PMID:21784728 PMID:23378462
RGD:12793073 , RGD:12793072
NCBI chr10:127,061,564...127,102,217
Ensembl chr10:127,061,565...127,099,217
G
Kmt2c
lysine (K)-specific methyltransferase 2C
treatment
ISO
RGD
PMID:33914205
RGD:151356764
NCBI chr 5:25,476,793...25,703,853
Ensembl chr 5:25,476,796...25,703,781
G
Lcn2
lipocalin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7554268
NCBI chr 2:32,274,649...32,277,751
Ensembl chr 2:32,274,645...32,278,264
G
Lhx2
LIM homeobox protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17568789
NCBI chr 2:38,229,226...38,259,749
Ensembl chr 2:38,229,293...38,259,745
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Lrrk2
leucine-rich repeat kinase 2
ISO
RGD
PMID:17082220
RGD:5508419
NCBI chr15:91,556,994...91,700,327
Ensembl chr15:91,557,378...91,700,323
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Ly96
lymphocyte antigen 96
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17379860
NCBI chr 1:16,758,680...16,779,829
Ensembl chr 1:16,758,275...16,779,835
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Mab21l2
mab-21-like 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17568789
NCBI chr 3:86,453,357...86,455,590
Ensembl chr 3:86,452,888...86,455,590
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Malat1
metastasis associated lung adenocarcinoma transcript 1 (non-coding RNA)
ISO
mRNA:increased expression:cartilage tissue (human)
RGD
PMID:31472145
RGD:152177908
NCBI chr19:5,845,718...5,852,700
Ensembl chr19:5,845,717...5,852,706
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Marcks
myristoylated alanine rich protein kinase C substrate
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19192274
NCBI chr10:37,009,239...37,014,922
Ensembl chr10:37,009,371...37,014,916
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Mbd2
methyl-CpG binding domain protein 2
ISO
mRNA:increased expression:mononuclear cell
RGD
PMID:20937307
RGD:9588623
NCBI chr18:70,701,298...70,761,769
Ensembl chr18:70,701,260...70,759,202
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Mbd4
methyl-CpG binding domain protein 4
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 chr 6:115,817,658...115,830,361
Ensembl chr 6:115,817,658...115,830,332
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Mdk
midkine
IAGP
RGD
PMID:15146411
RGD:1581200
NCBI chr 2:91,760,149...91,762,348
Ensembl chr 2:91,760,150...91,762,642
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Mgarp
mitochondria localized glutamic acid rich protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17568789
NCBI chr 3:51,295,833...51,303,968
Ensembl chr 3:51,295,833...51,304,159
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Mif
macrophage migration inhibitory factor (glycosylation-inhibiting factor)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16872482
NCBI chr10:75,695,187...75,696,111
Ensembl chr10:75,695,187...75,696,074
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Mir146
microRNA 146
ISO
mRNA:decreased expression:cartilage tissue (human) mRNA:increased expression:synovial (human)
RGD
PMID:31472145 PMID:22660635
RGD:152177908 , RGD:155663483
NCBI chr11:43,265,224...43,265,288
Ensembl chr11:43,265,224...43,265,288
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Mir23b
microRNA 23b
ISO
mRNA, protein:decreased expression:synovial (human)
RGD
PMID:22660635
RGD:155663483
NCBI chr13:63,448,298...63,448,371
Ensembl chr13:63,448,298...63,448,371
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Mmel1
membrane metallo-endopeptidase-like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143596
NCBI chr 4:154,954,042...154,979,987
Ensembl chr 4:154,954,042...154,979,985
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Mmp10
matrix metallopeptidase 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19192274
NCBI chr 9:7,502,343...7,510,243
Ensembl chr 9:7,502,353...7,510,241
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Mmp12
matrix metallopeptidase 12
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19192274
NCBI chr 9:7,344,397...7,360,461
Ensembl chr 9:7,344,381...7,369,499
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Mmp14
matrix metallopeptidase 14 (membrane-inserted)
IAGP
OMIM:180300
MouseDO
NCBI chr14:54,669,055...54,679,913
Ensembl chr14:54,669,069...54,682,821
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Mmp1a
matrix metallopeptidase 1a (interstitial collagenase)
ISO
protein:increased expression:plasma (human)
RGD
PMID:9972954
RGD:7207129
NCBI chr 9:7,464,141...7,476,870
Ensembl chr 9:7,464,141...7,476,857
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Mmp1b
matrix metallopeptidase 1b (interstitial collagenase)
ISO
protein:increased expression:plasma (human)
RGD
PMID:9972954
RGD:7207129
NCBI chr 9:7,367,670...7,388,026
Ensembl chr 9:7,368,239...7,388,047
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Mmp2
matrix metallopeptidase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16872482
NCBI chr 8:93,553,920...93,580,049
Ensembl chr 8:93,553,919...93,580,048
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Mmp3
matrix metallopeptidase 3
disease_progression
ISO
protein:increased expression:serum (human)
RGD
PMID:7639798 PMID:22314025 PMID:11796404
RGD:7207128 , RGD:8693673 , RGD:7241254
NCBI chr 9:7,445,822...7,455,975
Ensembl chr 9:7,445,822...7,455,975
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Mmp8
matrix metallopeptidase 8
ISO
protein:increased expression:synovial fluid, serum (human)
RGD
PMID:15194590
RGD:7207131
NCBI chr 9:7,558,430...7,568,487
Ensembl chr 9:7,558,457...7,568,486
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Mmp9
matrix metallopeptidase 9
ISO
RGD
PMID:16406300
RGD:1582623
NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770
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Mpo
myeloperoxidase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22450443 PMID:26001728
NCBI chr11:87,684,610...87,695,238
Ensembl chr11:87,684,407...87,695,239
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mt-Nd1
NADH dehydrogenase 1, mitochondrial
ISO
DNA:missense mutations:cds:multiple (human)
RGD
PMID:15987486
RGD:5490238
NCBI chr MT:2,751...3,707
Ensembl chr MT:2,751...3,707
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Mthfr
methylenetetrahydrofolate reductase
ISO
DNA:SNP: :677C>T(human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:22104130 PMID:23685257
RGD:7387222
NCBI chr 4:148,123,534...148,144,019
Ensembl chr 4:148,123,534...148,144,008
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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:28135245 PMID:21275845
RGD:41404729
NCBI chr 5:134,248,907...134,258,479
Ensembl chr 5:134,248,907...134,258,479
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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 1:152,675,904...152,712,741
Ensembl chr 1:152,675,945...152,712,742
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Ncf4
neutrophil cytosolic factor 4
ISO
DNA:polymorphism, SNP:cds (rs729749) (human)
RGD
PMID:17897462
RGD:41404710
NCBI chr15:78,128,324...78,146,782
Ensembl chr15:78,129,001...78,146,780
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Ndufa4l2
Ndufa4, mitochondrial complex associated like 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19192274
NCBI chr10:127,345,143...127,353,023
Ensembl chr10:127,350,836...127,353,023
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Nfkbie
nuclear factor of kappa light polypeptide gene enhancer in B cells inhibitor, epsilon
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22446963
NCBI chr17:45,866,626...45,874,095
Ensembl chr17:45,866,629...45,874,095
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Nfkbil1
nuclear factor of kappa light polypeptide gene enhancer in B cells inhibitor like 1
susceptibility
ISO
ClinVar Annotator: match by term: Rheumatoid arthritis CTD Direct Evidence: marker/mechanism DNA:snp:promoter:c.-132T>A (rs2071592) (human)
ClinVar CTD OMIM RGD
PMID:12509789 PMID:12509789
RGD:1331681
NCBI chr17:35,439,151...35,455,457
Ensembl chr17:35,439,151...35,454,768
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Notch4
notch 4
ISO
mRNA : increased expression: : cd4+ cells
RGD
PMID:20132067
RGD:6480790
NCBI chr17:34,783,257...34,807,517
Ensembl chr17:34,783,242...34,807,477
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Npsr1
neuropeptide S receptor 1
ISO
RGD
PMID:20179762
RGD:4891930
NCBI chr 9:24,009,212...24,229,151
Ensembl chr 9:24,009,292...24,227,694
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Nr3c1
nuclear receptor subfamily 3, group C, member 1
ISO
mRNA:increased expression:paw
RGD
PMID:18448865
RGD:4892311
