rheumatic disease - Ontology Report - Rat Genome Database

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RGD DISEASE ONTOLOGY - ANNOTATIONS

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

Term:	rheumatic disease	go back to main search page
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.

show annotations for term's descendants Sort by:
Rat (787) Mouse (720) Human (7279) Chinchilla (645) Bonobo (701) Dog (692) Squirrel (665) Pig (685) Green Monkey (686) Naked Mole-rat (654) All
Genes (716) QTL (42) Strains (29)

adult-onset Still's disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

hepatocyte growth factor

protein:increased expression:serum:

RGD

NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409

G

vascular endothelial growth factor A

protein:increased expression:serum:

RGD

NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641

Beukes hip dysplasia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ankyrin repeat domain 37

ClinVar Annotator: match by term: Hip dysplasia, Beukes type

NCBI chr16:46,268,933...46,271,971
Ensembl chr16:46,268,443...46,271,963

G

cilia and flagella associated protein 96

ClinVar Annotator: match by term: Hip dysplasia, Beukes type | ClinVar Annotator: match by term: Osteoarthropathy, premature degenerative, of hip

PMID:25741868 PMID:28492532 PMID:33473208

NCBI chr16:46,291,075...46,315,616
Ensembl chr16:46,291,311...46,315,625

G

UFM1-specific peptidase 2

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 More...

NCBI chr16:46,272,016...46,291,080
Ensembl chr16:46,272,016...46,291,059

CREST syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

centromere protein C

associated with Anticentromere antibody positivity

RGD

NCBI chr14:21,988,067...22,046,732
Ensembl chr14:21,988,144...22,055,476

G

fibrillin 1

RGD

NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889

diffuse scleroderma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adiponectin, C1Q and collagen domain containing

severity

protein:decreased expression:serum

RGD

NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564

G

angiotensinogen

protein:increased expression:serum

RGD

NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977

G

B-cell scaffold protein with ankyrin repeats 1

susceptibility

DNA:SNPs: :rs10516487,rs17266594,rs3733197(human)

RGD

NCBI chr 2:224,530,475...224,800,420
Ensembl chr 2:224,530,475...224,800,405

G

caveolin 1

susceptibility
no_association

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

G

C-X-C motif chemokine ligand 6

RGD

NCBI chr14:17,310,790...17,312,250
Ensembl chr14:17,310,426...17,313,093

G

Fc gamma receptor 2A

RGD

NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967

G

interleukin 10

protein:increased expression:serum

RGD

NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313

G

interleukin 13

DNA:SNPs:5' utr, enhancer: (rs1800925, rs2243204) (human)

RGD

NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737

G

interleukin 6

treatment

RGD

NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178

G

interleukin-1 receptor-associated kinase 1

susceptibility

DNA:missense mutation:cds:p.F196S (rs1059702) (human)

RGD

NCBI chr X:151,768,621...151,778,521
Ensembl chr X:151,768,777...151,778,521

G

kinase insert domain receptor

protein:increased expression:serum:

RGD

NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018

G

RT1 class II, locus Ba

susceptibility

DNA:polymorphism::HLA-DQA1*0501;

RGD

NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744

G

signal transducer and activator of transcription 4

susceptibility
no_association

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

G

transporter 1, ATP binding cassette subfamily B member

susceptibility

RGD

NCBI chr20:4,656,262...4,666,634
Ensembl chr20:4,656,263...4,666,901

G

transporter 2, ATP binding cassette subfamily B member

susceptibility

RGD

NCBI chr20:4,636,347...4,650,387
Ensembl chr20:4,636,357...4,650,407

G

transforming growth factor, beta receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:61,653,773...61,710,777
Ensembl chr 5:61,653,233...61,710,777

G

toll-like receptor 2

disease_progression

DNA:polymorphism:cds:p.P631H(rs5743704)(human)

RGD

NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630

G

WRN RecQ like helicase

RGD

NCBI chr16:58,763,517...58,898,604
Ensembl chr16:58,763,504...58,895,450

Digital Arthropathy-Brachydactyly, Familial

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

transient receptor potential cation channel, subfamily V, member 4

ClinVar Annotator: match by term: Familial digital arthropathy-brachydactyly
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:4056805 PMID:8179305 PMID:11891693 PMID:20037586 PMID:20037587 More...

NCBI chr12:41,938,533...41,977,517
Ensembl chr12:41,938,560...41,977,517

disabling pansclerotic morphea

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

signal transducer and activator of transcription 4

ClinVar Annotator: match by term: Disabling pansclerotic morphea of childhood | ClinVar Annotator: match by term: STAT4-related condition

PMID:25741868 PMID:28492532 PMID:37256972

NCBI chr 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540

erythema nodosum

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

complement C3

associated with Leprosy

RGD

NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429

G

complement factor B

associated with Leprosy

RGD

NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505

G

glutathione S-transferase mu 1

susceptibility

associated with Behcet Syndrome;DNA:deletion:: (human)

RGD

NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411

G

lymphotoxin alpha

associated with Sarcoidosis;DNA:polymorphism:intron

RGD

NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859

G

RT1 class I, locus CE13

associated with Inflammatory Bowel Diseases; DNA:polymorphisms:cds:multiple (human)

RGD

NCBI chr20:3,314,830...3,318,106

G

tumor necrosis factor

susceptibility

associated with Inflammatory Bowel Diseases;DNA:polymorphisms: :-1031T>C(human)

RGD

NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629

G

vitamin D receptor

susceptibility

associated with Behcet Syndrome;DNA:polymorphism: : rs7975232(human)

RGD

NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677

fibromyalgia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

catalase

protein:decreased activity:mononuclear cell:

RGD

NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478

G

C-C motif chemokine ligand 2

protein:decreased expression:plasma

RGD

NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226

G

catechol-O-methyltransferase

severity

DNA:polymorphism:cds:p.V158M(human)

RGD

NCBI chr11:82,568,052...82,587,642
Ensembl chr11:82,568,025...82,587,642

G

interleukin 1 receptor antagonist

severity

protein:increased expression:serum (human)

RGD

NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445

Hand Osteoarthritis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

estrogen receptor 1

no_association

DNA:SNPs:exons: (rs2077647, rs1801132) (human)

RGD

NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002

G

estrogen receptor 2

no_association

DNA:SNPs:introns: (rs1256034, rs1256059, rs944460) (human)

RGD

NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919

G

interleukin 4

no_association

DNA:SNPs:promoter, 5' utr, intron:multiple

RGD

NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750

G

interleukin 4 receptor

no_association

DNA:SNPs:promoter, exons:multiple

RGD

NCBI chr 1:180,115,061...180,139,981
Ensembl chr 1:180,115,120...180,139,980

Juvenile Pauciarticular Chronic Arthritis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

RT1 class II, locus Db1

susceptibility

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

RGD

NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258

juvenile rheumatoid arthritis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

acid phosphatase 3

CTD Direct Evidence: marker/mechanism

NCBI chr 8:104,905,570...104,956,146
Ensembl chr 8:104,905,586...104,954,236

G

acrosin binding protein

CTD Direct Evidence: marker/mechanism

NCBI chr 4:157,851,149...157,864,211
Ensembl chr 4:157,841,841...157,864,213

G

adenylate cyclase 7

CTD Direct Evidence: marker/mechanism

NCBI chr19:18,740,875...18,798,924
Ensembl chr19:18,740,875...18,776,311

G

arachidonate 12-lipoxygenase, 12S type

CTD Direct Evidence: marker/mechanism

NCBI chr10:54,958,263...54,970,542
Ensembl chr10:54,958,271...54,970,542

G

ankyrin repeat domain 9

CTD Direct Evidence: marker/mechanism

NCBI chr 6:130,001,914...130,008,792
Ensembl chr 6:129,998,486...130,008,923

G

aminopeptidase O

CTD Direct Evidence: marker/mechanism

NCBI chr17:1,811,281...2,127,316
Ensembl chr17:1,811,980...2,127,331

G

aquaporin 9

CTD Direct Evidence: marker/mechanism

NCBI chr 8:71,797,231...71,837,485
Ensembl chr 8:71,797,234...71,837,395

G

amphiregulin

CTD Direct Evidence: marker/mechanism

NCBI chr14:16,972,185...16,981,443
Ensembl chr14:16,972,187...16,981,535

G

ArfGAP with SH3 domain, ankyrin repeat and PH domain 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:95,786,130...96,093,111
Ensembl chr 7:95,787,818...96,092,754

G

AVL9 cell migration associated

CTD Direct Evidence: marker/mechanism

NCBI chr 4:85,961,493...86,008,347
Ensembl chr 4:85,961,635...86,008,791

G

beta-1,4-galactosyltransferase 5

CTD Direct Evidence: marker/mechanism

NCBI chr 3:156,018,056...156,033,983
Ensembl chr 3:156,018,053...156,070,074

G

BEN domain containing 2

CTD Direct Evidence: marker/mechanism

NCBI chr X:33,401,122...33,465,427

G

bridge-like lipid transfer protein family member 3B

CTD Direct Evidence: marker/mechanism

NCBI chr 7:24,181,635...24,261,720
Ensembl chr 7:24,181,644...24,261,720

G

BTG anti-proliferation factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:31,341,391...31,343,649
Ensembl chr 7:31,341,027...31,343,649

G

BTG anti-proliferation factor 3

CTD Direct Evidence: marker/mechanism

NCBI chr11:17,030,156...17,046,069
Ensembl chr11:17,030,160...17,046,170

G

complement C8 beta chain

CTD Direct Evidence: marker/mechanism

NCBI chr 5:119,535,009...119,572,565
Ensembl chr 5:119,535,146...119,572,565

G

similar to human chromosome 2 open reading frame 88

CTD Direct Evidence: marker/mechanism

NCBI chr 9:48,539,140...48,584,882
Ensembl chr 9:48,568,409...48,584,831

G

caldesmon 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:63,265,781...63,446,938
Ensembl chr 4:63,265,942...63,446,932

G

calmodulin regulated spectrin-associated protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:8,746,176...8,806,067
Ensembl chr 3:8,746,176...8,806,072

G

coiled-coil domain containing 122

ClinVar Annotator: match by term: JUVENILE ARTHRITIS

NCBI chr15:52,407,717...52,470,163
Ensembl chr15:52,407,717...52,470,163

G

C-C motif chemokine receptor 5

no_association

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

G

CD14 molecule

CTD Direct Evidence: marker/mechanism

NCBI chr18:28,335,522...28,337,383
Ensembl chr18:28,335,340...28,337,261

G

CD83 molecule

CTD Direct Evidence: marker/mechanism

NCBI chr17:20,887,309...20,907,009
Ensembl chr17:20,887,309...20,907,083

G

CD8 subunit beta

CTD Direct Evidence: marker/mechanism

NCBI chr 4:103,312,596...103,328,523
Ensembl chr 4:103,312,578...103,328,553

G

class II, major histocompatibility complex, transactivator

susceptibility
no_association

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

G

clusterin

CTD Direct Evidence: marker/mechanism

NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315

G

CKLF-like MARVEL transmembrane domain containing 2B

CTD Direct Evidence: marker/mechanism

NCBI chr19:640,838...651,872
Ensembl chr19:640,824...651,939

G

cAMP responsive element modulator

CTD Direct Evidence: marker/mechanism

NCBI chr17:54,238,889...54,305,989
Ensembl chr17:54,239,030...54,305,989

G

C-reactive protein

protein:increased expression:serum

RGD

NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178

G

cytotoxic T-lymphocyte-associated protein 4

CTD Direct Evidence: marker/mechanism

NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963

G

cortactin

CTD Direct Evidence: marker/mechanism

NCBI chr 1:199,599,710...199,635,254
Ensembl chr 1:199,599,710...199,635,164

G

C-X-C motif chemokine ligand 1

CTD Direct Evidence: marker/mechanism

NCBI chr14:17,193,364...17,195,143
Ensembl chr14:17,193,365...17,195,215

G

C-X-C motif chemokine ligand 3

CTD Direct Evidence: marker/mechanism

NCBI chr14:17,287,727...17,289,451
Ensembl chr14:17,270,146...17,289,511

G

C-X-C motif chemokine receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 9:75,729,493...75,735,868
Ensembl chr 9:75,729,115...75,739,425

G

C-X-C motif chemokine receptor 4

CTD Direct Evidence: marker/mechanism

PMID:19565504 PMID:26387944

NCBI chr13:40,077,976...40,081,883
Ensembl chr13:40,077,976...40,081,883

G

death associated protein kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr17:3,930,223...4,090,991
Ensembl chr17:3,930,213...4,090,991

G

DNA-damage inducible transcript 3

CTD Direct Evidence: marker/mechanism

NCBI chr 7:63,115,645...63,121,203
Ensembl chr 7:63,116,380...63,121,201

G

dual specificity phosphatase 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:16,680,478...16,683,275

G

dual specificity phosphatase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 3:114,556,325...114,558,510
Ensembl chr 3:114,556,325...114,558,499

