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RGD DISEASE ONTOLOGY - ANNOTATIONS

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

Term:lupus erythematosus
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Accession:DOID:8857 term browser browse the term
Definition:An autoimmune disease that is characterized by a constellation of findings that include elevated antibodies to nuclear antigens, antiphospholipids, low complement levels, ulcers, non-scarring alopecia, renal or neurologic damage, and low white blood cell and platelet counts, has_symptom rashes, fatigue, arthritis, hair loss, seizures, and symptoms related to affected organs. (DO)
Synonyms:exact_synonym: lupus
 xref: ICD10CM:L93;   ICD9CM:695.4;   NCI:C27153
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
lupus erythematosus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PCD1B CD1B antigen ameliorates ISO RGD PMID:14561706 RGD:127345108 NCBI chr 4:92,035,122...92,040,724
Ensembl chr 4:92,031,712...92,040,742
JBrowse link
C1q Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1QA complement C1q A chain ISO ClinVar Annotator: match by term: C1Q deficiency ClinVar PMID:7594474 PMID:8840296 PMID:9225968 PMID:9590289 PMID:21654842 More... NCBI chr 6:80,586,259...80,589,213
Ensembl chr 6:80,586,280...80,589,204
JBrowse link
G C1QB complement C1q B chain ISO ClinVar Annotator: match by term: C1Q deficiency ClinVar PMID:17513176 PMID:21654842 PMID:25741868 PMID:28492532 NCBI chr 6:80,601,680...80,606,076
Ensembl chr 6:80,601,665...80,607,471
JBrowse link
G C1QC complement C1q C chain ISO ClinVar Annotator: match by term: C1Q deficiency ClinVar PMID:7029321 PMID:7900940 PMID:8630118 PMID:20635792 PMID:21654842 More... NCBI chr 6:80,592,591...80,597,464
Ensembl chr 6:80,592,473...80,597,452
JBrowse link
C1q Deficiency 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1QA complement C1q A chain ISO ClinVar Annotator: match by term: C1Q deficiency 1 | ClinVar Annotator: match by term: C1QA-related condition OMIM
ClinVar
PMID:25741868 PMID:28492532 NCBI chr 6:80,586,259...80,589,213
Ensembl chr 6:80,586,280...80,589,204
JBrowse link
C1q Deficiency 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1QB complement C1q B chain ISO ClinVar Annotator: match by term: C1Q deficiency 2 | ClinVar Annotator: match by term: C1QB-related condition OMIM
ClinVar
PMID:2894352 PMID:24160257 PMID:25741868 PMID:28492532 NCBI chr 6:80,601,680...80,606,076
Ensembl chr 6:80,601,665...80,607,471
JBrowse link
C1q Deficiency 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1QC complement C1q C chain ISO ClinVar Annotator: match by term: C1Q deficiency 3 | ClinVar Annotator: match by term: C1QC-related condition OMIM
ClinVar
PMID:7029321 PMID:8630118 PMID:24157463 PMID:28492532 NCBI chr 6:80,592,591...80,597,464
Ensembl chr 6:80,592,473...80,597,452
JBrowse link
Chilblain lupus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATRIP ATR interacting protein ISO ClinVar Annotator: match by term: Chilblain lupus ClinVar PMID:16960810 PMID:17357087 PMID:17440703 PMID:18805785 PMID:20799324 More... NCBI chr13:31,159,849...31,178,716
Ensembl chr13:31,159,843...31,178,715
JBrowse link
G TREX1 three prime repair exonuclease 1 ISO ClinVar Annotator: match by term: Chilblain lupus ClinVar PMID:16960810 PMID:17357087 PMID:17440703 PMID:18805785 PMID:20799324 More... NCBI chr13:31,177,604...31,180,764
Ensembl chr13:31,179,291...31,180,747
JBrowse link