NCBI chr18:39,543,598...39,652,485
Ensembl chr18:39,543,598...39,652,474
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Nr4a3
nuclear receptor subfamily 4, group A, member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19192274
NCBI chr 4:48,045,098...48,086,446
Ensembl chr 4:48,045,153...48,086,447
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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 chr10:6,708,593...6,988,209
Ensembl chr10:6,708,506...6,988,198
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Padi2
peptidyl arginine deiminase, type II
ISO
ClinVar Annotator: match by term: Rheumatoid arthritis
ClinVar
NCBI chr 4:140,633,648...140,679,897
Ensembl chr 4:140,633,655...140,679,897
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Padi4
peptidyl arginine deiminase, type IV
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Rheumatoid arthritis
CTD ClinVar
PMID:23143596
NCBI chr 4:140,472,819...140,501,514
Ensembl chr 4:140,473,176...140,501,547
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Pdgfb
platelet derived growth factor, B polypeptide
ISO
RGD
PMID:1708827
RGD:6482653
NCBI chr15:79,880,066...79,899,178
Ensembl chr15:79,880,075...79,899,178
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Pgf
placental growth factor
ISO
RGD
PMID:19180491
RGD:6483591
NCBI chr12:85,213,411...85,224,559
Ensembl chr12:85,213,409...85,224,564
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Pik3r1
phosphoinositide-3-kinase regulatory subunit 1
ISO
mRNA:increased expression:cartilage tissue (human)
RGD
PMID:31472145
RGD:152177908
NCBI chr13:101,817,269...101,904,725
Ensembl chr13:101,817,071...101,904,725
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Pla2g7
phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)
ISO
RGD
PMID:17326817
RGD:6482776
NCBI chr17:43,878,885...43,923,093
Ensembl chr17:43,878,989...43,923,092
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Plaur
plasminogen activator, urokinase receptor
ISO
RGD
PMID:22011479
RGD:6484117
NCBI chr 7:24,161,857...24,175,393
Ensembl chr 7:24,161,909...24,175,393
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Plb1
phospholipase B1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24520335
NCBI chr 5:32,390,035...32,521,700
Ensembl chr 5:32,390,052...32,523,864
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Pld4
phospholipase D family member 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22446963
NCBI chr12:112,727,089...112,735,420
Ensembl chr12:112,727,089...112,735,424
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Plek
pleckstrin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12833524
NCBI chr11:16,921,206...16,958,718
Ensembl chr11:16,921,206...17,002,381
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Pon1
paraoxonase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16055108
NCBI chr 6:5,168,101...5,193,824
Ensembl chr 6:5,168,090...5,193,946
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Pou3f1
POU domain, class 3, transcription factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143596
NCBI chr 4:124,551,439...124,554,448
Ensembl chr 4:124,550,600...124,554,448
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Prdm1
PR domain containing 1, with ZNF domain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19898481 PMID:20453842 PMID:23143596 PMID:36181686
NCBI chr10:44,313,170...44,404,579
Ensembl chr10:44,313,173...44,404,497
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Prkcq
protein kinase C, theta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18794853 PMID:20453842 PMID:23143596
NCBI chr 2:11,176,922...11,306,033
Ensembl chr 2:11,176,919...11,306,033
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Ptgs1
prostaglandin-endoperoxide synthase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15167967
NCBI chr 2:36,106,758...36,142,287
Ensembl chr 2:36,120,438...36,142,284
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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 1:149,975,851...149,983,978
Ensembl chr 1:149,975,782...149,983,978
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Ptk2
PTK2 protein tyrosine kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12833524
NCBI chr15:73,076,951...73,297,192
Ensembl chr15:73,076,951...73,295,129
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Ptpn2
protein tyrosine phosphatase, non-receptor type 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22446963
NCBI chr18:67,798,571...67,857,697
Ensembl chr18:67,798,581...67,857,665
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Ptpn22
protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
susceptibility no_association
ISO
DNA:snp:cds:p.R620W (rs2476601) (human) ClinVar Annotator: match by term: RHEUMATOID ARTHRITIS, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Rheumatoid arthritis CTD Direct Evidence: marker/mechanism DNA:SNP::1858C>T (human) DNA:snp:cds:p.R263Q (rs33996649) (human)
ClinVar OMIM CTD RGD
PMID:15004560 PMID:15208781 PMID:15273934 PMID:15580548 PMID:15719322 PMID:15744042 PMID:16273109 PMID:16339849 PMID:16470599 PMID:17170052 PMID:17436241 PMID:17554300 PMID:17878369 PMID:18301444 PMID:18978792 PMID:19265110 PMID:19430480 PMID:19898480 PMID:20453842 PMID:21190368 PMID:21841778 PMID:23143596 PMID:25741868 PMID:28492532 PMID:30224649 PMID:15208781 PMID:21467606 PMID:21279993 More...
RGD:6484535 , RGD:7829746 , RGD:6484595
NCBI chr 3:103,763,891...103,819,568
Ensembl chr 3:103,767,111...103,819,563
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Ptprc
protein tyrosine phosphatase receptor type C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20453842 PMID:23143596
NCBI chr 1:137,990,597...138,103,491
Ensembl chr 1:137,990,599...138,103,446
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Pxk
PX domain containing serine/threonine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20453842
NCBI chr14:14,304,656...14,371,593
Ensembl chr14:14,304,656...14,371,562
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Rab8a
RAB8A, member RAS oncogene family
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12833524
NCBI chr 8:72,915,044...72,935,210
Ensembl chr 8:72,915,044...72,937,748
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Rap2a
RAS related protein 2a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12833524
NCBI chr14:120,715,873...120,744,606
Ensembl chr14:120,715,856...120,744,606
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Rasgrp1
RAS guanyl releasing protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143596
NCBI chr 2:117,110,464...117,173,358
Ensembl chr 2:117,110,474...117,173,482
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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 5:53,713,121...53,814,787
Ensembl chr 5:53,623,494...53,814,704
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Rcan1
regulator of calcineurin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143596
NCBI chr16:92,188,839...92,263,057
Ensembl chr16:92,188,841...92,267,755
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Rel
reticuloendotheliosis oncogene
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19503088 PMID:20453842 PMID:23143596
NCBI chr11:23,686,847...23,720,969
Ensembl chr11:23,686,847...23,720,970
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Rgmb
repulsive guidance molecule family member B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17568789
NCBI chr17:16,024,923...16,051,508
Ensembl chr17:16,023,450...16,051,301
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Runx1
runt related transcription factor 1
no_association
ISO
DNA:SNPs: :rs2242720, rs4816502 (human) CTD Direct Evidence: marker/mechanism DNA:SNP: :rs2268277 (human) DNA:SNP:intron:24658G>C (human)
CTD RGD
PMID:23143596 PMID:20018071 PMID:18087673 PMID:18328148 PMID:16821265
RGD:6482836 , RGD:6482840 , RGD:6482839 , RGD:6482837
NCBI chr16:92,398,354...92,622,962
Ensembl chr16:92,398,354...92,623,037
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Runx2
runt related transcription factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20008919
NCBI chr17:44,806,873...45,125,518
Ensembl chr17:44,806,874...45,125,684
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Sema3c
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C
ISO
protein:increased expression:knee, synovium (human)
RGD
PMID:15077297
RGD:1580084
NCBI chr 5:17,779,814...17,935,266
Ensembl chr 5:17,779,279...17,935,266
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Slc11a1
solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1
severity
ISO
DNA:polymorphism:promoter (human) CTD Direct Evidence: marker/mechanism DNA:polymorphisms, deletion: :823C>T, p.D543N (human)
