RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term: rheumatic disease
Accession: DOID:1575
browse the term
Definition: A musculoskeletal system disease that involves inflammation or pain in the muscles, joints, or fibrous tissue. (DO)
Synonyms: exact_synonym: rheumatic diseases; rheumatism
primary_id: MESH:D012216
xref: EFO:0005755
For additional species annotation, visit the
Alliance of Genome Resources .
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Hgf
hepatocyte growth factor
ISO
protein:increased expression:serum:
RGD
PMID:24387171
RGD:8548659
NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409
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Vegfa
vascular endothelial growth factor A
ISO
protein:increased expression:serum:
RGD
PMID:24387171
RGD:8548659
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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Ankrd37
ankyrin repeat domain 37
ISO
ClinVar Annotator: match by term: Hip dysplasia, Beukes type
ClinVar
PMID:25741868
NCBI chr16:46,268,933...46,271,971
Ensembl chr16:46,268,443...46,271,963
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Cfap96
cilia and flagella associated protein 96
ISO
ClinVar Annotator: match by term: Hip dysplasia, Beukes type | ClinVar Annotator: match by term: Osteoarthropathy, premature degenerative, of hip
ClinVar
PMID:25741868 PMID:28492532 PMID:33473208
NCBI chr16:46,291,075...46,315,616
Ensembl chr16:46,291,311...46,315,625
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Ufsp2
UFM1-specific peptidase 2
ISO
ClinVar Annotator: match by term: Hip dysplasia, Beukes type | ClinVar Annotator: match by term: Osteoarthropathy, premature degenerative, of hip CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:2389793 PMID:21228277 PMID:25741868 PMID:26428751 PMID:28492532 PMID:28892125 PMID:33473208 More...
NCBI chr16:46,272,016...46,291,080
Ensembl chr16:46,272,016...46,291,059
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Cenpc
centromere protein C
ISO
associated with Anticentromere antibody positivity
RGD
PMID:25220385
RGD:27372886
NCBI chr14:21,988,067...22,046,732
Ensembl chr14:21,988,144...22,055,476
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Fbn1
fibrillin 1
ISO
RGD
PMID:10395706
RGD:12910471
NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
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Adipoq
adiponectin, C1Q and collagen domain containing
severity
ISO
protein:decreased expression:serum
RGD
PMID:21615510
RGD:8694418
NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
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Agt
angiotensinogen
ISO
protein:increased expression:serum
RGD
PMID:14730619
RGD:8548886
NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
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Bank1
B-cell scaffold protein with ankyrin repeats 1
susceptibility
ISO
DNA:SNPs: :rs10516487,rs17266594,rs3733197(human)
RGD
PMID:19815934
RGD:9684975
NCBI chr 2:224,530,475...224,800,420
Ensembl chr 2:224,530,475...224,800,405
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Cav1
caveolin 1
susceptibility no_association
ISO
DNA:SNPs:intron, 3' utr: (rs729949, rs3815412, rs9920) (human) DNA:SNPs:enhancer, intron:multiple
RGD
PMID:22402147 PMID:22402147
RGD:8661768 , RGD:8661768
NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705
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Cxcl6
C-X-C motif chemokine ligand 6
ISO
RGD
PMID:18432520
RGD:5135258
NCBI chr14:17,310,790...17,312,250
Ensembl chr14:17,310,426...17,313,093
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Fcgr2a
Fc gamma receptor 2A
ISO
RGD
PMID:8254199
RGD:5147984
NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967
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Il10
interleukin 10
ISO
protein:increased expression:serum
RGD
PMID:9034992
RGD:5684371
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Il13
interleukin 13
ISO
DNA:SNPs:5' utr, enhancer: (rs1800925, rs2243204) (human)
RGD
PMID:16832637
RGD:5684369
NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
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Il6
interleukin 6
treatment
ISO
RGD
PMID:20338043
RGD:12792275
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Irak1
interleukin-1 receptor-associated kinase 1
susceptibility
ISO
DNA:missense mutation:cds:p.F196S (rs1059702) (human)
RGD
PMID:21898345
RGD:7495782
NCBI chr X:151,768,621...151,778,521
Ensembl chr X:151,768,777...151,778,521
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Kdr
kinase insert domain receptor
ISO
protein:increased expression:serum:
RGD
PMID:19886888
RGD:8551850
NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
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RT1-Ba
RT1 class II, locus Ba
susceptibility
ISO
DNA:polymorphism::HLA-DQA1*0501;
RGD
PMID:11014350
RGD:8547725
NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
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Stat4
signal transducer and activator of transcription 4
susceptibility no_association
ISO
DNA:SNP:introns: (rs7574865, rs10168266) (human) DNA:SNP:intron: (rs7574865) (human) DNA:SNP:intron: (rs3821236) (human)
RGD
PMID:23755762 PMID:19286670 PMID:23755762
RGD:8661701 , RGD:8661714 , RGD:8661701
NCBI chr 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540
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Tap1
transporter 1, ATP binding cassette subfamily B member
susceptibility
ISO
RGD
PMID:16112028
RGD:1578361
NCBI chr20:4,656,262...4,666,634
Ensembl chr20:4,656,263...4,666,901
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Tap2
transporter 2, ATP binding cassette subfamily B member
susceptibility
ISO
RGD
PMID:16112028
RGD:1578361
NCBI chr20:4,636,347...4,650,387
Ensembl chr20:4,636,357...4,650,407
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Tgfbr1
transforming growth factor, beta receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27228633
NCBI chr 5:61,653,773...61,710,777
Ensembl chr 5:61,653,233...61,710,777
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Tlr2
toll-like receptor 2
disease_progression
ISO
DNA:polymorphism:cds:p.P631H(rs5743704)(human)
RGD
PMID:21905008
RGD:8553044
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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Wrn
WRN RecQ like helicase
ISO
RGD
PMID:16906373
RGD:10042980
NCBI chr16:58,763,517...58,898,604
Ensembl chr16:58,763,504...58,895,450
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Trpv4
transient receptor potential cation channel, subfamily V, member 4
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Familial digital arthropathy-brachydactyly
OMIM CTD ClinVar
PMID:4056805 PMID:8179305 PMID:11891693 PMID:20037586 PMID:20037587 PMID:20037588 PMID:20104247 PMID:20460441 PMID:21288981 PMID:21336783 PMID:21454511 PMID:21964574 PMID:22702953 PMID:24575025 PMID:24789864 PMID:24963089 PMID:25256292 PMID:25741868 PMID:25900305 PMID:26110311 PMID:26392352 PMID:26467025 PMID:26948711 PMID:27751652 PMID:28251916 PMID:28492532 PMID:29858556 PMID:30230566 PMID:30373780 More...
NCBI chr12:41,938,533...41,977,517
Ensembl chr12:41,938,560...41,977,517
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Stat4
signal transducer and activator of transcription 4
susceptibility
ISO
ClinVar Annotator: match by term: Disabling pansclerotic morphea of childhood | ClinVar Annotator: match by term: STAT4-related condition
ClinVar OMIM
PMID:25741868 PMID:28492532 PMID:37256972
NCBI chr 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540
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C3
complement C3
ISO
associated with Leprosy
RGD
PMID:2783924
RGD:7421527
NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
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Cfb
complement factor B
ISO
associated with Leprosy
RGD
PMID:2783924
RGD:7421527
NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505
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Gstm1
glutathione S-transferase mu 1
susceptibility
ISO
associated with Behcet Syndrome;DNA:deletion:: (human)
RGD
PMID:22766250
RGD:7794848
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
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Lta
lymphotoxin alpha
ISO
associated with Sarcoidosis;DNA:polymorphism:intron
RGD
PMID:19225544
RGD:8548773
NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859
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RT1-CE13
RT1 class I, locus CE13
ISO
associated with Inflammatory Bowel Diseases; DNA:polymorphisms:cds:multiple (human)
RGD
PMID:12198697
RGD:7364926
NCBI chr20:3,314,830...3,318,106
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Tnf
tumor necrosis factor
susceptibility
ISO
associated with Inflammatory Bowel Diseases;DNA:polymorphisms: :-1031T>C(human)
RGD
PMID:12198697
RGD:7364926
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Vdr
vitamin D receptor
susceptibility
ISO
associated with Behcet Syndrome;DNA:polymorphism: : rs7975232(human)
RGD
PMID:24880677
RGD:13217417
NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
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Cat
catalase
ISO
protein:decreased activity:mononuclear cell:
RGD
PMID:22532869
RGD:9479066
NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
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Ccl2
C-C motif chemokine ligand 2
ISO
protein:decreased expression:plasma
RGD
PMID:19924498
RGD:14995946
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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Comt
catechol-O-methyltransferase
severity
ISO
DNA:polymorphism:cds:p.V158M(human)
RGD
PMID:24762091
RGD:13450944
NCBI chr11:82,568,052...82,587,642
Ensembl chr11:82,568,025...82,587,642
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Il1rn
interleukin 1 receptor antagonist
severity
ISO
protein:increased expression:serum (human)
RGD
PMID:10341365
RGD:8549787
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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Esr1
estrogen receptor 1
no_association
ISO
DNA:SNPs:exons: (rs2077647, rs1801132) (human)
RGD
PMID:19884274
RGD:10045830
NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002
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Esr2
estrogen receptor 2
no_association
ISO
DNA:SNPs:introns: (rs1256034, rs1256059, rs944460) (human)
RGD
PMID:19884274
RGD:10045830
NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919
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Il4
interleukin 4
no_association
ISO
DNA:SNPs:promoter, 5' utr, intron:multiple
RGD
PMID:20219689
RGD:10402786
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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Il4r
interleukin 4 receptor
no_association
ISO
DNA:SNPs:promoter, exons:multiple
RGD
PMID:20219689
RGD:10402786
NCBI chr 1:180,115,061...180,139,981
Ensembl chr 1:180,115,120...180,139,980
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RT1-Db1
RT1 class II, locus Db1
susceptibility
ISO
DNA:polymorphism: :HLA-DRB1*1104, HLA-DRB1*080(human)
RGD
PMID:7955632
RGD:7365102
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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Acp3
acid phosphatase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 8:104,905,570...104,956,146
Ensembl chr 8:104,905,586...104,954,236
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Acrbp
acrosin binding protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 4:157,851,149...157,864,211
Ensembl chr 4:157,841,841...157,864,213
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Adcy7
adenylate cyclase 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr19:18,740,875...18,798,924
Ensembl chr19:18,740,875...18,776,311
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Alox12
arachidonate 12-lipoxygenase, 12S type
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr10:54,958,263...54,970,542
Ensembl chr10:54,958,271...54,970,542
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Ankrd9
ankyrin repeat domain 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 6:130,001,914...130,008,792
Ensembl chr 6:129,998,486...130,008,923
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Aopep
aminopeptidase O
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr17:1,811,281...2,127,316
Ensembl chr17:1,811,980...2,127,331
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Aqp9
aquaporin 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 8:71,797,231...71,837,485
Ensembl chr 8:71,797,234...71,837,395
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Areg
amphiregulin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr14:16,972,185...16,981,443
Ensembl chr14:16,972,187...16,981,535
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Asap1
ArfGAP with SH3 domain, ankyrin repeat and PH domain 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 7:95,786,130...96,093,111
Ensembl chr 7:95,787,818...96,092,754
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Avl9
AVL9 cell migration associated
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 4:85,961,493...86,008,347
Ensembl chr 4:85,961,635...86,008,791
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B4galt5
beta-1,4-galactosyltransferase 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 3:156,018,056...156,033,983
Ensembl chr 3:156,018,053...156,070,074
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Bend2
BEN domain containing 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr X:33,401,122...33,465,427
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Bltp3b
bridge-like lipid transfer protein family member 3B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 7:24,181,635...24,261,720
Ensembl chr 7:24,181,644...24,261,720
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Btg1
BTG anti-proliferation factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 7:31,341,391...31,343,649
Ensembl chr 7:31,341,027...31,343,649
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Btg3
BTG anti-proliferation factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr11:17,030,156...17,046,069
Ensembl chr11:17,030,160...17,046,170
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C8b
complement C8 beta chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7980680
NCBI chr 5:119,535,009...119,572,565
Ensembl chr 5:119,535,146...119,572,565
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C9h2orf88
similar to human chromosome 2 open reading frame 88
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 9:48,539,140...48,584,882
Ensembl chr 9:48,568,409...48,584,831
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Cald1
caldesmon 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 4:63,265,781...63,446,938
Ensembl chr 4:63,265,942...63,446,932
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Camsap1
calmodulin regulated spectrin-associated protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 3:8,746,176...8,806,067
Ensembl chr 3:8,746,176...8,806,072
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Ccdc122
coiled-coil domain containing 122
ISO
ClinVar Annotator: match by term: JUVENILE ARTHRITIS
ClinVar
PMID:25741868
NCBI chr15:52,407,717...52,470,163
Ensembl chr15:52,407,717...52,470,163
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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 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
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Cd14
CD14 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr18:28,335,522...28,337,383
Ensembl chr18:28,335,340...28,337,261
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Cd83
CD83 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr17:20,887,309...20,907,009
Ensembl chr17:20,887,309...20,907,083
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Cd8b
CD8 subunit beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 4:103,312,596...103,328,523
Ensembl chr 4:103,312,578...103,328,553
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Ciita
class II, major histocompatibility complex, 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 chr10:5,139,947...5,187,493
Ensembl chr10:5,140,178...5,187,440
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Clu
clusterin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315
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Cmtm2b
CKLF-like MARVEL transmembrane domain containing 2B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr19:640,838...651,872
Ensembl chr19:640,824...651,939
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Crem
cAMP responsive element modulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr17:54,238,889...54,305,989
Ensembl chr17:54,239,030...54,305,989
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Crp
C-reactive protein
ISO
protein:increased expression:serum
RGD
PMID:22885951
RGD:6906884
NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
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Ctla4
cytotoxic T-lymphocyte-associated protein 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
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Cttn
cortactin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 1:199,599,710...199,635,254
Ensembl chr 1:199,599,710...199,635,164
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Cxcl1
C-X-C motif chemokine ligand 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr14:17,193,364...17,195,143
Ensembl chr14:17,193,365...17,195,215
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Cxcl3
C-X-C motif chemokine ligand 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr14:17,287,727...17,289,451
Ensembl chr14:17,270,146...17,289,511
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Cxcr2
C-X-C motif chemokine receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 9:75,729,493...75,735,868
Ensembl chr 9:75,729,115...75,739,425
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Cxcr4
C-X-C motif chemokine receptor 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504 PMID:26387944
NCBI chr13:40,077,976...40,081,883
Ensembl chr13:40,077,976...40,081,883
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Dapk1
death associated protein kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr17:3,930,223...4,090,991
Ensembl chr17:3,930,213...4,090,991
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Ddit3
DNA-damage inducible transcript 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 7:63,115,645...63,121,203
Ensembl chr 7:63,116,380...63,121,201
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Dusp1
dual specificity phosphatase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr10:16,680,478...16,683,275
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Dusp2
dual specificity phosphatase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 3:114,556,325...114,558,510
Ensembl chr 3:114,556,325...114,558,499
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Dusp4
dual specificity phosphatase 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr16:57,376,659...57,398,161
Ensembl chr16:57,377,229...57,398,138
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Dysf
dysferlin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 4:116,490,877...116,690,709
Ensembl chr 4:116,490,616...116,690,709
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Egf
epidermal growth factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 2:218,219,408...218,302,359
Ensembl chr 2:218,219,415...218,302,064
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Egr1
early growth response 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr18:26,462,967...26,466,766
Ensembl chr18:26,462,981...26,466,766
G
Elf2
E74 like ETS transcription factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 2:135,292,291...135,385,942
Ensembl chr 2:135,294,906...135,385,947
G
Etnk1
ethanolamine kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 4:176,126,056...176,170,325
Ensembl chr 4:176,126,180...176,193,770
G
Etv6
ETS variant transcription factor 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 4:166,849,031...167,085,211
Ensembl chr 4:166,847,686...167,084,992
G
Fam20a
FAM20A, golgi associated secretory pathway pseudokinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr10:94,638,836...94,697,814
Ensembl chr10:94,642,850...94,697,672
G
Faxdc2
fatty acid hydroxylase domain containing 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr10:42,245,808...42,271,679
Ensembl chr10:42,246,868...42,271,871
G
Fcgr1a
Fc gamma receptor 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 2:183,851,075...183,860,077
Ensembl chr 2:183,851,077...183,859,994
G
Fchsd2
FCH and double SH3 domains 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 1:155,444,471...155,685,350
Ensembl chr 1:155,444,460...155,685,539
G
Fos
Fos proto-oncogene, AP-1 transcription factor subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 6:105,121,170...105,124,036
Ensembl chr 6:105,121,170...105,124,036
G
Fosb
FosB proto-oncogene, AP-1 transcription factor subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 1:78,954,312...78,961,492
Ensembl chr 1:78,954,115...78,961,465
G
Fosl2
FOS like 2, AP-1 transcription factor subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 6:24,297,898...24,319,219
Ensembl chr 6:24,300,956...24,320,034
G
Foxp1
forkhead box P1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 4:131,559,599...132,155,092
Ensembl chr 4:131,564,756...132,112,258
G
Gadd45a
growth arrest and DNA-damage-inducible, alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 4:96,154,789...96,157,091
Ensembl chr 4:96,154,789...96,157,115
G
Gmpr
guanosine monophosphate reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr17:19,151,820...19,189,626
Ensembl chr17:19,151,815...19,189,621
G
Gng11
G protein subunit gamma 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 4:32,023,003...32,028,443
Ensembl chr 4:32,023,003...32,028,442
G
Gp1bb
glycoprotein Ib platelet subunit beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr11:82,378,216...82,379,393
Ensembl chr11:82,378,199...82,379,392
G
Gstt1
glutathione S-transferase theta 1
susceptibility
ISO
DNA:deletion: :
RGD
PMID:18328165
RGD:5490992
NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
G
H2bc8
H2B clustered histone 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr17:42,708,658...42,709,408
G
Hbegf
heparin-binding EGF-like growth factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr18:28,106,284...28,116,167
Ensembl chr18:28,105,760...28,116,441
G
Herpud2
HERPUD family member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 8:23,573,374...23,618,380
Ensembl chr 8:23,573,379...23,617,874
G
Hfe
homeostatic iron regulator
ISO
DNA:missense mutation:cds:p.C282Y (human)
RGD
PMID:16047841
RGD:8694357
NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502
G
Hist1h2af
histone cluster 1 H2A family member F
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr17:41,379,404...41,379,796
Ensembl chr17:41,379,404...41,379,796
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Hspa6l-ps1
heat shock protein family A (Hsp70) member 6 like, pseudogene 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr13:83,273,176...83,274,317
G
Hspd1
heat shock protein family D (Hsp60) member 1
ISO
protein:increased expression:serum,synovial fluid:
RGD
PMID:8255671
RGD:12910480
NCBI chr 9:56,579,195...56,590,011
Ensembl chr 9:56,579,201...56,589,662
G
Igf1r
insulin-like growth factor 1 receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777
G
Il1a
interleukin 1 alpha
ISO
DNA:SNP:promoter:-889C>T (human)
RGD
PMID:8162643
RGD:7794716
NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
G
Il1rn
interleukin 1 receptor antagonist
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
G
Il2
interleukin 2
ISO
protein:increased expression:mononuclear cell
RGD
PMID:21859687
RGD:5147870
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
G
Il6
interleukin 6
ISO
protein:increased expression:serum:
RGD
PMID:9489833
RGD:7829742
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
G
Itga2b
integrin subunit alpha 2b
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr10:87,408,532...87,426,055
Ensembl chr10:87,408,536...87,426,168
G
Itgb5
integrin subunit beta 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr11:66,828,428...66,944,231
Ensembl chr11:66,829,285...66,944,472
G
Jmjd1c
jumonji domain containing 1C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr20:21,332,147...21,494,220
Ensembl chr20:21,332,147...21,463,122
G
Jun
Jun proto-oncogene, AP-1 transcription factor subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 5:109,894,175...109,897,268
Ensembl chr 5:109,893,145...109,897,656
G
Kat6b
lysine acetyltransferase 6B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr15:2,638,885...2,811,977
Ensembl chr15:2,639,200...2,812,316
G
Kcnj15
potassium inwardly-rectifying channel, subfamily J, member 15
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr11:34,577,397...34,621,725
Ensembl chr11:34,577,363...34,621,952
G
Klf4
KLF transcription factor 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 5:70,278,843...70,283,751
Ensembl chr 5:70,278,972...70,283,602
G
Kras
KRAS proto-oncogene, GTPase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 4:178,185,418...178,218,484
G
Lacc1
laccase domain containing 1
ISO
ClinVar Annotator: match by term: JUVENILE ARTHRITIS
OMIM ClinVar
PMID:25147203 PMID:25220867 PMID:25741868 PMID:27881174 PMID:29717096 PMID:31811059 More...
