autoimmune disease of musculoskeletal system - 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:	autoimmune disease of musculoskeletal system	go back to main search page
Accession:	DOID:0060032	browse the term
Definition:	An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the musculoskeletal system. (DO)

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Rat (1002) Mouse (938) Human (14912) Chinchilla (839) Bonobo (918) Dog (902) Squirrel (861) Pig (897) Green Monkey (891) Naked Mole-rat (844) All
Genes (930) QTL (42) Strains (30)

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 4:19,628,902...19,700,467
Ensembl chr 4:18,677,101...18,745,409

G

vascular endothelial growth factor A

protein:increased expression:serum:

RGD

NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:14,955,300...14,970,641

alopecia areata

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

coiled-coil alpha-helical rod protein 1

OMIM:104000 | OMIM:610753

NCBI chr20:3,210,383...3,223,187
Ensembl chr20:3,205,676...3,218,308

G

cytotoxic T-lymphocyte-associated protein 4

susceptibility

DNA:SNP:3'UTR:rs3087243(human)
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:20596022 PMID:23567921

NCBI chr 9:69,812,859...69,819,959
Ensembl chr 9:62,319,312...62,324,963

G

C-X-C motif chemokine ligand 10

CTD Direct Evidence: marker/mechanism

NCBI chr14:15,989,066...15,991,263
Ensembl chr14:15,704,758...15,706,975

G

C-X-C motif chemokine ligand 9

CTD Direct Evidence: marker/mechanism

NCBI chr14:16,007,166...16,012,077
Ensembl chr14:15,722,908...15,728,435

G

C-X-C motif chemokine receptor 3

CTD Direct Evidence: marker/mechanism

NCBI chr X:70,884,293...70,886,944
Ensembl chr X:66,844,318...66,846,969

G

DNA methyltransferase 1

mRNA:increased expression:mononuclear cell:

RGD

NCBI chr 8:27,716,797...27,763,405
Ensembl chr 8:19,440,611...19,486,659

G

euchromatic histone lysine methyltransferase 2

mRNA:increased expression:mononuclear cell:

RGD

NCBI chr20:3,924,263...3,941,238
Ensembl chr20:3,919,624...3,941,547

G

histone deacetylase 1

mRNA:increased expression:mononuclear cell:

RGD

NCBI chr 5:147,138,328...147,165,387
Ensembl chr 5:141,853,989...141,881,111

G

histone deacetylase 2

mRNA:decreased expression:mononuclear cell:

RGD

NCBI chr20:42,101,815...42,126,486
Ensembl chr20:40,548,250...40,571,609

G

histone deacetylase 7

mRNA:decreased expression:mononuclear cell:

RGD

NCBI chr 7:130,803,013...130,841,181
Ensembl chr 7:128,923,920...128,962,072

G

IKAROS family zinc finger 4

CTD Direct Evidence: marker/mechanism

NCBI chr 7:1,063,283...1,102,940
Ensembl chr 7:1,056,890...1,084,341

G

interleukin 18

susceptibility

DNA:SNPs:promoter, exon:-137G>C (rs187238), rs549908 (human)

RGD

NCBI chr 8:59,802,072...59,829,275
Ensembl chr 8:50,906,960...50,932,887

G

interleukin 1 receptor antagonist

severity

DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human)

RGD

NCBI chr 3:27,509,836...27,525,738
Ensembl chr 3:7,111,550...7,127,445

G

interleukin 2

RGD

PMID:3261574 PMID:16297194

RGD:8663449, RGD:8663450

NCBI chr 2:121,932,968...121,937,672
Ensembl chr 2:120,004,862...120,009,566

G

interleukin 2 receptor subunit alpha

CTD Direct Evidence: marker/mechanism

NCBI chr17:71,759,802...71,808,475
Ensembl chr17:66,849,974...66,898,697

G

lysine demethylase 1A

mRNA:decreased expression:peripheral blood mononuclear cell (human)

RGD

NCBI chr 5:154,066,436...154,121,913
Ensembl chr 5:148,782,976...148,838,319

G

lysine demethylase 4A

mRNA:decreased expression:peripheral blood mononuclear cell (human)

RGD

NCBI chr 5:136,958,178...137,004,942
Ensembl chr 5:131,672,754...131,719,501

G

lysine demethylase 4B

mRNA:decreased expression:peripheral blood mononuclear cell (human)

RGD

NCBI chr 9:1,158,737...1,237,233
Ensembl chr 9:1,158,752...1,236,543

G

lysine demethylase 4C

mRNA:increased expression:peripheral blood mononuclear cell (human)

RGD

NCBI chr 5:93,146,404...93,353,040
Ensembl chr 5:88,100,733...88,306,818

G

lysine demethylase 5A

mRNA:increased expression:peripheral blood mononuclear cell (human)

RGD

NCBI chr 4:155,238,124...155,316,121
Ensembl chr 4:153,565,846...153,642,422

G

MX dynamin like GTPase 1

onset

DNA:SNP:intron 6:g.9959C>T (human)

RGD

NCBI chr11:50,269,056...50,294,699
Ensembl chr11:36,799,660...36,823,507

G

notch receptor 4

RGD

NCBI chr20:4,164,969...4,189,072
Ensembl chr20:4,160,445...4,184,465

G

peroxiredoxin 5

CTD Direct Evidence: marker/mechanism

NCBI chr 1:213,529,042...213,532,787
Ensembl chr 1:204,099,826...204,114,268

G

protein tyrosine phosphatase, non-receptor type 22

severity

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

RGD

NCBI chr 2:194,055,165...194,103,209
Ensembl chr 2:191,366,808...191,414,779

G

RT1 class II, locus Ba

susceptibility

DNA:polymorphism: : HLA-DQA1*0104, HLA-DQA1*0606;

RGD

NCBI chr20:4,577,057...4,581,650
Ensembl chr20:4,575,134...4,579,744

G

RT1 class II, locus Bb

susceptibility

DNA:polymorphism: : HLA-DQB1*0604;

RGD

NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,596,559...4,607,597

G

syntaxin 17

CTD Direct Evidence: marker/mechanism

NCBI chr 5:67,241,673...67,302,228
Ensembl chr 5:62,446,187...62,504,451

Amyopathic Dermatomyositis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

RT1 class II, locus Ba

susceptibility

DNA:polymorphism: :HLA-DQA1*0501;
DNA:polymorphism (human)

RGD

PMID:18671865 PMID:8666549 PMID:15067086

RGD:5147790, RGD:8547569, RGD:5147796

NCBI chr20:4,577,057...4,581,650
Ensembl chr20:4,575,134...4,579,744

ankylosing spondylitis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiotensin I converting enzyme

susceptibility

DNA:deletion:intron:IVS16+1464-1751del (human)

RGD

NCBI chr10:91,410,129...91,430,246
Ensembl chr10:90,910,316...90,931,131

G

adiponectin, C1Q and collagen domain containing

protein:increased expression:serum

RGD

NCBI chr11:91,226,524...91,240,244
Ensembl chr11:77,721,912...77,735,564

G

anoctamin 6

severity

DNA:SNP: :rs17095830(human)
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:22138694 PMID:23308121

NCBI chr 7:128,812,842...128,992,805
Ensembl chr 7:126,933,936...127,113,589

G

ANTXR cell adhesion molecule 2

CTD Direct Evidence: marker/mechanism

PMID:20062062 PMID:21743469

NCBI chr14:11,541,718...11,682,110
Ensembl chr14:11,541,772...11,682,094

G

asporin

susceptibility

DNA:repeats:exon:

RGD

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

G

caspase recruitment domain family, member 9

CTD Direct Evidence: marker/mechanism

NCBI chr 3:29,569,907...29,578,402
Ensembl chr 3:9,171,815...9,180,237

G

C-reactive protein

disease_progression

protein:increased expression:serum:

RGD

PMID:22422197 PMID:6605119

RGD:6482308, RGD:9491788

NCBI chr13:87,694,062...87,695,978
Ensembl chr13:85,124,977...85,175,178

G

cytochrome P450, family 1, subfamily a, polypeptide 1

DNA:polymorphism: :4887C>A (human)

RGD

NCBI chr 8:66,991,940...66,998,014
Ensembl chr 8:58,096,077...58,102,125

G

endoplasmic reticulum aminopeptidase 1

CTD Direct Evidence: marker/mechanism

PMID:17952073 PMID:20062062 PMID:21743469 PMID:23291587

NCBI chr 2:5,666,337...5,705,256
Ensembl chr 2:3,931,904...3,972,447

G

Fc gamma receptor 3A

severity

protein:decreased expression:polymorphonuclear leucocyte

RGD

NCBI chr13:85,782,636...85,792,656
Ensembl chr13:83,249,872...83,259,921

G

insulin-like growth factor binding protein 3

protein:decreased expression:serum

RGD

NCBI chr14:86,270,208...86,277,944
Ensembl chr14:82,056,347...82,064,083

G

interleukin 12B

CTD Direct Evidence: marker/mechanism

NCBI chr10:29,390,300...29,405,194
Ensembl chr10:28,893,008...28,902,903

G

interleukin 17A

treatment

RGD

NCBI chr 9:30,640,844...30,644,331
Ensembl chr 9:23,144,402...23,147,889

G

interleukin 1 receptor type 2

CTD Direct Evidence: marker/mechanism

NCBI chr 9:49,879,928...49,920,374
Ensembl chr 9:42,384,433...42,424,725

G

interleukin 23 receptor

no_association

DNA:SNPs,haplotype:multiple:
CTD Direct Evidence: marker/mechanism
DNA:SNP: :rs11209026(human)

CTD
RGD

PMID:17952073 PMID:20062062 PMID:19522770 PMID:19877036

RGD:8549549, RGD:8549630

NCBI chr 4:97,910,230...98,003,759
Ensembl chr 4:96,580,714...96,674,021

G

interleukin 6

protein:increased expression:serum:

RGD

NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,213,394...5,219,178

G

interleukin-1 receptor-associated kinase 1

susceptibility

DNA:SNP:enhancer: (rs3027898) (human)

RGD

NCBI chr X:156,919,927...156,929,825
Ensembl chr X:151,768,777...151,778,521

G

Janus kinase 2

susceptibility

DNA:SNPs, haplotype:introns: (rs1536798, rs10119004, rs7857730) (human)

RGD

NCBI chr 1:236,408,905...236,468,769
Ensembl chr 1:226,995,334...227,054,189

G

lysine demethylase 5A

susceptibility

DNA:snps:intron:IVST>A, IVS-1467C>T, IVS+828T>C (rs7134353, rs2284336, rs11062357) (human)

RGD

NCBI chr 4:155,238,124...155,316,121
Ensembl chr 4:153,565,846...153,642,422

G

methylenetetrahydrofolate reductase

susceptibility

DNA:SNP:cds:677C>T (human)

RGD

NCBI chr 5:163,748,346...163,768,141
Ensembl chr 5:158,465,296...158,483,797

G

placental growth factor

RGD

NCBI chr 6:110,547,165...110,557,747
Ensembl chr 6:104,816,104...104,826,685

G

proteasome 20S subunit beta 9

DNA: snp: rs17587

RGD

NCBI chr20:4,668,952...4,674,421
Ensembl chr20:4,666,046...4,672,512

G

prostaglandin E receptor 4

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:21743469 PMID:21743469

NCBI chr 2:56,061,699...56,074,594
Ensembl chr 2:54,335,424...54,346,670

G

RT1 class II, locus Ba

severity

DNA:polymorphism:cds:HLA-DQA1*0401 (human)

RGD

NCBI chr20:4,577,057...4,581,650
Ensembl chr20:4,575,134...4,579,744

G

RT1 class II, locus Bb

severity

DNA:polymorphism:cds:HLA-DQB1*0603 (human)

RGD

NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,596,559...4,607,597

G

RT1 class I, locus CE13

susceptibility

DNA:polymorphisms:cds:HLA-B27, HLA-B60 (human, Caucasian)

RGD

NCBI chr20:3,314,491...3,322,815

G

RT1 class II, locus Db1

severity

DNA:polymorphisms:cds:HLA-DRB1*0801, HLA-DRB1*0804 (human)

RGD

NCBI chr20:4,550,594...4,560,182
Ensembl chr20:4,548,666...4,558,258

G

RT1 class Ib, locus M5

no_association

DNA:polymorphisms:cds:HLA-B2705 (human)

RGD

NCBI chr20:1,551,751...1,554,015
Ensembl chr20:1,546,511...1,548,775

G

RUNX family transcription factor 3

CTD Direct Evidence: marker/mechanism

NCBI chr 5:152,644,270...152,702,835
Ensembl chr 5:147,360,994...147,419,156

G

transporter 1, ATP binding cassette subfamily B member

DNA:SNPs: :

RGD

NCBI chr20:4,658,171...4,668,543
Ensembl chr20:4,656,263...4,666,901

G

transporter 2, ATP binding cassette subfamily B member

DNA:SNPs: :

RGD

NCBI chr20:4,638,257...4,652,296
Ensembl chr20:4,636,357...4,650,407

G

TBK1 binding protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:82,616,978...82,632,169
Ensembl chr10:82,120,564...82,134,352

G

thrombomodulin

protein:increased expression:serum

RGD

NCBI chr 3:156,316,526...156,320,178
Ensembl chr 3:135,862,835...135,867,193

G

toll-like receptor 4

mRNA:increased expression:blood cell:

RGD

NCBI chr 5:85,161,247...85,174,882
Ensembl chr 5:80,145,826...80,159,628

G

toll-like receptor 5

mRNA:increased expression:blood cell:

RGD

NCBI chr13:97,166,430...97,190,642
Ensembl chr13:94,634,801...94,657,738

G

TNF receptor superfamily member 1B

RGD

NCBI chr 5:162,356,250...162,387,411
Ensembl chr 5:157,070,642...157,104,206

G

vasoactive intestinal peptide

protein:increased expression:plasma

RGD

NCBI chr 1:44,470,232...44,478,561
Ensembl chr 1:42,065,120...42,073,216

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 chr16:53,004,590...53,023,640
Ensembl chr16:46,272,016...46,291,059

bullous pemphigoid

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

C-C motif chemokine ligand 26

protein:increased expression:blister, serum (human)

RGD

NCBI chr12:26,745,972...26,750,924
Ensembl chr12:21,109,421...21,114,335

G

complement factor B

RGD

NCBI chr20:3,975,271...3,981,138
Ensembl chr20:3,951,474...3,976,505

G

coagulation factor II, thrombin

protein:increased expression:plasma

RGD

NCBI chr 3:98,051,958...98,065,246
Ensembl chr 3:77,596,198...77,609,486

G

intercellular adhesion molecule 1

RGD

NCBI chr 8:27,829,688...27,841,618
Ensembl chr 8:19,553,645...19,565,438

G

interleukin 2

RGD

NCBI chr 2:121,932,968...121,937,672
Ensembl chr 2:120,004,862...120,009,566

G

matrix metallopeptidase 9

RGD

NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:153,683,858...153,692,120

G

vascular endothelial growth factor A

mRNA:increased expression: :

RGD

NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:14,955,300...14,970,641

C1q Deficiency

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

complement C1q A chain

ClinVar Annotator: match by term: C1Q deficiency

PMID:7594474 PMID:8840296 PMID:9225968 PMID:9590289 PMID:21654842 More...

NCBI chr 5:154,417,086...154,419,933
Ensembl chr 5:149,133,636...149,136,534

G

complement C1q B chain

ClinVar Annotator: match by term: C1Q deficiency

PMID:17513176 PMID:21654842 PMID:25741868 PMID:28492532

NCBI chr 5:154,402,276...154,407,827
Ensembl chr 5:149,118,846...149,124,407

G

complement C1q C chain

ClinVar Annotator: match by term: C1Q deficiency

PMID:7029321 PMID:7900940 PMID:8630118 PMID:20635792 PMID:21654842 More...

NCBI chr 5:154,410,845...154,414,208
Ensembl chr 5:149,127,415...149,131,017

C1q Deficiency 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

complement C1q A chain

ClinVar Annotator: match by term: C1Q deficiency 1 | ClinVar Annotator: match by term: C1QA-related condition

PMID:25741868 PMID:28492532

NCBI chr 5:154,417,086...154,419,933
Ensembl chr 5:149,133,636...149,136,534

C1q Deficiency 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

complement C1q B chain

ClinVar Annotator: match by term: C1Q deficiency 2 | ClinVar Annotator: match by term: C1QB-related condition

PMID:2894352 PMID:24160257 PMID:25741868 PMID:28492532

NCBI chr 5:154,402,276...154,407,827
Ensembl chr 5:149,118,846...149,124,407

C1q Deficiency 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

complement C1q C chain

ClinVar Annotator: match by term: C1Q deficiency 3 | ClinVar Annotator: match by term: C1QC-related condition

PMID:7029321 PMID:8630118 PMID:24157463 PMID:28492532

NCBI chr 5:154,410,845...154,414,208
Ensembl chr 5:149,127,415...149,131,017

Chilblain lupus

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATR interacting protein

ClinVar Annotator: match by term: Chilblain lupus

PMID:16960810 PMID:17357087 PMID:17440703 PMID:18805785 PMID:20799324 More...

NCBI chr 8:118,586,909...118,600,975
Ensembl chr 8:109,708,440...109,722,477

G

three prime repair exonuclease 1

ClinVar Annotator: match by term: Chilblain lupus

PMID:16960810 PMID:17357087 PMID:17440703 PMID:18805785 PMID:20799324 More...

NCBI chr 8:118,585,082...118,586,382
Ensembl chr 8:109,706,613...109,708,796

Chilblain Lupus 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATR interacting protein

ClinVar Annotator: match by term: Chilblain lupus 1

PMID:16845398 PMID:17293595 PMID:17357087 PMID:17660818 PMID:17660820 More...

NCBI chr 8:118,586,909...118,600,975
Ensembl chr 8:109,708,440...109,722,477

G

SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:166,179,742...166,214,448
Ensembl chr 3:145,761,558...145,794,386

G

stimulator of interferon response cGAMP interactor 1

CTD Direct Evidence: marker/mechanism

NCBI chr18:27,606,196...27,612,544
Ensembl chr18:27,332,119...27,338,335

G

three prime repair exonuclease 1

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Chilblain lupus 1

CTD
OMIM
ClinVar

PMID:16845398 PMID:17293595 PMID:17357087 PMID:17660818 PMID:17660820 More...

NCBI chr 8:118,585,082...118,586,382
Ensembl chr 8:109,706,613...109,708,796

Chilblain Lupus 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1

ClinVar Annotator: match by term: Chilblain lupus 2 | ClinVar Annotator: match by term: SAMHD1-related condition

PMID:19525956 PMID:20653736 PMID:21204240 PMID:21402907 PMID:22461318 More...

NCBI chr 3:166,179,742...166,214,448
Ensembl chr 3:145,761,558...145,794,386

G

TBC/LysM-associated domain containing 2

ClinVar Annotator: match by term: Chilblain lupus 2 | ClinVar Annotator: match by term: SAMHD1-related condition

PMID:25741868 PMID:28492532

NCBI chr 3:166,162,315...166,178,881
Ensembl chr 3:145,743,619...145,758,741

cicatricial pemphigoid

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

clusterin

mRNA:decreased expression:conjunctiva

RGD

NCBI chr15:44,336,619...44,375,861
Ensembl chr15:40,174,617...40,200,315

G

interleukin 1 receptor antagonist

protein:increased expression:serum (human)

RGD

NCBI chr 3:27,509,836...27,525,738
Ensembl chr 3:7,111,550...7,127,445

G

prostaglandin E receptor 3

CTD Direct Evidence: marker/mechanism

NCBI chr 2:249,264,985...249,409,966
Ensembl chr 2:246,606,183...246,684,434

G

RT1 class II, locus Bb

susceptibility

DNA:polymorphisms, haplotypes:cds:HLA-DQB1*0301, HLA-DQB1*0201 (human)
DNA:polymorphism:cds:HLA-DQB1*0301 (human)

RGD

PMID:9683867 PMID:9008223

RGD:7365096, RGD:7483589

NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,596,559...4,607,597

G

RT1 class II, locus Db1

susceptibility

DNA:polymorphism: :DRB1*1101, DRB1*0701(human)
DNA:polymorphism: :HLA-DRB1*04(human)

RGD

PMID:9683867 PMID:8052655

RGD:7365096, RGD:7365103

NCBI chr20:4,550,594...4,560,182
Ensembl chr20:4,548,666...4,558,258

G

tumor necrosis factor

protein:increased expression:Conjunctiva:

RGD

NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629

congenital myasthenic syndrome 6

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

choline O-acetyltransferase

susceptibility

DNA:frameshift mutation, missense mutations (human)
ClinVar Annotator: match by term: CHAT-related condition | ClinVar Annotator: match by term: Familial infantile myasthenia
OMIM:254210
CTD Direct Evidence: marker/mechanism

ClinVar
MouseDO
CTD
OMIM
RGD

PMID:9073174 PMID:9536098 PMID:11172068 PMID:12548525 PMID:12609506 More...

NCBI chr16:7,663,665...7,723,416
Ensembl chr16:7,657,362...7,717,093

G

solute carrier family 18 member A3

ClinVar Annotator: match by term: CHAT-related condition | ClinVar Annotator: match by term: Familial infantile myasthenia

PMID:21948486 PMID:25741868 PMID:28492532

NCBI chr16:7,719,953...7,722,814

G

von Hippel-Lindau tumor suppressor

ClinVar Annotator: match by term: Familial infantile myasthenia

PMID:7728151 PMID:7784063 PMID:7987306 PMID:7987327 PMID:8522307 More...

NCBI chr 4:148,328,099...148,334,992
Ensembl chr 4:146,772,468...146,779,377

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 chr14:22,342,910...22,401,522
Ensembl chr14:21,988,144...22,055,476

G

fibrillin 1

RGD

NCBI chr 3:133,007,693...133,204,277
Ensembl chr 3:112,554,925...112,750,889

cutaneous lupus erythematosus

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

C-C motif chemokine receptor 3

RGD

NCBI chr 8:132,463,533...132,511,601
Ensembl chr 8:123,616,236...123,634,990

G

CD40 molecule

RGD

NCBI chr 3:174,209,113...174,224,592
Ensembl chr 3:153,790,449...153,805,534

G

CD40 ligand

RGD

NCBI chr X:140,164,341...140,176,057
Ensembl chr X:135,126,969...135,138,306

G

colony stimulating factor 1

RGD

NCBI chr 2:198,065,400...198,084,774
Ensembl chr 2:195,377,215...195,411,704

G

interleukin 17A

protein:increased expression:epidermis (human)

RGD

NCBI chr 9:30,640,844...30,644,331
Ensembl chr 9:23,144,402...23,147,889

G

three prime repair exonuclease 1

NCBI chr 8:118,585,082...118,586,382
Ensembl chr 8:109,706,613...109,708,796

dermatitis herpetiformis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

elastin

RGD

NCBI chr12:27,604,983...27,648,413
Ensembl chr12:21,968,544...22,011,928

G

lymphotoxin alpha

DNA:polymorphism

RGD

NCBI chr20:3,622,291...3,625,852
Ensembl chr20:3,618,853...3,620,859

G

tumor necrosis factor

DNA:polymorphism:promoter

RGD

NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629

G

vascular endothelial growth factor A

mRNA:increased expression: :

RGD

NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:14,955,300...14,970,641

dermatomyositis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiopoietin-like 2

NCBI chr 3:36,914,876...36,944,715
Ensembl chr 3:16,517,420...16,548,178

G

complement C2

CTD Direct Evidence: marker/mechanism

NCBI chr20:3,944,722...3,975,006
Ensembl chr20:3,951,474...3,976,505

G

complement C9

CTD Direct Evidence: marker/mechanism

NCBI chr 2:55,573,094...55,621,345
Ensembl chr 2:55,572,992...55,621,338

G

C-C motif chemokine receptor 2

protein:increased expression:limb muscle:

RGD

NCBI chr 8:132,611,883...132,619,106
Ensembl chr 8:123,734,430...123,742,100

G

CD36 molecule

mRNA:increased expression:skeletal muscle

RGD

NCBI chr 4:18,209,088...18,302,142
Ensembl chr 4:17,354,466...17,513,903

G

CD40 molecule

RGD

NCBI chr 3:174,209,113...174,224,592
Ensembl chr 3:153,790,449...153,805,534

G

CD40 ligand

RGD

NCBI chr X:140,164,341...140,176,057
Ensembl chr X:135,126,969...135,138,306

G

C-X3-C motif chemokine ligand 1

protein:expression:serum

RGD

NCBI chr19:10,233,326...10,244,856
Ensembl chr19:10,227,340...10,236,833

G

Fas cell surface death receptor

protein:increased expression:serum (human)

RGD

NCBI chr 1:241,212,155...241,245,774
Ensembl chr 1:231,798,960...231,832,591

G

hepatocyte growth factor

disease_progression

protein:increased expression:serum:

RGD

NCBI chr 4:19,628,902...19,700,467
Ensembl chr 4:18,677,101...18,745,409

G

interferon gamma

mRNA:increased expression:skeletal muscle

RGD

NCBI chr 7:55,789,180...55,793,216
Ensembl chr 7:53,903,337...53,907,375

G

interleukin 18

protein:increased expression:serum

RGD

NCBI chr 8:59,802,072...59,829,275
Ensembl chr 8:50,906,960...50,932,887

G

interleukin 1 alpha

CTD Direct Evidence: marker/mechanism

NCBI chr 3:136,979,804...136,990,236
Ensembl chr 3:116,526,604...116,536,822

G

interleukin 1 beta

CTD Direct Evidence: marker/mechanism

NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:116,577,010...116,583,415

G

interleukin 4

mRNA:increased expression:skeletal muscle

RGD

NCBI chr10:38,272,003...38,277,549
Ensembl chr10:37,771,203...37,776,750

G

mannose binding lectin 2

susceptibility

DNA:polymorphisms:cds:p.G54D,G57E(human)

RGD

NCBI chr 1:237,429,873...237,465,567

G

matrix metallopeptidase 1

mRNA:increased expression:skeletal muscle

RGD

NCBI chr 8:12,943,453...12,963,966
Ensembl chr 8:4,658,588...4,679,097

G

matrix metallopeptidase 9

mRNA:increased expression:skeletal muscle

RGD

NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:153,683,858...153,692,120

G

PMS1 homolog 1, mismatch repair system component

RGD

NCBI chr 9:55,721,393...55,832,225
Ensembl chr 9:48,253,410...48,340,237

G

roundabout guidance receptor 1

mRNA,protein:increased expression:muscle

RGD

NCBI chr11:24,067,869...25,108,694
Ensembl chr11:10,580,908...11,620,203

G

slit guidance ligand 2

mRNA,protein:increased expression:muscle

RGD

NCBI chr14:66,829,661...67,168,517
Ensembl chr14:62,617,067...62,955,948

G

signal transducer and activator of transcription 4

DNA:SNP: :rs7574865 (human)

RGD

NCBI chr 9:56,964,617...57,080,523
Ensembl chr 9:49,419,340...49,588,540

G

thrombomodulin

RGD

NCBI chr 3:156,316,526...156,320,178
Ensembl chr 3:135,862,835...135,867,193

G

toll-like receptor 2

mRNA,protein:increased expression:muscle

RGD

NCBI chr 2:171,499,189...171,504,831
Ensembl chr 2:169,197,419...169,206,630

G

toll-like receptor 4

mRNA,protein:increased expression:muscle

RGD

NCBI chr 5:85,161,247...85,174,882
Ensembl chr 5:80,145,826...80,159,628

G

toll-like receptor 9

mRNA,protein:increased expression:muscle

RGD

NCBI chr 8:115,743,407...115,747,523
Ensembl chr 8:106,864,680...106,868,796

G

tumor necrosis factor

CTD Direct Evidence: marker/mechanism

NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629

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 chr11:91,226,524...91,240,244
Ensembl chr11:77,721,912...77,735,564

G

angiotensinogen

protein:increased expression:serum

RGD

NCBI chr19:69,426,540...69,447,017
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 2:227,203,998...227,474,008
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 4:46,606,538...46,639,616
Ensembl chr 4:45,634,918...45,673,705

G

C-X-C motif chemokine ligand 6

RGD

NCBI chr14:17,594,959...17,596,417
Ensembl chr14:17,310,426...17,313,093

G

Fc gamma receptor 2A

RGD

NCBI chr13:85,813,516...85,830,269
Ensembl chr13:83,280,784...83,295,967

G

interleukin 10

protein:increased expression:serum

RGD

NCBI chr13:45,024,921...45,029,586
Ensembl chr13:42,472,839...42,477,313

G

interleukin 13

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

RGD

NCBI chr10:38,290,926...38,293,483
Ensembl chr10:37,790,130...37,792,737

G

interleukin 6

treatment

RGD

NCBI chr 4:5,889,999...5,894,575
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:156,919,927...156,929,825
Ensembl chr X:151,768,777...151,778,521

G

kinase insert domain receptor

protein:increased expression:serum:

RGD

NCBI chr14:32,572,031...32,615,204
Ensembl chr14:32,217,871...32,261,018

G

RT1 class II, locus Ba

susceptibility

DNA:polymorphism::HLA-DQA1*0501;

RGD

NCBI chr20:4,577,057...4,581,650
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 9:56,964,617...57,080,523
Ensembl chr 9:49,419,340...49,588,540

G

transporter 1, ATP binding cassette subfamily B member

susceptibility

RGD

NCBI chr20:4,658,171...4,668,543
Ensembl chr20:4,656,263...4,666,901

G

transporter 2, ATP binding cassette subfamily B member

susceptibility

RGD

NCBI chr20:4,638,257...4,652,296
Ensembl chr20:4,636,357...4,650,407

G

transforming growth factor, beta receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:66,449,348...66,506,371
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 2:171,499,189...171,504,831
Ensembl chr 2:169,197,419...169,206,630

G

WRN RecQ like helicase

RGD

NCBI chr16:65,466,552...65,602,951
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 chr12:47,599,161...47,638,143
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

susceptibility

ClinVar Annotator: match by term: Disabling pansclerotic morphea of childhood

PMID:25741868 PMID:28492532 PMID:37256972

NCBI chr 9:56,964,617...57,080,523
Ensembl chr 9:49,419,340...49,588,540

Discoid Lupus Erythematosus

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

annexin A1

RGD

NCBI chr 1:227,287,713...227,306,739
Ensembl chr 1:217,861,175...217,877,343

G

CD40 molecule

RGD

NCBI chr 3:174,209,113...174,224,592
Ensembl chr 3:153,790,449...153,805,534

G

CD40 ligand

RGD

NCBI chr X:140,164,341...140,176,057
Ensembl chr X:135,126,969...135,138,306

G

interleukin 17A

protein:increased expression:epidermis (human)

RGD

NCBI chr 9:30,640,844...30,644,331
Ensembl chr 9:23,144,402...23,147,889

G

N-acetyltransferase 2

treatment

DNA:polymorphisms: :

RGD

NCBI chr16:26,974,874...27,005,191
Ensembl chr16:22,208,194...22,238,520

G

8-oxoguanine DNA glycosylase

CTD Direct Evidence: marker/mechanism

NCBI chr 4:148,030,237...148,037,599
Ensembl chr 4:146,474,750...146,484,766

G

RT1 class II, locus Ba

susceptibility

DNA:polymorphism: :HLA-DQA1*0102

RGD

NCBI chr20:4,577,057...4,581,650
Ensembl chr20:4,575,134...4,579,744

G

Traf3 interacting protein 2

ClinVar Annotator: match by term: Discoid lupus erythematosus

NCBI chr20:44,565,992...44,609,240
Ensembl chr20:43,011,450...43,054,667

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 9:2,174,412...2,201,339
Ensembl chr 9:2,087,437...2,114,429

G

complement factor B

associated with Leprosy

RGD

NCBI chr20:3,975,271...3,981,138
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 2:198,338,005...198,346,007
Ensembl chr 2:195,649,845...195,655,411

G

lymphotoxin alpha

associated with Sarcoidosis;DNA:polymorphism:intron

RGD

NCBI chr20:3,622,291...3,625,852
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 chr20:3,314,491...3,322,815

G

tumor necrosis factor

susceptibility

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

RGD

NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629

G

vitamin D receptor

susceptibility

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

RGD

NCBI chr 7:130,864,764...130,916,757
Ensembl chr 7:128,987,981...129,037,677

Experimental Autoimmune Myasthenia Gravis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

actin related protein 2/3 complex, subunit 5

treatment

RGD

NCBI chr13:67,454,379...67,463,288
Ensembl chr13:64,887,136...64,913,410

G

complement C3

RGD

PMID:17962462 PMID:147324

RGD:7401263, RGD:11040804

NCBI chr 9:2,174,412...2,201,339
Ensembl chr 9:2,087,437...2,114,429

G

complement C6

susceptibility

RGD

NCBI chr 2:55,573,596...55,648,857
Ensembl chr 2:53,851,985...53,921,275

G

CD40 ligand

treatment

RGD

NCBI chr X:140,164,341...140,176,057
Ensembl chr X:135,126,969...135,138,306

G

complement factor B

treatment

RGD

NCBI chr20:3,975,271...3,981,138
Ensembl chr20:3,951,474...3,976,505

G

cholinergic receptor nicotinic alpha 1 subunit

treatment

RGD

NCBI chr 3:78,862,286...78,877,353
Ensembl chr 3:58,454,744...58,469,840

G

cathepsin L

mRNA:increased expression:quadriceps (rat)

RGD

NCBI chr17:770,104...776,266
Ensembl chr17:764,309...770,548

G

C-X-C motif chemokine ligand 10

RGD

PMID:19232748 PMID:15843529

RGD:2311364, RGD:1598501

NCBI chr14:15,989,066...15,991,263
Ensembl chr14:15,704,758...15,706,975

G

C-X-C motif chemokine ligand 9

RGD

NCBI chr14:16,007,166...16,012,077
Ensembl chr14:15,722,908...15,728,435

G

C-X-C motif chemokine receptor 3

RGD

PMID:15843529 PMID:19232748

RGD:1598501, RGD:2311364

NCBI chr X:70,884,293...70,886,944
Ensembl chr X:66,844,318...66,846,969

G

interleukin 15

protein:increased expression:skeletal muscle

RGD

NCBI chr19:42,536,160...42,611,349
Ensembl chr19:25,640,251...25,706,820

G

interleukin 23 receptor

mRNA:increased expression:lymph node

RGD

NCBI chr 4:97,910,230...98,003,759
Ensembl chr 4:96,580,714...96,674,021

G

interleukin 2 receptor subunit alpha

RGD

NCBI chr17:71,759,802...71,808,475
Ensembl chr17:66,849,974...66,898,697

G

interleukin 4 receptor

protein:increased expression:skeletal muscle

RGD

NCBI chr 1:189,545,739...189,570,639
Ensembl chr 1:180,115,120...180,139,980

G

muscle associated receptor tyrosine kinase

RGD

NCBI chr 5:77,853,560...77,967,653
Ensembl chr 5:73,058,121...73,171,932

G

myogenin

RGD

NCBI chr13:48,297,476...48,300,065
Ensembl chr13:45,745,436...45,748,039

G

receptor-associated protein of the synapse

protein:decreased expression:neuromuscular junction

RGD

NCBI chr 3:97,470,891...97,480,196
Ensembl chr 3:76,983,471...77,024,373

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 3:110,297,340...110,329,526
Ensembl chr 3:89,842,399...89,874,478

G

C-C motif chemokine ligand 2

protein:decreased expression:plasma

RGD

NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,005,424...67,007,226

G

catechol-O-methyltransferase

severity

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

RGD

NCBI chr11:96,072,371...96,091,956
Ensembl chr11:82,568,025...82,587,642

G

interleukin 1 receptor antagonist

severity

protein:increased expression:serum (human)

RGD

NCBI chr 3:27,509,836...27,525,738
Ensembl chr 3:7,111,550...7,127,445

Hailey-Hailey disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATPase secretory pathway Ca2+ transporting 1

ClinVar Annotator: match by term: ATP2C1-related condition | ClinVar Annotator: match by term: Familial benign pemphigus
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:3978039 PMID:10615129 PMID:10767338 PMID:11450592 PMID:11841554 More...

NCBI chr 8:114,913,551...115,034,706
Ensembl chr 8:106,034,636...106,156,006

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 1:43,511,685...43,904,454
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 6:100,589,553...100,645,240
Ensembl chr 6:94,809,547...94,908,919

G

interleukin 4

no_association

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

RGD

NCBI chr10:38,272,003...38,277,549
Ensembl chr10:37,771,203...37,776,750

G

interleukin 4 receptor

no_association

DNA:SNPs:promoter, exons:multiple

RGD

NCBI chr 1:189,545,739...189,570,639
Ensembl chr 1:180,115,120...180,139,980

hereditary spastic paraplegia 23

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

dual serine/threonine and tyrosine protein kinase

ClinVar Annotator: match by term: DSTYK-related condition | ClinVar Annotator: match by term: Hereditary spastic paraplegia 23
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:17273976 PMID:23862974 PMID:25741868 PMID:27657687 PMID:28492532 More...