CTD RGD
PMID:16597321 PMID:12135431 PMID:10719815
RGD:5684967 , RGD:5684971
NCBI chr 1:74,414,318...74,429,974
Ensembl chr 1:74,414,354...74,425,221
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Slc22a4
solute carrier family 22 (organic cation transporter), member 4
susceptibility
ISO
ClinVar Annotator: match by term: Rheumatoid arthritis CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM
PMID:14608356
NCBI chr11:53,873,941...53,920,866
Ensembl chr11:53,873,949...53,918,916
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Slc25a12
solute carrier family 25 (mitochondrial carrier, Aralar), member 12
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12833524
NCBI chr 2:71,104,614...71,198,125
Ensembl chr 2:71,101,407...71,198,093
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Sms
spermine synthase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19192274
NCBI chr X:156,226,847...156,275,283
Ensembl chr X:156,226,851...156,275,283
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Snhg14
small nucleolar RNA host gene 14
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34529319
NCBI chr 7:58,922,485...60,099,925
G
Sod2
superoxide dismutase 2, mitochondrial
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12833524 PMID:15292528 PMID:24313545
NCBI chr17:13,226,726...13,237,006
Ensembl chr17:13,225,733...13,258,950
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Spp1
secreted phosphoprotein 1
ISO
RGD
PMID:15761492
RGD:1581382
NCBI chr 5:104,582,977...104,588,919
Ensembl chr 5:104,582,984...104,588,916
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Spred2
sprouty-related EVH1 domain containing 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20453842 PMID:23143596
NCBI chr11:19,874,442...19,974,026
Ensembl chr11:19,874,375...19,974,026
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St6galnac5
ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17379860 PMID:17568789
NCBI chr 3:152,525,522...152,687,847
Ensembl chr 3:152,522,718...152,687,883
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Stat1
signal transducer and activator of transcription 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12833524
NCBI chr 1:52,158,588...52,201,024
Ensembl chr 1:52,158,599...52,201,024
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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 chr11:100,777,632...100,830,447
Ensembl chr11:100,775,924...100,830,366
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Stat4
signal transducer and activator of transcription 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20453842 PMID:23143596
NCBI chr 1:52,026,265...52,146,348
Ensembl chr 1:52,026,307...52,146,348
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Sts
steroid sulfatase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19192274
NCBI chr X:168,856,332...169,015,037
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Supt20
SPT20 SAGA complex component
ISO
ClinVar Annotator: match by term: Rheumatoid arthritis
ClinVar
NCBI chr 3:54,600,181...54,636,184
Ensembl chr 3:54,600,228...54,636,187
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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 chr10:7,781,412...7,832,039
Ensembl chr10:7,781,417...7,831,994
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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:84,617,466...84,678,075
Ensembl chr X:84,617,628...84,678,075
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Tagap
T cell activation Rho GTPase activating protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20453842 PMID:23143596
NCBI chr17:8,144,832...8,153,729
Ensembl chr17:8,144,832...8,153,729
G
Tap2
transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)
ISO
RGD
PMID:9645419
RGD:6482275
NCBI chr17:34,423,453...34,435,295
Ensembl chr17:34,422,501...34,435,295
G
Tfpi2
tissue factor pathway inhibitor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15292528 PMID:17379860
NCBI chr 6:3,962,589...3,988,977
Ensembl chr 6:3,962,595...3,988,919
G
Thbd
thrombomodulin
ISO
RGD
PMID:15700117
RGD:5685020
NCBI chr 2:148,246,391...148,250,108
Ensembl chr 2:148,246,386...148,250,108
G
Tle3
transducin-like enhancer of split 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143596
NCBI chr 9:61,279,608...61,325,779
Ensembl chr 9:61,279,648...61,325,779
G
Tlr1
toll-like receptor 1
ISO
ClinVar Annotator: match by term: Rheumatoid arthritis
ClinVar
PMID:32594150
NCBI chr 5:65,082,023...65,090,945
Ensembl chr 5:65,082,022...65,090,906
G
Tlr2
toll-like receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19192274
NCBI chr 3:83,743,579...83,749,045
Ensembl chr 3:83,743,579...83,749,074
G
Tmpo
thymopoietin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12833524
NCBI chr10:90,983,433...91,017,614
Ensembl chr10:90,983,433...91,017,177
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Tnf
tumor necrosis factor
treatment no_association
ISO IAGP
mRNA:increased expression:synovial (human) CTD Direct Evidence: marker/mechanism|therapeutic OMIM:180300 DNA:SNP:promoter:-238G>A, -308G>A (human) DNA:SNP:promoter:-857C>T (human)
CTD MouseDO RGD
PMID:2001072 PMID:8391952 PMID:12566094 PMID:22450443 PMID:34459104 PMID:12563673 PMID:22660635 PMID:25311255 PMID:25311255 More...
RGD:10450537 , RGD:155663483 , RGD:12904065 , RGD:12904065
NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
G
Tnfaip2
tumor necrosis factor, alpha-induced protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19192274
NCBI chr12:111,408,898...111,421,452
Ensembl chr12:111,408,903...111,421,452
G
Tnfaip3
tumor necrosis factor, alpha-induced protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18794853 PMID:20453842 PMID:21841782 PMID:23143596 PMID:30224649
NCBI chr10:18,876,658...18,891,158
Ensembl chr10:18,876,658...18,891,405
G
Tnfrsf11b
tumor necrosis factor receptor superfamily, member 11b (osteoprotegerin)
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:23333834
NCBI chr15:54,114,014...54,141,700
Ensembl chr15:54,114,015...54,141,880
G
Tnfrsf14
tumor necrosis factor receptor superfamily, member 14 (herpesvirus entry mediator)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20453842
NCBI chr 4:155,002,944...155,013,077
Ensembl chr 4:155,006,390...155,013,020
G
Tnfrsf1a
tumor necrosis factor receptor superfamily, member 1a
treatment
ISO
DNA:SNP:promoter:36G>A (human)
RGD
PMID:25311255
RGD:12904065
NCBI chr 6:125,326,686...125,339,446
Ensembl chr 6:125,326,325...125,339,447
G
Tnfsf14
tumor necrosis factor (ligand) superfamily, member 14
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20008919
NCBI chr17:57,496,437...57,501,182
Ensembl chr17:57,496,492...57,501,177
G
Traf1
TNF receptor-associated factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18794853 PMID:23143596
NCBI chr 2:34,831,762...34,851,784
Ensembl chr 2:34,831,762...34,851,784
G
Traf6
TNF receptor-associated factor 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20453842 PMID:23143596
NCBI chr 2:101,508,765...101,532,013
Ensembl chr 2:101,508,774...101,532,014
G
Trem1
triggering receptor expressed on myeloid cells 1
treatment
ISO
RGD
PMID:27049384
RGD:127229930
NCBI chr17:48,539,763...48,553,955
Ensembl chr17:48,539,796...48,553,952
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Txndc5
thioredoxin domain containing 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23326410
NCBI chr13:38,684,242...38,712,800
Ensembl chr13:38,684,055...38,712,800
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Txnip
thioredoxin interacting protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19192274
NCBI chr 3:96,465,273...96,469,173
Ensembl chr 3:96,465,273...96,469,199
G
Tyk2
tyrosine kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143596 PMID:30224649
NCBI chr 9:21,015,364...21,042,689
Ensembl chr 9:21,015,364...21,042,539
G
Tyms
thymidylate synthase
treatment
ISO
DNA:polymorphism: :
RGD
PMID:22763757
RGD:11075093
NCBI chr 5:30,243,544...30,279,261
Ensembl chr 5:30,263,200...30,278,615
G
Tyrobp
TYRO protein tyrosine kinase binding protein
treatment
ISO
RGD
PMID:27049384
RGD:127229930
NCBI chr 7:30,113,207...30,117,007
Ensembl chr 7:30,113,185...30,117,010
G
Vdr
vitamin D (1,25-dihydroxyvitamin D3) receptor
no_association
ISO
DNA:SNP:exon:rs2228570 (human) DNA:SNP: :rs1544410 (human)
RGD
PMID:21820934 PMID:21820934
RGD:8158077 , RGD:8158077
NCBI chr15:97,752,308...97,806,177
Ensembl chr15:97,752,306...97,808,511
G
Vegfa
vascular endothelial growth factor A
disease_progression
ISO
protein:increased expression:serum: CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16368150 PMID:24387171