NCBI chr15:52,390,267...52,407,630
Ensembl chr15:52,395,183...52,407,545
G
Lilra5
leukocyte immunoglobulin like receptor A5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 1:69,973,292...69,978,750
Ensembl chr 1:69,973,292...70,001,718
G
Lpp
LIM domain containing preferred translocation partner in lipoma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr11:75,787,326...76,426,646
Ensembl chr11:75,797,078...76,422,597
G
Mad1l1
mitotic arrest deficient 1 like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr12:14,320,892...14,630,750
Ensembl chr12:14,320,892...14,630,703
G
Maff
MAF bZIP transcription factor F
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 7:110,912,367...110,923,711
Ensembl chr 7:110,912,499...110,923,851
G
Maml2
mastermind-like transcriptional coactivator 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 8:10,268,611...10,588,307
Ensembl chr 8:10,268,665...10,587,107
G
Map2
microtubule-associated protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 9:67,723,422...67,981,886
Ensembl chr 9:67,723,371...67,979,809
G
Mapk1
mitogen activated protein kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr11:83,957,813...84,023,629
Ensembl chr11:83,957,813...84,023,616
G
Mbl2
mannose binding lectin 2
ISO
RGD
PMID:18334024
RGD:12910845
NCBI chr 1:228,016,439...228,024,736
G
Mex3c
mex-3 RNA binding family member C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr18:67,167,600...67,188,595
Ensembl chr18:67,166,718...67,188,595
G
Ms4a4a
membrane spanning 4-domains A4A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 1:208,060,507...208,085,121
Ensembl chr 1:208,046,971...208,085,119
G
Msn
moesin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr X:60,996,043...61,064,011
Ensembl chr X:60,995,951...61,065,628
G
Mtss1
MTSS I-BAR domain containing 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 7:90,488,751...90,628,007
Ensembl chr 7:90,488,754...90,627,968
G
Myzap
myocardial zonula adherens protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 8:72,155,817...72,243,036
Ensembl chr 8:72,131,530...72,243,036
G
Ndel1
nudE neurodevelopment protein 1-like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr10:53,505,628...53,582,025
Ensembl chr10:53,516,491...53,570,907
G
Nr4a2
nuclear receptor subfamily 4, group A, member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 3:41,689,847...41,707,036
Ensembl chr 3:41,689,851...41,697,877
G
Nr4a3
nuclear receptor subfamily 4, group A, member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 5:62,361,588...62,401,489
Ensembl chr 5:62,361,822...62,402,733
G
Nrg1
neuregulin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr16:59,250,658...60,304,519
Ensembl chr16:59,250,854...60,296,884
G
Olr1
oxidized low density lipoprotein receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 4:162,926,436...162,949,057
Ensembl chr 4:162,926,439...162,948,523
G
Osm
oncostatin M
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr14:79,103,638...79,108,500
Ensembl chr14:79,104,344...79,108,313
G
Pacsin2
protein kinase C and casein kinase substrate in neurons 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 7:114,505,525...114,599,087
Ensembl chr 7:114,505,152...114,598,546
G
Pcyt1b
phosphate cytidylyltransferase 1B, choline
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr X:58,378,090...58,471,623
Ensembl chr X:58,378,116...58,468,935
G
Per1
period circadian regulator 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr10:53,800,126...53,814,963
Ensembl chr10:53,805,535...53,814,431
G
Pgm5
phosphoglucomutase 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 1:222,325,638...222,513,434
Ensembl chr 1:222,325,643...222,513,437
G
Plaur
plasminogen activator, urokinase receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 1:80,053,440...80,068,384
Ensembl chr 1:80,050,324...80,068,595
G
Plk2
polo-like kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 2:41,969,176...41,974,945
Ensembl chr 2:41,969,176...41,974,947
G
Plod2
procollagen lysine, 2-oxoglutarate 5-dioxygenase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 8:93,084,548...93,167,255
Ensembl chr 8:93,084,513...93,167,255
G
Pros1
protein S
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr11:230,597...311,288
Ensembl chr11:230,696...311,286
G
Ptpn22
protein tyrosine phosphatase, non-receptor type 22
ISO
DNA: snp : cds : rs2476601
RGD
PMID:15934099
RGD:6484550
NCBI chr 2:191,366,761...191,414,782
Ensembl chr 2:191,366,808...191,414,779
G
R3hdm2
R3H domain containing 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 7:63,212,519...63,340,574
Ensembl chr 7:63,232,346...63,340,540
G
Rasgef1b
RasGEF domain family, member 1B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr14:9,859,512...10,380,044
Ensembl chr14:9,860,247...10,379,741
G
Rbm47
RNA binding motif protein 47
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr14:42,053,290...42,191,572
Ensembl chr14:42,154,142...42,189,431
G
Rere
arginine-glutamic acid dipeptide repeats
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 5:160,765,855...161,097,678
Ensembl chr 5:160,765,934...161,097,677
G
RGD1359108
similar to RIKEN cDNA 3110043O21
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 5:49,766,340...49,791,434
Ensembl chr 5:49,766,325...49,791,408
G
Rhobtb1
Rho-related BTB domain containing 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr20:19,327,142...19,456,121
Ensembl chr20:19,327,155...19,403,012
G
Rnf103
ring finger protein 103
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 4:103,526,456...103,542,529
Ensembl chr 4:103,526,502...103,555,919
G
RT1-Ba
RT1 class II, locus Ba
ISO
DNA:polymorphism (human)
RGD
PMID:19811310 PMID:10457895
RGD:5147815 , RGD:5147863
NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
G
RT1-Bb
RT1 class II, locus Bb
ISO
DNA:polymorphism (human)
RGD
PMID:10457895
RGD:5147863
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
G
RT1-Db1
RT1 class II, locus Db1
ISO
DNA:polymorphism (human)
RGD
PMID:19908388 PMID:10457895
RGD:5147587 , RGD:5147863
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
G
Selp
selectin P
severity
ISO
protein:increased expression:plasma
RGD
PMID:21124648
RGD:6219006
NCBI chr13:76,476,229...76,511,846
Ensembl chr13:76,476,295...76,511,845
G
Sh2d2a
SH2 domain containing 2A
ISO
RGD
PMID:15129233
RGD:2298870
NCBI chr 2:173,312,253...173,318,810
Ensembl chr 2:173,312,253...173,318,810
G
Sh3bgrl2
SH3 domain binding glutamate-rich protein like 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 8:84,461,019...84,553,124
Ensembl chr 8:84,461,121...84,551,564
G
Sik1
salt-inducible kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr20:9,949,407...9,959,036
Ensembl chr20:9,947,396...9,958,991
G
Sipa1l1
signal-induced proliferation-associated 1 like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 6:101,839,351...102,118,408
Ensembl chr 6:101,839,404...102,116,950
G
Slc11a1
solute carrier family 11 member 1
ISO
DNA:repeat:promoter (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16597321 PMID:10857800
RGD:5684977
NCBI chr 9:75,957,193...75,968,115
Ensembl chr 9:75,957,316...75,968,101
G
Slc22a16
solute carrier family 22 member 16
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr20:43,972,808...44,068,447
Ensembl chr20:43,972,836...44,065,019
G
Slc26a2
solute carrier family 26 member 2
susceptibility
ISO
DNA:SNPs: :
RGD
PMID:17393463
RGD:13208931
NCBI chr18:54,648,276...54,666,627
Ensembl chr18:54,652,951...54,666,626
G
Slc2a3
solute carrier family 2 member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 4:155,960,944...156,026,000
Ensembl chr 4:155,960,946...156,025,472
G
Smad3
SMAD family member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 8:64,126,829...64,236,960
Ensembl chr 8:64,110,039...64,236,960
G
Stab1
stabilin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr16:6,330,435...6,360,934
Ensembl chr16:6,330,444...6,360,923
G
Stat3
signal transducer and activator of transcription 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
G
Stim1
stromal interaction molecule 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 1:156,656,246...156,818,777
Ensembl chr 1:156,656,013...156,818,363
G
Tcf7l2
transcription factor 7 like 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 1:254,785,956...254,978,967
Ensembl chr 1:254,786,091...254,978,967
G
Tfdp1
transcription factor Dp-1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr16:76,162,040...76,200,871
Ensembl chr16:76,162,043...76,200,817
G
Tfpi
tissue factor pathway inhibitor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 3:69,533,156...69,582,547
Ensembl chr 3:69,533,156...69,576,880
G
Thbd
thrombomodulin
ISO
protein:increased expression:serum
RGD
PMID:15209962
RGD:5685023
NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193
G
Thbs1
thrombospondin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 3:105,056,293...105,071,445
Ensembl chr 3:105,056,292...105,071,440
G
Tnfaip6
TNF alpha induced protein 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 3:36,502,250...36,521,652
Ensembl chr 3:36,502,188...36,521,649
G
Tnfaip8
TNF alpha induced protein 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr18:43,183,854...43,299,512
Ensembl chr18:43,183,916...43,299,517
G
Tnfrsf22
tumor necrosis factor receptor superfamily, member 22
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 1:198,840,452...198,860,713
Ensembl chr 1:198,840,453...198,856,309
G
Tnik
TRAF2 and NCK interacting kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 2:111,184,352...111,587,993
Ensembl chr 2:111,184,387...111,580,750
G
Treml1
triggering receptor expressed on myeloid cells-like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 9:12,635,584...12,642,324
Ensembl chr 9:12,635,590...12,642,347
G
Ttll5
tubulin tyrosine ligase like 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 6:105,483,091...105,700,920
Ensembl chr 6:105,483,191...105,700,934
G
Tubb2a
tubulin, beta 2A class IIa
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr17:30,796,842...30,800,713
Ensembl chr17:30,747,503...30,800,714
G
Ube2e1
ubiquitin-conjugating enzyme E2E 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr15:7,439,751...7,493,410
Ensembl chr15:7,439,759...7,493,400
G
Ube3c
ubiquitin protein ligase E3C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 4:5,648,932...5,749,922
Ensembl chr 4:5,648,690...5,750,011
G
Wasf3
WASP family member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr12:8,563,805...8,660,799
Ensembl chr12:8,562,062...8,660,751
G
Wwox
WW domain-containing oxidoreductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr19:42,432,141...43,360,278
Ensembl chr19:42,432,152...43,359,391
G
Zfand3
zinc finger AN1-type containing 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr20:8,083,407...8,279,617
Ensembl chr20:8,082,200...8,279,616
G
Zfc3h1
zinc finger, C3H1-type containing
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19565504
NCBI chr 7:51,008,251...51,064,666
Ensembl chr 7:51,007,984...51,064,661
G
Anxa2
annexin A2
disease_progression
ISO
protein:increased expression:chondrocyte:
RGD
PMID:10903884
RGD:10053727
NCBI chr 8:70,105,268...70,141,663
Ensembl chr 8:70,105,253...70,141,658
G
Anxa5
annexin A5
disease_progression
ISO
protein:increased expression:chondrocyte:
RGD
PMID:10903884
RGD:10053727
NCBI chr 2:119,314,007...119,344,703
Ensembl chr 2:119,314,007...119,353,369
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Ar
androgen receptor
ISO
DNA:repeat:exon:c.172(CAG)8-34 (human)
RGD
PMID:16098017
RGD:10043199
NCBI chr X:63,104,771...63,273,934
Ensembl chr X:63,104,771...63,273,925
G
Aspn
asporin
severity
ISO
mRNA:increased expression:cartilage: DNA:repeats:exon:
RGD
PMID:15640800 PMID:15640800
RGD:9684965 , RGD:9684965
NCBI chr17:15,079,910...15,104,369
Ensembl chr17:15,080,639...15,104,041
G
B2m
beta-2 microglobulin
ISO
protein:increased expression:serum
RGD
PMID:18795399
RGD:6482710
NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766
G
Bax
BCL2 associated X, apoptosis regulator
treatment
IEP
RGD
PMID:20131282
RGD:6907382
NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368
G
Bcl2
BCL2, apoptosis regulator
treatment
IEP
RGD
PMID:20131282
RGD:6907382
NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
G
Bglap
bone gamma-carboxyglutamate protein
ISO IDA
RGD
PMID:22294259 PMID:21387139
RGD:6483563 , RGD:6483595
NCBI chr 2:173,838,518...173,839,495
Ensembl chr 2:173,838,518...173,839,495
G
Ccr2
C-C motif chemokine receptor 2
ISO
mRNA,protein:increased expression:dorsal root ganglion:
RGD
PMID:23185004
RGD:8661785
NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
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Cd36
CD36 molecule
disease_progression
ISO IEP
RGD
PMID:21765106 PMID:19342682
RGD:6893494 , RGD:6893565
NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903
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Ctnnb1
catenin beta 1
IEP
protein:increased expression:cartilage:
RGD
PMID:22702043
RGD:10395278
NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111
G
Cyp19a1
cytochrome P450, family 19, subfamily a, polypeptide 1
ISO
DNA:SNP:intron, 5' utr: (rs1062033) (human)
RGD
PMID:20417295
RGD:10045662
NCBI chr 8:54,552,978...54,580,375
Ensembl chr 8:54,553,165...54,580,758
G
Ddr2
discoidin domain receptor tyrosine kinase 2
ameliorates
IEP
RGD
PMID:31258642
RGD:150519887
NCBI chr13:82,193,623...82,318,229
Ensembl chr13:82,195,463...82,317,363
G
Dgat2
diacylglycerol O-acyltransferase 2
severity
ISO
mRNA,protein:increased expression:fat pad:
RGD
PMID:21765106
RGD:6893494
NCBI chr 1:153,454,078...153,484,432
Ensembl chr 1:153,454,080...153,484,428
G
Dkk1
dickkopf WNT signaling pathway inhibitor 1
IMP
RGD
PMID:20131282
RGD:6907382
NCBI chr 1:228,381,521...228,385,202
Ensembl chr 1:228,381,521...228,385,202
G
Eef1a1
eukaryotic translation elongation factor 1 alpha 1
IEP
RGD
PMID:25435813
RGD:13506963
NCBI chr 8:79,341,554...79,344,784
Ensembl chr 8:79,341,557...79,344,839
G
Efemp1
EGF containing fibulin extracellular matrix protein 1
ISO
protein:increased expression:serum:
RGD
PMID:22275171
RGD:10401792
NCBI chr14:102,610,813...102,690,027
Ensembl chr14:102,610,908...102,690,018
G
Epas1
endothelial PAS domain protein 1
no_association
ISO
DNA:SNP:5' utr: (rs17039192) (human)
RGD
PMID:22247019 PMID:20495570
RGD:10395367 , RGD:10395368
NCBI chr 6:7,790,236...7,871,717
Ensembl chr 6:7,790,647...7,871,228
G
Epo
erythropoietin
treatment
ISO
RGD
PMID:25422652
RGD:10400892
NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946
G
Esr1
estrogen receptor 1
ISO
DNA:repeat:promoter:-1174(TA)9-25 (human) DNA:polymorphisms, haplotype:intron, exon DNA:SNP:cds:c.1782G>A (rs2228480) (human) DNA:SNPs:intron: (rs2234693, rs9340799) (human)
RGD
PMID:16098017 PMID:15380041 PMID:20128071 PMID:24772413
RGD:10043199 , RGD:10045840 , RGD:10045835 , RGD:10045829
NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002
G
Esr2
estrogen receptor 2
ISO
DNA:repeat:intron:c.1092+3607(CA)13-27 (human)
RGD
PMID:16098017
RGD:10043199
NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919
G
F2
coagulation factor II, thrombin
ISO
RGD
PMID:21041276
RGD:5147774
NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
G
Fgfr3
fibroblast growth factor receptor 3
treatment
ISO
RGD
PMID:27159076
RGD:11568056
NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
G
Gdf5
growth differentiation factor 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30374069
NCBI chr 3:144,454,316...144,458,508
Ensembl chr 3:144,454,338...144,458,612
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Gsr
glutathione-disulfide reductase
ISO
protein:increased expression:synovial fluid
RGD
PMID:16289733
RGD:10401830
NCBI chr16:58,482,209...58,525,256
Ensembl chr16:58,482,505...58,525,661
G
Hmgb1
high mobility group box 1
severity
ISO
protein:increased expression:synovial fluid mRNA:decreased expression:articular cartilage
RGD
PMID:21968272 PMID:19139395
RGD:10402061 , RGD:10402184
NCBI chr12:5,972,950...5,979,658
Ensembl chr12:5,901,586...5,978,565 Ensembl chr16:5,901,586...5,978,565
G
Hmgb2
high mobility group box 2
severity
ISO
mRNA:decreased expression:articular cartilage
RGD
PMID:19139395 PMID:19139395
RGD:10402184 , RGD:10402184
NCBI chr16:32,710,651...32,713,230
Ensembl chr16:32,710,658...32,713,140
G
Hsp90aa1
heat shock protein 90 alpha family class A member 1
ISO
mRNA:increased expression:tibial plateaux (mouse) mRNA:decreased expression:blood (human)
RGD
PMID:9497939 PMID:16139532
RGD:10412655 , RGD:10429075
NCBI chr 6:129,702,376...129,707,907
Ensembl chr 6:129,702,383...129,707,268
G
Igf1
insulin-like growth factor 1
disease_progression severity
ISO IEP
protein:decreased expression:plasma (rat) mRNA:increased expression:meniscus:
RGD
PMID:8461919 PMID:17133593 PMID:9497937 PMID:20633672
RGD:10045862 , RGD:10003130 , RGD:10046057 , RGD:10045868
NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
G
Igf1r
insulin-like growth factor 1 receptor
ISO
RGD
PMID:8948288
RGD:10045874
NCBI chr 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777
G
Il1a
interleukin 1 alpha
IEP ISO
protein:increased expression:cartilage cell:
RGD
PMID:24534736 PMID:9497937 PMID:9034998
RGD:10045944 , RGD:10046057 , RGD:10045946
NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
G
Il2
interleukin 2
severity
ISO
protein:increased expression:synovial fluid:
RGD
PMID:22035391
RGD:5687147
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
G
Il4
interleukin 4
susceptibility
IDA ISO
DNA:repeat:intron: (rs8179190) (human)
RGD
PMID:18182309 PMID:24406619
RGD:2317291 , RGD:10402787
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
G
Kl
Klotho
susceptibility
ISO
DNA:SNPs:promoter,exon:395G>A,2998C>T(human)
RGD
PMID:18465812
RGD:10403041
NCBI chr12:490,402...531,417
Ensembl chr12:490,399...530,080
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Lep
leptin
ISO
protein:decreased expression:serum:
RGD
PMID:23575542
RGD:10411887
NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262
G
Lepr
leptin receptor
susceptibility
ISO
protein:increased expression:serum: DNA:SNP:cds:668A>G(human)
RGD
PMID:23575542 PMID:23575542
RGD:10411887 , RGD:10411887
NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
G
Lpar1
lysophosphatidic acid receptor 1
susceptibility
ISO
DNA:snp:promoter:g.-2820G>A (rs10980705) (human)
RGD
PMID:18325907
RGD:10054291
NCBI chr 5:73,229,047...73,347,874
Ensembl chr 5:73,229,625...73,369,895
G
Ltbp1
latent transforming growth factor beta binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30374069
NCBI chr 6:20,029,629...20,425,339
Ensembl chr 6:20,029,629...20,425,349
G
Mir219a1
microRNA 219a-1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:35962723
NCBI chr20:4,829,687...4,829,796
Ensembl chr20:4,829,687...4,829,796
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Mir223
microRNA 223
IEP
RNA:increased expression:synovial membrane
RGD
PMID:30106113
RGD:25824950
NCBI chr X:61,141,887...61,141,996
Ensembl chr X:61,141,887...61,141,996
G
Mmp1
matrix metallopeptidase 1
treatment
IEP
RGD
PMID:21167838
RGD:8549737
NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
G
Mmp13
matrix metallopeptidase 13
ameliorates
IEP
RGD
PMID:31258642
RGD:150519887
NCBI chr 8:4,497,960...4,508,239
Ensembl chr 8:4,497,960...4,508,239
G
Mmp3
matrix metallopeptidase 3
treatment
IMP
RGD
PMID:22114772
RGD:8694098
NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961
G
Penk
proenkephalin
treatment
IEP
RGD
PMID:21928671
RGD:10003115
NCBI chr 5:17,183,799...17,189,160
Ensembl chr 5:17,183,806...17,189,129
G
Ptges
prostaglandin E synthase
IEP
RGD
PMID:17530714
RGD:2300093
NCBI chr 3:14,177,892...14,189,236
G
Sbno1
strawberry notch homolog 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30374069
NCBI chr12:32,175,176...32,234,200
Ensembl chr12:32,185,485...32,230,158
G
Slc26a2
solute carrier family 26 member 2
susceptibility
ISO
DNA:deletion:promoter:-716_-713del4A(human)
RGD
PMID:11558903
RGD:13208866
NCBI chr18:54,648,276...54,666,627
Ensembl chr18:54,652,951...54,666,626
G
Tgfa
transforming growth factor alpha
IEP
protein:increased expression:cartilage
RGD
PMID:17968906
RGD:2317486
NCBI chr 4:118,618,043...118,700,897
Ensembl chr 4:118,618,269...118,700,894
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Vdr
vitamin D receptor
ISO
GAD
PMID:15118671
RGD:1331525
NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
G
Wwp2
WW domain containing E3 ubiquitin protein ligase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30374069
NCBI chr19:35,346,826...35,471,251
Ensembl chr19:35,346,814...35,472,699
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Cav1
caveolin 1
susceptibility no_association
ISO
DNA:SNPs:enhancer, intron:multiple DNA:SNPs:3' utr, intron: (rs9920, rs729949, rs3815412) (human)
RGD
PMID:22402147 PMID:22402147
RGD:8661768 , RGD:8661768
NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705
G
Ccl2
C-C motif chemokine ligand 2
ISO
mRNA,protein:increased expression:skin:
RGD
PMID:12925209
RGD:8661733
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
G
Ccr2
C-C motif chemokine receptor 2
ISO
mRNA,protein:increased expression:skin:
RGD
PMID:12925209
RGD:8661733
NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
G
Fas
Fas cell surface death receptor
ISO
RGD
PMID:17102953
RGD:12903974
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
G
Faslg
Fas ligand
ISO
RGD
PMID:17102953
RGD:12903974
NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
G
Il2
interleukin 2
susceptibility
ISO
DNA:polymorphism::-384T>G(human)
RGD
PMID:17444587
RGD:4142872
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
G
Jak2
Janus kinase 2
ISO
RGD
PMID:20808962
RGD:4892610
NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
G
Kdr
kinase insert domain receptor
ISO
protein:increased expression:serum:
RGD
PMID:19886888
RGD:8551850
NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
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Pgf
placental growth factor
ISO
protein:increased expression:plasma
RGD
PMID:22461185
RGD:6483571
NCBI chr 6:104,816,102...104,826,685
Ensembl chr 6:104,816,104...104,826,685
G
Serpine1
serpin family E member 1
ISO
mRNA,protein:increased expression:skin:
RGD
PMID:15730388
RGD:13208597
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
G
Stat4
signal transducer and activator of transcription 4
no_association susceptibility
ISO
DNA:SNPs:introns: (rs10168266, rs3821236) (human) DNA:SNP:intron: (rs7574865) (human)
RGD
PMID:23755762 PMID:23755762 PMID:19286670
RGD:8661701 , RGD:8661701 , RGD:8661714
NCBI chr 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540
G
Tap2
transporter 2, ATP binding cassette subfamily B member
susceptibility
ISO
RGD
PMID:16112028
RGD:1578361
NCBI chr20:4,636,347...4,650,387
Ensembl chr20:4,636,357...4,650,407
G
Col1a1
collagen type I alpha 1 chain
ISO
mRNA:increased expression:dermis
RGD
PMID:15727634
RGD:5688298
NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
G
Cdkn1a
cyclin-dependent kinase inhibitor 1A
ISO
mRNA,protein:increased expression:skin:
RGD
PMID:15803328
RGD:8662838
NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585
G
Csf3
colony stimulating factor 3
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:15863969
NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
G
Hgf
hepatocyte growth factor
treatment
ISO
RGD
PMID:14712301
RGD:8548627
NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409
G
Icam1
intercellular adhesion molecule 1
ISO
protein:increased expression:serum
RGD
PMID:7916356
RGD:8158116
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
G
Il13
interleukin 13
ISO
protein:increased expression:serum
RGD
PMID:12920362
RGD:8549537
NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
G
Lmna
lamin A/C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15726408
NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
G
Mmp1
matrix metallopeptidase 1
ISO
RGD
PMID:9804345
RGD:1582543
NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
G
Tgfb1
transforming growth factor, beta 1
ISO
RGD
PMID:7510487
RGD:7394847
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
G
Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9843018
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
G
Psmb8
proteasome 20S subunit beta 8
ISO
ClinVar Annotator: match by term: Nodular erythema digital changes
ClinVar
PMID:20159315 PMID:20534754 PMID:21129723 PMID:21953331 PMID:25741868 PMID:26524591 PMID:28492532 More...