NCBI chr13:46,409,412...46,457,426
Ensembl chr13:43,857,266...43,905,269

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 chr20:4,550,594...4,560,182
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 8:113,784,372...113,833,033
Ensembl chr 8:104,905,586...104,954,236

G

acrosin binding protein

CTD Direct Evidence: marker/mechanism

NCBI chr 4:159,537,395...159,550,454
Ensembl chr 4:157,841,841...157,864,213

G

adenylate cyclase 7

CTD Direct Evidence: marker/mechanism

NCBI chr19:34,913,154...34,972,366
Ensembl chr19:18,740,875...18,776,311

G

arachidonate 12-lipoxygenase, 12S type

CTD Direct Evidence: marker/mechanism

NCBI chr10:55,456,923...55,469,239
Ensembl chr10:54,958,271...54,970,542

G

ankyrin repeat domain 9

CTD Direct Evidence: marker/mechanism

NCBI chr 6:135,827,355...135,830,002
Ensembl chr 6:129,998,486...130,008,923

G

aminopeptidase O

CTD Direct Evidence: marker/mechanism

NCBI chr17:1,817,001...2,133,008
Ensembl chr17:1,811,980...2,127,331

G

aquaporin 9

CTD Direct Evidence: marker/mechanism

NCBI chr 8:80,678,027...80,718,273
Ensembl chr 8:71,797,234...71,837,395

G

amphiregulin

CTD Direct Evidence: marker/mechanism

NCBI chr14:17,256,384...17,265,641
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 7:97,675,354...97,982,523
Ensembl chr 7:95,787,818...96,092,754

G

AVL9 cell migration associated

CTD Direct Evidence: marker/mechanism

NCBI chr 4:87,291,062...87,338,537
Ensembl chr 4:85,961,635...86,008,791

G

beta-1,4-galactosyltransferase 5

CTD Direct Evidence: marker/mechanism

NCBI chr 3:176,437,073...176,453,001
Ensembl chr 3:156,018,053...156,070,074

G

BEN domain containing 2

CTD Direct Evidence: marker/mechanism

NCBI chr X:36,997,518...37,093,363

G

bridge-like lipid transfer protein family member 3B

CTD Direct Evidence: marker/mechanism

NCBI chr 7:26,068,948...26,149,033
Ensembl chr 7:24,181,644...24,261,720

G

BTG anti-proliferation factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:33,228,149...33,230,406
Ensembl chr 7:31,341,027...31,343,649

G

BTG anti-proliferation factor 3

CTD Direct Evidence: marker/mechanism

NCBI chr11:30,517,068...30,532,981
Ensembl chr11:17,030,160...17,046,170

G

complement C8 beta chain

CTD Direct Evidence: marker/mechanism

NCBI chr 5:124,763,974...124,801,522
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 9:56,037,234...56,076,793
Ensembl chr 9:48,568,409...48,584,831

G

caldesmon 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:64,232,906...64,414,085
Ensembl chr 4:63,265,942...63,446,932

G

calmodulin regulated spectrin-associated protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:29,144,318...29,206,382
Ensembl chr 3:8,746,176...8,806,072

G

coiled-coil domain containing 122

ClinVar Annotator: match by term: JUVENILE ARTHRITIS

NCBI chr15:58,816,927...58,899,200
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 8:132,629,097...132,660,980
Ensembl chr 8:123,752,325...123,759,260

G

CD14 molecule

CTD Direct Evidence: marker/mechanism

NCBI chr18:28,609,558...28,611,409
Ensembl chr18:28,335,340...28,337,261

G

CD83 molecule

CTD Direct Evidence: marker/mechanism

NCBI chr17:21,093,281...21,113,223
Ensembl chr17:20,887,309...20,907,083

G

CD8 subunit beta

CTD Direct Evidence: marker/mechanism

NCBI chr 4:104,870,911...104,886,838
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 chr10:5,646,854...5,694,393
Ensembl chr10:5,140,178...5,187,440

G

clusterin

CTD Direct Evidence: marker/mechanism

NCBI chr15:44,336,619...44,375,861
Ensembl chr15:40,174,617...40,200,315

G

CKLF-like MARVEL transmembrane domain containing 2B

CTD Direct Evidence: marker/mechanism

NCBI chr19:647,273...667,683
Ensembl chr19:640,824...651,939

G

cAMP responsive element modulator

CTD Direct Evidence: marker/mechanism

NCBI chr17:58,932,011...59,001,160
Ensembl chr17:54,239,030...54,305,989

G

C-reactive protein

protein:increased expression:serum

RGD

NCBI chr13:87,694,062...87,695,978
Ensembl chr13:85,124,977...85,175,178

G

cytotoxic T-lymphocyte-associated protein 4

CTD Direct Evidence: marker/mechanism

NCBI chr 9:69,812,859...69,819,959
Ensembl chr 9:62,319,312...62,324,963

G

cortactin

CTD Direct Evidence: marker/mechanism

NCBI chr 1:209,029,048...209,064,577
Ensembl chr 1:199,599,710...199,635,164

G

C-X-C motif chemokine ligand 1

CTD Direct Evidence: marker/mechanism

NCBI chr14:17,477,542...17,479,321
Ensembl chr14:17,193,365...17,195,215

G

C-X-C motif chemokine ligand 3

CTD Direct Evidence: marker/mechanism

NCBI chr14:17,571,900...17,573,624
Ensembl chr14:17,270,146...17,289,511

G

C-X-C motif chemokine receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 9:83,178,645...83,185,017
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 chr13:42,630,383...42,634,288
Ensembl chr13:40,077,976...40,081,883

G

death associated protein kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr17:3,935,826...4,096,858
Ensembl chr17:3,930,213...4,090,991

G

DNA-damage inducible transcript 3

CTD Direct Evidence: marker/mechanism

NCBI chr 7:65,001,695...65,006,517
Ensembl chr 7:63,116,380...63,121,201

G

dual specificity phosphatase 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:17,184,853...17,187,646

G

dual specificity phosphatase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 3:135,009,636...135,011,821
Ensembl chr 3:114,556,325...114,558,499

G

dual specificity phosphatase 4

CTD Direct Evidence: marker/mechanism

NCBI chr16:64,079,893...64,101,396
Ensembl chr16:57,377,229...57,398,138

G

dysferlin

CTD Direct Evidence: marker/mechanism

NCBI chr 4:118,048,460...118,248,273
Ensembl chr 4:116,490,616...116,690,709

G

epidermal growth factor

CTD Direct Evidence: marker/mechanism

NCBI chr 2:220,893,660...220,976,331
Ensembl chr 2:218,219,415...218,302,064

G

early growth response 1

CTD Direct Evidence: marker/mechanism

NCBI chr18:26,737,078...26,740,877
Ensembl chr18:26,462,981...26,466,766

G

E74 like ETS transcription factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 2:137,445,787...137,536,512
Ensembl chr 2:135,294,906...135,385,947

G

ethanolamine kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:177,857,001...177,901,278
Ensembl chr 4:176,126,180...176,193,770

G

ETS variant transcription factor 6

CTD Direct Evidence: marker/mechanism

NCBI chr 4:168,580,405...168,819,817
Ensembl chr 4:166,847,686...167,084,992

G

FAM20A, golgi associated secretory pathway pseudokinase

CTD Direct Evidence: marker/mechanism

NCBI chr10:95,136,799...95,197,176
Ensembl chr10:94,642,850...94,697,672

G

fatty acid hydroxylase domain containing 2

CTD Direct Evidence: marker/mechanism

NCBI chr10:42,747,323...42,772,156
Ensembl chr10:42,246,868...42,271,871

G

Fc gamma receptor 1A

CTD Direct Evidence: marker/mechanism

NCBI chr 2:186,539,941...186,548,941
Ensembl chr 2:183,851,077...183,859,994

G

FCH and double SH3 domains 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:164,775,916...165,097,391
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 6:110,852,188...110,855,054
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 1:88,082,324...88,089,506
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 6:30,017,952...30,039,269
Ensembl chr 6:24,300,956...24,320,034

G

forkhead box P1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:133,117,346...133,808,647
Ensembl chr 4:131,564,756...132,112,258

G

growth arrest and DNA-damage-inducible, alpha

CTD Direct Evidence: marker/mechanism

NCBI chr 4:97,484,497...97,486,799
Ensembl chr 4:96,154,789...96,157,115

G

guanosine monophosphate reductase

CTD Direct Evidence: marker/mechanism

NCBI chr17:19,357,992...19,395,807
Ensembl chr17:19,151,815...19,189,621

G

G protein subunit gamma 11

CTD Direct Evidence: marker/mechanism

NCBI chr 4:32,977,681...32,983,121
Ensembl chr 4:32,023,003...32,028,442

G

glycoprotein Ib platelet subunit beta

CTD Direct Evidence: marker/mechanism

NCBI chr11:95,882,561...95,883,738
Ensembl chr11:82,378,199...82,379,392

G

glutathione S-transferase theta 1

susceptibility

DNA:deletion: :

RGD

NCBI chr20:12,856,068...12,873,020
Ensembl chr20:12,856,669...12,873,585

G

H2B clustered histone 8

CTD Direct Evidence: marker/mechanism

NCBI chr17:47,404,405...47,405,155

G

heparin-binding EGF-like growth factor

CTD Direct Evidence: marker/mechanism

NCBI chr18:28,380,337...28,390,220
Ensembl chr18:28,105,760...28,116,441

G

HERPUD family member 2

CTD Direct Evidence: marker/mechanism

NCBI chr 8:31,849,216...31,894,219
Ensembl chr 8:23,573,379...23,617,874

G

homeostatic iron regulator

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

RGD

NCBI chr17:41,841,302...41,849,359
Ensembl chr17:41,413,451...41,421,502

G

histone cluster 1 H2A family member F

CTD Direct Evidence: marker/mechanism

NCBI chr17:41,807,261...41,807,653
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 chr13:85,805,911...85,807,052

G

heat shock protein family D (Hsp60) member 1

protein:increased expression:serum,synovial fluid:

RGD

NCBI chr 9:64,073,610...64,084,332
Ensembl chr 9:56,579,201...56,589,662

G

insulin-like growth factor 1 receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 1:130,959,787...131,248,664
Ensembl chr 1:121,550,743...121,831,777

G

interleukin 1 alpha

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

RGD

NCBI chr 3:136,979,804...136,990,236
Ensembl chr 3:116,526,604...116,536,822

G

interleukin 1 receptor antagonist

CTD Direct Evidence: marker/mechanism

NCBI chr 3:27,509,836...27,525,738
Ensembl chr 3:7,111,550...7,127,445

G

interleukin 2

protein:increased expression:mononuclear cell

RGD

NCBI chr 2:121,932,968...121,937,672
Ensembl chr 2:120,004,862...120,009,566

G

interleukin 6

protein:increased expression:serum:

RGD

NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,213,394...5,219,178

G

integrin subunit alpha 2b

CTD Direct Evidence: marker/mechanism

NCBI chr10:87,908,697...87,926,225
Ensembl chr10:87,408,536...87,426,168

G

integrin subunit beta 5

CTD Direct Evidence: marker/mechanism

NCBI chr11:80,333,588...80,449,373
Ensembl chr11:66,829,285...66,944,472

G

jumonji domain containing 1C

CTD Direct Evidence: marker/mechanism

NCBI chr20:21,330,990...21,508,580
Ensembl chr20:21,332,147...21,463,122

G

Jun proto-oncogene, AP-1 transcription factor subunit

CTD Direct Evidence: marker/mechanism

NCBI chr 5:115,009,900...115,012,993
Ensembl chr 5:109,893,145...109,897,656

G

lysine acetyltransferase 6B

CTD Direct Evidence: marker/mechanism

NCBI chr15:2,688,535...2,861,443
Ensembl chr15:2,639,200...2,812,316

G

potassium inwardly-rectifying channel, subfamily J, member 15

CTD Direct Evidence: marker/mechanism

NCBI chr11:48,046,953...48,091,285
Ensembl chr11:34,577,363...34,621,952

G

KLF transcription factor 4

CTD Direct Evidence: marker/mechanism

NCBI chr 5:75,074,107...75,079,182
Ensembl chr 5:70,278,972...70,283,602

G

KRAS proto-oncogene, GTPase

CTD Direct Evidence: marker/mechanism

NCBI chr 4:179,916,255...179,949,613

G

laccase domain containing 1

ClinVar Annotator: match by term: JUVENILE ARTHRITIS

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

NCBI chr15:58,799,477...58,816,840
Ensembl chr15:52,395,183...52,407,545

G

leukocyte immunoglobulin like receptor A5

CTD Direct Evidence: marker/mechanism

NCBI chr 1:79,011,865...79,073,860
Ensembl chr 1:69,973,292...70,001,718

G

LIM domain containing preferred translocation partner in lipoma

CTD Direct Evidence: marker/mechanism

NCBI chr11:89,292,060...89,933,973
Ensembl chr11:75,797,078...76,422,597

G

mitotic arrest deficient 1 like 1

CTD Direct Evidence: marker/mechanism

NCBI chr12:19,434,782...19,744,574
Ensembl chr12:14,320,892...14,630,703

G

MAF bZIP transcription factor F

CTD Direct Evidence: marker/mechanism

NCBI chr 7:112,792,787...112,804,139
Ensembl chr 7:110,912,499...110,923,851

G

mastermind-like transcriptional coactivator 2

CTD Direct Evidence: marker/mechanism

NCBI chr 8:18,552,480...18,869,923
Ensembl chr 8:10,268,665...10,587,107

G

microtubule-associated protein 2

CTD Direct Evidence: marker/mechanism

NCBI chr 9:75,173,038...75,431,606
Ensembl chr 9:67,723,371...67,979,809

G

mitogen activated protein kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr11:97,462,025...97,529,193
Ensembl chr11:83,957,813...84,023,616

G

mannose binding lectin 2

RGD

NCBI chr 1:237,429,873...237,465,567

G

mex-3 RNA binding family member C

CTD Direct Evidence: marker/mechanism

NCBI chr18:69,442,850...69,463,843
Ensembl chr18:67,166,718...67,188,595

G

membrane spanning 4-domains A4A

CTD Direct Evidence: marker/mechanism

NCBI chr 1:217,495,704...217,510,019
Ensembl chr 1:208,046,971...208,085,119

G

moesin

CTD Direct Evidence: marker/mechanism

NCBI chr X:65,005,546...65,073,512
Ensembl chr X:60,995,951...61,065,628

G

MTSS I-BAR domain containing 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:92,378,228...92,517,444
Ensembl chr 7:90,488,754...90,627,968

G

myocardial zonula adherens protein

CTD Direct Evidence: marker/mechanism

NCBI chr 8:81,036,599...81,123,933
Ensembl chr 8:72,131,530...72,243,036

G

nudE neurodevelopment protein 1-like 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:54,001,435...54,080,909
Ensembl chr10:53,516,491...53,570,907

G

nuclear receptor subfamily 4, group A, member 2

CTD Direct Evidence: marker/mechanism

NCBI chr 3:62,098,739...62,115,926
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 5:67,157,141...67,198,287
Ensembl chr 5:62,361,822...62,402,733

G

neuregulin 1

CTD Direct Evidence: marker/mechanism

NCBI chr16:65,954,084...67,007,484
Ensembl chr16:59,250,854...60,296,884

G

oxidized low density lipoprotein receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:164,612,460...164,635,082
Ensembl chr 4:162,926,439...162,948,523

G

oncostatin M

CTD Direct Evidence: marker/mechanism

NCBI chr14:83,327,202...83,332,073
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 7:116,385,571...116,478,609
Ensembl chr 7:114,505,152...114,598,546

G

phosphate cytidylyltransferase 1B, choline

CTD Direct Evidence: marker/mechanism

NCBI chr X:62,371,934...62,465,460
Ensembl chr X:58,378,116...58,468,935

G

period circadian regulator 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:54,299,002...54,313,804
Ensembl chr10:53,805,535...53,814,431

G

phosphoglucomutase 5

CTD Direct Evidence: marker/mechanism

NCBI chr 1:231,752,052...231,939,812
Ensembl chr 1:222,325,643...222,513,437

G

plasminogen activator, urokinase receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 1:89,181,363...89,196,308
Ensembl chr 1:80,050,324...80,068,595

G

polo-like kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 2:43,702,536...43,708,305
Ensembl chr 2:41,969,176...41,974,947

G

procollagen lysine, 2-oxoglutarate 5-dioxygenase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 8:101,964,318...102,047,022
Ensembl chr 8:93,084,513...93,167,255

G

protein S

CTD Direct Evidence: marker/mechanism

NCBI chr11:13,676,310...13,757,858
Ensembl chr11:230,696...311,286

G

protein tyrosine phosphatase, non-receptor type 22

DNA: snp : cds : rs2476601

RGD

NCBI chr 2:194,055,165...194,103,209
Ensembl chr 2:191,366,808...191,414,779

G

R3H domain containing 2

CTD Direct Evidence: marker/mechanism

NCBI chr 7:65,097,685...65,225,863
Ensembl chr 7:63,232,346...63,340,540

G

RasGEF domain family, member 1B

CTD Direct Evidence: marker/mechanism

NCBI chr14:10,164,366...10,684,184
Ensembl chr14:9,860,247...10,379,741

G

RNA binding motif protein 47

CTD Direct Evidence: marker/mechanism

NCBI chr14:42,407,226...42,545,304
Ensembl chr14:42,154,142...42,189,431

G

arginine-glutamic acid dipeptide repeats

CTD Direct Evidence: marker/mechanism

NCBI chr 5:166,048,770...166,380,559
Ensembl chr 5:160,765,934...161,097,677

G

similar to RIKEN cDNA 3110043O21

CTD Direct Evidence: marker/mechanism

NCBI chr 5:54,562,570...54,587,649
Ensembl chr 5:49,766,325...49,791,408

G

Rho-related BTB domain containing 1

CTD Direct Evidence: marker/mechanism

NCBI chr20:19,326,197...19,455,182
Ensembl chr20:19,327,155...19,403,012

G

ring finger protein 103

CTD Direct Evidence: marker/mechanism

NCBI chr 4:105,084,762...105,100,839
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 chr20:4,577,057...4,581,650
Ensembl chr20:4,575,134...4,579,744

G

RT1 class II, locus Bb

DNA:polymorphism (human)

RGD

NCBI chr20:4,598,475...4,604,118
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 chr20:4,550,594...4,560,182
Ensembl chr20:4,548,666...4,558,258

G

selectin P

severity

protein:increased expression:plasma

RGD

NCBI chr13:79,009,379...79,044,994
Ensembl chr13:76,476,295...76,511,845

G

SH2 domain containing 2A

RGD

NCBI chr 2:175,610,127...175,616,685
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 8:93,341,104...93,433,143
Ensembl chr 8:84,461,121...84,551,564

G

salt-inducible kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr20:9,947,104...9,958,729
Ensembl chr20:9,947,396...9,958,991

G

signal-induced proliferation-associated 1 like 1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:107,570,569...107,849,613
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 9:83,406,327...83,417,252
Ensembl chr 9:75,957,316...75,968,101

G

solute carrier family 22 member 16

CTD Direct Evidence: marker/mechanism

NCBI chr20:45,527,275...45,647,675
Ensembl chr20:43,972,836...44,065,019

G

solute carrier family 26 member 2

susceptibility

DNA:SNPs: :

RGD

NCBI chr18:56,918,662...56,937,032
Ensembl chr18:54,652,951...54,666,626

G

solute carrier family 2 member 3

CTD Direct Evidence: marker/mechanism

NCBI chr 4:157,632,887...157,698,034
Ensembl chr 4:155,960,946...156,025,472

G

SMAD family member 3

CTD Direct Evidence: marker/mechanism

NCBI chr 8:73,022,204...73,132,324
Ensembl chr 8:64,110,039...64,236,960

G

stabilin 1

CTD Direct Evidence: marker/mechanism

NCBI chr16:6,336,871...6,367,374
Ensembl chr16:6,330,444...6,360,923

G

signal transducer and activator of transcription 3

CTD Direct Evidence: marker/mechanism

NCBI chr10:86,311,528...86,363,513
Ensembl chr10:85,811,218...85,863,057

G

stromal interaction molecule 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:166,067,450...166,230,733
Ensembl chr 1:156,656,013...156,818,363

G

transcription factor 7 like 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:264,791,335...264,984,225
Ensembl chr 1:254,786,091...254,978,967

G

transcription factor Dp-1

CTD Direct Evidence: marker/mechanism

NCBI chr16:82,864,220...82,903,166
Ensembl chr16:76,162,043...76,200,817

G

tissue factor pathway inhibitor

CTD Direct Evidence: marker/mechanism

NCBI chr 3:89,939,862...89,989,253
Ensembl chr 3:69,533,156...69,576,880

G

thrombomodulin

protein:increased expression:serum

RGD

NCBI chr 3:156,316,526...156,320,178
Ensembl chr 3:135,862,835...135,867,193

G

thrombospondin 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:125,510,250...125,525,402
Ensembl chr 3:105,056,292...105,071,440

G

TNF alpha induced protein 6

CTD Direct Evidence: marker/mechanism

NCBI chr 3:56,911,398...56,930,797
Ensembl chr 3:36,502,188...36,521,649

G

TNF alpha induced protein 8

CTD Direct Evidence: marker/mechanism

NCBI chr18:45,370,334...45,486,036
Ensembl chr18:43,183,916...43,299,517

G

tumor necrosis factor receptor superfamily, member 22

CTD Direct Evidence: marker/mechanism

NCBI chr 1:208,269,844...208,285,823
Ensembl chr 1:198,840,453...198,856,309

G

TRAF2 and NCK interacting kinase

CTD Direct Evidence: marker/mechanism

NCBI chr 2:113,112,937...113,511,341
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 9:20,133,193...20,139,933
Ensembl chr 9:12,635,590...12,642,347

G

tubulin tyrosine ligase like 5

CTD Direct Evidence: marker/mechanism

NCBI chr 6:111,214,048...111,431,892
Ensembl chr 6:105,483,191...105,700,934

G

tubulin, beta 2A class IIa

CTD Direct Evidence: marker/mechanism

NCBI chr17:31,002,186...31,006,057
Ensembl chr17:30,747,503...30,800,714

G

ubiquitin-conjugating enzyme E2E 1

CTD Direct Evidence: marker/mechanism

NCBI chr15:9,870,528...9,924,194
Ensembl chr15:7,439,759...7,493,400

G

ubiquitin protein ligase E3C

CTD Direct Evidence: marker/mechanism

NCBI chr 4:6,323,831...6,425,085
Ensembl chr 4:5,648,690...5,750,011

G

WASP family member 3

CTD Direct Evidence: marker/mechanism

NCBI chr12:13,675,642...13,774,648
Ensembl chr12:8,562,062...8,660,751

G

WW domain-containing oxidoreductase

CTD Direct Evidence: marker/mechanism

NCBI chr19:59,338,402...60,269,323
Ensembl chr19:42,432,152...43,359,391

G

zinc finger AN1-type containing 3

CTD Direct Evidence: marker/mechanism

NCBI chr20:8,084,898...8,281,093
Ensembl chr20:8,082,200...8,279,616

G

zinc finger, C3H1-type containing

CTD Direct Evidence: marker/mechanism

NCBI chr 7:52,894,417...52,950,755
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 8:78,986,252...79,022,638
Ensembl chr 8:70,105,253...70,141,658

G

annexin A5

disease_progression

protein:increased expression:chondrocyte:

RGD

NCBI chr 2:121,242,133...121,272,935
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:67,135,317...67,304,476
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 3:129,549,236...129,555,354
Ensembl chr 3:109,095,729...109,101,766

G

BCL2 associated X, apoptosis regulator

treatment

RGD

NCBI chr 1:105,076,472...105,081,906
Ensembl chr 1:95,938,808...95,945,368

G

BCL2, apoptosis regulator

treatment

RGD

NCBI chr13:23,204,464...23,366,900
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 2:176,136,341...176,137,318
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 8:132,611,883...132,619,106
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 4:18,209,088...18,302,142
Ensembl chr 4:17,354,466...17,513,903

G

catenin beta 1

protein:increased expression:cartilage:

RGD

NCBI chr 8:129,517,576...129,544,661
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 8:63,449,148...63,476,534
Ensembl chr 8:54,553,165...54,580,758

G

discoidin domain receptor tyrosine kinase 2

ameliorates

RGD

NCBI chr13:84,726,412...84,851,032
Ensembl chr13:82,195,463...82,317,363

G

diacylglycerol O-acyltransferase 2

severity

mRNA,protein:increased expression:fat pad:

RGD

NCBI chr 1:162,866,237...162,896,655
Ensembl chr 1:153,454,080...153,484,428

G

dickkopf WNT signaling pathway inhibitor 1

RGD

NCBI chr 1:237,794,969...237,798,650
Ensembl chr 1:228,381,521...228,385,202

G

eukaryotic translation elongation factor 1 alpha 1

RGD

NCBI chr 8:88,221,839...88,225,688
Ensembl chr 8:79,341,557...79,344,839

G

EGF containing fibulin extracellular matrix protein 1

protein:increased expression:serum:

RGD

NCBI chr14:106,811,769...106,890,961
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 6:13,543,252...13,626,147
Ensembl chr 6:7,790,647...7,871,228

G

erythropoietin

treatment

RGD

NCBI chr12:24,841,285...24,844,725
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 1:43,511,685...43,904,454
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 6:100,589,553...100,645,240
Ensembl chr 6:94,809,547...94,908,919

G

coagulation factor II, thrombin

RGD

NCBI chr 3:98,051,958...98,065,246
Ensembl chr 3:77,596,198...77,609,486

G

fibroblast growth factor receptor 3

treatment

RGD

NCBI chr14:81,211,800...81,227,215
Ensembl chr14:76,987,993...77,003,341

G

growth differentiation factor 5

CTD Direct Evidence: marker/mechanism

NCBI chr 3:164,914,401...164,918,593
Ensembl chr 3:144,454,338...144,458,612

G

glutathione-disulfide reductase

protein:increased expression:synovial fluid

RGD

NCBI chr16:65,185,574...65,228,742
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 chr12:11,009,236...11,015,941
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 chr16:37,721,374...37,723,950
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 6:135,523,604...135,529,687
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 7:24,169,608...24,249,446
Ensembl chr 7:22,282,930...22,359,296

G

insulin-like growth factor 1 receptor

RGD

NCBI chr 1:130,959,787...131,248,664
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 3:136,979,804...136,990,236
Ensembl chr 3:116,526,604...116,536,822

G

interleukin 2

severity

protein:increased expression:synovial fluid:

RGD

NCBI chr 2:121,932,968...121,937,672
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 chr10:38,272,003...38,277,549
Ensembl chr10:37,771,203...37,776,750

G

Klotho

susceptibility

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

RGD

NCBI chr12:5,326,003...5,367,016
Ensembl chr12:490,399...530,080

G

leptin

protein:decreased expression:serum:

RGD

NCBI chr 4:58,626,529...58,640,663
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 5:121,409,735...121,593,201
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 5:78,024,139...78,147,071
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 6:25,781,625...26,177,346
Ensembl chr 6:20,029,629...20,425,349

G

microRNA 219a-1

CTD Direct Evidence: therapeutic

NCBI chr20:4,831,580...4,831,689
Ensembl chr20:4,829,687...4,829,796

G

microRNA 223

RNA:increased expression:synovial membrane

RGD

NCBI chr X:65,151,383...65,151,492
Ensembl chr X:61,141,887...61,141,996

G

matrix metallopeptidase 1

treatment

RGD

NCBI chr 8:12,943,453...12,963,966
Ensembl chr 8:4,658,588...4,679,097

G

matrix metallopeptidase 13

ameliorates

RGD

NCBI chr 8:12,782,829...12,793,108
Ensembl chr 8:4,497,960...4,508,239

G

matrix metallopeptidase 3

treatment

RGD

NCBI chr 8:12,925,267...12,938,828
Ensembl chr 8:4,640,416...4,653,961

G

proenkephalin

treatment

RGD

NCBI chr 5:21,981,381...21,987,074
Ensembl chr 5:17,183,806...17,189,129

G

prostaglandin E synthase

RGD

NCBI chr 3:34,575,643...34,586,987

G

strawberry notch homolog 1

CTD Direct Evidence: marker/mechanism

NCBI chr12:37,835,306...37,895,861
Ensembl chr12:32,185,485...32,230,158

G

solute carrier family 26 member 2

susceptibility

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

RGD

NCBI chr18:56,918,662...56,937,032
Ensembl chr18:54,652,951...54,666,626

G

transforming growth factor alpha

protein:increased expression:cartilage

RGD

NCBI chr 4:120,175,549...120,258,342
Ensembl chr 4:118,618,269...118,700,894

G

vitamin D receptor

GAD

NCBI chr 7:130,864,764...130,916,757
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

LAMA5-RELATED MULTISYSTEMIC SYNDROME

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

laminin subunit alpha 5

ClinVar Annotator: match by term: LAMA5-related multisystemic syndrome

PMID:24130771 PMID:25741868 PMID:29377152 PMID:29534211

NCBI chr 3:187,647,904...187,695,974
Ensembl chr 3:167,270,296...167,318,451

Lambert-Eaton myasthenic syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

calcium voltage-gated channel subunit alpha1 A

NCBI chr19:40,425,560...40,724,810
Ensembl chr19:23,520,741...23,823,225

G

calcium voltage-gated channel subunit alpha1 B

RGD

NCBI chr 3:27,779,133...27,944,292
Ensembl chr 3:7,380,922...7,546,091

G

cholinergic receptor, muscarinic 1

RGD

NCBI chr 1:214,996,180...215,012,136
Ensembl chr 1:205,567,220...205,582,356

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 4:46,606,538...46,639,616
Ensembl chr 4:45,634,918...45,673,705

G

C-C motif chemokine ligand 2

mRNA,protein:increased expression:skin:

RGD

NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,005,424...67,007,226

G

C-C motif chemokine receptor 2

mRNA,protein:increased expression:skin:

RGD

NCBI chr 8:132,611,883...132,619,106
Ensembl chr 8:123,734,430...123,742,100

G

Fas cell surface death receptor

RGD

NCBI chr 1:241,212,155...241,245,774
Ensembl chr 1:231,798,960...231,832,591

G

Fas ligand

RGD

NCBI chr13:76,680,885...76,706,042
Ensembl chr13:74,154,954...74,162,215

G

interleukin 2

susceptibility

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

RGD

NCBI chr 2:121,932,968...121,937,672
Ensembl chr 2:120,004,862...120,009,566

G

Janus kinase 2

RGD

NCBI chr 1:236,408,905...236,468,769
Ensembl chr 1:226,995,334...227,054,189

G

kinase insert domain receptor

protein:increased expression:serum:

RGD

NCBI chr14:32,572,031...32,615,204
Ensembl chr14:32,217,871...32,261,018

G

placental growth factor

protein:increased expression:plasma

RGD

NCBI chr 6:110,547,165...110,557,747
Ensembl chr 6:104,816,104...104,826,685

G

serpin family E member 1

mRNA,protein:increased expression:skin:

RGD

NCBI chr12:25,237,977...25,248,356
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 9:56,964,617...57,080,523
Ensembl chr 9:49,419,340...49,588,540

G

transporter 2, ATP binding cassette subfamily B member

susceptibility

RGD

NCBI chr20:4,638,257...4,652,296
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 chr10:80,380,458...80,397,461
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 chr20:7,150,820...7,161,373
Ensembl chr20:7,149,217...7,159,585

G

colony stimulating factor 3

CTD Direct Evidence: therapeutic

NCBI chr10:84,157,485...84,159,860
Ensembl chr10:83,661,207...83,663,603

G

hepatocyte growth factor

treatment

RGD

NCBI chr 4:19,628,902...19,700,467
Ensembl chr 4:18,677,101...18,745,409

G

intercellular adhesion molecule 1

protein:increased expression:serum

RGD

NCBI chr 8:27,829,688...27,841,618
Ensembl chr 8:19,553,645...19,565,438

G

interleukin 13

protein:increased expression:serum

RGD

NCBI chr10:38,290,926...38,293,483
Ensembl chr10:37,790,130...37,792,737

G

lamin A/C

CTD Direct Evidence: marker/mechanism

NCBI chr 2:176,237,564...176,265,301
Ensembl chr 2:173,939,751...173,960,423

G

matrix metallopeptidase 1

RGD

NCBI chr 8:12,943,453...12,963,966
Ensembl chr 8:4,658,588...4,679,097

G

transforming growth factor, beta 1

RGD

NCBI chr 1:90,324,312...90,340,627
Ensembl chr 1:81,196,532...81,212,847

G

tumor necrosis factor

CTD Direct Evidence: marker/mechanism

NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629

lupus erythematosus

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CD1d1 molecule

ameliorates

RGD

NCBI chr 2:174,721,522...174,725,029
Ensembl chr 2:172,423,582...172,427,089

lupus nephritis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

advanced glycosylation end product-specific receptor

DNA:polymorphisms:promoter, intron:g.-429T>C rs1800625, g.-374T>A rs1800624, g.2184A>G rs3134940 (human)

RGD

NCBI chr20:4,152,758...4,155,956
Ensembl chr20:4,147,890...4,151,078

G

apolipoprotein C3

protein:increased expression:serum

RGD

NCBI chr 8:55,428,172...55,430,352
Ensembl chr 8:46,531,478...46,533,583

G

complement C3

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

CTD
RGD

PMID:31182691 PMID:21888025

NCBI chr 9:2,174,412...2,201,339
Ensembl chr 9:2,087,437...2,114,429

G

C-C motif chemokine ligand 2

severity
susceptibility

protein:increased expression:urine (human)
DNA:snp:promoter:g.-2518A>G (human)

RGD

PMID:8558841 PMID:15188361

RGD:8549732, RGD:11528534

NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,005,424...67,007,226

G

C-C motif chemokine ligand 3

RGD

NCBI chr10:68,948,889...68,950,439
Ensembl chr10:68,451,388...68,452,938

G

C-C motif chemokine receptor 1

disease_progression

RGD

NCBI chr 8:132,433,711...132,439,266

G

CD40 molecule

treatment

RGD

PMID:23799000 PMID:18566369 PMID:19265127

RGD:7248418, RGD:7248429, RGD:7248425

NCBI chr 3:174,209,113...174,224,592
Ensembl chr 3:153,790,449...153,805,534

G

CD40 ligand

treatment

protein:increased expression:serum

RGD

PMID:20726330 PMID:11751940 PMID:12632425 PMID:13130474 PMID:15693003

RGD:7248426, RGD:7248714, RGD:7248710, RGD:7248600, RGD:7248439

NCBI chr X:140,164,341...140,176,057
Ensembl chr X:135,126,969...135,138,306

G

complement factor B

RGD

PMID:10623824 PMID:3183062 PMID:21893562

RGD:7242736, RGD:7242763, RGD:7242755

NCBI chr20:3,975,271...3,981,138
Ensembl chr20:3,951,474...3,976,505

G

complement factor H

RGD

NCBI chr13:54,063,079...54,164,523
Ensembl chr13:51,511,828...51,613,838

G

clusterin

mRNA:increased expression: epithelial cell of renal tubule

RGD

NCBI chr15:44,336,619...44,375,861
Ensembl chr15:40,174,617...40,200,315

G

collagen type I alpha 1 chain

associated with Graft vs Host Disease
mRNA, protein:increased expression:kidney cortex

RGD

PMID:21354048 PMID:7700025 PMID:7723234

RGD:5688301, RGD:5688333, RGD:5688332

NCBI chr10:80,380,458...80,397,461
Ensembl chr10:79,883,622...79,900,624

G

C-reactive protein

no_association

DNA:SNP

RGD

PMID:18852001 PMID:17596285 PMID:20039408 PMID:15692982

RGD:6907400, RGD:5508454, RGD:6909146, RGD:6909145

NCBI chr13:87,694,062...87,695,978
Ensembl chr13:85,124,977...85,175,178

G

colony stimulating factor 1

RGD

PMID:21885670 PMID:17659436

RGD:7257567, RGD:7257589

NCBI chr 2:198,065,400...198,084,774
Ensembl chr 2:195,377,215...195,411,704

G

cytotoxic T-lymphocyte-associated protein 4

RGD

NCBI chr 9:69,812,859...69,819,959
Ensembl chr 9:62,319,312...62,324,963

G

epidermal growth factor

RGD

NCBI chr 2:220,893,660...220,976,331
Ensembl chr 2:218,219,415...218,302,064

G

Fas cell surface death receptor

CTD Direct Evidence: marker/mechanism

PMID:33632240 PMID:38555047

NCBI chr 1:241,212,155...241,245,774
Ensembl chr 1:231,798,960...231,832,591

G

Fc gamma receptor 2A

DNA:missense mutation:cds:p.H131R (human)
ClinVar Annotator: match by term: Lupus nephritis, susceptibility to

PMID:8636449 PMID:9843982 PMID:10675363 PMID:15367919 PMID:19915573 More...