Chilblain Lupus 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATRIP ATR interacting protein ISO ClinVar Annotator: match by term: Chilblain lupus 1 ClinVar PMID:16845398 PMID:17293595 PMID:17357087 PMID:17660818 PMID:17660820 More... NCBI chr13:31,159,849...31,178,716
Ensembl chr13:31,159,843...31,178,715
JBrowse link
G SAMHD1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27566796 NCBI chr17:40,117,348...40,171,935
Ensembl chr17:40,107,462...40,171,878
JBrowse link
G STING1 stimulator of interferon response cGAMP interactor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27566796 NCBI chr 2:141,359,402...141,367,222
Ensembl chr 2:141,358,993...141,367,198
JBrowse link
G TREX1 three prime repair exonuclease 1 ISO ClinVar Annotator: match by term: Chilblain lupus 1 ClinVar
OMIM
PMID:16845398 PMID:17293595 PMID:17357087 PMID:17660818 PMID:17660820 More... NCBI chr13:31,177,604...31,180,764
Ensembl chr13:31,179,291...31,180,747
JBrowse link
Chilblain Lupus 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SAMHD1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 ISO ClinVar Annotator: match by term: Chilblain lupus 2 | ClinVar Annotator: match by term: SAMHD1-related condition OMIM
ClinVar
PMID:19525956 PMID:20653736 PMID:21204240 PMID:21402907 PMID:22461318 More... NCBI chr17:40,117,348...40,171,935
Ensembl chr17:40,107,462...40,171,878
JBrowse link
G TLDC2 TBC/LysM-associated domain containing 2 ISO ClinVar Annotator: match by term: Chilblain lupus 2 | ClinVar Annotator: match by term: SAMHD1-related condition ClinVar PMID:25741868 PMID:28492532 NCBI chr17:40,105,500...40,118,743
Ensembl chr17:40,109,210...40,120,399
JBrowse link
cutaneous lupus erythematosus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCR2 C-C motif chemokine receptor 2 ISO RGD PMID:21844117 RGD:6892918 NCBI chr13:29,251,950...29,286,470
Ensembl chr13:29,285,012...29,286,467
JBrowse link
G CD40 CD40 molecule ISO RGD PMID:18050371 RGD:8547765 NCBI chr17:48,286,116...48,298,188
Ensembl chr17:48,286,029...48,298,528
JBrowse link
G CD40LG CD40 ligand ISO RGD PMID:18050371 RGD:8547765 NCBI chr  X:111,778,666...111,788,901
Ensembl chr  X:111,778,493...111,789,709
JBrowse link
G CSF1 colony stimulating factor 1 ISO RGD PMID:18981160 RGD:7257572 NCBI chr 4:110,178,466...110,198,232
Ensembl chr 4:110,178,475...110,197,900
JBrowse link
G IL17A interleukin 17A ISO protein:increased expression:epidermis (human) RGD PMID:20493423 RGD:8698667 NCBI chr 7:46,013,584...46,017,161
Ensembl chr 7:46,013,584...46,017,153
JBrowse link
G TREX1 three prime repair exonuclease 1 ISO MouseDO NCBI chr13:31,177,604...31,180,764
Ensembl chr13:31,179,291...31,180,747
JBrowse link
Discoid Lupus Erythematosus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANXA1 annexin A1 ISO RGD PMID:20701627 RGD:7421565 NCBI chr 1:226,414,200...226,431,963
Ensembl chr 1:226,414,306...226,432,279
JBrowse link
G CD40 CD40 molecule ISO RGD PMID:18050371 RGD:8547765 NCBI chr17:48,286,116...48,298,188
Ensembl chr17:48,286,029...48,298,528
JBrowse link
G CD40LG CD40 ligand ISO RGD PMID:18050371 RGD:8547765 NCBI chr  X:111,778,666...111,788,901
Ensembl chr  X:111,778,493...111,789,709
JBrowse link
G IL17A interleukin 17A ISO protein:increased expression:epidermis (human) RGD PMID:20493423 RGD:8698667 NCBI chr 7:46,013,584...46,017,161
Ensembl chr 7:46,013,584...46,017,153
JBrowse link
G OGG1 8-oxoguanine DNA glycosylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:33072095 NCBI chr13:66,038,669...66,045,478 JBrowse link