NCBI chr20:4,652,159...4,655,122
Ensembl chr20:4,652,159...4,655,283
G
Serpina1
serpin family A member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:3259592 PMID:6982619
NCBI chr 6:122,866,314...122,888,339
Ensembl chr 6:122,866,312...122,888,339
G
Acaa2
acetyl-CoA acyltransferase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18784066
NCBI chr18:68,345,136...68,373,246
Ensembl chr18:68,345,012...68,373,249
G
Acan
aggrecan
treatment
ISO IEP
RGD
PMID:22833446 PMID:21853458
RGD:11570535 , RGD:11570544
NCBI chr 1:132,981,582...133,044,416
Ensembl chr 1:132,981,582...133,043,627
G
Aco1
aconitase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18784066
NCBI chr 5:55,259,841...55,315,872
Ensembl chr 5:55,259,827...55,316,391
G
Actb
actin, beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18784066
NCBI chr12:11,663,112...11,666,697
Ensembl chr12:11,663,109...11,672,877
G
Adam12
ADAM metallopeptidase domain 12
susceptibility
ISO
RGD
PMID:15334463
RGD:1625347
NCBI chr 1:188,686,984...189,014,206
Ensembl chr 1:188,686,989...189,020,667
G
Adam15
ADAM metallopeptidase domain 15
ISO
RGD
PMID:15818704
RGD:1559176
NCBI chr 2:174,754,629...174,765,136
Ensembl chr 2:174,754,633...174,765,113
G
Adamts14
ADAM metallopeptidase with thrombospondin type 1 motif, 14
ISO
DNA:missense mutation:cds: (rs4747096) (human)
RGD
PMID:18790654
RGD:6771189
NCBI chr20:29,143,029...29,219,846
Ensembl chr20:29,144,354...29,219,866
G
Adamts4
ADAM metallopeptidase with thrombospondin type 1 motif, 4
treatment
ISO
associated with Bone Diseases, Metabolic
RGD
PMID:22432033
RGD:10043110
NCBI chr13:83,670,556...83,680,045
Ensembl chr13:83,670,183...83,680,065
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Adamts5
ADAM metallopeptidase with thrombospondin type 1 motif, 5
treatment disease_progression no_association
ISO IEP IMP
associated with Bone Diseases, Metabolic mRNA:increased expression:cartilage protein:alternative form:synovium DNA:missense mutations:exon: (rs226794, rs2830585) (human) DNA:missense mutation:exon:p.R614H (human)
RGD
PMID:23982761 PMID:22432033 PMID:17530714 PMID:22084394 PMID:23954517 PMID:11801682 PMID:18240210 PMID:23546441 PMID:22961118 More...
RGD:10043101 , RGD:10043110 , RGD:2300093 , RGD:10003165 , RGD:10043107 , RGD:10043106 , RGD:10043105 , RGD:10043103 , RGD:10043102
NCBI chr11:25,000,627...25,047,205
Ensembl chr11:25,000,637...25,047,205
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Adgrg2
adhesion G protein-coupled receptor G2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17568789
NCBI chr X:34,297,402...34,422,590
Ensembl chr X:34,297,402...34,422,609
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Ager
advanced glycosylation end product-specific receptor
treatment
IEP ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16948116 PMID:23894457
RGD:8695985
NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
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Ak4
adenylate kinase 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18784066
NCBI chr 5:116,039,222...116,099,064
Ensembl chr 5:116,039,616...116,098,618
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Akr1c1
aldo-keto reductase family 1, member C1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18784066
NCBI chr17:65,810,474...65,837,385
Ensembl chr17:65,810,475...65,837,326
G
Akr1c2
aldo-keto reductase family 1, member C2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18784066
NCBI chr17:65,759,778...65,808,013
Ensembl chr17:65,759,788...65,775,764
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Aldh1a2
aldehyde dehydrogenase 1 family, member A2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24728293
NCBI chr 8:71,877,850...71,957,107
Ensembl chr 8:71,877,850...71,957,107
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Aspn
asporin
no_association susceptibility
ISO
DNA:repeats:exon: CTD Direct Evidence: marker/mechanism
OMIM CTD RGD
PMID:16542493
RGD:9684966
NCBI chr17:15,079,910...15,104,369
Ensembl chr17:15,080,639...15,104,041
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Atp1a3
ATPase Na+/K+ transporting subunit alpha 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18784066
NCBI chr 1:80,572,790...80,601,936
Ensembl chr 1:80,572,796...80,601,918
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Atp6v1b2
ATPase H+ transporting V1 subunit B2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18784066
NCBI chr16:20,617,515...20,641,651
Ensembl chr16:20,617,518...20,641,745
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Atp7a
ATPase copper transporting alpha
ISS
OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:612400
MouseDO
NCBI chr X:71,094,144...71,201,550
Ensembl chr X:71,094,202...71,198,354
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Bad
BCL2-associated agonist of cell death
ISO
RGD
PMID:19217321
RGD:10053643
NCBI chr 1:204,133,502...204,142,829
Ensembl chr 1:204,131,501...204,142,823
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Bag6
BAG cochaperone 6
susceptibility
ISO
DNA:SNP: :rs3117582(human)
RGD
PMID:25231575
RGD:14390133
NCBI chr20:3,675,938...3,690,414
Ensembl chr20:3,675,938...3,688,657
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Bax
BCL2 associated X, apoptosis regulator
ISO
protein:increased expression:chondrocyte
RGD
PMID:19217321 PMID:16864079
RGD:10053643 , RGD:10054095
NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368
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Bcl2
BCL2, apoptosis regulator
ISO
protein:increased expression:chondrocyte
RGD
PMID:19217321 PMID:16864079
RGD:10053643 , RGD:10054095
NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
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Becn1
beclin 1
ISO
protein:decreased expression:cartilage
RGD
PMID:20187128 PMID:20187128
RGD:6483317 , RGD:6483317
NCBI chr10:86,231,387...86,246,742
Ensembl chr10:86,231,388...86,246,742
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Bglap
bone gamma-carboxyglutamate protein
disease_progression
ISO
RGD
PMID:20157712
RGD:6483599
NCBI chr 2:173,838,518...173,839,495
Ensembl chr 2:173,838,518...173,839,495
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Bmp2
bone morphogenetic protein 2
susceptibility
ISO
RGD
PMID:15334463
RGD:1625347
NCBI chr 3:120,812,660...120,822,579
Ensembl chr 3:120,812,882...120,821,397
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Bmp4
bone morphogenetic protein 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20008919
NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306
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Bmp6
bone morphogenetic protein 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20008919
NCBI chr17:26,318,121...26,469,691
Ensembl chr17:26,318,569...26,470,365
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Bmp7
bone morphogenetic protein 7
ISS
OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:610839 | OMIM:612400 | OMIM:612401
MouseDO
NCBI chr 3:161,639,915...161,716,938
Ensembl chr 3:161,516,462...161,716,788
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Bmpr1a
bone morphogenetic protein receptor type 1A
ISS
OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:610839 | OMIM:612400 | OMIM:612401
MouseDO
NCBI chr16:9,736,390...9,829,825
Ensembl chr16:9,736,630...9,780,616
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Calca
calcitonin-related polypeptide alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16690336
NCBI chr 1:168,878,212...168,883,176
Ensembl chr 1:168,878,214...168,883,105
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Casp3
caspase 3
treatment
IEP
RGD
PMID:29138829
RGD:13782343
NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648
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Casp9
caspase 9
treatment
IEP
RGD
PMID:29138829
RGD:13782343
NCBI chr 5:154,108,872...154,126,628
Ensembl chr 5:154,109,046...154,126,626
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Cav1
caveolin 1
IEP
RGD
PMID:16508959
RGD:10043354
NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705
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Ccl22
C-C motif chemokine ligand 22
ISO
protein:increased expression:plasma:
RGD
PMID:19942450
RGD:10054497
NCBI chr19:10,257,602...10,264,373
Ensembl chr19:10,257,601...10,264,400
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Ccr4
C-C motif chemokine receptor 4
ISO
protein:increased expression:synovial membrane:
RGD
PMID:19942450
RGD:10054497
NCBI chr 8:114,176,291...114,182,033
Ensembl chr 8:114,176,974...114,178,056
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Cd36
CD36 molecule
susceptibility
ISO
RGD
PMID:15334463
RGD:1625347
NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903
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Cdkn2a
cyclin-dependent kinase inhibitor 2A
treatment
IEP
RGD
PMID:24009074
RGD:10043190
NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149
G
Cebpb
CCAAT/enhancer binding protein beta
susceptibility
ISO
RGD
PMID:22095691
RGD:10401214
NCBI chr 3:156,398,035...156,399,466
Ensembl chr 3:156,397,052...156,399,473
G
Chi3l1
chitinase 3 like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18784066
NCBI chr13:45,641,802...45,649,787
Ensembl chr13:45,641,802...45,649,787
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Cilp
cartilage intermediate layer protein
disease_progression
ISO
RGD
PMID:15334463
RGD:1625347
NCBI chr 8:65,777,281...65,792,251
Ensembl chr 8:65,777,281...65,792,251
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Clec3b
C-type lectin domain family 3, member B
disease_progression
ISO
RGD
PMID:15334463
RGD:1625347
NCBI chr 8:122,810,120...122,815,837
Ensembl chr 8:122,810,149...122,815,835
G
Clic1
chloride intracellular channel 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18784066
NCBI chr20:3,764,867...3,773,711
Ensembl chr20:3,761,461...3,773,712
G
Clic4
chloride intracellular channel 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18784066
NCBI chr 5:147,453,702...147,513,455
Ensembl chr 5:147,453,712...147,513,452
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Clu
clusterin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17568789 PMID:18784066
NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315
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Col11a1
collagen type XI alpha 1 chain
ISS
OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:610839 | OMIM:612400 | OMIM:612401
MouseDO
NCBI chr 2:201,820,715...202,013,853
Ensembl chr 2:201,820,715...202,013,853
G
Col1a1
collagen type I alpha 1 chain
no_association
ISO
DNA:SNP:intron:IVS1
RGD
PMID:10743824
RGD:5688331
NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
G
Col1a2
collagen type I alpha 2 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18784066
NCBI chr 4:32,563,938...32,598,868
Ensembl chr 4:32,563,381...32,598,867
G
Col2a1
collagen type II alpha 1 chain
onset treatment
ISO IDA
DNA:missense mutation:exon:p.R75C (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:9061443 PMID:16189708 PMID:16755660 PMID:19216861
RGD:8657384 , RGD:8661226
NCBI chr 7:129,098,489...129,127,560
Ensembl chr 7:129,098,786...129,127,546
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Col6a2
collagen type VI alpha 2 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18784066
NCBI chr20:12,021,676...12,049,425
Ensembl chr20:12,021,767...12,057,564
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Col9a1
collagen type IX alpha 1 chain
ISS
OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:610839 | OMIM:612400 | OMIM:612401
MouseDO
NCBI chr 9:26,585,034...26,668,222
Ensembl chr 9:26,585,034...26,668,213
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Comp
cartilage oligomeric matrix protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7670472
NCBI chr16:19,047,206...19,055,584
Ensembl chr16:19,047,207...19,055,845
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Ctsd
cathepsin D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18784066
NCBI chr 1:197,527,467...197,539,343
Ensembl chr 1:197,527,467...197,539,488
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Ctsk
cathepsin K
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30664745
NCBI chr 2:183,058,586...183,069,551
Ensembl chr 2:183,058,569...183,069,550
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Cxcl2
C-X-C motif chemokine ligand 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15292528
NCBI chr14:17,181,030...17,183,075
Ensembl chr14:17,181,062...17,183,075
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Cxcl6
C-X-C motif chemokine ligand 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15292528
NCBI chr14:17,310,790...17,312,250
Ensembl chr14:17,310,426...17,313,093
G
Dapp1
dual adaptor of phosphotyrosine and 3-phosphoinositides 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18784066
NCBI chr 2:226,425,890...226,475,445
Ensembl chr 2:226,425,898...226,475,423
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Ddr2
discoidin domain receptor tyrosine kinase 2
disease_progression
ISO
RGD
PMID:24938620
RGD:150429973
NCBI chr13:82,193,623...82,318,229
Ensembl chr13:82,195,463...82,317,363
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Ddx3x
DEAD-box helicase 3, X-linked
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18784066
NCBI chr X:9,479,532...9,493,169
Ensembl chr X:9,479,532...9,493,168
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Dpep1
dipeptidase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30664745
NCBI chr19:51,209,831...51,237,004
Ensembl chr19:51,219,660...51,235,257
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Dpysl2
dihydropyrimidinase-like 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18784066
NCBI chr15:41,005,551...41,111,724
Ensembl chr15:41,005,551...41,111,829
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Edil3
EGF like repeats and discoidin domains 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18784066
NCBI chr 2:19,890,396...20,405,028
Ensembl chr 2:19,890,373...20,405,008
G
Eef2
eukaryotic translation elongation factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18784066
NCBI chr 7:8,533,248...8,538,518
Ensembl chr 7:8,533,116...8,559,183
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Efemp2
EGF containing fibulin extracellular matrix protein 2
IEP
mRNA:increased expression:articular cartilage of joint (rat)
RGD
PMID:31396630
RGD:42722015
NCBI chr 1:202,781,692...202,789,784
Ensembl chr 1:202,781,665...202,789,414
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Egr1
early growth response 1
ISO
RGD
PMID:10806043
RGD:1626498
NCBI chr18:26,462,967...26,466,766
Ensembl chr18:26,462,981...26,466,766
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Eno1
enolase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18784066
NCBI chr 5:160,719,951...160,731,337
Ensembl chr 5:160,719,951...160,731,336
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Enpp1
ectonucleotide pyrophosphatase/phosphodiesterase 1
ISS
OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:610839 | OMIM:612400 | OMIM:612401
MouseDO
NCBI chr 1:20,698,746...20,763,741
Ensembl chr 1:20,698,764...20,763,715
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Epas1
endothelial PAS domain protein 1
ISO
protein:increased expression:layer of synovial tissue, stromal cell mRNA:increased expression:cartilage
RGD
PMID:21869830 PMID:12823854 PMID:20495569 PMID:20495569
RGD:10395364 , RGD:10395366 , RGD:10395365 , RGD:10395365
NCBI chr 6:7,790,236...7,871,717
Ensembl chr 6:7,790,647...7,871,228
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Ercc1
ERCC excision repair 1, endonuclease non-catalytic subunit
ISO
mRNA:decreased expression:knee, articular cartilage of joint
RGD
PMID:24964749
RGD:10045611
NCBI chr 1:78,971,310...79,007,963
Ensembl chr 1:78,996,390...79,007,963
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Erg
ETS transcription factor ERG
ISS
OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:610839 | OMIM:612400 | OMIM:612401
MouseDO
NCBI chr11:34,678,614...34,900,951
Ensembl chr11:34,678,618...34,845,871
G
Errfi1
ERBB receptor feedback inhibitor 1
ISS
OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:610839 | OMIM:612400 | OMIM:612401
MouseDO
NCBI chr 5:161,323,981...161,337,289
Ensembl chr 5:161,323,998...161,337,282
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Esd
esterase D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18784066
NCBI chr15:50,043,634...50,063,134
Ensembl chr15:50,043,632...50,063,144
G
Esr1
estrogen receptor 1
ISO
DNA:SNP:intron: (rs2234693) (human) DNA:SNPs:introns: (rs2234693, rs9340799) (human)
RGD
PMID:20417295 PMID:19884274
RGD:10045662 , RGD:10045830
NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002
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Esr2
estrogen receptor 2
ISO
DNA:SNP:intron: (rs1256031) (human)
RGD
PMID:19884274
RGD:10045830
NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919
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Etfa
electron transfer flavoprotein subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18784066
NCBI chr 8:55,835,115...55,891,890
Ensembl chr 8:55,835,134...55,891,969
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Ezr
ezrin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18784066
NCBI chr 1:46,967,961...47,011,505
Ensembl chr 1:46,967,658...47,011,505
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Fcgr2a
Fc gamma receptor 2A
ISO
RGD
PMID:8254199
RGD:5147984
NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967
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Fgf18
fibroblast growth factor 18
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30664745
NCBI chr10:17,706,011...17,737,702
Ensembl chr10:17,706,174...17,736,818
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Fgfr1
Fibroblast growth factor receptor 1
ISO
RGD
PMID:22393163
RGD:10402075
NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350
G
Flt1
Fms related receptor tyrosine kinase 1
ISO
mRNA:increased expression:trabecular bone:
RGD
PMID:15781004
RGD:10402109
NCBI chr12:7,296,899...7,468,626
Ensembl chr12:7,297,292...7,468,626
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Fn1
fibronectin 1
ISO
protein:increased expression:cartilage:
RGD
PMID:8646429
RGD:10402156
NCBI chr 9:73,196,044...73,264,695
Ensembl chr 9:73,196,044...73,264,678
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Frzb
frizzled-related protein
susceptibility
ISO
ClinVar Annotator: match by term: Osteoarthritis | ClinVar Annotator: match by term: Osteoarthritis susceptibility 1 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:15210948 PMID:25741868
NCBI chr 3:65,332,274...65,365,208
Ensembl chr 3:65,332,277...65,365,208
G
Ftl1
ferritin light chain 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18784066
NCBI chr 1:95,936,387...95,938,234
Ensembl chr 1:95,936,387...95,939,725 Ensembl chr10:95,936,387...95,939,725
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Gapdh
glyceraldehyde-3-phosphate dehydrogenase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18784066
NCBI chr 4:157,962,312...157,967,158
Ensembl chr 4:157,962,343...157,966,235
G
Gdf5
growth differentiation factor 5
ISO ISS
ClinVar Annotator: match by term: Osteoarthritis susceptibility 5 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:17384641 PMID:18830904 PMID:25741868 PMID:28492532 PMID:30664745
NCBI chr 3:144,454,316...144,458,508
Ensembl chr 3:144,454,338...144,458,612
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Gh1
growth hormone 1
ISO
protein:increased expression:plasma
RGD
PMID:7152485
RGD:10003140
NCBI chr10:91,228,102...91,230,079
Ensembl chr10:91,228,103...91,230,078
G
Ghr
growth hormone receptor
ISO
DNA:deletion:exon:
RGD
PMID:23740230
RGD:10003113
NCBI chr 2:52,541,452...52,804,960
Ensembl chr 2:52,542,594...52,804,735
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Gls
glutaminase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18784066
NCBI chr 9:49,344,616...49,416,900
Ensembl chr 9:49,344,781...49,416,900
G
Gstk1
glutathione S-transferase kappa 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18784066
NCBI chr 4:71,118,979...71,123,298
Ensembl chr 4:71,118,896...71,123,292
G
Hadha
hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18784066
NCBI chr 6:26,187,969...26,227,605
Ensembl chr 6:26,187,956...26,227,869
G
Hbp1
HMG-box transcription factor 1
ISO
RGD
PMID:22586168
RGD:10402054
NCBI chr 6:48,529,633...48,555,775
Ensembl chr 6:48,529,372...48,555,787
G
Hfe
homeostatic iron regulator
ISO
DNA:missense mutation: :p.C282Y (rs1800562) (human)
RGD
PMID:30651232
RGD:14746965
NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502
G
Hibch
3-hydroxyisobutyryl-CoA hydrolase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18784066
NCBI chr 9:48,590,097...48,669,896
Ensembl chr 9:48,590,099...48,669,824
G
Hif1a
hypoxia inducible factor 1 subunit alpha
ISO
protein:increased expression:layer of synovial tissue, stromal cell
RGD
PMID:12823854 PMID:18789153
RGD:10395366 , RGD:10402406
NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261
G
Hmgb1
high mobility group box 1
ISO
RGD
PMID:22330250
RGD:10401949
NCBI chr12:5,972,950...5,979,658
Ensembl chr12:5,901,586...5,978,565 Ensembl chr16:5,901,586...5,978,565
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Idh2
isocitrate dehydrogenase (NADP(+)) 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18784066
NCBI chr 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025
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Idh3a
isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18784066
NCBI chr 8:54,971,694...54,991,085
Ensembl chr 8:54,971,740...54,991,084
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Ifna1
interferon, alpha 1
treatment
IEP
RGD
PMID:30456844
RGD:36174218
NCBI chr 5:103,097,356...103,097,925
Ensembl chr 5:103,097,356...103,097,925
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Igf1
insulin-like growth factor 1
ISO
protein:decreased expression:blood:
RGD
PMID:2290165
RGD:10045857
NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
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Igf1r
insulin-like growth factor 1 receptor
severity
ISO
mRNA:increased expression:articular cartilage of joint:
RGD
PMID:8609369
RGD:10045889
NCBI chr 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777
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Igf2
insulin-like growth factor 2
ISO
mRNA:increased expression:cartilage
RGD
PMID:22527881
RGD:10402552
NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018
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Igfbp3
insulin-like growth factor binding protein 3
ISO
RGD
PMID:18775662
RGD:10402575
NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083
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Ihh
Indian hedgehog signaling molecule
ISO IEP
protein:increased expression:cartilage
RGD
PMID:24786088 PMID:24786088
RGD:12910979 , RGD:12910979
NCBI chr 9:76,504,315...76,510,532
Ensembl chr 9:76,504,315...76,510,532
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Il1a
interleukin 1 alpha
ISO
protein:increased expression:chonodrocyte:
RGD
PMID:9497936
RGD:10047053
NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
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Il1b
interleukin 1 beta
treatment
IEP ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:21954917 PMID:22890185
RGD:7207218
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Il4r
interleukin 4 receptor
ISO
protein:increased expression:serum
RGD
PMID:16647277
RGD:10402785
NCBI chr 1:180,115,061...180,139,981
Ensembl chr 1:180,115,120...180,139,980
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Il5
interleukin 5
ISO
RGD
PMID:22035391
RGD:5687147
NCBI chr10:37,874,342...37,877,213
Ensembl chr10:37,874,342...37,877,213
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Immt
inner membrane mitochondrial protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18784066
NCBI chr 4:103,880,482...103,919,116
Ensembl chr 4:103,880,459...103,919,109
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Ins2
insulin 2
ISO
protein:increased expression:blood:
RGD
PMID:2290165
RGD:10045857
NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775
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Isoc2b
isochorismatase domain containing 2b
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18784066
NCBI chr 1:68,972,960...68,993,760
Ensembl chr 1:68,972,960...68,993,757
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Jag1
jagged canonical Notch ligand 1
ISO
RGD
PMID:18354251
RGD:6482239
NCBI chr 3:124,406,783...124,442,220
Ensembl chr 3:124,406,794...124,442,209
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Lep
leptin
severity
ISO
protein:increased expression:tibia, cartilage, chondrocyte (human)
RGD
PMID:14613274
RGD:10053634
NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262
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Lgals3
galectin 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34894372
NCBI chr15:20,620,083...20,632,019
Ensembl chr15:20,607,692...20,632,025
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Ltbp3
latent transforming growth factor beta binding protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11790802 PMID:12379497
NCBI chr 1:203,029,412...203,045,975
Ensembl chr 1:203,029,877...203,045,975
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Matn3
matrilin 3
ISO ISS
ClinVar Annotator: match by term: Osteoarthritis susceptibility 2 CTD Direct Evidence: marker/mechanism
ClinVar OMIM MouseDO CTD
PMID:12736871 PMID:14729835 PMID:25741868 PMID:28492532
NCBI chr 6:31,748,517...31,768,564
Ensembl chr 6:31,748,474...31,768,101
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Mir146a
microRNA 146a
ISO
mRNA:decreased expression:cartilage tissue (human)
RGD
PMID:31472145
RGD:152177908
NCBI chr10:27,848,516...27,848,610
Ensembl chr10:27,848,516...27,848,610
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Mir34a
microRNA 34a
treatment
ISO IMP
mRNA:increased expression:knee, hip (human)
RGD
PMID:30048987 PMID:30048987
RGD:152177909 , RGD:152177909
NCBI chr 5:160,533,002...160,533,103
Ensembl chr 5:160,533,002...160,533,103
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Mmp1
matrix metallopeptidase 1
ISO