NCBI chr13:85,813,516...85,830,269
Ensembl chr13:83,280,784...83,295,967

G

Fc gamma receptor 2B

RGD

NCBI chr13:85,725,897...85,740,517
Ensembl chr13:83,193,163...83,207,778

G

Fc gamma receptor 3A

susceptibility

DNA:SNP:cds:p.V158F (human)

RGD

NCBI chr13:85,782,636...85,792,656
Ensembl chr13:83,249,872...83,259,921

G

interferon gamma

protein:increased expression:serum,urine
CTD Direct Evidence: marker/mechanism
protein:increased processing:kidney

CTD
RGD

PMID:31182691 PMID:22764573 PMID:29925830

RGD:6893369, RGD:14974252

NCBI chr 7:55,789,180...55,793,216
Ensembl chr 7:53,903,337...53,907,375

G

interleukin 17A

treatment

RGD

NCBI chr 9:30,640,844...30,644,331
Ensembl chr 9:23,144,402...23,147,889

G

interleukin 18

RGD

NCBI chr 8:59,802,072...59,829,275
Ensembl chr 8:50,906,960...50,932,887

G

interleukin 1 beta

mRNA:increased expression:renal glomerulus (mouse)

RGD

PMID:21641991 PMID:20410215

RGD:7175315, RGD:7175344

NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:116,577,010...116,583,415

G

interleukin 1 receptor antagonist

resistance

associated with Lupus Erythematosus, Systemic; protein:increased expression:serum (human)

RGD

NCBI chr 3:27,509,836...27,525,738
Ensembl chr 3:7,111,550...7,127,445

G

integrin subunit alpha M

RGD

NCBI chr 1:192,089,496...192,139,947
Ensembl chr 1:182,659,000...182,709,503

G

Janus kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:120,895,606...121,004,207
Ensembl chr 5:115,780,248...115,888,926

G

kallikrein B1

susceptibility

DNA:SNPs:promoter:

RGD

NCBI chr16:53,690,180...53,714,570
Ensembl chr16:46,958,707...46,982,053

G

mannose binding lectin 2

disease_progression

DNA:polymorphism:exon:

RGD

NCBI chr 1:237,429,873...237,465,567

G

microRNA 125a

RNA:decreased expression:kidney

RGD

NCBI chr 1:67,350,675...67,350,759
Ensembl chr 1:58,677,626...58,677,710

G

matrix metallopeptidase 2

CTD Direct Evidence: marker/mechanism

NCBI chr19:30,327,643...30,355,856
Ensembl chr19:14,154,657...14,182,870

G

matrix metallopeptidase 9

CTD Direct Evidence: marker/mechanism

NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:153,683,858...153,692,120

G

myeloperoxidase

susceptibility

DNA:polymorphism: :−463G > A (human)

RGD

NCBI chr10:73,092,124...73,102,057
Ensembl chr10:72,594,661...72,604,819

G

mechanistic target of rapamycin kinase

RGD

NCBI chr 5:164,167,985...164,277,438
Ensembl chr 5:158,884,804...158,994,311

G

mucin 20, cell surface associated

RGD

NCBI chr11:67,987,816...68,001,496
Ensembl chr11:67,987,800...68,001,495

G

nuclear receptor subfamily 3, group C, member 1

RGD

PMID:21509671 PMID:17880936

RGD:7174713, RGD:7174734

NCBI chr18:31,522,783...31,644,508
Ensembl chr18:31,271,681...31,393,375

G

OTU deubiquitinase, ubiquitin aldehyde binding 1

protein:increased expression:kidney

RGD

NCBI chr 1:213,816,400...213,824,679
Ensembl chr 1:204,387,215...204,395,483

G

programmed cell death 1

onset

DNA:polymorphism: :
DNA:polymorphism:intron:6867 C>T (human)

RGD

PMID:15934088 PMID:21041733 PMID:15352422

RGD:7248675, RGD:7248678, RGD:7248676

NCBI chr 9:101,866,124...101,879,278
Ensembl chr 9:94,418,791...94,431,937

G

RT1 class II, locus Ba

susceptibility

DNA:polymorphisms:cds:HLA-DQA1*0101 (human)
DNA:polymorphisms:cds:HLA-DQA1*0102 (human)

NCBI chr20:4,577,057...4,581,650
Ensembl chr20:4,575,134...4,579,744

G

RT1 class II, locus Db1

susceptibility

DNA:polymorphisms:cds:HLA-DRB1*1501 (human)

NCBI chr20:4,550,594...4,560,182
Ensembl chr20:4,548,666...4,558,258

G

selectin L

RGD

NCBI chr13:78,950,100...78,969,604
Ensembl chr13:76,416,915...76,436,456

G

serpin family G member 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:90,249,410...90,259,299
Ensembl chr 3:69,842,739...69,852,034

G

small nuclear ribonucleoprotein polypeptide E

treatment

mouse model

RGD

NCBI chr13:47,596,324...47,609,390
Ensembl chr13:45,050,986...45,057,310
Ensembl chr 8:45,050,986...45,057,310

G

signal transducer and activator of transcription 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:56,911,522...56,951,926
Ensembl chr 9:49,419,340...49,588,540

G

signal transducer and activator of transcription 4

RGD

NCBI chr 9:56,964,617...57,080,523
Ensembl chr 9:49,419,340...49,588,540

G

signal transducer and activator of transcription 6

disease_progression

RGD

NCBI chr 7:65,365,505...65,382,825
Ensembl chr 7:63,479,642...63,498,495

G

toll-like receptor 7

RGD

NCBI chr X:30,644,324...30,670,796
Ensembl chr X:27,027,425...27,054,754

G

toll-like receptor 9

severity
treatment
no_association

mRNA, protein:increased expression:kidney (mouse)
associated with Graft vs Host Disease
protein:increased expression:renal glomerulus (human)
associated with Lupus Erythematosus, Systemic; DNA:snps:promoter, intron:g.-1486T>C, g.+1174A>G (rs187084, rs352139) (human, North Indian)
DNA:snps:intron, exon:g.+1174G>A, g.+1635C>T (rs352139, rs352140) (human, Chinese)

RGD

PMID:23467932 PMID:17469139 PMID:21127878 PMID:19578108 PMID:22787315 More...

RGD:7245987, RGD:7246911, RGD:7246897, RGD:7246896, RGD:7245989, RGD:7246884

NCBI chr 8:115,743,407...115,747,523
Ensembl chr 8:106,864,680...106,868,796

G

tumor necrosis factor

protein:increased expression:glomerular mesangial cell

RGD

NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629

G

TNF receptor superfamily member 11B

associated with Lupus Erythematosus, Systemic;protein:increased expression:urine

RGD

NCBI chr 7:87,456,318...87,484,324
Ensembl chr 7:85,566,520...85,594,538

G

TNF receptor superfamily member 1A

severity

RGD

PMID:19201910 PMID:10906156

RGD:7245569, RGD:7245572

NCBI chr 4:159,837,119...159,849,817
Ensembl chr 4:158,150,820...158,163,591

G

TNF receptor superfamily member 1B

treatment

RGD

PMID:22846145 PMID:22674120

RGD:7245541, RGD:7245544

NCBI chr 5:162,356,250...162,387,411
Ensembl chr 5:157,070,642...157,104,206

G

vascular cell adhesion molecule 1

severity

protein:increased expression:urine

RGD

NCBI chr 2:206,723,050...206,742,783
Ensembl chr 2:204,038,114...204,057,958

Lupus Vasculitis, Central Nervous System

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Fc gamma receptor 3A

CTD Direct Evidence: marker/mechanism

NCBI chr13:85,782,636...85,792,656
Ensembl chr13:83,249,872...83,259,921

G

internexin neuronal intermediate filament protein, alpha

severity

RGD

NCBI chr 1:245,896,775...245,908,330
Ensembl chr 1:245,896,775...245,908,330

G

integrin subunit alpha M

CTD Direct Evidence: marker/mechanism

NCBI chr 1:192,089,496...192,139,947
Ensembl chr 1:182,659,000...182,709,503

G

selectin P

RGD

NCBI chr13:79,009,379...79,044,994
Ensembl chr13:76,476,295...76,511,845

mixed connective tissue disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Fas cell surface death receptor

protein:increased expression:serum (human)

RGD

NCBI chr 1:241,212,155...241,245,774
Ensembl chr 1:231,798,960...231,832,591

G

fibrillin 1

RGD

NCBI chr 3:133,007,693...133,204,277
Ensembl chr 3:112,554,925...112,750,889

G

interferon gamma

protein:increased expression:serum:

RGD

NCBI chr 7:55,789,180...55,793,216
Ensembl chr 7:53,903,337...53,907,375

G

RT1 class II, locus Db1

DNA:polymorphism:cds:HLA-DRB1*04 (human)

RGD

NCBI chr20:4,550,594...4,560,182
Ensembl chr20:4,548,666...4,558,258

G

small nuclear ribonucleoprotein polypeptides B and B1

RGD

NCBI chr 3:137,824,870...137,832,479
Ensembl chr 3:117,370,100...117,379,339

G

small nuclear ribonucleoprotein polypeptide C

associated with Hypertension, Pulmonary

RGD

NCBI chr20:5,890,229...5,908,410
Ensembl chr20:5,888,453...5,906,638
Ensembl chr10:5,888,453...5,906,638

G

toll-like receptor 3

RGD

NCBI chr16:53,554,916...53,572,321
Ensembl chr16:46,822,039...46,836,545

G

tumor necrosis factor

protein:increased expression:serum:

RGD

NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629

myasthenia gravis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

acetylcholinesterase

RGD

NCBI chr12:25,042,882...25,050,608
Ensembl chr12:19,407,360...19,413,651

G

adrenoceptor beta 2

DNA:polymorphisms:cds:p.R16G,Q27E(human)

RGD

NCBI chr18:57,912,760...57,914,802
Ensembl chr18:55,502,903...55,644,512

G

complement factor B

CTD Direct Evidence: marker/mechanism

NCBI chr20:3,975,271...3,981,138
Ensembl chr20:3,951,474...3,976,505

G

cholinergic receptor, muscarinic 1

RGD

NCBI chr 1:214,996,180...215,012,136
Ensembl chr 1:205,567,220...205,582,356

G

C-X-C motif chemokine ligand 10

RGD

NCBI chr14:15,989,066...15,991,263
Ensembl chr14:15,704,758...15,706,975

G

C-X-C motif chemokine receptor 3

RGD

NCBI chr X:70,884,293...70,886,944
Ensembl chr X:66,844,318...66,846,969

G

cytochrome P450, family 3, subfamily a, polypeptide 9

ClinVar Annotator: match by term: refractory myasthenia gravis

PMID:11279519 PMID:11740341 PMID:12065767 PMID:12754175 PMID:15492926

NCBI chr12:21,919,955...21,960,160
Ensembl chr12:16,806,207...16,846,422

G

estrogen receptor 2

RGD

NCBI chr 6:100,589,553...100,645,240
Ensembl chr 6:94,809,547...94,908,919

G

Fas cell surface death receptor

protein:increased expression:peripheral blood, T lymphocyte (human)
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:15169653 PMID:23043710

NCBI chr 1:241,212,155...241,245,774
Ensembl chr 1:231,798,960...231,832,591

G

interleukin 2 receptor subunit beta

DNA:SNP, haplotype:intron:c.-33-11362T>C (rs743777) (human)

RGD

NCBI chr 7:111,913,828...111,928,537
Ensembl chr 7:110,033,341...110,048,054

G

muscle associated receptor tyrosine kinase

treatment
severity

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

CTD
RGD

PMID:22981737 PMID:27119269 PMID:22218276 PMID:26025053

RGD:38599166, RGD:38599165

NCBI chr 5:77,853,560...77,967,653
Ensembl chr 5:73,058,121...73,171,932

G

proopiomelanocortin

CTD Direct Evidence: therapeutic

NCBI chr 6:32,659,137...32,665,175
Ensembl chr 6:26,939,837...26,945,664

G

protein tyrosine phosphatase, non-receptor type 22

DNA: snp: cds: 1858T

RGD

NCBI chr 2:194,055,165...194,103,209
Ensembl chr 2:191,366,808...191,414,779

G

RT1 class II, locus Ba

susceptibility

DNA:polymorphisms: :HLA-DQA1*0101/2, HLA-DQA1*0501 (human)
DNA:polymorphisms, haplotype:cds:HLA-DQA!*0501, HLA-DQA1*0301 (human)

RGD

PMID:19561379 PMID:10593018

RGD:5147612, RGD:5147855

NCBI chr20:4,577,057...4,581,650
Ensembl chr20:4,575,134...4,579,744

G

RT1 class II, locus Bb

susceptibility

DNA:polymorphisms: :HLA-DBQ1*0301, HLA-DBQ1*0502, HLA-DBQ1*0602/3 (human)
DNA:polymorphism, haplotype:cds:HLA-DQB1*0302 (human)

RGD

PMID:19561379 PMID:10593018

RGD:5147612, RGD:5147855

NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,596,559...4,607,597

G

RT1 class II, locus Db1

susceptibility
onset

DNA:polymorphism: :HLA-DRB1∗09,HLA- DRB1∗08(human)
DNA:polymorphism: :HLA-DRB1*0901, HLA-DRB1*1302(human)

RGD

PMID:21924912 PMID:15003812

RGD:7365051, RGD:7365079

NCBI chr20:4,550,594...4,560,182
Ensembl chr20:4,548,666...4,558,258

G

RT1 class II, locus Hb, pseudogene 1

CTD Direct Evidence: marker/mechanism

NCBI chr20:4,777,494...4,781,486
Ensembl chr20:4,774,650...4,780,618

G

zinc finger and SCAN domain containing 25

ClinVar Annotator: match by term: refractory myasthenia gravis

PMID:11279519 PMID:11740341 PMID:12065767 PMID:12754175 PMID:15492926

NCBI chr12:9,327,347...9,338,206
Ensembl chr12:9,326,404...9,338,221

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 chr20:4,654,068...4,657,049
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 6:128,631,101...128,653,125
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 chr18:70,620,310...70,648,417
Ensembl chr18:68,345,012...68,373,249

G

aggrecan

treatment

RGD

PMID:22833446 PMID:21853458

RGD:11570535, RGD:11570544

NCBI chr 1:142,390,951...142,453,779
Ensembl chr 1:132,981,582...133,043,627

G

aconitase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:60,055,895...60,111,920
Ensembl chr 5:55,259,827...55,316,391

G

actin, beta

CTD Direct Evidence: marker/mechanism

NCBI chr12:16,776,664...16,779,634
Ensembl chr12:11,663,109...11,672,877

G

ADAM metallopeptidase domain 12

susceptibility

RGD

NCBI chr 1:198,116,968...198,443,680
Ensembl chr 1:188,686,989...189,020,667

G

ADAM metallopeptidase domain 15

RGD

NCBI chr 2:177,052,363...177,062,879
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 chr20:29,685,876...29,762,685
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 chr13:86,203,011...86,212,500
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 chr11:38,486,945...38,533,516
Ensembl chr11:25,000,637...25,047,205

G

adhesion G protein-coupled receptor G2

CTD Direct Evidence: marker/mechanism

NCBI chr X:38,106,067...38,231,286
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 chr20:4,152,758...4,155,956
Ensembl chr20:4,147,890...4,151,078

G

adenylate kinase 4

CTD Direct Evidence: marker/mechanism

NCBI chr 5:121,154,565...121,214,403
Ensembl chr 5:116,039,616...116,098,618

G

aldo-keto reductase family 1, member C1

CTD Direct Evidence: marker/mechanism

NCBI chr17:70,720,397...70,747,285
Ensembl chr17:65,810,475...65,837,326

G

aldo-keto reductase family 1, member C2

CTD Direct Evidence: marker/mechanism

NCBI chr17:70,669,684...70,717,935
Ensembl chr17:65,759,788...65,775,764

G

aldehyde dehydrogenase 1 family, member A2

CTD Direct Evidence: marker/mechanism

NCBI chr 8:80,758,641...80,837,891
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 1:89,700,645...89,729,782
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:75,159,635...75,267,094
Ensembl chr X:71,094,202...71,198,354

G

BCL2-associated agonist of cell death

RGD

NCBI chr 1:213,562,719...213,572,034
Ensembl chr 1:204,131,501...204,142,823

G

BAG cochaperone 6

susceptibility

DNA:SNP: :rs3117582(human)

RGD

NCBI chr20:3,680,607...3,693,329
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 1:105,076,472...105,081,906
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 chr13:23,204,464...23,366,900
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 chr10:86,731,649...86,747,002
Ensembl chr10:86,231,388...86,246,742

G

bone gamma-carboxyglutamate protein

disease_progression

RGD

NCBI chr 2:176,136,341...176,137,318
Ensembl chr 2:173,838,518...173,839,495

G

bone morphogenetic protein 2

susceptibility

RGD

NCBI chr 3:141,264,648...141,275,416
Ensembl chr 3:120,812,882...120,821,397

G

bone morphogenetic protein 4

CTD Direct Evidence: marker/mechanism

NCBI chr15:22,098,191...22,113,145
Ensembl chr15:19,618,542...19,623,306

G

bone morphogenetic protein 6

CTD Direct Evidence: marker/mechanism

NCBI chr17:26,523,704...26,785,558
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 3:182,059,318...182,135,273
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 chr16:9,740,751...9,786,861
Ensembl chr16:9,736,630...9,780,616

G

calcitonin-related polypeptide alpha

CTD Direct Evidence: marker/mechanism

NCBI chr 1:178,312,636...178,317,588
Ensembl chr 1:168,878,214...168,883,105

G

caspase 3

treatment

RGD

NCBI chr16:52,395,539...52,413,794
Ensembl chr16:45,662,910...45,684,648

G

caspase 9

treatment

RGD

Ensembl chr 5:154,109,046...154,126,626

G

caveolin 1

RGD

NCBI chr 4:46,606,538...46,639,616
Ensembl chr 4:45,634,918...45,673,705

G

C-C motif chemokine ligand 22

protein:increased expression:plasma:

RGD

NCBI chr19:10,263,589...10,270,359
Ensembl chr19:10,257,601...10,264,400

G

C-C motif chemokine receptor 4

protein:increased expression:synovial membrane:

RGD

NCBI chr 8:123,054,505...123,060,244
Ensembl chr 8:114,176,974...114,178,056

G

CD36 molecule

susceptibility

RGD

NCBI chr 4:18,209,088...18,302,142
Ensembl chr 4:17,354,466...17,513,903

G

cyclin-dependent kinase inhibitor 2A

treatment

RGD

NCBI chr 5:109,100,763...109,114,448
Ensembl chr 5:103,984,949...104,003,149

G

CCAAT/enhancer binding protein beta

susceptibility

RGD

NCBI chr 3:176,817,005...176,818,436
Ensembl chr 3:156,397,052...156,399,473

G

chitinase 3 like 1

CTD Direct Evidence: marker/mechanism

NCBI chr13:48,193,839...48,201,822
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 8:131,687,575...131,693,292
Ensembl chr 8:122,810,149...122,815,835

G

chloride intracellular channel 1

CTD Direct Evidence: marker/mechanism

NCBI chr20:3,769,522...3,778,367
Ensembl chr20:3,761,461...3,773,712

G

chloride intracellular channel 4

CTD Direct Evidence: marker/mechanism

NCBI chr 5:152,737,371...152,797,118
Ensembl chr 5:147,453,712...147,513,452

G

clusterin

CTD Direct Evidence: marker/mechanism

PMID:17568789 PMID:18784066

NCBI chr15:44,336,619...44,375,861
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 2:204,509,136...204,702,264
Ensembl chr 2:201,820,715...202,013,853

G

collagen type I alpha 1 chain

no_association

DNA:SNP:intron:IVS1

RGD

NCBI chr10:80,380,458...80,397,461
Ensembl chr10:79,883,622...79,900,624

G

collagen type I alpha 2 chain

CTD Direct Evidence: marker/mechanism

NCBI chr 4:33,518,557...33,553,484
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 7:130,977,561...131,006,627
Ensembl chr 7:129,098,786...129,127,546

G

collagen type VI alpha 2 chain

CTD Direct Evidence: marker/mechanism

NCBI chr20:12,021,182...12,048,932
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 chr16:19,081,172...19,089,548
Ensembl chr16:19,047,207...19,055,845

G

cathepsin D

CTD Direct Evidence: marker/mechanism

NCBI chr 1:206,956,945...206,968,821
Ensembl chr 1:197,527,467...197,539,488

G

cathepsin K

CTD Direct Evidence: marker/mechanism

NCBI chr 2:185,747,548...185,758,512
Ensembl chr 2:183,058,569...183,069,550

G

C-X-C motif chemokine ligand 2

CTD Direct Evidence: marker/mechanism

NCBI chr14:17,465,210...17,467,255
Ensembl chr14:17,181,062...17,183,075

G

C-X-C motif chemokine ligand 6

CTD Direct Evidence: marker/mechanism

NCBI chr14:17,594,959...17,596,417
Ensembl chr14:17,310,426...17,313,093

G

dual adaptor of phosphotyrosine and 3-phosphoinositides 1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:229,099,319...229,148,868
Ensembl chr 2:226,425,898...226,475,423

G

discoidin domain receptor tyrosine kinase 2

disease_progression

RGD

NCBI chr13:84,726,412...84,851,032
Ensembl chr13:82,195,463...82,317,363

G

DEAD-box helicase 3, X-linked

CTD Direct Evidence: marker/mechanism

NCBI chr X:12,152,346...12,165,983
Ensembl chr X:9,479,532...9,493,168

G

dipeptidase 1

CTD Direct Evidence: marker/mechanism

NCBI chr19:68,118,270...68,143,781
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 7:9,183,836...9,196,255
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 1:212,211,057...212,218,739
Ensembl chr 1:202,781,665...202,789,414

G

early growth response 1

RGD

NCBI chr18:26,737,078...26,740,877
Ensembl chr18:26,462,981...26,466,766

G

enolase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:166,002,867...166,014,252
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 1:22,518,051...22,583,044
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 6:13,543,252...13,626,147
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 1:88,099,308...88,135,966
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 chr11:48,148,149...48,370,472
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 5:166,606,841...166,620,124
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 1:43,511,685...43,904,454
Ensembl chr 1:41,210,475...41,495,002

G

estrogen receptor 2

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

RGD

NCBI chr 6:100,589,553...100,645,240
Ensembl chr 6:94,809,547...94,908,919

G

electron transfer flavoprotein subunit alpha

CTD Direct Evidence: marker/mechanism

NCBI chr 8:64,731,192...64,787,965
Ensembl chr 8:55,835,134...55,891,969

G

ezrin

CTD Direct Evidence: marker/mechanism

NCBI chr 1:49,373,033...49,416,573
Ensembl chr 1:46,967,658...47,011,505

G

Fc gamma receptor 2A

RGD

NCBI chr13:85,813,516...85,830,269
Ensembl chr13:83,280,784...83,295,967

G

fibroblast growth factor 18

CTD Direct Evidence: marker/mechanism

NCBI chr10:18,210,240...18,241,929
Ensembl chr10:17,706,174...17,736,818

G

Fibroblast growth factor receptor 1

RGD

NCBI chr16:73,194,631...73,249,855
Ensembl chr16:66,494,042...66,547,350

G

Fms related receptor tyrosine kinase 1

mRNA:increased expression:trabecular bone:

RGD

NCBI chr12:12,333,050...12,504,750
Ensembl chr12:7,297,292...7,468,626

G

fibronectin 1

protein:increased expression:cartilage:

RGD

NCBI chr 9:80,645,507...80,714,200
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 3:85,739,162...85,772,168
Ensembl chr 3:65,332,277...65,365,208

G

ferritin light chain 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:105,072,858...105,074,705
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 4:159,648,592...159,653,436
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 3:164,914,401...164,918,593
Ensembl chr 3:144,454,338...144,458,612

G

growth hormone 1

protein:increased expression:plasma

RGD

NCBI chr10:91,727,883...91,729,860
Ensembl chr10:91,228,103...91,230,078

G

growth hormone receptor

DNA:deletion:exon:

RGD

NCBI chr 2:54,269,066...54,532,595
Ensembl chr 2:52,542,594...52,804,735

G

glutaminase

CTD Direct Evidence: marker/mechanism

NCBI chr 9:56,836,584...56,908,861
Ensembl chr 9:49,344,781...49,416,900

G

glutathione S-transferase kappa 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:72,085,532...72,089,934
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 6:31,907,801...31,947,434
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 chr17:41,841,302...41,849,359
Ensembl chr17:41,413,451...41,421,502

G

3-hydroxyisobutyryl-CoA hydrolase

CTD Direct Evidence: marker/mechanism

NCBI chr 9:56,082,082...56,161,796
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 6:98,357,788...98,405,068
Ensembl chr 6:92,624,390...92,669,261

G

high mobility group box 1

RGD

NCBI chr12:11,009,236...11,015,941
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 1:143,447,925...143,467,248
Ensembl chr 1:134,029,772...134,058,025

G

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

CTD Direct Evidence: marker/mechanism

NCBI chr 8:63,867,882...63,887,223
Ensembl chr 8:54,971,740...54,991,084

G

interferon, alpha 1

treatment

RGD

NCBI chr 5:108,143,240...108,143,809
Ensembl chr 5:103,097,356...103,097,925

G

insulin-like growth factor 1

protein:decreased expression:blood:

RGD

NCBI chr 7:24,169,608...24,249,446
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 1:130,959,787...131,248,664
Ensembl chr 1:121,550,743...121,831,777

G

insulin-like growth factor 2

mRNA:increased expression:cartilage

RGD

NCBI chr 1:207,243,873...207,261,263
Ensembl chr 1:197,814,410...197,823,018

G

insulin-like growth factor binding protein 3

RGD

NCBI chr14:86,270,208...86,277,944
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 9:83,952,986...83,959,203
Ensembl chr 9:76,504,315...76,510,532

G

interleukin 1 alpha

protein:increased expression:chonodrocyte:

RGD

NCBI chr 3:136,979,804...136,990,236
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 3:137,030,200...137,036,581
Ensembl chr 3:116,577,010...116,583,415

G

interleukin 4 receptor

protein:increased expression:serum

RGD

NCBI chr 1:189,545,739...189,570,639
Ensembl chr 1:180,115,120...180,139,980

G

interleukin 5

RGD

NCBI chr10:38,375,132...38,378,003
Ensembl chr10:37,874,342...37,877,213

G

inner membrane mitochondrial protein

CTD Direct Evidence: marker/mechanism

NCBI chr 4:105,438,657...105,477,370
Ensembl chr 4:103,880,459...103,919,109

G

insulin 2

protein:increased expression:blood:

RGD

NCBI chr 1:207,272,738...207,421,998
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 3:144,859,453...144,894,883
Ensembl chr 3:124,406,794...124,442,209

G

leptin

severity

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

RGD

NCBI chr 4:58,626,529...58,640,663
Ensembl chr 4:57,661,131...57,675,262

G

galectin 3

CTD Direct Evidence: marker/mechanism

NCBI chr15:23,099,795...23,111,731
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 1:212,458,362...212,475,302
Ensembl chr 1:203,029,877...203,045,975

G

matrilin 3

susceptibility

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 chr10:28,349,996...28,350,090
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 5:165,815,952...165,816,053
Ensembl chr 5:160,533,002...160,533,103

G

matrix metallopeptidase 1

protein:increased expression:plasma (human)

RGD

NCBI chr 8:12,943,453...12,963,966
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 8:12,782,829...12,793,108
Ensembl chr 8:4,497,960...4,508,239

G

matrix metallopeptidase 2

protein:increased expression:synovial fluid (human)

RGD

NCBI chr19:30,327,643...30,355,856
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 8:12,925,267...12,938,828
Ensembl chr 8:4,640,416...4,653,961

G

matrix metallopeptidase 8

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

RGD

NCBI chr 8:13,008,873...13,018,729
Ensembl chr 8:4,724,029...4,733,520

G

matrix metallopeptidase 9

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

RGD

NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:153,683,858...153,692,120

G

moesin

CTD Direct Evidence: marker/mechanism

NCBI chr X:65,005,546...65,073,512
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 5:164,167,985...164,277,438
Ensembl chr 5:158,884,804...158,994,311

G

major vault protein

CTD Direct Evidence: marker/mechanism

NCBI chr 1:191,025,259...191,052,866
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 8:119,617,077...119,623,215
Ensembl chr 8:110,738,661...110,744,816

G

N-acyl phosphatidylethanolamine phospholipase D

protein:increased expression:spinal cord

RGD

NCBI chr 4:14,251,591...14,291,010
Ensembl chr 4:13,361,006...13,398,748

G

nuclear receptor co-repressor 2

susceptibility

RGD

NCBI chr12:37,127,736...37,289,612
Ensembl chr12:31,466,412...31,628,319

G

NADH:ubiquinone oxidoreductase core subunit S8

CTD Direct Evidence: marker/mechanism

NCBI chr 1:210,569,823...210,573,707
Ensembl chr 1:201,140,585...201,144,511

G

NADH:ubiquinone oxidoreductase core subunit V1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:210,729,856...210,735,103
Ensembl chr 1:201,299,985...201,305,466

G

nuclear factor of activated T-cells 1

treatment

RGD

NCBI chr18:76,321,386...76,430,997
Ensembl chr18:74,046,904...74,156,028

G

nerve growth factor

treatment

RGD

PMID:33806315 PMID:25677108

RGD:402463969, RGD:402463970

NCBI chr 2:192,589,580...192,642,971
Ensembl chr 2:189,901,058...189,954,452

G

NME/NM23 nucleoside diphosphate kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chr10:79,394,999...79,400,418
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 chr11:84,612,943...84,690,025
Ensembl chr11:71,109,873...71,185,109

G

prolyl 3-hydroxylase 3

CTD Direct Evidence: marker/mechanism

NCBI chr 4:159,332,514...159,348,428
Ensembl chr 4:157,646,243...157,662,035

G

programmed cell death 6 interacting protein

CTD Direct Evidence: marker/mechanism

NCBI chr 8:122,469,223...122,524,993
Ensembl chr 8:113,590,998...113,646,773

G

pyruvate dehydrogenase E1 subunit alpha 1

CTD Direct Evidence: marker/mechanism

NCBI chr X:38,509,158...38,522,986
Ensembl chr X:34,700,409...34,714,311

G

platelet and endothelial cell adhesion molecule 1

mRNA:increased expression:tibia (rat)

RGD

NCBI chr10:92,090,263...92,152,002
Ensembl chr10:91,590,521...91,652,116

G

phosphoinositide-3-kinase regulatory subunit 1

mRNA:increased expression:cartilage tissue (human)

RGD

NCBI chr 2:34,612,946...34,697,660
Ensembl chr 2:32,882,032...32,963,631

G

phospholipase C, delta 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:127,672,955...127,695,939
Ensembl chr 8:118,795,201...118,818,186

G

procollagen lysine, 2-oxoglutarate 5-dioxygenase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 8:101,964,318...102,047,022
Ensembl chr 8:93,084,513...93,167,255

G

plastin 3

CTD Direct Evidence: marker/mechanism

NCBI chr X:116,401,247...116,495,898
Ensembl chr X:111,589,254...111,683,891

G

proopiomelanocortin

RGD

NCBI chr 6:32,659,137...32,665,175
Ensembl chr 6:26,939,837...26,945,664

G

POU class 3 homeobox 3

CTD Direct Evidence: marker/mechanism

NCBI chr 9:52,438,026...52,441,152
Ensembl chr 9:44,945,872...44,948,992

G

peroxisome proliferator-activated receptor gamma

CTD Direct Evidence: marker/mechanism

NCBI chr 4:150,095,743...150,221,104
Ensembl chr 4:148,423,194...148,548,468

G

protein phosphatase 2 scaffold subunit A alpha

CTD Direct Evidence: marker/mechanism

NCBI chr 1:69,213,198...69,232,441
Ensembl chr 1:60,540,194...60,560,129

G

proteasome 20S subunit beta 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:65,115,770...65,136,516
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 chr13:64,714,063...64,722,320
Ensembl chr13:62,163,932...62,172,188

G

RAN, member RAS oncogene family

CTD Direct Evidence: marker/mechanism

NCBI chr12:33,311,155...33,314,339
Ensembl chr12:27,674,050...27,678,276

G

reticulocalbin 3

CTD Direct Evidence: marker/mechanism

NCBI chr 1:104,700,969...104,710,228
Ensembl chr 1:95,564,380...95,573,725

G

RUNX family transcription factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 9:23,661,278...23,990,248
Ensembl chr 9:16,167,482...16,492,167

G

S100 calcium-binding protein A4

CTD Direct Evidence: marker/mechanism

NCBI chr 2:178,388,529...178,390,838
Ensembl chr 2:176,091,804...176,093,254

G

secernin 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:84,962,450...85,024,577
Ensembl chr 4:83,632,131...83,693,852

G

syndecan binding protein

CTD Direct Evidence: marker/mechanism

NCBI chr 5:24,245,279...24,314,712
Ensembl chr 5:19,489,961...19,527,572

G

succinate dehydrogenase complex flavoprotein subunit A

CTD Direct Evidence: marker/mechanism

NCBI chr 1:30,764,553...30,789,523
Ensembl chr 1:28,940,164...28,961,535

G

Sec23 homolog A, COPII coat complex component

CTD Direct Evidence: marker/mechanism

NCBI chr 6:82,393,699...82,442,594
Ensembl chr 6:76,658,427...76,706,035

G

serpin family A member 1

RGD

NCBI chr 6:128,631,101...128,653,125
Ensembl chr 6:122,866,312...122,888,339

G

sarcoglycan, gamma

CTD Direct Evidence: marker/mechanism

NCBI chr15:39,564,920...39,611,149
Ensembl chr15:35,386,534...35,435,148

G

solute carrier family 2 member 1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:138,002,522...138,030,742
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 8:73,022,204...73,132,324
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 1:50,043,323...50,050,168
Ensembl chr 1:47,636,528...47,645,189

G

terminal nucleotidyltransferase 5A

susceptibility

DNA:repeats: :

RGD

NCBI chr 8:95,102,349...95,109,100
Ensembl chr 8:86,225,357...86,229,045

G

tissue factor pathway inhibitor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 4:32,936,462...32,941,385
Ensembl chr 4:31,982,178...31,986,600

G

transforming growth factor, beta 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:90,324,312...90,340,627
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 5:66,449,348...66,506,371
Ensembl chr 5:61,653,233...61,710,777

G

transglutaminase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 3:167,192,612...167,221,845
Ensembl chr 3:146,772,687...146,801,981

G

toll-like receptor 8

ClinVar Annotator: match by term: Osteoarthritis

NCBI chr X:30,708,714...30,733,104
Ensembl chr X:27,091,778...27,116,549

G

TNF receptor superfamily member 10b

RGD

NCBI chr15:51,249,883...51,278,091
Ensembl chr15:44,840,386...44,867,467

G

TNF receptor superfamily member 11B

disease_progression

RGD

NCBI chr 7:87,456,318...87,484,324
Ensembl chr 7:85,566,520...85,594,538

G

TNF superfamily member 10

RGD

NCBI chr 2:112,136,550...112,155,903
Ensembl chr 2:110,207,916...110,225,135

G

TNF superfamily member 15

CTD Direct Evidence: marker/mechanism

NCBI chr 5:82,150,376...82,171,743
Ensembl chr 5:77,139,878...77,156,228

G

TNF receptor-associated protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:11,971,259...12,005,306
Ensembl chr10:11,464,821...11,498,981

G

tripartite motif-containing 2

CTD Direct Evidence: marker/mechanism

NCBI chr 2:171,798,654...171,950,193
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 chr12:47,599,161...47,638,143
Ensembl chr12:41,938,560...41,977,517

G

thioredoxin reductase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:22,717,620...22,802,553
Ensembl chr 7:20,830,045...20,907,863

G

voltage-dependent anion channel 2

CTD Direct Evidence: marker/mechanism

NCBI chr15:2,512,214...2,526,105
Ensembl chr15:2,463,056...2,476,553

G

vimentin

CTD Direct Evidence: marker/mechanism

PMID:16876394 PMID:18784066

NCBI chr17:81,577,261...81,585,746
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 6:46,664,358...46,694,875
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

ClinVar Annotator: match by term: Namaqualand hip dysplasia | ClinVar Annotator: match by term: Osteoarthritis with mild chondrodysplasia
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:1905723 PMID:1975693 PMID:1985108 PMID:7695699 PMID:7757086 More...

