rheumatoid arthritis - Ontology Report - Rat Genome Database

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RGD DISEASE ONTOLOGY - ANNOTATIONS

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RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:	rheumatoid arthritis	go back to main search page
Accession:	DOID:7148	browse the term
Definition:	An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint. (DO)
Synonyms:	exact_synonym:	RA; atrophic arthritis; rheumatic arthritis or polyarthritis
	narrow_synonym:	ACPA-negative rheumatoid arthritis; ACPA-positive rheumatoid arthritis; CD244-RELATED CONDITION; RHEUMATOID ARTHRITIS, PROGRESSION OF; SLC22A4-RELATED CONDITION
	related_synonym:	rheumatoid arthritis, susceptibility to
	primary_id:	MESH:D001172
	alt_id:	MIM:180300
	xref:	EFO:0000685; EFO:0009459; EFO:0009460; ICD10CM:M06.9; ICD9CM:714.0; NCI:C2884
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants Sort by:
Rat (519 ) Mouse (451 ) Human (6391 ) Chinchilla (402 ) Bonobo (442 ) Dog (433 ) Squirrel (418 ) Pig (429 ) Green Monkey (435) Naked Mole-rat (410 ) All
Genes (433)

rheumatoid arthritis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily B member 1

ISO

CTD Direct Evidence: marker/mechanism

PMID:20080907 PMID:22104130

NCBI chr14:13,644,891...13,852,829
Ensembl chr14:13,542,647...13,742,727

G

ATP binding cassette subfamily C member 2

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr28:12,670,885...12,740,124
Ensembl chr28:12,670,885...12,740,740

G

ATP binding cassette subfamily C member 3

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 9:26,551,953...26,596,330
Ensembl chr 9:26,551,268...26,595,646

G

ATP binding cassette subfamily C member 4

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr22:45,767,033...46,013,577
Ensembl chr22:45,765,835...46,013,505

G

ATP binding cassette subfamily C member 5

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr34:16,856,624...16,947,844
Ensembl chr34:16,856,633...16,946,422

G

ATP binding cassette subfamily G member 2

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr32:11,443,778...11,517,674
Ensembl chr32:11,443,780...11,517,674

G

aggrecan

disease_progression

ISO

protein:increased degradation:cartilage
CTD Direct Evidence: marker/mechanism

PMID:15292528 PMID:16507130

NCBI chr 3:51,995,100...52,031,812
Ensembl chr 3:51,969,779...52,031,544

G

atypical chemokine receptor 3

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr25:47,327,921...47,339,632
Ensembl chr25:47,327,963...47,339,622

G

ADAM metallopeptidase with thrombospondin type 1 motif 4

ISO

mRNA:increased expression:synovium

NCBI chr38:21,283,555...21,292,432
Ensembl chr38:21,284,330...21,292,437

G

ADAM metallopeptidase with thrombospondin type 1 motif 5

ISO

protein:alternative form:synovium

NCBI chr31:22,242,901...22,289,453
Ensembl chr31:22,248,092...22,289,802

G

adiponectin, C1Q and collagen domain containing

ISO

protein:increased expression:serum
CTD Direct Evidence: marker/mechanism

PMID:12833524 PMID:21789720

NCBI chr34:19,398,310...19,410,519
Ensembl chr34:19,354,825...19,409,844

G

adenosine A2a receptor

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr26:28,141,076...28,150,600
Ensembl chr26:28,141,076...28,150,598

G

adrenoceptor beta 3

ISO

DNA:missense mutation:cds:p.W64R rs4994 (human)

NCBI chr16:27,445,601...27,446,796
Ensembl chr16:27,445,601...27,447,521

G

ALF transcription elongation factor 3

ISO

CTD Direct Evidence: marker/mechanism

PMID:20453842 PMID:23143596

NCBI chr10:42,587,173...43,111,739
Ensembl chr10:42,586,394...43,247,328

G

advanced glycosylation end-product specific receptor

ISO

CTD Direct Evidence: marker/mechanism
protein:decreased expression:plasma (human)

PMID:16385501 PMID:20541603

NCBI chr12:1,574,251...1,577,410
Ensembl chr12:1,574,251...1,577,129

G

aryl hydrocarbon receptor

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr14:31,743,704...31,793,484
Ensembl chr14:31,686,170...31,791,444

G

arachidonate 5-lipoxygenase

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr28:2,170,920...2,218,765
Ensembl chr28:2,170,920...2,219,609

G

ankyrin repeat domain 55

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 2:43,338,042...43,655,708
Ensembl chr 2:43,339,179...43,488,840

G

annexin A3

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr32:3,006,000...3,049,321
Ensembl chr32:3,005,788...3,049,049

G

apolipoprotein A4

ISO

protein:increased expression:blood serum (human)

NCBI chr 5:16,751,588...16,754,215
Ensembl chr 5:16,751,799...16,754,837

G

AT-rich interaction domain 5B

ISO

CTD Direct Evidence: marker/mechanism

PMID:22446963 PMID:23143596

NCBI chr 4:13,926,759...14,105,069
Ensembl chr 4:13,927,217...14,101,364

G

5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr37:22,420,645...22,446,769
Ensembl chr37:22,420,603...22,446,697

G

alpha-2-glycoprotein 1, zinc-binding

ISO

mRNA:decreased expression:liver

NCBI chr 6:9,622,991...9,629,154
Ensembl chr 6:9,622,992...9,629,154

G

UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr10:62,170,262...62,239,010
Ensembl chr10:62,145,117...62,146,310
Ensembl chr10:62,145,117...62,146,310

G

UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 9

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 5:82,212,940...82,215,918
Ensembl chr 5:82,212,922...82,214,679

G

BAR/IMD domain containing adaptor protein 2 like 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 6:10,968,100...11,055,040
Ensembl chr 6:10,968,060...11,053,494

G

BCL2 related protein A1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 3:57,451,512...57,463,692
Ensembl chr 3:57,424,555...57,463,692

G

bradykinin receptor B2

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 8:64,974,588...65,005,682
Ensembl chr 8:64,974,997...65,003,407

G

bone gamma-carboxyglutamate protein

ISO

protein:increased expression:serum

PMID:3488088 PMID:22447331

RGD:6483593 RGD:6483600

NCBI chr 7:41,630,092...41,630,976
Ensembl chr 7:41,630,098...41,665,791

G

biglycan

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr X:121,330,371...121,334,634
Ensembl chr X:121,330,259...121,334,634

G

BLK proto-oncogene, Src family tyrosine kinase

ISO

CTD Direct Evidence: marker/mechanism

PMID:20453842 PMID:23143596

NCBI chr25:26,336,253...26,357,494
Ensembl chr25:26,336,892...26,358,015

G

bone morphogenetic protein 4

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 8:29,997,563...30,254,307
Ensembl chr 8:29,997,569...30,004,557

G

bone morphogenetic protein 6

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr35:7,780,763...7,833,095
Ensembl chr35:7,804,231...7,831,845

G

butyrophilin like 2

susceptibility

ISO

DNA:SNPs: :

NCBI chr12:2,085,589...2,106,787
Ensembl chr12:2,086,324...2,107,124

G

complement C3

ISO

NCBI chr20:53,566,226...53,598,365
Ensembl chr20:53,566,261...53,598,761

G

carbonic anhydrase 1

ISO

NCBI chr29:31,858,644...31,868,135
Ensembl chr29:31,858,636...31,868,158

G

carbonic anhydrase 2

ISO

NCBI chr29:31,959,225...31,975,309
Ensembl chr29:31,935,172...31,980,579

G

caldesmon 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr16:13,087,419...13,279,648
Ensembl chr16:13,084,109...13,279,384

G

caspase 7

ISO

NCBI chr28:24,599,866...24,630,018
Ensembl chr28:24,599,493...24,628,668

G

calpastatin

ISO

NCBI chr 3:12,920,514...13,031,974
Ensembl chr 3:12,922,453...13,031,959

G

catalase

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr18:33,383,005...33,422,447
Ensembl chr18:33,383,005...33,422,447

G

caveolin 2

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr14:55,437,622...55,445,481
Ensembl chr14:55,437,622...55,445,469

G

C-C motif chemokine ligand 2

ISO

protein:increased expression:serum

NCBI chr 9:39,008,187...39,009,932

G

C-C motif chemokine ligand 21

ISO

CTD Direct Evidence: marker/mechanism

PMID:18794853 PMID:20453842 PMID:23143596

NCBI chr11:51,375,107...51,375,790

G

C-C motif chemokine ligand 22

ISO

protein:increased expression:plasma:

NCBI chr 2:59,039,650...59,045,519
Ensembl chr 2:59,040,539...59,045,625

G

C-C motif chemokine ligand 8

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 9:38,949,184...38,950,702
Ensembl chr 9:38,948,184...38,950,803

G

cellular communication network factor 1

ISO

CTD Direct Evidence: marker/mechanism
protein:increased expression:blood serum (human)

PMID:19192274 PMID:34031328

NCBI chr 6:62,443,285...62,446,246
Ensembl chr 6:62,443,675...62,445,994

G

cellular communication network factor 2

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 1:25,508,082...25,511,058
Ensembl chr 1:25,507,662...25,510,145

G

chemokine (C-C motif) receptor 1

ISO

NCBI chr20:42,421,356...42,427,177
Ensembl chr20:42,421,356...42,426,958

G

C-C motif chemokine receptor 3

ISO

protein:increased expression:synovial fluid, neutrophil

NCBI chr20:42,382,380...42,398,449
Ensembl chr20:42,383,135...42,384,217

G

C-C motif chemokine receptor 4

ISO

protein:increased expression:synovial membrane:
mRNA:increased expression:synovium:

PMID:19942450 PMID:25430645

RGD:10054497 RGD:10054499

NCBI chr23:3,844,072...3,847,770
Ensembl chr23:3,844,173...3,845,255

G

C-C motif chemokine receptor 5

resistance
no_association

ISO

DNA:frameshift mutation:cds:p.S185_T195del rs333 (human)

PMID:16541097 PMID:17565662

RGD:1626283 RGD:1626290

NCBI chr20:42,293,288...42,297,952
Ensembl chr20:42,294,996...42,297,952

G

C-C motif chemokine receptor 6

ISO

CTD Direct Evidence: marker/mechanism

PMID:20453841 PMID:20453842 PMID:23143596

NCBI chr 1:54,932,798...54,960,646
Ensembl chr 1:54,932,690...54,959,740

G

CD2 molecule

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr17:54,171,764...54,184,221
Ensembl chr17:54,171,848...54,184,225

G

CD244 molecule

susceptibility

ISO

ClinVar Annotator: match by term: CD244-related condition | ClinVar Annotator: match by term: Rheumatoid arthritis

PMID:18794858 PMID:25741868 PMID:28492532

NCBI chr38:21,495,649...21,522,656
Ensembl chr38:21,495,720...21,517,043

G

CD28 molecule

ISO

CTD Direct Evidence: marker/mechanism

PMID:19075187 PMID:19898481 PMID:20453842 PMID:23143596

NCBI chr37:12,503,849...12,536,362
Ensembl chr37:12,503,811...12,532,854

G

CD3 epsilon subunit of T-cell receptor complex

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 5:15,403,724...15,415,259
Ensembl chr 5:15,403,710...15,415,260