RGD:8548659
NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295
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Vim
vimentin
ISO
RGD
PMID:21792832
RGD:6480508
NCBI chr 2:13,579,122...13,587,637
Ensembl chr 2:13,578,738...13,587,637
G
Zap70
zeta-chain (TCR) associated protein kinase
IAGP
OMIM:180300
MouseDO
NCBI chr 1:36,800,879...36,821,902
Ensembl chr 1:36,800,879...36,821,899
G
Zfp36
zinc finger protein 36
IAGP
OMIM:180300
MouseDO
NCBI chr 7:28,076,208...28,078,680
Ensembl chr 7:28,076,209...28,079,678
G
Hgf
hepatocyte growth factor
ISO
protein:increased expression:serum:
RGD
PMID:24387171
RGD:8548659
NCBI chr 5:16,758,493...16,827,448
Ensembl chr 5:16,758,493...16,825,150
G
Vegfa
vascular endothelial growth factor A
ISO
protein:increased expression:serum:
RGD
PMID:24387171
RGD:8548659
NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295
G
H2-Eb1
histocompatibility 2, class II antigen E beta
susceptibility
ISO
DNA:polymorphism: :HLA-DRB1*1104, HLA-DRB1*080(human)
RGD
PMID:7955632
RGD:7365102
NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648
G
1700019D03Rik
RIKEN cDNA 1700019D03 gene
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 1:52,961,483...53,031,816
Ensembl chr 1:52,961,483...53,059,338
G
Acp3
acid phosphatase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 9:104,165,439...104,214,921
Ensembl chr 9:104,165,450...104,214,947
G
Acrbp
proacrosin binding protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 6:125,026,890...125,040,228
Ensembl chr 6:125,026,652...125,040,230
G
Adcy7
adenylate cyclase 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 8:88,998,818...89,056,593
Ensembl chr 8:88,999,031...89,056,590
G
Alox12
arachidonate 12-lipoxygenase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr11:70,132,283...70,146,206
Ensembl chr11:70,132,283...70,146,179
G
Ankrd9
ankyrin repeat domain 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr12:110,942,854...110,945,516
Ensembl chr12:110,941,787...110,945,474
G
Aopep
aminopeptidase O
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr13:63,112,707...63,473,910
Ensembl chr13:63,112,707...63,473,910
G
Aqp9
aquaporin 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 9:71,017,941...71,075,170
Ensembl chr 9:71,017,941...71,075,964
G
Areg
amphiregulin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 5:91,287,458...91,296,291
Ensembl chr 5:91,287,458...91,296,291
G
Asap1
ArfGAP with SH3 domain, ankyrin repeat and PH domain1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr15:63,958,704...64,254,922
Ensembl chr15:63,958,706...64,254,768
G
Avl9
AVL9 cell migration associated
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 6:56,691,720...56,738,897
Ensembl chr 6:56,691,884...56,738,897
G
B4galt5
UDP-Gal:betaGlcNAc beta 1,4-galactosyltransferase, polypeptide 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 2:167,140,364...167,191,155
Ensembl chr 2:167,140,364...167,191,103
G
Bend2
BEN domain containing 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr X:160,080,852...160,124,208
Ensembl chr X:160,070,452...160,149,248
G
Bltp3b
bridge-like lipid transfer protein family member 3B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr10:89,580,830...89,655,753
Ensembl chr10:89,580,853...89,655,733
G
Btg1
BTG anti-proliferation factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr10:96,452,863...96,458,675
Ensembl chr10:96,452,868...96,458,671
G
Btg3
BTG anti-proliferation factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr16:78,156,748...78,174,069
Ensembl chr16:78,129,525...78,174,080
G
C8b
complement component 8, beta polypeptide
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7980680
NCBI chr 4:104,623,514...104,661,745
Ensembl chr 4:104,623,514...104,661,745
G
C9orf72
C9orf72, member of C9orf72-SMCR8 complex
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 4:35,191,285...35,226,153
Ensembl chr 4:35,191,285...35,226,175
G
Cald1
caldesmon 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 6:34,575,433...34,752,404
Ensembl chr 6:34,575,435...34,752,408
G
Camsap1
calmodulin regulated spectrin-associated protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 2:25,816,850...25,873,574
Ensembl chr 2:25,816,850...25,873,294
G
Ccdc122
coiled-coil domain containing 122
ISO
ClinVar Annotator: match by term: JUVENILE ARTHRITIS
ClinVar
PMID:25741868
NCBI chr14:77,274,212...77,349,703
Ensembl chr14:77,274,212...77,349,697
G
Ccr5
C-C motif chemokine receptor 5
no_association
ISO
DNA:frameshift mutation:cds:p.S185_T195del rs333 (human) DNA:polymorphisms: :multiple (human)
RGD
PMID:17565662 PMID:16775617
RGD:1626283 , RGD:1626284
NCBI chr 9:123,921,557...123,934,153
Ensembl chr 9:123,921,580...123,947,736
G
Cd14
CD14 antigen
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr18:36,858,117...36,859,868
Ensembl chr18:36,858,120...36,859,851
G
Cd83
CD83 antigen
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr13:43,938,588...43,956,609
Ensembl chr13:43,938,251...43,956,608
G
Cd8b1
CD8 subunit beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 6:71,299,772...71,314,476
Ensembl chr 6:71,299,772...71,314,478
G
Ciita
class II transactivator
susceptibility no_association
ISO
DNA:polymorphism:exon:1614G>C (human) DNA:polymorphism:promoter:rs3087456, no association in a German cohort (Human)
RGD
PMID:17661914 PMID:16426246
RGD:5491187 , RGD:5491189
NCBI chr16:10,297,877...10,348,928
Ensembl chr16:10,297,923...10,346,282
G
Clu
clusterin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr14:66,205,932...66,218,997
Ensembl chr14:66,205,932...66,218,996
G
Cmtm2b
CKLF-like MARVEL transmembrane domain containing 2B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 8:105,048,838...105,057,396
Ensembl chr 8:105,048,862...105,057,396
G
Crem
cAMP responsive element modulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr18:3,263,181...3,337,688
Ensembl chr18:3,266,048...3,337,748
G
Crp
C-reactive protein, pentraxin-related
ISO
protein:increased expression:serum
RGD
PMID:22885951
RGD:6906884
NCBI chr 1:172,525,623...172,527,533
Ensembl chr 1:172,525,622...172,660,598
G
Ctla4
cytotoxic T-lymphocyte-associated protein 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 1:60,948,184...60,954,991
Ensembl chr 1:60,926,159...60,954,991
G
Cttn
cortactin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 7:143,989,468...144,024,743
Ensembl chr 7:143,989,470...144,024,746
G
Cxcl1
C-X-C motif chemokine ligand 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 5:91,039,104...91,040,980
Ensembl chr 5:91,039,100...91,040,974
G
Cxcl3
C-X-C motif chemokine ligand 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 5:90,933,960...90,935,952
Ensembl chr 5:90,933,962...90,937,459
G
Cxcr2
C-X-C motif chemokine receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 1:74,193,153...74,200,405
Ensembl chr 1:74,193,150...74,200,405
G
Cxcr4
C-X-C motif chemokine receptor 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504 PMID:26387944
NCBI chr 1:128,515,936...128,520,036
Ensembl chr 1:128,515,936...128,520,030
G
Dapk1
death associated protein kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr13:60,749,506...60,911,005
Ensembl chr13:60,749,761...60,911,005
G
Ddit3
DNA-damage inducible transcript 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr10:127,126,662...127,132,160
Ensembl chr10:127,126,643...127,132,157 Ensembl chr10:127,126,643...127,132,157
G
Dusp1
dual specificity phosphatase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr17:26,724,565...26,727,446
Ensembl chr17:26,724,564...26,781,102
G
Dusp2
dual specificity phosphatase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 2:127,178,079...127,180,297
Ensembl chr 2:127,178,079...127,180,296
G
Dusp4
dual specificity phosphatase 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 8:35,274,448...35,289,106
Ensembl chr 8:35,274,451...35,287,048
G
Dysf
dysferlin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 6:83,985,344...84,188,042
Ensembl chr 6:83,985,572...84,188,042
G
Egf
epidermal growth factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 3:129,471,223...129,548,971
Ensembl chr 3:129,471,214...129,548,965
G
Egr1
early growth response 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr18:34,994,260...34,998,009
Ensembl chr18:34,992,876...34,998,037
G
Elf2
E74-like factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 3:51,160,141...51,248,101
Ensembl chr 3:51,160,141...51,248,084
G
Etnk1
ethanolamine kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 6:143,112,592...143,154,272
Ensembl chr 6:143,112,947...143,178,033
G
Etv6
ets variant 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 6:134,012,663...134,247,121