NCBI chr 7:130,977,561...131,006,627
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 chr10:86,731,649...86,747,002
Ensembl chr10:86,231,388...86,246,742

G

bone morphogenetic protein 4

RGD

NCBI chr15:22,098,191...22,113,145
Ensembl chr15:19,618,542...19,623,306

G

caspase 3

treatment

RGD

NCBI chr16:52,395,539...52,413,794
Ensembl chr16:45,662,910...45,684,648

G

caspase 6

treatment

RGD

NCBI chr 2:221,140,287...221,152,727
Ensembl chr 2:218,466,076...218,478,502

G

caspase 7

treatment

RGD

NCBI chr 1:265,442,647...265,481,938
Ensembl chr 1:255,437,172...255,476,729

G

caspase 8

treatment

RGD

NCBI chr 9:67,747,109...67,806,699
Ensembl chr 9:60,264,075...60,312,542

G

collagen type I alpha 1 chain

treatment

RGD

NCBI chr10:80,380,458...80,397,461
Ensembl chr10:79,883,622...79,900,624

G

discoidin domain receptor tyrosine kinase 2

treatment

RGD

NCBI chr13:84,726,412...84,851,032
Ensembl chr13:82,195,463...82,317,363

G

Fibroblast growth factor receptor 1

RGD

NCBI chr16:73,194,631...73,249,855
Ensembl chr16:66,494,042...66,547,350

G

Fms related receptor tyrosine kinase 1

RGD

NCBI chr12:12,333,050...12,504,750
Ensembl chr12:7,297,292...7,468,626

G

heat shock protein family A (Hsp70) member 1A

treatment

RGD

NCBI chr20:3,875,411...3,877,866
Ensembl chr20:3,856,006...3,873,227

G

LDL receptor related protein associated protein 1

mRNA:decreased expression:knee

RGD

NCBI chr14:79,876,002...79,888,011
Ensembl chr14:75,651,376...75,665,414

G

microtubule-associated protein 1 light chain 3 alpha

treatment

RGD

NCBI chr 3:164,243,204...164,244,850
Ensembl chr 3:143,783,024...143,784,670

G

mitogen activated protein kinase 3

RGD

NCBI chr 1:190,797,189...190,803,411
Ensembl chr 1:181,366,637...181,372,863

G

neural cell adhesion molecule 1

protein:decreased expression:skeletal joint

RGD

NCBI chr 8:58,762,088...59,062,131
Ensembl chr 8:49,865,633...50,166,014

G

serpin family F member 1

severity

RGD

NCBI chr10:60,748,504...60,760,898
Ensembl chr10:60,249,708...60,262,646

G

unc-51 like autophagy activating kinase 1

treatment

RGD

NCBI chr12:51,511,492...51,537,746
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 chr11:38,486,945...38,533,516
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 2:204,509,136...204,702,264
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 chr10:80,380,458...80,397,461
Ensembl chr10:79,883,622...79,900,624

G

cartilage oligomeric matrix protein

CTD Direct Evidence: marker/mechanism

NCBI chr16:19,081,172...19,089,548
Ensembl chr16:19,047,207...19,055,845

G

corticotropin releasing hormone receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:89,540,192...89,583,466
Ensembl chr10:89,040,203...89,083,481

G

diablo, IAP-binding mitochondrial protein

CTD Direct Evidence: marker/mechanism

NCBI chr12:38,716,668...38,731,285
Ensembl chr12:33,055,263...33,070,387

G

estrogen receptor 1

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

RGD

NCBI chr 1:43,511,685...43,904,454
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 3:85,739,162...85,772,168
Ensembl chr 3:65,332,277...65,365,208

G

growth hormone receptor

associated with Acromegaly;DNA:deletion:exon:

RGD

NCBI chr 2:54,269,066...54,532,595
Ensembl chr 2:52,542,594...52,804,735

G

histone deacetylase 9

CTD Direct Evidence: marker/mechanism

NCBI chr 6:56,489,472...57,351,654
Ensembl chr 6:50,763,590...51,625,333

G

homeostatic iron regulator

CTD Direct Evidence: marker/mechanism

NCBI chr17:41,841,302...41,849,359
Ensembl chr17:41,413,451...41,421,502

G

interleukin 11

CTD Direct Evidence: marker/mechanism

PMID:30374069 PMID:30664745

NCBI chr 1:78,098,622...78,104,915
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 1:189,545,739...189,570,639
Ensembl chr 1:180,115,120...180,139,980

G

inter-alpha trypsin inhibitor, heavy chain 1

CTD Direct Evidence: marker/mechanism

NCBI chr16:6,128,696...6,142,813
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 1:212,458,362...212,475,302
Ensembl chr 1:203,029,877...203,045,975

G

microtubule-associated protein tau

CTD Direct Evidence: marker/mechanism

NCBI chr10:89,638,618...89,736,108
Ensembl chr10:89,138,627...89,236,129

G

matrix metallopeptidase 13

mRNA, protein:increased expression:cartilage

RGD

NCBI chr 8:12,782,829...12,793,108
Ensembl chr 8:4,497,960...4,508,239

G

RUNX family transcription factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 9:23,661,278...23,990,248
Ensembl chr 9:16,167,482...16,492,167

G

SMAD family member 3

CTD Direct Evidence: marker/mechanism

NCBI chr 8:73,022,204...73,132,324
Ensembl chr 8:64,110,039...64,236,960

G

smoothened, frizzled class receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 4:59,311,084...59,341,280
Ensembl chr 4:58,343,529...58,373,829

G

tenascin C

CTD Direct Evidence: marker/mechanism

NCBI chr 5:82,391,340...82,476,197
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, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Infantile-onset periodic fever-panniculitis-dermatosis syndrome | ClinVar Annotator: match by term: OTULIN-related condition

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

NCBI chr 2:80,021,381...80,046,898
Ensembl chr 2:78,290,959...78,316,422

parapsoriasis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

RT1 class Ia, locus A2

CTD Direct Evidence: marker/mechanism

NCBI chr20:4,872,720...4,876,425

G

RT1 class I, locus CE16

CTD Direct Evidence: marker/mechanism

NCBI chr20:3,261,656...3,265,548
Ensembl chr20:3,257,123...3,279,563

pemphigus

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

complement C3

CTD Direct Evidence: marker/mechanism

NCBI chr 9:2,174,412...2,201,339
Ensembl chr 9:2,087,437...2,114,429

G

calpastatin

RGD

NCBI chr 2:5,707,633...5,817,213
Ensembl chr 2:3,973,112...4,082,659

G

catalase

protein:increased activities:skin:

RGD

NCBI chr 3:110,297,340...110,329,526
Ensembl chr 3:89,842,399...89,874,478

G

CD36 molecule

RGD

NCBI chr 4:18,209,088...18,302,142
Ensembl chr 4:17,354,466...17,513,903

G

CD40 molecule

RGD

NCBI chr 3:174,209,113...174,224,592
Ensembl chr 3:153,790,449...153,805,534

G

CD40 ligand

mRNA, protein:increased expression:skin, serum

RGD

NCBI chr X:140,164,341...140,176,057
Ensembl chr X:135,126,969...135,138,306

G

interleukin 2

RGD

NCBI chr 2:121,932,968...121,937,672
Ensembl chr 2:120,004,862...120,009,566

G

mannose binding lectin 2

protein:increased expression:skin:

RGD

NCBI chr 1:237,429,873...237,465,567

G

RT1 class II, locus Ba

DNA:polymorphisms:cds:HLA-DQA1*0104, HLA-DQA1*03011 (human)

RGD

NCBI chr20:4,577,057...4,581,650
Ensembl chr20:4,575,134...4,579,744

G

RT1 class II, locus Bb

DNA:polymorphisms:cds:HLA-DQB1*0302, HLA-DQB1*0502 (human)

RGD

NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,596,559...4,607,597

G

RT1 class II, locus Db1

susceptibility

DNA:polymorphisms (human)
DNA:polymorphism:cds:HLA-DRB1*0403, *0406, *1401, *1405, *1406 (human)

PMID:9347787 PMID:18780165

RGD:40818304, RGD:5147619

NCBI chr20:4,550,594...4,560,182
Ensembl chr20:4,548,666...4,558,258

pemphigus vulgaris

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

desmoglein 3

OMIM:169610

NCBI chr18:12,074,321...12,105,954
Ensembl chr18:11,798,900...11,830,818

G

RT1 class II, locus Bb

RGD

NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,596,559...4,607,597

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 2:104,059,184...104,061,048
Ensembl chr 2:102,143,055...102,144,919

G

C-reactive protein

treatment

RGD

NCBI chr13:87,694,062...87,695,978
Ensembl chr13:85,124,977...85,175,178

G

homeostatic iron regulator

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

RGD

NCBI chr17:41,841,302...41,849,359
Ensembl chr17:41,413,451...41,421,502

G

mannose binding lectin 2

DNA:polymorphism:cds:

RGD

NCBI chr 1:237,429,873...237,465,567

G

matrix metallopeptidase 3

RGD

NCBI chr 8:12,925,267...12,938,828
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 chr10:92,090,263...92,152,002
Ensembl chr10:91,590,521...91,652,116

polymyositis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

C-C motif chemokine receptor 2

protein:increased expression:limb muscle:

RGD

NCBI chr 8:132,611,883...132,619,106
Ensembl chr 8:123,734,430...123,742,100

G

C-X3-C motif chemokine ligand 1

protein:expression:serum

RGD

NCBI chr19:10,233,326...10,244,856
Ensembl chr19:10,227,340...10,236,833

G

cytochrome P450, family 27, subfamily b, polypeptide 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:64,756,626...64,761,570
Ensembl chr 7:62,871,297...62,876,241

G

elastin

RGD

NCBI chr12:27,604,983...27,648,413
Ensembl chr12:21,968,544...22,011,928

G

hepatocyte growth factor

disease_progression

protein:increased expression:serum:

RGD

NCBI chr 4:19,628,902...19,700,467
Ensembl chr 4:18,677,101...18,745,409

G

interferon gamma

mRNA:increased expression:skeletal muscle

RGD

NCBI chr 7:55,789,180...55,793,216
Ensembl chr 7:53,903,337...53,907,375

G

interleukin 18

protein:increased expression:serum

RGD

NCBI chr 8:59,802,072...59,829,275
Ensembl chr 8:50,906,960...50,932,887

G

interleukin 1 alpha

CTD Direct Evidence: marker/mechanism

NCBI chr 3:136,979,804...136,990,236
Ensembl chr 3:116,526,604...116,536,822

G

interleukin 1 beta

CTD Direct Evidence: marker/mechanism

NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:116,577,010...116,583,415

G

interleukin 4

mRNA:increased expression:skeletal muscle

RGD

NCBI chr10:38,272,003...38,277,549
Ensembl chr10:37,771,203...37,776,750

G

interleukin 6

CTD Direct Evidence: marker/mechanism

NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,213,394...5,219,178

G

matrix metallopeptidase 1

mRNA:increased expression:skeletal muscle

RGD

NCBI chr 8:12,943,453...12,963,966
Ensembl chr 8:4,658,588...4,679,097

G

matrix metallopeptidase 9

mRNA:increased expression:skeletal muscle

RGD

NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:153,683,858...153,692,120

G

PMS1 homolog 1, mismatch repair system component

RGD

NCBI chr 9:55,721,393...55,832,225
Ensembl chr 9:48,253,410...48,340,237

G

roundabout guidance receptor 1

mRNA,protein:increased expression:muscle

RGD

NCBI chr11:24,067,869...25,108,694
Ensembl chr11:10,580,908...11,620,203

G

slit guidance ligand 2

mRNA,protein:increased expression:muscle

RGD

NCBI chr14:66,829,661...67,168,517
Ensembl chr14:62,617,067...62,955,948

G

signal transducer and activator of transcription 4

susceptibility

DNA:SNP:intron: (rs7582694) (human)

RGD

NCBI chr 9:56,964,617...57,080,523
Ensembl chr 9:49,419,340...49,588,540

G

tumor necrosis factor

CTD Direct Evidence: marker/mechanism

NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629

G

TNF receptor superfamily member 1A

severity

protein:increased expression:serum

RGD

NCBI chr 4:159,837,119...159,849,817
Ensembl chr 4:158,150,820...158,163,591

G

TNF receptor superfamily member 1B

severity

protein:increased expression:serum

RGD

NCBI chr 5:162,356,250...162,387,411
Ensembl chr 5:157,070,642...157,104,206

psoriasis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adrenoceptor beta 2

susceptibility

mRNA:decreased expression:epidermis:
DNA:polymorphism:cds:p.R16G(human)

RGD

PMID:8763426 PMID:15265530

RGD:8548488, RGD:8548492

NCBI chr18:57,912,760...57,914,802
Ensembl chr18:55,502,903...55,644,512

G

advanced glycosylation end product-specific receptor

no_association

DNA:SNP: :2184A>G (human)
DNA:polymorphisms: :p.G82S, 1704G>T, 2245A>G (human)

RGD

PMID:12029499 PMID:12029499

RGD:8695975, RGD:8695975

NCBI chr20:4,152,758...4,155,956
Ensembl chr20:4,147,890...4,151,078

G

albumin

RGD

NCBI chr14:17,891,564...17,907,043
Ensembl chr14:17,607,381...17,622,836

G

arachidonate 12-lipoxygenase, 12S type

protein:increased expression:keratinocyte

RGD

NCBI chr10:55,456,923...55,469,239
Ensembl chr10:54,958,271...54,970,542

G

annexin A1

RGD

NCBI chr 1:227,287,713...227,306,739
Ensembl chr 1:217,861,175...217,877,343

G

adaptor related protein complex 1 subunit sigma 3

CTD Direct Evidence: marker/mechanism

NCBI chr 9:88,399,109...88,458,396
Ensembl chr 9:80,950,715...81,009,798

G

apolipoprotein E

susceptibility

DNA:SNP: :3937C>T(human)
CTD Direct Evidence: marker/mechanism
DNA:polymorphism:exon:

CTD
RGD

PMID:16433808 PMID:16433808 PMID:19499236

RGD:7495788, RGD:7771595

NCBI chr 1:88,481,889...88,485,816
Ensembl chr 1:79,353,916...79,357,932

G

amphiregulin

RGD

NCBI chr14:17,256,384...17,265,641
Ensembl chr14:16,972,187...16,981,535

G

actin related protein 2/3 complex, subunit 4

OMIM:177900 | OMIM:601454 | OMIM:603935 | OMIM:604316 | OMIM:605364 | OMIM:605606 | OMIM:607857 | OMIM:610707 | OMIM:612410 | OMIM:612599 | OMIM:612950 | OMIM:614070 | OMIM:616106

NCBI chr 4:148,077,799...148,088,427
Ensembl chr 4:146,522,176...146,532,785

G

B-cell scaffold protein with ankyrin repeats 1

susceptibility

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

RGD

NCBI chr 2:227,203,998...227,474,008
Ensembl chr 2:224,530,475...224,800,405

G

complement C2

DNA:polymorphism: :C2*2 (human)

RGD

NCBI chr20:3,944,722...3,975,006
Ensembl chr20:3,951,474...3,976,505

G

cell adhesion molecule 2

RGD

NCBI chr11:17,994,856...18,971,895
Ensembl chr11:4,555,159...5,525,400

G

caspase recruitment domain family, member 14

ClinVar Annotator: match by term: PSORIASIS 2, PUSTULAR
CTD Direct Evidence: marker/mechanism

PMID:22521418 PMID:22521419 PMID:23143594 PMID:24212883

NCBI chr10:105,064,941...105,100,132
Ensembl chr10:104,566,424...104,601,905

G

coactivator-associated arginine methyltransferase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:28,373,370...28,418,056
Ensembl chr 8:20,097,254...20,147,689

G

calpastatin

RGD

NCBI chr 2:5,707,633...5,817,213
Ensembl chr 2:3,973,112...4,082,659

G

catalase

treatment

protein:increased activity:serum:
CTD Direct Evidence: marker/mechanism
protein:decreased activity:liver:
protein:decreased activity:skin:

CTD
RGD

PMID:12559600 PMID:12602965 PMID:24018880 PMID:12165738

RGD:9479159, RGD:9479744, RGD:9479170

NCBI chr 3:110,297,340...110,329,526
Ensembl chr 3:89,842,399...89,874,478

G

caveolin 1

protein:decreased expression:skin

RGD

NCBI chr 4:46,606,538...46,639,616
Ensembl chr 4:45,634,918...45,673,705

G

C-C motif chemokine ligand 20

treatment

mRNA:increased expression:skin

RGD

PMID:10843722 PMID:16081850 PMID:22895364

RGD:7483581, RGD:7483625, RGD:7483594

NCBI chr 9:91,837,139...91,839,736
Ensembl chr 9:84,388,904...84,391,629

G

C-C motif chemokine receptor 2

protein:increased expression:skin,monocyte:

RGD

NCBI chr 8:132,611,883...132,619,106
Ensembl chr 8:123,734,430...123,742,100

G

C-C motif chemokine receptor 5

protein:decreased expression:T cell

RGD

NCBI chr 8:132,629,097...132,660,980
Ensembl chr 8:123,752,325...123,759,260

G

C-C motif chemokine receptor 6

mRNA:increased expression:skin

RGD

PMID:10843722 PMID:19662682

RGD:7483581, RGD:7483598

NCBI chr 1:55,022,037...55,055,857
Ensembl chr 1:52,474,168...52,498,603

G

CD40 molecule

susceptibility

DNA:SNP:intron: (rs4810485) (human)

RGD

NCBI chr 3:174,209,113...174,224,592
Ensembl chr 3:153,790,449...153,805,534

G

cyclin-dependent kinase inhibitor 1A

mRNA,protein:increased expression:skin:

RGD

NCBI chr20:7,150,820...7,161,373
Ensembl chr20:7,149,217...7,159,585

G

complement factor B

no_association

DNA:polymorphisms

RGD

PMID:6559061 PMID:2609873

RGD:7411727, RGD:7421520

NCBI chr20:3,975,271...3,981,138
Ensembl chr20:3,951,474...3,976,505

G

complement factor H

severity

protein:increased expression:plasma

RGD

NCBI chr13:54,063,079...54,164,523
Ensembl chr13:51,511,828...51,613,838

G

complement factor I

severity

protein:increased expression:plasma

RGD

NCBI chr 2:221,062,206...221,104,790
Ensembl chr 2:218,387,990...218,430,561

G

clusterin

protein:decreased expression:plasma

RGD

NCBI chr15:44,336,619...44,375,861
Ensembl chr15:40,174,617...40,200,315

G

catechol-O-methyltransferase

RGD

NCBI chr11:96,072,371...96,091,956
Ensembl chr11:82,568,025...82,587,642

G

ceruloplasmin

CTD Direct Evidence: marker/mechanism

NCBI chr 2:104,368,336...104,427,119
Ensembl chr 2:102,439,624...102,498,075

G

C-reactive protein

treatment

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

CTD
RGD

PMID:12559600 PMID:22503884 PMID:22754198

RGD:6482313, RGD:9495927

NCBI chr13:87,694,062...87,695,978
Ensembl chr13:85,124,977...85,175,178

G

colony stimulating factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr10:38,887,692...38,889,673
Ensembl chr10:38,386,945...38,389,199

G

CUB and Sushi multiple domains 1

CTD Direct Evidence: marker/mechanism

NCBI chr16:72,218,189...73,818,380
Ensembl chr16:72,218,503...73,817,614

G

cytotoxic T-lymphocyte-associated protein 4

treatment

RGD

NCBI chr 9:69,812,859...69,819,959
Ensembl chr 9:62,319,312...62,324,963

G

C-X3-C motif chemokine receptor 1

DNA:SNP, missense mutation:intron, cds: , p.T280M (human)

RGD

NCBI chr 8:128,661,294...128,679,048
Ensembl chr 8:119,782,595...119,800,014

G

cytochrome P450, family 1, subfamily a, polypeptide 1

susceptibility

DNA:missense mutation, SNP:exon, 3' utr:2455A>G, 3801T>C (human)

RGD

NCBI chr 8:66,991,940...66,998,014
Ensembl chr 8:58,096,077...58,102,125

G

cytochrome P450, family 2, subfamily s, polypeptide 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:90,437,741...90,453,073
Ensembl chr 1:81,310,451...81,325,303

G

dual specificity phosphatase 1

mRNA:decreased expression:skin

RGD

NCBI chr10:17,184,853...17,187,646

G

elastin

treatment

RGD

NCBI chr12:27,604,983...27,648,413
Ensembl chr12:21,968,544...22,011,928

G

endothelial PAS domain protein 1

RGD

NCBI chr 6:13,543,252...13,626,147
Ensembl chr 6:7,790,647...7,871,228

G

endoplasmic reticulum aminopeptidase 1

CTD Direct Evidence: marker/mechanism

PMID:20953187 PMID:20953190 PMID:23291587 PMID:24212883

NCBI chr 2:5,666,337...5,705,256
Ensembl chr 2:3,931,904...3,972,447

G

fatty acid binding protein 5

mRNA:increased expression:skin (human)

RGD

NCBI chr 2:93,672,451...93,676,186
Ensembl chr 2:91,765,056...91,853,773

G

F-box and leucine-rich repeat protein 19

CTD Direct Evidence: marker/mechanism

NCBI chr 1:191,786,981...191,811,314
Ensembl chr 1:182,360,830...182,380,083

G

Fc gamma receptor 2A

mRNA:increased expression:dermal dendritic cell

RGD

NCBI chr13:85,813,516...85,830,269
Ensembl chr13:83,280,784...83,295,967

G

Fms related receptor tyrosine kinase 1

disease_progression

protein:increased expression:serum:

RGD

NCBI chr12:12,333,050...12,504,750
Ensembl chr12:7,297,292...7,468,626

G

glucosylceramidase beta 1

RGD

NCBI chr 2:176,902,141...176,916,015
Ensembl chr 2:174,609,403...174,618,263

G

gap junction protein, beta 2

CTD Direct Evidence: marker/mechanism

PMID:20953187 PMID:24212883

NCBI chr15:35,375,977...35,393,817
Ensembl chr15:31,260,357...31,278,177

G

glutathione S-transferase pi 1

protein:increased expression:epidermis:

RGD

NCBI chr 1:210,767,237...210,770,242
Ensembl chr 1:201,321,672...201,340,226

G

hydroxycarboxylic acid receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr12:38,387,163...38,389,149
Ensembl chr12:32,726,184...32,728,504

G

hypoxia inducible factor 1 subunit alpha

protein:increased expression:serum (human)

RGD

PMID:23517877 PMID:17495954

RGD:8695945, RGD:10395383

NCBI chr 6:98,357,788...98,405,068
Ensembl chr 6:92,624,390...92,669,261

G

intercellular adhesion molecule 1

treatment
severity

protein:increased expression:serum

RGD

PMID:2015706 PMID:8094011 PMID:16181457

RGD:8158118, RGD:8547688, RGD:8547579

NCBI chr 8:27,829,688...27,841,618
Ensembl chr 8:19,553,645...19,565,438

G

interferon induced with helicase C domain 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:67,635,924...67,683,968
Ensembl chr 3:47,227,364...47,275,456

G

interferon, lambda receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:153,203,597...153,225,911
Ensembl chr 5:147,919,908...147,942,332

G

insulin-like growth factor 1

mRNA,protein:increased expression:skin:

RGD

NCBI chr 7:24,169,608...24,249,446
Ensembl chr 7:22,282,930...22,359,296

G

inhibitor of nuclear factor kappa B kinase subunit beta

RGD

NCBI chr16:76,021,968...76,075,717
Ensembl chr16:69,319,554...69,373,250

G

interleukin 10

onset

DNA:SNP:promoter:-1082G>A (human)

RGD

NCBI chr13:45,024,921...45,029,586
Ensembl chr13:42,472,839...42,477,313

G

interleukin 12B

CTD Direct Evidence: marker/mechanism

PMID:19169254 PMID:19169255 PMID:20953190

NCBI chr10:29,390,300...29,405,194
Ensembl chr10:28,893,008...28,902,903

G

interleukin 13

no_association
susceptibility

DNA:SNP, missense mutation:promoter, cds:-1112C>T, p.R130Q (rs1800925, rs20541) (human
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds: (rs20541) (human)

CTD
RGD

PMID:19169254 PMID:20953190 PMID:21349879 PMID:23617596

RGD:8549517, RGD:8549593

NCBI chr10:38,290,926...38,293,483
Ensembl chr10:37,790,130...37,792,737

G

interleukin 13 receptor subunit alpha 1

mRNA:increased expression:skin

RGD

NCBI chr X:120,213,670...120,294,777
Ensembl chr X:115,348,860...115,408,681
Ensembl chr11:115,348,860...115,408,681

G

interleukin 17A

treatment

mRNA:protein:increased expression:epidermis (human)

RGD

PMID:24286371 PMID:20926833 PMID:21172868 PMID:23359500 PMID:23359500

RGD:8698656, RGD:9068415, RGD:9068413, RGD:8698663, RGD:8698663

NCBI chr 9:30,640,844...30,644,331
Ensembl chr 9:23,144,402...23,147,889

G

interleukin 17 receptor A

ClinVar Annotator: match by term: Psoriasis

NCBI chr 4:155,339,742...155,362,382
Ensembl chr 4:153,667,534...153,690,174

G

interleukin 18

treatment

protein:increased expression:plasma

RGD

PMID:22291810 PMID:17611614

RGD:8655900, RGD:8655919

NCBI chr 8:59,802,072...59,829,275
Ensembl chr 8:50,906,960...50,932,887

G

interleukin 1 beta

CTD Direct Evidence: marker/mechanism

NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:116,577,010...116,583,415

G

interleukin 2

disease_progression

RGD

NCBI chr 2:121,932,968...121,937,672
Ensembl chr 2:120,004,862...120,009,566

G

interleukin 20

associated with Respiratory Tract Infections;DNA:SNP:enhancer:-1723C>G (rs1713239) (human)

RGD

NCBI chr13:44,933,249...44,936,893
Ensembl chr13:42,380,981...42,384,625

G

interleukin 23 subunit alpha

CTD Direct Evidence: marker/mechanism

PMID:19169254 PMID:20953190 PMID:21348542

NCBI chr 7:1,306,320...1,308,434
Ensembl chr 7:721,809...723,923

G

interleukin 23 receptor

susceptibility

DNA:SNP:cds:p.R381Q(human)
ClinVar Annotator: match by term: Psoriasis, protection against
CTD Direct Evidence: marker/mechanism
DNA:SNP: :rs11805303(human)
DNA:SNPs: :rs1884444,rs10889677(human);

ClinVar
CTD
RGD

PMID:12023369 PMID:17068223 PMID:17447842 PMID:17587057 PMID:17786191 More...

RGD:8549569, RGD:8549602, RGD:8549574

NCBI chr 4:97,910,230...98,003,759
Ensembl chr 4:96,580,714...96,674,021

G

interleukin 25

protein:increased expression:arm skin

RGD

NCBI chr15:32,378,750...32,382,141
Ensembl chr15:28,408,842...28,411,893

G

interleukin 3

protein: decreased expression

RGD

NCBI chr10:38,906,460...38,908,810
Ensembl chr10:38,405,716...38,408,066

G

interleukin 36 receptor antagonist

CTD Direct Evidence: marker/mechanism

NCBI chr 3:27,442,679...27,449,306
Ensembl chr 3:7,044,406...7,051,016

G

interleukin 4

treatment

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

CTD
RGD

PMID:19169254 PMID:15039646 PMID:19729876

RGD:7829812, RGD:7829826

NCBI chr10:38,272,003...38,277,549
Ensembl chr10:37,771,203...37,776,750

G

interleukin 6

CTD Direct Evidence: marker/mechanism

NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,213,394...5,219,178

G

interleukin-1 receptor-associated kinase 1

RGD

NCBI chr X:156,919,927...156,929,825
Ensembl chr X:151,768,777...151,778,521

G

integrin subunit beta 2

OMIM:177900 | OMIM:601454 | OMIM:602723 | OMIM:603935 | OMIM:604316 | OMIM:605364 | OMIM:605606 | OMIM:607857 | OMIM:610707 | OMIM:612410 | OMIM:612599 | OMIM:612950 | OMIM:614070 | OMIM:616106

NCBI chr20:11,061,009...11,097,242
Ensembl chr20:11,061,430...11,097,600

G

kinase insert domain receptor

treatment

mRNA:increased expression:skin:

RGD

PMID:23732650 PMID:20071151

RGD:8552361, RGD:8552376

NCBI chr14:32,572,031...32,615,204
Ensembl chr14:32,217,871...32,261,018

G

late cornified envelope 3E

CTD Direct Evidence: marker/mechanism

NCBI chr 2:178,578,488...178,579,661
Ensembl chr 2:178,579,162...178,579,458

G

lipin 2

ClinVar Annotator: match by term: Psoriasis

PMID:25741868 PMID:28492532

NCBI chr 9:118,529,988...118,604,796
Ensembl chr 9:111,083,745...111,158,193

G

lymphotoxin alpha

susceptibility

DNA:SNP:intron:IVS1 (human)

RGD

NCBI chr20:3,622,291...3,625,852
Ensembl chr20:3,618,853...3,620,859

G

mannose binding lectin 2

susceptibility

DNA:polymorphism:cds:

RGD

NCBI chr 1:237,429,873...237,465,567

G

marker of proliferation Ki-67

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:10384915 PMID:22499302

NCBI chr 1:199,926,150...199,952,847
Ensembl chr 1:190,496,319...190,522,762

G

nicotinamide phosphoribosyltransferase

protein:increased expression:blood serum (human)

RGD

NCBI chr 6:55,152,756...55,189,547
Ensembl chr 6:49,424,332...49,462,100

G

N-acetyltransferase 2

susceptibility

DNA:polymorphisms: :

RGD

NCBI chr16:26,974,874...27,005,191
Ensembl chr16:22,208,194...22,238,520

G

NFKB inhibitor alpha

CTD Direct Evidence: marker/mechanism

NCBI chr 6:78,593,844...78,597,307
Ensembl chr 6:72,858,712...72,861,941

G

nitric oxide synthase 2

CTD Direct Evidence: marker/mechanism

NCBI chr10:64,313,335...64,349,221
Ensembl chr10:63,815,308...63,851,210

G

proliferating cell nuclear antigen

CTD Direct Evidence: marker/mechanism

NCBI chr 3:139,951,948...139,955,820
Ensembl chr 3:119,498,810...119,502,995

G

peroxisome proliferator-activated receptor gamma

CTD Direct Evidence: therapeutic

NCBI chr 4:150,095,743...150,221,104
Ensembl chr 4:148,423,194...148,548,468

G

proteasome 20S subunit beta 9

RGD

NCBI chr20:4,668,952...4,674,421
Ensembl chr20:4,666,046...4,672,512

G

protein tyrosine phosphatase, non-receptor type 22

no_association
susceptibility
onset

DNA:missense mutation:cds:p.R620W (rs2476601) (human)
DNA:missense mutation:cds:1858C>T (p.R620W) (rs2476601) (human)
DNA:SNP:3' utr: (rs3789604) (human)
DNA:SNPs:intron, 3' utr: (rs1217414, rs3789604) (human)

RGD

PMID:18341666 PMID:20039785 PMID:18923449 PMID:18341666

RGD:7829762, RGD:7829765, RGD:7829764, RGD:7829762

NCBI chr 2:194,055,165...194,103,209
Ensembl chr 2:191,366,808...191,414,779

G

PTTG1 regulator of sister chromatid separation, securin

CTD Direct Evidence: marker/mechanism

NCBI chr10:28,394,940...28,406,410
Ensembl chr10:27,893,689...27,904,837

G

retinol binding protein 4

protein:decreased expression:blood serum (human)

RGD

NCBI chr 1:245,306,349...245,313,551
Ensembl chr 1:235,893,917...235,901,399

G

REL proto-oncogene, NF-kB subunit

CTD Direct Evidence: marker/mechanism

NCBI chr14:101,891,238...101,922,324
Ensembl chr14:97,695,161...97,720,892

G

renin

CTD Direct Evidence: marker/mechanism

NCBI chr13:47,348,312...47,359,539
Ensembl chr13:44,796,091...44,807,489

G

RNA sensor RIG-1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:60,117,398...60,165,995
Ensembl chr 5:55,321,235...55,370,819

G

ring finger protein 114

CTD Direct Evidence: marker/mechanism

NCBI chr 3:156,222,487...156,234,263
Ensembl chr 3:156,222,498...156,234,256

G

RT1 class II, locus Ba

susceptibility

DNA:polymorphisms:cds:HLA-DQA1*0104, HLA-DQA1*0201, HLA-DQA1*0501 (human)

RGD

NCBI chr20:4,577,057...4,581,650
Ensembl chr20:4,575,134...4,579,744

G

RT1 class II, locus Bb

susceptibility

DNA:polymorphisms:cds:HLA-DQB1*0201, HLA-DQB1*0303 (human)

RGD

NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,596,559...4,607,597

G

RUNX family transcription factor 3

CTD Direct Evidence: marker/mechanism

NCBI chr 5:152,644,270...152,702,835
Ensembl chr 5:147,360,994...147,419,156

G

S100 calcium binding protein A7A

NCBI chr 2:178,448,983...178,453,424
Ensembl chr 2:176,151,288...176,156,441

G

serpin family B member 8

CTD Direct Evidence: marker/mechanism

NCBI chr13:23,626,936...23,650,277
Ensembl chr13:23,626,945...23,650,835

G

superoxide dismutase 2

mRNA:increased expression:skin:
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:7744320 PMID:7744320

NCBI chr 1:50,043,323...50,050,168
Ensembl chr 1:47,636,528...47,645,189

G

serine palmitoyltransferase, long chain base subunit 2

OMIM:177900 | OMIM:601454 | OMIM:602723 | OMIM:603935 | OMIM:604316 | OMIM:605364 | OMIM:605606 | OMIM:607857 | OMIM:610707 | OMIM:612410 | OMIM:612599 | OMIM:612950 | OMIM:614070 | OMIM:616106

NCBI chr 6:112,679,623...112,762,470
Ensembl chr 6:106,950,949...107,031,542

G

signal transducer and activator of transcription 3

treatment

CTD Direct Evidence: marker/mechanism

MouseDO
CTD
RGD

PMID:23143594 PMID:23594598 PMID:20811392

RGD:8694295, RGD:8694306

NCBI chr10:86,311,528...86,363,513
Ensembl chr10:85,811,218...85,863,057

G

signal transducer and activator of transcription 4

susceptibility

DNA:SNP:intron:IVS3 (rs7574865) (human)

RGD

NCBI chr 9:56,964,617...57,080,523
Ensembl chr 9:49,419,340...49,588,540

G

T-cell activation RhoGTPase activating protein

CTD Direct Evidence: marker/mechanism

NCBI chr 1:49,575,750...49,584,747
Ensembl chr 1:47,170,725...47,179,792

G

transporter 1, ATP binding cassette subfamily B member

susceptibility

DNA:missense mutation, haplotype:cds:p.I333V (1207A>G) (human)

RGD

NCBI chr20:4,658,171...4,668,543
Ensembl chr20:4,656,263...4,666,901

G

transporter 2, ATP binding cassette subfamily B member

susceptibility

DNA:SNPs:CDs:p.T665A, Q687Q(human)

RGD

NCBI chr20:4,638,257...4,652,296
Ensembl chr20:4,636,357...4,650,407

G

transforming growth factor alpha

CTD Direct Evidence: marker/mechanism

NCBI chr 4:120,175,549...120,258,342
Ensembl chr 4:118,618,269...118,700,894

G

transforming growth factor, beta 1

severity

protein:increased expression:serum

RGD

NCBI chr 1:90,324,312...90,340,627
Ensembl chr 1:81,196,532...81,212,847

G

toll-like receptor 2

mRNA:increased expression:mononuclear cell:

RGD

NCBI chr 2:171,499,189...171,504,831
Ensembl chr 2:169,197,419...169,206,630

G

toll-like receptor 4

mRNA:increased expression:mononuclear cell:

RGD

NCBI chr 5:85,161,247...85,174,882
Ensembl chr 5:80,145,826...80,159,628

G

tumor necrosis factor

susceptibility

DNA:SNP: :-238G>A(rs361525)(human)
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:7744320 PMID:16844318 PMID:9326391 PMID:16821276

RGD:7394813, RGD:7401180

NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629

G

TNF alpha induced protein 3

CTD Direct Evidence: marker/mechanism

PMID:19169254 PMID:20953190

NCBI chr 1:15,528,921...15,543,993
Ensembl chr 1:13,709,206...13,725,282

G

TNF receptor superfamily member 1A

treatment

RGD

NCBI chr 4:159,837,119...159,849,817
Ensembl chr 4:158,150,820...158,163,591

G

TNFAIP3 interacting protein 1

CTD Direct Evidence: marker/mechanism

PMID:19169254 PMID:20953190

NCBI chr10:39,537,759...39,585,038
Ensembl chr10:39,037,058...39,077,625

G

tumor protein p53

CTD Direct Evidence: marker/mechanism

NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524

G

Traf3 interacting protein 2

CTD Direct Evidence: marker/mechanism

PMID:20953186 PMID:20953188 PMID:20953190

NCBI chr20:44,565,992...44,609,240
Ensembl chr20:43,011,450...43,054,667

G

tetratricopeptide repeat domain 7A

OMIM:177900 | OMIM:601454 | OMIM:602723 | OMIM:603935 | OMIM:604316 | OMIM:605364 | OMIM:605606 | OMIM:607857 | OMIM:610707 | OMIM:612410 | OMIM:612599 | OMIM:612950 | OMIM:614070 | OMIM:616106

NCBI chr 6:7,159,285...7,261,826
Ensembl chr 6:7,159,061...7,261,892

G

tyrosine kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 8:27,918,054...27,943,319
Ensembl chr 8:19,641,884...19,667,044

G

vitamin D receptor

treatment
no_association
susceptibility

DNA:silent mutation:cds:pI352 (rs731236) (human)
DNA:SNPs, haplotype:promoter, exon:-1012A>G, (rs731236, rs2228570) (human)
DNA:SNPs:intron, cds: (rs731236, rs1544410, rs7975232) (human)
DNA:SNPs, haplotype:intron, cds, enhancer:multiple
DNA:SNPs:exon:multiple
DNA:SNP:promoter:-1012A>G (rs4516035) (human)
DNA:silent mutation:cds: (rs731236) (human)

GAD
RGD

PMID:15118671 PMID:20716226 PMID:15864137 PMID:21951018 PMID:24055231 More...

RGD:1331525, RGD:8158081, RGD:8158072, RGD:8158062, RGD:8158056, RGD:8157635, RGD:8157635, RGD:8157633

NCBI chr 7:130,864,764...130,916,757
Ensembl chr 7:128,987,981...129,037,677

G

vascular endothelial growth factor A

onset
disease_progression
treatment

mRNA:increased expression:skin:
CTD Direct Evidence: marker/mechanism
DNA:polymorphism: :405C>G(human)
protein:increased expression:serum:

MouseDO
CTD
RGD

PMID:16385345 PMID:8064230 PMID:14962110 PMID:20980160 PMID:19995970

RGD:7421592, RGD:8552645, RGD:8552359, RGD:8549646

NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:14,955,300...14,970,641

G

vanin 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:23,356,324...23,366,629
Ensembl chr 1:21,537,094...21,547,395

G

vanin 3

CTD Direct Evidence: marker/mechanism

NCBI chr 1:21,571,364...21,583,626
Ensembl chr 1:21,571,364...21,583,626

G

zinc finger CCCH type containing 12C

CTD Direct Evidence: marker/mechanism

NCBI chr 8:52,443,791...52,508,643
Ensembl chr 8:52,448,320...52,504,315

G

zinc finger protein 141

CTD Direct Evidence: marker/mechanism

PMID:20953187 PMID:24212883

NCBI chr 1:93,130,574...93,164,293
Ensembl chr 1:93,130,598...93,163,404

psoriasis 13

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Traf3 interacting protein 2

susceptibility

ClinVar Annotator: match by term: Psoriasis 13, susceptibility to

PMID:20953186 PMID:20953188 PMID:22581863 PMID:24033266 PMID:24120361 More...

NCBI chr20:44,565,992...44,609,240
Ensembl chr20:43,011,450...43,054,667

psoriasis 15

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adaptor related protein complex 1 subunit sigma 3

susceptibility

ClinVar Annotator: match by term: AP1S3-related condition | ClinVar Annotator: match by term: Psoriasis 15, pustular, susceptibility to

PMID:24033266 PMID:24791904 PMID:25741868 PMID:28887889

NCBI chr 9:88,399,109...88,458,396
Ensembl chr 9:80,950,715...81,009,798

psoriasis 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

caspase recruitment domain family, member 14

ClinVar Annotator: match by term: PSORIASIS 2 | ClinVar Annotator: match by term: Psoriasis 2
OMIM:602723

OMIM
ClinVar
MouseDO

PMID:8178173 PMID:9536098 PMID:15689454 PMID:17576681 PMID:18256691 More...

NCBI chr10:105,064,941...105,100,132
Ensembl chr10:104,566,424...104,601,905

G

N-sulfoglucosamine sulfohydrolase

ClinVar Annotator: match by term: PSORIASIS 2 | ClinVar Annotator: match by term: Psoriasis 2

PMID:22521419 PMID:24033266 PMID:25741868 PMID:26203641 PMID:26255310 More...