protein:increased expression:plasma (human)
RGD
PMID:9972954
RGD:7207129
NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
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Mmp13
matrix metallopeptidase 13
treatment
ISO IEP
mRNA, protein:increased expression:cartilage
RGD
PMID:16128596 PMID:11134178 PMID:17530714 PMID:23982761 PMID:22890185
RGD:7207089 , RGD:10043117 , RGD:2300093 , RGD:10043101 , RGD:7207218
NCBI chr 8:4,497,960...4,508,239
Ensembl chr 8:4,497,960...4,508,239
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Mmp2
matrix metallopeptidase 2
ISO
protein:increased expression:synovial fluid (human)
RGD
PMID:15194590
RGD:7207131
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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Mmp3
matrix metallopeptidase 3
ISO
protein:increased expression:synovial fluid (human)
RGD
PMID:16128596 PMID:15194590
RGD:7207089 , RGD:7207131
NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961
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Mmp8
matrix metallopeptidase 8
ISO
protein:increased expression:synovial fluid, serum (human)
RGD
PMID:15194590
RGD:7207131
NCBI chr 8:4,724,009...4,733,864
Ensembl chr 8:4,724,029...4,733,520
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Mmp9
matrix metallopeptidase 9
ISO
protein:increased expression:synovial fluid, serum (human)
RGD
PMID:15194590
RGD:7207131
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Msn
moesin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18784066
NCBI chr X:60,996,043...61,064,011
Ensembl chr X:60,995,951...61,065,628
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Mtor
mechanistic target of rapamycin kinase
treatment
ISO
RGD
PMID:24651621 PMID:22084394
RGD:10003163 , RGD:10003165
NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311
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Mvp
major vault protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18784066
NCBI chr 1:181,594,734...181,622,336
Ensembl chr 1:181,594,734...181,622,380
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Myh13
myosin heavy chain 13
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18784066
NCBI chr10:52,012,779...52,068,960
Ensembl chr10:52,009,425...52,068,951
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Myl3
myosin light chain 3
ISS
MouseDO
NCBI chr 8:110,738,669...110,744,814
Ensembl chr 8:110,738,661...110,744,816
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Napepld
N-acyl phosphatidylethanolamine phospholipase D
IEP
protein:increased expression:spinal cord
RGD
PMID:20722027
RGD:10412653
NCBI chr 4:13,360,532...13,398,815
Ensembl chr 4:13,361,006...13,398,748
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Ncor2
nuclear receptor co-repressor 2
susceptibility
ISO
RGD
PMID:15334463
RGD:1625347
NCBI chr12:31,466,418...31,628,319
Ensembl chr12:31,466,412...31,628,319
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Ndufs8
NADH:ubiquinone oxidoreductase core subunit S8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18784066
NCBI chr 1:201,140,585...201,144,573
Ensembl chr 1:201,140,585...201,144,511
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Ndufv1
NADH:ubiquinone oxidoreductase core subunit V1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18784066
NCBI chr 1:201,300,365...201,305,461
Ensembl chr 1:201,299,985...201,305,466
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Nfatc1
nuclear factor of activated T-cells 1
treatment
IEP
RGD
PMID:34738623
RGD:329328930
NCBI chr18:74,046,422...74,156,041
Ensembl chr18:74,046,904...74,156,028
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Ngf
nerve growth factor
treatment
IMP
RGD
PMID:33806315 PMID:25677108
RGD:402463969 , RGD:402463970
NCBI chr 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452
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Nme2
NME/NM23 nucleoside diphosphate kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18784066
NCBI chr10:78,898,097...78,903,514
Ensembl chr10:78,897,770...78,903,538
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Opa1
OPA1, mitochondrial dynamin like GTPase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18784066
NCBI chr11:71,108,100...71,185,170
Ensembl chr11:71,109,873...71,185,109
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P3h3
prolyl 3-hydroxylase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18784066
NCBI chr 4:157,646,242...157,662,035
Ensembl chr 4:157,646,243...157,662,035
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Pdcd6ip
programmed cell death 6 interacting protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18784066
NCBI chr 8:113,590,998...113,646,795
Ensembl chr 8:113,590,998...113,646,773
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Pdha1
pyruvate dehydrogenase E1 subunit alpha 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18784066
NCBI chr X:34,700,481...34,714,309
Ensembl chr X:34,700,409...34,714,311
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Pecam1
platelet and endothelial cell adhesion molecule 1
IEP
mRNA:increased expression:tibia (rat)
RGD
PMID:21864409
RGD:6771362
NCBI chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116
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Pik3r1
phosphoinositide-3-kinase regulatory subunit 1
ISO
mRNA:increased expression:cartilage tissue (human)
RGD
PMID:31472145
RGD:152177908
NCBI chr 2:32,878,942...32,963,668
Ensembl chr 2:32,882,032...32,963,631
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Plcd1
phospholipase C, delta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18784066
NCBI chr 8:118,795,196...118,818,186
Ensembl chr 8:118,795,201...118,818,186
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Plod2
procollagen lysine, 2-oxoglutarate 5-dioxygenase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18784066
NCBI chr 8:93,084,548...93,167,255
Ensembl chr 8:93,084,513...93,167,255
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Pls3
plastin 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18784066
NCBI chr X:111,589,193...111,683,908
Ensembl chr X:111,589,254...111,683,891
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Pomc
proopiomelanocortin
ISO
RGD
PMID:21378032
RGD:5508809
NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664
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Pou3f3
POU class 3 homeobox 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17568789
NCBI chr 9:44,945,872...44,948,998
Ensembl chr 9:44,945,872...44,948,992
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Pparg
peroxisome proliferator-activated receptor gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17568789
NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468
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Ppp2r1a
protein phosphatase 2 scaffold subunit A alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18784066
NCBI chr 1:60,540,223...60,559,467
Ensembl chr 1:60,540,194...60,560,129
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Psmb1
proteasome 20S subunit beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18784066
NCBI chr 1:56,442,432...56,463,544
Ensembl chr 1:56,420,618...56,463,560
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Ptgs2
prostaglandin-endoperoxide synthase 2
susceptibility
ISO
DNA:SNP (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:32004530 PMID:15334463
RGD:1625347
NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
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Ran
RAN, member RAS oncogene family
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18784066
NCBI chr12:27,674,049...27,678,598
Ensembl chr12:27,674,050...27,678,276
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Rcn3
reticulocalbin 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18784066
NCBI chr 1:95,564,503...95,573,762
Ensembl chr 1:95,564,380...95,573,725
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Runx2
RUNX family transcription factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20008919
NCBI chr 9:16,167,504...16,492,826
Ensembl chr 9:16,167,482...16,492,167
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S100a4
S100 calcium-binding protein A4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16948116
NCBI chr 2:176,090,951...176,093,258
Ensembl chr 2:176,091,804...176,093,254
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Scrn1
secernin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18784066
NCBI chr 4:83,632,125...83,694,225
Ensembl chr 4:83,632,131...83,693,852
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Sdcbp
syndecan binding protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18784066
NCBI chr 5:19,473,499...19,517,188
Ensembl chr 5:19,489,961...19,527,572
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Sdha
succinate dehydrogenase complex flavoprotein subunit A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18784066
NCBI chr 1:28,935,965...28,960,936
Ensembl chr 1:28,940,164...28,961,535
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Sec23a
Sec23 homolog A, COPII coat complex component
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18784066
NCBI chr 6:76,658,793...76,706,125
Ensembl chr 6:76,658,427...76,706,035
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Serpina1
serpin family A member 1
IEP
RGD
PMID:20434574
RGD:2324964
NCBI chr 6:122,866,314...122,888,339
Ensembl chr 6:122,866,312...122,888,339
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Sgcg
sarcoglycan, gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17568789
NCBI chr15:35,388,836...35,435,072
Ensembl chr15:35,386,534...35,435,148
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Slc2a1
solute carrier family 2 member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18973239
NCBI chr 5:132,717,196...132,745,416
Ensembl chr 5:132,717,196...132,745,416
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Smad3
SMAD family member 3
ISO ISS
CTD Direct Evidence: marker/mechanism
CTD MouseDO
PMID:21217753 PMID:22772368
NCBI chr 8:64,126,829...64,236,960
Ensembl chr 8:64,110,039...64,236,960
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Sod2
superoxide dismutase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15292528 PMID:18784066 PMID:22108257
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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Tent5a
terminal nucleotidyltransferase 5A
susceptibility
ISO
DNA:repeats: :
RGD
PMID:25231575
RGD:14390133
NCBI chr 8:86,222,294...86,229,045
Ensembl chr 8:86,225,357...86,229,045
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Tfpi2
tissue factor pathway inhibitor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15292528
NCBI chr 4:31,981,786...31,986,707
Ensembl chr 4:31,982,178...31,986,600
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Tgfb1
transforming growth factor, beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30664745
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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Tgfbr1
transforming growth factor, beta receptor 1
ISS
OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:612400
MouseDO
NCBI chr 5:61,653,773...61,710,777
Ensembl chr 5:61,653,233...61,710,777
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Tgm2
transglutaminase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18784066
NCBI chr 3:146,772,684...146,801,924
Ensembl chr 3:146,772,687...146,801,981
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Tlr8
toll-like receptor 8
ISO
ClinVar Annotator: match by term: Osteoarthritis
ClinVar
NCBI chr X:27,091,780...27,116,092
Ensembl chr X:27,091,778...27,116,549
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Tnfrsf10b
TNF receptor superfamily member 10b
IEP
RGD
PMID:14872496
RGD:2290500
NCBI chr15:44,840,386...44,868,318
Ensembl chr15:44,840,386...44,867,467
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Tnfrsf11b
TNF receptor superfamily member 11B
disease_progression
ISO
RGD
PMID:15334463
RGD:1625347
NCBI chr 7:85,566,520...85,594,526
Ensembl chr 7:85,566,520...85,594,538
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Tnfsf10
TNF superfamily member 10
IEP
RGD
PMID:14872496
RGD:2290500
NCBI chr 2:110,199,835...110,227,239
Ensembl chr 2:110,207,916...110,225,135
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Tnfsf15
TNF superfamily member 15
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30664745
NCBI chr 5:77,134,885...77,156,171
Ensembl chr 5:77,139,878...77,156,228
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Trap1
TNF receptor-associated protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18784066
NCBI chr10:11,464,882...11,498,931
Ensembl chr10:11,464,821...11,498,981
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Trim2
tripartite motif-containing 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17568789
NCBI chr 2:169,500,628...169,652,855
Ensembl chr 2:169,500,634...169,652,927
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Trpv4
transient receptor potential cation channel, subfamily V, member 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21964574
NCBI chr12:41,938,533...41,977,517
Ensembl chr12:41,938,560...41,977,517
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Txnrd1
thioredoxin reductase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18784066
NCBI chr 7:20,830,042...20,914,990
Ensembl chr 7:20,830,045...20,907,863
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Vdac2
voltage-dependent anion channel 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18784066
NCBI chr15:2,462,877...2,476,802
Ensembl chr15:2,463,056...2,476,553
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Vim
vimentin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16876394 PMID:18784066
NCBI chr17:76,668,701...76,677,186
Ensembl chr17:76,668,647...76,677,187
G
Ywhaq
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18784066
NCBI chr 6:40,935,714...40,966,240
Ensembl chr 6:40,935,949...40,966,273
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Col2a1
collagen type II alpha 1 chain
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Namaqualand hip dysplasia | ClinVar Annotator: match by term: Osteoarthritis with mild chondrodysplasia
OMIM CTD ClinVar
PMID:1905723 PMID:1975693 PMID:1985108 PMID:7695699 PMID:7757086 PMID:7977371 PMID:8218237 PMID:8423604 PMID:8507190 PMID:8702139 PMID:8893763 PMID:9016532 PMID:9711874 PMID:10372559 PMID:15895462 PMID:16155195 PMID:17078022 PMID:17347327 PMID:18272325 PMID:18276201 PMID:19344236 PMID:25504618 PMID:25592122 PMID:25604898 PMID:25741868 PMID:25741869 PMID:26037341 PMID:26443184 PMID:26467025 PMID:26626311 PMID:28492532 PMID:34008892 More...
NCBI chr 7:129,098,489...129,127,560
Ensembl chr 7:129,098,786...129,127,546
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Becn1
beclin 1
treatment
IEP
RGD
PMID:23589102
RGD:11561955
NCBI chr10:86,231,387...86,246,742
Ensembl chr10:86,231,388...86,246,742
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Bmp4
bone morphogenetic protein 4
ISO
RGD
PMID:19404941
RGD:9068434
NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306
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Casp3
caspase 3
treatment
IEP
RGD
PMID:29621761
RGD:13782275
NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648
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Casp6
caspase 6
treatment
IEP
RGD
PMID:29621761
RGD:13782275
NCBI chr 2:218,466,063...218,478,503
Ensembl chr 2:218,466,076...218,478,502
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Casp7
caspase 7
treatment
IEP
RGD
PMID:29621761
RGD:13782275
NCBI chr 1:255,437,438...255,476,737
Ensembl chr 1:255,437,172...255,476,729
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Casp8
caspase 8
treatment
IEP
RGD
PMID:29621761
RGD:13782275
NCBI chr 9:60,263,863...60,312,542
Ensembl chr 9:60,264,075...60,312,542
G
Col1a1
collagen type I alpha 1 chain
treatment
IEP
RGD
PMID:25128628
RGD:11041187
NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
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Ddr2
discoidin domain receptor tyrosine kinase 2
treatment
IEP
RGD
PMID:25975052
RGD:150429975
NCBI chr13:82,193,623...82,318,229
Ensembl chr13:82,195,463...82,317,363
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Fgfr1
Fibroblast growth factor receptor 1
ISO
RGD
PMID:22833219
RGD:10402072
NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350
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Flt1
Fms related receptor tyrosine kinase 1
ISO
RGD
PMID:23041435
RGD:10402106
NCBI chr12:7,296,899...7,468,626
Ensembl chr12:7,297,292...7,468,626
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Hspa1a
heat shock protein family A (Hsp70) member 1A
treatment
IMP
RGD
PMID:16394269
RGD:10402538
NCBI chr20:3,870,765...3,873,221
Ensembl chr20:3,856,006...3,873,227
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Lrpap1
LDL receptor related protein associated protein 1
IEP
mRNA:decreased expression:knee
RGD
PMID:24754147
RGD:10412054
NCBI chr14:75,651,371...75,663,380
Ensembl chr14:75,651,376...75,665,414
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Map1lc3a
microtubule-associated protein 1 light chain 3 alpha
treatment
IEP
RGD
PMID:23589102
RGD:11561955
NCBI chr 3:143,783,024...143,784,670
Ensembl chr 3:143,783,024...143,784,670
G
Mapk3
mitogen activated protein kinase 3
IEP
RGD
PMID:29364174
RGD:13800565
NCBI chr 1:181,366,646...181,372,863
Ensembl chr 1:181,366,637...181,372,863
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Ncam1
neural cell adhesion molecule 1
IEP
protein:decreased expression:skeletal joint
RGD
PMID:31742919
RGD:40924673
NCBI chr 8:49,865,629...50,165,687
Ensembl chr 8:49,865,633...50,166,014
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Serpinf1
serpin family F member 1
severity
ISO
RGD
PMID:28122611
RGD:27226703
NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646
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Ulk1
unc-51 like autophagy activating kinase 1
treatment
IEP
RGD
PMID:23589102
RGD:11561955
NCBI chr12:45,851,710...45,877,966
Ensembl chr12:45,851,710...45,877,966
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Adamts5
ADAM metallopeptidase with thrombospondin type 1 motif, 5
IEP
mRNA:increased expression:cartilage
RGD
PMID:22670655
RGD:10043109
NCBI chr11:25,000,627...25,047,205
Ensembl chr11:25,000,637...25,047,205
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Aspn
asporin
ISO
mRNA:increased expression:cartilage:
RGD
PMID:15640800
RGD:9684965
NCBI chr17:15,079,910...15,104,369
Ensembl chr17:15,080,639...15,104,041
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Astn2
astrotactin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30374069
NCBI chr 5:78,758,142...79,744,021
Ensembl chr 5:78,758,142...79,748,273
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Chadl
chondroadherin-like
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28319091 PMID:30374069
NCBI chr 7:113,205,323...113,218,678
Ensembl chr 7:113,210,748...113,217,272
G
Col10a1
collagen type X alpha 1 chain
IEP
mRNA, protein:increased expression:cartilage
RGD
PMID:22670655
RGD:10043109
NCBI chr20:38,183,103...38,189,488
Ensembl chr20:38,182,494...38,189,494
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Col11a1
collagen type XI alpha 1 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30374069
NCBI chr 2:201,820,715...202,013,853
Ensembl chr 2:201,820,715...202,013,853
G
Col1a1
collagen type I alpha 1 chain
no_association susceptibility
ISO
DNA:SNP:intron:g.2046G>T (human)
RGD
PMID:17187661 PMID:9811048 PMID:15880349
RGD:5688305 , RGD:5688330 , RGD:5688306
NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
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Comp
cartilage oligomeric matrix protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28319091
NCBI chr16:19,047,206...19,055,584
Ensembl chr16:19,047,207...19,055,845
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Crhr1
corticotropin releasing hormone receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30664745
NCBI chr10:89,040,186...89,083,481
Ensembl chr10:89,040,203...89,083,481
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Diablo
diablo, IAP-binding mitochondrial protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30664745
NCBI chr12:33,055,784...33,070,401
Ensembl chr12:33,055,263...33,070,387
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Esr1
estrogen receptor 1
ISO
DNA:SNP:intron:g.-397T>C (human)
RGD
PMID:17419075
RGD:10045661
NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002
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Filip1
filamin A interacting protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30374069
NCBI chr 8:80,761,283...80,956,556
Ensembl chr 8:80,764,604...80,922,549
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Frzb
frizzled-related protein
ISO
ClinVar Annotator: match by term: OSTEOARTHRITIS OF HIP, FEMALE-SPECIFIC, SUSCEPTIBILITY TO
ClinVar
PMID:15210948 PMID:25741868
NCBI chr 3:65,332,274...65,365,208
Ensembl chr 3:65,332,277...65,365,208
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Ghr
growth hormone receptor
ISO
associated with Acromegaly;DNA:deletion:exon:
RGD
PMID:19864451
RGD:10003142
NCBI chr 2:52,541,452...52,804,960
Ensembl chr 2:52,542,594...52,804,735
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Hdac9
histone deacetylase 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30374069
NCBI chr 6:50,762,074...51,624,311
Ensembl chr 6:50,763,590...51,625,333
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Hfe
homeostatic iron regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30374069
NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502
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Il11
interleukin 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30374069 PMID:30664745
NCBI chr 1:69,069,829...69,076,129
Ensembl chr 1:69,068,137...69,076,129
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Il4r
interleukin 4 receptor
susceptibility no_association
ISO
DNA:SNPs:multiple DNA:missense mutations:cds:p.S411L, p.S727A (rs1805013, rs1805016) (human)
RGD
PMID:14745651 PMID:19036616
RGD:10402782 , RGD:10402784
NCBI chr 1:180,115,061...180,139,981
Ensembl chr 1:180,115,120...180,139,980
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Itih1
inter-alpha trypsin inhibitor, heavy chain 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30374069
NCBI chr16:6,122,246...6,136,363
Ensembl chr16:6,122,248...6,136,363
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Lmx1b
LIM homeobox transcription factor 1 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30374069
NCBI chr 3:16,862,195...16,940,899
Ensembl chr 3:16,862,195...16,940,899
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Ltbp3
latent transforming growth factor beta binding protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30374069
NCBI chr 1:203,029,412...203,045,975
Ensembl chr 1:203,029,877...203,045,975
G
Mapt
microtubule-associated protein tau
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30664745
NCBI chr10:89,138,644...89,236,137
Ensembl chr10:89,138,627...89,236,129
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Mmp13
matrix metallopeptidase 13
IEP
mRNA, protein:increased expression:cartilage
RGD
PMID:22670655
RGD:10043109
NCBI chr 8:4,497,960...4,508,239
Ensembl chr 8:4,497,960...4,508,239
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Runx2
RUNX family transcription factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30374069
NCBI chr 9:16,167,504...16,492,826
Ensembl chr 9:16,167,482...16,492,167
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Smad3
SMAD family member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30374069
NCBI chr 8:64,126,829...64,236,960
Ensembl chr 8:64,110,039...64,236,960
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Smo
smoothened, frizzled class receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30374069
NCBI chr 4:58,343,626...58,373,823
Ensembl chr 4:58,343,529...58,373,829
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Tnc
tenascin C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30374069
NCBI chr 5:77,375,851...77,460,712
Ensembl chr 5:77,375,851...77,460,624
G
Otulin
OTU deubiquitinase with linear linkage specificity
susceptibility
ISO
ClinVar Annotator: match by term: Autoinflammation, panniculitis, and dermatosis syndrome | ClinVar Annotator: match by term: OTULIPENIA
ClinVar OMIM
PMID:25741868 PMID:27523608 PMID:27559085 PMID:28492532 PMID:30796585 PMID:30804083 PMID:35170849 PMID:35587511 More...
NCBI chr 2:78,290,437...78,316,633
Ensembl chr 2:78,290,959...78,316,422
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Crh
corticotropin releasing hormone
no_association
ISO
DNA:polymorphism:promoter
RGD
PMID:12051390
RGD:1581301
NCBI chr 2:102,143,055...102,144,919
Ensembl chr 2:102,143,055...102,144,919
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Crp
C-reactive protein
treatment
ISO
RGD
PMID:2859021
RGD:9495925
NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
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Hfe
homeostatic iron regulator
ISO
DNA:missense mutation: :p.C282Y (rs1800562) (human)
RGD
PMID:30657865
RGD:14746966
NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502
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Mbl2
mannose binding lectin 2
ISO
DNA:polymorphism:cds:
RGD
PMID:12375325
RGD:8693752
NCBI chr 1:228,016,439...228,024,736
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Mmp3
matrix metallopeptidase 3
ISO
RGD
PMID:11796404
RGD:7241254
NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961
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Pecam1
platelet and endothelial cell adhesion molecule 1
ISO
protein:increased expression:plasma, endothelial microparticle (human)
RGD
PMID:22211720
RGD:6771319
NCBI chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116
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Lbr
lamin B receptor
ISO
ClinVar Annotator: match by term: PRIMARY BILIARY CIRRHOSIS, SCLERODERMA, RAYNAUD DISEASE, AND TELANGIECTASIA | ClinVar Annotator: match by term: Reynolds syndrome
OMIM ClinVar
PMID:18382993 PMID:20522425 PMID:24033266 PMID:25348816 PMID:25741868 PMID:26467025 PMID:28492532 PMID:32827848 More...