Ensembl chr 6:134,012,663...134,247,121
G
Fam20a
FAM20A, golgi associated secretory pathway pseudokinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr11:109,563,752...109,613,989
Ensembl chr11:109,560,575...109,613,105
G
Faxdc2
fatty acid hydroxylase domain containing 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr11:57,954,508...57,983,977
Ensembl chr11:57,954,378...57,983,960
G
Fcgr1
Fc receptor, IgG, high affinity I
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 3:96,190,225...96,201,285
Ensembl chr 3:96,190,225...96,201,285
G
Fchsd2
FCH and double SH3 domains 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 7:100,757,836...100,933,613
Ensembl chr 7:100,742,070...100,933,612
G
Fos
FBJ osteosarcoma oncogene
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr12:85,520,664...85,524,048
Ensembl chr12:85,520,664...85,524,047
G
Fosb
FBJ osteosarcoma oncogene B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 7:19,036,621...19,043,970
Ensembl chr 7:19,036,621...19,043,976
G
Fosl2
fos-like antigen 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 5:32,292,599...32,315,184
Ensembl chr 5:32,293,145...32,315,186
G
Foxp1
forkhead box P1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 6:98,902,303...99,510,587
Ensembl chr 6:98,902,299...99,499,682
G
Gadd45a
growth arrest and DNA-damage-inducible 45 alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 6:67,012,080...67,014,391
Ensembl chr 6:67,012,080...67,014,441
G
Gmpr
guanosine monophosphate reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr13:45,660,905...45,699,862
Ensembl chr13:45,660,920...45,707,276
G
Gng11
guanine nucleotide binding protein (G protein), gamma 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 6:4,003,987...4,008,445
Ensembl chr 6:4,003,904...4,008,445
G
Gp1bb
glycoprotein Ib, beta polypeptide
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr16:18,439,069...18,441,153
Ensembl chr16:18,439,067...18,441,153
G
Gstt1
glutathione S-transferase, theta 1
susceptibility
ISO
DNA:deletion: :
RGD
PMID:18328165
RGD:5490992
NCBI chr10:75,619,647...75,634,418
Ensembl chr10:75,619,647...75,634,418
G
H2-Aa
histocompatibility 2, class II antigen A, alpha
ISO
DNA:polymorphism (human)
RGD
PMID:19811310 PMID:10457895
RGD:5147815 , RGD:5147863
NCBI chr17:34,501,718...34,506,797
Ensembl chr17:34,501,718...34,506,797
G
H2-Ab1
histocompatibility 2, class II antigen A, beta 1
ISO
DNA:polymorphism (human)
RGD
PMID:10457895
RGD:5147863
NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393
G
H2-Eb1
histocompatibility 2, class II antigen E beta
ISO
DNA:polymorphism (human)
RGD
PMID:19908388 PMID:10457895
RGD:5147587 , RGD:5147863
NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648
G
H2ac13
H2A clustered histone 13
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr13:21,900,582...21,901,029
Ensembl chr13:21,900,592...21,900,984
G
H2bc8
H2B clustered histone 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr13:23,755,574...23,756,037
Ensembl chr13:23,755,570...23,756,187
G
Hbegf
heparin-binding EGF-like growth factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr18:36,637,980...36,648,858
Ensembl chr18:36,637,980...36,648,858
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Herpud2
HERPUD family member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 9:25,012,412...25,063,109
Ensembl chr 9:25,019,428...25,063,116
G
Hfe
homeostatic iron regulator
ISO
DNA:missense mutation:cds:p.C282Y (human)
RGD
PMID:16047841
RGD:8694357
NCBI chr13:23,886,017...23,894,837
Ensembl chr13:23,886,017...23,894,837
G
Hspd1
heat shock protein 1 (chaperonin)
ISO
protein:increased expression:serum,synovial fluid:
RGD
PMID:8255671
RGD:12910480
NCBI chr 1:55,116,992...55,127,402
Ensembl chr 1:55,116,994...55,127,402
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Igf1r
insulin-like growth factor I receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 7:67,601,486...67,883,416
Ensembl chr 7:67,602,575...67,883,416
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Il1a
interleukin 1 alpha
ISO
DNA:SNP:promoter:-889C>T (human)
RGD
PMID:8162643
RGD:7794716
NCBI chr 2:129,141,530...129,151,892
Ensembl chr 2:129,141,530...129,151,892
G
Il1rn
interleukin 1 receptor antagonist
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 2:24,226,872...24,241,503
Ensembl chr 2:24,226,865...24,241,506
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Il2
interleukin 2
ISO
protein:increased expression:mononuclear cell
RGD
PMID:21859687
RGD:5147870
NCBI chr 3:37,174,862...37,180,103
Ensembl chr 3:37,174,672...37,180,108
G
Il6
interleukin 6
ISO
protein:increased expression:serum:
RGD
PMID:9489833
RGD:7829742
NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979
G
Itga2b
integrin alpha 2b
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr11:102,344,123...102,360,709
Ensembl chr11:102,344,123...102,360,948
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Itgb5
integrin beta 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr16:33,650,021...33,769,708
Ensembl chr16:33,650,035...33,769,708
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Jmjd1c
jumonji domain containing 1C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr10:66,932,189...67,092,105
Ensembl chr10:66,931,904...67,092,105
G
Jun
jun proto-oncogene
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 4:94,937,273...94,940,459
Ensembl chr 4:94,937,271...94,940,459
G
Kat6b
K(lysine) acetyltransferase 6B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr14:21,549,284...21,722,546
Ensembl chr14:21,531,502...21,722,546
G
Kcnj15
potassium inwardly-rectifying channel, subfamily J, member 15
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr16:95,058,417...95,101,119
Ensembl chr16:95,058,417...95,101,119
G
Klf4
Kruppel-like transcription factor 4 (gut)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 4:55,527,137...55,536,984
Ensembl chr 4:55,527,143...55,532,466
G
Kras
Kirsten rat sarcoma viral oncogene homolog
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 6:145,162,425...145,197,631
Ensembl chr 6:145,162,425...145,195,965
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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 chr14:77,261,640...77,274,344
Ensembl chr14:77,261,640...77,274,344
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Lilra5
leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 7:4,240,643...4,246,689
Ensembl chr 7:4,240,753...4,246,462
G
Lpp
LIM domain containing preferred translocation partner in lipoma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr16:24,212,100...24,811,328
Ensembl chr16:24,212,257...24,811,328
G
Mad1l1
MAD1 mitotic arrest deficient 1-like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 5:139,994,444...140,307,346
Ensembl chr 5:139,994,444...140,307,307
G
Maff
v-maf musculoaponeurotic fibrosarcoma oncogene family, protein F (avian)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr15:79,230,813...79,243,278
Ensembl chr15:79,230,821...79,243,276
G
Maml2
mastermind like transcriptional coactivator 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 9:13,296,547...13,620,829
Ensembl chr 9:13,298,306...13,620,684
G
Map2
microtubule-associated protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 1:66,214,337...66,481,742
Ensembl chr 1:66,214,432...66,481,742
G
Mapk1
mitogen-activated protein kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr16:16,801,246...16,865,317
Ensembl chr16:16,801,246...16,865,317
G
Mbl2
mannose-binding lectin (protein C) 2
ISO
RGD
PMID:18334024
RGD:12910845
NCBI chr19:30,210,306...30,217,087
Ensembl chr19:30,210,342...30,217,087
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Mex3c
mex3 RNA binding family member C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr18:73,705,710...73,725,649
Ensembl chr18:73,706,115...73,725,646
G
Mir22hg
Mir22 host gene (non-protein coding)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr11:75,352,365...75,357,516
Ensembl chr11:75,352,365...75,357,502
G
Ms4a4a
membrane-spanning 4-domains, subfamily A, member 4A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr19:11,352,827...11,370,682
Ensembl chr19:11,352,887...11,370,154
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Msn
moesin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr X:95,139,651...95,212,159
Ensembl chr X:95,139,648...95,212,158
G
Mtss1
MTSS I-BAR domain containing 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr15:58,813,083...58,955,805
Ensembl chr15:58,813,083...58,953,854
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Myzap
myocardial zonula adherens protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 9:71,411,629...71,499,642