NCBI chr10:104,596,810...104,613,510
Ensembl chr10:104,598,112...104,613,486

psoriasis 7

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

interleukin 23 receptor

ClinVar Annotator: match by term: IL23R-related condition

PMID:25741868 PMID:28492532

NCBI chr 4:97,910,230...98,003,759
Ensembl chr 4:96,580,714...96,674,021

psoriatic arthritis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

bone morphogenetic protein 4

CTD Direct Evidence: marker/mechanism

NCBI chr15:22,098,191...22,113,145
Ensembl chr15:19,618,542...19,623,306

G

C-C motif chemokine ligand 4

protein:increased expression:serum

RGD

NCBI chr10:68,963,893...68,965,728
Ensembl chr10:68,452,052...68,468,231

G

C-C motif chemokine receptor 2

susceptibility

associated with Psoriasis;DNA:SNP:p.V64I(rs1799864)(human)

RGD

NCBI chr 8:132,611,883...132,619,106
Ensembl chr 8:123,734,430...123,742,100

G

Cd68 molecule

CTD Direct Evidence: marker/mechanism

NCBI chr10:54,880,562...54,882,441
Ensembl chr10:54,381,815...54,383,697

G

cytochrome P450, family 1, subfamily a, polypeptide 1

susceptibility

DNA:polymorphisms: :4887C>A, 4889A>G (human)

RGD

NCBI chr 8:66,991,940...66,998,014
Ensembl chr 8:58,096,077...58,102,125

G

F-box and leucine-rich repeat protein 19

CTD Direct Evidence: marker/mechanism

NCBI chr 1:191,786,981...191,811,314
Ensembl chr 1:182,360,830...182,380,083

G

interleukin 12B

CTD Direct Evidence: marker/mechanism

NCBI chr10:29,390,300...29,405,194
Ensembl chr10:28,893,008...28,902,903

G

interleukin 13

susceptibility

DNA:SNP, missense mutation:promoter, cds:-1112C>T, p.R130Q (rs1800925, rs20541) (human
DNA:SNPs:promoter, exon:rs1800925, rs20541, rs848 (human)

RGD

PMID:21349879 PMID:19554022

RGD:8549517, RGD:8549552

NCBI chr10:38,290,926...38,293,483
Ensembl chr10:37,790,130...37,792,737

G

interleukin 17A

severity
treatment

RGD

PMID:24567524 PMID:23361084

RGD:8698658, RGD:9068444

NCBI chr 9:30,640,844...30,644,331
Ensembl chr 9:23,144,402...23,147,889

G

interleukin-1 receptor-associated kinase 1

susceptibility

DNA:SNP:enhancer: (rs3027898) (human)

RGD

NCBI chr X:156,919,927...156,929,825
Ensembl chr X:151,768,777...151,778,521

G

lymphotoxin alpha

treatment
susceptibility

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Psoriatic arthritis, susceptibility to

OMIM
CTD
ClinVar
RGD

PMID:12426569 PMID:12746914 PMID:14681301 PMID:22480318

NCBI chr20:3,622,291...3,625,852
Ensembl chr20:3,618,853...3,620,859

G

MEFV innate immunity regulator, pyrin

CTD Direct Evidence: marker/mechanism

NCBI chr10:12,288,514...12,303,337
Ensembl chr10:11,787,422...11,796,973

G

matrix metallopeptidase 1

protein:increased expression:plasma (human)

RGD

NCBI chr 8:12,943,453...12,963,966
Ensembl chr 8:4,658,588...4,679,097

G

matrix metallopeptidase 3

RGD

NCBI chr 8:12,925,267...12,938,828
Ensembl chr 8:4,640,416...4,653,961

G

nucleotide-binding oligomerization domain containing 2

ClinVar Annotator: match by term: Psoriatic arthritis, susceptibility to

PMID:11385576 PMID:25741868 PMID:28492532

NCBI chr19:34,555,832...34,596,281
Ensembl chr19:18,382,439...18,417,177

G

nitric oxide synthase 2

CTD Direct Evidence: marker/mechanism

NCBI chr10:64,313,335...64,349,221
Ensembl chr10:63,815,308...63,851,210

G

nuclear receptor subfamily 4, group A, member 2

CTD Direct Evidence: marker/mechanism

NCBI chr 3:62,098,739...62,115,926
Ensembl chr 3:41,689,851...41,697,877

G

platelet and endothelial cell adhesion molecule 1

RGD

NCBI chr10:92,090,263...92,152,002
Ensembl chr10:91,590,521...91,652,116

G

protein tyrosine phosphatase, non-receptor type 22

no_association

DNA: snp: cds: rs2476601
DNA:missense mutation: :R620W (rs2476601) (human)

RGD

PMID:21410964 PMID:15934099

RGD:6484592, RGD:6484550

NCBI chr 2:194,055,165...194,103,209
Ensembl chr 2:191,366,808...191,414,779

G

RUNX family transcription factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 9:23,661,278...23,990,248
Ensembl chr 9:16,167,482...16,492,167

G

signal transducer and activator of transcription 3

no_association

DNA:SNP: :rs744166 (human)
DNA:SNP: :rs2293152 (human)

RGD

PMID:23127549 PMID:23127549

RGD:8694309, RGD:8694309

NCBI chr10:86,311,528...86,363,513
Ensembl chr10:85,811,218...85,863,057

G

signal transducer and activator of transcription 4

DNA:SNP: :rs10181656 (human)

RGD

NCBI chr 9:56,964,617...57,080,523
Ensembl chr 9:49,419,340...49,588,540

G

tumor necrosis factor

susceptibility

DNA:SNP: :-238G>A(rs361525)(human)
ClinVar Annotator: match by term: Psoriatic arthritis, susceptibility to
CTD Direct Evidence: marker/mechanism

ClinVar
CTD
RGD

PMID:8056188 PMID:9818939 PMID:10450718 PMID:11261930 PMID:11506397 More...

NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629

G

Traf3 interacting protein 2

CTD Direct Evidence: marker/mechanism

PMID:20953186 PMID:20953188

NCBI chr20:44,565,992...44,609,240
Ensembl chr20:43,011,450...43,054,667

pustular psoriasis 14

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

interleukin 1 family member 10

ClinVar Annotator: match by term: Generalized pustular psoriasis

PMID:19494218 PMID:21792839 PMID:21848462 PMID:22940634 PMID:23698098 More...

NCBI chr 3:27,470,798...27,473,726
Ensembl chr 3:7,072,511...7,075,439

G

interleukin 1 receptor antagonist

ClinVar Annotator: match by term: Generalized pustular psoriasis

PMID:19494218 PMID:21792839 PMID:22940634 PMID:23698098 PMID:26100510 More...

NCBI chr 3:27,509,836...27,525,738
Ensembl chr 3:7,111,550...7,127,445

G

interleukin 36 receptor antagonist

ClinVar Annotator: match by term: ACRODERMATITIS CONTINUA OF HALLOPEAU | ClinVar Annotator: match by term: Generalized pustular psoriasis | ClinVar Annotator: match by term: IL36RN-related condition | ClinVar Annotator: match by term: Psoriasis 14, pustular

PMID:6147717 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19494218 More...

NCBI chr 3:27,442,679...27,449,306
Ensembl chr 3:7,044,406...7,051,016

pustulosis of palm and sole

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

lymphotoxin alpha

DNA:SNP:intron:IVS1 (human)

RGD

NCBI chr20:3,622,291...3,625,852
Ensembl chr20:3,618,853...3,620,859

G

tumor necrosis factor

no_association

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

RGD

PMID:11019918 PMID:12691703

RGD:8548803, RGD:8548804

NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629

reactive arthritis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cytochrome P450, family 1, subfamily a, polypeptide 1

DNA:polymorphism: :4887C>A (human)

RGD

NCBI chr 8:66,991,940...66,998,014
Ensembl chr 8:58,096,077...58,102,125

G

RT1 class I, locus CE13

DNA:polymorphisms:cds:HLA-B27 (human)

RGD

NCBI chr20:3,314,491...3,322,815

G

superoxide dismutase 2

RGD

NCBI chr 1:50,043,323...50,050,168
Ensembl chr 1:47,636,528...47,645,189

G

transporter 1, ATP binding cassette subfamily B member

RGD

NCBI chr20:4,658,171...4,668,543
Ensembl chr20:4,656,263...4,666,901

G

transporter 2, ATP binding cassette subfamily B member

RGD

NCBI chr20:4,638,257...4,652,296
Ensembl chr20:4,636,357...4,650,407

relapsing polychondritis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

interferon gamma

protein:increased expression:ear

RGD

NCBI chr 7:55,789,180...55,793,216
Ensembl chr 7:53,903,337...53,907,375

G

tumor necrosis factor

protein:increased expression:ear

RGD

NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629

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:23824842 PMID:24033266 PMID:25348816 More...

NCBI chr13:96,071,058...96,095,709
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 chr14:18,916,255...18,951,670
Ensembl chr14:18,632,135...18,667,567

G

intercellular adhesion molecule 1

protein:increased expression:serum

RGD

NCBI chr 8:27,829,688...27,841,618
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 chr20:4,577,057...4,581,650
Ensembl chr20:4,575,134...4,579,744

G

RT1 class II, locus Bb

DNA:polymorphisms, haplotypes:multiple

RGD

NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,596,559...4,607,597

G

RT1 class II, locus Db1

DNA:polymorphisms, haplotypes:multiple

RGD

NCBI chr20:4,550,594...4,560,182
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 1:241,159,723...241,172,503
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 1:105,076,472...105,081,906
Ensembl chr 1:95,938,808...95,945,368

G

CD209d molecule

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

RGD

NCBI chr12:6,689,002...6,695,452
Ensembl chr12:1,891,113...1,901,171

G

CD36 molecule

mRNA:decreased expression:blood, mononuclear cell

RGD

NCBI chr 4:18,209,088...18,302,142
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 chr10:80,380,458...80,397,461
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 9:54,866,646...54,902,578
Ensembl chr 9:47,374,593...47,410,547

G

glyceraldehyde-3-phosphate dehydrogenase

RGD

NCBI chr 4:159,648,592...159,653,436
Ensembl chr 4:157,962,343...157,966,235

G

insulin-like growth factor 1

RGD

NCBI chr 7:24,169,608...24,249,446
Ensembl chr 7:22,282,930...22,359,296

G

interleukin 10

no_association

RGD

NCBI chr13:45,024,921...45,029,586
Ensembl chr13:42,472,839...42,477,313

G

inhibin subunit beta A

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

RGD

NCBI chr17:53,787,159...53,810,942
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 2:222,340,541...222,453,931
Ensembl chr 2:219,666,592...219,779,794

G

microRNA 155

RGD

NCBI chr11:37,261,114...37,261,178
Ensembl chr11:23,774,654...23,774,718

G

matrix metallopeptidase 9

RGD

NCBI chr 3:174,103,474...174,111,434
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 chr20:4,577,057...4,581,650
Ensembl chr20:4,575,134...4,579,744

G

RT1 class II, locus Bb

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

RGD

NCBI chr20:4,598,475...4,604,118
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 chr20:4,550,594...4,560,182
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 3:176,667,476...176,671,965
Ensembl chr 3:156,248,485...156,252,969

G

suppressor of cytokine signaling 1

treatment

RGD

NCBI chr10:5,389,574...5,391,265
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 6:56,402,309...56,404,303
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 chr17:56,644,397...56,811,155
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 3:49,624,028...49,754,323
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 3:38,982,605...39,035,849
Ensembl chr 3:18,585,172...18,638,402

G

intercellular adhesion molecule 1

severity

protein:increased expression:serum

RGD

NCBI chr 8:27,829,688...27,841,618
Ensembl chr 8:19,553,645...19,565,438

G

selectin E

severity

protein:increased expression:serum

RGD

NCBI chr13:78,935,997...78,945,905
Ensembl chr13:76,403,304...76,412,741

G

vascular cell adhesion molecule 1

severity

protein:increased expression:serum

RGD

NCBI chr 2:206,723,050...206,742,783
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 4:156,570,163...156,619,870
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 4:26,312,403...26,488,456
Ensembl chr 4:25,158,362...25,442,709

G

ATP binding cassette subfamily C member 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:252,613,875...252,672,459
Ensembl chr 1:242,664,657...242,723,238

G

ATP binding cassette subfamily C member 3

CTD Direct Evidence: marker/mechanism

NCBI chr10:79,793,571...79,839,528
Ensembl chr10:79,296,693...79,342,595

G

ATP binding cassette subfamily C member 4

CTD Direct Evidence: marker/mechanism

NCBI chr15:101,948,387...102,182,912
Ensembl chr15:95,542,315...95,774,283

G

ATP binding cassette subfamily C member 5

CTD Direct Evidence: marker/mechanism

NCBI chr11:93,975,579...94,071,659
Ensembl chr11:80,473,872...80,567,253

G

ATP binding cassette subfamily G member 2

CTD Direct Evidence: marker/mechanism

NCBI chr 4:89,006,056...89,132,915
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 1:142,390,951...142,453,779
Ensembl chr 1:132,981,582...133,043,627

G

atypical chemokine receptor 3

CTD Direct Evidence: marker/mechanism

NCBI chr 9:98,247,300...98,258,877
Ensembl chr 9:90,799,686...90,811,237

G

ADAM metallopeptidase with thrombospondin type 1 motif, 4

mRNA:increased expression:synovium

RGD

NCBI chr13:86,203,011...86,212,500
Ensembl chr13:83,670,183...83,680,065

G

ADAM metallopeptidase with thrombospondin type 1 motif, 5

protein:alternative form:synovium

RGD

NCBI chr11:38,486,945...38,533,516
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 chr11:91,226,524...91,240,244
Ensembl chr11:77,721,912...77,735,564

G

adenosine A2a receptor

CTD Direct Evidence: marker/mechanism

NCBI chr20:13,315,270...13,332,802
Ensembl chr20:13,315,853...13,333,386

G

adrenoceptor beta 3

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

RGD

NCBI chr16:71,544,603...71,547,410
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 9:47,894,903...48,352,380
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 chr20:4,152,758...4,155,956
Ensembl chr20:4,147,890...4,151,078

G

aryl hydrocarbon receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 6:57,961,423...57,998,901
Ensembl chr 6:52,234,089...52,271,568

G

arachidonate 5-lipoxygenase

CTD Direct Evidence: marker/mechanism

NCBI chr 4:151,203,948...151,251,126
Ensembl chr 4:149,531,515...149,578,743

G

angiogenin

RGD

NCBI chr15:26,786,233...26,796,883

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 chr14:13,031,675...13,085,678
Ensembl chr14:12,719,795...12,781,617

G

apolipoprotein A4

protein:increased expression:blood serum (human)

RGD

NCBI chr 8:55,435,779...55,438,160
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 chr20:20,305,693...20,489,689
Ensembl chr20:20,307,731...20,487,433

G

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

CTD Direct Evidence: marker/mechanism

NCBI chr 9:80,614,311...80,634,360
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 chr14:101,009,682...101,034,507
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 8:98,596,806...98,604,890
Ensembl chr 8:89,716,914...89,724,998

G

bradykinin receptor B2

CTD Direct Evidence: marker/mechanism

NCBI chr 6:130,237,055...130,267,205
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 2:176,136,341...176,137,318
Ensembl chr 2:173,838,518...173,839,495

G

biglycan

CTD Direct Evidence: marker/mechanism

NCBI chr X:156,348,633...156,360,797
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 chr15:41,802,701...41,841,004
Ensembl chr15:37,627,039...37,665,031

G

bone morphogenetic protein 4

CTD Direct Evidence: marker/mechanism

NCBI chr15:22,098,191...22,113,145
Ensembl chr15:19,618,542...19,623,306

G

bone morphogenetic protein 6

CTD Direct Evidence: marker/mechanism

NCBI chr17:26,523,704...26,785,558
Ensembl chr17:26,318,569...26,470,365

G

butyrophilin-like 2

susceptibility

DNA:SNPs: :

RGD

NCBI chr20:4,492,100...4,505,932
Ensembl chr20:4,489,517...4,503,341

G

complement C3

RGD

NCBI chr 9:2,174,412...2,201,339
Ensembl chr 9:2,087,437...2,114,429

G

complement C4B

RGD

NCBI chr20:4,201,979...4,216,292
Ensembl chr20:4,197,366...4,211,681

G

caldesmon 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:64,232,906...64,414,085
Ensembl chr 4:63,265,942...63,446,932

G

carbonic anhydrase 1

RGD

NCBI chr 2:88,550,681...88,593,454
Ensembl chr 2:86,861,897...86,872,208

G

carbonic anhydrase 2

RGD

NCBI chr 2:88,462,883...88,478,012
Ensembl chr 2:86,741,626...86,756,818

G

caspase 7

RGD

NCBI chr 1:265,442,647...265,481,938
Ensembl chr 1:255,437,172...255,476,729

G

calpastatin

RGD

NCBI chr 2:5,707,633...5,817,213
Ensembl chr 2:3,973,112...4,082,659

G

catalase

CTD Direct Evidence: marker/mechanism

NCBI chr 3:110,297,340...110,329,526
Ensembl chr 3:89,842,399...89,874,478

G

caveolin 2

CTD Direct Evidence: marker/mechanism

NCBI chr 4:46,582,681...46,590,058
Ensembl chr 4:45,616,712...45,624,244

G

C-C motif chemokine ligand 2

protein:increased expression:serum

RGD

NCBI chr10:67,503,077...67,504,875
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 5:61,776,411...61,777,515
Ensembl chr 5:56,980,558...56,981,686

G

C-C motif chemokine ligand 22

protein:increased expression:plasma:

RGD

NCBI chr19:10,263,589...10,270,359
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 2:237,222,730...237,225,689
Ensembl chr 2:234,562,408...234,565,484

G

cellular communication network factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:22,621,498...22,624,614
Ensembl chr 1:20,802,199...20,805,734

G

C-C motif chemokine receptor 1

RGD

NCBI chr 8:132,433,711...132,439,266

G

C-C motif chemokine receptor 3

protein:increased expression:synovial fluid, neutrophil

RGD

NCBI chr 8:132,463,533...132,511,601
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 8:123,054,505...123,060,244
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 8:132,629,097...132,660,980
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 1:55,022,037...55,055,857
Ensembl chr 1:52,474,168...52,498,603

G

Cd2 molecule

CTD Direct Evidence: marker/mechanism

NCBI chr 2:191,399,510...191,412,659
Ensembl chr 2:188,710,900...188,724,026

G

CD244 molecule

susceptibility

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CD244-related condition | ClinVar Annotator: match by term: Rheumatoid arthritis

CTD
ClinVar
OMIM

PMID:18794858 PMID:25741868 PMID:28492532

NCBI chr13:86,583,727...86,606,902
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 9:69,660,316...69,689,192
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 8:54,200,617...54,211,770
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 3:174,209,113...174,224,592
Ensembl chr 3:153,790,449...153,805,534

G

Cd5 molecule

CTD Direct Evidence: marker/mechanism

NCBI chr 1:216,790,245...216,811,209
Ensembl chr 1:207,365,337...207,386,313

G

Cd80 molecule

protein:increased expression:serum

RGD

NCBI chr11:75,760,073...75,798,978
Ensembl chr11:62,254,624...62,292,030

G

CD83 molecule

CTD Direct Evidence: marker/mechanism

NCBI chr17:21,093,281...21,113,223
Ensembl chr17:20,887,309...20,907,083

G

cyclin-dependent kinase 6

CTD Direct Evidence: marker/mechanism

NCBI chr 4:31,592,384...31,784,732
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 3:176,817,005...176,818,436
Ensembl chr 3:156,397,052...156,399,473

G

chitinase 3 like 1

severity

protein:increased secretion:serum (human)

RGD

NCBI chr13:48,193,839...48,201,822
Ensembl chr13:45,641,802...45,649,787

G

cholinergic receptor nicotinic alpha 7 subunit

mRNA,protein:increased expression:joint, spleen:

RGD

NCBI chr 1:126,123,425...126,249,181
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 9:95,325,984...95,332,092
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)
ClinVar Annotator: match by term: RHEUMATOID ARTHRITIS, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Rheumatoid arthritis
CTD Direct Evidence: marker/mechanism
DNA:polymorphism:promoter:-168A>G (human)
DNA:polymorphism:promoter:rs3087456, no association in a German cohort (Human)

OMIM
ClinVar
CTD
RGD

PMID:8402893 PMID:9099848 PMID:15821736 PMID:16199547 PMID:16849401 More...

RGD:5491176, RGD:1358146, RGD:5491189

NCBI chr10:5,646,854...5,694,393
Ensembl chr10:5,140,178...5,187,440

G

C-type lectin domain family 12, member A

CTD Direct Evidence: marker/mechanism

NCBI chr 4:164,484,162...164,502,793
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 7:130,977,561...131,006,627
Ensembl chr 7:129,098,786...129,127,546

G

ceruloplasmin

CTD Direct Evidence: marker/mechanism

NCBI chr 2:104,368,336...104,427,119
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 chr13:87,694,062...87,695,978
Ensembl chr13:85,124,977...85,175,178

G

colony stimulating factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr10:38,887,692...38,889,673
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 9:69,812,859...69,819,959
Ensembl chr 9:62,319,312...62,324,963

G

cathepsin D

CTD Direct Evidence: marker/mechanism

NCBI chr 1:206,956,945...206,968,821
Ensembl chr 1:197,527,467...197,539,488

G

C-X3-C motif chemokine ligand 1

RGD

NCBI chr19:10,233,326...10,244,856
Ensembl chr19:10,227,340...10,236,833

G

C-X-C motif chemokine ligand 2

CTD Direct Evidence: marker/mechanism

NCBI chr14:17,465,210...17,467,255
Ensembl chr14:17,181,062...17,183,075

G

C-X-C motif chemokine ligand 6

CTD Direct Evidence: marker/mechanism

NCBI chr14:17,594,959...17,596,417
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:70,884,293...70,886,944
Ensembl chr X:66,844,318...66,846,969

G

C-X-C motif chemokine receptor 4

CTD Direct Evidence: marker/mechanism

NCBI chr13:42,630,383...42,634,288
Ensembl chr13:40,077,976...40,081,883

G

cytochrome b-245 beta chain

CTD Direct Evidence: marker/mechanism

NCBI chr X:16,030,596...16,065,065
Ensembl chr X:13,359,430...13,392,586

G

DNA-damage-inducible transcript 4

CTD Direct Evidence: marker/mechanism

NCBI chr20:28,434,938...28,437,037
Ensembl chr20:27,891,998...27,894,105

G

DEAD-box helicase 6

CTD Direct Evidence: marker/mechanism

NCBI chr 8:53,827,661...53,864,538
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 2:25,320,895...25,346,004
Ensembl chr 2:23,586,031...23,613,713

G

deoxyribonuclease 1L3

CTD Direct Evidence: marker/mechanism

PMID:23143596 PMID:30224649

NCBI chr15:19,351,683...19,378,536
Ensembl chr15:16,922,335...16,948,317

G

deoxyribonuclease 2, lysosomal

OMIM:180300

NCBI chr19:40,149,505...40,152,225
Ensembl chr19:23,244,664...23,247,376

G

DNA methyltransferase 1

severity

mRNA:increased expression:mononuclear cell

RGD

NCBI chr 8:27,716,797...27,763,405
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 3:162,590,777...162,629,313
Ensembl chr 3:142,130,592...142,169,124

G

endothelin 1

treatment

RGD

NCBI chr17:22,660,799...22,666,687
Ensembl chr17:22,454,420...22,460,885

G

elastin

RGD

NCBI chr12:27,604,983...27,648,413
Ensembl chr12:21,968,544...22,011,928

G

enolase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:166,002,867...166,014,252
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 6:13,543,252...13,626,147
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 chr15:44,210,124...44,230,785
Ensembl chr15:40,034,568...40,055,306
Ensembl chr15:40,034,568...40,055,306

G

estrogen receptor 2

severity

DNA:SNP:exon:rs1256049(human)

RGD

NCBI chr 6:100,589,553...100,645,240
Ensembl chr 6:94,809,547...94,908,919

G

coagulation factor II, thrombin

CTD Direct Evidence: marker/mechanism

NCBI chr 3:98,051,958...98,065,246
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 1:241,212,155...241,245,774
Ensembl chr 1:231,798,960...231,832,591

G

Fas ligand

CTD Direct Evidence: marker/mechanism

NCBI chr13:76,680,885...76,706,042
Ensembl chr13:74,154,954...74,162,215

G

Fc gamma receptor 1A

protein:increased expression:synovial joint:

RGD

NCBI chr 2:186,539,941...186,548,941
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 chr13:85,813,516...85,830,269
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 chr13:85,782,636...85,792,656
Ensembl chr13:83,249,872...83,259,921

G

FKBP prolyl isomerase 5

CTD Direct Evidence: marker/mechanism

NCBI chr20:6,458,931...6,577,227
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 chr20:47,251,968...47,348,254
Ensembl chr20:45,672,995...45,764,561

G

forkhead box P3

CTD Direct Evidence: marker/mechanism

NCBI chr X:17,580,380...17,601,181
Ensembl chr X:14,908,494...14,923,838

G

folylpolyglutamate synthase

CTD Direct Evidence: marker/mechanism

NCBI chr 3:36,370,505...36,391,314
Ensembl chr 3:15,972,800...15,993,563

G

phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase

CTD Direct Evidence: marker/mechanism

NCBI chr11:44,351,841...44,377,086
Ensembl chr11:30,865,889...30,891,125

G

GATA binding protein 3

CTD Direct Evidence: marker/mechanism

NCBI chr17:73,544,234...73,575,670
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 chr14:18,916,255...18,951,670
Ensembl chr14:18,632,135...18,667,567

G

growth differentiation factor 5

CTD Direct Evidence: marker/mechanism

NCBI chr 3:164,914,401...164,918,593
Ensembl chr 3:144,454,338...144,458,612

G

gamma-glutamyl hydrolase

CTD Direct Evidence: marker/mechanism

NCBI chr 5:38,326,747...38,349,655
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 4:169,634,896...169,653,627
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 1:211,010,259...211,031,013
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 1:270,014,314...270,208,294
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 chr17:9,182,160...9,198,380
Ensembl chr17:9,177,019...9,192,644

G

gasdermin E

CTD Direct Evidence: marker/mechanism

NCBI chr 4:80,590,344...80,651,943
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 2:198,338,005...198,346,007
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 chr20:12,856,068...12,873,020
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 chr11:77,322,873...77,346,333
Ensembl chr11:63,817,476...63,841,014

G

histone deacetylase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:147,138,328...147,165,387
Ensembl chr 5:141,853,989...141,881,111

G

homeostatic iron regulator

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

RGD

NCBI chr17:41,841,302...41,849,359
Ensembl chr17:41,413,451...41,421,502

G

hepatocyte growth factor

disease_progression

protein:increased expression:serum:

RGD

NCBI chr 4:19,628,902...19,700,467
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 6:98,357,788...98,405,068
Ensembl chr 6:92,624,390...92,669,261

G

heterogeneous nuclear ribonucleoprotein A2/B1

severity

RGD

NCBI chr 4:81,867,354...81,875,886
Ensembl chr 4:80,534,651...80,545,249

G

homeo box D10

CTD Direct Evidence: marker/mechanism

NCBI chr 3:80,001,947...80,005,156
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 3:79,978,077...79,981,393
Ensembl chr 3:59,570,646...59,573,963

G

hydroxysteroid 11-beta dehydrogenase 1

CTD Direct Evidence: marker/mechanism

NCBI chr13:107,277,526...107,327,462
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 6:135,523,604...135,529,687
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 chr10:37,908,866...37,951,994
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 3:38,453,016...38,457,475
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 chr18:26,810,004...26,832,958
Ensembl chr18:26,535,798...26,554,292

G

heat shock protein family B (small) member 1

protein:increased expression:serum:

RGD

NCBI chr12:26,430,640...26,432,301
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 9:64,073,610...64,084,332
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 7:55,789,180...55,793,216
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 1:207,243,873...207,261,263
Ensembl chr 1:197,814,410...197,823,018

G

insulin-like growth factor binding protein 3

CTD Direct Evidence: marker/mechanism

NCBI chr14:86,270,208...86,277,944
Ensembl chr14:82,056,347...82,064,083

G

IKAROS family zinc finger 3

CTD Direct Evidence: marker/mechanism

NCBI chr10:83,956,850...84,049,861
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 chr13:45,024,921...45,029,586
Ensembl chr13:42,472,839...42,477,313

G

interleukin 13

protein:increased expression:serum

RGD

NCBI chr10:38,290,926...38,293,483
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 9:30,640,844...30,644,331
Ensembl chr 9:23,144,402...23,147,889

G

interleukin 18

CTD Direct Evidence: marker/mechanism

NCBI chr 8:59,802,072...59,829,275
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 chr13:44,949,989...44,958,714
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 3:136,979,804...136,990,236
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 3:137,030,200...137,036,581
Ensembl chr 3:116,577,010...116,583,415

G

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 3:27,509,836...27,525,738
Ensembl chr 3:7,111,550...7,127,445

G

interleukin 2

RGD

NCBI chr 2:121,932,968...121,937,672
Ensembl chr 2:120,004,862...120,009,566

G

interleukin 20

RGD

NCBI chr13:44,933,249...44,936,893
Ensembl chr13:42,380,981...42,384,625

G

interleukin 21 receptor

RGD

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

G

interleukin 23 subunit alpha

CTD Direct Evidence: marker/mechanism

NCBI chr 7:1,306,320...1,308,434
Ensembl chr 7:721,809...723,923

G

interleukin 23 receptor

susceptibility

DNA:SNP::rs1343151(human)

RGD

NCBI chr 4:97,910,230...98,003,759
Ensembl chr 4:96,580,714...96,674,021

G

interleukin 2 receptor subunit alpha

CTD Direct Evidence: marker/mechanism

PMID:20453842 PMID:20476861 PMID:23143596

NCBI chr17:71,759,802...71,808,475
Ensembl chr17:66,849,974...66,898,697

G

interleukin 2 receptor subunit beta

CTD Direct Evidence: marker/mechanism

PMID:20453842 PMID:23143596

NCBI chr 7:111,913,828...111,928,537
Ensembl chr 7:110,033,341...110,048,054

G

interleukin 3

DNA: SNPs: Multiple: gene-gene interaction

RGD

NCBI chr10:38,906,460...38,908,810
Ensembl chr10:38,405,716...38,408,066

G

interleukin 4 receptor

severity

DNA:SNP: :rs1805010 (human)

RGD

NCBI chr 1:189,545,739...189,570,639
Ensembl chr 1:180,115,120...180,139,980

G

interleukin 5

RGD

NCBI chr10:38,375,132...38,378,003
Ensembl chr10:37,874,342...37,877,213

G

interleukin 6

CTD Direct Evidence: marker/mechanism

PMID:19192274 PMID:22450443

NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,213,394...5,219,178

G

interleukin 6 receptor

CTD Direct Evidence: marker/mechanism|therapeutic

PMID:16729287 PMID:23143596

NCBI chr 2:177,582,020...177,646,705
Ensembl chr 2:175,298,686...175,347,536

G

interleukin 6 cytokine family signal transducer

CTD Direct Evidence: marker/mechanism
OMIM:180300

NCBI chr 2:45,798,872...45,839,501
Ensembl chr 2:44,066,130...44,109,936

G

interleukin-1 receptor-associated kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr X:156,919,927...156,929,825
Ensembl chr X:151,768,777...151,778,521

G

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 4:59,092,914...59,104,596
Ensembl chr 4:58,127,640...58,139,267

G

interferon regulatory factor 8

CTD Direct Evidence: marker/mechanism

NCBI chr19:65,699,284...65,721,066
Ensembl chr19:48,790,588...48,811,829

G

integrin subunit alpha 6

CTD Direct Evidence: marker/mechanism

NCBI chr 3:77,012,168...77,097,076
Ensembl chr 3:56,617,268...56,689,428

G

inosine triphosphatase

treatment

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

RGD

NCBI chr 3:138,338,549...138,350,329
Ensembl chr 3:117,885,099...117,897,249

G

Janus kinase 2

RGD

NCBI chr 1:236,408,905...236,468,769
Ensembl chr 1:226,995,334...227,054,189

G

lysine acetyltransferase 2B

mRNA:increased expression:peripheral blood mononuclear cell

RGD

NCBI chr 9:6,799,101...6,903,616
Ensembl chr 9:6,562,288...6,667,064

G

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 7:64,937,210...64,974,339
Ensembl chr 7:63,049,424...63,092,858

G

lysine methyltransferase 2C

treatment

RGD

NCBI chr 4:10,353,698...10,755,965
Ensembl chr 4:9,609,627...9,833,539

G

lipocalin 2

CTD Direct Evidence: marker/mechanism

NCBI chr 3:36,078,432...36,081,851
Ensembl chr 3:15,680,687...15,684,095

G

LIM homeobox 2

CTD Direct Evidence: marker/mechanism

NCBI chr 3:22,113,619...22,143,909
Ensembl chr 3:22,126,007...22,143,908

G

leucine-rich repeat kinase 2

RGD

NCBI chr 7:124,706,246...124,867,234
Ensembl chr 7:122,826,696...122,987,703

G

lymphocyte antigen 96

CTD Direct Evidence: marker/mechanism

NCBI chr 5:7,365,536...7,397,864
Ensembl chr 5:2,582,254...2,612,386

G

mab-21 like 2

CTD Direct Evidence: marker/mechanism

NCBI chr 2:171,946,573...171,949,655
Ensembl chr 2:171,946,573...171,949,655

G

myristoylated alanine rich protein kinase C substrate

CTD Direct Evidence: marker/mechanism

NCBI chr20:42,240,185...42,245,882
Ensembl chr20:40,685,315...40,691,012

G

methyl-CpG binding domain protein 2

mRNA:increased expression:mononuclear cell

RGD

NCBI chr18:64,174,002...64,240,795
Ensembl chr18:64,174,002...64,240,794

G

methyl-CpG binding domain 4 DNA glycosylase

susceptibility
no_association

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

RGD

PMID:20676650 PMID:22505706

RGD:9588977, RGD:9588978

NCBI chr 4:150,565,646...150,577,433
Ensembl chr 4:148,894,280...148,904,982

G

midkine

RGD

NCBI chr 3:98,356,789...98,358,960
Ensembl chr 3:77,901,158...77,903,130

G

mitochondria-localized glutamic acid-rich protein

CTD Direct Evidence: marker/mechanism

NCBI chr 2:137,582,152...137,590,294
Ensembl chr 2:135,431,283...135,439,612

G

macrophage migration inhibitory factor

CTD Direct Evidence: marker/mechanism

NCBI chr20:12,767,138...12,791,222
Ensembl chr20:12,790,902...12,799,504
Ensembl chr 4:12,790,902...12,799,504

G

microRNA 146a

mRNA:decreased expression:cartilage tissue (human)
mRNA:increased expression:synovial (human)

RGD

PMID:31472145 PMID:22660635

RGD:152177908, RGD:155663483

NCBI chr10:28,349,996...28,350,090
Ensembl chr10:27,848,516...27,848,610

G

microRNA 23b

mRNA, protein:decreased expression:synovial (human)

RGD

NCBI chr17:1,819,386...1,819,482
Ensembl chr17:1,813,667...1,813,763

G

membrane metallo-endopeptidase-like 1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:170,713,602...170,744,058
Ensembl chr 5:165,431,343...165,461,716

G

matrix metallopeptidase 1

protein:increased expression:plasma (human)

RGD

NCBI chr 8:12,943,453...12,963,966
Ensembl chr 8:4,658,588...4,679,097

G

matrix metallopeptidase 10

CTD Direct Evidence: marker/mechanism

NCBI chr 8:12,974,707...12,982,613
Ensembl chr 8:4,689,840...4,697,748

G

matrix metallopeptidase 12

CTD Direct Evidence: marker/mechanism

NCBI chr 8:12,866,652...12,876,554
Ensembl chr 8:4,581,785...4,599,611

G

matrix metallopeptidase 14

OMIM:180300

NCBI chr15:31,857,824...31,867,049
Ensembl chr15:27,887,727...27,899,864

G

matrix metallopeptidase 2

CTD Direct Evidence: marker/mechanism

NCBI chr19:30,327,643...30,355,856
Ensembl chr19:14,154,657...14,182,870

G

matrix metallopeptidase 3

disease_progression

protein:increased expression:serum (human)

RGD

PMID:7639798 PMID:22314025 PMID:11796404

RGD:7207128, RGD:8693673, RGD:7241254

NCBI chr 8:12,925,267...12,938,828
Ensembl chr 8:4,640,416...4,653,961

G

matrix metallopeptidase 8

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

RGD

NCBI chr 8:13,008,873...13,018,729
Ensembl chr 8:4,724,029...4,733,520

G

matrix metallopeptidase 9

RGD

NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:153,683,858...153,692,120

G

myeloperoxidase

CTD Direct Evidence: marker/mechanism

PMID:22450443 PMID:26001728

NCBI chr10:73,092,124...73,102,057
Ensembl chr10:72,594,661...72,604,819

G

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1

DNA:missense mutations:cds:multiple (human)

RGD

NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694

G

methylenetetrahydrofolate reductase

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

CTD
RGD

PMID:22104130 PMID:23685257

NCBI chr 5:163,748,346...163,768,141
Ensembl chr 5:158,465,296...158,483,797

G

neutrophil cytosolic factor 1

induced

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

CTD
RGD

PMID:12833524 PMID:28135245 PMID:21275845

NCBI chr12:28,121,816...28,131,080
Ensembl chr12:22,485,451...22,494,646

G

neutrophil cytosolic factor 2

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

CTD
RGD

PMID:12833524 PMID:17897462

NCBI chr13:67,505,492...67,536,015
Ensembl chr13:64,955,503...64,986,277

G

neutrophil cytosolic factor 4

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

RGD

NCBI chr 7:111,705,926...111,723,893
Ensembl chr 7:109,826,020...109,843,389

G

NDUFA4, mitochondrial complex associated like 2

CTD Direct Evidence: marker/mechanism

NCBI chr 7:63,351,021...63,359,010
Ensembl chr 7:63,356,883...63,359,010

G

NFKB inhibitor epsilon

CTD Direct Evidence: marker/mechanism

NCBI chr 9:15,443,600...15,450,437
Ensembl chr 9:15,436,941...15,450,437

G

NFKB inhibitor like 1

susceptibility

DNA:snp:promoter:c.-132T>A (rs2071592) (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Rheumatoid arthritis

CTD
OMIM
ClinVar
RGD

PMID:12509789 PMID:12509789

NCBI chr20:3,595,319...3,610,295
Ensembl chr20:3,590,642...3,605,616

G

notch receptor 4

mRNA : increased expression: : cd4+ cells

RGD

NCBI chr20:4,164,969...4,189,072
Ensembl chr20:4,160,445...4,184,465

G

neuropeptide S receptor 1

RGD

NCBI chr 8:30,882,830...31,107,425
Ensembl chr 8:22,606,946...22,831,558

G

nuclear receptor subfamily 3, group C, member 1

mRNA:increased expression:paw

RGD

NCBI chr18:31,522,783...31,644,508
Ensembl chr18:31,271,681...31,393,375

G

nuclear receptor subfamily 4, group A, member 3

CTD Direct Evidence: marker/mechanism

NCBI chr 5:67,157,141...67,198,287
Ensembl chr 5:62,361,822...62,402,733

G

opioid receptor, mu 1

susceptibility

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

RGD

NCBI chr 1:45,565,371...45,818,722
Ensembl chr 1:43,160,057...43,413,409

G

peptidyl arginine deiminase 2

ClinVar Annotator: match by term: Rheumatoid arthritis

NCBI chr 5:158,492,087...158,534,662
Ensembl chr 5:153,209,053...153,251,632

G

peptidyl arginine deiminase 4

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

NCBI chr 5:158,324,417...158,357,466
Ensembl chr 5:153,041,352...153,074,362

G

platelet derived growth factor subunit B

RGD

NCBI chr 7:113,419,882...113,438,343
Ensembl chr 7:111,540,345...111,557,984

G

placental growth factor

RGD

NCBI chr 6:110,547,165...110,557,747
Ensembl chr 6:104,816,104...104,826,685

G

phosphoinositide-3-kinase regulatory subunit 1

mRNA:increased expression:cartilage tissue (human)

RGD

NCBI chr 2:34,612,946...34,697,660
Ensembl chr 2:32,882,032...32,963,631

G

phospholipase A2 group VII

RGD

NCBI chr 9:24,859,491...24,901,747
Ensembl chr 9:17,362,225...17,404,476

G

plasminogen activator, urokinase receptor

RGD

NCBI chr 1:89,181,363...89,196,308
Ensembl chr 1:80,050,324...80,068,595

G

phospholipase B1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:29,807,127...29,945,607
Ensembl chr 6:24,089,214...24,210,117

G

phospholipase D family, member 4

CTD Direct Evidence: marker/mechanism

NCBI chr 6:137,639,948...137,647,462
Ensembl chr 6:131,818,860...131,826,376

G

pleckstrin

CTD Direct Evidence: marker/mechanism

NCBI chr14:95,598,650...95,631,326
Ensembl chr14:91,397,019...91,454,131

G

paraoxonase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:34,261,312...34,292,327
Ensembl chr 4:33,294,722...33,321,360

G

POU class 3 homeobox 1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:142,195,090...142,198,070
Ensembl chr 5:136,910,391...136,913,371

G

PR/SET domain 1

CTD Direct Evidence: marker/mechanism

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

NCBI chr20:49,542,465...49,564,088
Ensembl chr20:47,959,858...47,981,488

G

protein kinase C, theta

CTD Direct Evidence: marker/mechanism

PMID:18794853 PMID:20453842 PMID:23143596

NCBI chr17:72,156,215...72,288,508
Ensembl chr17:67,246,394...67,378,704

G

prostaglandin-endoperoxide synthase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:39,981,419...40,002,993
Ensembl chr 3:19,584,015...19,605,586

G

prostaglandin-endoperoxide synthase 2

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:11978490 PMID:19192274 PMID:21905970

NCBI chr13:64,714,063...64,722,320
Ensembl chr13:62,163,932...62,172,188

G

protein tyrosine kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 7:107,015,730...107,220,865
Ensembl chr 7:105,126,728...105,331,783

G

protein tyrosine phosphatase, non-receptor type 2

CTD Direct Evidence: marker/mechanism

NCBI chr18:63,498,890...63,564,571
Ensembl chr18:61,229,014...61,294,627

G

protein tyrosine phosphatase, non-receptor type 22

susceptibility
no_association

DNA:snp:cds:p.R620W (rs2476601) (human)
ClinVar Annotator: match by term: Rheumatoid arthritis
CTD Direct Evidence: marker/mechanism
DNA:SNP::1858C>T (human)
DNA:snp:cds:p.R263Q (rs33996649) (human)

ClinVar
OMIM
CTD
RGD

PMID:19898480 PMID:20453842 PMID:21190368 PMID:23143596 PMID:25741868 More...