G TRAF3IP2 TRAF3 interacting protein 2 ISO ClinVar Annotator: match by term: Discoid lupus erythematosus ClinVar PMID:25741868 NCBI chr 1:77,483,997...77,541,557
Ensembl chr 1:77,487,577...77,541,198
JBrowse link
lupus nephritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGER advanced glycosylation end-product specific receptor ISO DNA:polymorphisms:promoter, intron:g.-429T>C rs1800625, g.-374T>A rs1800624, g.2184A>G rs3134940 (human) RGD PMID:22513366 RGD:6767309 NCBI chr 7:24,218,116...24,221,162
Ensembl chr 7:24,218,120...24,221,162
JBrowse link
G APOC3 apolipoprotein C3 ISO protein:increased expression:serum RGD PMID:17957542 RGD:7207211 NCBI chr 9:44,211,171...44,213,538
Ensembl chr 9:44,211,194...44,213,533
JBrowse link
G C3 complement C3 ISO protein:decreased expression:serum
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:21888025 PMID:31182691 RGD:7175544 NCBI chr 2:72,431,470...72,471,622
Ensembl chr 2:72,431,212...72,472,228
JBrowse link
G CCL2 chemokine (C-C motif) ligand 2 severity
susceptibility
ISO protein:increased expression:urine (human)
DNA:snp:promoter:g.-2518A>G (human)
RGD PMID:8558841 PMID:15188361 RGD:11528534 RGD:8549732 NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,026
JBrowse link
G CCL3L1 chemokine (C-C motif) ligand 3-like 1 ISO RGD PMID:18187931 RGD:7241814 NCBI chr12:39,491,999...39,493,345
Ensembl chr12:39,491,914...39,493,774
JBrowse link
G CCR1 C-C motif chemokine receptor 1 disease_progression ISO RGD PMID:15153561 RGD:5688164 NCBI chr13:29,227,218...29,233,862
Ensembl chr13:29,227,222...29,233,960
JBrowse link
G CD40 CD40 molecule treatment ISO RGD PMID:18566369 PMID:19265127 PMID:23799000 RGD:7248418 RGD:7248425 RGD:7248429 NCBI chr17:48,286,116...48,298,188
Ensembl chr17:48,286,029...48,298,528
JBrowse link
G CD40LG CD40 ligand treatment ISO protein:increased expression:serum RGD PMID:11751940 PMID:12632425 PMID:13130474 PMID:15693003 PMID:20726330 RGD:7248426 RGD:7248439 RGD:7248600 RGD:7248710 RGD:7248714 NCBI chr  X:111,778,666...111,788,901
Ensembl chr  X:111,778,493...111,789,709
JBrowse link
G CFB complement factor B ISO RGD PMID:3183062 PMID:10623824 PMID:21893562 RGD:7242736 RGD:7242755 RGD:7242763 NCBI chr 7:24,034,077...24,040,523
Ensembl chr 7:24,034,332...24,041,179
JBrowse link
G CFH complement factor H ISO RGD PMID:22171659 RGD:5684551
G CLU clusterin ISO mRNA:increased expression: epithelial cell of renal tubule RGD PMID:9546356 RGD:8890679 NCBI chr14:11,336,585...11,352,569
Ensembl chr14:11,336,595...11,349,764
JBrowse link
G COL1A1 collagen type I alpha 1 chain ISO mRNA, protein:increased expression:kidney cortex
associated with Graft vs Host Disease
RGD PMID:7700025 PMID:7723234 PMID:21354048 RGD:5688301 RGD:5688332 RGD:5688333 NCBI chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,004
JBrowse link
G CRP C-reactive protein, pentraxin-related no_association ISO DNA:SNP RGD PMID:15692982 PMID:17596285 PMID:18852001 PMID:20039408 RGD:5508454 RGD:6907400 RGD:6909145 RGD:6909146 NCBI chr 4:90,793,361...90,801,020
Ensembl chr 4:90,793,350...90,805,218
JBrowse link
G CSF1 colony stimulating factor 1 ISO RGD PMID:17659436 PMID:21885670 RGD:7257567 RGD:7257589 NCBI chr 4:110,178,466...110,198,232
Ensembl chr 4:110,178,475...110,197,900
JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 ISO RGD PMID:15146424 RGD:7204726 NCBI chr15:107,283,081...107,288,041
Ensembl chr15:107,282,927...107,289,103
JBrowse link
G EGF epidermal growth factor ISO RGD PMID:21354048 RGD:5688301 NCBI chr 8:112,235,607...112,330,062
Ensembl chr 8:112,234,386...112,330,046