Ensembl chr 9:71,411,629...71,499,642
G
Ndel1
nudE neurodevelopment protein 1 like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr11:68,712,260...68,743,961
Ensembl chr11:68,712,260...68,762,684
G
Neat1
nuclear paraspeckle assembly transcript 1 (non-protein coding)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr19:5,874,736...5,895,508
Ensembl chr19:5,874,736...5,895,898
G
Nr4a2
nuclear receptor subfamily 4, group A, member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 2:56,996,845...57,014,018
Ensembl chr 2:56,996,842...57,014,015
G
Nr4a3
nuclear receptor subfamily 4, group A, member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 4:48,045,098...48,086,446
Ensembl chr 4:48,045,153...48,086,447
G
Nrg1
neuregulin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 8:32,299,493...33,381,858
Ensembl chr 8:32,304,579...33,374,825 Ensembl chr 8:32,304,579...33,374,825
G
Olr1
oxidized low density lipoprotein (lectin-like) receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 6:129,456,113...129,484,312
Ensembl chr 6:129,462,207...129,484,128
G
Osm
oncostatin M
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr11:4,186,831...4,191,027
Ensembl chr11:4,186,420...4,191,026
G
Pacsin2
protein kinase C and casein kinase substrate in neurons 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr15:83,259,812...83,348,800
Ensembl chr15:83,259,808...83,348,807
G
Pcyt1b
phosphate cytidylyltransferase 1, choline, beta isoform
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr X:92,698,469...92,793,557
Ensembl chr X:92,698,469...92,793,557
G
Per1
period circadian clock 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr11:68,985,934...69,000,791
Ensembl chr11:68,986,043...69,000,786
G
Pgm5
phosphoglucomutase 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr19:24,655,625...24,839,206
Ensembl chr19:24,660,380...24,839,219
G
Plaur
plasminogen activator, urokinase receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 7:24,161,857...24,175,393
Ensembl chr 7:24,161,909...24,175,393
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Plk2
polo like kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr13:110,531,578...110,537,378
Ensembl chr13:110,531,580...110,537,378
G
Plod2
procollagen lysine, 2-oxoglutarate 5-dioxygenase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 9:92,421,828...92,490,481
Ensembl chr 9:92,424,276...92,490,481
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Pros1
protein S (alpha)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr16:62,674,670...62,749,709
Ensembl chr16:62,674,670...62,749,709
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Ptpn22
protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
ISO
DNA: snp : cds : rs2476601
RGD
PMID:15934099
RGD:6484550
NCBI chr 3:103,763,891...103,819,568
Ensembl chr 3:103,767,111...103,819,563
G
R3hdm2
R3H domain containing 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr10:127,216,201...127,335,253
Ensembl chr10:127,216,196...127,335,253
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Rasgef1b
RasGEF domain family, member 1B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 5:99,365,279...99,400,786
Ensembl chr 5:99,365,285...99,876,924
G
Rbm47
RNA binding motif protein 47
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 5:66,173,892...66,309,297
Ensembl chr 5:66,173,892...66,330,461
G
Rere
arginine glutamic acid dipeptide (RE) repeats
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 4:150,365,372...150,706,423
Ensembl chr 4:150,366,103...150,706,423
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Rhobtb1
Rho-related BTB domain containing 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr10:68,987,106...69,127,621
Ensembl chr10:68,987,264...69,127,621
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Rnf103
ring finger protein 103
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 6:71,470,828...71,487,864
Ensembl chr 6:71,470,878...71,487,865
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Selp
selectin, platelet
severity
ISO
protein:increased expression:plasma
RGD
PMID:21124648
RGD:6219006
NCBI chr 1:163,942,833...163,977,595
Ensembl chr 1:163,942,833...163,977,595
G
Sh2d2a
SH2 domain containing 2A
ISO
RGD
PMID:15129233
RGD:2298870
NCBI chr 3:87,754,070...87,763,116
Ensembl chr 3:87,754,062...87,763,029
G
Sh3bgrl2
SH3 domain binding glutamic acid-rich protein like 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 9:83,430,391...83,482,345
Ensembl chr 9:83,430,380...83,520,854
G
Sik1
salt inducible kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr17:32,063,222...32,074,808
Ensembl chr17:32,063,224...32,074,778
G
Sipa1l1
signal-induced proliferation-associated 1 like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr12:82,216,138...82,498,560
Ensembl chr12:82,216,094...82,498,560
G
Slc11a1
solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1
ISO
DNA:repeat:promoter (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16597321 PMID:10857800
RGD:5684977
NCBI chr 1:74,414,318...74,429,974
Ensembl chr 1:74,414,354...74,425,221
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Slc22a16
solute carrier family 22 (organic cation transporter), member 16
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr10:40,446,317...40,480,128
Ensembl chr10:40,446,332...40,480,128
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Slc26a2
solute carrier family 26 (sulfate transporter), member 2
susceptibility
ISO
DNA:SNPs: :
RGD
PMID:17393463
RGD:13208931
NCBI chr18:61,329,926...61,344,668
Ensembl chr18:61,325,991...61,344,684
G
Slc2a3
solute carrier family 2 (facilitated glucose transporter), member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 6:122,704,783...122,779,149
Ensembl chr 6:122,704,768...122,778,599
G
Smad3
SMAD family member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 9:63,554,048...63,665,276
Ensembl chr 9:63,554,049...63,665,276
G
Stab1
stabilin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr14:30,860,974...30,890,616
Ensembl chr14:30,860,970...30,890,598
G
Stat3
signal transducer and activator of transcription 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr11:100,777,632...100,830,447
Ensembl chr11:100,775,924...100,830,366
G
Stim1
stromal interaction molecule 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 7:101,909,279...102,086,525
Ensembl chr 7:101,917,013...102,086,526
G
Tcf7l2
transcription factor 7 like 2, T cell specific, HMG box
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr19:55,730,227...55,922,091
Ensembl chr19:55,730,252...55,922,086
G
Tfdp1
transcription factor Dp 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 8:13,388,273...13,428,448
Ensembl chr 8:13,388,751...13,428,448
G
Tfpi
tissue factor pathway inhibitor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 2:84,263,199...84,307,119
Ensembl chr 2:84,263,199...84,307,119
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Thbd
thrombomodulin
ISO
protein:increased expression:serum
RGD
PMID:15209962
RGD:5685023
NCBI chr 2:148,246,391...148,250,108
Ensembl chr 2:148,246,386...148,250,108
G
Thbs1
thrombospondin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 2:117,942,357...117,957,614
Ensembl chr 2:117,942,357...117,957,614
G
Tnfaip6
tumor necrosis factor alpha induced protein 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 2:51,928,125...51,946,693
Ensembl chr 2:51,928,021...51,946,698
G
Tnfaip8
tumor necrosis factor, alpha-induced protein 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr18:50,112,494...50,226,296
Ensembl chr18:50,112,494...50,240,240
G
Tnik
TRAF2 and NCK interacting kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 3:28,317,362...28,724,734
Ensembl chr 3:28,317,363...28,730,007
G
Treml1
triggering receptor expressed on myeloid cells-like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr17:48,666,944...48,674,204
Ensembl chr17:48,666,944...48,674,204
G
Ttll5
tubulin tyrosine ligase-like family, member 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr12:85,871,417...86,100,534
Ensembl chr12:85,871,433...86,108,667
G
Tubb2a
tubulin, beta 2A class IIA
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr13:34,258,261...34,261,991
Ensembl chr13:34,258,257...34,261,990
G
Ube2e1
ubiquitin-conjugating enzyme E2E 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr14:4,137,852...4,186,967
Ensembl chr14:4,137,837...4,186,974
G
Ube3c
ubiquitin protein ligase E3C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 5:29,774,240...29,881,075
Ensembl chr 5:29,774,240...29,881,090
G
Wasf3
WASP family, member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 5:146,317,411...146,410,425