RGD:6484535, RGD:7829746, RGD:6484595

NCBI chr 2:194,055,165...194,103,209
Ensembl chr 2:191,366,808...191,414,779

G

protein tyrosine phosphatase, receptor type, C

CTD Direct Evidence: marker/mechanism

PMID:20453842 PMID:23143596

NCBI chr13:52,147,717...52,259,810
Ensembl chr13:49,596,193...49,708,692

G

PX domain containing serine/threonine kinase like

CTD Direct Evidence: marker/mechanism

NCBI chr15:16,759,857...16,828,452
Ensembl chr15:16,759,862...16,828,444

G

RAB8A, member RAS oncogene family

CTD Direct Evidence: marker/mechanism

NCBI chr16:17,688,049...17,709,412
Ensembl chr16:17,654,034...17,675,678

G

RAP2A, member of RAS oncogene family

CTD Direct Evidence: marker/mechanism

NCBI chr15:104,003,744...104,004,234
Ensembl chr15:97,596,020...97,624,138

G

RAS guanyl releasing protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:124,624,039...124,684,079
Ensembl chr 3:104,170,013...104,230,056

G

recombination signal binding protein for immunoglobulin kappa J region

CTD Direct Evidence: marker/mechanism

PMID:20453842 PMID:23143596

NCBI chr14:61,551,366...61,736,220
Ensembl chr14:57,338,507...57,523,353

G

regulator of calcineurin 1

CTD Direct Evidence: marker/mechanism

NCBI chr11:45,108,123...45,188,065
Ensembl chr11:31,622,210...31,702,045

G

REL proto-oncogene, NF-kB subunit

CTD Direct Evidence: marker/mechanism

PMID:19503088 PMID:20453842 PMID:23143596

NCBI chr14:101,891,238...101,922,324
Ensembl chr14:97,695,161...97,720,892

G

repulsive guidance molecule BMP co-receptor b

CTD Direct Evidence: marker/mechanism

NCBI chr 1:56,766,598...56,792,396
Ensembl chr 1:56,767,850...56,792,425

G

RT1 class II, locus Ba

DNA:polymorphisms (human)
DNA:polymorphism (human)

RGD

PMID:11482129 PMID:11454644

RGD:5147859, RGD:5147860

NCBI chr20:4,577,057...4,581,650
Ensembl chr20:4,575,134...4,579,744

G

RT1 class II, locus Bb

DNA:polymorphism (human)

RGD

NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,596,559...4,607,597

G

RT1 class II, locus Db1

susceptibility

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

CTD
RGD

PMID:19898480 PMID:20453842 PMID:22286218 PMID:18512783 PMID:11454644 More...

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

NCBI chr20:4,550,594...4,560,182
Ensembl chr20:4,548,666...4,558,258

G

RT1 class II, locus Hb, pseudogene 1

CTD Direct Evidence: marker/mechanism

PMID:17956852 PMID:22286218

NCBI chr20:4,777,494...4,781,486
Ensembl chr20:4,774,650...4,780,618

G

RUNX family transcription factor 1

no_association

DNA:SNPs: :rs2242720, rs4816502 (human)
CTD Direct Evidence: marker/mechanism
DNA:SNP: :rs2268277 (human)
DNA:SNP:intron:24658G>C (human)

CTD
RGD

PMID:23143596 PMID:20018071 PMID:18087673 PMID:18328148 PMID:16821265

RGD:6482836, RGD:6482840, RGD:6482839, RGD:6482837

NCBI chr11:45,325,778...45,560,300
Ensembl chr11:31,843,764...32,074,542

G

RUNX family transcription factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 9:23,661,278...23,990,248
Ensembl chr 9:16,167,482...16,492,167

G

semaphorin 3C

protein:increased expression:knee, synovium (human)

RGD

NCBI chr 4:18,538,452...18,702,453
Ensembl chr 4:17,583,212...17,746,534

G

solute carrier family 11 member 1

severity

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

CTD
RGD

PMID:16597321 PMID:12135431 PMID:10719815

RGD:5684967, RGD:5684971

NCBI chr 9:83,406,327...83,417,252
Ensembl chr 9:75,957,316...75,968,101

G

solute carrier family 22 member 4

susceptibility

ClinVar Annotator: match by term: Rheumatoid arthritis | ClinVar Annotator: match by term: SLC22A4-related condition
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

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

NCBI chr10:38,634,098...38,687,409
Ensembl chr10:38,133,322...38,179,720

G

solute carrier family 25 member 12

CTD Direct Evidence: marker/mechanism

NCBI chr 3:76,504,868...76,599,536
Ensembl chr 3:56,097,269...56,192,100

G

spermine synthase

CTD Direct Evidence: marker/mechanism

NCBI chr X:41,331,693...41,387,713
Ensembl chr X:37,516,931...37,570,822
Ensembl chr 3:37,516,931...37,570,822

G

superoxide dismutase 2

CTD Direct Evidence: marker/mechanism

PMID:12833524 PMID:15292528 PMID:24313545

NCBI chr 1:50,043,323...50,050,168
Ensembl chr 1:47,636,528...47,645,189

G

secreted phosphoprotein 1

RGD

NCBI chr14:5,613,569...5,620,695
Ensembl chr14:5,308,885...5,315,162

G

sprouty-related, EVH1 domain containing 2

CTD Direct Evidence: marker/mechanism

PMID:20453842 PMID:23143596

NCBI chr14:98,350,577...98,452,143
Ensembl chr14:94,148,837...94,249,162

G

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

CTD Direct Evidence: marker/mechanism

PMID:17379860 PMID:17568789

NCBI chr 2:241,741,933...241,911,214
Ensembl chr 2:241,742,688...241,911,208

G

signal transducer and activator of transcription 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:56,911,522...56,951,926
Ensembl chr 9:49,419,340...49,588,540

G

signal transducer and activator of transcription 3

associated with T-cell large granular lymphocyte leukemia

RGD

NCBI chr10:86,311,528...86,363,513
Ensembl chr10:85,811,218...85,863,057

G

signal transducer and activator of transcription 4

CTD Direct Evidence: marker/mechanism

PMID:20453842 PMID:23143596

NCBI chr 9:56,964,617...57,080,523
Ensembl chr 9:49,419,340...49,588,540

G

steroid sulfatase

CTD Direct Evidence: marker/mechanism

NCBI chr X:46,102,524...46,110,868
Ensembl chr X:42,225,372...42,233,402

G

SPT20 homolog, SAGA complex component

ClinVar Annotator: match by term: Rheumatoid arthritis

NCBI chr 2:141,047,479...141,080,656
Ensembl chr 2:138,897,416...138,930,495

G

TGF-beta activated kinase 1/MAP3K7 binding protein 2

mRNA, protein:increased expression:synovial (human)

RGD

NCBI chr 1:4,195,400...4,245,485
Ensembl chr 1:2,375,490...2,424,756

G

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

mRNA, protein:increased expression:synovial (human)

RGD

NCBI chr X:53,923,473...53,995,777
Ensembl chr X:49,972,330...50,042,056

G

T-cell activation RhoGTPase activating protein

CTD Direct Evidence: marker/mechanism

PMID:20453842 PMID:23143596

NCBI chr 1:49,575,750...49,584,747
Ensembl chr 1:47,170,725...47,179,792

G

transporter 2, ATP binding cassette subfamily B member

RGD

NCBI chr20:4,638,257...4,652,296
Ensembl chr20:4,636,357...4,650,407

G

tissue factor pathway inhibitor 2

CTD Direct Evidence: marker/mechanism

PMID:15292528 PMID:17379860

NCBI chr 4:32,936,462...32,941,385
Ensembl chr 4:31,982,178...31,986,600

G

thrombomodulin

RGD

NCBI chr 3:156,316,526...156,320,178
Ensembl chr 3:135,862,835...135,867,193

G

TLE family member 3, transcriptional corepressor

CTD Direct Evidence: marker/mechanism

NCBI chr 8:70,753,182...70,799,080
Ensembl chr 8:61,858,200...61,903,493

G

toll-like receptor 1

ClinVar Annotator: match by term: Rheumatoid arthritis

NCBI chr14:43,737,761...43,750,389
Ensembl chr14:43,384,932...43,397,125

G

toll-like receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 2:171,499,189...171,504,831
Ensembl chr 2:169,197,419...169,206,630

G

thymopoietin

CTD Direct Evidence: marker/mechanism

NCBI chr 7:27,529,977...27,554,980
Ensembl chr 7:25,586,725...25,667,727

G

tumor necrosis factor

treatment
no_association

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

MouseDO
CTD
RGD

PMID:2001072 PMID:8391952 PMID:12566094 PMID:22450443 PMID:34459104 More...

RGD:10450537, RGD:155663483, RGD:12904065, RGD:12904065

NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629

G

TNF alpha induced protein 2

CTD Direct Evidence: marker/mechanism

NCBI chr 6:130,476,832...130,489,914
Ensembl chr 6:130,476,889...130,489,914

G

TNF alpha induced protein 3

CTD Direct Evidence: marker/mechanism

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

NCBI chr 1:15,528,921...15,543,993
Ensembl chr 1:13,709,206...13,725,282

G

TNF receptor superfamily member 11B

CTD Direct Evidence: therapeutic

NCBI chr 7:87,456,318...87,484,324
Ensembl chr 7:85,566,520...85,594,538

G

TNF receptor superfamily member 14

CTD Direct Evidence: marker/mechanism

NCBI chr 5:170,768,413...170,776,749
Ensembl chr 5:165,484,262...165,493,703

G

TNF receptor superfamily member 1A

treatment

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

RGD

NCBI chr 4:159,837,119...159,849,817
Ensembl chr 4:158,150,820...158,163,591

G

TNF superfamily member 14

CTD Direct Evidence: marker/mechanism

NCBI chr 9:2,155,270...2,160,100
Ensembl chr 9:2,069,104...2,073,216

G

TNF receptor-associated factor 1

CTD Direct Evidence: marker/mechanism

PMID:18794853 PMID:23143596

NCBI chr 3:38,607,707...38,639,641
Ensembl chr 3:18,222,054...18,241,807

G

TNF receptor associated factor 6

CTD Direct Evidence: marker/mechanism

PMID:20453842 PMID:23143596

NCBI chr 3:108,418,537...108,443,330
Ensembl chr 3:87,963,514...87,983,507

G

triggering receptor expressed on myeloid cells 1

treatment

RGD

NCBI chr 9:20,259,227...20,276,879
Ensembl chr 9:12,763,819...12,779,203

G

thioredoxin domain containing 5

CTD Direct Evidence: marker/mechanism

NCBI chr17:26,495,467...26,523,608
Ensembl chr17:26,289,880...26,318,025

G

thioredoxin interacting protein

CTD Direct Evidence: marker/mechanism

NCBI chr 2:186,781,933...186,785,736
Ensembl chr 2:184,092,991...184,096,886

G

tyrosine kinase 2

CTD Direct Evidence: marker/mechanism

PMID:23143596 PMID:30224649

NCBI chr 8:27,918,054...27,943,319
Ensembl chr 8:19,641,884...19,667,044

G

thymidylate synthetase

treatment

DNA:polymorphism: :

RGD

NCBI chr 9:120,760,057...120,776,149
Ensembl chr 9:113,313,452...113,329,536

G

transmembrane immune signaling adaptor Tyrobp

treatment

RGD

NCBI chr 1:94,800,372...94,804,307
Ensembl chr 1:85,672,994...85,676,848

G

vitamin D receptor

no_association

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

RGD

PMID:21820934 PMID:21820934

RGD:8158077, RGD:8158077

NCBI chr 7:130,864,764...130,916,757
Ensembl chr 7:128,987,981...129,037,677

G

vascular endothelial growth factor A

disease_progression

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

CTD
RGD

PMID:16368150 PMID:24387171

NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:14,955,300...14,970,641

G

vimentin

RGD

NCBI chr17:81,577,261...81,585,746
Ensembl chr17:76,668,647...76,677,187

G

zeta chain of T cell receptor associated protein kinase 70

OMIM:180300

NCBI chr 9:46,485,605...46,507,552
Ensembl chr 9:38,989,750...39,011,700

G

zinc finger protein 36

OMIM:180300

NCBI chr 1:92,796,628...92,799,108
Ensembl chr 1:83,669,084...83,671,564

scleroderma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

RT1 class I, locus CE16

susceptibility

DNA:polymorphisms:HLA-A30, 32

NCBI chr20:3,261,656...3,265,548
Ensembl chr20:3,257,123...3,279,563

G

solute carrier family 39 member 13

ClinVar Annotator: match by term: Scleroderma

PMID:25741868 PMID:28492532

NCBI chr 3:77,039,411...77,047,528
Ensembl chr 3:77,037,565...77,049,226

Sclerotylosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

SNF2 related chromatin remodeling ATPase with DExD box 1

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Keratoderma with scleroatrophy of the extremities

OMIM
CTD
ClinVar

PMID:4298032 PMID:8731679 PMID:10631162 PMID:24909267 PMID:25741868 More...

NCBI chr 4:94,311,441...94,379,184
Ensembl chr 4:94,311,489...94,372,563

SHORT STATURE AND ADVANCED BONE AGE, WITH OR WITHOUT EARLY-ONSET OSTEOARTHRITIS AND/OR OSTEOCHONDRITIS DISSECANS

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aggrecan

ClinVar Annotator: match by term: Short stature and advanced bone age | ClinVar Annotator: match by term: Short stature and advanced bone age, with early-onset osteoarthritis | ClinVar Annotator: match by term: Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans | ClinVar Annotator: match by term: Short stature-advanced bone age-early-onset osteoarthritis syndrome

PMID:9536098 PMID:14216462 PMID:16080123 PMID:16199547 PMID:17576681 More...

NCBI chr 1:142,390,951...142,453,779
Ensembl chr 1:132,981,582...133,043,627

Sjogren's syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

autoimmune regulator

OMIM:270150

NCBI chr20:10,635,775...10,650,709
Ensembl chr20:10,636,123...10,651,060

G

apolipoprotein E

onset

DNA:polymorphism:exon:

RGD

NCBI chr 1:88,481,889...88,485,816
Ensembl chr 1:79,353,916...79,357,932

G

brain-derived neurotrophic factor

severity

protein:increased expression:serum:

RGD

NCBI chr 3:116,619,633...116,670,212
Ensembl chr 3:96,165,042...96,215,615

G

bone marrow stromal cell antigen 2

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

RGD

NCBI chr16:18,216,605...18,220,979
Ensembl chr16:18,217,407...18,220,979

G

complement C3

RGD

NCBI chr 9:2,174,412...2,201,339
Ensembl chr 9:2,087,437...2,114,429

G

carbonic anhydrase 1

RGD

NCBI chr 2:88,550,681...88,593,454
Ensembl chr 2:86,861,897...86,872,208

G

carbonic anhydrase 2

RGD

PMID:15831920 PMID:12806141

RGD:408425973, RGD:408425977

NCBI chr 2:88,462,883...88,478,012
Ensembl chr 2:86,741,626...86,756,818

G

calpastatin

associated with Lupus Erythematosus, Systemic

RGD

NCBI chr 2:5,707,633...5,817,213
Ensembl chr 2:3,973,112...4,082,659

G

C-C motif chemokine receptor 5

no_association

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

RGD

PMID:12412204 PMID:23773920

RGD:8551796, RGD:8551818

NCBI chr 8:132,629,097...132,660,980
Ensembl chr 8:123,752,325...123,759,260

G

C-C motif chemokine receptor 7

OMIM:270150

NCBI chr10:84,594,399...84,604,514
Ensembl chr10:84,097,381...84,108,309

G

CD40 ligand

protein:increased expression:salivary ductal epithelium (human)

RGD

NCBI chr X:140,164,341...140,176,057
Ensembl chr X:135,126,969...135,138,306

G

C-reactive protein

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

RGD

PMID:2353152 PMID:16013223

RGD:9491774, RGD:9491835

NCBI chr13:87,694,062...87,695,978
Ensembl chr13:85,124,977...85,175,178

G

cytotoxic T-lymphocyte-associated protein 4

susceptibility

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

RGD

PMID:16869018 PMID:12528117

RGD:7421506, RGD:7421519

NCBI chr 9:69,812,859...69,819,959
Ensembl chr 9:62,319,312...62,324,963

G

cytochrome P450, family 19, subfamily a, polypeptide 1

OMIM:270150

NCBI chr 8:63,449,148...63,476,534
Ensembl chr 8:54,553,165...54,580,758

G

cytochrome P450, family 1, subfamily a, polypeptide 1

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

RGD

NCBI chr 8:66,991,940...66,998,014
Ensembl chr 8:58,096,077...58,102,125

G

diacylglycerol kinase, theta

CTD Direct Evidence: marker/mechanism

NCBI chr14:1,203,380...1,217,536
Ensembl chr14:1,059,170...1,073,131

G

E2F transcription factor 1

OMIM:270150

NCBI chr 3:163,524,739...163,535,563
Ensembl chr 3:143,049,478...143,075,361

G

Fas cell surface death receptor

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

PMID:9890678 PMID:9870874 PMID:11157873

RGD:8662410, RGD:8662451, RGD:8662436

NCBI chr 1:241,212,155...241,245,774
Ensembl chr 1:231,798,960...231,832,591

G

Fc gamma receptor 2A

CTD Direct Evidence: marker/mechanism

NCBI chr13:85,813,516...85,830,269
Ensembl chr13:83,280,784...83,295,967

G

glial cell derived neurotrophic factor

RGD

NCBI chr 2:58,621,327...58,647,242
Ensembl chr 2:56,895,010...56,917,209

G

general transcription factor II I

CTD Direct Evidence: marker/mechanism

NCBI chr12:28,037,344...28,112,677
Ensembl chr12:22,401,431...22,476,243

G

heme oxygenase 1

treatment

RGD

NCBI chr19:13,452,365...13,479,823
Ensembl chr19:13,467,244...13,474,079

G

heterogeneous nuclear ribonucleoprotein H1

RGD

NCBI chr10:35,187,412...35,203,909
Ensembl chr10:34,693,555...34,702,846

G

intercellular adhesion molecule 1

treatment

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

RGD

PMID:11359451 PMID:21589878 PMID:15037117

RGD:8158122, RGD:8547705, RGD:8547696

NCBI chr 8:27,829,688...27,841,618
Ensembl chr 8:19,553,645...19,565,438

G

inhibitor of DNA binding 3

OMIM:270150

NCBI chr 5:153,656,253...153,657,860
Ensembl chr 5:148,372,762...148,374,349

G

interferon gamma

RGD

PMID:15584966 PMID:28421993

RGD:8142390, RGD:14975117

NCBI chr 7:55,789,180...55,793,216
Ensembl chr 7:53,903,337...53,907,375

G

interleukin 10

RGD

NCBI chr13:45,024,921...45,029,586
Ensembl chr13:42,472,839...42,477,313

G

interleukin 12A

CTD Direct Evidence: marker/mechanism

NCBI chr 2:155,275,734...155,282,997
Ensembl chr 2:152,965,769...152,972,734

G

interleukin 13

protein:increased expression:serum

RGD

NCBI chr10:38,290,926...38,293,483
Ensembl chr10:37,790,130...37,792,737

G

interleukin 17A

RGD

NCBI chr 9:30,640,844...30,644,331
Ensembl chr 9:23,144,402...23,147,889

G

interleukin 18

protein:increased expression:saliva

RGD

NCBI chr 8:59,802,072...59,829,275
Ensembl chr 8:50,906,960...50,932,887

G

interleukin 1 receptor antagonist

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

RGD

PMID:9646842 PMID:11527941

RGD:8549786, RGD:8549807

NCBI chr 3:27,509,836...27,525,738
Ensembl chr 3:7,111,550...7,127,445

G

interleukin 2

OMIM:270150

NCBI chr 2:121,932,968...121,937,672
Ensembl chr 2:120,004,862...120,009,566

G

interleukin 23 receptor

protein:increased expression:minor salivary gland:

RGD

NCBI chr 4:97,910,230...98,003,759
Ensembl chr 4:96,580,714...96,674,021

G

interleukin 2 receptor subunit alpha

OMIM:270150

NCBI chr17:71,759,802...71,808,475
Ensembl chr17:66,849,974...66,898,697

G

interleukin 4

OMIM:270150

NCBI chr10:38,272,003...38,277,549
Ensembl chr10:37,771,203...37,776,750

G

interleukin 6

severity

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

RGD

PMID:11426023 PMID:11426023

RGD:7829718, RGD:7829718

NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,213,394...5,219,178

G

interleukin-1 receptor-associated kinase 1 binding protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:83,731,512...83,748,289
Ensembl chr 8:83,731,507...83,748,289

G

intersectin 2

CTD Direct Evidence: marker/mechanism

NCBI chr 6:27,616,645...27,727,373
Ensembl chr 6:27,600,406...27,727,124

G

lymphotoxin alpha

no_association
susceptibility

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

RGD

PMID:20952683 PMID:22294627 PMID:22294627 PMID:20952683

RGD:8548776, RGD:8548787, RGD:8548787, RGD:8548776

NCBI chr20:3,622,291...3,625,852
Ensembl chr20:3,618,853...3,620,859

G

mitogen-activated protein kinase kinase kinase 14

OMIM:270150

NCBI chr10:88,165,349...88,215,558
Ensembl chr10:88,165,351...88,215,523

G

matrix metallopeptidase 3

RGD

NCBI chr 8:12,925,267...12,938,828
Ensembl chr 8:4,640,416...4,653,961

G

matrix metallopeptidase 9

protein:increased activity:saliva

RGD

PMID:15316122 PMID:9923658

RGD:8547814, RGD:8547858

NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:153,683,858...153,692,120

G

mucin 16, cell surface associated

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

RGD

NCBI chr 8:24,440,840...24,644,494

G

mucin 19, oligomeric

mRNA:decreased expression:conjunctival epithelial cell
OMIM:270150

NCBI chr 7:124,897,424...125,018,582
Ensembl chr 7:123,017,896...123,139,053

G

mucin 5AC, oligomeric mucus/gel-forming

mRNA:decreased expression:conjunctival epithelial cell

RGD

NCBI chr 1:206,293,717...206,326,006
Ensembl chr 1:196,864,336...196,896,475

G

neutrophil cytosolic factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr12:28,121,816...28,131,080
Ensembl chr12:22,485,451...22,494,646

G

neurofilament light chain

protein:increased expression:CSF (human)

RGD

NCBI chr15:46,477,330...46,481,203
Ensembl chr15:42,301,916...42,305,793

G

NFKB inhibitor alpha

OMIM:270150

NCBI chr 6:78,593,844...78,597,307
Ensembl chr 6:72,858,712...72,861,941

G

pleckstrin homology domain interacting protein

CTD Direct Evidence: marker/mechanism

NCBI chr 8:92,656,890...92,771,098
Ensembl chr 8:83,781,465...83,894,283

G

paraoxonase 1

protein:decreased activity:serum (human)

RGD

NCBI chr 4:34,261,312...34,292,327
Ensembl chr 4:33,294,722...33,321,360

G

PR/SET domain 1

CTD Direct Evidence: marker/mechanism

NCBI chr20:49,542,465...49,564,088
Ensembl chr20:47,959,858...47,981,488

G

protein tyrosine phosphatase, non-receptor type 22

no_association

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

RGD

PMID:16163373 PMID:15933742

RGD:11534998, RGD:11534999

NCBI chr 2:194,055,165...194,103,209
Ensembl chr 2:191,366,808...191,414,779

G

PTTG1 regulator of sister chromatid separation, securin

CTD Direct Evidence: marker/mechanism

NCBI chr10:28,394,940...28,406,410
Ensembl chr10:27,893,689...27,904,837

G

regenerating family member 1 alpha

protein:increased expression:minor salivary gland, salivary ductal epithelium (human)

RGD

NCBI chr 4:112,450,466...112,453,130
Ensembl chr 4:110,892,453...110,895,570

G

RAR-related orphan receptor C

OMIM:270150

NCBI chr 2:184,698,779...184,723,942
Ensembl chr 2:182,009,286...182,034,907

G

RT1 class II, locus Ba

susceptibility

DNA:polymorphism:cds:HLA-DQA1*0101 (human)
DNA:polymorphisms::HLA-DQA1*0501,LA-DQA1*0301/2;

RGD

PMID:11555411 PMID:21315052

RGD:5147809, RGD:7421543

NCBI chr20:4,577,057...4,581,650
Ensembl chr20:4,575,134...4,579,744

G

RT1 class II, locus Bb

susceptibility

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

RGD

PMID:21315052 PMID:17489060 PMID:8468491

RGD:7421543, RGD:36174022, RGD:7483566

NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,596,559...4,607,597

G

RT1 class II, locus Db1

susceptibility

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

RGD

NCBI chr20:4,550,594...4,560,182
Ensembl chr20:4,548,666...4,558,258

G

SATB homeobox 1

OMIM:270150

NCBI chr 9:4,916,958...5,010,359
Ensembl chr 9:4,680,920...4,753,251

G

selectin P

protein:increased expression:plasma

RGD

NCBI chr13:79,009,379...79,044,994
Ensembl chr13:76,476,295...76,511,845

G

ST14 transmembrane serine protease matriptase

OMIM:270150

NCBI chr 8:29,540,805...29,581,704
Ensembl chr 8:29,540,811...29,581,517

G

signal transducer and activator of transcription 4

susceptibility
no_association

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

CTD
RGD

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

RGD:8661690, RGD:8661709, RGD:8661708

NCBI chr 9:56,964,617...57,080,523
Ensembl chr 9:49,419,340...49,588,540

G

transforming growth factor, beta 1

severity

OMIM:270150

PMID:9358754 PMID:7554451

RGD:7394829, RGD:7394845

NCBI chr 1:90,324,312...90,340,627
Ensembl chr 1:81,196,532...81,212,847

G

thrombospondin 1

OMIM:270150

NCBI chr 3:125,510,250...125,525,402
Ensembl chr 3:105,056,292...105,071,440

G

tumor necrosis factor

treatment

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

RGD

PMID:22703762 PMID:24941846

RGD:7394766, RGD:10450595

NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629

G

TNF alpha induced protein 3

CTD Direct Evidence: marker/mechanism

PMID:24097066 PMID:24097067

NCBI chr 1:15,528,921...15,543,993
Ensembl chr 1:13,709,206...13,725,282

G

TNF superfamily member 13b

OMIM:270150

NCBI chr16:86,164,377...86,195,072
Ensembl chr16:79,462,402...79,492,693

G

TNFAIP3 interacting protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:39,537,759...39,585,038
Ensembl chr10:39,037,058...39,077,625

G

Traf3 interacting protein 2

OMIM:270150

NCBI chr20:44,565,992...44,609,240
Ensembl chr20:43,011,450...43,054,667

G

vimentin

RGD

NCBI chr17:81,577,261...81,585,746
Ensembl chr17:76,668,647...76,677,187

G

vasoactive intestinal peptide

RGD

NCBI chr 1:44,470,232...44,478,561
Ensembl chr 1:42,065,120...42,073,216

Sjögren-Mikulicz Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

glutathione S-transferase mu 1

susceptibility

DNA:deletion: :

RGD

NCBI chr 2:198,338,005...198,346,007
Ensembl chr 2:195,649,845...195,655,411

Spine Osteoarthritis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

dual specificity phosphatase 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:17,184,853...17,187,646

G

interleukin 6

CTD Direct Evidence: marker/mechanism

NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,213,394...5,219,178

G

LDL receptor related protein 5

susceptibility

DNA:polymorphism:cds:p.Q89R(human)

RGD

NCBI chr 1:210,243,499...210,346,886
Ensembl chr 1:200,814,250...200,917,581

G

microRNA 337

CTD Direct Evidence: marker/mechanism

NCBI chr 6:134,321,142...134,321,238
Ensembl chr 6:128,538,902...128,538,998

G

S-phase kinase associated protein 2

CTD Direct Evidence: marker/mechanism

NCBI chr 2:59,888,406...59,916,471
Ensembl chr 2:58,161,229...58,189,338

G

tumor necrosis factor

CTD Direct Evidence: marker/mechanism

NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629

Subcutaneous Panniculitis-like T-Cell Lymphoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

hepatitis A virus cellular receptor 2

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: HAVCR2-related condition | ClinVar Annotator: match by term: Subcutaneous panniculitis-like T-cell lymphoma

CTD
ClinVar
OMIM

PMID:25741868 PMID:28492532 PMID:30374066 PMID:30429576 PMID:30792187 More...

NCBI chr10:31,383,801...31,415,334
Ensembl chr10:30,882,606...30,909,137

Systemic Juvenile Rheumatoid Arthritis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

indoleamine 2,3-dioxygenase 1

RGD

NCBI chr16:74,133,259...74,145,328
Ensembl chr16:67,430,578...67,442,730

G

interleukin 6

susceptibility

CTD Direct Evidence: marker/mechanism

NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,213,394...5,219,178

G

interleukin 6 receptor

treatment

RGD

NCBI chr 2:177,582,020...177,646,705
Ensembl chr 2:175,298,686...175,347,536

G

macrophage migration inhibitory factor

susceptibility

CTD Direct Evidence: marker/mechanism

NCBI chr20:12,767,138...12,791,222
Ensembl chr20:12,790,902...12,799,504
Ensembl chr 4:12,790,902...12,799,504

systemic lupus erythematosus

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiotensin I converting enzyme

GAD

NCBI chr10:91,410,129...91,430,246
Ensembl chr10:90,910,316...90,931,131

G

ADAM metallopeptidase with thrombospondin type 1 motif, 13

protein:decreased expression:plasma (human)

RGD

NCBI chr 3:10,299,264...10,338,464
Ensembl chr 3:10,300,028...10,346,687

G

adiponectin, C1Q and collagen domain containing

RGD

NCBI chr11:91,226,524...91,240,244
Ensembl chr11:77,721,912...77,735,564

G

advanced glycosylation end product-specific receptor

DNA:polymorphisms:promoter, intron:g.-429T>C rs1800625, g.-374T>A rs1800624, g.2184A>G rs3134940 (human)

RGD

NCBI chr20:4,152,758...4,155,956
Ensembl chr20:4,147,890...4,151,078

G

angiotensin II receptor, type 2

RGD

NCBI chr X:116,914,320...116,918,504
Ensembl chr X:112,120,228...112,124,057

G

annexin A3

CTD Direct Evidence: marker/mechanism

NCBI chr14:13,031,675...13,085,678
Ensembl chr14:12,719,795...12,781,617

G

apolipoprotein A1

treatment
severity

RGD

PMID:20482780 PMID:20131231

RGD:7241863, RGD:7241864

NCBI chr 8:55,423,945...55,425,729
Ensembl chr 8:46,527,144...46,529,035

G

autophagy related 5

OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420

NCBI chr20:49,380,835...49,471,826
Ensembl chr20:47,798,290...47,889,209

G

autophagy related 7

OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420

NCBI chr 4:149,390,000...149,597,534
Ensembl chr 4:147,718,752...147,925,593

G

ATR interacting protein

ClinVar Annotator: match by term: Systemic lupus erythematosus

PMID:16845398 PMID:17293595 PMID:17660818 PMID:17660820 PMID:17846997 More...

NCBI chr 8:118,586,909...118,600,975
Ensembl chr 8:109,708,440...109,722,477

G

B-cell scaffold protein with ankyrin repeats 1

susceptibility

DNA:SNPs:introns:
ClinVar Annotator: match by term: Systemic lupus erythematosus
CTD Direct Evidence: marker/mechanism

ClinVar
CTD
RGD

PMID:18204447 PMID:25741868 PMID:18204447

NCBI chr 2:227,203,998...227,474,008
Ensembl chr 2:224,530,475...224,800,405

G

beclin 1

OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420

NCBI chr10:86,731,649...86,747,002
Ensembl chr10:86,231,388...86,246,742

G

BLK proto-oncogene, Src family tyrosine kinase

DNA:snp:promoter:rs13277113 (human)
ClinVar Annotator: match by term: Systemic lupus erythematosus
CTD Direct Evidence: marker/mechanism

ClinVar
CTD
RGD

PMID:18204098 PMID:19667185 PMID:19838193 PMID:24023612 PMID:25741868 More...