G

CD40 molecule

ISO

DNA:SNP: :rs4810485 (human)
CTD Direct Evidence: marker/mechanism

PMID:18794853 PMID:20453842 PMID:20498205 PMID:23143596

NCBI chr24:33,352,992...33,383,488
Ensembl chr24:33,372,930...33,383,301

G

CD5 molecule

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr18:55,216,415...55,235,567
Ensembl chr18:55,217,276...55,235,405

G

CD80 molecule

ISO

protein:increased expression:serum

NCBI chr33:23,177,136...23,208,421
Ensembl chr33:23,177,138...23,201,380

G

CD83 molecule

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr35:13,489,046...13,507,897
Ensembl chr35:13,489,000...13,507,068

G

cyclin dependent kinase 6

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr14:18,178,352...18,413,869
Ensembl chr14:18,188,429...18,419,869

G

CCAAT enhancer binding protein beta

ISO

protein:increased expression:knee, articular cartilage (human)

NCBI chr24:36,661,294...36,663,162
Ensembl chr24:36,661,616...36,662,656

G

chitinase 3 like 1

severity

ISO

protein:increased secretion:serum (human)

NCBI chr 7:25,620...32,954
Ensembl chr 7:26,316...33,427

G

cholinergic receptor nicotinic alpha 7 subunit

ISO

mRNA,protein:increased expression:joint, spleen:

NCBI chr 3:36,852,082...37,164,930
Ensembl chr 3:36,852,543...36,978,399

G

cholinergic receptor nicotinic gamma subunit

ISO

ClinVar Annotator: match by term: Rheumatoid arthritis

PMID:23261301 PMID:25741868 PMID:28492532

NCBI chr25:44,178,149...44,183,623
Ensembl chr25:44,178,181...44,183,626

G

class II major histocompatibility complex transactivator

no_association
susceptibility

ISO

DNA:polymorphism:promoter:rs3087456, no association in a German cohort
ClinVar Annotator: match by term: Rheumatoid arthritis

RGD
OMIM
ClinVar

PMID:8402893 PMID:9099848 PMID:15821736 PMID:16199547 PMID:16426246 More...

NCBI chr 6:31,774,486...31,837,025
Ensembl chr 6:31,774,609...31,836,820

G

C-type lectin domain family 12 member A

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr27:36,040,574...36,051,249
Ensembl chr27:36,040,577...36,051,184

G

C-type lectin domain containing 16A

ISO

DNA:polymorphism:intron:rs6498169G

NCBI chr 6:31,560,940...31,757,100
Ensembl chr 6:31,562,834...31,757,678

G

collagen type II alpha 1 chain

ISO

CTD Direct Evidence: marker/mechanism

PMID:27028940 PMID:29935983

NCBI chr27:6,756,994...6,787,733
Ensembl chr27:6,756,994...6,787,733

G

ceruloplasmin

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr23:43,969,297...44,033,226
Ensembl chr23:43,969,435...44,030,369

G

C-reactive protein

ISO

protein:increased expression:serum
CTD Direct Evidence: marker/mechanism

PMID:1568518 PMID:22173958

NCBI chr38:22,396,787...22,398,180
Ensembl chr38:22,396,263...22,399,166

G

colony stimulating factor 2

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr11:20,342,880...20,346,959
Ensembl chr11:20,344,648...20,346,959

G

cytotoxic T-lymphocyte associated protein 4

ISO

CTD Direct Evidence: marker/mechanism

PMID:20453842 PMID:23143596

NCBI chr37:12,647,712...12,653,874
Ensembl chr37:12,634,563...12,653,874

G

cathepsin D

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr18:46,010,440...46,019,457
Ensembl chr18:46,010,440...46,019,457

G

C-X3-C motif chemokine ligand 1

ISO

NCBI chr 2:59,022,794...59,032,095
Ensembl chr 2:59,022,794...59,032,095

G

C-X-C motif chemokine ligand 8

ISO

CTD Direct Evidence: marker/mechanism

PMID:17379860 PMID:19192274

NCBI chr13:62,435,035...62,438,354
Ensembl chr13:62,434,422...62,438,354

G

C-X-C motif chemokine receptor 3

ISO

protein:increased expression:synovial fluid, neutrophil

NCBI chr X:55,882,433...55,884,582
Ensembl chr X:55,882,433...55,884,582

G

C-X-C motif chemokine receptor 4

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr19:38,874,650...38,877,740
Ensembl chr19:38,874,145...38,877,740

G

cytochrome b-245 beta chain

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr X:32,533,365...32,568,149
Ensembl chr X:32,533,320...32,568,217

G

DNA damage inducible transcript 4

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 4:22,916,718...22,918,893
Ensembl chr 4:22,916,096...22,964,035

G

DEAD-box helicase 6

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 5:15,001,988...15,034,128
Ensembl chr 5:15,002,246...15,032,348

G

dihydrofolate reductase

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 3:26,521,214...26,556,065

G

major histocompatibility complex, class II, DQ alpha 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr12:2,221,181...2,227,600
Ensembl chr12:2,221,137...2,227,600

G

major histocompatibility complex, class II, DQ beta 1

ISO

DNA:polymorphism (human)

NCBI chr12:2,305,307...2,307,711

G

MHC class II DLA DRB1 beta chain

susceptibility

ISO

DNA:polymorphisms (human)
CTD Direct Evidence: marker/mechanism
DNA:polymorphisms: :multiple (human)
DNA:polymorphism (human)

PMID:11454644 PMID:18512783 PMID:19117368 PMID:19898480 PMID:20453842 More...

RGD:4144826 RGD:5147567 RGD:5147616 RGD:5147860

NCBI chr12:2,151,409...2,164,564

G

deoxyribonuclease 1L3

ISO

CTD Direct Evidence: marker/mechanism

PMID:23143596 PMID:30224649

NCBI chr20:32,350,138...32,379,240
Ensembl chr20:32,358,110...32,379,245

G

DNA methyltransferase 1

severity

ISO

mRNA:increased expression:mononuclear cell

NCBI chr20:50,872,213...50,928,352
Ensembl chr20:50,879,527...50,928,029

G

DNA methyltransferase 3 beta

disease_progression

ISO

DNA:polymorphism:promoter:-283C>T(human)

NCBI chr24:22,096,386...22,123,378
Ensembl chr24:22,096,349...22,122,900

G

endothelin 1

treatment

ISO

NCBI chr35:11,808,892...11,815,383
Ensembl chr35:11,808,892...11,815,383

G

elastin

ISO

NCBI chr 6:6,299,524...6,331,425
Ensembl chr 6:6,300,727...6,331,325

G

enolase 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 5:62,300,805...62,314,508
Ensembl chr 5:62,300,808...62,304,093

G

endothelial PAS domain protein 1

ISO

protein:increased expression:layer of synovial tissue, stromal cell

NCBI chr10:48,550,836...48,636,776
Ensembl chr10:48,551,410...48,634,844

G

establishment of sister chromatid cohesion N-acetyltransferase 2

ISO

mRNA:increased expression:peripheral blood mononuclear cell

NCBI chr25:29,785,641...29,812,536
Ensembl chr25:29,787,132...29,811,112

G

estrogen receptor 2

severity

ISO

DNA:SNP:exon:rs1256049(human)

NCBI chr 8:38,645,917...38,715,347
Ensembl chr 8:38,645,430...38,702,691

G

coagulation factor II, thrombin

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr18:42,782,744...42,799,531
Ensembl chr18:42,782,751...42,799,459

G

Fas cell surface death receptor

susceptibility

ISO

protein:increased expression:serum (human)
DNA:snp:promoter:g.-670A>G (human)

PMID:12148596 PMID:20875116 PMID:23053964

RGD:12903969 RGD:8662433 RGD:8662455

NCBI chr26:38,738,811...38,763,298
Ensembl chr26:38,737,611...38,763,321

G

Fas ligand

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 7:26,335,837...26,344,224
Ensembl chr 7:26,335,846...26,344,224

G

Fc fragment of IgG receptor Ia

ISO

protein:increased expression:synovial joint:

NCBI chr17:59,073,139...59,102,023
Ensembl chr17:59,092,933...59,102,015

G

FKBP prolyl isomerase 5

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr12:4,724,668...4,833,691
Ensembl chr12:4,727,497...4,833,323

G

forkhead box O3

ISO

mRNA,protein:increased expression:peripheral blood mononuclear cell, polymorphonuclear cell,synovium:

NCBI chr12:65,552,455...65,673,467
Ensembl chr12:65,552,310...65,670,198

G

forkhead box P3

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr X:42,331,229...42,362,841
Ensembl chr X:42,344,108...42,350,758

G

folylpolyglutamate synthase

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 9:55,590,092...55,612,639
Ensembl chr 9:55,585,970...55,599,028

G

GATA binding protein 3

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 2:28,068,143...28,098,445
Ensembl chr 2:28,069,051...28,087,760

G

GC vitamin D binding protein

ISO

protein:decreased expression:plasma
CTD Direct Evidence: marker/mechanism

PMID:3874814 PMID:9548303

NCBI chr13:60,795,305...60,828,038
Ensembl chr13:60,795,305...60,827,929

G

growth differentiation factor 5

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr24:24,395,699...24,400,302
Ensembl chr24:24,395,263...24,399,928

G

gamma-glutamyl hydrolase

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr29:13,143,881...13,165,028
Ensembl chr29:13,134,232...13,165,028

G

gypsy retrotransposon integrase 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 3:8,088,719...8,116,461
Ensembl chr 3:8,088,515...8,116,436

G

G protein-coupled receptor class C group 5 member A

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr27:33,438,196...33,460,062
Ensembl chr27:33,441,527...33,460,377

G

G protein-coupled receptor kinase 2

ISO

protein: decreased expression: mononuclear leukocytes
CTD Direct Evidence: marker/mechanism
DNA: deletion: : heterozygous

PMID:10094932 PMID:18662895

RGD:5688373 RGD:5688380

NCBI chr18:50,148,566...50,167,422
Ensembl chr18:50,148,598...50,167,428

G

G protein-coupled receptor kinase 5

no_association

ISO

protein: : mononuclear blood cells
DNA: deletion::GRK2 and GRK6 deletions resulted in more severe arthritis

PMID:10094932 PMID:18662895

RGD:5688373 RGD:5688380

NCBI chr28:29,424,350...29,636,552
Ensembl chr28:29,424,593...29,632,741

G

G protein-coupled receptor kinase 6

ISO

CTD Direct Evidence: marker/mechanism
DNA: deletion: : homozygous
protein: decreased expression: mononuclear leukocytes

PMID:10094932 PMID:18662895

RGD:5688373 RGD:5688380

NCBI chr 4:35,927,470...35,943,218
Ensembl chr 4:35,913,472...35,943,221

G

gasdermin E

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr14:38,210,975...38,286,729
Ensembl chr14:38,211,540...38,292,280