G

dual specificity phosphatase 4

CTD Direct Evidence: marker/mechanism

NCBI chr16:57,376,659...57,398,161
Ensembl chr16:57,377,229...57,398,138

G

dysferlin

CTD Direct Evidence: marker/mechanism

NCBI chr 4:116,490,877...116,690,709
Ensembl chr 4:116,490,616...116,690,709

G

epidermal growth factor

CTD Direct Evidence: marker/mechanism

NCBI chr 2:218,219,408...218,302,359
Ensembl chr 2:218,219,415...218,302,064

G

early growth response 1

CTD Direct Evidence: marker/mechanism

NCBI chr18:26,462,967...26,466,766
Ensembl chr18:26,462,981...26,466,766

G

E74 like ETS transcription factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 2:135,292,291...135,385,942
Ensembl chr 2:135,294,906...135,385,947

G

ethanolamine kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:176,126,056...176,170,325
Ensembl chr 4:176,126,180...176,193,770

G

ETS variant transcription factor 6

CTD Direct Evidence: marker/mechanism

NCBI chr 4:166,849,031...167,085,211
Ensembl chr 4:166,847,686...167,084,992

G

FAM20A, golgi associated secretory pathway pseudokinase

CTD Direct Evidence: marker/mechanism

NCBI chr10:94,638,836...94,697,814
Ensembl chr10:94,642,850...94,697,672

G

fatty acid hydroxylase domain containing 2

CTD Direct Evidence: marker/mechanism

NCBI chr10:42,245,808...42,271,679
Ensembl chr10:42,246,868...42,271,871

G

Fc gamma receptor 1A

CTD Direct Evidence: marker/mechanism

NCBI chr 2:183,851,075...183,860,077
Ensembl chr 2:183,851,077...183,859,994

G

FCH and double SH3 domains 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:155,444,471...155,685,350
Ensembl chr 1:155,444,460...155,685,539

G

Fos proto-oncogene, AP-1 transcription factor subunit

CTD Direct Evidence: marker/mechanism

NCBI chr 6:105,121,170...105,124,036
Ensembl chr 6:105,121,170...105,124,036

G

FosB proto-oncogene, AP-1 transcription factor subunit

CTD Direct Evidence: marker/mechanism

NCBI chr 1:78,954,312...78,961,492
Ensembl chr 1:78,954,115...78,961,465

G

FOS like 2, AP-1 transcription factor subunit

CTD Direct Evidence: marker/mechanism

NCBI chr 6:24,297,898...24,319,219
Ensembl chr 6:24,300,956...24,320,034

G

forkhead box P1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:131,559,599...132,155,092
Ensembl chr 4:131,564,756...132,112,258

G

growth arrest and DNA-damage-inducible, alpha

CTD Direct Evidence: marker/mechanism

NCBI chr 4:96,154,789...96,157,091
Ensembl chr 4:96,154,789...96,157,115

G

guanosine monophosphate reductase

CTD Direct Evidence: marker/mechanism

NCBI chr17:19,151,820...19,189,626
Ensembl chr17:19,151,815...19,189,621

G

G protein subunit gamma 11

CTD Direct Evidence: marker/mechanism

NCBI chr 4:32,023,003...32,028,443
Ensembl chr 4:32,023,003...32,028,442

G

glycoprotein Ib platelet subunit beta

CTD Direct Evidence: marker/mechanism

NCBI chr11:82,378,216...82,379,393
Ensembl chr11:82,378,199...82,379,392

G

glutathione S-transferase theta 1

susceptibility

DNA:deletion: :

RGD

NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585

G

H2B clustered histone 8

CTD Direct Evidence: marker/mechanism

NCBI chr17:42,708,658...42,709,408

G

heparin-binding EGF-like growth factor

CTD Direct Evidence: marker/mechanism

NCBI chr18:28,106,284...28,116,167
Ensembl chr18:28,105,760...28,116,441

G

HERPUD family member 2

CTD Direct Evidence: marker/mechanism

NCBI chr 8:23,573,374...23,618,380
Ensembl chr 8:23,573,379...23,617,874

G

homeostatic iron regulator

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

RGD

NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502

G

histone cluster 1 H2A family member F

CTD Direct Evidence: marker/mechanism

NCBI chr17:41,379,404...41,379,796
Ensembl chr17:41,379,404...41,379,796

G

heat shock protein family A (Hsp70) member 6 like, pseudogene 1

CTD Direct Evidence: marker/mechanism

NCBI chr13:83,273,176...83,274,317

G

heat shock protein family D (Hsp60) member 1

protein:increased expression:serum,synovial fluid:

RGD

NCBI chr 9:56,579,195...56,590,011
Ensembl chr 9:56,579,201...56,589,662

G

insulin-like growth factor 1 receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777

G

interleukin 1 alpha

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

RGD

NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822

G

interleukin 1 receptor antagonist

CTD Direct Evidence: marker/mechanism

NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445

G

interleukin 2

protein:increased expression:mononuclear cell

RGD

NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566

G

interleukin 6

protein:increased expression:serum:

RGD

NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178

G

integrin subunit alpha 2b

CTD Direct Evidence: marker/mechanism

NCBI chr10:87,408,532...87,426,055
Ensembl chr10:87,408,536...87,426,168

G

integrin subunit beta 5

CTD Direct Evidence: marker/mechanism

NCBI chr11:66,828,428...66,944,231
Ensembl chr11:66,829,285...66,944,472

G

jumonji domain containing 1C

CTD Direct Evidence: marker/mechanism

NCBI chr20:21,332,147...21,494,220
Ensembl chr20:21,332,147...21,463,122

G

Jun proto-oncogene, AP-1 transcription factor subunit

CTD Direct Evidence: marker/mechanism

NCBI chr 5:109,894,175...109,897,268
Ensembl chr 5:109,893,145...109,897,656

G

lysine acetyltransferase 6B

CTD Direct Evidence: marker/mechanism

NCBI chr15:2,638,885...2,811,977
Ensembl chr15:2,639,200...2,812,316

G

potassium inwardly-rectifying channel, subfamily J, member 15

CTD Direct Evidence: marker/mechanism

NCBI chr11:34,577,397...34,621,725
Ensembl chr11:34,577,363...34,621,952

G

KLF transcription factor 4

CTD Direct Evidence: marker/mechanism

NCBI chr 5:70,278,843...70,283,751
Ensembl chr 5:70,278,972...70,283,602

G

KRAS proto-oncogene, GTPase

CTD Direct Evidence: marker/mechanism

NCBI chr 4:178,185,418...178,218,484

G

laccase domain containing 1

ClinVar Annotator: match by term: JUVENILE ARTHRITIS

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

NCBI chr15:52,390,267...52,407,630
Ensembl chr15:52,395,183...52,407,545

G

leukocyte immunoglobulin like receptor A5

CTD Direct Evidence: marker/mechanism

NCBI chr 1:69,973,292...69,978,750
Ensembl chr 1:69,973,292...70,001,718

G

LIM domain containing preferred translocation partner in lipoma

CTD Direct Evidence: marker/mechanism

NCBI chr11:75,787,326...76,426,646
Ensembl chr11:75,797,078...76,422,597

G

mitotic arrest deficient 1 like 1

CTD Direct Evidence: marker/mechanism

NCBI chr12:14,320,892...14,630,750
Ensembl chr12:14,320,892...14,630,703

G

MAF bZIP transcription factor F

CTD Direct Evidence: marker/mechanism

NCBI chr 7:110,912,367...110,923,711
Ensembl chr 7:110,912,499...110,923,851

G

mastermind-like transcriptional coactivator 2

CTD Direct Evidence: marker/mechanism

NCBI chr 8:10,268,611...10,588,307
Ensembl chr 8:10,268,665...10,587,107

G

microtubule-associated protein 2

CTD Direct Evidence: marker/mechanism

NCBI chr 9:67,723,422...67,981,886
Ensembl chr 9:67,723,371...67,979,809

G

mitogen activated protein kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr11:83,957,813...84,023,629
Ensembl chr11:83,957,813...84,023,616

G

mannose binding lectin 2

RGD

NCBI chr 1:228,016,439...228,024,736

G

mex-3 RNA binding family member C

CTD Direct Evidence: marker/mechanism

NCBI chr18:67,167,600...67,188,595
Ensembl chr18:67,166,718...67,188,595

G

membrane spanning 4-domains A4A

CTD Direct Evidence: marker/mechanism

NCBI chr 1:208,060,507...208,085,121
Ensembl chr 1:208,046,971...208,085,119

G

moesin

CTD Direct Evidence: marker/mechanism

NCBI chr X:60,996,043...61,064,011
Ensembl chr X:60,995,951...61,065,628

G

MTSS I-BAR domain containing 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:90,488,751...90,628,007
Ensembl chr 7:90,488,754...90,627,968

G

myocardial zonula adherens protein

CTD Direct Evidence: marker/mechanism

NCBI chr 8:72,155,817...72,243,036
Ensembl chr 8:72,131,530...72,243,036

G

nudE neurodevelopment protein 1-like 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:53,505,628...53,582,025
Ensembl chr10:53,516,491...53,570,907

G

nuclear receptor subfamily 4, group A, member 2

CTD Direct Evidence: marker/mechanism

NCBI chr 3:41,689,847...41,707,036
Ensembl chr 3:41,689,851...41,697,877

G

nuclear receptor subfamily 4, group A, member 3

CTD Direct Evidence: marker/mechanism

NCBI chr 5:62,361,588...62,401,489
Ensembl chr 5:62,361,822...62,402,733

G

neuregulin 1

CTD Direct Evidence: marker/mechanism

NCBI chr16:59,250,658...60,304,519
Ensembl chr16:59,250,854...60,296,884

G

oxidized low density lipoprotein receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:162,926,436...162,949,057
Ensembl chr 4:162,926,439...162,948,523

G

oncostatin M

CTD Direct Evidence: marker/mechanism

NCBI chr14:79,103,638...79,108,500
Ensembl chr14:79,104,344...79,108,313

G

protein kinase C and casein kinase substrate in neurons 2

CTD Direct Evidence: marker/mechanism

NCBI chr 7:114,505,525...114,599,087
Ensembl chr 7:114,505,152...114,598,546

G

phosphate cytidylyltransferase 1B, choline

CTD Direct Evidence: marker/mechanism

NCBI chr X:58,378,090...58,471,623
Ensembl chr X:58,378,116...58,468,935

G

period circadian regulator 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:53,800,126...53,814,963
Ensembl chr10:53,805,535...53,814,431

G

phosphoglucomutase 5

CTD Direct Evidence: marker/mechanism

NCBI chr 1:222,325,638...222,513,434
Ensembl chr 1:222,325,643...222,513,437

G

plasminogen activator, urokinase receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 1:80,053,440...80,068,384
Ensembl chr 1:80,050,324...80,068,595

G

polo-like kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 2:41,969,176...41,974,945
Ensembl chr 2:41,969,176...41,974,947

G

procollagen lysine, 2-oxoglutarate 5-dioxygenase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 8:93,084,548...93,167,255
Ensembl chr 8:93,084,513...93,167,255

G

protein S

CTD Direct Evidence: marker/mechanism

NCBI chr11:230,597...311,288
Ensembl chr11:230,696...311,286

G

protein tyrosine phosphatase, non-receptor type 22

DNA: snp : cds : rs2476601

RGD

NCBI chr 2:191,366,761...191,414,782
Ensembl chr 2:191,366,808...191,414,779

G

R3H domain containing 2

CTD Direct Evidence: marker/mechanism

NCBI chr 7:63,212,519...63,340,574
Ensembl chr 7:63,232,346...63,340,540

G

RasGEF domain family, member 1B

CTD Direct Evidence: marker/mechanism

NCBI chr14:9,859,512...10,380,044
Ensembl chr14:9,860,247...10,379,741

G

RNA binding motif protein 47

CTD Direct Evidence: marker/mechanism

NCBI chr14:42,053,290...42,191,572
Ensembl chr14:42,154,142...42,189,431

G

arginine-glutamic acid dipeptide repeats

CTD Direct Evidence: marker/mechanism

NCBI chr 5:160,765,855...161,097,678
Ensembl chr 5:160,765,934...161,097,677

G

similar to RIKEN cDNA 3110043O21

CTD Direct Evidence: marker/mechanism

NCBI chr 5:49,766,340...49,791,434
Ensembl chr 5:49,766,325...49,791,408

G

Rho-related BTB domain containing 1

CTD Direct Evidence: marker/mechanism

NCBI chr20:19,327,142...19,456,121
Ensembl chr20:19,327,155...19,403,012

G

ring finger protein 103

CTD Direct Evidence: marker/mechanism

NCBI chr 4:103,526,456...103,542,529
Ensembl chr 4:103,526,502...103,555,919

G

RT1 class II, locus Ba

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 class II, locus Bb

DNA:polymorphism (human)