NCBI chr13:93,539,386...93,564,026
Ensembl chr13:93,538,920...93,564,017
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Gc
GC, vitamin D binding protein
ISO
RGD
PMID:2737695
RGD:5509933
NCBI chr14:18,632,146...18,667,563
Ensembl chr14:18,632,135...18,667,567
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Icam1
intercellular adhesion molecule 1
ISO
protein:increased expression:serum
RGD
PMID:14567831
RGD:13702910
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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RT1-Ba
RT1 class II, locus Ba
susceptibility
ISO
DNA:polymorphisms, haplotypes:multiple DNA:polymorphism: :HLA-DQA1*03 (human)
RGD
PMID:17559688 PMID:15789899
RGD:5147792 , RGD:127285392
NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
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RT1-Bb
RT1 class II, locus Bb
ISO
DNA:polymorphisms, haplotypes:multiple
RGD
PMID:17559688
RGD:5147792
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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RT1-Db1
RT1 class II, locus Db1
ISO
DNA:polymorphisms, haplotypes:multiple
RGD
PMID:17559688
RGD:5147792
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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Acta2
actin alpha 2, smooth muscle
IEP
mRNA, protein:increases expression:mitral valve, heart (rat)
RGD
PMID:33179113
RGD:155882558
NCBI chr 1:231,746,527...231,759,307
Ensembl chr 1:231,746,548...231,759,554
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Bax
BCL2 associated X, apoptosis regulator
IEP
mRNA:increases expression:mitral valve, heart (rat)
RGD
PMID:33179113
RGD:155882558
NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368
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Cd209d
CD209d molecule
ISO
protein:increased expression:left cardiac atrium, dendritic cell (human)
RGD
PMID:30261069
RGD:41410815
NCBI chr12:1,891,109...1,897,559
Ensembl chr12:1,891,113...1,901,171
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Cd36
CD36 molecule
ISO
mRNA:decreased expression:blood, mononuclear cell
RGD
PMID:16741676
RGD:6893529
NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903
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Col1a1
collagen type I alpha 1 chain
IEP
mRNA, protein:increases expression:mitral valve, heart (rat)
RGD
PMID:33179113
RGD:155882558
NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
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Col3a1
collagen type III alpha 1 chain
IEP
mRNA:increases expression:mitral valve, heart (rat)
RGD
PMID:33179113
RGD:155882558
NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547
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Gapdh
glyceraldehyde-3-phosphate dehydrogenase
IEP
RGD
PMID:26823728
RGD:13792679
NCBI chr 4:157,962,312...157,967,158
Ensembl chr 4:157,962,343...157,966,235
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Igf1
insulin-like growth factor 1
ISO
RGD
PMID:16406300
RGD:1582623
NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
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Il10
interleukin 10
no_association
ISO
RGD
PMID:16043936
RGD:1598626
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Inhba
inhibin subunit beta A
IEP
mRNA, protein:increases expression:mitral valve, heart (rat)
RGD
PMID:33179113
RGD:155882558
NCBI chr17:49,091,635...49,111,573
Ensembl chr17:49,095,920...49,108,982
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Lef1
lymphoid enhancer binding factor 1
IEP
mRNA, protein:increases expression:mitral valve, heart (rat)
RGD
PMID:33179113
RGD:155882558
NCBI chr 2:219,666,549...219,779,815
Ensembl chr 2:219,666,592...219,779,794
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Mir155
microRNA 155
IMP
RGD
PMID:31894293
RGD:151347417
NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
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Mmp9
matrix metallopeptidase 9
ISO
RGD
PMID:16406300
RGD:1582623
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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RT1-Ba
RT1 class II, locus Ba
susceptibility
ISO
DNA:polymorphisms, haplotypes:multiple DNA:polymorphism, haplotype: :HLA-DQA1*0101, HLA-DQA1*0103, HLA-DQA1*0301 (human)
RGD
PMID:17559688 PMID:29029143
RGD:5147792 , RGD:126925989
NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
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RT1-Bb
RT1 class II, locus Bb
ISO
DNA:polymorphisms:cds:HLA-DQB1*08 (human)
RGD
PMID:17578051
RGD:5147630
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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RT1-Db1
RT1 class II, locus Db1
susceptibility
ISO
DNA:polymorphism (human) DNA:polymorphism:cds:HLA-DRB1*13 (human)
RGD
PMID:17578051 PMID:16426242
RGD:5147630 , RGD:5147643
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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Snai1
snail family transcriptional repressor 1
IEP
mRNA, protein:increases expression:mitral valve, heart (rat)
RGD
PMID:33179113
RGD:155882558
NCBI chr 3:156,248,479...156,252,969
Ensembl chr 3:156,248,485...156,252,969
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Socs1
suppressor of cytokine signaling 1
treatment
IEP
RGD
PMID:31894293
RGD:151347417
NCBI chr10:4,882,651...4,884,342
Ensembl chr10:4,882,560...4,884,383
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Twist1
twist family bHLH transcription factor 1
IEP
mRNA, protein:increases expression:mitral valve, heart (rat)
RGD
PMID:33179113
RGD:155882558
NCBI chr 6:50,674,910...50,676,904
Ensembl chr 6:50,674,678...50,677,653
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Zeb1
zinc finger E-box binding homeobox 1
IEP
mRNA, protein:increases expression:mitral valve, heart (rat)
RGD
PMID:33179113
RGD:155882558
NCBI chr17:51,948,948...52,116,018
Ensembl chr17:51,948,948...52,115,214
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Zeb2
zinc finger E-box binding homeobox 2
IEP
mRNA, protein:increases expression:mitral valve, heart (rat)
RGD
PMID:33179113
RGD:155882558
NCBI chr 3:29,214,581...29,344,890
Ensembl chr 3:29,218,301...29,345,157
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Gsn
gelsolin
ISO
protein:decreased expression:blood plasma (human)
RGD
PMID:25403731
RGD:329333026
NCBI chr 3:18,585,166...18,638,404
Ensembl chr 3:18,585,172...18,638,402
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Icam1
intercellular adhesion molecule 1
severity
ISO
protein:increased expression:serum
RGD
PMID:22987107
RGD:13702907
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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Sele
selectin E
severity
ISO
protein:increased expression:serum
RGD
PMID:22987107
RGD:13702907
NCBI chr13:76,402,841...76,412,741
Ensembl chr13:76,403,304...76,412,741
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Vcam1
vascular cell adhesion molecule 1
severity
ISO
protein:increased expression:serum
RGD
PMID:22987107
RGD:13702907
NCBI chr 2:204,038,120...204,057,852
Ensembl chr 2:204,038,114...204,057,958
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A2m
alpha-2-macroglobulin
ISO
GAD
PMID:15118671
RGD:1331525
NCBI chr 4:154,897,770...154,947,787
Ensembl chr 4:154,897,877...154,947,786
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Abcb1a
ATP binding cassette subfamily B member 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20080907 PMID:22104130
NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709
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Abcc2
ATP binding cassette subfamily C member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23897011
NCBI chr 1:242,664,657...242,723,239
Ensembl chr 1:242,664,657...242,723,238
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Abcc3
ATP binding cassette subfamily C member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23897011
NCBI chr10:79,296,681...79,342,749
Ensembl chr10:79,296,693...79,342,595
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Abcc4
ATP binding cassette subfamily C member 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23897011
NCBI chr15:95,541,186...95,774,898
Ensembl chr15:95,542,315...95,774,283
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Abcc5
ATP binding cassette subfamily C member 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23897011
NCBI chr11:80,473,809...80,567,257
Ensembl chr11:80,473,872...80,567,253
G
Abcg2
ATP binding cassette subfamily G member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23897011
NCBI chr 4:87,676,241...87,802,757
Ensembl chr 4:87,745,319...87,802,409
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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 1:132,981,582...133,044,416
Ensembl chr 1:132,981,582...133,043,627
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Ackr3
atypical chemokine receptor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19192274
NCBI chr 9:90,799,682...90,811,246
Ensembl chr 9:90,799,686...90,811,237
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Adamts4
ADAM metallopeptidase with thrombospondin type 1 motif, 4
ISO
mRNA:increased expression:synovium
RGD
PMID:11801682
RGD:10043106
NCBI chr13:83,670,556...83,680,045
Ensembl chr13:83,670,183...83,680,065
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Adamts5
ADAM metallopeptidase with thrombospondin type 1 motif, 5
ISO
protein:alternative form:synovium
RGD
PMID:11801682
RGD:10043106
NCBI chr11:25,000,627...25,047,205
Ensembl chr11:25,000,637...25,047,205
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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 chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
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Adora2a
adenosine A2a receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19192274
NCBI chr20:13,315,848...13,333,386
Ensembl chr20:13,315,853...13,333,386
G
Adrb3
adrenoceptor beta 3
ISO
DNA:missense mutation:cds:p.W64R rs4994 (human)
RGD
PMID:12739037
RGD:5684893
NCBI chr16:64,839,820...64,844,552
Ensembl chr16:64,841,788...64,844,552
G
Aff3
ALF transcription elongation factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20453842 PMID:23143596
NCBI chr 9:40,399,099...40,856,716
Ensembl chr 9:40,404,375...40,857,247
G
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 chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
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Ahr
aryl hydrocarbon receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18617548
NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568
G
Alox5
arachidonate 5-lipoxygenase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12833524
NCBI chr 4:149,531,329...149,578,696
Ensembl chr 4:149,531,515...149,578,743
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Ang
angiogenin
ISO
RGD
PMID:12653852
RGD:6892721
NCBI chr15:24,312,711...24,323,361
G
Ankrd55
ankyrin repeat domain 55
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143596
NCBI chr 2:43,883,877...43,983,820
Ensembl chr 2:43,883,857...43,983,680
G
Anxa3
annexin A3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22446963
NCBI chr14:12,727,708...12,781,717
Ensembl chr14:12,719,795...12,781,617
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Apoa4
apolipoprotein A4
ISO
protein:increased expression:blood serum (human)
RGD
PMID:20367977
RGD:5685646
NCBI chr 8:46,539,083...46,541,464
Ensembl chr 8:46,539,082...46,541,469
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Arid5b
AT-rich interaction domain 5B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22446963 PMID:23143596
NCBI chr20:20,307,731...20,490,746
Ensembl chr20:20,307,731...20,487,433
G
Atic
5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19193698
NCBI chr 9:73,164,846...73,184,897
Ensembl chr 9:73,164,846...73,184,889
G
Azgp1
alpha-2-glycoprotein 1, zinc-binding
IEP
mRNA:decreased expression:liver
RGD
PMID:18372237
RGD:153352318
NCBI chr12:16,930,990...16,939,333
Ensembl chr12:16,931,024...16,939,091
G
B3gnt2
UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22446963
NCBI chr14:96,808,473...96,833,674
Ensembl chr14:96,806,664...96,835,273
G
B3gnt9
UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17379860
NCBI chr19:33,129,740...33,134,048
Ensembl chr19:33,128,142...33,132,344
G
Baiap2l1
BAR/IMD domain containing adaptor protein 2 like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17568789
NCBI chr12:10,250,434...10,339,937
Ensembl chr12:10,250,473...10,339,928
G
Bcl2a1
BCL2-related protein A1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19192274
NCBI chr 8:89,716,914...89,724,998
Ensembl chr 8:89,716,914...89,724,998
G
Bdkrb2
bradykinin receptor B2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12833524
NCBI chr 6:124,472,317...124,502,497
Ensembl chr 6:124,472,566...124,502,497
G
Bglap
bone gamma-carboxyglutamate protein
ISO
protein:increased expression:serum
RGD
PMID:22447331 PMID:3488088
RGD:6483593 , RGD:6483600
NCBI chr 2:173,838,518...173,839,495
Ensembl chr 2:173,838,518...173,839,495
G
Bgn
biglycan
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15292528
NCBI chr X:151,197,296...151,209,458
Ensembl chr X:151,197,273...151,209,461
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Blk
BLK proto-oncogene, Src family tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20453842 PMID:23143596
NCBI chr15:37,626,746...37,665,053
Ensembl chr15:37,627,039...37,665,031
G
Bmp4
bone morphogenetic protein 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20008919
NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306
G
Bmp6
bone morphogenetic protein 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20008919
NCBI chr17:26,318,121...26,469,691
Ensembl chr17:26,318,569...26,470,365
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Btnl2
butyrophilin-like 2
susceptibility
ISO
DNA:SNPs: :
RGD
PMID:23364395
RGD:9685033
NCBI chr20:4,490,169...4,504,002
Ensembl chr20:4,489,517...4,503,341
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C3
complement C3
ISO
RGD
PMID:7561187
RGD:11040775
NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
G
C4b
complement C4B
ISO
RGD
PMID:22076784
RGD:5688263
NCBI chr20:4,197,371...4,211,684
Ensembl chr20:4,197,366...4,211,681
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Cald1
caldesmon 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15292528
NCBI chr 4:63,265,781...63,446,938
Ensembl chr 4:63,265,942...63,446,932
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Casp7
caspase 7
ISO
RGD
PMID:18785314
RGD:5684540
NCBI chr 1:255,437,438...255,476,737
Ensembl chr 1:255,437,172...255,476,729
G
Cast
calpastatin
ISO
RGD
PMID:7706496
RGD:5683620
NCBI chr 2:3,973,112...4,082,658
Ensembl chr 2:3,973,112...4,082,659
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Cat
catalase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22450443
NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
G
Cav2
caveolin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17379860
NCBI chr 4:45,616,766...45,624,144
Ensembl chr 4:45,616,712...45,624,244
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Ccl2
C-C motif chemokine ligand 2
ISO
protein:increased expression:serum
RGD
PMID:20056091
RGD:4891442
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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Ccl21
C-C motif chemokine ligand 21
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18794853 PMID:20453842 PMID:23143596
NCBI chr 5:56,980,557...56,981,661
Ensembl chr 5:56,980,558...56,981,686
G
Ccl22
C-C motif chemokine ligand 22
ISO
protein:increased expression:plasma:
RGD
PMID:19942450
RGD:10054497
NCBI chr19:10,257,602...10,264,373
Ensembl chr19:10,257,601...10,264,400
G
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 2:234,562,410...234,565,370
Ensembl chr 2:234,562,408...234,565,484
G
Ccn2
cellular communication network factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19192274
NCBI chr 1:20,802,199...20,805,315
Ensembl chr 1:20,802,199...20,805,734
G
Ccr1
C-C motif chemokine receptor 1
ISO
RGD
PMID:12860725
RGD:5688170
NCBI chr 8:123,556,286...123,561,841
G
Ccr3
C-C motif chemokine receptor 3
ISO
protein:increased expression:synovial fluid, neutrophil
RGD
PMID:19017998
RGD:4145632
NCBI chr 8:123,586,100...123,634,178
Ensembl chr 8:123,616,236...123,634,990
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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 8:114,176,291...114,182,033
Ensembl chr 8:114,176,974...114,178,056
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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 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
G
Ccr6
C-C motif chemokine receptor 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20453841 PMID:20453842 PMID:23143596
NCBI chr 1:52,474,477...52,508,301
Ensembl chr 1:52,474,168...52,498,603
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Cd2
Cd2 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143596
NCBI chr 2:188,710,895...188,724,044
Ensembl chr 2:188,710,900...188,724,026
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Cd244
CD244 molecule
susceptibility
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Rheumatoid arthritis
CTD OMIM ClinVar
PMID:18794858
NCBI chr13:84,051,339...84,082,864
Ensembl chr13:84,052,493...84,074,492
G
Cd28
Cd28 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19898481 PMID:20453842 PMID:23143596 PMID:19075187
RGD:5131619
NCBI chr 9:62,166,324...62,194,674
Ensembl chr 9:62,166,192...62,194,685
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Cd3e
CD3 epsilon subunit of T-cell receptor complex
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12833524
NCBI chr 8:45,303,848...45,315,005
Ensembl chr 8:45,303,852...45,315,022
G
Cd40
CD40 molecule
ISO
DNA:SNP: :rs4810485 (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:18794853 PMID:20453842 PMID:23143596 PMID:20498205
RGD:5490972
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
G
Cd5
Cd5 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143596
NCBI chr 1:207,365,337...207,386,313
Ensembl chr 1:207,365,337...207,386,313
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Cd80
Cd80 molecule
ISO
protein:increased expression:serum
RGD
PMID:22917707
RGD:6893647
NCBI chr11:62,254,543...62,293,414
Ensembl chr11:62,254,624...62,292,030
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Cd83
CD83 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22446963
NCBI chr17:20,887,309...20,907,009
Ensembl chr17:20,887,309...20,907,083
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Cdk6
cyclin-dependent kinase 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18794853
NCBI chr 4:30,637,650...30,829,688
Ensembl chr 4:30,646,460...30,829,634
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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 3:156,398,035...156,399,466
Ensembl chr 3:156,397,052...156,399,473
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Chi3l1
chitinase 3 like 1
severity
ISO
protein:increased secretion:serum (human)
RGD
PMID:10461474
RGD:4892605
NCBI chr13:45,641,802...45,649,787
Ensembl chr13:45,641,802...45,649,787
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Chrna7
cholinergic receptor nicotinic alpha 7 subunit
IEP
mRNA,protein:increased expression:joint, spleen:
RGD
PMID:31279484
RGD:151676715
NCBI chr 1:116,711,559...116,837,269
Ensembl chr 1:116,714,711...116,837,240
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Chrng
cholinergic receptor nicotinic gamma subunit
ISO
ClinVar Annotator: match by term: Rheumatoid arthritis
ClinVar
PMID:23261301 PMID:25741868 PMID:28492532
NCBI chr 9:87,878,085...87,884,193
Ensembl chr 9:87,878,085...87,914,482
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Ciita
class II, major histocompatibility complex, transactivator
susceptibility no_association
ISO
DNA:haplotype:promoter/CDS:rs3087456G/rs4774C (human) CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: RHEUMATOID ARTHRITIS, SUSCEPTIBILITY TO | 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 chr10:5,139,947...5,187,493
Ensembl chr10:5,140,178...5,187,440
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Clec12a
C-type lectin domain family 12, member A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17568789
NCBI chr 4:162,798,125...162,816,757
Ensembl chr 4:162,798,125...162,816,753
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Clec16a
C-type lectin domain containing 16A
ISO
DNA:polymorphism:intron:rs6498169G (human)
RGD
PMID:19221398
RGD:5491176
NCBI chr10:4,927,799...5,123,749
Ensembl chr10:4,928,030...5,123,578
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Col2a1
collagen type II alpha 1 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27028940 PMID:29935983
NCBI chr 7:129,098,489...129,127,560
Ensembl chr 7:129,098,786...129,127,546
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Cp
ceruloplasmin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26001728
NCBI chr 2:102,439,433...102,498,075
Ensembl chr 2:102,439,624...102,498,075
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Crp
C-reactive protein
ISO IDA
protein:increased expression:serum CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:1568518 PMID:22173958 PMID:22173958
RGD:6904209 , RGD:6904209
NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
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Csf2
colony stimulating factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22446963
NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199
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Ctla4
cytotoxic T-lymphocyte-associated protein 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20453842 PMID:23143596
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
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Ctsd
cathepsin D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12833524
NCBI chr 1:197,527,467...197,539,343
Ensembl chr 1:197,527,467...197,539,488
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Cx3cl1
C-X3-C motif chemokine ligand 1
ISO
RGD
PMID:11465708
RGD:4892002
NCBI chr19:10,227,337...10,237,826
Ensembl chr19:10,227,340...10,236,833
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Cxcl2
C-X-C motif chemokine ligand 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15292528
NCBI chr14:17,181,030...17,183,075
Ensembl chr14:17,181,062...17,183,075
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Cxcl6
C-X-C motif chemokine ligand 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15292528
NCBI chr14:17,310,790...17,312,250
Ensembl chr14:17,310,426...17,313,093
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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:66,844,318...66,846,969
Ensembl chr X:66,844,318...66,846,969
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Cxcr4
C-X-C motif chemokine receptor 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19192274
NCBI chr13:40,077,976...40,081,883
Ensembl chr13:40,077,976...40,081,883
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Cybb
cytochrome b-245 beta chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24313545
NCBI chr X:13,358,101...13,392,570
Ensembl chr X:13,359,430...13,392,586
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Ddit4
DNA-damage-inducible transcript 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17379860
NCBI chr20:27,891,989...27,894,088
Ensembl chr20:27,891,998...27,894,105
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Ddx6
DEAD-box helicase 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143596
NCBI chr 8:44,931,127...44,967,773
Ensembl chr 8:44,931,974...44,964,405
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Dhfr
dihydrofolate reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23897011
NCBI chr 2:23,585,876...23,611,199
Ensembl chr 2:23,586,031...23,613,713
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Dnase1l3
deoxyribonuclease 1L3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143596 PMID:30224649
NCBI chr15:16,922,335...16,948,322
Ensembl chr15:16,922,335...16,948,317
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Dnase2
deoxyribonuclease 2, lysosomal
ISS
OMIM:180300
MouseDO
NCBI chr19:23,244,656...23,247,376
Ensembl chr19:23,244,664...23,247,376
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Dnmt1
DNA methyltransferase 1
severity
ISO
mRNA:increased expression:mononuclear cell
RGD
PMID:20937307
RGD:9588623
NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659
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Dnmt3b
DNA methyltransferase 3 beta
disease_progression
ISO
DNA:polymorphism:promoter:-283C>T(human)
RGD
PMID:19777235
RGD:9589110
NCBI chr 3:142,130,588...142,169,128
Ensembl chr 3:142,130,592...142,169,124
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Edn1
endothelin 1
treatment
ISO
RGD
PMID:22249931
RGD:8661695
NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
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Eln
elastin
ISO
RGD
PMID:12643515
RGD:9585739
NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928
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Eno1
enolase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19898480
NCBI chr 5:160,719,951...160,731,337
Ensembl chr 5:160,719,951...160,731,336
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Epas1
endothelial PAS domain protein 1
ISO
protein:increased expression:layer of synovial tissue, stromal cell
RGD
PMID:12823854
RGD:10395366
NCBI chr 6:7,790,236...7,871,717
Ensembl chr 6:7,790,647...7,871,228
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Esco2
establishment of sister chromatid cohesion N-acetyltransferase 2
ISO
mRNA:increased expression:peripheral blood mononuclear cell
RGD
PMID:36104638
RGD:155791669
NCBI chr15:40,034,566...40,052,295
Ensembl chr15:40,034,568...40,055,306
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Esr2
estrogen receptor 2
severity
ISO
DNA:SNP:exon:rs1256049(human)
RGD
PMID:21523342
RGD:5508794
NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919
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F2
coagulation factor II, thrombin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26001728
NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
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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 chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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Faslg
Fas ligand
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20008919
NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
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Fcgr1a
Fc gamma receptor 1A
ISO
protein:increased expression:synovial joint:
RGD
PMID:16670289
RGD:9685708
NCBI chr 2:183,851,075...183,860,077
Ensembl chr 2:183,851,077...183,859,994
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Fcgr2a
Fc gamma receptor 2A
ISO
DNA:polymorphism: :p.H131R (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:20453842 PMID:23143596 PMID:12508778 PMID:8254199
RGD:5147978 , RGD:5147984
NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967
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Fcgr3a
Fc gamma receptor 3A
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 chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921
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Fkbp5
FKBP prolyl isomerase 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12833524
NCBI chr20:6,457,207...6,575,404
Ensembl chr20:6,457,216...6,541,674
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Foxo3
forkhead box O3
ISO
mRNA,protein:increased expression:peripheral blood mononuclear cell, polymorphonuclear cell,synovium:
RGD
PMID:19435720
RGD:10402186
NCBI chr20:45,669,708...45,764,606
Ensembl chr20:45,672,995...45,764,561
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Foxp3
forkhead box P3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20476861
NCBI chr X:14,908,494...14,924,994
Ensembl chr X:14,908,494...14,923,838
G
Fpgs
folylpolyglutamate synthase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23897011
NCBI chr 3:15,972,800...15,993,592
Ensembl chr 3:15,972,800...15,993,563
G
Gart
phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23897011
NCBI chr11:30,864,896...30,891,125