G

hyaluronan and proteoglycan link protein 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 3:23,999,148...24,077,935
Ensembl chr 3:23,998,545...24,074,580

G

hematopoietic cell-specific Lyn substrate 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr33:24,901,023...24,925,710
Ensembl chr33:24,901,287...24,922,923

G

histone deacetylase 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 2:68,901,339...68,936,473
Ensembl chr 2:68,901,651...68,936,186

G

homeostatic iron regulator

ISO

DNA:missense mutation: :p.C282Y (rs1800562) (human)

NCBI chr35:24,031,479...24,038,922
Ensembl chr35:24,031,387...24,042,413

G

hepatocyte growth factor

disease_progression

ISO

protein:increased expression:serum:

NCBI chr18:21,329,688...21,410,257
Ensembl chr18:21,332,817...21,410,263

G

hypoxia inducible factor 1 subunit alpha

ISO

protein:increased expression:layer of synovial tissue, stromal cell

NCBI chr 8:36,614,045...36,656,692
Ensembl chr 8:36,614,045...36,656,692

G

heterogeneous nuclear ribonucleoprotein A2/B1

severity

ISO

NCBI chr14:39,498,805...39,509,034
Ensembl chr14:39,500,897...39,508,952

G

homeobox D10

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr36:19,924,352...19,927,706
Ensembl chr36:19,916,175...19,927,724

G

homeobox D11

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr36:19,913,064...19,926,868
Ensembl chr36:19,914,431...19,916,766

G

homeobox D13

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr36:19,901,184...19,903,837

G

hydroxysteroid 11-beta dehydrogenase 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 7:8,344,380...8,409,901
Ensembl chr 7:8,344,447...8,409,897

G

heat shock protein 90 alpha family class A member 1

ISO

mRNA:increased expression:peripheral blood leukocyte:

NCBI chr 8:70,091,203...70,096,107
Ensembl chr 8:70,092,217...70,095,243

G

heat shock protein family A (Hsp70) member 4

ISO

protein:increased expression:peripheral blood lymphocyte (human)

NCBI chr11:21,290,603...21,363,701
Ensembl chr11:21,290,621...21,505,122

G

heat shock protein family A (Hsp70) member 5

ISO

protein:increased expression:synovial joint

NCBI chr 9:57,850,870...57,855,607
Ensembl chr 9:57,850,922...57,855,257

G

heat shock protein family A (Hsp70) member 9

ISO

protein:increased expression:synovial cell:

NCBI chr11:26,122,917...26,142,458
Ensembl chr11:26,121,499...26,142,434

G

heat shock protein family B (small) member 1

ISO

protein:increased expression:serum:

NCBI chr 6:7,487,164...7,488,576
Ensembl chr 6:7,487,250...7,488,576

G

heat shock protein family D (Hsp60) member 1

ISO

mRNA:increased expression:peripheral blood leukocyte:

NCBI chr37:7,010,421...7,025,912

G

interferon gamma

treatment

ISO

CTD Direct Evidence: marker/mechanism
mRNA:increased expression:synovial (human)

PMID:1417133 PMID:22450443 PMID:22660635

RGD:155663483 RGD:8157623

NCBI chr10:10,406,866...10,411,698
Ensembl chr10:10,406,867...10,411,698

G

insulin like growth factor 2

ISO

DNA:loss of imprinting:synovial cell
protein:decreased expression:plasma

PMID:11247331 PMID:19556211

RGD:5510001 RGD:5510014

NCBI chr18:46,294,036...46,311,982
Ensembl chr18:46,294,019...46,311,982

G

insulin like growth factor binding protein 3

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr16:1,021,855...1,027,604
Ensembl chr16:1,021,972...1,026,392

G

IKAROS family zinc finger 3

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 9:22,643,482...22,733,988
Ensembl chr 9:22,643,640...22,728,385

G

interleukin 10

ISO

ClinVar Annotator: match by term: RHEUMATOID ARTHRITIS, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Rheumatoid arthritis, progression of

PMID:12847677 PMID:25741868 PMID:28492532

NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057

G

interleukin 13

ISO

protein:increased expression:serum

NCBI chr11:20,957,870...20,961,391
Ensembl chr11:20,958,464...20,961,388

G

interleukin 17A

treatment

ISO

mRNA:increased expression:synovial (human)

PMID:20926833 PMID:22660635

RGD:155663483 RGD:9068415

NCBI chr12:19,854,129...19,862,521
Ensembl chr12:19,854,129...19,862,513

G

interleukin 18

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 5:20,972,742...20,995,327
Ensembl chr 5:20,972,871...20,995,348

G

interleukin 19

ISO

ClinVar Annotator: match by term: RHEUMATOID ARTHRITIS, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Rheumatoid arthritis, progression of

PMID:12847677 PMID:25741868 PMID:28492532

NCBI chr 7:6,000,994...6,006,959
Ensembl chr 7:6,000,907...6,006,870

G

interleukin 1 alpha

severity

ISO

protein:increased expression:plasma, synovial fluid
associated with lung disease, interstitial

PMID:8162643 PMID:11192540

RGD:4142818 RGD:7794716

NCBI chr17:36,969,581...36,979,445
Ensembl chr17:36,970,573...36,979,435

G

interleukin 1 beta

ISO

protein:decreased expression:serum
mRNA:increased expression:synovial (human)
CTD Direct Evidence: marker/mechanism

PMID:12566094 PMID:17379860 PMID:22414257 PMID:22450443 PMID:22660635

RGD:155663483 RGD:6482656

NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458

G

interleukin 1 receptor antagonist

ISO

CTD Direct Evidence: marker/mechanism|therapeutic

PMID:7706905 PMID:10637275 PMID:19192274 PMID:19447938

RGD:7174696 RGD:8549810

NCBI chr17:37,236,690...37,250,424
Ensembl chr17:37,212,751...37,249,329

G

interleukin 2

ISO

NCBI chr19:17,750,780...17,756,394
Ensembl chr19:17,750,780...17,756,394

G

interleukin 20

ISO

NCBI chr 7:6,019,879...6,022,707
Ensembl chr 7:6,019,442...6,023,219

G

interleukin 21 receptor

ISO

NCBI chr 6:19,181,846...19,217,915
Ensembl chr 6:19,182,071...19,217,931

G

interleukin 23 subunit alpha

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr10:635,384...640,715
Ensembl chr10:638,719...640,359

G

interleukin 23 receptor

susceptibility

ISO

DNA:SNP::rs1343151(human)

NCBI chr 5:43,307,422...43,369,806
Ensembl chr 5:43,308,982...43,368,474

G

interleukin 2 receptor subunit alpha

ISO

CTD Direct Evidence: marker/mechanism

PMID:20453842 PMID:20476861 PMID:23143596

NCBI chr 2:29,892,130...29,948,926
Ensembl chr 2:29,894,125...29,944,643

G

interleukin 2 receptor subunit beta

ISO

CTD Direct Evidence: marker/mechanism

PMID:20453842 PMID:23143596

NCBI chr10:27,370,797...27,388,775
Ensembl chr10:27,370,797...27,388,775

G

interleukin 3

ISO

DNA: SNPs: Multiple: gene-gene interaction

NCBI chr11:20,330,480...20,332,668
Ensembl chr11:20,330,480...20,332,668

G

interleukin 4 receptor

severity

ISO

DNA:SNP: :rs1805010 (human)

NCBI chr 6:19,254,183...19,280,973
Ensembl chr 6:19,254,487...19,389,291

G

interleukin 5

ISO

NCBI chr11:20,825,469...20,827,269
Ensembl chr11:20,825,469...20,827,269

G

interleukin 6

ISO

CTD Direct Evidence: marker/mechanism

PMID:19192274 PMID:22450443

NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519

G

interleukin 6 receptor

ISO

CTD Direct Evidence: marker/mechanism|therapeutic

PMID:16729287 PMID:23143596

NCBI chr 7:42,877,731...42,920,149
Ensembl chr 7:42,880,885...42,920,090

G

interleukin 6 cytokine family signal transducer

ISO

CTD Direct Evidence: marker/mechanism
OMIM:180300

NCBI chr 2:43,214,050...43,273,014
Ensembl chr 2:43,214,050...43,248,124

G

interleukin 1 receptor associated kinase 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr X:121,853,340...121,862,582
Ensembl chr X:121,819,432...121,862,576

G

interferon regulatory factor 5

ISO

ClinVar Annotator: match by term: Rheumatoid arthritis

PMID:15657875 PMID:16642019 PMID:17599733 PMID:18063667 PMID:25741868

NCBI chr14:7,724,168...7,734,976
Ensembl chr14:7,724,780...7,742,795

G

interferon regulatory factor 8

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 5:66,789,264...66,812,477
Ensembl chr 5:66,791,350...66,842,179

G

integrin subunit alpha 6

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr36:16,777,363...16,858,725
Ensembl chr36:16,776,863...16,855,449

G

inosine triphosphatase

treatment

ISO

DNA:SNP: :94C>A(human)

NCBI chr24:18,070,980...18,081,815
Ensembl chr24:18,064,983...18,082,163

G

Janus kinase 2

ISO

NCBI chr 1:93,321,055...93,438,898
Ensembl chr 1:93,142,635...93,435,997

G

lysine acetyltransferase 2B

ISO

mRNA:increased expression:peripheral blood mononuclear cell

NCBI chr23:23,166,722...23,242,447
Ensembl chr23:23,168,600...23,233,478

G

kinesin family member 5A

susceptibility

ISO

DNA:snp:intron:c.1717-152C>G (rs1678542) (human)
DNA:snps:intron, 3' utr:c.2756-43A>C, c.*776C>T (rs775246, rs775251) (human)
CTD Direct Evidence: marker/mechanism

PMID:21784728 PMID:23143596 PMID:23378462

RGD:12793072 RGD:12793073

NCBI chr10:1,637,007...1,666,790
Ensembl chr10:1,636,932...1,664,767

G

lysine methyltransferase 2C

treatment

ISO

NCBI chr16:15,962,045...16,117,601
Ensembl chr16:15,963,901...16,158,408

G

lipocalin 2

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 9:55,328,118...55,342,535
Ensembl chr 9:55,328,133...55,332,038

G

LIM homeobox 2

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 9:58,825,505...58,859,311
Ensembl chr 9:58,825,492...58,845,883

G

low affinity immunoglobulin gamma Fc region receptor III

susceptibility

ISO

DNA:CNVs
protein:decreased expression:NK cell
DNA:polymorphism:exon:p.F158V(rs396991)(human)

PMID:15334114 PMID:19019892 PMID:25154742

RGD:11344974 RGD:5508391 RGD:5508467

NCBI chr38:21,054,870...21,060,948

G

complement C4-A

ISO

NCBI chr12:1,433,185...1,448,056

G

trifunctional purine biosynthetic protein adenosine-3

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr31:29,032,399...29,063,706

G

midkine

ISO

NCBI chr 9:55,100,491...55,101,081

G

leucine rich repeat kinase 2

ISO

NCBI chr27:13,282,824...13,420,917
Ensembl chr27:13,283,756...13,420,870

G

lymphocyte antigen 96

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr29:22,493,757...22,515,147
Ensembl chr29:22,493,896...22,515,117