Ensembl chr 5:146,321,795...146,410,425
G
Wwox
WW domain-containing oxidoreductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 8:115,166,377...116,079,451
Ensembl chr 8:115,166,395...116,079,447
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Zfand3
zinc finger, AN1-type domain 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr17:30,224,013...30,429,797
Ensembl chr17:30,223,707...30,429,802
G
Zfc3h1
zinc finger, C3H1-type containing
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr10:115,220,691...115,268,677
Ensembl chr10:115,220,864...115,268,677
G
Aire
autoimmune regulator
IAGP
OMIM:270150
MouseDO
NCBI chr10:77,865,856...77,879,444
Ensembl chr10:77,865,856...77,879,444
G
Apoe
apolipoprotein E
onset
ISO
DNA:polymorphism:exon:
RGD
PMID:15328426
RGD:7495765
NCBI chr 7:19,430,169...19,434,326
Ensembl chr 7:19,430,034...19,433,113
G
Bdnf
brain derived neurotrophic factor
severity
ISO
protein:increased expression:serum:
RGD
PMID:18830907
RGD:8657019
NCBI chr 2:109,505,045...109,557,388
Ensembl chr 2:109,505,045...109,557,352
G
Bst2
bone marrow stromal cell antigen 2
ISO
mRNA, protein:increased expression: labial gland, CD19+ B cell, CD4-CD8-CD19-monocyte:
RGD
PMID:30249485
RGD:14398821
NCBI chr 8:71,986,899...71,990,116
Ensembl chr 8:71,986,899...71,990,100
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C3
complement component 3
IMP
RGD
PMID:17675493
RGD:7401265
NCBI chr17:57,510,967...57,535,136
Ensembl chr17:57,510,970...57,535,136
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Cast
calpastatin
ISO
associated with Lupus Erythematosus, Systemic
RGD
PMID:15540513
RGD:5683622
NCBI chr13:74,840,485...74,956,993
Ensembl chr13:74,840,487...74,956,929
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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 chr 9:123,921,557...123,934,153
Ensembl chr 9:123,921,580...123,947,736
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Ccr7
C-C motif chemokine receptor 7
IAGP
OMIM:270150
MouseDO
NCBI chr11:99,035,025...99,045,903
Ensembl chr11:99,035,022...99,045,903
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Cd40lg
CD40 ligand
ISO
protein:increased expression:salivary ductal epithelium (human)
RGD
PMID:12472667
RGD:11520791
NCBI chr X:56,257,448...56,269,402
Ensembl chr X:56,257,503...56,269,402
G
Crp
C-reactive protein, pentraxin-related
ISO
associated with Arthritis, Rheumatoid;protein:increased expression:serum:
RGD
PMID:2353152 PMID:16013223
RGD:9491774 , RGD:9491835
NCBI chr 1:172,525,623...172,527,533
Ensembl chr 1:172,525,622...172,660,598
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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:16869018 PMID:12528117
RGD:7421506 , RGD:7421519
NCBI chr 1:60,948,184...60,954,991
Ensembl chr 1:60,926,159...60,954,991
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Cyp19a1
cytochrome P450, family 19, subfamily a, polypeptide 1
IAGP
OMIM:270150
MouseDO
NCBI chr 9:54,073,221...54,175,448
Ensembl chr 9:54,073,221...54,175,394
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Cyp1a1
cytochrome P450, family 1, subfamily a, polypeptide 1
ISO
associated with Arthritis, Rheumatoid;DNA:polymorphism: :4889A>G (human)
RGD
PMID:12590982
RGD:5147747
NCBI chr 9:57,595,211...57,611,107
Ensembl chr 9:57,595,211...57,611,107
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Dgkq
diacylglycerol kinase, theta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24097067
NCBI chr 5:108,794,910...108,808,696
Ensembl chr 5:108,794,559...108,817,538
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E2f1
E2F transcription factor 1
IAGP
OMIM:270150
MouseDO
NCBI chr 2:154,401,320...154,411,812
Ensembl chr 2:154,401,327...154,411,812
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Fas
Fas cell surface death receptor
ISO IAGP IMP IEP
protein:increased expression:serum (human) OMIM:270150 protein:decreased expression:lacrimal gland, lymphocyte (mouse)
MouseDO RGD
PMID:9890678 PMID:9870874 PMID:11157873
RGD:8662410 , RGD:8662451 , RGD:8662436
NCBI chr19:34,267,926...34,305,175
Ensembl chr19:34,268,066...34,305,172
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Gdnf
glial cell line derived neurotrophic factor
ISO
RGD
PMID:9853108
RGD:6218983
NCBI chr15:7,839,529...7,867,061
Ensembl chr15:7,840,327...7,867,056
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Gtf2i
general transcription factor II I
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24097066
NCBI chr 5:134,266,686...134,346,571
Ensembl chr 5:134,266,688...134,343,614
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H2-Aa
histocompatibility 2, class II antigen A, alpha
susceptibility
ISO
DNA:polymorphism:cds:HLA-DQA1*0101 (human) DNA:polymorphisms::HLA-DQA1*0501,LA-DQA1*0301/2;
RGD
PMID:11555411 PMID:21315052
RGD:5147809 , RGD:7421543
NCBI chr17:34,501,718...34,506,797
Ensembl chr17:34,501,718...34,506,797
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H2-Ab1
histocompatibility 2, class II antigen A, 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:21315052 PMID:17489060 PMID:8468491
RGD:7421543 , RGD:36174022 , RGD:7483566
NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393
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H2-Eb1
histocompatibility 2, class II antigen E beta
susceptibility
ISO
DNA:polymorphism:cds:HLA-DRB1*0301 (human)
RGD
PMID:11555411
RGD:5147809
NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648
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Hmox1
heme oxygenase 1
treatment
ISO
RGD
PMID:24941846
RGD:10450595
NCBI chr 8:75,820,246...75,827,221
Ensembl chr 8:75,820,249...75,827,217
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Hnrnph1
heterogeneous nuclear ribonucleoprotein H1
ISO
RGD
PMID:19264855
RGD:10054311
NCBI chr11:50,266,084...50,277,355
Ensembl chr11:50,267,817...50,277,355
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Icam1
intercellular adhesion molecule 1
treatment
ISO IMP IEP
protein:increased expression:salivary gland protein:increased expression:plasma
RGD
PMID:11359451 PMID:21589878 PMID:15037117
RGD:8158122 , RGD:8547705 , RGD:8547696
NCBI chr 9:20,927,236...20,940,110
Ensembl chr 9:20,927,281...20,940,113
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Id3
inhibitor of DNA binding 3
IAGP
OMIM:270150
MouseDO
NCBI chr 4:135,871,133...135,872,703
Ensembl chr 4:135,870,808...135,873,066
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Ifng
interferon gamma
IMP ISO
RGD
PMID:15584966 PMID:28421993
RGD:8142390 , RGD:14975117
NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797
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Il10
interleukin 10
ISO
RGD
PMID:12233881
RGD:1580479
NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711
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Il12a
interleukin 12a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24097067
NCBI chr 3:68,597,977...68,605,881
Ensembl chr 3:68,597,977...68,605,880
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Il13
interleukin 13
ISO
protein:increased expression:serum
RGD
PMID:12051401
RGD:8549582
NCBI chr11:53,522,150...53,525,529
Ensembl chr11:53,522,151...53,525,529
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Il17a
interleukin 17A
IMP
RGD
PMID:21182786
RGD:8696035
NCBI chr 1:20,801,129...20,804,720
Ensembl chr 1:20,801,129...20,804,720
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Il18
interleukin 18
ISO
protein:increased expression:saliva
RGD
PMID:23906036
RGD:8655918
NCBI chr 9:50,466,000...50,493,141
Ensembl chr 9:50,466,127...50,493,140
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Il1rn
interleukin 1 receptor antagonist
ISO
DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human) protein:increased expression:conjunctiva (human)
RGD
PMID:9646842 PMID:11527941
RGD:8549786 , RGD:8549807
NCBI chr 2:24,226,872...24,241,503
Ensembl chr 2:24,226,865...24,241,506
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Il2
interleukin 2
IAGP
OMIM:270150
MouseDO
NCBI chr 3:37,174,862...37,180,103
Ensembl chr 3:37,174,672...37,180,108
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Il23r
interleukin 23 receptor
ISO
protein:increased expression:minor salivary gland:
RGD
PMID:22262980
RGD:8549566
NCBI chr 6:67,399,906...67,468,838
Ensembl chr 6:67,399,916...67,468,839
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Il2ra
interleukin 2 receptor, alpha chain
IAGP
OMIM:270150
MouseDO
NCBI chr 2:11,647,603...11,698,005
Ensembl chr 2:11,647,618...11,698,004
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Il4
interleukin 4
IAGP
OMIM:270150
MouseDO
NCBI chr11:53,503,287...53,509,492
Ensembl chr11:53,493,809...53,509,496