RGD

NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597

G

RT1 class II, locus Db1

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

selectin P

severity

protein:increased expression:plasma

RGD

NCBI chr13:76,476,229...76,511,846
Ensembl chr13:76,476,295...76,511,845

G

SH2 domain containing 2A

RGD

NCBI chr 2:173,312,253...173,318,810
Ensembl chr 2:173,312,253...173,318,810

G

SH3 domain binding glutamate-rich protein like 2

CTD Direct Evidence: marker/mechanism

NCBI chr 8:84,461,019...84,553,124
Ensembl chr 8:84,461,121...84,551,564

G

salt-inducible kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr20:9,949,407...9,959,036
Ensembl chr20:9,947,396...9,958,991

G

signal-induced proliferation-associated 1 like 1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:101,839,351...102,118,408
Ensembl chr 6:101,839,404...102,116,950

G

solute carrier family 11 member 1

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

CTD
RGD

PMID:16597321 PMID:10857800

NCBI chr 9:75,957,193...75,968,115
Ensembl chr 9:75,957,316...75,968,101

G

solute carrier family 22 member 16

CTD Direct Evidence: marker/mechanism

NCBI chr20:43,972,808...44,068,447
Ensembl chr20:43,972,836...44,065,019

G

solute carrier family 26 member 2

susceptibility

DNA:SNPs: :

RGD

NCBI chr18:54,648,276...54,666,627
Ensembl chr18:54,652,951...54,666,626

G

solute carrier family 2 member 3

CTD Direct Evidence: marker/mechanism

NCBI chr 4:155,960,944...156,026,000
Ensembl chr 4:155,960,946...156,025,472

G

SMAD family member 3

CTD Direct Evidence: marker/mechanism

NCBI chr 8:64,126,829...64,236,960
Ensembl chr 8:64,110,039...64,236,960

G

stabilin 1

CTD Direct Evidence: marker/mechanism

NCBI chr16:6,330,435...6,360,934
Ensembl chr16:6,330,444...6,360,923

G

signal transducer and activator of transcription 3

CTD Direct Evidence: marker/mechanism

NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057

G

stromal interaction molecule 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:156,656,246...156,818,777
Ensembl chr 1:156,656,013...156,818,363

G

transcription factor 7 like 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:254,785,956...254,978,967
Ensembl chr 1:254,786,091...254,978,967

G

transcription factor Dp-1

CTD Direct Evidence: marker/mechanism

NCBI chr16:76,162,040...76,200,871
Ensembl chr16:76,162,043...76,200,817

G

tissue factor pathway inhibitor

CTD Direct Evidence: marker/mechanism

NCBI chr 3:69,533,156...69,582,547
Ensembl chr 3:69,533,156...69,576,880

G

thrombomodulin

protein:increased expression:serum

RGD

NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193

G

thrombospondin 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:105,056,293...105,071,445
Ensembl chr 3:105,056,292...105,071,440

G

TNF alpha induced protein 6

CTD Direct Evidence: marker/mechanism

NCBI chr 3:36,502,250...36,521,652
Ensembl chr 3:36,502,188...36,521,649

G

TNF alpha induced protein 8

CTD Direct Evidence: marker/mechanism

NCBI chr18:43,183,854...43,299,512
Ensembl chr18:43,183,916...43,299,517

G

tumor necrosis factor receptor superfamily, member 22

CTD Direct Evidence: marker/mechanism

NCBI chr 1:198,840,452...198,860,713
Ensembl chr 1:198,840,453...198,856,309

G

TRAF2 and NCK interacting kinase

CTD Direct Evidence: marker/mechanism

NCBI chr 2:111,184,352...111,587,993
Ensembl chr 2:111,184,387...111,580,750

G

triggering receptor expressed on myeloid cells-like 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:12,635,584...12,642,324
Ensembl chr 9:12,635,590...12,642,347

G

tubulin tyrosine ligase like 5

CTD Direct Evidence: marker/mechanism

NCBI chr 6:105,483,091...105,700,920
Ensembl chr 6:105,483,191...105,700,934

G

tubulin, beta 2A class IIa

CTD Direct Evidence: marker/mechanism

NCBI chr17:30,796,842...30,800,713
Ensembl chr17:30,747,503...30,800,714

G

ubiquitin-conjugating enzyme E2E 1

CTD Direct Evidence: marker/mechanism

NCBI chr15:7,439,751...7,493,410
Ensembl chr15:7,439,759...7,493,400

G

ubiquitin protein ligase E3C

CTD Direct Evidence: marker/mechanism

NCBI chr 4:5,648,932...5,749,922
Ensembl chr 4:5,648,690...5,750,011

G

WASP family member 3

CTD Direct Evidence: marker/mechanism

NCBI chr12:8,563,805...8,660,799
Ensembl chr12:8,562,062...8,660,751

G

WW domain-containing oxidoreductase

CTD Direct Evidence: marker/mechanism

NCBI chr19:42,432,141...43,360,278
Ensembl chr19:42,432,152...43,359,391

G

zinc finger AN1-type containing 3

CTD Direct Evidence: marker/mechanism

NCBI chr20:8,083,407...8,279,617
Ensembl chr20:8,082,200...8,279,616

G

zinc finger, C3H1-type containing

CTD Direct Evidence: marker/mechanism

NCBI chr 7:51,008,251...51,064,666
Ensembl chr 7:51,007,984...51,064,661

Knee Osteoarthritis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

annexin A2

disease_progression

protein:increased expression:chondrocyte:

RGD

NCBI chr 8:70,105,268...70,141,663
Ensembl chr 8:70,105,253...70,141,658

G

annexin A5

disease_progression

protein:increased expression:chondrocyte:

RGD

NCBI chr 2:119,314,007...119,344,703
Ensembl chr 2:119,314,007...119,353,369

G

androgen receptor

DNA:repeat:exon:c.172(CAG)8-34 (human)

RGD

NCBI chr X:63,104,771...63,273,934
Ensembl chr X:63,104,771...63,273,925

G

asporin

severity

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

beta-2 microglobulin

protein:increased expression:serum

RGD

NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766

G

BCL2 associated X, apoptosis regulator

treatment

RGD

NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368

G

BCL2, apoptosis regulator

treatment

RGD

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

bone gamma-carboxyglutamate protein

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

C-C motif chemokine receptor 2

mRNA,protein:increased expression:dorsal root ganglion:

RGD

NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100

G

CD36 molecule

disease_progression

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

G

catenin beta 1

protein:increased expression:cartilage:

RGD

NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111

G

cytochrome P450, family 19, subfamily a, polypeptide 1

DNA:SNP:intron, 5' utr: (rs1062033) (human)

RGD

NCBI chr 8:54,552,978...54,580,375
Ensembl chr 8:54,553,165...54,580,758

G

discoidin domain receptor tyrosine kinase 2

ameliorates

RGD

NCBI chr13:82,193,623...82,318,229
Ensembl chr13:82,195,463...82,317,363

G

diacylglycerol O-acyltransferase 2

severity

mRNA,protein:increased expression:fat pad:

RGD

NCBI chr 1:153,454,078...153,484,432
Ensembl chr 1:153,454,080...153,484,428

G

dickkopf WNT signaling pathway inhibitor 1

RGD

NCBI chr 1:228,381,521...228,385,202
Ensembl chr 1:228,381,521...228,385,202

G

eukaryotic translation elongation factor 1 alpha 1

RGD

NCBI chr 8:79,341,554...79,344,784
Ensembl chr 8:79,341,557...79,344,839

G

EGF containing fibulin extracellular matrix protein 1

protein:increased expression:serum:

RGD

NCBI chr14:102,610,813...102,690,027
Ensembl chr14:102,610,908...102,690,018

G

endothelial PAS domain protein 1

no_association

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

erythropoietin

treatment

RGD

NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946

G

estrogen receptor 1

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

estrogen receptor 2

DNA:repeat:intron:c.1092+3607(CA)13-27 (human)

RGD

NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919

G

coagulation factor II, thrombin

RGD

NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486

G

fibroblast growth factor receptor 3

treatment

RGD

NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341

G

growth differentiation factor 5

CTD Direct Evidence: marker/mechanism

NCBI chr 3:144,454,316...144,458,508
Ensembl chr 3:144,454,338...144,458,612

G

glutathione-disulfide reductase

protein:increased expression:synovial fluid

RGD

NCBI chr16:58,482,209...58,525,256
Ensembl chr16:58,482,505...58,525,661

G

high mobility group box 1

severity

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

high mobility group box 2

severity

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
Ensembl chr 1:32,710,658...32,713,140

G

heat shock protein 90 alpha family class A member 1

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

insulin-like growth factor 1

disease_progression
severity

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

insulin-like growth factor 1 receptor

RGD

NCBI chr 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777

G

interleukin 1 alpha

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

interleukin 2

severity

protein:increased expression:synovial fluid:

RGD

NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566

G

interleukin 4

susceptibility

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

Klotho

susceptibility

DNA:SNPs:promoter,exon:395G>A,2998C>T(human)

RGD

NCBI chr12:490,402...531,417
Ensembl chr12:490,399...530,080

G

leptin

protein:decreased expression:serum:

RGD

NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262

G

leptin receptor

susceptibility

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

lysophosphatidic acid receptor 1

susceptibility

DNA:snp:promoter:g.-2820G>A (rs10980705) (human)

RGD

NCBI chr 5:73,229,047...73,347,874
Ensembl chr 5:73,229,625...73,369,895

G

latent transforming growth factor beta binding protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:20,029,629...20,425,339
Ensembl chr 6:20,029,629...20,425,349

G

microRNA 219a-1

CTD Direct Evidence: therapeutic

NCBI chr20:4,829,687...4,829,796
Ensembl chr20:4,829,687...4,829,796

G

microRNA 223

RNA:increased expression:synovial membrane

RGD

NCBI chr X:61,141,887...61,141,996
Ensembl chr X:61,141,887...61,141,996

G

matrix metallopeptidase 1

treatment

RGD

NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097

G

matrix metallopeptidase 13

ameliorates

RGD

NCBI chr 8:4,497,960...4,508,239
Ensembl chr 8:4,497,960...4,508,239

G

matrix metallopeptidase 3

treatment

RGD

NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961

G

proenkephalin

treatment

RGD

NCBI chr 5:17,183,799...17,189,160
Ensembl chr 5:17,183,806...17,189,129

G

prostaglandin E synthase

RGD

NCBI chr 3:14,177,892...14,189,236

G

strawberry notch homolog 1

CTD Direct Evidence: marker/mechanism

NCBI chr12:32,175,176...32,234,200
Ensembl chr12:32,185,485...32,230,158

G

solute carrier family 26 member 2

susceptibility

DNA:deletion:promoter:-716_-713del4A(human)

RGD

NCBI chr18:54,648,276...54,666,627
Ensembl chr18:54,652,951...54,666,626

G

transforming growth factor alpha

protein:increased expression:cartilage

RGD

NCBI chr 4:118,618,043...118,700,897
Ensembl chr 4:118,618,269...118,700,894

G

vitamin D receptor

GAD

NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677

G

WW domain containing E3 ubiquitin protein ligase 2

CTD Direct Evidence: marker/mechanism

NCBI chr19:35,346,826...35,471,251
Ensembl chr19:35,346,814...35,472,699

limited scleroderma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

caveolin 1

susceptibility
no_association

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

C-C motif chemokine ligand 2

mRNA,protein:increased expression:skin:

RGD

NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226

G

C-C motif chemokine receptor 2

mRNA,protein:increased expression:skin:

RGD

NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100

G

Fas cell surface death receptor

RGD

NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591

G

Fas ligand

RGD

NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215

G

interleukin 2

susceptibility

DNA:polymorphism::-384T>G(human)

RGD

NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566

G

Janus kinase 2

RGD

NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189

G

kinase insert domain receptor

protein:increased expression:serum:

RGD

NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018

G

placental growth factor

protein:increased expression:plasma

RGD

NCBI chr 6:104,816,102...104,826,685
Ensembl chr 6:104,816,104...104,826,685

G

serpin family E member 1

mRNA,protein:increased expression:skin:

RGD

NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657

G

signal transducer and activator of transcription 4

no_association
susceptibility

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

transporter 2, ATP binding cassette subfamily B member

susceptibility

RGD

NCBI chr20:4,636,347...4,650,387
Ensembl chr20:4,636,357...4,650,407

Lipodermatosclerosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

collagen type I alpha 1 chain

mRNA:increased expression:dermis

RGD

NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624

localized scleroderma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cyclin-dependent kinase inhibitor 1A

mRNA,protein:increased expression:skin:

RGD

NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585

G

colony stimulating factor 3

CTD Direct Evidence: therapeutic

NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603

G

hepatocyte growth factor

treatment

RGD

NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409

G

intercellular adhesion molecule 1

protein:increased expression:serum

RGD

NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438

G

interleukin 13

protein:increased expression:serum

RGD

NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737

G

lamin A/C

CTD Direct Evidence: marker/mechanism

NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423

G

matrix metallopeptidase 1

RGD

NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097

G

transforming growth factor, beta 1

RGD

NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847

G

tumor necrosis factor

CTD Direct Evidence: marker/mechanism

NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629

Nakajo Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

proteasome 20S subunit beta 8

ClinVar Annotator: match by term: Nodular erythema digital changes

PMID:20159315 PMID:20534754 PMID:21129723 PMID:21953331 PMID:25741868 More...