G

mab-21 like 2

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr15:48,538,912...48,541,651
Ensembl chr15:48,539,955...48,541,034

G

myristoylated alanine rich protein kinase C substrate

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr12:69,980,003...69,987,150
Ensembl chr12:69,980,433...69,984,848

G

methyl-CpG binding domain protein 2

ISO

mRNA:increased expression:mononuclear cell

NCBI chr 1:21,232,260...21,283,687
Ensembl chr 1:21,235,967...21,283,346

G

methyl-CpG binding domain 4, DNA glycosylase

susceptibility
no_association

ISO

DNA:snps:introns:IVS5-140A>G (rs3138355), IVS6-218C>T (rs2005618) (human)
DNA:snps:cds, intron:p.E346K, IVS6-218C>T (rs140693, rs2005618) (human)

PMID:20676650 PMID:22505706

RGD:9588977 RGD:9588978

NCBI chr20:5,716,162...5,725,068
Ensembl chr20:5,716,239...5,724,881

G

mitochondria localized glutamic acid rich protein

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr19:3,411,718...3,423,589
Ensembl chr19:3,411,778...3,423,330

G

macrophage migration inhibitory factor

ISO

CTD Direct Evidence: marker/mechanism

G

microRNA mir-23b

ISO

mRNA, protein:decreased expression:synovial (human)

NCBI chr 1:71,678,353...71,678,406
Ensembl chr 1:71,678,346...71,678,416

G

membrane metalloendopeptidase like 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 5:57,434,880...57,467,973
Ensembl chr 5:57,434,886...57,465,911

G

matrix metallopeptidase 1

ISO

protein:increased expression:plasma (human)

NCBI chr 5:28,978,385...28,986,644
Ensembl chr 5:28,978,473...28,986,648

G

matrix metallopeptidase 12

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 5:28,918,626...28,933,404
Ensembl chr 5:28,918,594...28,933,309

G

matrix metallopeptidase 14

ISO

OMIM:180300

NCBI chr 8:3,183,419...3,193,079
Ensembl chr 8:3,183,606...3,194,122

G

matrix metallopeptidase 2

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 2:60,471,092...60,492,991
Ensembl chr 2:60,471,257...60,494,113

G

matrix metallopeptidase 3 (stromelysin 1, progelatinase)

disease_progression

ISO

protein:increased expression:serum (human)

PMID:7639798 PMID:11796404 PMID:22314025

RGD:7207128 RGD:7241254 RGD:8693673

NCBI chr 5:28,949,631...28,957,915
Ensembl chr 5:28,949,631...28,958,222

G

matrix metallopeptidase 8

ISO

protein:increased expression:synovial fluid, serum (human)

NCBI chr 5:29,036,381...29,047,180
Ensembl chr 5:29,035,820...29,046,808

G

matrix metallopeptidase 9

ISO

NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293

G

myeloperoxidase

ISO

CTD Direct Evidence: marker/mechanism

PMID:22450443 PMID:26001728

NCBI chr 9:32,927,483...32,938,007
Ensembl chr 9:32,927,483...32,937,820

G

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1

ISO

DNA:missense mutations:cds:multiple (human)

NCBI chr MT:2,747...3,702
Ensembl chr MT:2,747...3,703

G

methylenetetrahydrofolate reductase

ISO

DNA:SNP: :677C>T(human)
CTD Direct Evidence: marker/mechanism

PMID:22104130 PMID:23685257

NCBI chr 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818

G

neutrophil cytosolic factor 1

induced

ISO

CTD Direct Evidence: marker/mechanism
DNA:polymorphism:M153T (rat)

PMID:12833524 PMID:21275845 PMID:28135245

NCBI chr 6:5,702,222...5,719,515
Ensembl chr 6:5,605,694...5,719,458

G

neutrophil cytosolic factor 2

ISO

CTD Direct Evidence: marker/mechanism
DNA:polymorphism, SNP:cds (rs789181) (human)

PMID:12833524 PMID:17897462

NCBI chr 7:16,914,629...16,946,370
Ensembl chr 7:16,904,031...16,945,372

G

neutrophil cytosolic factor 4

ISO

DNA:polymorphism, SNP:cds (rs729749) (human)

NCBI chr10:27,597,296...27,672,199
Ensembl chr10:27,597,486...27,615,261

G

NDUFA4 mitochondrial complex associated like 2

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr10:1,362,479...1,365,203
Ensembl chr10:1,362,577...1,364,515

G

NFKB inhibitor epsilon

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr12:12,668,664...12,674,146

G

NFKB inhibitor like 1

susceptibility

ISO

ClinVar Annotator: match by term: Rheumatoid arthritis

PMID:12509789 PMID:25741868

NCBI chr12:1,048,393...1,057,458
Ensembl chr12:1,049,109...1,057,237

G

notch receptor 4

ISO

mRNA : increased expression: : cd4+ cells

NCBI chr12:1,585,249...1,608,721
Ensembl chr12:1,587,918...1,607,760

G

neuropeptide S receptor 1

ISO

NCBI chr14:46,465,169...46,610,256
Ensembl chr14:46,466,544...46,609,477

G

nuclear receptor subfamily 3 group C member 1

ISO

mRNA:increased expression:paw

NCBI chr 2:38,124,568...38,242,510
Ensembl chr 2:38,123,190...38,240,755

G

nuclear receptor subfamily 4 group A member 3

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr11:56,806,506...56,846,997
Ensembl chr11:56,812,804...56,847,689

G

opioid receptor mu 1

susceptibility

ISO

DNA:missense mutation:exon:p.N40D (118A>G) (rs 1799971) (human)

NCBI chr 1:43,972,915...44,037,477
Ensembl chr 1:43,972,219...44,141,238

G

peptidyl arginine deiminase 2

ISO

ClinVar Annotator: match by term: Rheumatoid arthritis

NCBI chr 2:81,116,031...81,147,889
Ensembl chr 2:81,116,140...81,145,043

G

peptidyl arginine deiminase 4

ISO

ClinVar Annotator: match by term: Rheumatoid arthritis

NCBI chr 2:80,912,814...80,942,767
Ensembl chr 2:80,905,391...80,993,973

G

platelet derived growth factor subunit B

ISO

NCBI chr10:25,798,877...25,819,422
Ensembl chr10:25,798,938...25,817,746

G

placental growth factor

ISO

NCBI chr 8:48,059,554...48,110,534
Ensembl chr 8:48,059,552...48,075,170

G

phosphoinositide-3-kinase regulatory subunit 1

ISO

mRNA:increased expression:cartilage tissue (human)

NCBI chr 2:53,447,802...53,527,563
Ensembl chr 2:53,448,286...53,524,970

G

phospholipase A2 group VII

ISO

NCBI chr12:14,866,229...14,908,230
Ensembl chr12:14,866,229...14,908,114

G

plasminogen activator, urokinase receptor

ISO

NCBI chr 1:111,476,804...111,490,876
Ensembl chr 1:111,476,893...111,490,880

G

phospholipase B1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr17:22,420,679...22,558,318
Ensembl chr17:22,440,651...22,557,737

G

phospholipase D family member 4

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 8:72,410,076...72,417,681
Ensembl chr 8:72,416,637...72,417,384

G

pleckstrin

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr10:67,395,972...67,421,247
Ensembl chr10:67,395,972...67,421,247

G

paraoxonase 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr14:20,565,620...20,600,774
Ensembl chr14:20,565,641...20,642,985

G

POU class 3 homeobox 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr15:4,547,868...4,549,469
Ensembl chr15:4,547,920...4,549,469

G

PR/SET domain 1

ISO

CTD Direct Evidence: marker/mechanism

PMID:19898481 PMID:20453842 PMID:23143596 PMID:36181686

NCBI chr12:63,454,242...63,495,278
Ensembl chr12:63,470,974...63,495,579

G

protein kinase C theta

ISO

CTD Direct Evidence: marker/mechanism

PMID:18794853 PMID:20453842 PMID:23143596

NCBI chr 2:29,319,123...29,505,338
Ensembl chr 2:29,318,870...29,505,337

G

prostaglandin-endoperoxide synthase 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 9:60,195,118...60,216,847
Ensembl chr 9:60,195,124...60,216,819

G

prostaglandin-endoperoxide synthase 2

ISO

CTD Direct Evidence: marker/mechanism

PMID:11978490 PMID:19192274 PMID:21905970

NCBI chr 7:19,668,079...19,674,903
Ensembl chr 7:19,668,082...19,674,903

G

protein tyrosine kinase 2

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr13:35,302,439...35,541,336
Ensembl chr13:35,303,380...35,541,294

G

protein tyrosine phosphatase non-receptor type 2

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 7:78,160,564...78,252,382
Ensembl chr 7:78,160,589...78,252,719

G

protein tyrosine phosphatase non-receptor type 22

susceptibility
no_association

ISO

ClinVar Annotator: match by term: Rheumatoid arthritis
DNA:SNP::1858C>T (human)

OMIM
ClinVar
RGD

PMID:21467606 PMID:25741868

NCBI chr17:51,623,628...51,683,039
Ensembl chr17:51,623,623...51,682,858

G

protein tyrosine phosphatase receptor type C

ISO

CTD Direct Evidence: marker/mechanism

PMID:20453842 PMID:23143596

NCBI chr 7:4,155,876...4,282,151
Ensembl chr 7:4,137,728...4,282,124

G

PX domain containing serine/threonine kinase like

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr20:32,138,320...32,272,767
Ensembl chr20:32,193,339...32,272,774

G

RAB8A, member RAS oncogene family

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr20:46,334,601...46,351,907
Ensembl chr20:46,334,601...46,351,907

G

RAP2A, member of RAS oncogene family

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr22:47,777,621...47,814,061
Ensembl chr22:47,778,780...47,810,802

G

RAS guanyl releasing protein 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr30:5,840,901...5,914,804
Ensembl chr30:5,841,738...5,914,810

G

recombination signal binding protein for immunoglobulin kappa J region

ISO

CTD Direct Evidence: marker/mechanism

PMID:20453842 PMID:23143596

NCBI chr 3:84,060,417...84,286,008
Ensembl chr 3:84,064,440...84,286,360

G

regulator of calcineurin 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr31:29,908,046...30,002,412
Ensembl chr31:29,909,388...30,002,418

G

REL proto-oncogene, NF-kB subunit

ISO

CTD Direct Evidence: marker/mechanism

PMID:19503088 PMID:20453842 PMID:23143596

NCBI chr10:60,990,264...61,030,162
Ensembl chr10:60,990,197...61,023,663

G

repulsive guidance molecule BMP co-receptor b

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 3:11,407,426...11,427,317

G

RUNX family transcription factor 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr31:30,170,859...30,420,344
Ensembl chr31:30,170,605...30,420,839

G

RUNX family transcription factor 2

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr12:13,723,535...13,842,565
Ensembl chr12:13,628,539...13,840,785
Ensembl chr12:13,628,539...13,840,785