Ensembl chr11:30,865,889...30,891,125
G
Gata3
GATA binding protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143596
NCBI chr17:68,643,760...68,666,000
Ensembl chr17:68,643,873...68,665,391
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Gc
GC, vitamin D binding protein
ISO
protein:decreased expression:plasma CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:3874814 PMID:9548303
RGD:5509931
NCBI chr14:18,632,146...18,667,563
Ensembl chr14:18,632,135...18,667,567
G
Gdf5
growth differentiation factor 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18830904
NCBI chr 3:144,454,316...144,458,508
Ensembl chr 3:144,454,338...144,458,612
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Ggh
gamma-glutamyl hydrolase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23897011
NCBI chr 5:33,529,880...33,552,790
Ensembl chr 5:33,529,880...33,552,787
G
Gin1
gypsy retrotransposon integrase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143596
NCBI chr 9:98,293,596...98,315,155
Ensembl chr 9:98,293,597...98,315,848
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Gprc5a
G protein-coupled receptor, class C, group 5, member A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17379860
NCBI chr 4:167,903,542...167,922,276
Ensembl chr 4:167,903,542...167,922,260
G
Grk2
G protein-coupled receptor kinase 2
ISO
DNA: deletion: : heterozygous CTD Direct Evidence: marker/mechanism protein: decreased expression: mononuclear cells
CTD RGD
PMID:10094932 PMID:18662895 PMID:10094932
RGD:5688373 , RGD:5688380
NCBI chr 1:201,580,823...201,601,580
Ensembl chr 1:201,581,480...201,601,582
G
Grk5
G protein-coupled receptor kinase 5
no_association
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 chr 1:260,028,269...260,223,699
Ensembl chr 1:260,028,242...260,218,701
G
Grk6
G protein-coupled receptor kinase 6
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 chr17:9,177,018...9,192,813
Ensembl chr17:9,177,019...9,192,644
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Gsdme
gasdermin E
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17379860
NCBI chr 4:79,258,799...79,321,129
Ensembl chr 4:79,257,804...79,320,806
G
Gstm1
glutathione S-transferase mu 1
susceptibility
ISO
DNA:deletion: : DNA:deletion: :
RGD
PMID:16887863 PMID:15940757 PMID:16870093
RGD:5490993 , RGD:5490998 , RGD:5490994
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
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 chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
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Hapln1
hyaluronan and proteoglycan link protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17568789
NCBI chr 2:20,631,640...20,696,388
Ensembl chr 2:20,631,640...20,693,777
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Hcls1
hematopoietic cell specific Lyn substrate 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12833524
NCBI chr11:63,817,482...63,840,943
Ensembl chr11:63,817,476...63,841,014
G
Hdac1
histone deacetylase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:32289289
NCBI chr 5:141,853,992...141,881,057
Ensembl chr 5:141,853,989...141,881,111
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Hfe
homeostatic iron regulator
ISO
DNA:missense mutation: :p.C282Y (rs1800562) (human)
RGD
PMID:30651232
RGD:14746965
NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502
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Hgf
hepatocyte growth factor
disease_progression
ISO
protein:increased expression:serum:
RGD
PMID:24387171
RGD:8548659
NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409
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Hif1a
hypoxia inducible factor 1 subunit alpha
ISO
protein:increased expression:layer of synovial tissue, stromal cell
RGD
PMID:12823854
RGD:10395366
NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261
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Hnrnpa2b1
heterogeneous nuclear ribonucleoprotein A2/B1
severity
IDA
RGD
PMID:18025202
RGD:9685481
NCBI chr 4:80,534,659...80,545,297
Ensembl chr 4:80,534,651...80,545,249
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Hoxd10
homeo box D10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17568789
NCBI chr 3:59,594,516...59,597,725
Ensembl chr 3:59,594,516...59,597,725
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Hoxd11
homeobox D11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17568789
NCBI chr 3:59,584,840...59,587,257
Ensembl chr 3:59,585,039...59,586,783
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Hoxd13
homeo box D13
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17568789
NCBI chr 3:59,570,647...59,573,963
Ensembl chr 3:59,570,646...59,573,963
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Hsd11b1
hydroxysteroid 11-beta dehydrogenase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19192274
NCBI chr13:104,728,539...104,798,884
Ensembl chr13:104,728,539...104,788,687
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Hsp90aa1
heat shock protein 90 alpha family class A member 1
ISO
mRNA:increased expression:peripheral blood leukocyte:
RGD
PMID:21417552
RGD:10402843
NCBI chr 6:129,702,376...129,707,907
Ensembl chr 6:129,702,383...129,707,268
G
Hspa4
heat shock protein family A (Hsp70) member 4
ISO
protein:increased expression:peripheral blood lymphocyte (human)
RGD
PMID:22047640
RGD:5688784
NCBI chr10:37,408,025...37,449,080
Ensembl chr10:37,408,025...37,449,001
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Hspa5
heat shock protein family A (Hsp70) member 5
ISO
protein:increased expression:synovial joint
RGD
PMID:11315915
RGD:5685639
NCBI chr 3:18,055,507...18,059,969
Ensembl chr 3:18,055,405...18,059,891
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Hspa9
heat shock protein family A (Hsp70) member 9
ISO
protein:increased expression:synovial cell:
RGD
PMID:23739258
RGD:10402561
NCBI chr18:26,536,131...26,554,294
Ensembl chr18:26,535,798...26,554,292
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Hspb1
heat shock protein family B (small) member 1
ISO
protein:increased expression:serum:
RGD
PMID:21417552
RGD:10402843
NCBI chr12:20,794,014...20,795,675
Ensembl chr12:20,794,028...20,795,743
G
Hspd1
heat shock protein family D (Hsp60) member 1
ISO
mRNA:increased expression:peripheral blood leukocyte:
RGD
PMID:21417552
RGD:10402843
NCBI chr 9:56,579,195...56,590,011
Ensembl chr 9:56,579,201...56,589,662
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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 chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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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 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018
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Igfbp3
insulin-like growth factor binding protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17379860
NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083
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Ikzf3
IKAROS family zinc finger 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143596
NCBI chr10:83,460,564...83,553,591
Ensembl chr10:83,465,745...83,553,591
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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 chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
G
Il13
interleukin 13
ISO
protein:increased expression:serum
RGD
PMID:12051401
RGD:8549582
NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
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Il17a
interleukin 17A
treatment
ISO
mRNA:increased expression:synovial (human)
RGD
PMID:20926833 PMID:22660635
RGD:9068415 , RGD:155663483
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
G
Il18
interleukin 18
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16368150
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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 chr13:42,397,715...42,411,637
Ensembl chr13:42,399,138...42,405,473
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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 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
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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 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Il1rn
interleukin 1 receptor antagonist
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD RGD
PMID:7706905 PMID:19192274 PMID:19447938 PMID:10637275
RGD:7174696 , RGD:8549810
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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Il2
interleukin 2
ISO
RGD
PMID:6421522
RGD:8662948
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
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Il20
interleukin 20
ISO
RGD
PMID:16947773
RGD:5147395
NCBI chr13:42,380,981...42,384,625
Ensembl chr13:42,380,981...42,384,625
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Il21r
interleukin 21 receptor
ISO
RGD
PMID:19342640
RGD:6892964
NCBI chr 1:180,168,028...180,195,690
Ensembl chr 1:180,168,097...180,195,522
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Il23a
interleukin 23 subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19192274
NCBI chr 7:721,809...723,923
Ensembl chr 7:721,809...723,923
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Il23r
interleukin 23 receptor
susceptibility
ISO
DNA:SNP::rs1343151(human)
RGD
PMID:18647855
RGD:8549596
NCBI chr 4:96,580,568...96,672,540
Ensembl chr 4:96,580,714...96,674,021
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Il2ra
interleukin 2 receptor subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20453842 PMID:20476861 PMID:23143596
NCBI chr17:66,849,974...66,898,665
Ensembl chr17:66,849,974...66,898,697
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Il2rb
interleukin 2 receptor subunit beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20453842 PMID:23143596
NCBI chr 7:110,033,341...110,048,054
Ensembl chr 7:110,033,341...110,048,054
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Il3
interleukin 3
ISO
DNA: SNPs: Multiple: gene-gene interaction
RGD
PMID:20018070
RGD:5686905
NCBI chr10:38,405,716...38,408,066
Ensembl chr10:38,405,716...38,408,066
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Il4r
interleukin 4 receptor
severity
ISO
DNA:SNP: :rs1805010 (human)
RGD
PMID:24782180
RGD:10402783
NCBI chr 1:180,115,061...180,139,981
Ensembl chr 1:180,115,120...180,139,980
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Il5
interleukin 5
ISO
RGD
PMID:22293286
RGD:5687156
NCBI chr10:37,874,342...37,877,213
Ensembl chr10:37,874,342...37,877,213
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Il6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19192274 PMID:22450443
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Il6r
interleukin 6 receptor
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
PMID:16729287 PMID:23143596
NCBI chr 2:175,289,157...175,347,719
Ensembl chr 2:175,298,686...175,347,536
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Il6st
interleukin 6 cytokine family signal transducer
ISO ISS
CTD Direct Evidence: marker/mechanism OMIM:180300
CTD MouseDO
PMID:20453842
NCBI chr 2:44,065,979...44,106,255
Ensembl chr 2:44,066,130...44,109,936
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Irak1
interleukin-1 receptor-associated kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143596
NCBI chr X:151,768,621...151,778,521
Ensembl chr X:151,768,777...151,778,521
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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 4:58,127,577...58,140,665
Ensembl chr 4:58,127,640...58,139,267
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Irf8
interferon regulatory factor 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143596
NCBI chr19:48,790,581...48,812,363
Ensembl chr19:48,790,588...48,811,829
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Itga6
integrin subunit alpha 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17379860
NCBI chr 3:56,604,512...56,689,428
Ensembl chr 3:56,617,268...56,689,428
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Itpa
inosine triphosphatase
treatment
ISO
DNA:SNP: :94C>A(human)
RGD
PMID:29441893
RGD:14975307
NCBI chr 3:117,885,464...117,897,247
Ensembl chr 3:117,885,099...117,897,249
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Jak2
Janus kinase 2
ISO
RGD
PMID:21510883
RGD:6483024
NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
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Kat2b
lysine acetyltransferase 2B
ISO
mRNA:increased expression:peripheral blood mononuclear cell
RGD
PMID:36104638
RGD:155791669
NCBI chr 9:6,562,525...6,667,064
Ensembl chr 9:6,562,288...6,667,064
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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 chr 7:63,051,894...63,089,024
Ensembl chr 7:63,049,424...63,092,858
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Kmt2c
lysine methyltransferase 2C
treatment
IMP
RGD
PMID:33914205
RGD:151356764
NCBI chr 4:9,620,638...9,834,787
Ensembl chr 4:9,609,627...9,833,539
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Lcn2
lipocalin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7554268
NCBI chr 3:15,680,688...15,684,033
Ensembl chr 3:15,680,687...15,684,095
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Lhx2
LIM homeobox 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17568789
NCBI chr 3:22,113,619...22,143,909
Ensembl chr 3:22,126,007...22,143,908
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Lrrk2
leucine-rich repeat kinase 2
ISO
RGD
PMID:17082220
RGD:5508419
NCBI chr 7:122,826,696...122,987,711
Ensembl chr 7:122,826,696...122,987,703
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Ly96
lymphocyte antigen 96
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17379860
NCBI chr 5:2,582,233...2,612,357
Ensembl chr 5:2,582,254...2,612,386
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Mab21l2
mab-21 like 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17568789
NCBI chr 2:171,946,573...171,949,655
Ensembl chr 2:171,946,573...171,949,655
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Marcks
myristoylated alanine rich protein kinase C substrate
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19192274
NCBI chr20:40,685,315...40,691,012
Ensembl chr20:40,685,315...40,691,012
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Mbd2
methyl-CpG binding domain protein 2
ISO
mRNA:increased expression:mononuclear cell
RGD
PMID:20937307
RGD:9588623
NCBI chr18:64,174,002...64,240,795
Ensembl chr18:64,174,002...64,240,794
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Mbd4
methyl-CpG binding domain 4 DNA glycosylase
susceptibility no_association
ISO
DNA:snps:introns:IVS5-140A>G (rs3138355), IVS6-218C>T (rs2005618) (human) DNA:snps:cds, intron:p.E346K, IVS6-218C>T (rs140693, rs2005618) (human)
RGD
PMID:20676650 PMID:22505706
RGD:9588977 , RGD:9588978
NCBI chr 4:148,893,049...148,904,833
Ensembl chr 4:148,894,280...148,904,982
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Mdk
midkine
ISO
RGD
PMID:15146411
RGD:1581200
NCBI chr 3:77,901,134...77,903,997
Ensembl chr 3:77,901,158...77,903,130
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Mgarp
mitochondria-localized glutamic acid-rich protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17568789
NCBI chr 2:135,431,283...135,439,425
Ensembl chr 2:135,431,283...135,439,612
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Mif
macrophage migration inhibitory factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16872482
NCBI chr20:12,790,919...12,791,784
Ensembl chr20:12,790,902...12,799,504
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Mir146a
microRNA 146a
ISO
mRNA:decreased expression:cartilage tissue (human) mRNA:increased expression:synovial (human)
RGD
PMID:31472145 PMID:22660635
RGD:152177908 , RGD:155663483
NCBI chr10:27,848,516...27,848,610
Ensembl chr10:27,848,516...27,848,610
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Mir23b
microRNA 23b
ISO
mRNA, protein:decreased expression:synovial (human)
RGD
PMID:22660635
RGD:155663483
NCBI chr17:1,813,667...1,813,763
Ensembl chr17:1,813,667...1,813,763
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Mmel1
membrane metallo-endopeptidase-like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143596
NCBI chr 5:165,431,278...165,461,716
Ensembl chr 5:165,431,343...165,461,716
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Mmp1
matrix metallopeptidase 1
ISO
protein:increased expression:plasma (human)
RGD
PMID:9972954
RGD:7207129
NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
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Mmp10
matrix metallopeptidase 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19192274
NCBI chr 8:4,689,840...4,697,748
Ensembl chr 8:4,689,840...4,697,748
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Mmp12
matrix metallopeptidase 12
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19192274
NCBI chr 8:4,581,785...4,591,687
Ensembl chr 8:4,581,785...4,599,611
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Mmp14
matrix metallopeptidase 14
ISS
OMIM:180300
MouseDO
NCBI chr15:27,887,795...27,897,020
Ensembl chr15:27,887,727...27,899,864
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Mmp2
matrix metallopeptidase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16872482
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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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 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961
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Mmp8
matrix metallopeptidase 8
ISO
protein:increased expression:synovial fluid, serum (human)
RGD
PMID:15194590
RGD:7207131
NCBI chr 8:4,724,009...4,733,864
Ensembl chr 8:4,724,029...4,733,520
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Mmp9
matrix metallopeptidase 9
ISO
RGD
PMID:16406300
RGD:1582623
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Mpo
myeloperoxidase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22450443 PMID:26001728
NCBI chr10:72,594,883...72,608,862
Ensembl chr10:72,594,661...72,604,819
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Mt-nd1
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1
ISO
DNA:missense mutations:cds:multiple (human)
RGD
PMID:15987486
RGD:5490238
NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694
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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 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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Ncf1
neutrophil cytosolic factor 1
induced
ISO IAGP
CTD Direct Evidence: marker/mechanism DNA:polymorphism:M153T (rat)
CTD RGD
PMID:12833524 PMID:28135245 PMID:21275845
RGD:41404729
NCBI chr12:22,485,382...22,494,647
Ensembl chr12:22,485,451...22,494,646
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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 chr13:64,955,622...64,986,144
Ensembl chr13:64,955,503...64,986,277
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Ncf4
neutrophil cytosolic factor 4
ISO
DNA:polymorphism, SNP:cds (rs729749) (human)
RGD
PMID:17897462
RGD:41404710
NCBI chr 7:109,825,420...109,843,389
Ensembl chr 7:109,826,020...109,843,389
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Ndufa4l2
NDUFA4, mitochondrial complex associated like 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19192274
NCBI chr 7:63,351,021...63,359,010
Ensembl chr 7:63,356,883...63,359,010
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Nfkbie
NFKB inhibitor epsilon
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22446963
NCBI chr 9:15,443,600...15,450,437
Ensembl chr 9:15,436,941...15,450,437
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Nfkbil1
NFKB inhibitor like 1
susceptibility
ISO
DNA:snp:promoter:c.-132T>A (rs2071592) (human) CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Rheumatoid arthritis
CTD OMIM ClinVar RGD
PMID:12509789 PMID:12509789
RGD:1331681
NCBI chr20:3,589,974...3,608,348
Ensembl chr20:3,590,642...3,605,616
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Notch4
notch receptor 4
ISO
mRNA : increased expression: : cd4+ cells
RGD
PMID:20132067
RGD:6480790
NCBI chr20:4,160,362...4,184,466
Ensembl chr20:4,160,445...4,184,465
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Npsr1
neuropeptide S receptor 1
ISO
RGD
PMID:20179762
RGD:4891930
NCBI chr 8:22,606,946...22,831,558
Ensembl chr 8:22,606,946...22,831,558
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Nr3c1
nuclear receptor subfamily 3, group C, member 1
IEP
mRNA:increased expression:paw
RGD
PMID:18448865
RGD:4892311
NCBI chr18:31,271,681...31,393,320
Ensembl chr18:31,271,681...31,393,375
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Nr4a3
nuclear receptor subfamily 4, group A, member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19192274
NCBI chr 5:62,361,588...62,401,489
Ensembl chr 5:62,361,822...62,402,733
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Oprm1
opioid receptor, mu 1
susceptibility
ISO
DNA:missense mutation:exon:p.N40D (118A>G) (rs 1799971) (human)
RGD
PMID:31309790
RGD:401827955
NCBI chr 1:43,160,057...43,413,409
Ensembl chr 1:43,160,057...43,413,409
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Padi2
peptidyl arginine deiminase 2
ISO
ClinVar Annotator: match by term: Rheumatoid arthritis
ClinVar
NCBI chr 5:153,209,053...153,251,632
Ensembl chr 5:153,209,053...153,251,632
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Padi4
peptidyl arginine deiminase 4
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Rheumatoid arthritis
CTD ClinVar
PMID:23143596 PMID:25741868
NCBI chr 5:153,041,351...153,074,412
Ensembl chr 5:153,041,352...153,074,362
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Pdgfb
platelet derived growth factor subunit B
ISO
RGD
PMID:1708827
RGD:6482653
NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984
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Pgf
placental growth factor
ISO
RGD
PMID:19180491
RGD:6483591
NCBI chr 6:104,816,102...104,826,685
Ensembl chr 6:104,816,104...104,826,685
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Pik3r1
phosphoinositide-3-kinase regulatory subunit 1
ISO
mRNA:increased expression:cartilage tissue (human)
RGD
PMID:31472145
RGD:152177908
NCBI chr 2:32,878,942...32,963,668
Ensembl chr 2:32,882,032...32,963,631
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Pla2g7
phospholipase A2 group VII
ISO
RGD
PMID:17326817
RGD:6482776
NCBI chr 9:17,362,214...17,404,476
Ensembl chr 9:17,362,225...17,404,476
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Plaur
plasminogen activator, urokinase receptor
ISO
RGD
PMID:22011479
RGD:6484117
NCBI chr 1:80,053,440...80,068,384
Ensembl chr 1:80,050,324...80,068,595
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Plb1
phospholipase B1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24520335
NCBI chr 6:24,087,051...24,227,167
Ensembl chr 6:24,089,214...24,210,117
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Pld4
phospholipase D family, member 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22446963
NCBI chr 6:131,818,860...131,827,457
Ensembl chr 6:131,818,860...131,826,376
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Plek
pleckstrin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12833524
NCBI chr14:91,397,015...91,429,693
Ensembl chr14:91,397,019...91,454,131
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Pon1
paraoxonase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16055108
NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
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Pou3f1
POU class 3 homeobox 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143596
NCBI chr 5:136,910,391...136,913,371
Ensembl chr 5:136,910,391...136,913,371
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Prdm1
PR/SET domain 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19898481 PMID:20453842 PMID:23143596 PMID:36181686
NCBI chr20:47,959,858...47,981,488
Ensembl chr20:47,959,858...47,981,488
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Prkcq
protein kinase C, theta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18794853 PMID:20453842 PMID:23143596
NCBI chr17:67,246,394...67,379,049
Ensembl chr17:67,246,394...67,378,704
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Ptgs1
prostaglandin-endoperoxide synthase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15167967
NCBI chr 3:19,584,015...19,605,589
Ensembl chr 3:19,584,015...19,605,586
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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 chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
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Ptk2
protein tyrosine kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12833524
NCBI chr 7:105,126,725...105,331,848
Ensembl chr 7:105,126,728...105,331,783
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Ptpn2
protein tyrosine phosphatase, non-receptor type 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22446963
NCBI chr18:61,229,012...61,294,662
Ensembl chr18:61,229,014...61,294,627
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Ptpn22
protein tyrosine phosphatase, non-receptor type 22
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 2:191,366,761...191,414,782
Ensembl chr 2:191,366,808...191,414,779
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Ptprc
protein tyrosine phosphatase, receptor type, C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20453842 PMID:23143596
NCBI chr13:49,596,193...49,708,283
Ensembl chr13:49,596,193...49,708,692
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Pxk
PX domain containing serine/threonine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20453842
NCBI chr15:16,759,857...16,828,452
Ensembl chr15:16,759,862...16,828,444
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Rab8a
RAB8A, member RAS oncogene family
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12833524
NCBI chr16:17,654,027...17,675,385
Ensembl chr16:17,654,034...17,675,678
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Rap2a
RAP2A, member of RAS oncogene family
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12833524
NCBI chr15:97,596,848...97,597,338
Ensembl chr15:97,596,020...97,624,138
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Rasgrp1
RAS guanyl releasing protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143596
NCBI chr 3:104,168,549...104,230,107
Ensembl chr 3:104,170,013...104,230,056
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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 chr14:57,338,493...57,523,330
Ensembl chr14:57,338,507...57,523,353
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Rcan1
regulator of calcineurin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143596
NCBI chr11:31,622,208...31,702,150
Ensembl chr11:31,622,210...31,702,045
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Rel
REL proto-oncogene, NF-kB subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19503088 PMID:20453842 PMID:23143596
NCBI chr14:97,690,105...97,721,194
Ensembl chr14:97,695,161...97,720,892
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Rgmb
repulsive guidance molecule BMP co-receptor b
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17568789
NCBI chr 1:56,766,598...56,792,396
Ensembl chr 1:56,767,850...56,792,425
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RT1-Ba
RT1 class II, locus Ba
ISO
DNA:polymorphisms (human) DNA:polymorphism (human)
RGD
PMID:11482129 PMID:11454644
RGD:5147859 , RGD:5147860
NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
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RT1-Bb
RT1 class II, locus Bb
ISO
DNA:polymorphism (human)
RGD
PMID:11454644
RGD:5147860
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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RT1-Db1
RT1 class II, locus Db1
susceptibility
ISO
CTD Direct Evidence: marker/mechanism DNA:polymorphism (human) DNA:polymorphisms (human) DNA:polymorphisms: :multiple (human)
CTD RGD
PMID:19898480 PMID:20453842 PMID:22286218 PMID:18512783 PMID:11454644 PMID:19117368 PMID:21246357 More...