JBrowse link
G FAS Fas cell surface death receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:33632240 PMID:38555047 NCBI chr14:100,927,305...100,954,781
Ensembl chr14:100,927,089...100,956,716
JBrowse link
G FCGR2B Fc fragment of IgG, low affinity IIb, receptor (CD32) ISO RGD PMID:15681388 RGD:7240529 NCBI chr 4:88,873,762...88,892,964 JBrowse link
G FCGR3A Fc fragment of IgG receptor IIIa susceptibility ISO DNA:SNP:cds:p.V158F (human) RGD PMID:17596285 RGD:5508454 NCBI chr 4:88,948,357...88,956,513 JBrowse link
G IFNG interferon gamma ISO protein:increased expression:serum,urine
CTD Direct Evidence: marker/mechanism
protein:increased processing:kidney
RGD
CTD
PMID:22764573 PMID:29925830 PMID:31182691 RGD:14974252 RGD:6893369 NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,906...32,482,670
JBrowse link
G IL17A interleukin 17A treatment ISO RGD PMID:25129462 RGD:9244623 NCBI chr 7:46,013,584...46,017,161
Ensembl chr 7:46,013,584...46,017,153
JBrowse link
G IL18 interleukin 18 ISO RGD PMID:20980973 RGD:6893449 NCBI chr 9:39,839,959...39,861,258
Ensembl chr 9:39,834,973...39,861,219
JBrowse link
G IL1RN interleukin 1 receptor antagonist resistance ISO associated with Lupus Erythematosus, Systemic; protein:increased expression:serum (human) RGD PMID:20538031 RGD:6907068
G ITGAM integrin subunit alpha M ISO RGD PMID:21719445 RGD:5147916 NCBI chr 3:17,216,719...17,272,134
Ensembl chr 3:17,204,610...17,268,018
JBrowse link
G JAK1 Janus kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31182691 NCBI chr 6:147,320,288...147,567,188
Ensembl chr 6:147,429,056...147,567,182
JBrowse link
G KLKB1 kallikrein B1 susceptibility ISO DNA:SNPs:promoter: RGD PMID:19307730 RGD:7327150 NCBI chr15:47,071,581...47,100,272
Ensembl chr15:47,071,556...47,103,622
JBrowse link
G LOC110258578 interleukin-1 beta-like ISO mRNA:increased expression:renal glomerulus (mouse) RGD PMID:20410215 PMID:21641991 RGD:7175315 RGD:7175344
G MBL2 mannose binding lectin 2 disease_progression ISO DNA:polymorphism:exon: RGD PMID:24850777 RGD:12910847 NCBI chr14:97,103,926...97,107,635
Ensembl chr14:97,102,823...97,108,083
JBrowse link
G MIR125A microRNA mir-125a ISO RNA:decreased expression:kidney RGD PMID:30972208 RGD:26884458 NCBI chr 6:58,331,566...58,331,645
Ensembl chr 6:58,331,566...58,331,645
JBrowse link
G MMP2 matrix metallopeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22479529 NCBI chr 6:30,059,247...30,087,031
Ensembl chr 6:30,058,595...30,086,982
JBrowse link
G MMP9 matrix metallopeptidase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22479529 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788
JBrowse link
G MPO myeloperoxidase susceptibility ISO DNA:polymorphism: :−463G > A (human) RGD PMID:17896805 RGD:7174701 NCBI chr12:34,557,031...34,570,091
Ensembl chr12:34,556,408...34,567,904
JBrowse link
G MTOR mechanistic target of rapamycin kinase ISO RGD PMID:17283580 RGD:7245502 NCBI chr 6:71,286,989...71,412,913
Ensembl chr 6:71,286,989...71,412,888
JBrowse link
G MUC20 mucin 20, cell surface associated ISO RGD PMID:14565953 RGD:7364790 NCBI chr13:134,254,978...134,265,950 JBrowse link
G NR3C1 nuclear receptor subfamily 3 group C member 1 ISO RGD PMID:17880936 PMID:21509671 RGD:7174713 RGD:7174734 NCBI chr 2:144,822,937...144,956,451
Ensembl chr 2:144,822,939...144,956,451
JBrowse link
G OTUB1 OTU deubiquitinase, ubiquitin aldehyde binding 1 ISO protein:increased expression:kidney RGD PMID:22279542 RGD:7175260 NCBI chr 2:8,088,528...8,095,555