G

semaphorin 3C

ISO

protein:increased expression:knee, synovium (human)

NCBI chr18:20,457,683...20,748,008
Ensembl chr18:20,459,925...20,635,276

G

solute carrier family 11 member 1

severity

ISO

DNA:polymorphisms, deletion: :823C>T, p.D543N (human)
DNA:polymorphism:promoter (human)
CTD Direct Evidence: marker/mechanism

PMID:10719815 PMID:12135431 PMID:16597321

RGD:5684967 RGD:5684971

NCBI chr37:25,039,203...25,047,461
Ensembl chr37:25,038,360...25,047,282

G

solute carrier family 22 member 4

susceptibility

ISO

ClinVar Annotator: match by term: Rheumatoid arthritis | ClinVar Annotator: match by term: SLC22A4-related condition

PMID:14608356 PMID:19881261 PMID:25741868 PMID:26467025 PMID:28492532

NCBI chr11:20,599,281...20,643,893

G

solute carrier family 25 member 12

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr36:16,185,011...16,391,080
Ensembl chr36:16,185,649...16,483,016

G

spermine synthase

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr X:17,749,020...17,803,351
Ensembl chr X:17,749,530...17,802,999

G

superoxide dismutase 2

ISO

CTD Direct Evidence: marker/mechanism

PMID:12833524 PMID:15292528 PMID:24313545

NCBI chr 1:48,943,472...48,955,158
Ensembl chr 1:48,836,262...48,955,706

G

secreted phosphoprotein 1

ISO

NCBI chr32:11,354,070...11,362,325
Ensembl chr32:11,353,953...11,362,069

G

sprouty related EVH1 domain containing 2

ISO

CTD Direct Evidence: marker/mechanism

PMID:20453842 PMID:23143596

NCBI chr10:64,764,275...64,815,937
Ensembl chr10:64,764,311...64,867,009

G

ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 5

ISO

CTD Direct Evidence: marker/mechanism

PMID:17379860 PMID:17568789

NCBI chr 6:69,706,717...69,867,760
Ensembl chr 6:69,709,114...69,867,648

G

signal transducer and activator of transcription 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr37:1,513,438...1,549,837
Ensembl chr37:1,507,219...1,550,178

G

signal transducer and activator of transcription 3

ISO

associated with T-cell large granular lymphocyte leukemia

NCBI chr 9:20,539,660...20,614,631
Ensembl chr 9:20,539,697...20,612,672

G

signal transducer and activator of transcription 4

ISO

CTD Direct Evidence: marker/mechanism

PMID:20453842 PMID:23143596

NCBI chr37:1,566,563...1,685,378
Ensembl chr37:1,566,585...1,829,894

G

steroid sulfatase

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr X:4,396,867...4,470,093
Ensembl chr X:4,325,665...4,467,284

G

SPT20 homolog, SAGA complex component

ISO

ClinVar Annotator: match by term: Rheumatoid arthritis

NCBI chr25:3,658,528...3,698,487
Ensembl chr25:3,658,795...3,701,763

G

TGF-beta activated kinase 1 (MAP3K7) binding protein 2

ISO

mRNA, protein:increased expression:synovial (human)

NCBI chr 1:40,125,842...40,216,455
Ensembl chr 1:40,149,569...40,215,385

G

TGF-beta activated kinase 1 (MAP3K7) binding protein 3

ISO

mRNA, protein:increased expression:synovial (human)

NCBI chr X:25,950,071...26,039,180
Ensembl chr X:25,954,145...26,008,169

G

T cell activation RhoGTPase activating protein

ISO

CTD Direct Evidence: marker/mechanism

PMID:20453842 PMID:23143596

NCBI chr 1:48,382,688...48,392,977
Ensembl chr 1:48,383,504...48,392,188

G

transporter 2, ATP binding cassette subfamily B member

ISO

NCBI chr12:2,407,512...2,417,469
Ensembl chr12:2,378,126...2,432,303

G

tissue factor pathway inhibitor 2

ISO

CTD Direct Evidence: marker/mechanism

PMID:15292528 PMID:17379860

NCBI chr14:19,399,259...19,403,890
Ensembl chr14:19,399,720...19,403,708

G

thrombomodulin

ISO

NCBI chr24:599,773...601,649
Ensembl chr24:599,773...601,649

G

TLE family member 3, transcriptional corepressor

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr30:33,803,719...33,895,204
Ensembl chr30:33,803,734...33,896,525

G

toll like receptor 1

ISO

ClinVar Annotator: match by term: Rheumatoid arthritis

NCBI chr 3:73,504,359...73,544,822
Ensembl chr 3:73,539,715...73,544,624

G

toll like receptor 2

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr15:51,454,557...51,465,429
Ensembl chr15:51,454,695...51,465,241

G

thymopoietin

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr15:37,923,392...37,959,979
Ensembl chr15:37,932,891...37,959,246

G

tumor necrosis factor

treatment
no_association

ISO

mRNA:increased expression:synovial (human)
OMIM:180300
CTD Direct Evidence: marker/mechanism|therapeutic
DNA:SNP:promoter:-238G>A, -308G>A (human)
DNA:SNP:promoter:-857C>T (human)

RGD
MouseDO
CTD

PMID:2001072 PMID:8391952 PMID:12563673 PMID:12566094 PMID:22450443 More...

RGD:10450537 RGD:12904065 RGD:155663483

NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425

G

TNF alpha induced protein 2

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 8:70,965,776...70,977,807
Ensembl chr 8:70,967,741...70,976,396

G

TNF alpha induced protein 3

ISO

CTD Direct Evidence: marker/mechanism

PMID:18794853 PMID:20453842 PMID:21841782 PMID:23143596 PMID:30224649

NCBI chr 1:30,247,432...30,262,992
Ensembl chr 1:30,251,059...30,261,001

G

TNF receptor superfamily member 11b

ISO

CTD Direct Evidence: therapeutic

NCBI chr13:18,155,765...18,183,263
Ensembl chr13:18,156,367...18,183,444

G

TNF receptor superfamily member 14

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 5:57,386,190...57,416,864
Ensembl chr 5:57,411,529...57,416,512

G

TNF receptor superfamily member 1A

treatment

ISO

DNA:SNP:promoter:36G>A (human)

NCBI chr27:38,641,837...38,654,693
Ensembl chr27:38,638,753...38,700,282

G

TNF superfamily member 14

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr20:53,604,101...53,607,522
Ensembl chr20:53,603,709...53,607,522

G

TNF receptor associated factor 1

ISO

CTD Direct Evidence: marker/mechanism

PMID:18794853 PMID:23143596

NCBI chr11:73,920,729...73,939,644
Ensembl chr11:73,927,007...73,937,655

G

TNF receptor associated factor 6

ISO

CTD Direct Evidence: marker/mechanism

PMID:20453842 PMID:23143596

NCBI chr18:31,674,242...31,689,160
Ensembl chr18:31,675,391...31,688,641

G

triggering receptor expressed on myeloid cells 1

treatment

ISO

NCBI chr12:9,990,678...10,000,195
Ensembl chr12:9,990,679...10,000,236

G

thioredoxin domain containing 5

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr35:7,834,135...7,854,836
Ensembl chr35:7,834,331...7,854,852

G

thioredoxin interacting protein

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr17:58,775,588...58,779,730
Ensembl chr17:58,776,871...58,779,531

G

tyrosine kinase 2

ISO

CTD Direct Evidence: marker/mechanism

PMID:23143596 PMID:30224649

NCBI chr20:50,747,145...50,770,008
Ensembl chr20:50,748,329...50,769,216

G

thymidylate synthetase

treatment

ISO

DNA:polymorphism: :

NCBI chr 7:67,487,927...67,497,747
Ensembl chr 7:67,487,927...67,497,747

G

transmembrane immune signaling adaptor TYROBP

treatment

ISO

NCBI chr 1:116,757,271...116,760,453
Ensembl chr 1:116,757,289...116,772,325

G

vitamin D receptor

no_association

ISO

DNA:SNP:exon:rs2228570 (human)
DNA:SNP: :rs1544410 (human)

NCBI chr27:6,852,915...6,909,466
Ensembl chr27:6,852,723...6,909,470

G

vascular endothelial growth factor A

disease_progression

ISO

CTD Direct Evidence: marker/mechanism
protein:increased expression:serum:

PMID:16368150 PMID:24387171

NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965

G

vimentin

ISO

NCBI chr 2:19,671,316...19,679,367
Ensembl chr 2:19,671,316...19,679,466

G

zeta chain of T cell receptor associated protein kinase 70

ISO

OMIM:180300

NCBI chr10:44,887,416...44,913,845
Ensembl chr10:44,887,433...44,900,071

G

ZFP36 ring finger protein

ISO

OMIM:180300

NCBI chr 1:113,815,972...113,818,093
Ensembl chr 1:113,816,273...113,818,065

adult-onset Still's disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

hepatocyte growth factor

ISO

protein:increased expression:serum:

NCBI chr18:21,329,688...21,410,257
Ensembl chr18:21,332,817...21,410,263

G

vascular endothelial growth factor A

ISO

protein:increased expression:serum:

NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965

Juvenile Pauciarticular Chronic Arthritis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

MHC class II DLA DRB1 beta chain

susceptibility

ISO

DNA:polymorphism: :HLA-DRB1*1104, HLA-DRB1*080(human)

NCBI chr12:2,151,409...2,164,564

juvenile rheumatoid arthritis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

acid phosphatase 3

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr23:29,294,641...29,353,970
Ensembl chr23:29,294,843...29,343,499

G

acrosin binding protein

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr27:38,380,244...38,388,502
Ensembl chr27:38,380,363...38,388,496

G

adenylate cyclase 7

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 2:65,003,891...65,034,812
Ensembl chr 2:65,006,038...65,034,777

G

arachidonate 12-lipoxygenase, 12S type

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 5:32,026,193...32,038,698
Ensembl chr 5:31,882,501...32,038,119

G

ankyrin repeat domain 9

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 8:70,441,493...70,445,555
Ensembl chr 8:70,441,587...70,443,987

G

aminopeptidase O (putative)

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 1:71,770,687...72,009,374
Ensembl chr 1:71,677,068...72,009,395

G

apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3Z1

ISO

CTD Direct Evidence: marker/mechanism

G

aquaporin 9

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr30:23,223,413...23,271,893
Ensembl chr30:23,225,331...23,269,076

G

amphiregulin

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr13:62,925,761...62,936,753
Ensembl chr13:62,926,301...62,936,738

G

ArfGAP with SH3 domain, ankyrin repeat and PH domain 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr13:27,111,785...27,468,476
Ensembl chr13:27,113,994...27,430,758

G

AVL9 cell migration associated

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr14:44,881,279...44,914,680
Ensembl chr14:44,882,259...44,914,624

G

beta-1,4-galactosyltransferase 5

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr24:36,220,973...36,241,482
Ensembl chr24:36,221,189...36,300,804

G

BEN domain containing 2

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr X:14,263,152...14,324,882
Ensembl chr X:14,265,296...14,333,751