NCBI chr20:4,652,159...4,655,122
Ensembl chr20:4,652,159...4,655,283

nodular nonsuppurative panniculitis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

serpin family A member 1

CTD Direct Evidence: marker/mechanism

PMID:3259592 PMID:6982619

NCBI chr 6:122,866,314...122,888,339
Ensembl chr 6:122,866,312...122,888,339

osteoarthritis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

acetyl-CoA acyltransferase 2

CTD Direct Evidence: marker/mechanism

NCBI chr18:68,345,136...68,373,246
Ensembl chr18:68,345,012...68,373,249

G

aggrecan

treatment

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

aconitase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:55,259,841...55,315,872
Ensembl chr 5:55,259,827...55,316,391

G

actin, beta

CTD Direct Evidence: marker/mechanism

NCBI chr12:11,663,112...11,666,697
Ensembl chr12:11,663,109...11,672,877

G

ADAM metallopeptidase domain 12

susceptibility

RGD

NCBI chr 1:188,686,984...189,014,206
Ensembl chr 1:188,686,989...189,020,667

G

ADAM metallopeptidase domain 15

RGD

NCBI chr 2:174,754,629...174,765,136
Ensembl chr 2:174,754,633...174,765,113

G

ADAM metallopeptidase with thrombospondin type 1 motif, 14

DNA:missense mutation:cds: (rs4747096) (human)

RGD

NCBI chr20:29,143,029...29,219,846
Ensembl chr20:29,144,354...29,219,866

G

ADAM metallopeptidase with thrombospondin type 1 motif, 4

treatment

associated with Bone Diseases, Metabolic

RGD

NCBI chr13:83,670,556...83,680,045
Ensembl chr13:83,670,183...83,680,065

G

ADAM metallopeptidase with thrombospondin type 1 motif, 5

treatment
disease_progression
no_association

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 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

G

adhesion G protein-coupled receptor G2

CTD Direct Evidence: marker/mechanism

NCBI chr X:34,297,402...34,422,590
Ensembl chr X:34,297,402...34,422,609

G

advanced glycosylation end product-specific receptor

treatment

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:16948116 PMID:23894457

NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078

G

adenylate kinase 4

CTD Direct Evidence: marker/mechanism

NCBI chr 5:116,039,222...116,099,064
Ensembl chr 5:116,039,616...116,098,618

G

aldo-keto reductase family 1, member C1

CTD Direct Evidence: marker/mechanism

NCBI chr17:65,810,474...65,837,385
Ensembl chr17:65,810,475...65,837,326

G

aldo-keto reductase family 1, member C2

CTD Direct Evidence: marker/mechanism

NCBI chr17:65,759,778...65,808,013
Ensembl chr17:65,759,788...65,775,764

G

aldehyde dehydrogenase 1 family, member A2

CTD Direct Evidence: marker/mechanism

NCBI chr 8:71,877,850...71,957,107
Ensembl chr 8:71,877,850...71,957,107

G

asporin

no_association
susceptibility

DNA:repeats:exon:
CTD Direct Evidence: marker/mechanism

NCBI chr17:15,079,910...15,104,369
Ensembl chr17:15,080,639...15,104,041

G

ATPase Na+/K+ transporting subunit alpha 3

CTD Direct Evidence: marker/mechanism

NCBI chr 1:80,572,790...80,601,936
Ensembl chr 1:80,572,796...80,601,918

G

ATPase H+ transporting V1 subunit B2

CTD Direct Evidence: marker/mechanism

NCBI chr16:20,617,515...20,641,651
Ensembl chr16:20,617,518...20,641,745

G

ATPase copper transporting alpha

OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:612400

NCBI chr X:71,094,144...71,201,550
Ensembl chr X:71,094,202...71,198,354

G

BCL2-associated agonist of cell death

RGD

NCBI chr 1:204,133,502...204,142,829
Ensembl chr 1:204,131,501...204,142,823

G

BAG cochaperone 6

susceptibility

DNA:SNP: :rs3117582(human)

RGD

NCBI chr20:3,675,938...3,690,414
Ensembl chr20:3,675,938...3,688,657

G

BCL2 associated X, apoptosis regulator

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

G

BCL2, apoptosis regulator

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

G

beclin 1

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

G

bone gamma-carboxyglutamate protein

disease_progression

RGD

NCBI chr 2:173,838,518...173,839,495
Ensembl chr 2:173,838,518...173,839,495

G

bone morphogenetic protein 2

susceptibility

RGD

NCBI chr 3:120,812,660...120,822,579
Ensembl chr 3:120,812,882...120,821,397

G

bone morphogenetic protein 4

CTD Direct Evidence: marker/mechanism

NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306

G

bone morphogenetic protein 6

CTD Direct Evidence: marker/mechanism

NCBI chr17:26,318,121...26,469,691
Ensembl chr17:26,318,569...26,470,365

G

bone morphogenetic protein 7

OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:610839 | OMIM:612400 | OMIM:612401

NCBI chr 3:161,639,915...161,716,938
Ensembl chr 3:161,516,462...161,716,788

G

bone morphogenetic protein receptor type 1A

OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:610839 | OMIM:612400 | OMIM:612401

NCBI chr16:9,736,390...9,829,825
Ensembl chr16:9,736,630...9,780,616

G

calcitonin-related polypeptide alpha

CTD Direct Evidence: marker/mechanism

NCBI chr 1:168,878,212...168,883,176
Ensembl chr 1:168,878,214...168,883,105

G

caspase 3

treatment

RGD

NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648

G

caspase 9

treatment

RGD

NCBI chr 5:154,108,872...154,126,628
Ensembl chr 5:154,109,046...154,126,626

G

caveolin 1

RGD

NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705

G

C-C motif chemokine ligand 22

protein:increased expression:plasma:

RGD

NCBI chr19:10,257,602...10,264,373
Ensembl chr19:10,257,601...10,264,400

G

C-C motif chemokine receptor 4

protein:increased expression:synovial membrane:

RGD

NCBI chr 8:114,176,291...114,182,033
Ensembl chr 8:114,176,974...114,178,056

G

CD36 molecule

susceptibility

RGD

NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903

G

cyclin-dependent kinase inhibitor 2A

treatment

RGD

NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149

G

CCAAT/enhancer binding protein beta

susceptibility

RGD

NCBI chr 3:156,398,035...156,399,466
Ensembl chr 3:156,397,052...156,399,473

G

chitinase 3 like 1

CTD Direct Evidence: marker/mechanism

NCBI chr13:45,641,802...45,649,787
Ensembl chr13:45,641,802...45,649,787

G

cartilage intermediate layer protein

disease_progression

RGD

NCBI chr 8:65,777,281...65,792,251
Ensembl chr 8:65,777,281...65,792,251

G

C-type lectin domain family 3, member B

disease_progression

RGD

NCBI chr 8:122,810,120...122,815,837
Ensembl chr 8:122,810,149...122,815,835

G

chloride intracellular channel 1

CTD Direct Evidence: marker/mechanism

NCBI chr20:3,764,867...3,773,711
Ensembl chr20:3,761,461...3,773,712

G

chloride intracellular channel 4

CTD Direct Evidence: marker/mechanism

NCBI chr 5:147,453,702...147,513,455
Ensembl chr 5:147,453,712...147,513,452

G

clusterin

CTD Direct Evidence: marker/mechanism

PMID:17568789 PMID:18784066

NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315

G

collagen type XI alpha 1 chain

OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:610839 | OMIM:612400 | OMIM:612401

NCBI chr 2:201,820,715...202,013,853
Ensembl chr 2:201,820,715...202,013,853

G

collagen type I alpha 1 chain

no_association

DNA:SNP:intron:IVS1

RGD

NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624

G

collagen type I alpha 2 chain

CTD Direct Evidence: marker/mechanism

NCBI chr 4:32,563,938...32,598,868
Ensembl chr 4:32,563,381...32,598,867

G

collagen type II alpha 1 chain

onset
treatment

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

G

collagen type VI alpha 2 chain

CTD Direct Evidence: marker/mechanism

NCBI chr20:12,021,676...12,049,425
Ensembl chr20:12,021,767...12,057,564

G

collagen type IX alpha 1 chain

OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:610839 | OMIM:612400 | OMIM:612401

NCBI chr 9:26,585,034...26,668,222
Ensembl chr 9:26,585,034...26,668,213

G

cartilage oligomeric matrix protein

CTD Direct Evidence: marker/mechanism

NCBI chr16:19,047,206...19,055,584
Ensembl chr16:19,047,207...19,055,845

G

cathepsin D

CTD Direct Evidence: marker/mechanism

NCBI chr 1:197,527,467...197,539,343
Ensembl chr 1:197,527,467...197,539,488

G

cathepsin K

CTD Direct Evidence: marker/mechanism

NCBI chr 2:183,058,586...183,069,551
Ensembl chr 2:183,058,569...183,069,550

G

C-X-C motif chemokine ligand 2

CTD Direct Evidence: marker/mechanism

NCBI chr14:17,181,030...17,183,075
Ensembl chr14:17,181,062...17,183,075

G

C-X-C motif chemokine ligand 6

CTD Direct Evidence: marker/mechanism

NCBI chr14:17,310,790...17,312,250
Ensembl chr14:17,310,426...17,313,093

G

dual adaptor of phosphotyrosine and 3-phosphoinositides 1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:226,425,890...226,475,445
Ensembl chr 2:226,425,898...226,475,423

G

discoidin domain receptor tyrosine kinase 2

disease_progression

RGD

NCBI chr13:82,193,623...82,318,229
Ensembl chr13:82,195,463...82,317,363

G

DEAD-box helicase 3, X-linked

CTD Direct Evidence: marker/mechanism

NCBI chr X:9,479,532...9,493,169
Ensembl chr X:9,479,532...9,493,168

G

dipeptidase 1

CTD Direct Evidence: marker/mechanism

NCBI chr19:51,209,831...51,237,004
Ensembl chr19:51,219,660...51,235,257

G

dihydropyrimidinase-like 2

CTD Direct Evidence: marker/mechanism

NCBI chr15:41,005,551...41,111,724
Ensembl chr15:41,005,551...41,111,829

G

EGF like repeats and discoidin domains 3

CTD Direct Evidence: marker/mechanism

NCBI chr 2:19,890,396...20,405,028
Ensembl chr 2:19,890,373...20,405,008

G

eukaryotic translation elongation factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 7:8,533,248...8,538,518
Ensembl chr 7:8,533,116...8,559,183

G

EGF containing fibulin extracellular matrix protein 2

mRNA:increased expression:articular cartilage of joint (rat)

RGD

NCBI chr 1:202,781,692...202,789,784
Ensembl chr 1:202,781,665...202,789,414

G

early growth response 1

RGD

NCBI chr18:26,462,967...26,466,766
Ensembl chr18:26,462,981...26,466,766

G

enolase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:160,719,951...160,731,337
Ensembl chr 5:160,719,951...160,731,336
Ensembl chr 3:160,719,951...160,731,336

G

ectonucleotide pyrophosphatase/phosphodiesterase 1

OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:610839 | OMIM:612400 | OMIM:612401

NCBI chr 1:20,698,746...20,763,741
Ensembl chr 1:20,698,764...20,763,715

G

endothelial PAS domain protein 1

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

G

ERCC excision repair 1, endonuclease non-catalytic subunit

mRNA:decreased expression:knee, articular cartilage of joint

RGD

NCBI chr 1:78,971,310...79,007,963
Ensembl chr 1:78,996,390...79,007,963

G

ETS transcription factor ERG

OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:610839 | OMIM:612400 | OMIM:612401

NCBI chr11:34,678,614...34,900,951
Ensembl chr11:34,678,618...34,845,871

G

ERBB receptor feedback inhibitor 1

OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:610839 | OMIM:612400 | OMIM:612401

NCBI chr 5:161,323,981...161,337,289
Ensembl chr 5:161,323,998...161,337,282

G

esterase D

CTD Direct Evidence: marker/mechanism

NCBI chr15:50,043,634...50,063,134
Ensembl chr15:50,043,632...50,063,144

G

estrogen receptor 1

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

G

estrogen receptor 2

DNA:SNP:intron: (rs1256031) (human)

RGD

NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919

G

electron transfer flavoprotein subunit alpha

CTD Direct Evidence: marker/mechanism

NCBI chr 8:55,835,115...55,891,890
Ensembl chr 8:55,835,134...55,891,969

G

ezrin

CTD Direct Evidence: marker/mechanism

NCBI chr 1:46,967,961...47,011,505
Ensembl chr 1:46,967,658...47,011,505

G

Fc gamma receptor 2A

RGD

NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967

G

fibroblast growth factor 18

CTD Direct Evidence: marker/mechanism

NCBI chr10:17,706,011...17,737,702
Ensembl chr10:17,706,174...17,736,818

G

Fibroblast growth factor receptor 1

RGD

NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350

G

Fms related receptor tyrosine kinase 1

mRNA:increased expression:trabecular bone:

RGD

NCBI chr12:7,296,899...7,468,626
Ensembl chr12:7,297,292...7,468,626

G

fibronectin 1

protein:increased expression:cartilage:

RGD

NCBI chr 9:73,196,044...73,264,695
Ensembl chr 9:73,196,044...73,264,678

G

frizzled-related protein

susceptibility

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

ferritin light chain 1

CTD Direct Evidence: marker/mechanism

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
Ensembl chr 2:95,936,387...95,939,725

G

glyceraldehyde-3-phosphate dehydrogenase

CTD Direct Evidence: marker/mechanism

NCBI chr 4:157,962,312...157,967,158
Ensembl chr 4:157,962,343...157,966,235

G

growth differentiation factor 5

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

G

growth hormone 1

protein:increased expression:plasma

RGD

NCBI chr10:91,228,102...91,230,079
Ensembl chr10:91,228,103...91,230,078

G

growth hormone receptor

DNA:deletion:exon:

RGD

NCBI chr 2:52,541,452...52,804,960
Ensembl chr 2:52,542,594...52,804,735

G

glutaminase

CTD Direct Evidence: marker/mechanism

NCBI chr 9:49,344,616...49,416,900
Ensembl chr 9:49,344,781...49,416,900

G

glutathione S-transferase kappa 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:71,118,979...71,123,298
Ensembl chr 4:71,118,896...71,123,292

G

hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha

CTD Direct Evidence: marker/mechanism

NCBI chr 6:26,187,969...26,227,605
Ensembl chr 6:26,187,956...26,227,869

G

HMG-box transcription factor 1

RGD

NCBI chr 6:48,529,633...48,555,775
Ensembl chr 6:48,529,372...48,555,787

G

homeostatic iron regulator

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

RGD

NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502

G

3-hydroxyisobutyryl-CoA hydrolase

CTD Direct Evidence: marker/mechanism

NCBI chr 9:48,590,097...48,669,896
Ensembl chr 9:48,590,099...48,669,824

G

hypoxia inducible factor 1 subunit alpha

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

high mobility group box 1

RGD

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

isocitrate dehydrogenase (NADP(+)) 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025

G

isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha

CTD Direct Evidence: marker/mechanism

NCBI chr 8:54,971,694...54,991,085
Ensembl chr 8:54,971,740...54,991,084

G

interferon, alpha 1

treatment

RGD

NCBI chr 5:103,097,356...103,097,925
Ensembl chr 5:103,097,356...103,097,925

G

insulin-like growth factor 1

protein:decreased expression:blood:

RGD

NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296

G

insulin-like growth factor 1 receptor

severity

mRNA:increased expression:articular cartilage of joint:

RGD

NCBI chr 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777

G

insulin-like growth factor 2

mRNA:increased expression:cartilage

RGD

NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018

G

insulin-like growth factor binding protein 3

RGD

NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083

G

Indian hedgehog signaling molecule

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

G

interleukin 1 alpha

protein:increased expression:chonodrocyte:

RGD

NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822

G

interleukin 1 beta

treatment

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:21954917 PMID:37943572 PMID:22890185

NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415

G

interleukin 4 receptor

protein:increased expression:serum

RGD

NCBI chr 1:180,115,061...180,139,981
Ensembl chr 1:180,115,120...180,139,980

G

interleukin 5

RGD

NCBI chr10:37,874,342...37,877,213
Ensembl chr10:37,874,342...37,877,213

G

inner membrane mitochondrial protein

CTD Direct Evidence: marker/mechanism

NCBI chr 4:103,880,482...103,919,116
Ensembl chr 4:103,880,459...103,919,109

G

insulin 2

protein:increased expression:blood:

RGD

NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775

G

isochorismatase domain containing 2b

CTD Direct Evidence: marker/mechanism

NCBI chr 1:68,972,960...68,993,760
Ensembl chr 1:68,972,960...68,993,757

G

jagged canonical Notch ligand 1

RGD

NCBI chr 3:124,406,783...124,442,220
Ensembl chr 3:124,406,794...124,442,209

G

leptin

severity

protein:increased expression:tibia, cartilage, chondrocyte (human)

RGD

NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262

G

galectin 3

CTD Direct Evidence: marker/mechanism

NCBI chr15:20,620,083...20,632,019
Ensembl chr15:20,607,692...20,632,025

G

latent transforming growth factor beta binding protein 3

CTD Direct Evidence: marker/mechanism

PMID:11790802 PMID:12379497

NCBI chr 1:203,029,412...203,045,975
Ensembl chr 1:203,029,877...203,045,975

G

matrilin 3

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

G

microRNA 146a

mRNA:decreased expression:cartilage tissue (human)

RGD

NCBI chr10:27,848,516...27,848,610
Ensembl chr10:27,848,516...27,848,610

G

microRNA 34a

treatment

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

G

matrix metallopeptidase 1

protein:increased expression:plasma (human)

RGD

NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097

G

matrix metallopeptidase 13

treatment

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

G

matrix metallopeptidase 2

protein:increased expression:synovial fluid (human)

RGD

NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870

G

matrix metallopeptidase 3

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

G

matrix metallopeptidase 8

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

RGD

NCBI chr 8:4,724,009...4,733,864
Ensembl chr 8:4,724,029...4,733,520

G

matrix metallopeptidase 9

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

RGD

NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120

G

moesin

CTD Direct Evidence: marker/mechanism

NCBI chr X:60,996,043...61,064,011
Ensembl chr X:60,995,951...61,065,628

G

mechanistic target of rapamycin kinase

treatment

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

G

major vault protein

CTD Direct Evidence: marker/mechanism

NCBI chr 1:181,594,734...181,622,336
Ensembl chr 1:181,594,734...181,622,380

G

myosin heavy chain 13

CTD Direct Evidence: marker/mechanism

NCBI chr10:52,012,779...52,068,960
Ensembl chr10:52,009,425...52,068,951

G

myosin light chain 3

NCBI chr 8:110,738,669...110,744,814
Ensembl chr 8:110,738,661...110,744,816

G

N-acyl phosphatidylethanolamine phospholipase D

protein:increased expression:spinal cord

RGD

NCBI chr 4:13,360,532...13,398,815
Ensembl chr 4:13,361,006...13,398,748

G

nuclear receptor co-repressor 2

susceptibility

RGD

NCBI chr12:31,466,418...31,628,319
Ensembl chr12:31,466,412...31,628,319

G

NADH:ubiquinone oxidoreductase core subunit S8

CTD Direct Evidence: marker/mechanism

NCBI chr 1:201,140,585...201,144,573
Ensembl chr 1:201,140,585...201,144,511

G

NADH:ubiquinone oxidoreductase core subunit V1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:201,300,365...201,305,461
Ensembl chr 1:201,299,985...201,305,466

G

nuclear factor of activated T-cells 1

treatment

RGD

NCBI chr18:74,046,422...74,156,041
Ensembl chr18:74,046,904...74,156,028

G

nerve growth factor

treatment

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

G

NME/NM23 nucleoside diphosphate kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chr10:78,898,097...78,903,514
Ensembl chr10:78,897,770...78,903,538
Ensembl chr20:78,897,770...78,903,538

G

OPA1, mitochondrial dynamin like GTPase

CTD Direct Evidence: marker/mechanism

NCBI chr11:71,108,100...71,185,170
Ensembl chr11:71,109,873...71,185,109

G

prolyl 3-hydroxylase 3

CTD Direct Evidence: marker/mechanism

NCBI chr 4:157,646,242...157,662,035
Ensembl chr 4:157,646,243...157,662,035

G

programmed cell death 6 interacting protein

CTD Direct Evidence: marker/mechanism

NCBI chr 8:113,590,998...113,646,795
Ensembl chr 8:113,590,998...113,646,773

G

pyruvate dehydrogenase E1 subunit alpha 1

CTD Direct Evidence: marker/mechanism

NCBI chr X:34,700,481...34,714,309
Ensembl chr X:34,700,409...34,714,311

G

platelet and endothelial cell adhesion molecule 1

mRNA:increased expression:tibia (rat)

RGD

NCBI chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116

G

phosphoinositide-3-kinase regulatory subunit 1

mRNA:increased expression:cartilage tissue (human)

RGD

NCBI chr 2:32,878,942...32,963,668
Ensembl chr 2:32,882,032...32,963,631

G

phospholipase C, delta 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:118,795,196...118,818,186
Ensembl chr 8:118,795,201...118,818,186

G

procollagen lysine, 2-oxoglutarate 5-dioxygenase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 8:93,084,548...93,167,255
Ensembl chr 8:93,084,513...93,167,255

G

plastin 3

CTD Direct Evidence: marker/mechanism

NCBI chr X:111,589,193...111,683,908
Ensembl chr X:111,589,254...111,683,891

G

proopiomelanocortin

RGD

NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664

G

POU class 3 homeobox 3

CTD Direct Evidence: marker/mechanism

NCBI chr 9:44,945,872...44,948,998
Ensembl chr 9:44,945,872...44,948,992

G

peroxisome proliferator-activated receptor gamma

CTD Direct Evidence: marker/mechanism

NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468

G

protein phosphatase 2 scaffold subunit A alpha

CTD Direct Evidence: marker/mechanism

NCBI chr 1:60,540,223...60,559,467
Ensembl chr 1:60,540,194...60,560,129

G

proteasome 20S subunit beta 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:56,442,432...56,463,544
Ensembl chr 1:56,420,618...56,463,560

G

prostaglandin-endoperoxide synthase 2

susceptibility

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

CTD
RGD

PMID:32004530 PMID:15334463

NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188

G

RAN, member RAS oncogene family

CTD Direct Evidence: marker/mechanism

NCBI chr12:27,674,049...27,678,598
Ensembl chr12:27,674,050...27,678,276

G

reticulocalbin 3

CTD Direct Evidence: marker/mechanism

NCBI chr 1:95,564,503...95,573,762
Ensembl chr 1:95,564,380...95,573,725

G

RUNX family transcription factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 9:16,167,504...16,492,826
Ensembl chr 9:16,167,482...16,492,167

G

S100 calcium-binding protein A4

CTD Direct Evidence: marker/mechanism

NCBI chr 2:176,090,951...176,093,258
Ensembl chr 2:176,091,804...176,093,254

G

secernin 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:83,632,125...83,694,225
Ensembl chr 4:83,632,131...83,693,852

G

syndecan binding protein

CTD Direct Evidence: marker/mechanism

NCBI chr 5:19,473,499...19,517,188
Ensembl chr 5:19,489,961...19,527,572

G

succinate dehydrogenase complex flavoprotein subunit A

CTD Direct Evidence: marker/mechanism

NCBI chr 1:28,935,965...28,960,936
Ensembl chr 1:28,940,164...28,961,535

G

Sec23 homolog A, COPII coat complex component

CTD Direct Evidence: marker/mechanism

NCBI chr 6:76,658,793...76,706,125
Ensembl chr 6:76,658,427...76,706,035

G

serpin family A member 1

RGD

NCBI chr 6:122,866,314...122,888,339
Ensembl chr 6:122,866,312...122,888,339

G

sarcoglycan, gamma

CTD Direct Evidence: marker/mechanism

NCBI chr15:35,388,836...35,435,072
Ensembl chr15:35,386,534...35,435,148

G

solute carrier family 2 member 1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:132,717,196...132,745,416
Ensembl chr 5:132,717,196...132,745,416

G

SMAD family member 3

CTD Direct Evidence: marker/mechanism

PMID:21217753 PMID:22772368

NCBI chr 8:64,126,829...64,236,960
Ensembl chr 8:64,110,039...64,236,960

G

superoxide dismutase 2

CTD Direct Evidence: marker/mechanism

PMID:15292528 PMID:18784066 PMID:22108257

NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189

G

terminal nucleotidyltransferase 5A

susceptibility

DNA:repeats: :

RGD

NCBI chr 8:86,222,294...86,229,045
Ensembl chr 8:86,225,357...86,229,045

G

tissue factor pathway inhibitor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 4:31,981,786...31,986,707
Ensembl chr 4:31,982,178...31,986,600

G

transforming growth factor, beta 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847

G

transforming growth factor, beta receptor 1

OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:612400

NCBI chr 5:61,653,773...61,710,777
Ensembl chr 5:61,653,233...61,710,777

G

transglutaminase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 3:146,772,684...146,801,924
Ensembl chr 3:146,772,687...146,801,981

G

toll-like receptor 8

ClinVar Annotator: match by term: Osteoarthritis

NCBI chr X:27,091,780...27,116,092
Ensembl chr X:27,091,778...27,116,549

G

TNF receptor superfamily member 10b

RGD

NCBI chr15:44,840,386...44,868,318
Ensembl chr15:44,840,386...44,867,467

G

TNF receptor superfamily member 11B

disease_progression

RGD

NCBI chr 7:85,566,520...85,594,526
Ensembl chr 7:85,566,520...85,594,538

G

TNF superfamily member 10

RGD

NCBI chr 2:110,199,835...110,227,239
Ensembl chr 2:110,207,916...110,225,135

G

TNF superfamily member 15

CTD Direct Evidence: marker/mechanism

NCBI chr 5:77,134,885...77,156,171
Ensembl chr 5:77,139,878...77,156,228

G

TNF receptor-associated protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:11,464,882...11,498,931
Ensembl chr10:11,464,821...11,498,981

G

tripartite motif-containing 2

CTD Direct Evidence: marker/mechanism

NCBI chr 2:169,500,628...169,652,855
Ensembl chr 2:169,500,634...169,652,927

G

transient receptor potential cation channel, subfamily V, member 4

CTD Direct Evidence: marker/mechanism

NCBI chr12:41,938,533...41,977,517
Ensembl chr12:41,938,560...41,977,517

G

thioredoxin reductase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:20,830,042...20,914,990
Ensembl chr 7:20,830,045...20,907,863

G

voltage-dependent anion channel 2

CTD Direct Evidence: marker/mechanism

NCBI chr15:2,462,877...2,476,802
Ensembl chr15:2,463,056...2,476,553

G

vimentin

CTD Direct Evidence: marker/mechanism

PMID:16876394 PMID:18784066

NCBI chr17:76,668,701...76,677,186
Ensembl chr17:76,668,647...76,677,187

G

tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta

CTD Direct Evidence: marker/mechanism

NCBI chr 6:40,935,714...40,966,240
Ensembl chr 6:40,935,949...40,966,273

Osteoarthritis with Mild Chondrodysplasia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

collagen type II alpha 1 chain

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 More...