RGD:4144826 , RGD:5147860 , RGD:5147616 , RGD:5147567
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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RT1-Hb-ps1
RT1 class II, locus Hb, pseudogene 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17956852 PMID:22286218
NCBI chr20:4,775,598...4,779,590
Ensembl chr20:4,774,650...4,780,618
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Runx1
RUNX family 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 chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542
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Runx2
RUNX family transcription factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20008919
NCBI chr 9:16,167,504...16,492,826
Ensembl chr 9:16,167,482...16,492,167
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Sema3c
semaphorin 3C
ISO
protein:increased expression:knee, synovium (human)
RGD
PMID:15077297
RGD:1580084
NCBI chr 4:17,583,212...17,747,234
Ensembl chr 4:17,583,212...17,746,534
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Slc11a1
solute carrier family 11 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 9:75,957,193...75,968,115
Ensembl chr 9:75,957,316...75,968,101
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Slc22a4
solute carrier family 22 member 4
susceptibility
ISO
ClinVar Annotator: match by term: Rheumatoid arthritis | ClinVar Annotator: match by term: SLC22A4-related condition CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:14608356 PMID:19881261 PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr10:38,133,333...38,179,932
Ensembl chr10:38,133,322...38,179,720
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Slc25a12
solute carrier family 25 member 12
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12833524
NCBI chr 3:56,097,166...56,191,841
Ensembl chr 3:56,097,269...56,192,100
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Sms
spermine synthase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19192274
NCBI chr X:37,516,949...37,572,657
Ensembl chr X:37,516,931...37,570,822
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Sod2
superoxide dismutase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12833524 PMID:15292528 PMID:24313545
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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Spp1
secreted phosphoprotein 1
ISO
RGD
PMID:15761492
RGD:1581382
NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162
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Spred2
sprouty-related, EVH1 domain containing 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20453842 PMID:23143596
NCBI chr14:94,149,210...94,250,787
Ensembl chr14:94,148,837...94,249,162
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St6galnac5
ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17379860 PMID:17568789
NCBI chr 2:241,741,933...241,911,214
Ensembl chr 2:241,742,688...241,911,208
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Stat1
signal transducer and activator of transcription 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12833524
NCBI chr 9:49,419,561...49,459,969
Ensembl chr 9:49,419,340...49,588,540
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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 chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
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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 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540
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Sts
steroid sulfatase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19192274
NCBI chr X:42,225,131...42,233,403
Ensembl chr X:42,225,372...42,233,402
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Supt20h
SPT20 homolog, SAGA complex component
ISO
ClinVar Annotator: match by term: Rheumatoid arthritis
ClinVar
NCBI chr 2:138,897,316...138,930,493
Ensembl chr 2:138,897,416...138,930,495
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Tab2
TGF-beta activated kinase 1/MAP3K7 binding protein 2
ISO
mRNA, protein:increased expression:synovial (human)
RGD
PMID:22660635
RGD:155663483
NCBI chr 1:2,375,026...2,425,115
Ensembl chr 1:2,375,490...2,424,756
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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:49,972,414...50,044,658
Ensembl chr X:49,972,330...50,042,056
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Tagap
T-cell activation RhoGTPase activating protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20453842 PMID:23143596
NCBI chr 1:47,170,725...47,179,705
Ensembl chr 1:47,170,725...47,179,792
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Tap2
transporter 2, ATP binding cassette subfamily B member
ISO
RGD
PMID:9645419
RGD:6482275
NCBI chr20:4,636,347...4,650,387
Ensembl chr20:4,636,357...4,650,407
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Tfpi2
tissue factor pathway inhibitor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15292528 PMID:17379860
NCBI chr 4:31,981,786...31,986,707
Ensembl chr 4:31,982,178...31,986,600
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Thbd
thrombomodulin
ISO
RGD
PMID:15700117
RGD:5685020
NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193
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Tle3
TLE family member 3, transcriptional corepressor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143596
NCBI chr 8:61,857,791...61,903,505
Ensembl chr 8:61,858,200...61,903,493
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Tlr1
toll-like receptor 1
ISO
ClinVar Annotator: match by term: Rheumatoid arthritis
ClinVar
PMID:32594150
NCBI chr14:43,384,127...43,396,765
Ensembl chr14:43,384,932...43,397,125
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Tlr2
toll-like receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19192274
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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Tmpo
thymopoietin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12833524
NCBI chr 7:25,642,752...25,667,756
Ensembl chr 7:25,586,725...25,667,727
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Tnf
tumor necrosis factor
treatment no_association
ISO ISS
OMIM:180300 mRNA:increased expression:synovial (human) CTD Direct Evidence: marker/mechanism|therapeutic DNA:SNP:promoter:-238G>A, -308G>A (human) DNA:SNP:promoter:-857C>T (human)
MouseDO CTD 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 chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Tnfaip2
TNF alpha induced protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19192274
NCBI chr 6:130,476,832...130,489,914
Ensembl chr 6:130,476,889...130,489,914
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Tnfaip3
TNF alpha induced protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18794853 PMID:20453842 PMID:21841782 PMID:23143596 PMID:30224649
NCBI chr 1:13,709,211...13,724,291
Ensembl chr 1:13,709,206...13,725,282
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Tnfrsf11b
TNF receptor superfamily member 11B
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:23333834
NCBI chr 7:85,566,520...85,594,526
Ensembl chr 7:85,566,520...85,594,538
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Tnfrsf14
TNF receptor superfamily member 14
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20453842
NCBI chr 5:165,486,069...165,494,421
Ensembl chr 5:165,484,262...165,493,703
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Tnfrsf1a
TNF receptor superfamily member 1A
treatment
ISO
DNA:SNP:promoter:36G>A (human)
RGD
PMID:25311255
RGD:12904065
NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
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Tnfsf14
TNF superfamily member 14
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20008919
NCBI chr 9:2,068,295...2,073,128
Ensembl chr 9:2,069,104...2,073,216
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Traf1
TNF receptor-associated factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18794853 PMID:23143596
NCBI chr 3:18,222,024...18,242,163
Ensembl chr 3:18,222,054...18,241,807
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Traf6
TNF receptor associated factor 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20453842 PMID:23143596
NCBI chr 3:87,963,517...87,988,316
Ensembl chr 3:87,963,514...87,983,507
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Trem1
triggering receptor expressed on myeloid cells 1
treatment
IEP
RGD
PMID:27049384
RGD:127229930
NCBI chr 9:12,763,819...12,779,285
Ensembl chr 9:12,763,819...12,779,203
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Txndc5
thioredoxin domain containing 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23326410
NCBI chr17:26,289,880...26,318,025
Ensembl chr17:26,289,880...26,318,025
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Txnip
thioredoxin interacting protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19192274
NCBI chr 2:184,093,079...184,096,882
Ensembl chr 2:184,092,991...184,096,886
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Tyk2
tyrosine kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143596 PMID:30224649
NCBI chr 8:19,641,881...19,667,157
Ensembl chr 8:19,641,884...19,667,044
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Tyms
thymidylate synthetase
treatment
ISO
DNA:polymorphism: :
RGD
PMID:22763757
RGD:11075093
NCBI chr 9:113,313,454...113,329,551
Ensembl chr 9:113,313,452...113,329,536
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Tyrobp
transmembrane immune signaling adaptor Tyrobp
treatment
IEP
RGD
PMID:27049384
RGD:127229930
NCBI chr 1:85,672,931...85,676,856
Ensembl chr 1:85,672,994...85,676,848
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Vdr
vitamin D receptor
no_association
ISO
DNA:SNP:exon:rs2228570 (human) DNA:SNP: :rs1544410 (human)
RGD
PMID:21820934 PMID:21820934
RGD:8158077 , RGD:8158077
NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
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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 chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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Vim
vimentin
ISO
RGD
PMID:21792832
RGD:6480508
NCBI chr17:76,668,701...76,677,186
Ensembl chr17:76,668,647...76,677,187
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Zap70
zeta chain of T cell receptor associated protein kinase 70
ISS
OMIM:180300
MouseDO
NCBI chr 9:38,989,750...39,011,701
Ensembl chr 9:38,989,750...39,011,700
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Zfp36
zinc finger protein 36
ISS
OMIM:180300
MouseDO
NCBI chr 1:83,669,084...83,671,564
Ensembl chr 1:83,669,084...83,671,564
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RT1-CE16
RT1 class I, locus CE16
susceptibility
ISO
DNA:polymorphisms:HLA-A30, 32
RGD
PMID:16078323
RGD:329961298
NCBI chr20:3,257,109...3,260,747
Ensembl chr20:3,257,123...3,279,563
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Slc39a13
solute carrier family 39 member 13
ISO
ClinVar Annotator: match by term: Scleroderma
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 3:77,039,411...77,047,528
Ensembl chr 3:77,037,565...77,049,226
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Smarcad1
SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1`
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Keratoderma with scleroatrophy of the extremities
OMIM CTD ClinVar
PMID:4298032 PMID:8731679 PMID:10631162 PMID:24909267 PMID:25741868 PMID:29409814 More...
NCBI chr 4:94,311,441...94,379,184
Ensembl chr 4:94,311,489...94,372,563
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Acan
aggrecan
ISO
ClinVar Annotator: match by term: Short stature and advanced bone age | ClinVar Annotator: match by term: Short stature and advanced bone age, with early-onset osteoarthritis | ClinVar Annotator: match by term: Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans | ClinVar Annotator: match by term: Short stature-advanced bone age-early-onset osteoarthritis syndrome
OMIM ClinVar
PMID:14216462 PMID:16080123 PMID:19110214 PMID:20137779 PMID:24762113 PMID:25741789 PMID:25741868 PMID:27710243 PMID:27870580 PMID:28331218 PMID:28492532 PMID:29769040 PMID:31841439 PMID:34922359 PMID:36714562 More...
NCBI chr 1:132,981,582...133,044,416
Ensembl chr 1:132,981,582...133,043,627
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Aire
autoimmune regulator
ISS
OMIM:270150
MouseDO
NCBI chr20:10,636,058...10,651,060
Ensembl chr20:10,636,123...10,651,060
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Apoe
apolipoprotein E
onset
ISO
DNA:polymorphism:exon:
RGD
PMID:15328426
RGD:7495765
NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
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Bdnf
brain-derived neurotrophic factor
severity
ISO
protein:increased expression:serum:
RGD
PMID:18830907
RGD:8657019
NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615
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Bst2
bone marrow stromal cell antigen 2
ISO
mRNA, protein:increased expression: labial gland, CD19+ B cell, CD4-CD8-CD19-monocyte:
RGD
PMID:30249485
RGD:14398821
NCBI chr16:18,216,605...18,220,979
Ensembl chr16:18,217,407...18,220,979
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C3
complement C3
ISO
RGD
PMID:17675493
RGD:7401265
NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
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Cast
calpastatin
ISO
associated with Lupus Erythematosus, Systemic
RGD
PMID:15540513
RGD:5683622
NCBI chr 2:3,973,112...4,082,658
Ensembl chr 2:3,973,112...4,082,659
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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 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
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Ccr7
C-C motif chemokine receptor 7
ISS
OMIM:270150
MouseDO
NCBI chr10:84,098,193...84,108,309
Ensembl chr10:84,097,381...84,108,309
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Cd40lg
CD40 ligand
ISO
protein:increased expression:salivary ductal epithelium (human)
RGD
PMID:12472667
RGD:11520791
NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306
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Crp
C-reactive protein
ISO
associated with Arthritis, Rheumatoid;protein:increased expression:serum:
RGD
PMID:2353152 PMID:16013223
RGD:9491774 , RGD:9491835
NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
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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 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
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Cyp19a1
cytochrome P450, family 19, subfamily a, polypeptide 1
ISS
OMIM:270150
MouseDO
NCBI chr 8:54,552,978...54,580,375
Ensembl chr 8:54,553,165...54,580,758
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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 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
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Dgkq
diacylglycerol kinase, theta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24097067
NCBI chr14:1,059,125...1,073,131
Ensembl chr14:1,059,170...1,073,131
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E2f1
E2F transcription factor 1
ISS
OMIM:270150
MouseDO
NCBI chr 3:143,064,535...143,075,362
Ensembl chr 3:143,049,478...143,075,361
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Fas
Fas cell surface death receptor
ISO ISS
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 chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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Fcgr2a
Fc gamma receptor 2A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24097067
NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967
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Gdnf
glial cell derived neurotrophic factor
ISO
RGD
PMID:9853108
RGD:6218983
NCBI chr 2:56,894,022...56,919,935
Ensembl chr 2:56,895,010...56,917,209
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Gtf2i
general transcription factor II I
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24097066
NCBI chr12:22,400,933...22,476,243
Ensembl chr12:22,401,431...22,476,243
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Hmox1
heme oxygenase 1
treatment
IEP
RGD
PMID:24941846
RGD:10450595
NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
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Hnrnph1
heterogeneous nuclear ribonucleoprotein H1
ISO
RGD
PMID:19264855
RGD:10054311
NCBI chr10:34,692,868...34,702,849
Ensembl chr10:34,693,555...34,702,846
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Icam1
intercellular adhesion molecule 1
treatment
ISO
protein:increased expression:salivary gland protein:increased expression:plasma
RGD
PMID:11359451 PMID:21589878 PMID:15037117
RGD:8158122 , RGD:8547705 , RGD:8547696
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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Id3
inhibitor of DNA binding 3
ISS
OMIM:270150
MouseDO
NCBI chr 5:148,372,784...148,374,353
Ensembl chr 5:148,372,762...148,374,349
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Ifng
interferon gamma
ISO
RGD
PMID:15584966 PMID:28421993
RGD:8142390 , RGD:14975117
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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Il10
interleukin 10
ISO
RGD
PMID:12233881
RGD:1580479
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Il12a
interleukin 12A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24097067
NCBI chr 2:152,965,769...152,973,035
Ensembl chr 2:152,965,769...152,972,734
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Il13
interleukin 13
ISO
protein:increased expression:serum
RGD
PMID:12051401
RGD:8549582
NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
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Il17a
interleukin 17A
ISO
RGD
PMID:21182786
RGD:8696035
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
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Il18
interleukin 18
ISO
protein:increased expression:saliva
RGD
PMID:23906036
RGD:8655918
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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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 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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Il2
interleukin 2
ISS
OMIM:270150
MouseDO
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
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Il23r
interleukin 23 receptor
ISO
protein:increased expression:minor salivary gland:
RGD
PMID:22262980
RGD:8549566
NCBI chr 4:96,580,568...96,672,540
Ensembl chr 4:96,580,714...96,674,021
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Il2ra
interleukin 2 receptor subunit alpha
ISS
OMIM:270150
MouseDO
NCBI chr17:66,849,974...66,898,665
Ensembl chr17:66,849,974...66,898,697
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Il4
interleukin 4
ISS
OMIM:270150
MouseDO
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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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 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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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 8:83,731,512...83,748,289
Ensembl chr 8:83,731,507...83,748,289
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Itsn2
intersectin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24097067
NCBI chr 6:27,616,645...27,727,373
Ensembl chr 6:27,600,406...27,727,124
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Lta
lymphotoxin alpha
no_association susceptibility
ISO
DNA:SNPs: :multiple (human) DNA:SNP, haplotype:intron: (rs909253) (human) protein:increased expression:saliva, serum
RGD
PMID:20952683 PMID:22294627 PMID:22294627 PMID:20952683
RGD:8548776 , RGD:8548787 , RGD:8548787 , RGD:8548776
NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859
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Map3k14
mitogen-activated protein kinase kinase kinase 14
ISS
OMIM:270150
MouseDO
NCBI chr10:88,165,349...88,215,558
Ensembl chr10:88,165,351...88,215,523
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Mmp3
matrix metallopeptidase 3
ISO
RGD
PMID:19332626
RGD:8693671
NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961
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Mmp9
matrix metallopeptidase 9
ISO
protein:increased activity:saliva
RGD
PMID:15316122 PMID:9923658
RGD:8547814 , RGD:8547858
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Muc16
mucin 16, cell surface associated
ISO
mRNA, protein:increased expression:conjunctival epithelial cell, tear
RGD
PMID:19122828
RGD:7364772
NCBI chr 8:16,164,531...16,323,126
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Muc19
mucin 19, oligomeric
ISO ISS
mRNA:decreased expression:conjunctival epithelial cell OMIM:270150
MouseDO RGD
PMID:18184611
RGD:7364736
NCBI chr 7:123,017,896...123,139,053
Ensembl chr 7:123,017,896...123,139,053
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Muc5ac
mucin 5AC, oligomeric mucus/gel-forming
ISO
mRNA:decreased expression:conjunctival epithelial cell
RGD
PMID:18184611
RGD:7364736
NCBI chr 1:196,864,336...196,896,475
Ensembl chr 1:196,864,336...196,896,475
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Ncf1
neutrophil cytosolic factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28135245
NCBI chr12:22,485,382...22,494,647
Ensembl chr12:22,485,451...22,494,646
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Nefl
neurofilament light chain
ISO
protein:increased expression:CSF (human)
RGD
PMID:32423153
RGD:127284890
NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793
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Nfkbia
NFKB inhibitor alpha
ISS ISO
OMIM:270150
MouseDO RGD
PMID:20696914
RGD:126908016
NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941
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Phip
pleckstrin homology domain interacting protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24097067
NCBI chr 8:83,776,802...83,891,192
Ensembl chr 8:83,781,465...83,894,283
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Pon1
paraoxonase 1
ISO
protein:decreased activity:serum (human)
RGD
PMID:20497955
RGD:8547550
NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
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Prdm1
PR/SET domain 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24097067
NCBI chr20:47,959,858...47,981,488
Ensembl chr20:47,959,858...47,981,488
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Ptpn22
protein tyrosine phosphatase, non-receptor type 22
no_association
ISO
DNA:snp:cds:c.1858C>T (human)
RGD
PMID:16163373 PMID:15933742
RGD:11534998 , RGD:11534999
NCBI chr 2:191,366,761...191,414,782
Ensembl chr 2:191,366,808...191,414,779
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Pttg1
PTTG1 regulator of sister chromatid separation, securin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24097067
NCBI chr10:27,893,466...27,904,965
Ensembl chr10:27,893,689...27,904,837
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Reg1a
regenerating family member 1 alpha
ISO
protein:increased expression:minor salivary gland, salivary ductal epithelium (human)
RGD
PMID:19016805
RGD:9850137
NCBI chr 4:110,892,451...110,895,115
Ensembl chr 4:110,892,453...110,895,570
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Rorc
RAR-related orphan receptor C
ISS
OMIM:270150
MouseDO
NCBI chr 2:182,009,707...182,034,910
Ensembl chr 2:182,009,286...182,034,907
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RT1-Ba
RT1 class II, locus Ba
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 chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
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RT1-Bb
RT1 class II, locus Bb
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 chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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RT1-Db1
RT1 class II, locus Db1
susceptibility
ISO
DNA:polymorphism:cds:HLA-DRB1*0301 (human)
RGD
PMID:11555411
RGD:5147809
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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Satb1
SATB homeobox 1
ISS
OMIM:270150
MouseDO
NCBI chr 9:4,677,817...4,773,061
Ensembl chr 9:4,680,920...4,753,251
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Selp
selectin P
ISO
protein:increased expression:plasma
RGD
PMID:19832990
RGD:6478702
NCBI chr13:76,476,229...76,511,846
Ensembl chr13:76,476,295...76,511,845
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St14
ST14 transmembrane serine protease matriptase
ISS
OMIM:270150
MouseDO
NCBI chr 8:29,540,805...29,581,704
Ensembl chr 8:29,540,811...29,581,517
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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 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540
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Tgfb1
transforming growth factor, beta 1
severity
ISO ISS
OMIM:270150
MouseDO RGD
PMID:9358754 PMID:7554451
RGD:7394829 , RGD:7394845
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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Thbs1
thrombospondin 1
ISS
OMIM:270150
MouseDO
NCBI chr 3:105,056,293...105,071,445
Ensembl chr 3:105,056,292...105,071,440
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Tnf
tumor necrosis factor
treatment
ISO IEP
DNA:polymorphism: :-1031T>C(human)
RGD
PMID:22703762 PMID:24941846
RGD:7394766 , RGD:10450595