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Il6
interleukin 6
severity
ISO
protein:increased expression:plasma: DNA:polymorphims:promoter:-174G>C(human)
RGD
PMID:11426023 PMID:11426023
RGD:7829718 , RGD:7829718
NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979
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Irak1bp1
interleukin-1 receptor-associated kinase 1 binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24097067
NCBI chr 9:82,711,859...82,729,741
Ensembl chr 9:82,711,593...82,729,740
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Itsn2
intersectin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24097067
NCBI chr12:4,642,792...4,763,952
Ensembl chr12:4,642,638...4,763,962
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Lta
lymphotoxin A
no_association susceptibility
IMP ISO
DNA:SNPs: :multiple (human) DNA:SNP, haplotype:intron: (rs909253) (human) protein:increased expression:saliva, serum
RGD
PMID:20952683 PMID:22294627 PMID:22294627 PMID:20952683
RGD:8548776 , RGD:8548787 , RGD:8548787 , RGD:8548776
NCBI chr17:35,422,141...35,424,568
Ensembl chr17:35,422,141...35,424,327
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Map3k14
mitogen-activated protein kinase kinase kinase 14
IAGP
OMIM:270150
MouseDO
NCBI chr11:103,110,590...103,158,227
Ensembl chr11:103,110,588...103,158,298
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Mmp3
matrix metallopeptidase 3
ISO
RGD
PMID:19332626
RGD:8693671
NCBI chr 9:7,445,822...7,455,975
Ensembl chr 9:7,445,822...7,455,975
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Mmp9
matrix metallopeptidase 9
ISO
protein:increased activity:saliva
RGD
PMID:15316122 PMID:9923658
RGD:8547814 , RGD:8547858
NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770
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Muc16
mucin 16
ISO
mRNA, protein:increased expression:conjunctival epithelial cell, tear
RGD
PMID:19122828
RGD:7364772
NCBI chr 9:18,406,741...18,586,117
Ensembl chr 9:18,406,751...18,585,826
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Muc19
mucin 19
ISO IAGP
mRNA:decreased expression:conjunctival epithelial cell OMIM:270150
MouseDO RGD
PMID:18184611
RGD:7364736
NCBI chr15:91,722,531...91,832,440
Ensembl chr15:91,722,531...91,832,447
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Muc5ac
mucin 5, subtypes A and C, tracheobronchial/gastric
ISO
mRNA:decreased expression:conjunctival epithelial cell
RGD
PMID:18184611
RGD:7364736
NCBI chr 7:141,342,695...141,372,964
Ensembl chr 7:141,342,709...141,372,968
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Ncf1
neutrophil cytosolic factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28135245
NCBI chr 5:134,248,907...134,258,479
Ensembl chr 5:134,248,907...134,258,479
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Nefl
neurofilament, light polypeptide
ISO
protein:increased expression:CSF (human)
RGD
PMID:32423153
RGD:127284890
NCBI chr14:68,321,312...68,326,544
Ensembl chr14:68,321,312...68,326,544
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Nfkbia
nuclear factor of kappa light polypeptide gene enhancer in B cells inhibitor, alpha
IAGP IMP
OMIM:270150
MouseDO RGD
PMID:20696914
RGD:126908016
NCBI chr12:55,536,194...55,539,432
Ensembl chr12:55,536,195...55,539,432
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Phip
pleckstrin homology domain interacting protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24097067
NCBI chr 9:82,748,212...82,857,776
Ensembl chr 9:82,748,212...82,857,569
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Pon1
paraoxonase 1
ISO
protein:decreased activity:serum (human)
RGD
PMID:20497955
RGD:8547550
NCBI chr 6:5,168,101...5,193,824
Ensembl chr 6:5,168,090...5,193,946
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Prdm1
PR domain containing 1, with ZNF domain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24097067
NCBI chr10:44,313,170...44,404,579
Ensembl chr10:44,313,173...44,404,497
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Ptpn22
protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
no_association
ISO
DNA:snp:cds:c.1858C>T (human)
RGD
PMID:16163373 PMID:15933742
RGD:11534998 , RGD:11534999
NCBI chr 3:103,763,891...103,819,568
Ensembl chr 3:103,767,111...103,819,563
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Pttg1
pituitary tumor-transforming gene 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24097067
NCBI chr11:43,311,071...43,318,290
Ensembl chr11:43,311,077...43,317,078
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Reg1
regenerating islet-derived 1
ISO
protein:increased expression:minor salivary gland, salivary ductal epithelium (human)
RGD
PMID:19016805
RGD:9850137
NCBI chr 6:78,402,966...78,405,651
Ensembl chr 6:78,399,694...78,405,650
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Satb1
special AT-rich sequence binding protein 1
IAGP
OMIM:270150
MouseDO
NCBI chr17:52,043,215...52,140,318
Ensembl chr17:52,043,215...52,140,318
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Selp
selectin, platelet
ISO
protein:increased expression:plasma
RGD
PMID:19832990
RGD:6478702
NCBI chr 1:163,942,833...163,977,595
Ensembl chr 1:163,942,833...163,977,595
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St14
suppression of tumorigenicity 14 (colon carcinoma)
IAGP
OMIM:270150
MouseDO
NCBI chr 9:30,999,886...31,043,138
Ensembl chr 9:31,000,698...31,043,149
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Stat4
signal transducer and activator of transcription 4
susceptibility no_association
ISO
DNA:SNP:intron: (rs7582694) (human) CTD Direct Evidence: marker/mechanism DNA:SNP:intron: (rs7574865) (human)
CTD RGD
PMID:24097066 PMID:24097067 PMID:20535138 PMID:20360187 PMID:18273036
RGD:8661690 , RGD:8661709 , RGD:8661708
NCBI chr 1:52,026,265...52,146,348
Ensembl chr 1:52,026,307...52,146,348
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Tgfb1
transforming growth factor, beta 1
severity
IMP IAGP IEP
OMIM:270150
MouseDO RGD
PMID:9358754 PMID:7554451
RGD:7394829 , RGD:7394845
NCBI chr 7:25,386,406...25,404,503
Ensembl chr 7:25,386,427...25,404,502
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Thbs1
thrombospondin 1
IAGP
OMIM:270150
MouseDO
NCBI chr 2:117,942,357...117,957,614
Ensembl chr 2:117,942,357...117,957,614
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Tnf
tumor necrosis factor
treatment
ISO
DNA:polymorphism: :-1031T>C(human)
RGD
PMID:22703762 PMID:24941846
RGD:7394766 , RGD:10450595
NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
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Tnfaip3
tumor necrosis factor, alpha-induced protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24097066 PMID:24097067
NCBI chr10:18,876,658...18,891,158
Ensembl chr10:18,876,658...18,891,405
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Tnip1
TNFAIP3 interacting protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24097067
NCBI chr11:54,801,613...54,853,766
Ensembl chr11:54,801,611...54,853,743
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Traf3ip2
TRAF3 interacting protein 2
IAGP
OMIM:270150
MouseDO
NCBI chr10:39,488,930...39,531,303
Ensembl chr10:39,488,930...39,531,303
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Vim
vimentin
ISO
RGD
PMID:6352937
RGD:6480477
NCBI chr 2:13,579,122...13,587,637
Ensembl chr 2:13,578,738...13,587,637
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Vip
vasoactive intestinal polypeptide
IDA
RGD
PMID:22059987
RGD:5685375
NCBI chr10:5,589,131...5,597,617
Ensembl chr10:5,589,218...5,597,617
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Gstm1
glutathione S-transferase, mu 1
susceptibility
ISO
DNA:deletion: :
RGD
PMID:10616008
RGD:5491001
NCBI chr 3:107,919,566...107,925,289
Ensembl chr 3:107,919,571...107,925,289
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Ido1
indoleamine 2,3-dioxygenase 1
IMP
RGD
PMID:26914138
RGD:11529541
NCBI chr 8:25,074,148...25,086,987
Ensembl chr 8:25,074,152...25,087,025
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Il6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD OMIM
NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979
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Il6ra
interleukin 6 receptor, alpha
treatment
ISO
RGD
PMID:18358927
RGD:10402823
NCBI chr 3:89,776,631...89,820,503
Ensembl chr 3:89,771,366...89,820,503
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Mif
macrophage migration inhibitory factor (glycosylation-inhibiting factor)
susceptibility
ISO
CTD Direct Evidence: marker/mechanism
OMIM CTD
NCBI chr10:75,695,187...75,696,111
Ensembl chr10:75,695,187...75,696,074
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