NCBI chr 7:129,098,489...129,127,560
Ensembl chr 7:129,098,786...129,127,546

Osteoarthritis, Experimental

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

beclin 1

treatment

RGD

NCBI chr10:86,231,387...86,246,742
Ensembl chr10:86,231,388...86,246,742

G

bone morphogenetic protein 4

RGD

NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306

G

caspase 3

treatment

RGD

NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648

G

caspase 6

treatment

RGD

NCBI chr 2:218,466,063...218,478,503
Ensembl chr 2:218,466,076...218,478,502

G

caspase 7

treatment

RGD

NCBI chr 1:255,437,438...255,476,737
Ensembl chr 1:255,437,172...255,476,729

G

caspase 8

treatment

RGD

NCBI chr 9:60,263,863...60,312,542
Ensembl chr 9:60,264,075...60,312,542

G

collagen type I alpha 1 chain

treatment

RGD

NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624

G

discoidin domain receptor tyrosine kinase 2

treatment

RGD

NCBI chr13:82,193,623...82,318,229
Ensembl chr13:82,195,463...82,317,363

G

Fibroblast growth factor receptor 1

RGD

NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350

G

Fms related receptor tyrosine kinase 1

RGD

NCBI chr12:7,296,899...7,468,626
Ensembl chr12:7,297,292...7,468,626

G

heat shock protein family A (Hsp70) member 1A

treatment

RGD

NCBI chr20:3,870,765...3,873,221
Ensembl chr20:3,856,006...3,873,227

G

LDL receptor related protein associated protein 1

mRNA:decreased expression:knee

RGD

NCBI chr14:75,651,371...75,663,380
Ensembl chr14:75,651,376...75,665,414

G

microtubule-associated protein 1 light chain 3 alpha

treatment

RGD

NCBI chr 3:143,783,024...143,784,670
Ensembl chr 3:143,783,024...143,784,670

G

mitogen activated protein kinase 3

RGD

NCBI chr 1:181,366,646...181,372,863
Ensembl chr 1:181,366,637...181,372,863

G

neural cell adhesion molecule 1

protein:decreased expression:skeletal joint

RGD

NCBI chr 8:49,865,629...50,165,687
Ensembl chr 8:49,865,633...50,166,014

G

serpin family F member 1

severity

RGD

NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646

G

unc-51 like autophagy activating kinase 1

treatment

RGD

NCBI chr12:45,851,710...45,877,966
Ensembl chr12:45,851,710...45,877,966

Osteoarthritis, Hip

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ADAM metallopeptidase with thrombospondin type 1 motif, 5

mRNA:increased expression:cartilage

RGD

NCBI chr11:25,000,627...25,047,205
Ensembl chr11:25,000,637...25,047,205

G

asporin

mRNA:increased expression:cartilage:

RGD

NCBI chr17:15,079,910...15,104,369
Ensembl chr17:15,080,639...15,104,041

G

astrotactin 2

CTD Direct Evidence: marker/mechanism

NCBI chr 5:78,758,142...79,744,021
Ensembl chr 5:78,758,142...79,748,273

G

chondroadherin-like

CTD Direct Evidence: marker/mechanism

PMID:28319091 PMID:30374069

NCBI chr 7:113,205,323...113,218,678
Ensembl chr 7:113,210,748...113,217,272

G

collagen type X alpha 1 chain

mRNA, protein:increased expression:cartilage

RGD

NCBI chr20:38,183,103...38,189,488
Ensembl chr20:38,182,494...38,189,494

G

collagen type XI alpha 1 chain

CTD Direct Evidence: marker/mechanism

NCBI chr 2:201,820,715...202,013,853
Ensembl chr 2:201,820,715...202,013,853

G

collagen type I alpha 1 chain

no_association
susceptibility

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

G

cartilage oligomeric matrix protein

CTD Direct Evidence: marker/mechanism

NCBI chr16:19,047,206...19,055,584
Ensembl chr16:19,047,207...19,055,845

G

corticotropin releasing hormone receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:89,040,186...89,083,481
Ensembl chr10:89,040,203...89,083,481

G

diablo, IAP-binding mitochondrial protein

CTD Direct Evidence: marker/mechanism

NCBI chr12:33,055,784...33,070,401
Ensembl chr12:33,055,263...33,070,387

G

estrogen receptor 1

DNA:SNP:intron:g.-397T>C (human)

RGD

NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002

G

filamin A interacting protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:80,761,283...80,956,556
Ensembl chr 8:80,764,604...80,922,549

G

frizzled-related protein

ClinVar Annotator: match by term: OSTEOARTHRITIS OF HIP, FEMALE-SPECIFIC, SUSCEPTIBILITY TO

NCBI chr 3:65,332,274...65,365,208
Ensembl chr 3:65,332,277...65,365,208

G

growth hormone receptor

associated with Acromegaly;DNA:deletion:exon:

RGD

NCBI chr 2:52,541,452...52,804,960
Ensembl chr 2:52,542,594...52,804,735

G

histone deacetylase 9

CTD Direct Evidence: marker/mechanism

NCBI chr 6:50,762,074...51,624,311
Ensembl chr 6:50,763,590...51,625,333

G

homeostatic iron regulator

CTD Direct Evidence: marker/mechanism

NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502

G

interleukin 11

CTD Direct Evidence: marker/mechanism

PMID:30374069 PMID:30664745

NCBI chr 1:69,069,829...69,076,129
Ensembl chr 1:69,068,137...69,076,129

G

interleukin 4 receptor

susceptibility
no_association

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

G

inter-alpha trypsin inhibitor, heavy chain 1

CTD Direct Evidence: marker/mechanism

NCBI chr16:6,122,246...6,136,363
Ensembl chr16:6,122,248...6,136,363

G

LIM homeobox transcription factor 1 beta

CTD Direct Evidence: marker/mechanism

NCBI chr 3:16,862,195...16,940,899
Ensembl chr 3:16,862,195...16,940,899

G

latent transforming growth factor beta binding protein 3

CTD Direct Evidence: marker/mechanism

NCBI chr 1:203,029,412...203,045,975
Ensembl chr 1:203,029,877...203,045,975

G

microtubule-associated protein tau

CTD Direct Evidence: marker/mechanism

NCBI chr10:89,138,644...89,236,137
Ensembl chr10:89,138,627...89,236,129

G

matrix metallopeptidase 13

mRNA, protein:increased expression:cartilage

RGD

NCBI chr 8:4,497,960...4,508,239
Ensembl chr 8:4,497,960...4,508,239

G

RUNX family transcription factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 9:16,167,504...16,492,826
Ensembl chr 9:16,167,482...16,492,167

G

SMAD family member 3

CTD Direct Evidence: marker/mechanism

NCBI chr 8:64,126,829...64,236,960
Ensembl chr 8:64,110,039...64,236,960

G

smoothened, frizzled class receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 4:58,343,626...58,373,823
Ensembl chr 4:58,343,529...58,373,829

G

tenascin C

CTD Direct Evidence: marker/mechanism

NCBI chr 5:77,375,851...77,460,712
Ensembl chr 5:77,375,851...77,460,624

otulipenia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

OTU deubiquitinase with linear linkage specificity

ClinVar Annotator: match by term: Autoinflammation, panniculitis, and dermatosis syndrome | ClinVar Annotator: match by term: OTULIPENIA

PMID:25741868 PMID:27523608 PMID:27559085 PMID:28492532 PMID:30796585 More...

NCBI chr 2:78,290,437...78,316,633
Ensembl chr 2:78,290,959...78,316,422

polymyalgia rheumatica

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

corticotropin releasing hormone

no_association

DNA:polymorphism:promoter

RGD

NCBI chr 2:102,143,055...102,144,919
Ensembl chr 2:102,143,055...102,144,919

G

C-reactive protein

treatment

RGD

NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178

G

homeostatic iron regulator

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

RGD

NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502

G

mannose binding lectin 2

DNA:polymorphism:cds:

RGD

NCBI chr 1:228,016,439...228,024,736

G

matrix metallopeptidase 3

RGD

NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961

G

platelet and endothelial cell adhesion molecule 1

protein:increased expression:plasma, endothelial microparticle (human)

RGD

NCBI chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116

Reynolds Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

lamin B receptor

ClinVar Annotator: match by term: PRIMARY BILIARY CIRRHOSIS, SCLERODERMA, RAYNAUD DISEASE, AND TELANGIECTASIA | ClinVar Annotator: match by term: Reynolds syndrome

PMID:18382993 PMID:20522425 PMID:24033266 PMID:25348816 PMID:25741868 More...

NCBI chr13:93,539,386...93,564,026
Ensembl chr13:93,538,920...93,564,017

rheumatic fever

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

GC, vitamin D binding protein

RGD

NCBI chr14:18,632,146...18,667,563
Ensembl chr14:18,632,135...18,667,567

G

intercellular adhesion molecule 1

protein:increased expression:serum

RGD

NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438

G

RT1 class II, locus Ba

susceptibility

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

G

RT1 class II, locus Bb

DNA:polymorphisms, haplotypes:multiple

RGD

NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597

G

RT1 class II, locus Db1

DNA:polymorphisms, haplotypes:multiple

RGD

NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258

rheumatic heart disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

actin alpha 2, smooth muscle

mRNA, protein:increases expression:mitral valve, heart (rat)

RGD

NCBI chr 1:231,746,527...231,759,307
Ensembl chr 1:231,746,548...231,759,554

G

BCL2 associated X, apoptosis regulator

mRNA:increases expression:mitral valve, heart (rat)

RGD

NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368

G

CD209d molecule

protein:increased expression:left cardiac atrium, dendritic cell (human)

RGD

NCBI chr12:1,891,109...1,897,559
Ensembl chr12:1,891,113...1,901,171

G

CD36 molecule

mRNA:decreased expression:blood, mononuclear cell

RGD

NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903

G

collagen type I alpha 1 chain

mRNA, protein:increases expression:mitral valve, heart (rat)

RGD

NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624

G

collagen type III alpha 1 chain

mRNA:increases expression:mitral valve, heart (rat)

RGD

NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547

G

glyceraldehyde-3-phosphate dehydrogenase

RGD

NCBI chr 4:157,962,312...157,967,158
Ensembl chr 4:157,962,343...157,966,235

G

insulin-like growth factor 1

RGD

NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296

G

interleukin 10

no_association

RGD

NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313

G

inhibin subunit beta A

mRNA, protein:increases expression:mitral valve, heart (rat)

RGD

NCBI chr17:49,091,635...49,111,573
Ensembl chr17:49,095,920...49,108,982

G

lymphoid enhancer binding factor 1

mRNA, protein:increases expression:mitral valve, heart (rat)

RGD

NCBI chr 2:219,666,549...219,779,815
Ensembl chr 2:219,666,592...219,779,794

G

microRNA 155

RGD

NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718

G

matrix metallopeptidase 9

RGD

NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120

G

RT1 class II, locus Ba

susceptibility

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

G

RT1 class II, locus Bb

DNA:polymorphisms:cds:HLA-DQB1*08 (human)

RGD

NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597

G

RT1 class II, locus Db1

susceptibility

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

G

snail family transcriptional repressor 1

mRNA, protein:increases expression:mitral valve, heart (rat)

RGD

NCBI chr 3:156,248,479...156,252,969
Ensembl chr 3:156,248,485...156,252,969

G

suppressor of cytokine signaling 1

treatment

RGD

NCBI chr10:4,882,651...4,884,342
Ensembl chr10:4,882,560...4,884,383

G

twist family bHLH transcription factor 1

mRNA, protein:increases expression:mitral valve, heart (rat)

RGD

NCBI chr 6:50,674,910...50,676,904
Ensembl chr 6:50,674,678...50,677,653

G

zinc finger E-box binding homeobox 1

mRNA, protein:increases expression:mitral valve, heart (rat)