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Tnfaip3
TNF alpha induced protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24097066 PMID:24097067
NCBI chr 1:13,709,211...13,724,291
Ensembl chr 1:13,709,206...13,725,282
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Tnfsf13b
TNF superfamily member 13b
ISS
OMIM:270150
MouseDO
NCBI chr16:79,462,406...79,492,888
Ensembl chr16:79,462,402...79,492,693
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Tnip1
TNFAIP3 interacting protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24097067
NCBI chr10:39,037,048...39,084,328
Ensembl chr10:39,037,058...39,077,625
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Traf3ip2
Traf3 interacting protein 2
ISS
OMIM:270150
MouseDO
NCBI chr20:43,011,405...43,054,654
Ensembl chr20:43,011,450...43,054,667
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Vim
vimentin
ISO
RGD
PMID:6352937
RGD:6480477
NCBI chr17:76,668,701...76,677,186
Ensembl chr17:76,668,647...76,677,187
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Vip
vasoactive intestinal peptide
ISO
RGD
PMID:22059987
RGD:5685375
NCBI chr 1:42,064,878...42,073,219
Ensembl chr 1:42,065,120...42,073,216
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Gstm1
glutathione S-transferase mu 1
susceptibility
ISO
DNA:deletion: :
RGD
PMID:10616008
RGD:5491001
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
G
Dusp1
dual specificity phosphatase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34697729
NCBI chr10:16,680,478...16,683,275
G
Il6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34697729
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
G
Lrp5
LDL receptor related protein 5
susceptibility
ISO
DNA:polymorphism:cds:p.Q89R(human)
RGD
PMID:17202888
RGD:12792278
NCBI chr 1:200,814,247...200,917,581
Ensembl chr 1:200,814,250...200,917,581
G
Mir337
microRNA 337
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34697729
NCBI chr 6:128,538,903...128,538,999
Ensembl chr 6:128,538,902...128,538,998
G
Skp2
S-phase kinase associated protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34697729
NCBI chr 2:58,161,226...58,189,293
Ensembl chr 2:58,161,229...58,189,338
G
Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34697729
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
G
Havcr2
hepatitis A virus cellular receptor 2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Subcutaneous panniculitis-like T-cell lymphoma
CTD OMIM ClinVar
PMID:25741868 PMID:30374066 PMID:30429576 PMID:30792187
NCBI chr10:30,882,484...30,914,018
Ensembl chr10:30,882,606...30,909,137
G
Ido1
indoleamine 2,3-dioxygenase 1
ISO
RGD
PMID:26914138
RGD:11529541
NCBI chr16:67,430,654...67,442,726
Ensembl chr16:67,430,578...67,442,730
G
Il6
interleukin 6
susceptibility
ISO
CTD Direct Evidence: marker/mechanism
CTD OMIM
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
G
Il6r
interleukin 6 receptor
treatment
ISO
RGD
PMID:18358927
RGD:10402823
NCBI chr 2:175,289,157...175,347,719
Ensembl chr 2:175,298,686...175,347,536
G
Mif
macrophage migration inhibitory factor
susceptibility
ISO
CTD Direct Evidence: marker/mechanism
OMIM CTD
NCBI chr20:12,790,919...12,791,784
Ensembl chr20:12,790,902...12,799,504
G
Ace
angiotensin I converting enzyme
ISO
protein:decreased expression:plasma
GAD RGD
PMID:15118671 PMID:17360781
RGD:1331525 , RGD:8548889
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
G
Acta2
actin alpha 2, smooth muscle
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24706986
NCBI chr 1:231,746,527...231,759,307
Ensembl chr 1:231,746,548...231,759,554
G
Adamts13
ADAM metallopeptidase with thrombospondin type 1 motif, 13
ISO
protein:decreased expression:plasma (human)
RGD
PMID:12935979
RGD:10449040
NCBI chr 3:10,299,264...10,338,464
Ensembl chr 3:10,300,028...10,346,687
G
Ager
advanced glycosylation end product-specific receptor
ISO
protein:increased expression:serum
RGD
PMID:18825489 PMID:18825489
RGD:8695973 , RGD:8695973
NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
G
Agt
angiotensinogen
ISO
protein:decreased expression:plasma
RGD
PMID:17360781
RGD:8548889
NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
G
Anxa5
annexin A5
severity
ISO
RGD
PMID:21124692
RGD:7242029
NCBI chr 2:119,314,007...119,344,703
Ensembl chr 2:119,314,007...119,353,369
G
Arpc2
actin related protein 2/3 complex, subunit 2
ISO
protein:increased expression:saliva (human)
RGD
PMID:17722226
RGD:11049167
NCBI chr 9:75,820,782...75,851,471
Ensembl chr 9:75,820,770...75,851,471
G
Bank1
B-cell scaffold protein with ankyrin repeats 1
susceptibility
ISO
DNA:SNPs: :rs10516487,rs17266594(human)
RGD
PMID:19815934
RGD:9684975
NCBI chr 2:224,530,475...224,800,420
Ensembl chr 2:224,530,475...224,800,405
G
Bdnf
brain-derived neurotrophic factor
ISO
protein:decreased expression:serum:
RGD
PMID:21085492
RGD:5144060
NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615
G
C3
complement C3
ISO
protein:increased expression:plasma
RGD
PMID:2803327
RGD:7421518
NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
G
Cav1
caveolin 1
susceptibility
ISO
DNA:SNPs:enhancer, intron: (rs7795356, rs926198, rs959173) (human) protein:decreased expression:lung, skin
RGD
PMID:22402147 PMID:18759267
RGD:8661768 , RGD:8661773
NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705
G
Ccl2
C-C motif chemokine ligand 2
severity
ISO
protein:increased expression:respiratory system fluid/secretion protein:increased expression:serum
RGD
PMID:19615053 PMID:21049277 PMID:21285114
RGD:4891453 , RGD:5135284 , RGD:5683876
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
G
Ccl20
C-C motif chemokine ligand 20
ISO
mRNA:increased expression:skin
RGD
PMID:21742595
RGD:7483587
NCBI chr 9:84,389,031...84,391,629
Ensembl chr 9:84,388,904...84,391,629
G
Ccl3
C-C motif chemokine ligand 3
ISO
protein:increased expression:serum
RGD
PMID:21285114
RGD:5683876
NCBI chr10:68,451,388...68,452,938
Ensembl chr10:68,451,388...68,452,938
G
Ccl4
C-C motif chemokine ligand 4
ISO
protein:increased expression:serum
RGD
PMID:21285114
RGD:5683876
NCBI chr10:68,466,394...68,468,229
Ensembl chr10:68,452,052...68,468,231
G
Ccn1
cellular communication network factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27482699
NCBI chr 2:234,562,410...234,565,370
Ensembl chr 2:234,562,408...234,565,484
G
Ccn2
cellular communication network factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24706986
NCBI chr 1:20,802,199...20,805,315
Ensembl chr 1:20,802,199...20,805,734
G
Ccr2
C-C motif chemokine receptor 2
ISO
RGD
PMID:23142052
RGD:9479741
NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
G
Ccr6
C-C motif chemokine receptor 6
ISO
mRNA:increased expression:skin
RGD
PMID:21742595
RGD:7483587
NCBI chr 1:52,474,477...52,508,301
Ensembl chr 1:52,474,168...52,498,603
G
Cd247
Cd247 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20383147
NCBI chr13:78,043,302...78,118,437
Ensembl chr13:78,043,307...78,122,263
G
Cd86
CD86 molecule
ISO
DNA:snp:5' utr:g.-3479T>G (human)
RGD
PMID:16790753
RGD:4892554
NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818
G
Cfb
complement factor B
ISO
protein:increased expression:plasma
RGD
PMID:2803327
RGD:7421518
NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505
G
Chi3l1
chitinase 3 like 1
ISO
protein:increased secretion:serum (human)
RGD
PMID:16195162
RGD:4892666
NCBI chr13:45,641,802...45,649,787
Ensembl chr13:45,641,802...45,649,787
G
Clu
clusterin
ISO
protein:increased expression:serum
RGD
PMID:22350181
RGD:8898558
NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315
G
Cnr1
cannabinoid receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27228633
NCBI chr 5:48,408,543...48,436,099
Ensembl chr 5:48,408,574...48,435,099
G
Cnr2
cannabinoid receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27228633
NCBI chr 5:148,125,222...148,151,548
Ensembl chr 5:148,125,604...148,151,548
G
Col1a1
collagen type I alpha 1 chain
ISO
RGD
PMID:1697606
RGD:5688336
NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
G
Col1a2
collagen type I alpha 2 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24706986
NCBI chr 4:32,563,938...32,598,868
Ensembl chr 4:32,563,381...32,598,867
G
Col3a1
collagen type III alpha 1 chain
ISS
OMIM:181750
MouseDO
NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547
G
Cp
ceruloplasmin
ISO
protein:increased expression:serum
RGD
PMID:32630589
RGD:401827129
NCBI chr 2:102,439,433...102,498,075
Ensembl chr 2:102,439,624...102,498,075
G
Csf1
colony stimulating factor 1
IEP
mRNA:increased expression:skin
RGD
PMID:22700848
RGD:7257593
NCBI chr 2:195,377,215...195,396,608
Ensembl chr 2:195,377,215...195,411,704
G
Cx3cl1
C-X3-C motif chemokine ligand 1
ISO
protein:increased expression:serum
RGD
PMID:15608300
RGD:4891898
NCBI chr19:10,227,337...10,237,826
Ensembl chr19:10,227,340...10,236,833
G
Cx3cr1
C-X3-C motif chemokine receptor 1
ISO
protein:increased expression:lung, skin DNA:polymorphisms: :p.V249I, p.T280M (human)
RGD
PMID:15608300 PMID:23142052 PMID:16584113
RGD:4891898 , RGD:9479741 , RGD:4891896
NCBI chr 8:119,785,726...119,799,431
Ensembl chr 8:119,782,595...119,800,014
G
Cxcl10
C-X-C motif chemokine ligand 10
ISO
protein:increased expression:serum
RGD
PMID:21303517 PMID:21049277
RGD:5135279 , RGD:5135284
NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
G
Cxcl16
C-X-C motif chemokine ligand 16
ISO
protein:increased expression:serum, skin, endothelial cell
RGD
PMID:21303517
RGD:5135279
NCBI chr10:55,166,721...55,171,316
Ensembl chr10:55,166,723...55,171,592
G
Cxcl9
C-X-C motif chemokine ligand 9
ISO
protein:increased expression:serum
RGD
PMID:21303517 PMID:21049277
RGD:5135279 , RGD:5135284
NCBI chr14:15,722,868...15,727,779
Ensembl chr14:15,722,908...15,728,435
G
Cxcr3
C-X-C motif chemokine receptor 3
ISO
protein:decreased expression:skin, endothelial cell
RGD
PMID:21303517
RGD:5135279
NCBI chr X:66,844,318...66,846,969
Ensembl chr X:66,844,318...66,846,969
G
Cxcr6
C-X-C motif chemokine receptor 6
ISO
protein:increased expression:skin, endothelial cell
RGD
PMID:21303517
RGD:5135279
NCBI chr 8:123,434,417...123,439,568
Ensembl chr 8:123,416,325...123,439,526
G
Edn1
endothelin 1
ISO
protein:increased secretion:plasma (human)
RGD
PMID:7653485
RGD:4145072
NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
G
Eln
elastin
ISO
RGD
PMID:22563211
RGD:9585742
NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928
G
Esr1
estrogen receptor 1
susceptibility
ISO
DNA:SNP:intron:
RGD
PMID:19032828
RGD:8553058
NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002
G
Esr2
estrogen receptor 2
no_association
ISO
DNA:SNP:exon:
RGD
PMID:19032828
RGD:8553058
NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919
G
F11r
F11 receptor
ISO
RGD
PMID:19153103
RGD:7488918
NCBI chr13:83,873,797...83,897,388
Ensembl chr13:83,873,797...83,897,402
G
F2
coagulation factor II, thrombin
ISO
protein:increased expression:plasma:
RGD
PMID:9374919
RGD:11565087
NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
G
Fbn1
fibrillin 1
susceptibility
ISO ISS
OMIM:181750 DNA:insertion:5' utr
MouseDO RGD
PMID:11123012 PMID:10395706 PMID:12384286
RGD:7387265 , RGD:12910471 , RGD:12904889
NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
G
Fli1
Fli-1 proto-oncogene, ETS transcription factor
ISS
OMIM:181750
MouseDO
NCBI chr 8:30,831,422...30,950,468
Ensembl chr 8:30,832,753...30,950,433
G
Flt4
Fms related receptor tyrosine kinase 4
ISO
protein:increased expression:skin:
RGD
PMID:21865112
RGD:8552335
NCBI chr10:33,913,725...33,954,770
Ensembl chr10:33,913,608...33,954,770
G
Fosl2
FOS like 2, AP-1 transcription factor subunit
ISS
OMIM:181750
MouseDO
NCBI chr 6:24,297,898...24,319,219
Ensembl chr 6:24,300,956...24,320,034
G
Fstl1
follistatin-like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27482699
NCBI chr11:62,895,391...62,948,581
Ensembl chr11:62,779,783...62,948,677
G
Gpx3
glutathione peroxidase 3
ISO
protein:decreased expression:serum
RGD
PMID:32630589
RGD:401827129
NCBI chr10:39,028,624...39,036,695
Ensembl chr10:39,028,570...39,037,035
G
Gstm1
glutathione S-transferase mu 1
susceptibility
ISO
DNA:missense mutation:cds:p.K173N (human)
RGD
PMID:15135176
RGD:12798510
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
G
Hdac5
histone deacetylase 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27482699
NCBI chr10:87,152,978...87,187,921
Ensembl chr10:87,152,978...87,188,235
G
Hgf
hepatocyte growth factor
treatment severity
ISO
protein:increased expression:serum: mRNA:increased expression:skin:
RGD
PMID:17049072 PMID:24387171 PMID:22286923
RGD:8548624 , RGD:8548659 , RGD:8548651
NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409
G
Hmgb1
high mobility group box 1
ISO
protein:increased expression:serum
RGD
PMID:18825489
RGD:8695973
NCBI chr12:5,972,950...5,979,658
Ensembl chr12:5,901,586...5,978,565 Ensembl chr16:5,901,586...5,978,565
G
Hnrnpl
heterogeneous nuclear ribonucleoprotein L
ISO
RGD
PMID:21569507
RGD:9999440
NCBI chr 1:84,098,558...84,111,568
Ensembl chr 1:84,100,879...84,111,553
G
Icam1
intercellular adhesion molecule 1
disease_progression
ISO
protein:increased expression:blood
RGD
PMID:18759276 PMID:8099861 PMID:1371389
RGD:8158120 , RGD:8547587 , RGD:8547576
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
G
Ifng
interferon gamma
treatment
ISO
RGD
PMID:1418004
RGD:8157622
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
G
Igfbp3
insulin-like growth factor binding protein 3
ISO
protein:increased expression:serum:
RGD
PMID:19004037
RGD:12743606
NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083
G
Il13
interleukin 13
no_association
ISO
mRNA, protein:increased expression:skin DNA:SNPs:promoter, cds:-1112C>T, p.R130Q (rs1800925, rs20541) (human) protein:increased expression:serum
RGD
PMID:15564778 PMID:22045834 PMID:9034992
RGD:5684370 , RGD:8549502 , RGD:5684371
NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
G
Il13ra1
interleukin 13 receptor subunit alpha 1
no_association
ISO
DNA:SNP:intron:43163G>A (rs6646259) (human)
RGD
PMID:22045834
RGD:8549502
NCBI chr X:115,348,822...115,408,682
Ensembl chr X:115,348,860...115,408,681 Ensembl chr11:115,348,860...115,408,681
G
Il17a
interleukin 17A
ISO
protein:increased expression:epidermis, endodermis, mast cell (human)
RGD
PMID:22833167 PMID:23335253
RGD:8696037 , RGD:8696038
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
G
Il1b
interleukin 1 beta
susceptibility
ISO
DNA:polymorphisms:promoter:-31T>C,-511C>T (human)
RGD
PMID:17444587
RGD:4142872
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
G
Il1r1
interleukin 1 receptor type 1
ISO
RGD
PMID:1375465
RGD:8662902
NCBI chr 9:42,504,917...42,580,958
Ensembl chr 9:42,504,735...42,579,937
G
Il2
interleukin 2
ISO
protein:increased expression:serum:
RGD
PMID:2213757
RGD:8663482
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
G
Il23r
interleukin 23 receptor
no_association
ISO
DNA:SNPs: :rs11209026, rs11465804 (human) DNA:SNPs: :rs11209032,rs1495965(human)
RGD
PMID:19918037 PMID:18713787
RGD:5096624 , RGD:8549603
NCBI chr 4:96,580,568...96,672,540
Ensembl chr 4:96,580,714...96,674,021
G
Il27
interleukin 27
ISO
protein:increased expression:serum
RGD
PMID:20705635
RGD:5128477
NCBI chr 1:181,173,108...181,178,720
Ensembl chr 1:181,173,372...181,178,582
G
Il27ra
interleukin 27 receptor subunit alpha
ISO
mRNA:increased expression:skin
RGD
PMID:20705635
RGD:5128477
NCBI chr19:24,109,963...24,121,977
Ensembl chr19:24,109,972...24,121,938
G
Il4
interleukin 4
ISO
protein:increased expression:serum mRNA, protein:increased expression, splice variant:blood, mononuclear cell, plasma
RGD
PMID:9034992 PMID:10473513
RGD:5684371 , RGD:7829819
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
G
Il6
interleukin 6
treatment
ISO
RGD
PMID:23406616
RGD:12792238
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
G
Irf5
interferon regulatory factor 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20383147
NCBI chr 4:58,127,577...58,140,665
Ensembl chr 4:58,127,640...58,139,267
G
Jam3
junctional adhesion molecule 3
ISO
protein:increased expression:skin protein:decreased expression:skin, endothelial cell
RGD
PMID:23001478 PMID:19439502
RGD:7488920 , RGD:7488937
NCBI chr 8:25,508,461...25,569,306
Ensembl chr 8:25,507,057...25,569,355
G
Kdr
kinase insert domain receptor
ISO
protein:decreased expression:bone marrow: protein:increased expression:skin:
RGD
PMID:22271757 PMID:21865112
RGD:8551843 , RGD:8552335
NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
G
Lta
lymphotoxin alpha
susceptibility
ISO
DNA:SNP:intron:252A>G (human)
RGD
PMID:10600011
RGD:8548796
NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859
G
Mmp1
matrix metallopeptidase 1
severity
ISO
mRNA:decreased expression:skin protein:increased expression:serum
RGD
PMID:22286923 PMID:12051403
RGD:8548651 , RGD:8693663
NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
G
Mmp3
matrix metallopeptidase 3
severity
ISO
protein:increased expression:serum
RGD
PMID:12051403 PMID:15498049
RGD:8693663 , RGD:8693674
NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961
G
Mmp9
matrix metallopeptidase 9
ISO
RGD
PMID:15642145
RGD:1580577
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
G
Muc1
mucin 1, cell surface associated
ISO
protein:increased expression:serum
RGD
PMID:19286849
RGD:4143496
NCBI chr 2:174,635,989...174,640,738
Ensembl chr 2:174,635,995...174,640,733
G
Nat2
N-acetyltransferase 2
susceptibility
ISO
DNA:polymorphism: :
RGD
PMID:10599336
RGD:5147680
NCBI chr16:22,207,362...22,238,513
Ensembl chr16:22,208,194...22,238,520
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Nectin2
nectin cell adhesion molecule 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27482699
NCBI chr 1:79,372,123...79,407,379
Ensembl chr 1:79,372,119...79,407,360
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Ngf
nerve growth factor
ISO
protein:increased expression:serum
RGD
PMID:21085492
RGD:5144060
NCBI chr 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452
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Notch4
notch receptor 4
ISO
DNA: SNPs: non-coding :multiple
RGD
PMID:21779181
RGD:6480691
NCBI chr20:4,160,362...4,184,466
Ensembl chr20:4,160,445...4,184,465
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Pecam1
platelet and endothelial cell adhesion molecule 1
ISO
protein:decreased expression:superficial vasculature (human)
RGD
PMID:20228226
RGD:11541095
NCBI chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116
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Pf4
platelet factor 4
severity
ISO
RGD
PMID:34556381
RGD:329901818
NCBI chr14:17,298,304...17,299,220
Ensembl chr14:17,298,308...17,299,365
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
RGD
PMID:21979415
RGD:5508306
NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
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Ptpn22
protein tyrosine phosphatase, non-receptor type 22
no_association
ISO
DNA: snp: cds: rs2476601 DNA:missense mutation:cds:p.R620W (rs2476601) (human)
RGD
PMID:21131644 PMID:16464986
RGD:6484551 , RGD:7829741
NCBI chr 2:191,366,761...191,414,782
Ensembl chr 2:191,366,808...191,414,779
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Rbp4
retinol binding protein 4
disease_progression
ISO
associated with Raynaud disease and interstitial lung disease; protein:decreased expression:blood serum (human)
RGD
PMID:22211766
RGD:329845579
NCBI chr 1:235,893,917...235,901,315
Ensembl chr 1:235,893,917...235,901,399
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Rhob
ras homolog family member B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21750679
NCBI chr 6:31,363,752...31,365,926
Ensembl chr 6:31,363,548...31,366,108
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RT1-Ba
RT1 class II, locus Ba
susceptibility
ISO
DNA:polymorphism::HLA-DQA1*0501;
RGD
PMID:11014350
RGD:8547725
NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
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RT1-Bb
RT1 class II, locus Bb
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20383147
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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S1pr5
sphingosine-1-phosphate receptor 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29033951
NCBI chr 8:19,786,676...19,791,862
Ensembl chr 8:19,786,663...19,791,795
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Selenop
selenoprotein P
ISO
protein:decreased expression:serum
RGD
PMID:32630589
RGD:401827129
NCBI chr 2:52,498,123...52,508,409
Ensembl chr 2:52,498,339...52,508,852
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Serpine1
serpin family E member 1
ISO
protein:increased expression:dermis,microvessel:
RGD
PMID:26414805
RGD:11343779
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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Serpinf2
serpin family F member 2
ISO
protein:increased expression:plasma
RGD
PMID:12595617
RGD:1625530
NCBI chr10:60,272,400...60,280,506
Ensembl chr10:60,272,400...60,281,243
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Sirt1
sirtuin 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:25707573
NCBI chr20:25,307,225...25,329,273
Ensembl chr20:25,306,917...25,329,260
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Sirt7
sirtuin 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25707573
NCBI chr10:105,896,476...105,903,301
Ensembl chr10:105,896,476...105,903,172
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Slc11a1
solute carrier family 11 member 1
ISO
DNA:repeat, polymorphism:promoter, intron: (human)
RGD
PMID:17876529
RGD:5684940
NCBI chr 9:75,957,193...75,968,115
Ensembl chr 9:75,957,316...75,968,101
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Stat4
signal transducer and activator of transcription 4
susceptibility
ISO
DNA:SNP:intron: (rs7574865) (human) CTD Direct Evidence: marker/mechanism DNA:SNP:intron: (rs11889341) (human)
CTD RGD
PMID:20383147 PMID:19644887 PMID:19950257
RGD:8661700 , RGD:8661711
NCBI chr 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540
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Tgfbr1
transforming growth factor, beta receptor 1
ISS
OMIM:181750
MouseDO
NCBI chr 5:61,653,773...61,710,777
Ensembl chr 5:61,653,233...61,710,777
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Tnip1
TNFAIP3 interacting protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21750679
NCBI chr10:39,037,048...39,084,328
Ensembl chr10:39,037,058...39,077,625
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Vegfa
vascular endothelial growth factor A
ISO
protein:increased expression:skin protein:increased expression:bone marrow: protein:increased expression:serum: mRNA,protein:increased expression:skin:
RGD
PMID:16426919 PMID:22271757 PMID:24387171 PMID:21636803
RGD:5684416 , RGD:8551843 , RGD:8548659 , RGD:7421579
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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Vwf
von Willebrand factor
severity
ISO
RGD
PMID:22596213
RGD:7205639
NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539
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Atf6
activating transcription factor 6
IEP
mRNA,protein:increased expression:chondrocyte
RGD
PMID:31007149
RGD:34888237
NCBI chr13:82,927,579...83,106,381
Ensembl chr13:82,930,034...83,107,177
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Becn1
beclin 1
IEP
RGD
PMID:31007149
RGD:34888237
NCBI chr10:86,231,387...86,246,742
Ensembl chr10:86,231,388...86,246,742
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Casp12
caspase 12
IEP
mRNA,protein:increased expression:chondrocyte
RGD
PMID:31007149
RGD:34888237
NCBI chr 8:2,642,296...2,669,549
Ensembl chr 8:2,642,434...2,674,037
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Ddit3
DNA-damage inducible transcript 3
IEP
mRNA,protein:increased expression:chondrocyte
RGD
PMID:31007149
RGD:34888237
NCBI chr 7:63,115,645...63,121,203
Ensembl chr 7:63,116,380...63,121,201
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Dll4
delta like canonical Notch ligand 4
disease_progression
IEP
RGD
PMID:28147322
RGD:155791443
NCBI chr 3:106,317,114...106,327,004
Ensembl chr 3:106,316,986...106,326,931
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Eif2ak3
eukaryotic translation initiation factor 2 alpha kinase 3
IEP
mRNA,protein:increased expression:chondrocyte
RGD
PMID:31007149
RGD:34888237
NCBI chr 4:102,805,495...102,866,914
Ensembl chr 4:102,805,510...102,866,911
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Ern1
endoplasmic reticulum to nucleus signaling 1
IEP
RGD
PMID:31007149
RGD:34888237
NCBI chr10:91,326,889...91,421,201
Ensembl chr10:91,330,654...91,421,029
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Fas
Fas cell surface death receptor
IEP
mRNA:increased expression:mandibular condyle, cartilage (rat)
RGD
PMID:23934157
RGD:8663479
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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Hspa5
heat shock protein family A (Hsp70) member 5
IEP
mRNA,protein:increased expression:chondrocyte
RGD
PMID:31007149
RGD:34888237
NCBI chr 3:18,055,507...18,059,969
Ensembl chr 3:18,055,405...18,059,891
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Map1lc3b
microtubule-associated protein 1 light chain 3 beta
IEP
RGD
PMID:31007149
RGD:34888237
NCBI chr19:49,665,795...49,673,655
Ensembl chr19:49,665,791...49,677,690
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Rps6
ribosomal protein S6
IEP
RGD
PMID:31007149
RGD:34888237
NCBI chr 5:101,371,716...101,374,576
Ensembl chr 5:101,371,136...101,374,602 Ensembl chr 5:101,371,136...101,374,602
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