G

bridge-like lipid transfer protein family member 3B

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr15:39,215,209...39,311,999
Ensembl chr15:39,217,887...39,311,999

G

BTG anti-proliferation factor 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr15:32,646,520...32,648,222
Ensembl chr15:32,647,472...32,647,762

G

BTG anti-proliferation factor 3

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr31:14,079,228...14,117,347
Ensembl chr31:14,079,652...14,095,265

G

chromosome 37 C2orf88 homolog

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr37:611,530...840,144
Ensembl chr37:836,416...836,703

G

complement C8 beta chain

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 5:52,535,359...52,574,872
Ensembl chr 5:52,532,481...52,574,182

G

C9orf72-SMCR8 complex subunit

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr11:45,664,942...45,688,777
Ensembl chr11:45,666,293...45,688,780

G

caldesmon 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr16:13,087,419...13,279,648
Ensembl chr16:13,084,109...13,279,384

G

calmodulin regulated spectrin associated protein 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 9:49,458,701...49,523,056
Ensembl chr 9:49,458,694...49,521,332

G

coiled-coil domain containing 122

ISO

ClinVar Annotator: match by term: JUVENILE ARTHRITIS

NCBI chr22:7,004,022...7,047,249
Ensembl chr22:7,003,850...7,046,952

G

C-C motif chemokine receptor 5

no_association

ISO

DNA:polymorphisms: :multiple (human)
DNA:frameshift mutation:cds:p.S185_T195del rs333 (human)

PMID:16775617 PMID:17565662

RGD:1626283 RGD:1626284

NCBI chr20:42,293,288...42,297,952
Ensembl chr20:42,294,996...42,297,952

G

CD14 molecule

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 2:35,790,505...35,792,967

G

CD83 molecule

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr35:13,489,046...13,507,897
Ensembl chr35:13,489,000...13,507,068

G

CD8 subunit beta

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr17:38,342,897...38,358,127

G

class II major histocompatibility complex transactivator

no_association
susceptibility

ISO

DNA:polymorphism:promoter:rs3087456, no association in a German cohort
DNA:polymorphism:exon:1614G>C (human)

PMID:16426246 PMID:17661914

RGD:5491187 RGD:5491189

NCBI chr 6:31,774,486...31,837,025
Ensembl chr 6:31,774,609...31,836,820

G

clusterin

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr25:29,982,811...29,999,565
Ensembl chr25:29,982,811...29,999,563

G

CKLF like MARVEL transmembrane domain containing 2

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 5:82,679,457...82,696,686
Ensembl chr 5:82,679,473...82,697,153

G

cAMP responsive element modulator

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 2:1,755,189...1,828,746
Ensembl chr 2:1,755,522...1,828,910

G

C-reactive protein

ISO

protein:increased expression:serum

NCBI chr38:22,396,787...22,398,180
Ensembl chr38:22,396,263...22,399,166

G

cytotoxic T-lymphocyte associated protein 4

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr37:12,647,712...12,653,874
Ensembl chr37:12,634,563...12,653,874

G

cortactin

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr18:47,932,367...47,960,732
Ensembl chr18:47,916,632...47,960,674

G

C-X-C motif chemokine receptor 2

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr37:24,831,351...24,846,387
Ensembl chr37:24,843,171...24,844,247

G

C-X-C motif chemokine receptor 4

ISO

CTD Direct Evidence: marker/mechanism

PMID:19565504 PMID:26387944

NCBI chr19:38,874,650...38,877,740
Ensembl chr19:38,874,145...38,877,740

G

death associated protein kinase 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 1:72,278,939...72,448,907
Ensembl chr 1:72,280,103...72,447,822

G

DNA damage inducible transcript 3

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr10:1,606,693...1,612,410
Ensembl chr10:1,606,693...1,611,303

G

major histocompatibility complex, class II, DQ beta 1

ISO

DNA:polymorphism (human)

NCBI chr12:2,305,307...2,307,711

G

MHC class II DLA DRB1 beta chain

ISO

DNA:polymorphism (human)

PMID:10457895 PMID:19908388

RGD:5147587 RGD:5147863

NCBI chr12:2,151,409...2,164,564

G

dual specificity phosphatase 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 4:39,588,833...39,591,065
Ensembl chr 4:39,588,339...39,590,514

G

dual specificity phosphatase 2

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr17:34,586,635...34,589,076
Ensembl chr17:34,586,716...34,588,453

G

dual specificity phosphatase 4

ISO

CTD Direct Evidence: marker/mechanism

G

dysferlin

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr17:51,011,197...51,228,969
Ensembl chr17:51,011,197...51,228,876

G

epidermal growth factor

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr32:30,073,541...30,166,904
Ensembl chr32:30,073,950...30,166,295

G

early growth response 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr11:26,046,195...26,049,806
Ensembl chr11:26,046,228...26,048,575

G

E74 like ETS transcription factor 2

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr19:3,482,845...3,580,380
Ensembl chr19:3,483,542...3,578,870

G

ethanolamine kinase 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr27:24,561,708...24,624,794
Ensembl chr27:24,567,318...24,624,797

G

ETS variant transcription factor 6

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr27:34,351,206...34,587,060
Ensembl chr27:34,343,390...34,587,060

G

FAM20A golgi associated secretory pathway pseudokinase

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 9:15,205,887...15,218,873
Ensembl chr 9:15,207,300...15,230,447

G

fatty acid hydroxylase domain containing 2

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 4:54,962,585...54,988,756
Ensembl chr 4:54,970,733...54,991,204

G

Fc fragment of IgG receptor Ia

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr17:59,073,139...59,102,023
Ensembl chr17:59,092,933...59,102,015

G

FCH and double SH3 domains 2

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr21:25,082,864...25,399,754
Ensembl chr21:25,072,161...25,397,717

G

Fos proto-oncogene, AP-1 transcription factor subunit

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 8:48,330,856...48,334,273
Ensembl chr 8:48,331,026...48,333,467

G

FosB proto-oncogene, AP-1 transcription factor subunit

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 1:110,088,686...110,092,818
Ensembl chr 1:110,087,036...110,092,818

G

FOS like 2, AP-1 transcription factor subunit

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr17:22,340,469...22,364,994
Ensembl chr17:22,341,322...22,361,772

G

forkhead box P1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr20:20,438,631...21,020,516
Ensembl chr20:20,788,433...21,016,397

G

growth arrest and DNA damage inducible alpha

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 6:77,393,026...77,396,473
Ensembl chr 6:77,393,036...77,396,618

G

guanosine monophosphate reductase

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr35:15,400,937...15,449,157
Ensembl chr35:15,401,003...15,448,022

G

G protein subunit gamma 11

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr14:19,426,916...19,431,232
Ensembl chr14:19,426,685...19,431,235

G

glycoprotein Ib platelet subunit beta

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr26:29,567,437...29,568,627
Ensembl chr26:29,528,366...29,568,522

G

H2A clustered histone 4

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr35:23,990,768...23,991,294

G

H2B clustered histone 14

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr35:25,006,472...25,035,326
Ensembl chr35:25,006,510...25,006,890

G

heparin binding EGF like growth factor

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 2:35,551,248...35,563,310
Ensembl chr 2:35,551,250...35,563,043

G

HERPUD family member 2

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr14:47,251,733...47,284,519
Ensembl chr14:47,210,672...47,284,529

G

homeostatic iron regulator

ISO

DNA:missense mutation:cds:p.C282Y (human)

NCBI chr35:24,031,479...24,038,922
Ensembl chr35:24,031,387...24,042,413

G

heat shock protein family D (Hsp60) member 1

ISO

protein:increased expression:serum,synovial fluid:

NCBI chr37:7,010,421...7,025,912

G

insulin like growth factor 1 receptor

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 3:41,795,337...42,096,255
Ensembl chr 3:41,794,623...42,090,387

G

interleukin 1 alpha

ISO

DNA:SNP:promoter:-889C>T (human)

NCBI chr17:36,969,581...36,979,445
Ensembl chr17:36,970,573...36,979,435

G

interleukin 1 receptor antagonist

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr17:37,236,690...37,250,424
Ensembl chr17:37,212,751...37,249,329

G

interleukin 2

ISO

protein:increased expression:mononuclear cell

NCBI chr19:17,750,780...17,756,394
Ensembl chr19:17,750,780...17,756,394

G

interleukin 6

ISO

protein:increased expression:serum:

NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519

G

integrin subunit alpha 2b

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 9:19,049,643...19,064,019
Ensembl chr 9:19,050,001...19,063,992

G

integrin subunit beta 5

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr33:27,797,204...27,912,558
Ensembl chr33:27,797,667...27,912,584

G

jumonji domain containing 1C

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 4:15,006,670...15,261,139
Ensembl chr 4:15,007,508...15,261,691

G

Jun proto-oncogene, AP-1 transcription factor subunit

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 5:50,966,698...50,968,939

G

lysine acetyltransferase 6B

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 4:25,131,580...25,303,355
Ensembl chr 4:25,131,844...25,301,825

G

potassium inwardly rectifying channel subfamily J member 15

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr31:33,314,061...33,388,165
Ensembl chr31:33,384,630...33,386,885

G

KLF transcription factor 4

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr11:62,881,840...62,886,676
Ensembl chr11:62,882,767...62,928,251

G

KRAS proto-oncogene, GTPase

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr27:22,261,753...22,296,704
Ensembl chr27:22,257,941...22,293,369

G

laccase domain containing 1

ISO

ClinVar Annotator: match by term: JUVENILE ARTHRITIS

PMID:25147203 PMID:25220867 PMID:25741868 PMID:27881174 PMID:29717096 More...