Ensembl chr 2:8,087,829...8,095,609
JBrowse link
G PDCD1 programmed cell death 1 onset ISO DNA:polymorphism:intron:6867 C>T (human)
DNA:polymorphism: :
RGD PMID:15352422 PMID:15934088 PMID:21041733 RGD:7248675 RGD:7248676 RGD:7248678 NCBI chr15:140,337,353...140,347,493
Ensembl chr15:140,336,258...140,347,478
JBrowse link
G SELL selectin L ISO RGD PMID:20512127 RGD:7175284 NCBI chr 4:81,306,363...81,325,296
Ensembl chr 4:81,306,353...81,326,444
JBrowse link
G SERPING1 serpin family G member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:4014294 NCBI chr 2:13,324,160...13,338,826
Ensembl chr 2:13,324,158...13,338,663
JBrowse link
G SNRPE small nuclear ribonucleoprotein polypeptide E treatment ISO mouse model RGD PMID:15494537 RGD:10760401 NCBI chr 9:64,560,544...64,567,007
Ensembl chr 9:64,560,523...64,567,007
JBrowse link
G STAT1 signal transducer and activator of transcription 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31182691 NCBI chr15:95,593,201...95,646,324
Ensembl chr15:95,593,211...95,646,260
JBrowse link
G STAT4 signal transducer and activator of transcription 4 ISO RGD PMID:20980973 RGD:6893449 NCBI chr15:95,656,206...95,764,099
Ensembl chr15:95,656,077...95,763,472
JBrowse link
G STAT6 signal transducer and activator of transcription 6 disease_progression ISO RGD PMID:12874250 RGD:7244140 NCBI chr 5:22,406,356...22,422,412
Ensembl chr 5:22,406,368...22,421,989
JBrowse link
G TLR7 toll like receptor 7 ISO RGD PMID:19944565 RGD:7246905 NCBI chr  X:9,573,178...9,576,987 JBrowse link
G TLR9 toll like receptor 9 no_association
severity
treatment
ISO associated with Lupus Erythematosus, Systemic; DNA:snps:promoter, intron:g.-1486T>C, g.+1174A>G (rs187084, rs352139) (human, North Indian)
mRNA, protein:increased expression:kidney (mouse)
associated with Graft vs Host Disease
DNA:snps:intron, exon:g.+1174G>A, g.+1635C>T (rs352139, rs352140) (human, Chinese)
protein:increased expression:renal glomerulus (human)
RGD PMID:17469139 PMID:19578108 PMID:20497632 PMID:21127878 PMID:22787315 More... RGD:7245987 RGD:7245989 RGD:7246884 RGD:7246896 RGD:7246897 RGD:7246911 NCBI chr13:34,353,444...34,370,990
Ensembl chr13:34,349,609...34,357,673
JBrowse link
G TNF tumor necrosis factor ISO protein:increased expression:glomerular mesangial cell RGD PMID:7750940 RGD:7394786 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,415
JBrowse link
G TNFRSF11B TNF receptor superfamily member 11b ISO associated with Lupus Erythematosus, Systemic;protein:increased expression:urine RGD PMID:21691937 RGD:7205483 NCBI chr 4:19,850,212...19,879,132
Ensembl chr 4:19,850,350...19,879,125
JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A severity ISO RGD PMID:10906156 PMID:19201910 RGD:7245569 RGD:7245572 NCBI chr 5:64,319,349...64,331,876
Ensembl chr 5:64,319,051...64,331,909
JBrowse link
G TNFRSF1B TNF receptor superfamily member 1B treatment ISO RGD PMID:22674120 PMID:22846145 RGD:7245541 RGD:7245544 NCBI chr 6:72,195,420...72,231,146
Ensembl chr 6:72,195,435...72,231,147
JBrowse link
G VCAM1 vascular cell adhesion molecule 1 severity ISO protein:increased expression:urine RGD PMID:22788914 RGD:7241032 NCBI chr 4:117,496,914...117,511,211
Ensembl chr 4:117,496,920...117,511,222
JBrowse link
Lupus Vasculitis, Central Nervous System term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FCGR3A Fc fragment of IgG receptor IIIa ISO CTD Direct Evidence: marker/mechanism CTD PMID:26773105 NCBI chr 4:88,948,357...88,956,513 JBrowse link