RGD

NCBI chr17:51,948,948...52,116,018
Ensembl chr17:51,948,948...52,115,214

G

zinc finger E-box binding homeobox 2

mRNA, protein:increases expression:mitral valve, heart (rat)

RGD

NCBI chr 3:29,214,581...29,344,890
Ensembl chr 3:29,218,301...29,345,157

rheumatic myocarditis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

gelsolin

protein:decreased expression:blood plasma (human)

RGD

NCBI chr 3:18,585,166...18,638,404
Ensembl chr 3:18,585,172...18,638,402

G

intercellular adhesion molecule 1

severity

protein:increased expression:serum

RGD

NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438

G

selectin E

severity

protein:increased expression:serum

RGD

NCBI chr13:76,402,841...76,412,741
Ensembl chr13:76,403,304...76,412,741

G

vascular cell adhesion molecule 1

severity

protein:increased expression:serum

RGD

NCBI chr 2:204,038,120...204,057,852
Ensembl chr 2:204,038,114...204,057,958

rheumatoid arthritis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

alpha-2-macroglobulin

GAD

NCBI chr 4:154,897,770...154,947,787
Ensembl chr 4:154,897,877...154,947,786

G

ATP binding cassette subfamily B member 1A

CTD Direct Evidence: marker/mechanism

PMID:20080907 PMID:22104130

NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709

G

ATP binding cassette subfamily C member 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:242,664,657...242,723,239
Ensembl chr 1:242,664,657...242,723,238

G

ATP binding cassette subfamily C member 3

CTD Direct Evidence: marker/mechanism

NCBI chr10:79,296,681...79,342,749
Ensembl chr10:79,296,693...79,342,595

G

ATP binding cassette subfamily C member 4

CTD Direct Evidence: marker/mechanism

NCBI chr15:95,541,186...95,774,898
Ensembl chr15:95,542,315...95,774,283

G

ATP binding cassette subfamily C member 5

CTD Direct Evidence: marker/mechanism

NCBI chr11:80,473,809...80,567,257
Ensembl chr11:80,473,872...80,567,253

G

ATP binding cassette subfamily G member 2

CTD Direct Evidence: marker/mechanism

NCBI chr 4:87,676,241...87,802,757
Ensembl chr 4:87,745,319...87,802,409

G

aggrecan

disease_progression

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

CTD
RGD

PMID:15292528 PMID:16507130

NCBI chr 1:132,981,582...133,044,416
Ensembl chr 1:132,981,582...133,043,627

G

atypical chemokine receptor 3

CTD Direct Evidence: marker/mechanism

NCBI chr 9:90,799,682...90,811,246
Ensembl chr 9:90,799,686...90,811,237

G

ADAM metallopeptidase with thrombospondin type 1 motif, 4

mRNA:increased expression:synovium

RGD

NCBI chr13:83,670,556...83,680,045
Ensembl chr13:83,670,183...83,680,065

G

ADAM metallopeptidase with thrombospondin type 1 motif, 5

protein:alternative form:synovium

RGD

NCBI chr11:25,000,627...25,047,205
Ensembl chr11:25,000,637...25,047,205

G

adiponectin, C1Q and collagen domain containing

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

CTD
RGD

PMID:12833524 PMID:21789720

NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564

G

adenosine A2a receptor

CTD Direct Evidence: marker/mechanism

NCBI chr20:13,315,848...13,333,386
Ensembl chr20:13,315,853...13,333,386

G

adrenoceptor beta 3

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

RGD

NCBI chr16:64,839,820...64,844,552
Ensembl chr16:64,841,788...64,844,552

G

ALF transcription elongation factor 3

CTD Direct Evidence: marker/mechanism

PMID:20453842 PMID:23143596

NCBI chr 9:40,399,099...40,856,716
Ensembl chr 9:40,404,375...40,857,247

G

advanced glycosylation end product-specific receptor

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

CTD
RGD

PMID:16385501 PMID:20541603

NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078

G

aryl hydrocarbon receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568

G

arachidonate 5-lipoxygenase

CTD Direct Evidence: marker/mechanism

NCBI chr 4:149,531,329...149,578,696
Ensembl chr 4:149,531,515...149,578,743

G

angiogenin

RGD

NCBI chr15:24,312,711...24,323,361

G

ankyrin repeat domain 55

CTD Direct Evidence: marker/mechanism

NCBI chr 2:43,883,877...43,983,820
Ensembl chr 2:43,883,857...43,983,680

G

annexin A3

CTD Direct Evidence: marker/mechanism

NCBI chr14:12,727,708...12,781,717
Ensembl chr14:12,719,795...12,781,617

G

apolipoprotein A4

protein:increased expression:blood serum (human)

RGD

NCBI chr 8:46,539,083...46,541,464
Ensembl chr 8:46,539,082...46,541,469

G

AT-rich interaction domain 5B

CTD Direct Evidence: marker/mechanism

PMID:22446963 PMID:23143596

NCBI chr20:20,307,731...20,490,746
Ensembl chr20:20,307,731...20,487,433

G

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

CTD Direct Evidence: marker/mechanism

NCBI chr 9:73,164,846...73,184,897
Ensembl chr 9:73,164,846...73,184,889

G

alpha-2-glycoprotein 1, zinc-binding

mRNA:decreased expression:liver

RGD

NCBI chr12:16,930,990...16,939,333
Ensembl chr12:16,931,024...16,939,091

G

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

CTD Direct Evidence: marker/mechanism

NCBI chr14:96,808,473...96,833,674
Ensembl chr14:96,806,664...96,835,273

G

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

CTD Direct Evidence: marker/mechanism

NCBI chr19:33,129,740...33,134,048
Ensembl chr19:33,128,142...33,132,344

G

BAR/IMD domain containing adaptor protein 2 like 1

CTD Direct Evidence: marker/mechanism

NCBI chr12:10,250,434...10,339,937
Ensembl chr12:10,250,473...10,339,928

G

BCL2-related protein A1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:89,716,914...89,724,998
Ensembl chr 8:89,716,914...89,724,998

G

bradykinin receptor B2

CTD Direct Evidence: marker/mechanism

NCBI chr 6:124,472,317...124,502,497
Ensembl chr 6:124,472,566...124,502,497

G

bone gamma-carboxyglutamate protein

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

biglycan

CTD Direct Evidence: marker/mechanism

NCBI chr X:151,197,296...151,209,458
Ensembl chr X:151,197,273...151,209,461

G

BLK proto-oncogene, Src family tyrosine kinase

CTD Direct Evidence: marker/mechanism

PMID:20453842 PMID:23143596

NCBI chr15:37,626,746...37,665,053
Ensembl chr15:37,627,039...37,665,031

G

bone morphogenetic protein 4

CTD Direct Evidence: marker/mechanism

NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306

G

bone morphogenetic protein 6

CTD Direct Evidence: marker/mechanism

NCBI chr17:26,318,121...26,469,691
Ensembl chr17:26,318,569...26,470,365

G

butyrophilin-like 2

susceptibility

DNA:SNPs: :

RGD

NCBI chr20:4,490,169...4,504,002
Ensembl chr20:4,489,517...4,503,341

G

complement C3

RGD

NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429

G

complement C4B

RGD

NCBI chr20:4,197,371...4,211,684
Ensembl chr20:4,197,366...4,211,681

G

caldesmon 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:63,265,781...63,446,938
Ensembl chr 4:63,265,942...63,446,932

G

carbonic anhydrase 1

RGD

NCBI chr 2:86,829,436...86,872,209
Ensembl chr 2:86,861,897...86,872,208

G

carbonic anhydrase 2

RGD

NCBI chr 2:86,741,625...86,756,766
Ensembl chr 2:86,741,626...86,756,818

G

caspase 7

RGD

NCBI chr 1:255,437,438...255,476,737
Ensembl chr 1:255,437,172...255,476,729

G

calpastatin

RGD

NCBI chr 2:3,973,112...4,082,658
Ensembl chr 2:3,973,112...4,082,659

G

catalase

CTD Direct Evidence: marker/mechanism

NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478

G

caveolin 2

CTD Direct Evidence: marker/mechanism

NCBI chr 4:45,616,766...45,624,144
Ensembl chr 4:45,616,712...45,624,244

G

C-C motif chemokine ligand 2

protein:increased expression:serum

RGD

NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226

G

C-C motif chemokine ligand 21

CTD Direct Evidence: marker/mechanism

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

C-C motif chemokine ligand 22

protein:increased expression:plasma:

RGD

NCBI chr19:10,257,602...10,264,373
Ensembl chr19:10,257,601...10,264,400

G

cellular communication network factor 1

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

CTD
RGD

PMID:19192274 PMID:34031328

NCBI chr 2:234,562,410...234,565,370
Ensembl chr 2:234,562,408...234,565,484

G

cellular communication network factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:20,802,199...20,805,315
Ensembl chr 1:20,802,199...20,805,734

G

C-C motif chemokine receptor 1

RGD

NCBI chr 8:123,556,286...123,561,841

G

C-C motif chemokine receptor 3

protein:increased expression:synovial fluid, neutrophil

RGD

NCBI chr 8:123,586,100...123,634,178
Ensembl chr 8:123,616,236...123,634,990

G

C-C motif chemokine receptor 4

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

G

C-C motif chemokine receptor 5

resistance
no_association

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

C-C motif chemokine receptor 6

CTD Direct Evidence: marker/mechanism

PMID:20453841 PMID:20453842 PMID:23143596

NCBI chr 1:52,474,477...52,508,301
Ensembl chr 1:52,474,168...52,498,603

G

Cd2 molecule

CTD Direct Evidence: marker/mechanism

NCBI chr 2:188,710,895...188,724,044
Ensembl chr 2:188,710,900...188,724,026

G

CD244 molecule

susceptibility

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Rheumatoid arthritis

CTD
OMIM
ClinVar

NCBI chr13:84,051,339...84,082,864
Ensembl chr13:84,052,493...84,074,492

G

Cd28 molecule

CTD Direct Evidence: marker/mechanism

CTD
RGD

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

NCBI chr 9:62,166,324...62,194,674
Ensembl chr 9:62,166,192...62,194,685

G

CD3 epsilon subunit of T-cell receptor complex

CTD Direct Evidence: marker/mechanism

NCBI chr 8:45,303,848...45,315,005
Ensembl chr 8:45,303,852...45,315,022

G

CD40 molecule

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

CTD
RGD

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

NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534

G

Cd5 molecule

CTD Direct Evidence: marker/mechanism

NCBI chr 1:207,365,337...207,386,313
Ensembl chr 1:207,365,337...207,386,313

G

Cd80 molecule

protein:increased expression:serum

RGD

NCBI chr11:62,254,543...62,293,414
Ensembl chr11:62,254,624...62,292,030

G

CD83 molecule

CTD Direct Evidence: marker/mechanism

NCBI chr17:20,887,309...20,907,009
Ensembl chr17:20,887,309...20,907,083

G

cyclin-dependent kinase 6

CTD Direct Evidence: marker/mechanism

NCBI chr 4:30,637,650...30,829,688
Ensembl chr 4:30,646,460...30,829,634

G

CCAAT/enhancer binding protein beta

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

RGD

NCBI chr 3:156,398,035...156,399,466
Ensembl chr 3:156,397,052...156,399,473

G

chitinase 3 like 1

severity

protein:increased secretion:serum (human)

RGD

NCBI chr13:45,641,802...45,649,787
Ensembl chr13:45,641,802...45,649,787

G

cholinergic receptor nicotinic alpha 7 subunit

mRNA,protein:increased expression:joint, spleen:

RGD

NCBI chr 1:116,711,559...116,837,269
Ensembl chr 1:116,714,711...116,837,240

G

cholinergic receptor nicotinic gamma subunit

ClinVar Annotator: match by term: Rheumatoid arthritis

PMID:23261301 PMID:25741868 PMID:28492532

NCBI chr 9:87,878,085...87,884,193
Ensembl chr 9:87,878,085...87,914,482

G

class II, major histocompatibility complex, transactivator

susceptibility
no_association

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 More...