NCBI chr15:41,802,701...41,841,004
Ensembl chr15:37,627,039...37,665,031

G

bridge-like lipid transfer protein family member 3A

CTD Direct Evidence: marker/mechanism

NCBI chr20:5,910,261...5,954,641
Ensembl chr20:5,910,260...5,952,404

G

complement C1q A chain

CTD Direct Evidence: marker/mechanism
OMIM:152700 | OMIM:300809 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420

NCBI chr 5:154,417,086...154,419,933
Ensembl chr 5:149,133,636...149,136,534

G

complement C2

RGD

NCBI chr20:3,944,722...3,975,006
Ensembl chr20:3,951,474...3,976,505

G

complement C3

severity

protein:increased processing

RGD

NCBI chr 9:2,174,412...2,201,339
Ensembl chr 9:2,087,437...2,114,429

G

complement C3a receptor 1

protein:increased expression:lung, leukocyte

RGD

NCBI chr 4:157,747,419...157,756,609
Ensembl chr 4:156,075,389...156,084,701

G

complement C4A

RGD

NCBI chr20:4,010,306...4,024,707
Ensembl chr20:4,005,731...4,020,080

G

complement C4B

OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420

NCBI chr20:4,201,979...4,216,292
Ensembl chr20:4,197,366...4,211,681

G

complement C5a receptor 1

protein:increased expression:lung, leukocyte

RGD

NCBI chr 1:86,077,309...86,088,001

G

carbonic anhydrase 1

RGD

NCBI chr 2:88,550,681...88,593,454
Ensembl chr 2:86,861,897...86,872,208

G

carbonic anhydrase 2

RGD

NCBI chr 2:88,462,883...88,478,012
Ensembl chr 2:86,741,626...86,756,818

G

calpastatin

RGD

NCBI chr 2:5,707,633...5,817,213
Ensembl chr 2:3,973,112...4,082,659

G

catalase

CTD Direct Evidence: marker/mechanism

NCBI chr 3:110,297,340...110,329,526
Ensembl chr 3:89,842,399...89,874,478

G

C-C motif chemokine ligand 2

susceptibility
no_association

DNA:snp:promoter:g.-2518A>G (human)

RGD

PMID:20414371 PMID:11844145

RGD:11528535, RGD:11528536

NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,005,424...67,007,226

G

C-C motif chemokine ligand 4

disease_progression

protein:increased expression:serum

RGD

NCBI chr10:68,963,893...68,965,728
Ensembl chr10:68,452,052...68,468,231

G

C-C motif chemokine receptor 3

severity

RGD

NCBI chr 8:132,463,533...132,511,601
Ensembl chr 8:123,616,236...123,634,990

G

C-C motif chemokine receptor 5

mRNA:increased expression:blood, mononuclear cell

RGD

NCBI chr 8:132,629,097...132,660,980
Ensembl chr 8:123,752,325...123,759,260

G

CD226 molecule

CTD Direct Evidence: marker/mechanism

NCBI chr18:84,723,330...84,819,836
Ensembl chr18:82,450,568...82,543,051

G

Cd4 molecule

treatment

RGD

NCBI chr 4:159,355,147...159,381,636
Ensembl chr 4:157,668,878...157,695,191

G

CD40 molecule

susceptibility

DNA:SNP: :rs4810485 (human)
DNA:SNP: :rs3765456 (human)

RGD

PMID:21914625 PMID:23256180

RGD:5490522, RGD:7248721

NCBI chr 3:174,209,113...174,224,592
Ensembl chr 3:153,790,449...153,805,534

G

CD40 ligand

protein:increased expression:serum
OMIM:152700 | OMIM:300809 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420
CTD Direct Evidence: marker/mechanism

MouseDO
CTD
RGD

PMID:28793932 PMID:20726330 PMID:9036998

RGD:7248426, RGD:11352248

NCBI chr X:140,164,341...140,176,057
Ensembl chr X:135,126,969...135,138,306

G

CD46 molecule

severity

mRNA:increased expression:leukocyte (human)

RGD

NCBI chr13:109,104,122...109,134,903
Ensembl chr13:106,574,858...106,660,445

G

Cd80 molecule

RGD

NCBI chr11:75,760,073...75,798,978
Ensembl chr11:62,254,624...62,292,030

G

cyclin-dependent kinase inhibitor 1A

OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420

NCBI chr20:7,150,820...7,161,373
Ensembl chr20:7,149,217...7,159,585

G

complement factor B

CTD Direct Evidence: marker/mechanism

NCBI chr20:3,975,271...3,981,138
Ensembl chr20:3,951,474...3,976,505

G

complement factor H

susceptibility

RGD

NCBI chr13:54,063,079...54,164,523
Ensembl chr13:51,511,828...51,613,838

G

chromatin assembly factor 1 subunit A

RGD

NCBI chr 9:961,225...987,825
Ensembl chr 9:874,051...900,654

G

class II, major histocompatibility complex, transactivator

resistance
no_association

DNA:polymorphism:intron:g.485A>G (human)
DNA:polymorphism:promoter:rs3087456A, in a Japanese cohort A allele was protective/decreased risk of developing disease (p=0.006) (human)
DNA:polymorphism:promoter:rs3087456 (human)

RGD

PMID:15897313 PMID:17693604 PMID:17711409

RGD:5491190, RGD:5491204, RGD:5491203

NCBI chr10:5,646,854...5,694,393
Ensembl chr10:5,140,178...5,187,440

G

C-type lectin domain containing 16A

CTD Direct Evidence: marker/mechanism

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

G

clusterin

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

CTD
RGD

PMID:15304052 PMID:10090169

NCBI chr15:44,336,619...44,375,861
Ensembl chr15:40,174,617...40,200,315

G

complement C3d receptor 2

susceptibility

protein:decreased expression:B cell
ClinVar Annotator: match by term: CR2-related condition | ClinVar Annotator: match by term: Systemic lupus erythematosus, susceptibility to, 9
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD
RGD

PMID:9536098 PMID:17576681 PMID:24029428 PMID:24033266 PMID:25741868 More...

NCBI chr13:109,207,034...109,244,980
Ensembl chr13:106,685,413...106,716,235

G

C-reactive protein

disease_progression
treatment
no_association

CTD Direct Evidence: marker/mechanism

PMID:8261665 PMID:17718048 PMID:17014014 PMID:20039408 PMID:8261665

RGD:6909144, RGD:6907402, RGD:6909146, RGD:6909144

NCBI chr13:87,694,062...87,695,978
Ensembl chr13:85,124,977...85,175,178

G

colony stimulating factor 1

RGD

NCBI chr 2:198,065,400...198,084,774
Ensembl chr 2:195,377,215...195,411,704

G

C-terminal Src kinase

CTD Direct Evidence: marker/mechanism

NCBI chr 8:66,925,650...66,944,861
Ensembl chr 8:58,029,749...58,048,292

G

cytotoxic T-lymphocyte-associated protein 4

disease_progression

ClinVar Annotator: match by term: Systemic lupus erythematosus | ClinVar Annotator: match by term: Systemic lupus erythematosus, susceptibility to
CTD Direct Evidence: marker/mechanism
DNA:polymorphisms:exons:Japanese(human)

OMIM
ClinVar
CTD
RGD

PMID:8817351 PMID:9259273 PMID:9398726 PMID:10189842 PMID:10475192 More...

RGD:7204684, RGD:7204691

NCBI chr 9:69,812,859...69,819,959
Ensembl chr 9:62,319,312...62,324,963

G

C-X3-C motif chemokine receptor 1

severity

mRNA:increased expression:blood, mononuclear cell

RGD

NCBI chr 8:128,661,294...128,679,048
Ensembl chr 8:119,782,595...119,800,014

G

C-X-C motif chemokine receptor 2

severity

RGD

NCBI chr 9:83,178,645...83,185,017
Ensembl chr 9:75,729,115...75,739,425

G

cytochrome b-245 beta chain

OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420

NCBI chr X:16,030,596...16,065,065
Ensembl chr X:13,359,430...13,392,586

G

cytochrome P450, family 1, subfamily a, polypeptide 1

susceptibility

DNA:polymorphism:3' utr:3801T>C (rs4646903)
DNA:SNP: :4887C>A (human)
DNA:SNP: :p.I462V (human)

RGD

PMID:19561157 PMID:14611903 PMID:10599336

RGD:5147672, RGD:1581249, RGD:5147680

NCBI chr 8:66,991,940...66,998,014
Ensembl chr 8:58,096,077...58,102,125

G

DEF6 guanine nucleotide exchange factor

CTD Direct Evidence: marker/mechanism
OMIM:152700 | OMIM:300809 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420

NCBI chr20:6,268,579...6,290,030
Ensembl chr20:6,268,601...6,289,961

G

deoxyribonuclease 1

susceptibility

ClinVar Annotator: match by term: DNASE1-related condition | ClinVar Annotator: match by term: Systemic lupus erythematosus | ClinVar Annotator: match by term: Systemic lupus erythematosus, susceptibility to
OMIM:152700 | OMIM:300809 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
MouseDO
CTD

PMID:10835632 PMID:11479590 PMID:15333586 PMID:18486922 PMID:24206041 More...

NCBI chr10:12,005,305...12,030,615
Ensembl chr10:11,498,931...11,501,869

G

deoxyribonuclease 1L3

CTD Direct Evidence: marker/mechanism

NCBI chr15:19,351,683...19,378,536
Ensembl chr15:16,922,335...16,948,317

G

deoxyribonuclease 2, lysosomal

ClinVar Annotator: match by term: Systemic lupus erythematosus

NCBI chr19:40,149,505...40,152,225
Ensembl chr19:23,244,664...23,247,376

G

DNA methyltransferase 1

no_association

mRNA:decreased expression:T cell:

RGD

PMID:21595664 PMID:18194272

RGD:9588656, RGD:9588670

NCBI chr 8:27,716,797...27,763,405
Ensembl chr 8:19,440,611...19,486,659

G

elastin

RGD

NCBI chr12:27,604,983...27,648,413
Ensembl chr12:21,968,544...22,011,928

G

endoglin

ClinVar Annotator: match by term: Systemic lupus erythematosus

PMID:9536098 PMID:17576681 PMID:28492532 PMID:32190976

NCBI chr 3:36,332,190...36,370,324
Ensembl chr 3:15,934,518...15,973,230

G

E1A binding protein p300

OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420

NCBI chr 7:114,987,857...115,058,652
Ensembl chr 7:113,106,247...113,136,088
Ensembl chr 7:113,106,247...113,136,088

G

erythropoietin receptor

RGD

NCBI chr 8:28,765,738...28,770,371
Ensembl chr 8:20,489,678...20,494,257

G

estrogen receptor 2

susceptibility

DNA:SNP: :rs4986938 (human)
mRNA:decreased expression:leukocyte,mononuclear
DNA:repeats:intron:
mRNA:increased expression: :

RGD

PMID:20961965 PMID:17336162 PMID:17874259 PMID:20305046 PMID:20627037

RGD:5508738, RGD:5508844, RGD:5508843, RGD:5508817, RGD:5508813

NCBI chr 6:100,589,553...100,645,240
Ensembl chr 6:94,809,547...94,908,919

G

ETS proto-oncogene 1, transcription factor

CTD Direct Evidence: marker/mechanism

NCBI chr 8:39,303,936...39,426,022
Ensembl chr 8:31,045,945...31,168,010

G

coagulation factor II, thrombin

susceptibility

DNA:SNP: :19911A>G (rs3136516) (human)

RGD

PMID:21239755 PMID:20807656

RGD:5147772, RGD:5147776

NCBI chr 3:98,051,958...98,065,246
Ensembl chr 3:77,596,198...77,609,486

G

family with sequence similarity 210, member B

OMIM:152700 | OMIM:300809 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420

NCBI chr 3:161,118,228...161,128,400
Ensembl chr 3:161,118,239...161,128,397

G

Fas cell surface death receptor

susceptibility

DNA:snps:promoter:g.-1377G>A, g.-670A>G (human)
CTD Direct Evidence: marker/mechanism
OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420
protein:increased expression:T lymphocyte:
protein:increased expression:serum (human)

CTD
MouseDO
RGD

PMID:36999444 PMID:23053964 PMID:7531628 PMID:9182923

RGD:8662433, RGD:11049450, RGD:8662437

NCBI chr 1:241,212,155...241,245,774
Ensembl chr 1:231,798,960...231,832,591

G

Fc gamma receptor 2A

susceptibility
no_association

CTD Direct Evidence: marker/mechanism
DNA:polymorphism: :p.H131R (human)
protein:decreased expression:blood, monocyte
DNA:SNP (human)

PMID:18204446 PMID:21719445 PMID:8254199 PMID:11561111 PMID:14747618 More...

RGD:5147916, RGD:5147984, RGD:5147979, RGD:5147976, RGD:5147973, RGD:5147972, RGD:5147926

NCBI chr13:85,813,516...85,830,269
Ensembl chr13:83,280,784...83,295,967

G

Fc gamma receptor 2B

susceptibility
no_association
severity
treatment

DNA:snps, haplotype:promoter:g.-386G>C, g.-120T>A (human)
OMIM:152700 | OMIM:300809 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Systemic lupus erythematosus, susceptibility to
DNA:SNPs:exon, intron:10849T>C (rs1050501), 10950T>G (rs6666965) (human)
DNA:SNP:intron:11045G>T (rs12117530) (human)
DNA:snp:promoter:g.-386G>C (rs3219018) (human)

OMIM
MouseDO
CTD
ClinVar
RGD

PMID:12115230 PMID:15459183 PMID:15895258 PMID:16115811 PMID:16170323 More...

RGD:1547879, RGD:11056171, RGD:11056171, RGD:9588603, RGD:9588566, RGD:7240540, RGD:1547880

NCBI chr13:85,725,897...85,740,517
Ensembl chr13:83,193,163...83,207,778

G

Fc gamma receptor 3A

susceptibility

protein:decreased expression:NK cell
DNA:CNVs
DNA:SNPs:exon:rs403016,rs428888(human)

RGD

PMID:21370226 PMID:25154742 PMID:18625651

RGD:5508389, RGD:11344974, RGD:5508444

NCBI chr13:85,782,636...85,792,656
Ensembl chr13:83,249,872...83,259,921

G

growth arrest and DNA-damage-inducible, alpha

OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420

NCBI chr 4:97,484,497...97,486,799
Ensembl chr 4:96,154,789...96,157,115

G

glutathione S-transferase mu 1

susceptibility

DNA:deletion: :

RGD

NCBI chr 2:198,338,005...198,346,007
Ensembl chr 2:195,649,845...195,655,411

G

heat shock protein family A (Hsp70) member 1A

DNA:SNP: :rs1043618 (human)

RGD

NCBI chr20:3,875,411...3,877,866
Ensembl chr20:3,856,006...3,873,227

G

heat shock protein family A (Hsp70) member 1 like

DNA:SNPs: :rs2075800, rs2227956 (human)

RGD

NCBI chr20:3,853,496...3,860,223
Ensembl chr20:3,848,843...3,855,571

G

heat shock protein family D (Hsp60) member 1

protein:increased expression:serum:

RGD

NCBI chr 9:64,073,610...64,084,332
Ensembl chr 9:56,579,201...56,589,662

G

interferon induced with helicase C domain 1

CTD Direct Evidence: marker/mechanism
OMIM:152700 | OMIM:300809 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420

PMID:19838195 PMID:24686847

NCBI chr 3:67,635,924...67,683,968
Ensembl chr 3:47,227,364...47,275,456

G

interferon gamma

mRNA:increased expression:leukocyte,mononuclear
mRNA:increased expression:kidney (human)
protein:increased expression:renal glomerulus

RGD

PMID:22759859 PMID:22660635 PMID:29925830

RGD:6893373, RGD:155663483, RGD:14974252

NCBI chr 7:55,789,180...55,793,216
Ensembl chr 7:53,903,337...53,907,375

G

IKAROS family zinc finger 1

CTD Direct Evidence: marker/mechanism

NCBI chr14:90,468,696...90,556,522
Ensembl chr14:86,255,065...86,342,416

G

IKAROS family zinc finger 3

OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420

NCBI chr10:83,956,850...84,049,861
Ensembl chr10:83,465,745...83,553,591

G

interleukin 10

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:19838195 PMID:20728533 PMID:12486603

NCBI chr13:45,024,921...45,029,586
Ensembl chr13:42,472,839...42,477,313

G

interleukin 12B

CTD Direct Evidence: marker/mechanism

PMID:19838195 PMID:26808113

NCBI chr10:29,390,300...29,405,194
Ensembl chr10:28,893,008...28,902,903

G

interleukin 13

protein:increased expression:serum

RGD

NCBI chr10:38,290,926...38,293,483
Ensembl chr10:37,790,130...37,792,737

G

interleukin 17A

protein:increased expression:epidermis (human)
mRNA:increased expression:kidney (human)

RGD

PMID:20493423 PMID:22660635

RGD:8698667, RGD:155663483

NCBI chr 9:30,640,844...30,644,331
Ensembl chr 9:23,144,402...23,147,889

G

interleukin 1 beta

DNA:SNPs, haplotype:promoter:-511C>T, 3953C>T (human)
mRNA:increased expression:kidney (human)

RGD

PMID:15470475 PMID:22660635

RGD:7401214, RGD:155663483

NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:116,577,010...116,583,415

G

interleukin 1 receptor antagonist

protein:increased expression:plasma (human)
DNA:polymorphism:exon:g.14709C>T rs315952 (human)

RGD

PMID:20805419 PMID:17176440

RGD:6906963, RGD:6907356

NCBI chr 3:27,509,836...27,525,738
Ensembl chr 3:7,111,550...7,127,445

G

interleukin 2

RGD

NCBI chr 2:121,932,968...121,937,672
Ensembl chr 2:120,004,862...120,009,566

G

interleukin 21

susceptibility

CTD Direct Evidence: marker/mechanism
DNA:SNP:intron: (rs907715) (human)

CTD
RGD

PMID:17911475 PMID:23236436

NCBI chr 2:122,045,240...122,055,142
Ensembl chr 2:120,119,444...120,126,996

G

interleukin 21 receptor

CTD Direct Evidence: therapeutic
DNA:polymorphism: : rs3093301 (human)

CTD
RGD

PMID:17911475 PMID:20424514 PMID:19164519 PMID:19644854

RGD:6892931, RGD:6892937, RGD:6892933

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

G

interleukin 23 receptor

protein:increased expression:T cell:

RGD

NCBI chr 4:97,910,230...98,003,759
Ensembl chr 4:96,580,714...96,674,021

G

interleukin 4

CTD Direct Evidence: marker/mechanism

NCBI chr10:38,272,003...38,277,549
Ensembl chr10:37,771,203...37,776,750

G

interleukin 5

RGD

NCBI chr10:38,375,132...38,378,003
Ensembl chr10:37,874,342...37,877,213

G

interleukin 6

CTD Direct Evidence: marker/mechanism

NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,213,394...5,219,178

G

inositol polyphosphate-5-phosphatase D

OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420

NCBI chr 9:95,735,533...95,840,584
Ensembl chr 9:88,287,677...88,392,746

G

interleukin-1 receptor-associated kinase 4

CTD Direct Evidence: marker/mechanism

NCBI chr 7:127,561,777...127,588,762
Ensembl chr 7:125,682,488...125,717,837

G

interferon regulatory factor 5

susceptibility

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Systemic lupus erythematosus, association with susceptibility to, 10 | ClinVar Annotator: match by term: Systemic lupus erythematosus, susceptibility to, 10

CTD
OMIM
ClinVar

PMID:15657875 PMID:16642019 PMID:17189288 PMID:17393452 PMID:17476532 More...

NCBI chr 4:59,092,914...59,104,596
Ensembl chr 4:58,127,640...58,139,267

G

interferon regulatory factor 8

susceptibility

DNA:SNP: (rs4843869) (human)

RGD

NCBI chr19:65,699,284...65,721,066
Ensembl chr19:48,790,588...48,811,829

G

integrin subunit alpha M

CTD Direct Evidence: marker/mechanism

PMID:18204446 PMID:18204448

NCBI chr 1:192,089,496...192,139,947
Ensembl chr 1:182,659,000...182,709,503

G

Janus kinase 1

OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420

NCBI chr 5:120,895,606...121,004,207
Ensembl chr 5:115,780,248...115,888,926

G

Janus kinase 2

RGD

NCBI chr 1:236,408,905...236,468,769
Ensembl chr 1:226,995,334...227,054,189

G

JAZF zinc finger 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:83,210,054...83,513,790
Ensembl chr 4:81,881,061...82,183,100

G

JunB proto-oncogene, AP-1 transcription factor subunit

OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420

NCBI chr19:40,081,126...40,082,910
Ensembl chr19:23,176,294...23,178,035

G

kallikrein B1

susceptibility

DNA:SNPs:promoter:

RGD

NCBI chr16:53,690,180...53,714,570
Ensembl chr16:46,958,707...46,982,053

G

lamin B receptor

OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420

NCBI chr13:96,071,058...96,095,709
Ensembl chr13:93,538,920...93,564,017

G

low density lipoprotein receptor

mRNA:decreased expression:leukocyte

RGD

NCBI chr 8:28,546,191...28,569,075
Ensembl chr 8:20,270,041...20,294,580

G

LYN proto-oncogene, Src family tyrosine kinase

OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420

NCBI chr 5:21,437,127...21,553,097
Ensembl chr 5:16,639,466...16,756,868

G

mannosidase, alpha, class 2A, member 1

OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420

NCBI chr 9:111,698,913...111,855,257
Ensembl chr 9:104,252,001...104,408,349

G

mannose binding lectin 2

susceptibility

DNA:SNP:exon
DNA:SNP,haplotype:cds:p.G54D,G57E(human)

RGD

PMID:21510992 PMID:11561111

RGD:6903266, RGD:5147979

NCBI chr 1:237,429,873...237,465,567

G

MEFV innate immunity regulator, pyrin

ClinVar Annotator: match by term: Systemic lupus erythematosus

PMID:5458961 PMID:7677151 PMID:9668175 PMID:10090880 PMID:10737995 More...

NCBI chr10:12,288,514...12,303,337
Ensembl chr10:11,787,422...11,796,973

G

microRNA 146a

mRNA:increased expression:kidney (human)
mRNA:increased expression:kidney (mouse)

RGD

PMID:22660635 PMID:22660635

RGD:155663483, RGD:155663483

NCBI chr10:28,349,996...28,350,090
Ensembl chr10:27,848,516...27,848,610

G

microRNA 23b

treatment

mRNA, protein:decreased expression:kidney (human)
mRNA:decreased expression:kidney (human)

PMID:22660635 PMID:22660635 PMID:22660635

RGD:155663483, RGD:155663483, RGD:155663483

NCBI chr17:1,819,386...1,819,482
Ensembl chr17:1,813,667...1,813,763

G

marker of proliferation Ki-67

RGD

NCBI chr 1:199,926,150...199,952,847
Ensembl chr 1:190,496,319...190,522,762

G

monocyte to macrophage differentiation-associated

associated with Pregnancy Complications;mRNA:increased expression:blood (human)

RGD

NCBI chr10:75,570,366...75,598,610
Ensembl chr10:75,073,365...75,101,528

G

matrix metallopeptidase 1

protein:increased expression:plasma (human)

RGD

NCBI chr 8:12,943,453...12,963,966
Ensembl chr 8:4,658,588...4,679,097

G

mitochondrially encoded ATP synthase membrane subunit 6

DNA:transition:cds:m.9055A>G (human)

RGD

NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599

G

metastasis associated 1 family, member 2

OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420

NCBI chr 1:215,267,286...215,276,008
Ensembl chr 1:205,837,964...205,846,946

G

N-acetyltransferase 2

susceptibility

DNA:polymorphism: :

RGD

NCBI chr16:26,974,874...27,005,191
Ensembl chr16:22,208,194...22,238,520

G

neutrophil cytosolic factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr12:28,121,816...28,131,080
Ensembl chr12:22,485,451...22,494,646

G

nucleotide-binding oligomerization domain containing 2

susceptibility

protein:increased expression:monocyte
DNA:mutation:cds:p.G908R (rs2066845)(human)

RGD

PMID:21886831 PMID:16642031

RGD:5508746, RGD:13204710

NCBI chr19:34,555,832...34,596,281
Ensembl chr19:18,382,439...18,417,177

G

nitric oxide synthase 2

mRNA:increased expression:bone marrow macrophage (mouse)

RGD

NCBI chr10:64,313,335...64,349,221
Ensembl chr10:63,815,308...63,851,210

G

purinergic receptor P2Y12

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:15304052 PMID:15304052

NCBI chr 2:145,631,487...145,673,194
Ensembl chr 2:143,481,430...143,523,361

G

poly (ADP-ribose) polymerase 1

RGD

NCBI chr13:94,839,484...94,871,295
Ensembl chr13:92,307,586...92,339,404

G

pecanex 3

CTD Direct Evidence: marker/mechanism

NCBI chr 1:212,380,657...212,402,967
Ensembl chr 1:202,951,322...202,976,561

G

programmed cell death 1

DNA:polymorphism: : 7,146 G>A (human)
OMIM:152700 | OMIM:300809 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420

PMID:17228327 PMID:19116915

RGD:7248674, RGD:7248679

NCBI chr 9:101,866,124...101,879,278
Ensembl chr 9:94,418,791...94,431,937

G

placental growth factor

protein:increased expression:serum

RGD

NCBI chr 6:110,547,165...110,557,747
Ensembl chr 6:104,816,104...104,826,685

G

PHD and ring finger domains 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:196,333,663...196,366,901
Ensembl chr 1:196,333,903...196,366,892

G

phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma

RGD

NCBI chr 6:54,494,247...54,529,563
Ensembl chr 6:48,766,864...48,802,043

G

phospholipase D family, member 4

OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420

NCBI chr 6:137,639,948...137,647,462
Ensembl chr 6:131,818,860...131,826,376

G

DNA polymerase beta

OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420

NCBI chr16:76,081,903...76,105,174
Ensembl chr16:69,379,400...69,404,812

G

peroxisome proliferator-activated receptor gamma

OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420

NCBI chr 4:150,095,743...150,221,104
Ensembl chr 4:148,423,194...148,548,468

G

protein phosphatase 2, regulatory subunit B, beta

RGD

NCBI chr18:34,904,686...35,357,299
Ensembl chr18:34,653,721...35,081,025

G

PR/SET domain 1

CTD Direct Evidence: marker/mechanism
OMIM:152700 | OMIM:300809 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420

NCBI chr20:49,542,465...49,564,088
Ensembl chr20:47,959,858...47,981,488

G

perforin 1

severity

RGD

NCBI chr20:29,789,040...29,794,550
Ensembl chr20:29,246,202...29,251,701

G

prolactin

CTD Direct Evidence: marker/mechanism

NCBI chr17:38,287,355...38,298,234
Ensembl chr17:37,860,007...37,870,062

G

prostaglandin-endoperoxide synthase 2

CTD Direct Evidence: marker/mechanism

NCBI chr13:64,714,063...64,722,320
Ensembl chr13:62,163,932...62,172,188

G

protein tyrosine phosphatase, non-receptor type 22

susceptibility

DNA:missense mutation:cds:p.R620W (human)
ClinVar Annotator: match by term: Systemic lupus erythematosus
CTD Direct Evidence: marker/mechanism
DNA:snp:cds:c.1858C>T (human)
DNA:snp:introns:c.87+1492C>T, c.828+186G>A (rs1217414, rs3765598) (human)
DNA:missense mutation:cds:p.R263Q (human)

ClinVar
OMIM
CTD
RGD

PMID:18204446 PMID:21190368 PMID:25741868 PMID:17092257 PMID:23076337 More...

RGD:5147973, RGD:11534992, RGD:11533999, RGD:11532755

NCBI chr 2:194,055,165...194,103,209
Ensembl chr 2:191,366,808...191,414,779

G

protein tyrosine phosphatase, receptor type, C

OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420

NCBI chr13:52,147,717...52,259,810
Ensembl chr13:49,596,193...49,708,692

G

PX domain containing serine/threonine kinase like

CTD Direct Evidence: marker/mechanism

NCBI chr15:16,759,857...16,828,452
Ensembl chr15:16,759,862...16,828,444

G

RAS guanyl releasing protein 1

CTD Direct Evidence: marker/mechanism
OMIM:152700 | OMIM:300809 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420

NCBI chr 3:124,624,039...124,684,079
Ensembl chr 3:104,170,013...104,230,056

G

RAS guanyl releasing protein 3

CTD Direct Evidence: marker/mechanism

NCBI chr 6:25,647,386...25,745,952
Ensembl chr 6:19,895,390...19,958,578

G

Ras association domain family member 5

OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420

NCBI chr13:45,189,768...45,255,277
Ensembl chr13:42,637,549...42,703,024

G

ring finger and CCCH-type domains 1

OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420

NCBI chr13:75,707,098...75,779,114
Ensembl chr13:73,173,946...73,238,839

G

resistin

RGD

NCBI chr12:6,508,653...6,511,115
Ensembl chr12:1,710,881...1,712,620

G

Ro60, Y RNA binding protein

OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420

NCBI chr13:58,049,838...58,070,828
Ensembl chr13:55,499,534...55,520,504

G

ribosomal protein L12

RGD

NCBI chr 3:16,264,269...16,266,645
Ensembl chr 3:16,264,251...16,266,642

G

ribosomal protein L14

RGD

NCBI chr 8:129,163,620...129,166,745
Ensembl chr 8:120,284,645...120,289,064

G

RT1 class II, locus Ba

CTD Direct Evidence: marker/mechanism

NCBI chr20:4,577,057...4,581,650
Ensembl chr20:4,575,134...4,579,744

G

RT1 class II, locus Bb

susceptibility

DNA:polymorphisms: :multiple (human)
DNA:polymorphisms:cds:HLA-DQB1*0201 (human)

PMID:12651073 PMID:21658414 PMID:18552411

RGD:40902999, RGD:5147560, RGD:5147620

NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,596,559...4,607,597

G

RT1 class II, locus Db1

susceptibility

DNA:polymorphisms: :multiple (human)
DNA:polymorphisms:cds:HLA-DRB1*0301 (human)
CTD Direct Evidence: marker/mechanism
DNA:polymorphisms:cds:HLA-DRB1*0301, HLA-DRB1*1501 (human)

PMID:11436868 PMID:12651073 PMID:21658414 PMID:20191587

RGD:40902999, RGD:5147560, RGD:5147581

NCBI chr20:4,550,594...4,560,182
Ensembl chr20:4,548,666...4,558,258

G

rubicon autophagy regulator

OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420

NCBI chr11:67,907,534...67,964,347
Ensembl chr11:67,907,516...67,964,314

G

retinoid X receptor alpha

OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420

NCBI chr 3:31,387,892...31,474,415
Ensembl chr 3:10,989,832...11,073,712

G

selectin L

RGD

NCBI chr13:78,950,100...78,969,604
Ensembl chr13:76,416,915...76,436,456

G

surfactant protein D

protein:decreased expression:serum

RGD

NCBI chr16:17,080,575...17,093,047
Ensembl chr16:17,046,483...17,059,927

G

SH2B adaptor protein 3

CTD Direct Evidence: marker/mechanism

NCBI chr12:40,391,755...40,414,336
Ensembl chr12:34,731,911...34,753,616

G

sialic acid binding Ig-like lectin 5

CTD Direct Evidence: marker/mechanism

NCBI chr 1:93,768,190...93,776,696
Ensembl chr 1:93,768,319...93,776,694

G

solute carrier family 11 member 1

DNA:deletion:3' utr: (human)

RGD

NCBI chr 9:83,406,327...83,417,252
Ensembl chr 9:75,957,316...75,968,101

G

solute carrier family 15 member 4

CTD Direct Evidence: marker/mechanism

NCBI chr12:34,684,583...34,718,429
Ensembl chr12:29,063,015...29,082,480

G

small nuclear ribonucleoprotein U1 subunit 70

RGD

PMID:10940910 PMID:22454191

RGD:10448935, RGD:10448939

NCBI chr 1:104,992,518...105,012,851
Ensembl chr 1:95,856,036...95,876,392

G

small nuclear ribonucleoprotein polypeptide C

RGD

NCBI chr20:5,890,229...5,908,410
Ensembl chr20:5,888,453...5,906,638
Ensembl chr10:5,888,453...5,906,638

G

small nuclear ribonucleoprotein D1 polypeptide

severity

mouse model

RGD

NCBI chr18:1,969,351...1,980,207
Ensembl chr18:1,696,852...1,708,256

G

small nuclear ribonucleoprotein D2 polypeptide

RGD

NCBI chr 1:87,926,030...87,929,259
Ensembl chr 1:78,798,377...78,803,351
Ensembl chr20:78,798,377...78,803,351

G

small nuclear ribonucleoprotein D3 polypeptide

RGD

NCBI chr20:13,129,555...13,145,100
Ensembl chr20:13,130,119...13,145,978

G

suppressor of cytokine signaling 1

ClinVar Annotator: match by term: Systemic lupus erythematosus

PMID:33087723 PMID:14499118

NCBI chr10:5,389,574...5,391,265
Ensembl chr10:4,882,560...4,884,383

G

superoxide dismutase 2

DNA:SNP, haplotype: :1183C>T (human)

RGD

NCBI chr 1:50,043,323...50,050,168
Ensembl chr 1:47,636,528...47,645,189

G

signal transducer and activator of transcription 4

susceptibility
onset
treatment

ClinVar Annotator: match by term: STAT4-related condition | ClinVar Annotator: match by term: Systemic lupus erythematosus, susceptibility to, 11
CTD Direct Evidence: marker/mechanism
DNA:SNPs:intron:multiple (human)
DNA:SNPs:introns:c.274-23582A>C, c.274-2691G>A, c.466-1307G>A (rs7574865, rs11889341, rs10168266) (human)
DNA:SNP:intron:c.274-28828C>G (rs10181656) (human)
DNA:SNP:intron:c.274-23582A>C (rs7574865) (human)
DNA:SNP:intron:c.274-29069G>C (rs7582694) (human)

OMIM
ClinVar
CTD
RGD

PMID:17804842 PMID:18204446 PMID:19109131 PMID:19838193 PMID:19838195 More...

RGD:7207867, RGD:7207881, RGD:7207879, RGD:7207878, RGD:7207877, RGD:7207874, RGD:7207869

NCBI chr 9:56,964,617...57,080,523
Ensembl chr 9:49,419,340...49,588,540

G

synaptogyrin 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:113,516,246...113,542,918
Ensembl chr 7:111,635,918...111,659,341

G

TGF-beta activated kinase 1/MAP3K7 binding protein 2

mRNA, protein:increased expression:kidney (human)

RGD

NCBI chr 1:4,195,400...4,245,485
Ensembl chr 1:2,375,490...2,424,756

G

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

mRNA, protein:increased expression:kidney (human)

RGD

NCBI chr X:53,923,473...53,995,777
Ensembl chr X:49,972,330...50,042,056

G

transporter 1, ATP binding cassette subfamily B member

no_association

RGD

NCBI chr20:4,658,171...4,668,543
Ensembl chr20:4,656,263...4,666,901

G

transporter 2, ATP binding cassette subfamily B member

susceptibility
no_association

RGD

PMID:12634240 PMID:9014588

RGD:6482273, RGD:6482277

NCBI chr20:4,638,257...4,652,296
Ensembl chr20:4,636,357...4,650,407

G

transcription factor 7

CTD Direct Evidence: marker/mechanism

NCBI chr10:36,924,363...36,954,279
Ensembl chr10:36,423,445...36,453,535

G

telomerase reverse transcriptase

CTD Direct Evidence: marker/mechanism

NCBI chr 1:31,465,766...31,488,650
Ensembl chr 1:29,637,506...29,659,561

G

tissue factor pathway inhibitor

protein:decreased expression:plasma:

RGD

NCBI chr 3:89,939,862...89,989,253
Ensembl chr 3:69,533,156...69,576,880

G

thrombomodulin

protein:increased expression:serum

RGD

NCBI chr 3:156,316,526...156,320,178
Ensembl chr 3:135,862,835...135,867,193

G

T-cell immunoglobulin and mucin domain containing 4

OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420

NCBI chr10:31,686,994...31,723,095
Ensembl chr10:31,185,731...31,220,966

G

toll-like receptor 4

RGD

NCBI chr 5:85,161,247...85,174,882
Ensembl chr 5:80,145,826...80,159,628

G

toll-like receptor 5

ClinVar Annotator: match by term: Systemic lupus erythematosus, resistance to, 1
CTD Direct Evidence: marker/mechanism

ClinVar
OMIM
CTD

PMID:14623910 PMID:16027372 PMID:23447684

NCBI chr13:97,166,430...97,190,642
Ensembl chr13:94,634,801...94,657,738

G

toll-like receptor 7

OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420
ClinVar Annotator: match by term: Systemic lupus erythematosus

MouseDO
ClinVar

NCBI chr X:30,644,324...30,670,796
Ensembl chr X:27,027,425...27,054,754

G

toll-like receptor 9

susceptibility
severity

DNA:snp:exon:c.1635C>T rs352140 (human)
mRNA:increased expression:B lymphocyte (mouse)

RGD

PMID:19130296 PMID:21592581 PMID:16973389

RGD:5130767, RGD:7246894, RGD:7245988

NCBI chr 8:115,743,407...115,747,523
Ensembl chr 8:106,864,680...106,868,796

G

tumor necrosis factor

protein:increased expression:serum
mRNA:increased expression:kidney (human)
ClinVar Annotator: match by term: Systemic lupus erythematosus, susceptibility to
DNA:polymorphisms, haplotype:promoter:multiple (human)

PMID:8056188 PMID:9818939 PMID:10450718 PMID:11261930 PMID:11506397 More...

RGD:7245570, RGD:155663483, RGD:7245571

NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629

G

TNF alpha induced protein 3

CTD Direct Evidence: marker/mechanism

PMID:19165918 PMID:19165919 PMID:19838193 PMID:21336280

NCBI chr 1:15,528,921...15,543,993
Ensembl chr 1:13,709,206...13,725,282

G

TNF receptor superfamily member 13B

OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420

NCBI chr10:46,301,336...46,322,460
Ensembl chr10:45,801,860...45,822,987

G

TNF receptor superfamily member 1A

severity

protein:increased expression:serum

RGD

NCBI chr 4:159,837,119...159,849,817
Ensembl chr 4:158,150,820...158,163,591

G

TNF receptor superfamily member 1B

severity
no_association

protein:increased expression:serum
DNA:missense mutation:cds:p.M196R (human)

RGD

PMID:8393677 PMID:11607787

RGD:7245539, RGD:7245571

NCBI chr 5:162,356,250...162,387,411
Ensembl chr 5:157,070,642...157,104,206

G

TNF superfamily member 4

CTD Direct Evidence: marker/mechanism

PMID:18059267 PMID:19838193

NCBI chr13:76,256,654...76,280,133
Ensembl chr13:73,723,329...73,746,788

G

TNFAIP3 interacting protein 1

CTD Direct Evidence: marker/mechanism

PMID:19838193 PMID:19838195

NCBI chr10:39,537,759...39,585,038
Ensembl chr10:39,037,058...39,077,625

G

Traf3 interacting protein 2

OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420

NCBI chr20:44,565,992...44,609,240
Ensembl chr20:43,011,450...43,054,667

G

three prime repair exonuclease 1

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Systemic lupus erythematosus
ClinVar Annotator: match by term: CR2-related condition | ClinVar Annotator: match by term: Systemic lupus erythematosus

CTD
OMIM
ClinVar

PMID:16845398 PMID:17293595 PMID:17660818 PMID:17660820 PMID:17846997 More...