NCBI chr22:6,824,942...7,002,888

G

membrane-spanning 4-domains subfamily A member 4A

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr21:50,598,991...50,614,428

G

LIM domain containing preferred translocation partner in lipoma

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr34:20,538,580...21,157,978
Ensembl chr34:20,632,193...21,142,914

G

mitotic arrest deficient 1 like 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 6:14,889,126...15,236,194
Ensembl chr 6:14,882,875...15,236,192

G

MAF bZIP transcription factor F

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr10:26,475,478...26,486,109
Ensembl chr10:26,476,851...26,485,931

G

mastermind like transcriptional coactivator 2

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr21:4,824,377...5,166,859
Ensembl chr21:4,783,712...5,163,540

G

microtubule associated protein 2

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr37:17,316,899...17,611,360
Ensembl chr37:17,466,678...17,607,803

G

mitogen-activated protein kinase 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr26:31,013,607...31,132,998
Ensembl chr26:31,013,607...31,132,998

G

mannose binding lectin 1

ISO

NCBI chr 4:29,419,886...29,424,377

G

mex-3 RNA binding family member C

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 1:23,818,790...23,838,106
Ensembl chr 1:23,818,099...23,836,297

G

moesin

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr X:50,708,913...50,775,404
Ensembl chr X:50,708,704...50,773,762

G

MTSS I-BAR domain containing 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr13:22,633,001...22,794,960
Ensembl chr13:22,635,230...22,794,453

G

myocardial zonula adherens protein

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr30:22,760,852...22,850,293

G

nudE neurodevelopment protein 1 like 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 5:33,187,614...33,244,483
Ensembl chr 5:33,204,452...33,266,052

G

nuclear receptor subfamily 4 group A member 2

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr36:2,546,237...2,554,559
Ensembl chr36:2,547,421...2,552,780

G

nuclear receptor subfamily 4 group A member 3

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr11:56,806,506...56,846,997
Ensembl chr11:56,812,804...56,847,689

G

neuregulin 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr16:31,697,958...32,771,888
Ensembl chr16:31,706,851...32,771,932

G

oxidized low density lipoprotein receptor 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr27:35,828,852...35,838,748
Ensembl chr27:35,828,029...35,838,754

G

oncostatin M

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr26:23,421,787...23,439,332
Ensembl chr26:23,421,787...23,426,036

G

protein kinase C and casein kinase substrate in neurons 2

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr10:22,512,058...22,648,553
Ensembl chr10:22,512,077...22,647,322

G

phosphate cytidylyltransferase 1B, choline

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr X:20,076,298...20,207,837
Ensembl chr X:20,079,772...20,207,722

G

period circadian regulator 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 5:32,957,517...32,972,368
Ensembl chr 5:32,957,127...32,968,465

G

phosphoglucomutase 5

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 1:88,823,883...89,011,091
Ensembl chr 1:88,825,152...88,994,750

G

plasminogen activator, urokinase receptor

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 1:111,476,804...111,490,876
Ensembl chr 1:111,476,893...111,490,880

G

polo like kinase 2

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 2:45,359,865...45,365,496
Ensembl chr 2:45,360,374...45,367,441

G

procollagen-lysine,2-oxoglutarate 5-dioxygenase 2

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr23:41,290,183...41,382,917
Ensembl chr23:41,290,567...41,382,807

G

protein S

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr33:1,628,074...1,691,441
Ensembl chr33:1,628,105...1,692,058

G

protein tyrosine phosphatase non-receptor type 22

ISO

DNA: snp : cds : rs2476601

NCBI chr17:51,623,628...51,683,039
Ensembl chr17:51,623,623...51,682,858

G

R3H domain containing 2

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr10:1,377,664...1,504,008
Ensembl chr10:1,370,350...1,504,017

G

RasGEF domain family member 1B

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr32:5,545,489...6,090,119
Ensembl chr32:5,546,524...6,090,764

G

RNA binding motif protein 47

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 3:71,985,725...72,135,271
Ensembl chr 3:71,985,831...72,132,918

G

arginine-glutamic acid dipeptide repeats

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 5:61,868,288...62,249,009
Ensembl chr 5:61,868,685...62,215,973

G

Rho related BTB domain containing 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 4:12,971,624...13,089,520
Ensembl chr 4:12,973,412...13,035,505

G

ring finger protein 103

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr17:38,549,838...38,566,613
Ensembl chr17:38,549,828...38,566,149

G

selectin P

severity

ISO

protein:increased expression:plasma

NCBI chr 7:28,956,428...28,997,266
Ensembl chr 7:28,958,486...28,996,313

G

SH2 domain containing 2A

ISO

DNA:polymorphism:promoter

NCBI chr 7:41,186,721...41,195,987
Ensembl chr 7:41,186,252...41,195,122

G

SH3 domain binding glutamate rich protein like 2

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr12:40,579,997...40,656,376
Ensembl chr12:40,597,149...40,654,005

G

salt inducible kinase 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr31:37,455,130...37,466,829

G

signal induced proliferation associated 1 like 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 8:44,916,309...45,260,197
Ensembl chr 8:44,990,495...45,258,614

G

solute carrier family 11 member 1

ISO

DNA:repeat:promoter (human)
CTD Direct Evidence: marker/mechanism

PMID:10857800 PMID:16597321

NCBI chr37:25,039,203...25,047,461
Ensembl chr37:25,038,360...25,047,282

G

solute carrier family 22 member 16

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr12:67,110,606...67,167,812
Ensembl chr12:67,110,606...67,149,880

G

solute carrier family 26 member 2

susceptibility

ISO

DNA:SNPs: :

NCBI chr 4:59,068,601...59,090,803
Ensembl chr 4:59,074,008...59,078,892

G

solute carrier family 2 member 3

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr27:37,297,932...37,309,604
Ensembl chr27:37,297,932...37,428,410

G

SMAD family member 3

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr30:31,246,313...31,360,098
Ensembl chr30:31,245,657...31,363,337

G

stabilin 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr20:37,249,744...37,276,642
Ensembl chr20:37,249,746...37,276,535

G

signal transducer and activator of transcription 3

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 9:20,539,660...20,614,631
Ensembl chr 9:20,539,697...20,612,672

G

stromal interaction molecule 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr21:26,394,592...26,594,764
Ensembl chr21:26,394,811...26,593,375

G

transcription factor 7 like 2

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr28:23,966,079...24,162,775
Ensembl chr28:23,966,073...24,163,737

G

transcription factor Dp-1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr22:60,863,541...60,897,491
Ensembl chr22:60,870,413...60,896,629

G

tissue factor pathway inhibitor

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr36:29,457,131...29,546,455
Ensembl chr36:29,459,371...29,511,310

G

thrombomodulin

ISO

protein:increased expression:serum

NCBI chr24:599,773...601,649
Ensembl chr24:599,773...601,649

G

thrombospondin 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr30:6,770,212...6,786,875
Ensembl chr30:6,769,470...6,784,915

G

TNF alpha induced protein 6

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr19:52,607,598...52,623,799
Ensembl chr19:52,607,713...52,623,811

G

TNF alpha induced protein 8

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr11:8,624,106...8,685,389
Ensembl chr11:8,660,557...8,684,374

G

TRAF2 and NCK interacting kinase

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr34:35,426,716...35,727,308
Ensembl chr34:35,427,217...35,807,059

G

tubulin tyrosine ligase like 5

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 8:48,651,766...48,920,733
Ensembl chr 8:48,651,814...48,920,039

G

tubulin beta 2A class IIa

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr35:3,448,402...3,450,783
Ensembl chr35:3,448,435...3,452,091

G

ubiquitin conjugating enzyme E2 E1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr23:19,863,136...19,937,272
Ensembl chr23:19,863,253...19,937,247

G

ubiquitin protein ligase E3C

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr16:19,590,115...19,716,664
Ensembl chr16:19,589,172...19,777,260

G

WASP family member 3

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr25:12,804,485...12,881,988
Ensembl chr25:12,805,431...12,877,770

G

WW domain containing oxidoreductase

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 5:72,298,254...73,243,667
Ensembl chr 5:72,299,157...73,261,406

G

zinc finger AN1-type containing 3

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr12:6,819,403...7,140,144
Ensembl chr12:6,820,354...7,139,722

G

zinc finger C3H1-type containing

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr10:13,159,286...13,216,561
Ensembl chr10:13,159,957...13,216,546

Sjogren's syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

autoimmune regulator

ISO

OMIM:270150

NCBI chr31:38,139,513...38,149,294
Ensembl chr31:38,139,099...38,149,296

G

apolipoprotein E

onset

ISO

DNA:polymorphism:exon:

NCBI chr 1:110,525,717...110,528,534
Ensembl chr 1:110,525,722...110,528,440

G

B9 domain containing 2

severity

ISO

OMIM:270150

PMID:7554451 PMID:9358754

RGD:7394829 RGD:7394845

NCBI chr 1:112,621,832...112,627,726
Ensembl chr 1:112,621,633...112,643,885

G

brain derived neurotrophic factor

severity

ISO

protein:increased expression:serum:

NCBI chr21:48,191,580...48,243,699
Ensembl chr21:48,192,670...48,204,480

G

bone marrow stromal cell antigen 2

ISO

mRNA, protein:increased expression: labial gland, CD19+ B cell, CD4-CD8-CD19-monocyte:

NCBI chr20:45,383,757...45,387,420
Ensembl chr20:45,383,915...45,387,178

G

complement C3

ISO

NCBI chr20:53,566,226...53,598,365
Ensembl chr20:53,566,261...53,598,761

G

carbonic anhydrase 1

ISO

NCBI chr29:31,858,644...31,868,135
Ensembl chr29:31,858,636...31,868,158

G

carbonic anhydrase 2

ISO

PMID:12806141 PMID:15831920

RGD:408425973 RGD:408425977

NCBI chr29:31,959,225...31,975,309
Ensembl chr29:31,935,172...31,980,579

G

calpastatin

ISO

associated with Lupus Erythematosus, Systemic

NCBI chr 3:12,920,514...13,031,974
Ensembl chr 3:12,922,453...13,031,959

G

C-C motif chemokine receptor 5

no_association

ISO

DNA:frameshift mutation: :p.S185_T195del (rs333) (human)

PMID:12412204 PMID:23773920

RGD:8551796 RGD:8551818

NCBI chr20:42,293,288...42,297,952
Ensembl chr20:42,294,996...42,297,952

G

C-C motif chemokine receptor 7

ISO

OMIM:270150

NCBI chr 9:22,077,976...22,092,818
Ensembl chr 9:22,068,775...22,090,656

G

CD40 ligand

ISO

protein:increased expression:salivary ductal epithelium (human)

NCBI chr X:107,001,421...107,023,007
Ensembl chr X:107,010,890...107,023,006

G

C-reactive protein

ISO

associated with Arthritis, Rheumatoid;protein:increased expression:serum:

PMID:2353152 PMID:16013223

RGD:9491774 RGD:9491835

NCBI chr38:22,396,787...22,398,180
Ensembl chr38:22,396,263...22,399,166

G

cytotoxic T-lymphocyte associated protein 4

susceptibility

ISO

DNA:SNPs,haplotype: :+49A/G (rs231775),(rs3087243)(human)
mRNA:increased expression:salivary gland:

PMID:12528117 PMID:16869018

RGD:7421506 RGD:7421519

NCBI chr37:12,647,712...12,653,874
Ensembl chr37:12,634,563...12,653,874

G

cytochrome P450 family 19 subfamily A member 1

ISO

OMIM:270150

NCBI chr30:16,954,020...17,056,728
Ensembl chr30:16,957,215...16,988,353

G

cytochrome P450 family 1 subfamily A member 1

ISO

associated with Arthritis, Rheumatoid;DNA:polymorphism: :4889A>G (human)

NCBI chr30:37,793,277...37,799,535
Ensembl chr30:37,793,508...37,796,866

G

diacylglycerol kinase theta

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 3:91,544,350...91,554,494
Ensembl chr 3:91,544,219...91,554,565

G

major histocompatibility complex, class II, DQ beta 1

susceptibility

ISO

DNA:polymorphisms:cds:HLA-DQB1*0201 (human)
associated with Chronic Hepatitis C;DNA:polymorphism:cds:HLA-DQB1*02 (human)
DNA:polymorphisms, haplotypes:cds:HLA-DQB1*0201, HLA-DQB1*0401, HLA-DQB1*0601 (human)