RGD:5491176, RGD:1358146, RGD:5491189

NCBI chr10:5,139,947...5,187,493
Ensembl chr10:5,140,178...5,187,440

G

C-type lectin domain family 12, member A

CTD Direct Evidence: marker/mechanism

NCBI chr 4:162,798,125...162,816,757
Ensembl chr 4:162,798,125...162,816,753

G

C-type lectin domain containing 16A

DNA:polymorphism:intron:rs6498169G (human)

RGD

NCBI chr10:4,927,799...5,123,749
Ensembl chr10:4,928,030...5,123,578

G

collagen type II alpha 1 chain

CTD Direct Evidence: marker/mechanism

PMID:27028940 PMID:29935983

NCBI chr 7:129,098,489...129,127,560
Ensembl chr 7:129,098,786...129,127,546

G

ceruloplasmin

CTD Direct Evidence: marker/mechanism

NCBI chr 2:102,439,433...102,498,075
Ensembl chr 2:102,439,624...102,498,075

G

C-reactive protein

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

G

colony stimulating factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199

G

cytotoxic T-lymphocyte-associated protein 4

CTD Direct Evidence: marker/mechanism

PMID:20453842 PMID:23143596

NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963

G

cathepsin D

CTD Direct Evidence: marker/mechanism

NCBI chr 1:197,527,467...197,539,343
Ensembl chr 1:197,527,467...197,539,488

G

C-X3-C motif chemokine ligand 1

RGD

NCBI chr19:10,227,337...10,237,826
Ensembl chr19:10,227,340...10,236,833

G

C-X-C motif chemokine ligand 2

CTD Direct Evidence: marker/mechanism

NCBI chr14:17,181,030...17,183,075
Ensembl chr14:17,181,062...17,183,075

G

C-X-C motif chemokine ligand 6

CTD Direct Evidence: marker/mechanism

NCBI chr14:17,310,790...17,312,250
Ensembl chr14:17,310,426...17,313,093

G

C-X-C motif chemokine receptor 3

protein:increased expression:synovial fluid, neutrophil

RGD

NCBI chr X:66,844,318...66,846,969
Ensembl chr X:66,844,318...66,846,969

G

C-X-C motif chemokine receptor 4

CTD Direct Evidence: marker/mechanism

NCBI chr13:40,077,976...40,081,883
Ensembl chr13:40,077,976...40,081,883

G

cytochrome b-245 beta chain

CTD Direct Evidence: marker/mechanism

NCBI chr X:13,358,101...13,392,570
Ensembl chr X:13,359,430...13,392,586

G

DNA-damage-inducible transcript 4

CTD Direct Evidence: marker/mechanism

NCBI chr20:27,891,989...27,894,088
Ensembl chr20:27,891,998...27,894,105

G

DEAD-box helicase 6

CTD Direct Evidence: marker/mechanism

NCBI chr 8:44,931,127...44,967,773
Ensembl chr 8:44,931,974...44,964,405
Ensembl chr 8:44,931,974...44,964,405

G

dihydrofolate reductase

CTD Direct Evidence: marker/mechanism

NCBI chr 2:23,585,876...23,611,199
Ensembl chr 2:23,586,031...23,613,713

G

deoxyribonuclease 1L3

CTD Direct Evidence: marker/mechanism

PMID:23143596 PMID:30224649

NCBI chr15:16,922,335...16,948,322
Ensembl chr15:16,922,335...16,948,317

G

deoxyribonuclease 2, lysosomal

OMIM:180300

NCBI chr19:23,244,656...23,247,376
Ensembl chr19:23,244,664...23,247,376

G

DNA methyltransferase 1

severity

mRNA:increased expression:mononuclear cell

RGD

NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659

G

DNA methyltransferase 3 beta

disease_progression

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

RGD

NCBI chr 3:142,130,588...142,169,128
Ensembl chr 3:142,130,592...142,169,124

G

endothelin 1

treatment

RGD

NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885

G

elastin

RGD

NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928

G

enolase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:160,719,951...160,731,337
Ensembl chr 5:160,719,951...160,731,336
Ensembl chr 3:160,719,951...160,731,336

G

endothelial PAS domain protein 1

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

RGD

NCBI chr 6:7,790,236...7,871,717
Ensembl chr 6:7,790,647...7,871,228

G

establishment of sister chromatid cohesion N-acetyltransferase 2

mRNA:increased expression:peripheral blood mononuclear cell

RGD

NCBI chr15:40,034,566...40,052,295
Ensembl chr15:40,034,568...40,055,306

G

estrogen receptor 2

severity

DNA:SNP:exon:rs1256049(human)

RGD

NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919

G

coagulation factor II, thrombin

CTD Direct Evidence: marker/mechanism

NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486

G

Fas cell surface death receptor

susceptibility

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

G

Fas ligand

CTD Direct Evidence: marker/mechanism

NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215

G

Fc gamma receptor 1A

protein:increased expression:synovial joint:

RGD

NCBI chr 2:183,851,075...183,860,077
Ensembl chr 2:183,851,077...183,859,994

G

Fc gamma receptor 2A

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

G

Fc gamma receptor 3A

susceptibility

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

G

FKBP prolyl isomerase 5

CTD Direct Evidence: marker/mechanism

NCBI chr20:6,457,207...6,575,404
Ensembl chr20:6,457,216...6,541,674

G

forkhead box O3

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

RGD

NCBI chr20:45,669,708...45,764,606
Ensembl chr20:45,672,995...45,764,561

G

forkhead box P3

CTD Direct Evidence: marker/mechanism

NCBI chr X:14,908,494...14,924,994
Ensembl chr X:14,908,494...14,923,838

G

folylpolyglutamate synthase

CTD Direct Evidence: marker/mechanism

NCBI chr 3:15,972,800...15,993,592
Ensembl chr 3:15,972,800...15,993,563

G

phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase

CTD Direct Evidence: marker/mechanism

NCBI chr11:30,864,896...30,891,125
Ensembl chr11:30,865,889...30,891,125

G

GATA binding protein 3

CTD Direct Evidence: marker/mechanism

NCBI chr17:68,643,760...68,666,000
Ensembl chr17:68,643,873...68,665,391

G

GC, vitamin D binding protein

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

CTD
RGD

PMID:3874814 PMID:9548303

NCBI chr14:18,632,146...18,667,563
Ensembl chr14:18,632,135...18,667,567

G

growth differentiation factor 5

CTD Direct Evidence: marker/mechanism

NCBI chr 3:144,454,316...144,458,508
Ensembl chr 3:144,454,338...144,458,612

G

gamma-glutamyl hydrolase

CTD Direct Evidence: marker/mechanism

NCBI chr 5:33,529,880...33,552,790
Ensembl chr 5:33,529,880...33,552,787

G

gypsy retrotransposon integrase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:98,293,596...98,315,155
Ensembl chr 9:98,293,597...98,315,848

G

G protein-coupled receptor, class C, group 5, member A

CTD Direct Evidence: marker/mechanism

NCBI chr 4:167,903,542...167,922,276
Ensembl chr 4:167,903,542...167,922,260

G

G protein-coupled receptor kinase 2

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

G protein-coupled receptor kinase 5

no_association

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

G protein-coupled receptor kinase 6

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

G

gasdermin E

CTD Direct Evidence: marker/mechanism

NCBI chr 4:79,258,799...79,321,129
Ensembl chr 4:79,257,804...79,320,806

G

glutathione S-transferase mu 1

susceptibility

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

glutathione S-transferase theta 1

severity
susceptibility

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

G

hyaluronan and proteoglycan link protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:20,631,640...20,696,388
Ensembl chr 2:20,631,640...20,693,777

G

hematopoietic cell specific Lyn substrate 1

CTD Direct Evidence: marker/mechanism

NCBI chr11:63,817,482...63,840,943
Ensembl chr11:63,817,476...63,841,014

G

histone deacetylase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:141,853,992...141,881,057
Ensembl chr 5:141,853,989...141,881,111

G

homeostatic iron regulator

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

RGD

NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502

G

hepatocyte growth factor

disease_progression

protein:increased expression:serum:

RGD

NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409

G

hypoxia inducible factor 1 subunit alpha

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

RGD

NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261

G

heterogeneous nuclear ribonucleoprotein A2/B1

severity

RGD

NCBI chr 4:80,534,659...80,545,297
Ensembl chr 4:80,534,651...80,545,249

G

homeo box D10

CTD Direct Evidence: marker/mechanism

NCBI chr 3:59,594,516...59,597,725
Ensembl chr 3:59,594,516...59,597,725

G

homeobox D11

CTD Direct Evidence: marker/mechanism

NCBI chr 3:59,584,840...59,587,257
Ensembl chr 3:59,585,039...59,586,783

G

homeo box D13

CTD Direct Evidence: marker/mechanism

NCBI chr 3:59,570,647...59,573,963
Ensembl chr 3:59,570,646...59,573,963

G

hydroxysteroid 11-beta dehydrogenase 1

CTD Direct Evidence: marker/mechanism

NCBI chr13:104,728,539...104,798,884
Ensembl chr13:104,728,539...104,788,687

G

heat shock protein 90 alpha family class A member 1

mRNA:increased expression:peripheral blood leukocyte:

RGD

NCBI chr 6:129,702,376...129,707,907
Ensembl chr 6:129,702,383...129,707,268

G

heat shock protein family A (Hsp70) member 4

protein:increased expression:peripheral blood lymphocyte (human)

RGD

NCBI chr10:37,408,025...37,449,080
Ensembl chr10:37,408,025...37,449,001

G

heat shock protein family A (Hsp70) member 5

protein:increased expression:synovial joint

RGD

NCBI chr 3:18,055,507...18,059,969
Ensembl chr 3:18,055,405...18,059,891

G

heat shock protein family A (Hsp70) member 9

protein:increased expression:synovial cell:

RGD

NCBI chr18:26,536,131...26,554,294
Ensembl chr18:26,535,798...26,554,292

G

heat shock protein family B (small) member 1

protein:increased expression:serum:

RGD

NCBI chr12:20,794,014...20,795,675
Ensembl chr12:20,794,028...20,795,743

G

heat shock protein family D (Hsp60) member 1

mRNA:increased expression:peripheral blood leukocyte:

RGD

NCBI chr 9:56,579,195...56,590,011
Ensembl chr 9:56,579,201...56,589,662

G

interferon gamma

treatment

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

G

insulin-like growth factor 2

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

G

insulin-like growth factor binding protein 3

CTD Direct Evidence: marker/mechanism

NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083

G

IKAROS family zinc finger 3

CTD Direct Evidence: marker/mechanism

NCBI chr10:83,460,564...83,553,591
Ensembl chr10:83,465,745...83,553,591

G

interleukin 10

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

interleukin 13

protein:increased expression:serum

RGD

NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737

G

interleukin 17A

treatment

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

interleukin 18

CTD Direct Evidence: marker/mechanism

NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887

G

interleukin 19

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

PMID:12847677 PMID:25741868 PMID:28492532

NCBI chr13:42,397,715...42,411,637
Ensembl chr13:42,399,138...42,405,473

G

interleukin 1 alpha

severity

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

G

interleukin 1 beta

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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interleukin 1 receptor antagonist

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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interleukin 2

RGD

NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566

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interleukin 20

RGD

NCBI chr13:42,380,981...42,384,625
Ensembl chr13:42,380,981...42,384,625

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interleukin 21 receptor

RGD

NCBI chr 1:180,168,028...180,195,690
Ensembl chr 1:180,168,097...180,195,522

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interleukin 23 subunit alpha

CTD Direct Evidence: marker/mechanism

NCBI chr 7:721,809...723,923
Ensembl chr 7:721,809...723,923

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interleukin 23 receptor

susceptibility

DNA:SNP::rs1343151(human)

RGD

NCBI chr 4:96,580,568...96,672,540
Ensembl chr 4:96,580,714...96,674,021

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interleukin 2 receptor subunit alpha

CTD Direct Evidence: marker/mechanism

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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interleukin 2 receptor subunit beta

CTD Direct Evidence: marker/mechanism

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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interleukin 3

DNA: SNPs: Multiple: gene-gene interaction

RGD

NCBI chr10:38,405,716...38,408,066
Ensembl chr10:38,405,716...38,408,066

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interleukin 4 receptor

severity

DNA:SNP: :rs1805010 (human)

RGD

NCBI chr 1:180,115,061...180,139,981
Ensembl chr 1:180,115,120...180,139,980

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interleukin 5

RGD

NCBI chr10:37,874,342...37,877,213
Ensembl chr10:37,874,342...37,877,213

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interleukin 6

CTD Direct Evidence: marker/mechanism

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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interleukin 6 receptor

CTD Direct Evidence: marker/mechanism|therapeutic

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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interleukin 6 cytokine family signal transducer

CTD Direct Evidence: marker/mechanism
OMIM:180300

NCBI chr 2:44,065,979...44,106,255
Ensembl chr 2:44,066,130...44,109,936

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interleukin-1 receptor-associated kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr X:151,768,621...151,778,521
Ensembl chr X:151,768,777...151,778,521

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interferon regulatory factor 5

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 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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interferon regulatory factor 8

CTD Direct Evidence: marker/mechanism

NCBI chr19:48,790,581...48,812,363
Ensembl chr19:48,790,588...48,811,829

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integrin subunit alpha 6

CTD Direct Evidence: marker/mechanism

NCBI chr 3:56,604,512...56,689,428
Ensembl chr 3:56,617,268...56,689,428

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inosine triphosphatase

treatment

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

RGD

NCBI chr 3:117,885,464...117,897,247
Ensembl chr 3:117,885,099...117,897,249

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Janus kinase 2

RGD

NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189

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lysine acetyltransferase 2B

mRNA:increased expression:peripheral blood mononuclear cell

RGD

NCBI chr 9:6,562,525...6,667,064
Ensembl chr 9:6,562,288...6,667,064

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kinesin family member 5A

susceptibility

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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lysine methyltransferase 2C

treatment

RGD

NCBI chr 4:9,620,638...9,834,787
Ensembl chr 4:9,609,627...9,833,539

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lipocalin 2