NCBI chr 8:118,585,082...118,586,382
Ensembl chr 8:109,706,613...109,708,796

G

vascular cell adhesion molecule 1

severity

RGD

NCBI chr 2:206,723,050...206,742,783
Ensembl chr 2:204,038,114...204,057,958

G

vimentin

RGD

NCBI chr17:81,577,261...81,585,746
Ensembl chr17:76,668,647...76,677,187

G

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

GAD

NCBI chr 3:173,078,904...173,101,508
Ensembl chr 3:152,659,651...152,682,105

Systemic Lupus Erythematosus 16

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

deoxyribonuclease 1L3

ClinVar Annotator: match by term: DNASE1L3-related condition | ClinVar Annotator: match by term: Systemic lupus erythematosus 16

PMID:21692081 PMID:22019780 PMID:24206041 PMID:25741868 PMID:27821515 More...

NCBI chr15:19,351,683...19,378,536
Ensembl chr15:16,922,335...16,948,317

Systemic Lupus Erythematosus 17

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

toll-like receptor 7

ClinVar Annotator: match by term: Systemic lupus erythematosus 17

PMID:28492532 PMID:35477763

NCBI chr X:30,644,324...30,670,796
Ensembl chr X:27,027,425...27,054,754

systemic scleroderma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiotensin I converting enzyme

protein:decreased expression:plasma

GAD
RGD

PMID:15118671 PMID:17360781

RGD:1331525, RGD:8548889

NCBI chr10:91,410,129...91,430,246
Ensembl chr10:90,910,316...90,931,131

G

actin alpha 2, smooth muscle

CTD Direct Evidence: marker/mechanism

NCBI chr 1:241,159,723...241,172,503
Ensembl chr 1:231,746,548...231,759,554

G

ADAM metallopeptidase with thrombospondin type 1 motif, 13

protein:decreased expression:plasma (human)

RGD

NCBI chr 3:10,299,264...10,338,464
Ensembl chr 3:10,300,028...10,346,687

G

advanced glycosylation end product-specific receptor

protein:increased expression:serum

RGD

PMID:18825489 PMID:18825489

RGD:8695973, RGD:8695973

NCBI chr20:4,152,758...4,155,956
Ensembl chr20:4,147,890...4,151,078

G

angiotensinogen

protein:decreased expression:plasma

RGD

NCBI chr19:69,426,540...69,447,017
Ensembl chr19:52,529,185...52,540,977

G

annexin A5

severity

RGD

NCBI chr 2:121,242,133...121,272,935
Ensembl chr 2:119,314,007...119,353,369

G

actin related protein 2/3 complex, subunit 2

protein:increased expression:saliva (human)

RGD

NCBI chr 9:83,269,884...83,300,610
Ensembl chr 9:75,820,770...75,851,471

G

B-cell scaffold protein with ankyrin repeats 1

susceptibility

DNA:SNPs: :rs10516487,rs17266594(human)

RGD

NCBI chr 2:227,203,998...227,474,008
Ensembl chr 2:224,530,475...224,800,405

G

brain-derived neurotrophic factor

protein:decreased expression:serum:

RGD

NCBI chr 3:116,619,633...116,670,212
Ensembl chr 3:96,165,042...96,215,615

G

complement C3

protein:increased expression:plasma

RGD

NCBI chr 9:2,174,412...2,201,339
Ensembl chr 9:2,087,437...2,114,429

G

caveolin 1

susceptibility

DNA:SNPs:enhancer, intron: (rs7795356, rs926198, rs959173) (human)
protein:decreased expression:lung, skin

RGD

PMID:22402147 PMID:18759267

RGD:8661768, RGD:8661773

NCBI chr 4:46,606,538...46,639,616
Ensembl chr 4:45,634,918...45,673,705

G

C-C motif chemokine ligand 2

severity

protein:increased expression:respiratory system fluid/secretion
protein:increased expression:serum

RGD

PMID:19615053 PMID:21049277 PMID:21285114

RGD:4891453, RGD:5135284, RGD:5683876

NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,005,424...67,007,226

G

C-C motif chemokine ligand 20

mRNA:increased expression:skin

RGD

NCBI chr 9:91,837,139...91,839,736
Ensembl chr 9:84,388,904...84,391,629

G

C-C motif chemokine ligand 3

protein:increased expression:serum

RGD

NCBI chr10:68,948,889...68,950,439
Ensembl chr10:68,451,388...68,452,938

G

C-C motif chemokine ligand 4

protein:increased expression:serum

RGD

NCBI chr10:68,963,893...68,965,728
Ensembl chr10:68,452,052...68,468,231

G

cellular communication network factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:237,222,730...237,225,689
Ensembl chr 2:234,562,408...234,565,484

G

cellular communication network factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:22,621,498...22,624,614
Ensembl chr 1:20,802,199...20,805,734

G

C-C motif chemokine receptor 2

RGD

NCBI chr 8:132,611,883...132,619,106
Ensembl chr 8:123,734,430...123,742,100

G

C-C motif chemokine receptor 6

mRNA:increased expression:skin

RGD

NCBI chr 1:55,022,037...55,055,857
Ensembl chr 1:52,474,168...52,498,603

G

Cd247 molecule

CTD Direct Evidence: marker/mechanism

NCBI chr13:80,576,264...80,651,422
Ensembl chr13:78,043,307...78,122,263

G

CD86 molecule

DNA:snp:5' utr:g.-3479T>G (human)

RGD

NCBI chr11:77,647,565...77,706,178
Ensembl chr11:64,163,828...64,200,818

G

complement factor B

protein:increased expression:plasma

RGD

NCBI chr20:3,975,271...3,981,138
Ensembl chr20:3,951,474...3,976,505

G

chitinase 3 like 1

protein:increased secretion:serum (human)

RGD

NCBI chr13:48,193,839...48,201,822
Ensembl chr13:45,641,802...45,649,787

G

clusterin

protein:increased expression:serum

RGD

NCBI chr15:44,336,619...44,375,861
Ensembl chr15:40,174,617...40,200,315

G

cannabinoid receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:53,204,867...53,230,396
Ensembl chr 5:48,408,574...48,435,099

G

cannabinoid receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 5:153,408,968...153,435,092
Ensembl chr 5:148,125,604...148,151,548

G

collagen type I alpha 1 chain

RGD

NCBI chr10:80,380,458...80,397,461
Ensembl chr10:79,883,622...79,900,624

G

collagen type I alpha 2 chain

CTD Direct Evidence: marker/mechanism

NCBI chr 4:33,518,557...33,553,484
Ensembl chr 4:32,563,381...32,598,867

G

collagen type III alpha 1 chain

OMIM:181750

NCBI chr 9:54,866,646...54,902,578
Ensembl chr 9:47,374,593...47,410,547

G

ceruloplasmin

protein:increased expression:serum

RGD

NCBI chr 2:104,368,336...104,427,119
Ensembl chr 2:102,439,624...102,498,075

G

colony stimulating factor 1

mRNA:increased expression:skin

RGD

NCBI chr 2:198,065,400...198,084,774
Ensembl chr 2:195,377,215...195,411,704

G

C-X3-C motif chemokine ligand 1

protein:increased expression:serum

RGD

NCBI chr19:10,233,326...10,244,856
Ensembl chr19:10,227,340...10,236,833

G

C-X3-C motif chemokine receptor 1

protein:increased expression:lung, skin
DNA:polymorphisms: :p.V249I, p.T280M (human)

RGD

PMID:15608300 PMID:23142052 PMID:16584113

RGD:4891898, RGD:9479741, RGD:4891896

NCBI chr 8:128,661,294...128,679,048
Ensembl chr 8:119,782,595...119,800,014

G

C-X-C motif chemokine ligand 10

protein:increased expression:serum

RGD

PMID:21303517 PMID:21049277

RGD:5135279, RGD:5135284

NCBI chr14:15,989,066...15,991,263
Ensembl chr14:15,704,758...15,706,975

G

C-X-C motif chemokine ligand 16

protein:increased expression:serum, skin, endothelial cell

RGD

NCBI chr10:55,665,355...55,669,950
Ensembl chr10:55,166,723...55,171,592

G

C-X-C motif chemokine ligand 9

protein:increased expression:serum

RGD

PMID:21303517 PMID:21049277

RGD:5135279, RGD:5135284

NCBI chr14:16,007,166...16,012,077
Ensembl chr14:15,722,908...15,728,435

G

C-X-C motif chemokine receptor 3

protein:decreased expression:skin, endothelial cell

RGD

NCBI chr X:70,884,293...70,886,944
Ensembl chr X:66,844,318...66,846,969

G

C-X-C motif chemokine receptor 6

protein:increased expression:skin, endothelial cell

RGD

NCBI chr 8:132,311,834...132,317,001
Ensembl chr 8:123,416,325...123,439,526

G

endothelin 1

protein:increased secretion:plasma (human)

RGD

NCBI chr17:22,660,799...22,666,687
Ensembl chr17:22,454,420...22,460,885

G

elastin

RGD

NCBI chr12:27,604,983...27,648,413
Ensembl chr12:21,968,544...22,011,928

G

estrogen receptor 1

susceptibility

DNA:SNP:intron:

RGD

NCBI chr 1:43,511,685...43,904,454
Ensembl chr 1:41,210,475...41,495,002

G

estrogen receptor 2

no_association

DNA:SNP:exon:

RGD

NCBI chr 6:100,589,553...100,645,240
Ensembl chr 6:94,809,547...94,908,919

G

F11 receptor

RGD

NCBI chr13:86,406,229...86,429,819
Ensembl chr13:83,873,797...83,897,402

G

coagulation factor II, thrombin

protein:increased expression:plasma:

RGD

NCBI chr 3:98,051,958...98,065,246
Ensembl chr 3:77,596,198...77,609,486

G

fibrillin 1

susceptibility

OMIM:181750
DNA:insertion:5' utr

PMID:11123012 PMID:10395706 PMID:12384286

RGD:7387265, RGD:12910471, RGD:12904889

NCBI chr 3:133,007,693...133,204,277
Ensembl chr 3:112,554,925...112,750,889

G

Fli-1 proto-oncogene, ETS transcription factor

OMIM:181750

NCBI chr 8:30,831,422...30,950,468
Ensembl chr 8:30,832,753...30,950,433

G

Fms related receptor tyrosine kinase 4

protein:increased expression:skin:

RGD

NCBI chr10:34,414,834...34,455,878
Ensembl chr10:33,913,608...33,954,770

G

FOS like 2, AP-1 transcription factor subunit

OMIM:181750

NCBI chr 6:30,017,952...30,039,269
Ensembl chr 6:24,300,956...24,320,034

G

follistatin-like 1

CTD Direct Evidence: marker/mechanism

NCBI chr11:76,400,870...76,454,053
Ensembl chr11:62,779,783...62,948,677

G

glutathione peroxidase 3

protein:decreased expression:serum

RGD

NCBI chr10:39,529,335...39,537,406
Ensembl chr10:39,028,570...39,037,035

G

glutathione S-transferase mu 1

susceptibility

DNA:missense mutation:cds:p.K173N (human)

RGD

NCBI chr 2:198,338,005...198,346,007
Ensembl chr 2:195,649,845...195,655,411

G

histone deacetylase 5

CTD Direct Evidence: marker/mechanism

NCBI chr10:87,653,139...87,688,078
Ensembl chr10:87,152,978...87,188,235

G

hepatocyte growth factor

treatment
severity

protein:increased expression:serum:
mRNA:increased expression:skin:

RGD

PMID:17049072 PMID:24387171 PMID:22286923

RGD:8548624, RGD:8548659, RGD:8548651

NCBI chr 4:19,628,902...19,700,467
Ensembl chr 4:18,677,101...18,745,409

G

high mobility group box 1

protein:increased expression:serum

RGD

NCBI chr12:11,009,236...11,015,941
Ensembl chr12:5,901,586...5,978,565
Ensembl chr16:5,901,586...5,978,565

G

heterogeneous nuclear ribonucleoprotein L

RGD

NCBI chr 1:93,226,373...93,239,084
Ensembl chr 1:84,100,879...84,111,553

G

intercellular adhesion molecule 1

disease_progression

protein:increased expression:blood

RGD

PMID:18759276 PMID:8099861 PMID:1371389

RGD:8158120, RGD:8547587, RGD:8547576

NCBI chr 8:27,829,688...27,841,618
Ensembl chr 8:19,553,645...19,565,438

G

interferon gamma

treatment

RGD

NCBI chr 7:55,789,180...55,793,216
Ensembl chr 7:53,903,337...53,907,375

G

insulin-like growth factor binding protein 3

protein:increased expression:serum:

RGD

NCBI chr14:86,270,208...86,277,944
Ensembl chr14:82,056,347...82,064,083

G

interleukin 13

no_association

mRNA, protein:increased expression:skin
DNA:SNPs:promoter, cds:-1112C>T, p.R130Q (rs1800925, rs20541) (human)
protein:increased expression:serum

RGD

PMID:15564778 PMID:22045834 PMID:9034992

RGD:5684370, RGD:8549502, RGD:5684371

NCBI chr10:38,290,926...38,293,483
Ensembl chr10:37,790,130...37,792,737

G

interleukin 13 receptor subunit alpha 1

no_association

DNA:SNP:intron:43163G>A (rs6646259) (human)

RGD

NCBI chr X:120,213,670...120,294,777
Ensembl chr X:115,348,860...115,408,681
Ensembl chr11:115,348,860...115,408,681

G

interleukin 17A

protein:increased expression:epidermis, endodermis, mast cell (human)

RGD

PMID:22833167 PMID:23335253

RGD:8696037, RGD:8696038

NCBI chr 9:30,640,844...30,644,331
Ensembl chr 9:23,144,402...23,147,889

G

interleukin 1 beta

susceptibility

DNA:polymorphisms:promoter:-31T>C,-511C>T (human)

RGD

NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:116,577,010...116,583,415

G

interleukin 1 receptor type 1

RGD

NCBI chr 9:50,000,558...50,076,579
Ensembl chr 9:42,504,735...42,579,937

G

interleukin 2

protein:increased expression:serum:

RGD

NCBI chr 2:121,932,968...121,937,672
Ensembl chr 2:120,004,862...120,009,566

G

interleukin 23 receptor

no_association

DNA:SNPs: :rs11209026, rs11465804 (human)
DNA:SNPs: :rs11209032,rs1495965(human)

RGD

PMID:19918037 PMID:18713787

RGD:5096624, RGD:8549603

NCBI chr 4:97,910,230...98,003,759
Ensembl chr 4:96,580,714...96,674,021

G

interleukin 27

protein:increased expression:serum

RGD

NCBI chr 1:190,603,684...190,609,292
Ensembl chr 1:181,173,372...181,178,582

G

interleukin 27 receptor subunit alpha

mRNA:increased expression:skin

RGD

NCBI chr19:41,014,730...41,026,740
Ensembl chr19:24,109,972...24,121,938

G

interleukin 4

protein:increased expression:serum
mRNA, protein:increased expression, splice variant:blood, mononuclear cell, plasma

RGD

PMID:9034992 PMID:10473513

RGD:5684371, RGD:7829819

NCBI chr10:38,272,003...38,277,549
Ensembl chr10:37,771,203...37,776,750

G

interleukin 6

treatment

RGD

NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,213,394...5,219,178

G

interferon regulatory factor 5

CTD Direct Evidence: marker/mechanism

NCBI chr 4:59,092,914...59,104,596
Ensembl chr 4:58,127,640...58,139,267

G

junctional adhesion molecule 3

protein:increased expression:skin
protein:decreased expression:skin, endothelial cell

RGD

PMID:23001478 PMID:19439502

RGD:7488920, RGD:7488937

NCBI chr 8:33,767,606...33,828,451
Ensembl chr 8:25,507,057...25,569,355

G

kinase insert domain receptor

protein:decreased expression:bone marrow:
protein:increased expression:skin:

RGD

PMID:22271757 PMID:21865112

RGD:8551843, RGD:8552335

NCBI chr14:32,572,031...32,615,204
Ensembl chr14:32,217,871...32,261,018

G

lymphotoxin alpha

susceptibility

DNA:SNP:intron:252A>G (human)

RGD

NCBI chr20:3,622,291...3,625,852
Ensembl chr20:3,618,853...3,620,859

G

matrix metallopeptidase 1

severity

mRNA:decreased expression:skin
protein:increased expression:serum

RGD

PMID:22286923 PMID:12051403

RGD:8548651, RGD:8693663

NCBI chr 8:12,943,453...12,963,966
Ensembl chr 8:4,658,588...4,679,097

G

matrix metallopeptidase 3

severity

protein:increased expression:serum

RGD

PMID:12051403 PMID:15498049

RGD:8693663, RGD:8693674

NCBI chr 8:12,925,267...12,938,828
Ensembl chr 8:4,640,416...4,653,961

G

matrix metallopeptidase 9

RGD

NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:153,683,858...153,692,120

G

mucin 1, cell surface associated

protein:increased expression:serum

RGD

NCBI chr 2:176,933,312...176,938,497
Ensembl chr 2:174,635,995...174,640,733

G

N-acetyltransferase 2

susceptibility

DNA:polymorphism: :

RGD

NCBI chr16:26,974,874...27,005,191
Ensembl chr16:22,208,194...22,238,520

G

nectin cell adhesion molecule 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:88,500,086...88,535,474
Ensembl chr 1:79,372,119...79,407,360

G

nerve growth factor

protein:increased expression:serum

RGD

NCBI chr 2:192,589,580...192,642,971
Ensembl chr 2:189,901,058...189,954,452

G

notch receptor 4

DNA: SNPs: non-coding :multiple

RGD

NCBI chr20:4,164,969...4,189,072
Ensembl chr20:4,160,445...4,184,465

G

platelet and endothelial cell adhesion molecule 1

protein:decreased expression:superficial vasculature (human)

RGD

NCBI chr10:92,090,263...92,152,002
Ensembl chr10:91,590,521...91,652,116

G

platelet factor 4

severity

RGD

NCBI chr14:17,582,477...17,583,392
Ensembl chr14:17,298,308...17,299,365

G

prostaglandin-endoperoxide synthase 2

RGD

NCBI chr13:64,714,063...64,722,320
Ensembl chr13:62,163,932...62,172,188

G

protein tyrosine phosphatase, non-receptor type 22

no_association

DNA: snp: cds: rs2476601
DNA:missense mutation:cds:p.R620W (rs2476601) (human)

RGD

PMID:21131644 PMID:16464986

RGD:6484551, RGD:7829741

NCBI chr 2:194,055,165...194,103,209
Ensembl chr 2:191,366,808...191,414,779

G

retinol binding protein 4

disease_progression

associated with Raynaud disease and interstitial lung disease; protein:decreased expression:blood serum (human)

RGD

NCBI chr 1:245,306,349...245,313,551
Ensembl chr 1:235,893,917...235,901,399

G

ras homolog family member B

CTD Direct Evidence: marker/mechanism

NCBI chr 6:37,083,030...37,085,204
Ensembl chr 6:31,363,548...31,366,108

G

RT1 class II, locus Ba

susceptibility

DNA:polymorphism::HLA-DQA1*0501;

RGD

NCBI chr20:4,577,057...4,581,650
Ensembl chr20:4,575,134...4,579,744

G

RT1 class II, locus Bb

CTD Direct Evidence: marker/mechanism

NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,596,559...4,607,597

G

sphingosine-1-phosphate receptor 5

CTD Direct Evidence: marker/mechanism

NCBI chr 8:28,062,841...28,068,013
Ensembl chr 8:19,786,663...19,791,795

G

selenoprotein P

protein:decreased expression:serum

RGD

NCBI chr 2:54,225,736...54,236,022
Ensembl chr 2:52,498,339...52,508,852

G

serpin family E member 1

protein:increased expression:dermis,microvessel:

RGD

NCBI chr12:25,237,977...25,248,356
Ensembl chr12:19,601,272...19,611,657

G

serpin family F member 2

protein:increased expression:plasma

RGD

NCBI chr10:60,770,698...60,778,782
Ensembl chr10:60,272,400...60,281,243

G

sirtuin 1

CTD Direct Evidence: therapeutic

NCBI chr20:25,305,953...25,328,000
Ensembl chr20:25,306,917...25,329,260

G

sirtuin 7

CTD Direct Evidence: marker/mechanism

NCBI chr10:106,394,802...106,401,627
Ensembl chr10:105,896,476...105,903,172

G

solute carrier family 11 member 1

DNA:repeat, polymorphism:promoter, intron: (human)

RGD

NCBI chr 9:83,406,327...83,417,252
Ensembl chr 9:75,957,316...75,968,101

G

signal transducer and activator of transcription 4

susceptibility

DNA:SNP:intron: (rs7574865) (human)
CTD Direct Evidence: marker/mechanism
DNA:SNP:intron: (rs11889341) (human)

CTD
RGD

PMID:20383147 PMID:19644887 PMID:19950257

RGD:8661700, RGD:8661711

NCBI chr 9:56,964,617...57,080,523
Ensembl chr 9:49,419,340...49,588,540

G

transforming growth factor, beta receptor 1

OMIM:181750

NCBI chr 5:66,449,348...66,506,371
Ensembl chr 5:61,653,233...61,710,777

G

TNFAIP3 interacting protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:39,537,759...39,585,038
Ensembl chr10:39,037,058...39,077,625

G

vascular endothelial growth factor A

protein:increased expression:skin
protein:increased expression:bone marrow:
protein:increased expression:serum:
mRNA,protein:increased expression:skin:

RGD

PMID:16426919 PMID:22271757 PMID:24387171 PMID:21636803

RGD:5684416, RGD:8551843, RGD:8548659, RGD:7421579

NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:14,955,300...14,970,641

G

von Willebrand factor

severity

RGD

NCBI chr 4:160,042,900...160,177,757
Ensembl chr 4:158,360,152...158,491,539

Temporomandibular Joint Osteoarthritis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

activating transcription factor 6

mRNA,protein:increased expression:chondrocyte

RGD

NCBI chr13:85,460,312...85,639,959
Ensembl chr13:82,930,034...83,107,177

G

beclin 1

RGD

NCBI chr10:86,731,649...86,747,002
Ensembl chr10:86,231,388...86,246,742

G

caspase 12

mRNA,protein:increased expression:chondrocyte

RGD

NCBI chr 8:10,927,188...10,954,442
Ensembl chr 8:2,642,434...2,674,037

G

DNA-damage inducible transcript 3

mRNA,protein:increased expression:chondrocyte

RGD

NCBI chr 7:65,001,695...65,006,517
Ensembl chr 7:63,116,380...63,121,201

G

delta like canonical Notch ligand 4

disease_progression

RGD

NCBI chr 3:126,770,945...126,780,769
Ensembl chr 3:106,316,986...106,326,931

G

eukaryotic translation initiation factor 2 alpha kinase 3

mRNA,protein:increased expression:chondrocyte

RGD

NCBI chr 4:104,363,838...104,425,271
Ensembl chr 4:102,805,510...102,866,911

G

endoplasmic reticulum to nucleus signaling 1

RGD

NCBI chr10:91,826,663...91,920,976
Ensembl chr10:91,330,654...91,421,029

G

Fas cell surface death receptor

mRNA:increased expression:mandibular condyle, cartilage (rat)

RGD

NCBI chr 1:241,212,155...241,245,774
Ensembl chr 1:231,798,960...231,832,591

G

heat shock protein family A (Hsp70) member 5

mRNA,protein:increased expression:chondrocyte

RGD

NCBI chr 3:38,453,016...38,457,475
Ensembl chr 3:18,055,405...18,059,891

G

microtubule-associated protein 1 light chain 3 beta

RGD

NCBI chr19:66,571,631...66,582,270
Ensembl chr19:49,665,791...49,677,690
Ensembl chr16:49,665,791...49,677,690

G

ribosomal protein S6

RGD

NCBI chr 5:106,417,680...106,420,540
Ensembl chr 5:101,371,136...101,374,602
Ensembl chr 5:101,371,136...101,374,602

vitiligo

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BTB domain and CNC homolog 2

CTD Direct Evidence: marker/mechanism

NCBI chr 5:51,428,802...51,779,030
Ensembl chr 5:46,638,317...46,977,877

G

complement C3

RGD

NCBI chr 9:2,174,412...2,201,339
Ensembl chr 9:2,087,437...2,114,429

G

complement C4A

associated with Graves Disease

RGD

NCBI chr20:4,010,306...4,024,707
Ensembl chr20:4,005,731...4,020,080

G

caspase 7

CTD Direct Evidence: marker/mechanism

NCBI chr 1:265,442,647...265,481,938
Ensembl chr 1:255,437,172...255,476,729

G

catalase

susceptibility
no_association

DNA:SNP,haplotype:promoter,cds:-89A>T,389C>T(human)
protein:decreased activity:skin:
DNA:SNPs:promoter,exon: -89A>T rs7943316), 389C>T (rs769217)(human)

RGD

PMID:20613769 PMID:19439879 PMID:23868633

RGD:9479149, RGD:9479169, RGD:9479150

NCBI chr 3:110,297,340...110,329,526
Ensembl chr 3:89,842,399...89,874,478

G

C-C motif chemokine receptor 6

CTD Direct Evidence: marker/mechanism

NCBI chr 1:55,022,037...55,055,857
Ensembl chr 1:52,474,168...52,498,603

G

CD44 molecule

CTD Direct Evidence: marker/mechanism

NCBI chr 3:109,610,824...109,699,776
Ensembl chr 3:89,157,058...89,244,620

G

Cd80 molecule

CTD Direct Evidence: marker/mechanism

NCBI chr11:75,760,073...75,798,978
Ensembl chr11:62,254,624...62,292,030

G

cytokine-dependent hematopoietic cell linker

CTD Direct Evidence: marker/mechanism

NCBI chr14:76,136,446...76,315,364
Ensembl chr14:71,873,105...72,101,208

G

clusterin

RGD

NCBI chr15:44,336,619...44,375,861
Ensembl chr15:40,174,617...40,200,315

G

catechol-O-methyltransferase

no_association

DNA:polymorphism: :p.V158M (human)

RGD

PMID:19112571 PMID:24915010

RGD:8662333, RGD:8662336

NCBI chr11:96,072,371...96,091,956
Ensembl chr11:82,568,025...82,587,642

G

cytotoxic T-lymphocyte-associated protein 4

susceptibility
no_association

associated with Autoimmune Diseases;DNA:polymorphisms: :
DNA:SNP:exon:+49A>G rs231775)(human)
DNA:SNPs:multiple:
DNA:SNP:3'UTR:rs3087243(human)

RGD

PMID:15649153 PMID:19129082 PMID:18200060 PMID:21794098

RGD:7411687, RGD:7411699, RGD:7411697, RGD:7411696

NCBI chr 9:69,812,859...69,819,959
Ensembl chr 9:62,319,312...62,324,963

G

estrogen receptor 1

susceptibility
no_association

DNA:SNP:intron
DNA:SNP:exon

RGD

PMID:15381239 PMID:15381239

RGD:8552976, RGD:8552976

NCBI chr 1:43,511,685...43,904,454
Ensembl chr 1:41,210,475...41,495,002

G

forkhead box D3

susceptibility

ClinVar Annotator: match by term: Autoimmune disease, susceptibility to, 1

NCBI chr 5:114,335,084...114,337,450
Ensembl chr 5:114,335,408...114,336,817

G

forkhead box P1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:133,117,346...133,808,647
Ensembl chr 4:131,564,756...132,112,258

G

hepatocyte growth factor

treatment

RGD

NCBI chr 4:19,628,902...19,700,467
Ensembl chr 4:18,677,101...18,745,409

G

heat shock protein family A (Hsp70) member 1A

treatment

RGD

NCBI chr20:3,875,411...3,877,866
Ensembl chr20:3,856,006...3,873,227

G

interferon induced with helicase C domain 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:67,635,924...67,683,968
Ensembl chr 3:47,227,364...47,275,456

G

interferon gamma

susceptibility
onset

DNA:repeats:intron:rs3138557(human)
DNA:polymorphism:intron:rs2430561(human)

RGD

PMID:23777204 PMID:23777204

RGD:8157616, RGD:8157616

NCBI chr 7:55,789,180...55,793,216
Ensembl chr 7:53,903,337...53,907,375

G

IKAROS family zinc finger 4

CTD Direct Evidence: marker/mechanism

NCBI chr 7:1,063,283...1,102,940
Ensembl chr 7:1,056,890...1,084,341

G

interleukin 13

treatment

RGD

NCBI chr10:38,290,926...38,293,483
Ensembl chr10:37,790,130...37,792,737

G

interleukin 17A

protein:increased expression:serum:

RGD

NCBI chr 9:30,640,844...30,644,331
Ensembl chr 9:23,144,402...23,147,889

G

interleukin 1 alpha

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

CTD
RGD

PMID:28836394 PMID:16911396

NCBI chr 3:136,979,804...136,990,236
Ensembl chr 3:116,526,604...116,536,822

G

interleukin 2

protein:increased expression:serum:

RGD

NCBI chr 2:121,932,968...121,937,672
Ensembl chr 2:120,004,862...120,009,566

G

interleukin 4

protein:increased expression:serum:

RGD

NCBI chr10:38,272,003...38,277,549
Ensembl chr10:37,771,203...37,776,750

G

IL2-inducible T-cell kinase

ClinVar Annotator: match by term: Vitiligo-associated multiple autoimmune disease susceptibility 1

PMID:28492532 PMID:32628964 PMID:32888943

NCBI chr10:31,254,667...31,316,004
Ensembl chr10:30,753,344...30,814,685

G

kinesin family member 1B

ClinVar Annotator: match by term: Vitiligo

PMID:25741868 PMID:28492532

NCBI chr 5:164,890,778...165,025,848
Ensembl chr 5:159,561,271...159,742,778

G

mannose binding lectin 2

susceptibility
no_association

DNA:polymorphism:exon:
DNA:polymorphisms:promoter, exon:

RGD

PMID:17337399 PMID:19416237

RGD:8693723, RGD:8693724

NCBI chr 1:237,429,873...237,465,567

G

melanocortin 1 receptor

CTD Direct Evidence: marker/mechanism

NCBI chr19:68,360,950...68,363,877
Ensembl chr19:51,453,239...51,454,192

G

NFE2 like bZIP transcription factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 3:81,001,529...81,031,165
Ensembl chr 3:60,594,242...60,621,737

G

NLR family, pyrin domain containing 1A

ClinVar Annotator: match by term: Vitiligo-associated multiple autoimmune disease susceptibility 1

PMID:17377159 PMID:25741868 PMID:27662089 PMID:28492532

NCBI chr10:56,277,134...56,332,229
Ensembl chr10:55,778,560...55,825,180

G

phosphoinositide-3-kinase regulatory subunit 1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:34,612,946...34,697,660
Ensembl chr 2:32,882,032...32,963,631

G

proteasome 20S subunit beta 9

RGD

NCBI chr20:4,668,952...4,674,421
Ensembl chr20:4,666,046...4,672,512

G

protein tyrosine phosphatase, non-receptor type 22

DNA: snp : cds: rs2476601
DNA:polymorphism: :1858C>T (p.R620W) (human)

RGD

PMID:16015369 PMID:18426414

RGD:6484552, RGD:7829737

NCBI chr 2:194,055,165...194,103,209
Ensembl chr 2:191,366,808...191,414,779

G

RT1 class II, locus Ba

susceptibility

DNA:polymorphisms:: HLA-DQA1*0302, HLA-DQA1*0601, HLA-DQA1*0501;

RGD

NCBI chr20:4,577,057...4,581,650
Ensembl chr20:4,575,134...4,579,744

G

RT1 class II, locus Bb

susceptibility

DNA:polymorphisms (human)
DNA:polymorphism:HLA-DQB1*0201(human)

RGD

PMID:16420246 PMID:9653015

RGD:5147644, RGD:36174006

NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,596,559...4,607,597

G

RT1 class II, locus Db1

susceptibility

DNA:polymorphisms (human)
DNA:polymorphism: : HLA-DRB1*0701(human)

RGD

PMID:16420246 PMID:9653015

RGD:5147644, RGD:36174006

NCBI chr20:4,550,594...4,560,182
Ensembl chr20:4,548,666...4,558,258

G

SH2B adaptor protein 3

CTD Direct Evidence: marker/mechanism

NCBI chr12:40,391,755...40,414,336
Ensembl chr12:34,731,911...34,753,616

G

src-like adaptor

CTD Direct Evidence: marker/mechanism

NCBI chr 7:100,423,467...100,473,840
Ensembl chr 7:98,535,368...98,584,648

G

superoxide dismutase 2

disease_progression

DNA, mRNA, protein:SNPs, increased expression:cds:p.L84F (rs11575993), p.T58I (rs35289490), skin, leukocyte (human)

RGD

NCBI chr 1:50,043,323...50,050,168
Ensembl chr 1:47,636,528...47,645,189

G

transforming growth factor, beta 1

protein:decreased expression:serum:

RGD

NCBI chr 1:90,324,312...90,340,627
Ensembl chr 1:81,196,532...81,212,847

G

toll-like receptor 2

susceptibility

DNA:polymorphism:exon:p.R753Q(human)

RGD

NCBI chr 2:171,499,189...171,504,831
Ensembl chr 2:169,197,419...169,206,630

G

toll-like receptor 4

susceptibility

DNA:polymorphism:exon:p.D299G(human)

RGD

NCBI chr 5:85,161,247...85,174,882
Ensembl chr 5:80,145,826...80,159,628

G

tumor necrosis factor

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

CTD
RGD

PMID:28836394 PMID:16911396

NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629

G

transducer of ERBB2, 2

CTD Direct Evidence: marker/mechanism

NCBI chr 7:115,242,843...115,251,563
Ensembl chr 7:113,361,148...113,372,688

G

tyrosinase

severity

RGD

PMID:22834951 PMID:8697641

RGD:8694387, RGD:8694409

NCBI chr 1:150,527,687...150,622,857
Ensembl chr 1:141,115,036...141,210,207

G

vitamin D receptor

no_association

DNA:SNPs, haplotype: :multiple
DNA:SNP:exon:rs2228570 (human)
DNA:SNPs: :rs731236, rs1544410, rs7975232 (human)

RGD

PMID:22738935 PMID:22762534 PMID:22762534

RGD:8158061, RGD:8158066, RGD:8158066

NCBI chr 7:130,864,764...130,916,757
Ensembl chr 7:128,987,981...129,037,677

Vogt-Koyanagi-Harada disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

interferon gamma

associated with uveitis;protein:increased expression:aqueous humor:

RGD

NCBI chr 7:55,789,180...55,793,216
Ensembl chr 7:53,903,337...53,907,375

G

integrin subunit beta 2

protein:decreased expression:T cell

RGD

NCBI chr20:11,061,009...11,097,242
Ensembl chr20:11,061,430...11,097,600

G

RT1 class II, locus Ba

susceptibility

DNA:polymorphism: : HLA-DQA1*0301

RGD

NCBI chr20:4,577,057...4,581,650
Ensembl chr20:4,575,134...4,579,744

G

RT1 class II, locus Bb

susceptibility

DNA:polymorphisms:cds:multiple (human)
DNA:snps:promoter:g.-227G>A, g.-189C>A (human)

RGD

PMID:17605936 PMID:19176112

RGD:7421525, RGD:7421581

NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,596,559...4,607,597

G

RT1 class II, locus Db1

susceptibility

DNA:polymorphism (human)
DNA:polymorphism: :HLA-DRB1*0405(human)
DNA:polymorphisms: :HLA-DRB1*0405, HLA-DRB1*0410(human)
DNA:polymorphisms (human)

RGD

PMID:15603876 PMID:9548078 PMID:20216938 PMID:10527396

RGD:5147653, RGD:7365099, RGD:7365067, RGD:5147857

NCBI chr20:4,550,594...4,560,182
Ensembl chr20:4,548,666...4,558,258

G

signal transducer and activator of transcription 4

DNA:SNP: :rs7574865 (human)

RGD

NCBI chr 9:56,964,617...57,080,523
Ensembl chr 9:49,419,340...49,588,540

G

tumor necrosis factor

associated with uveitis;protein:increased expression:aqueous humor:

RGD

NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629

Term paths to the root

Path 1
Term	Annotations
disease	19139
disease of anatomical entity	18451
musculoskeletal system disease	8462
autoimmune disease of musculoskeletal system	1002
Lambert-Eaton myasthenic syndrome	3
ankylosing spondylitis +	37
autoimmune disease of skin and connective tissue +	193
lupus erythematosus +	217
mixed connective tissue disease	8
myasthenia gravis +	34
polymyositis +	43
reactive arthritis	5
relapsing polychondritis +	2
rheumatic disease +	788
rheumatoid arthritis interstitial lung disease	0
Path 2
Term	Annotations
disease	19139
disease of anatomical entity	18451
Immune & Inflammatory Diseases	5751
immune system disease	5071
primary immunodeficiency disease	4479
autoimmune disease	2377
autoimmune disease of musculoskeletal system	1002
Lambert-Eaton myasthenic syndrome	3
ankylosing spondylitis +	37
autoimmune disease of skin and connective tissue +	193
lupus erythematosus +	217
mixed connective tissue disease	8
myasthenia gravis +	34
polymyositis +	43
reactive arthritis	5
relapsing polychondritis +	2
rheumatic disease +	788
rheumatoid arthritis interstitial lung disease	0

paths to the root