PMID:8468491 PMID:17489060 PMID:21315052

RGD:36174022 RGD:7421543 RGD:7483566

NCBI chr12:2,305,307...2,307,711

G

MHC class II DLA DRB1 beta chain

susceptibility

ISO

DNA:polymorphism:cds:HLA-DRB1*0301 (human)

NCBI chr12:2,151,409...2,164,564

G

E2F transcription factor 1

ISO

OMIM:270150

NCBI chr24:22,895,149...22,904,689
Ensembl chr24:22,878,402...22,904,656

G

Fas cell surface death receptor

ISO

protein:decreased expression:lacrimal gland, lymphocyte (mouse)
OMIM:270150
protein:increased expression:serum (human)

PMID:9870874 PMID:9890678 PMID:11157873

RGD:8662410 RGD:8662436 RGD:8662451

NCBI chr26:38,738,811...38,763,298
Ensembl chr26:38,737,611...38,763,321

G

glial cell derived neurotrophic factor

ISO

NCBI chr 4:70,966,694...70,991,860
Ensembl chr 4:70,971,432...70,989,714

G

general transcription factor IIi

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 6:5,726,652...5,840,740
Ensembl chr 6:5,727,665...5,811,965

G

heme oxygenase 1

treatment

ISO

NCBI chr10:28,744,404...28,751,544
Ensembl chr10:28,743,795...28,751,773

G

heterogeneous nuclear ribonucleoprotein H1

ISO

NCBI chr11:2,050,753...2,059,999
Ensembl chr11:2,050,871...2,059,999

G

intercellular adhesion molecule 1

treatment

ISO

protein:increased expression:salivary gland
protein:increased expression:plasma

PMID:11359451 PMID:15037117 PMID:21589878

RGD:8158122 RGD:8547696 RGD:8547705

NCBI chr20:50,818,715...50,827,914
Ensembl chr20:50,818,715...50,827,914

G

inhibitor of DNA binding 3

ISO

OMIM:270150

NCBI chr 2:75,880,659...75,881,786
Ensembl chr 2:75,880,657...75,882,010

G

interferon gamma

ISO

PMID:15584966 PMID:28421993

RGD:14975117 RGD:8142390

NCBI chr10:10,406,866...10,411,698
Ensembl chr10:10,406,867...10,411,698

G

interleukin 10

ISO

NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057

G

interleukin 12A

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr34:26,125,529...26,133,546
Ensembl chr34:26,124,770...26,133,550

G

interleukin 13

ISO

protein:increased expression:serum

NCBI chr11:20,957,870...20,961,391
Ensembl chr11:20,958,464...20,961,388

G

interleukin 17A

ISO

NCBI chr12:19,854,129...19,862,521
Ensembl chr12:19,854,129...19,862,513

G

interleukin 18

ISO

protein:increased expression:saliva

NCBI chr 5:20,972,742...20,995,327
Ensembl chr 5:20,972,871...20,995,348

G

interleukin 1 receptor antagonist

ISO

protein:increased expression:conjunctiva (human)
DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human)

PMID:9646842 PMID:11527941

RGD:8549786 RGD:8549807

NCBI chr17:37,236,690...37,250,424
Ensembl chr17:37,212,751...37,249,329

G

interleukin 2

ISO

OMIM:270150

NCBI chr19:17,750,780...17,756,394
Ensembl chr19:17,750,780...17,756,394

G

interleukin 23 receptor

ISO

protein:increased expression:minor salivary gland:

NCBI chr 5:43,307,422...43,369,806
Ensembl chr 5:43,308,982...43,368,474

G

interleukin 2 receptor subunit alpha

ISO

OMIM:270150

NCBI chr 2:29,892,130...29,948,926
Ensembl chr 2:29,894,125...29,944,643

G

interleukin 4

ISO

OMIM:270150

NCBI chr11:20,972,693...20,981,539
Ensembl chr11:20,972,690...20,981,534

G

interleukin 6

severity

ISO

DNA:polymorphims:promoter:-174G>C(human)
protein:increased expression:plasma:

NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519

G

interleukin 1 receptor associated kinase 1 binding protein 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr12:39,857,331...39,883,471
Ensembl chr12:39,857,392...39,875,399

G

intersectin 2

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr17:18,627,543...18,756,669
Ensembl chr17:18,627,935...18,756,114

G

lymphotoxin alpha

susceptibility
no_association

ISO

protein:increased expression:saliva, serum
DNA:SNP, haplotype:intron: (rs909253) (human)
DNA:SNPs: :multiple (human)

PMID:20952683 PMID:22294627

RGD:8548776 RGD:8548787

NCBI chr12:1,070,608...1,073,053
Ensembl chr12:1,071,192...1,073,067

G

mitogen-activated protein kinase kinase kinase 14

ISO

OMIM:270150

NCBI chr 9:18,255,416...18,302,405
Ensembl chr 9:18,280,198...18,302,401

G

matrix metallopeptidase 3 (stromelysin 1, progelatinase)

ISO

NCBI chr 5:28,949,631...28,957,915
Ensembl chr 5:28,949,631...28,958,222

G

matrix metallopeptidase 9

ISO

protein:increased activity:saliva

PMID:9923658 PMID:15316122

RGD:8547814 RGD:8547858

NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293

G

mucin 16, cell surface associated

ISO

mRNA, protein:increased expression:conjunctival epithelial cell, tear

NCBI chr20:51,790,036...51,876,801

G

mucin 19, oligomeric

ISO

mRNA:decreased expression:conjunctival epithelial cell
OMIM:270150

NCBI chr27:13,109,208...13,253,506

G

mucin 5AC, oligomeric mucus/gel-forming

ISO

mRNA:decreased expression:conjunctival epithelial cell

NCBI chr18:45,471,232...45,498,961

G

neutrophil cytosolic factor 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 6:5,702,222...5,719,515
Ensembl chr 6:5,605,694...5,719,458

G

neurofilament light chain

ISO

protein:increased expression:CSF (human)

NCBI chr25:32,463,361...32,468,965
Ensembl chr25:32,463,452...32,467,224

G

NFKB inhibitor alpha

ISO

OMIM:270150

NCBI chr 8:14,100,203...14,103,453
Ensembl chr 8:14,100,671...14,103,433

G

pleckstrin homology domain interacting protein

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr12:39,899,738...40,015,795
Ensembl chr12:39,904,603...40,032,194

G

paraoxonase 1

ISO

protein:decreased activity:serum (human)

NCBI chr14:20,565,620...20,600,774
Ensembl chr14:20,565,641...20,642,985

G

PR/SET domain 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr12:63,454,242...63,495,278
Ensembl chr12:63,470,974...63,495,579

G

protein tyrosine phosphatase non-receptor type 22

no_association

ISO

DNA:snp:cds:c.1858C>T (human)

PMID:15933742 PMID:16163373

RGD:11534998 RGD:11534999

NCBI chr17:51,623,628...51,683,039
Ensembl chr17:51,623,623...51,682,858

G

PTTG1 regulator of sister chromatid separation, securin

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 4:50,301,868...50,309,636

G

RAR related orphan receptor C

ISO

OMIM:270150

NCBI chr17:60,821,498...60,842,485
Ensembl chr17:60,821,981...60,842,453

G

SATB homeobox 1

ISO

OMIM:270150

NCBI chr23:24,614,198...24,692,254
Ensembl chr23:24,593,489...24,690,977

G

selectin P

ISO

protein:increased expression:plasma

NCBI chr 7:28,956,428...28,997,266
Ensembl chr 7:28,958,486...28,996,313

G

ST14 transmembrane serine protease matriptase

ISO

OMIM:270150

NCBI chr 5:4,652,493...4,666,728
Ensembl chr 5:4,651,863...4,691,069

G

signal transducer and activator of transcription 4

susceptibility
no_association

ISO

DNA:SNP:intron: (rs7574865) (human)
DNA:SNP:intron: (rs7582694) (human)
CTD Direct Evidence: marker/mechanism

PMID:18273036 PMID:20360187 PMID:20535138 PMID:24097066 PMID:24097067

RGD:8661690 RGD:8661708 RGD:8661709

NCBI chr37:1,566,563...1,685,378
Ensembl chr37:1,566,585...1,829,894

G

thrombospondin 1

ISO

OMIM:270150

NCBI chr30:6,770,212...6,786,875
Ensembl chr30:6,769,470...6,784,915

G

tumor necrosis factor

treatment

ISO

DNA:polymorphism: :-1031T>C(human)

PMID:22703762 PMID:24941846

RGD:10450595 RGD:7394766

NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425

G

TNF alpha induced protein 3

ISO

CTD Direct Evidence: marker/mechanism

PMID:24097066 PMID:24097067

NCBI chr 1:30,247,432...30,262,992
Ensembl chr 1:30,251,059...30,261,001

G

TNF superfamily member 13b

ISO

OMIM:270150

NCBI chr22:57,036,307...57,069,053
Ensembl chr22:57,036,292...57,068,320

G

TNFAIP3 interacting protein 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 4:58,150,734...58,200,158
Ensembl chr 4:58,149,882...58,199,644

G

TRAF3 interacting protein 2

ISO

OMIM:270150

NCBI chr12:68,029,861...68,070,901
Ensembl chr12:68,030,197...68,058,518

G

vimentin

ISO

NCBI chr 2:19,671,316...19,679,367
Ensembl chr 2:19,671,316...19,679,466

G

vasoactive intestinal peptide

ISO

NCBI chr 1:42,941,655...42,950,160
Ensembl chr 1:42,941,224...42,950,700

Systemic Juvenile Rheumatoid Arthritis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

indoleamine 2,3-dioxygenase 1

ISO

NCBI chr16:25,391,759...25,407,161
Ensembl chr16:25,391,754...25,407,048

G

interleukin 6

ISO

NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519

G

interleukin 6 receptor

treatment

ISO

NCBI chr 7:42,877,731...42,920,149
Ensembl chr 7:42,880,885...42,920,090

G

macrophage migration inhibitory factor

susceptibility

ISO

CTD Direct Evidence: marker/mechanism

Term paths to the root

Path 1
Term	Annotations
disease	15778
disease of anatomical entity	15391
musculoskeletal system disease	7955
connective tissue disease	5461
rheumatic disease	694
rheumatoid arthritis	433
Caplan's syndrome	0
Felty's syndrome	0
Rheumatoid Nodule	0
Rheumatoid Vasculitis	0
Sjogren's syndrome +	69
Sjögren-Mikulicz Syndrome	0
adult-onset Still's disease	2
juvenile rheumatoid arthritis +	145
palindromic rheumatism	0
Path 2
Term	Annotations
disease	15778
disease of anatomical entity	15391
Immune & Inflammatory Diseases	5221
immune system disease	4663
primary immunodeficiency disease	4096
autoimmune disease	2055
autoimmune disease of musculoskeletal system	905
rheumatic disease	694
rheumatoid arthritis	433
Caplan's syndrome	0
Felty's syndrome	0
Rheumatoid Nodule	0
Rheumatoid Vasculitis	0
Sjogren's syndrome +	69
Sjögren-Mikulicz Syndrome	0
adult-onset Still's disease	2
juvenile rheumatoid arthritis +	145
palindromic rheumatism	0

paths to the root