G INA internexin neuronal intermediate filament protein alpha severity ISO RGD PMID:20559547 RGD:40886275 NCBI chr14:114,227,998...114,240,566
Ensembl chr14:114,227,993...114,240,558
JBrowse link
G ITGAM integrin subunit alpha M ISO CTD Direct Evidence: marker/mechanism CTD PMID:26773105 NCBI chr 3:17,216,719...17,272,134
Ensembl chr 3:17,204,610...17,268,018
JBrowse link
G SELP selectin P ISO RGD PMID:20179168 RGD:6478687 NCBI chr 4:81,376,804...81,401,240
Ensembl chr 4:81,365,740...81,399,955
JBrowse link
systemic lupus erythematosus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13 ISO protein:decreased expression:plasma (human) RGD PMID:12935979 RGD:10449040 NCBI chr 1:273,022,014...273,066,916
Ensembl chr 1:273,024,009...273,056,039
JBrowse link
G ADIPOQ adiponectin, C1Q and collagen domain containing ISO RGD PMID:19109165 RGD:5686827 NCBI chr13:124,633,906...124,646,237
Ensembl chr13:124,633,685...124,646,646
JBrowse link
G AGER advanced glycosylation end-product specific receptor ISO DNA:polymorphisms:promoter, intron:g.-429T>C rs1800625, g.-374T>A rs1800624, g.2184A>G rs3134940 (human) RGD PMID:22513366 RGD:6767309 NCBI chr 7:24,218,116...24,221,162
Ensembl chr 7:24,218,120...24,221,162
JBrowse link
G AGTR2 angiotensin II receptor type 2 ISO RGD PMID:21900645 RGD:6892717 NCBI chr  X:95,267,709...95,272,237
Ensembl chr  X:95,269,300...95,270,388
JBrowse link
G ANXA3 annexin A3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22446963 NCBI chr 8:73,970,314...73,993,039 JBrowse link
G APOA1 apolipoprotein A1 treatment
severity
ISO RGD PMID:20131231 PMID:20482780 RGD:7241863 RGD:7241864 NCBI chr 9:44,216,481...44,218,360
Ensembl chr 9:44,216,392...44,218,713
JBrowse link
G ATG5 autophagy related 5 ISO 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 MouseDO NCBI chr 1:72,343,950...72,520,402
Ensembl chr 1:72,270,799...72,520,396
JBrowse link
G ATG7 autophagy related 7 ISO 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 MouseDO NCBI chr13:67,301,756...67,699,141
Ensembl chr13:67,417,938...67,707,654
JBrowse link
G ATRIP ATR interacting protein ISO ClinVar Annotator: match by term: Systemic lupus erythematosus ClinVar PMID:16845398 PMID:17293595 PMID:17660818 PMID:17660820 PMID:17846997 More... NCBI chr13:31,159,849...31,178,716
Ensembl chr13:31,159,843...31,178,715
JBrowse link
G BANK1 B cell scaffold protein with ankyrin repeats 1 susceptibility ISO DNA:SNPs:introns:
ClinVar Annotator: match by term: Systemic lupus erythematosus
RGD
ClinVar
PMID:18204447 PMID:25741868 RGD:9684976 NCBI chr 8:118,814,352...119,114,973
Ensembl chr 8:118,814,061...119,157,504
JBrowse link
G BECN1 beclin 1 ISO 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 MouseDO NCBI chr12:20,041,914...20,054,249
Ensembl chr12:20,041,956...20,054,373
JBrowse link
G BLK BLK proto-oncogene, Src family tyrosine kinase ISO ClinVar Annotator: match by term: Systemic lupus erythematosus ClinVar PMID:18204098 PMID:19667185 PMID:24023612 PMID:25741868 PMID:28492532 More... NCBI chr14:14,688,489...14,745,946
Ensembl chr14:14,688,943...14,745,947
JBrowse link
G BLTP3A bridge-like lipid transfer protein family member 3A ISO CTD Direct Evidence: marker/mechanism CTD PMID:19838195 NCBI chr 7:30,731,466...30,799,958
Ensembl chr 7:30,731,461...30,802,735
JBrowse link
G C1QA complement C1q A chain ISO 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
CTD
MouseDO
PMID:8840296 NCBI chr 6:80,586,259...80,589,213
Ensembl chr 6:80,586,280...80,589,204
JBrowse link
G C2 complement C2 ISO RGD PMID:6409476 RGD:7421516 NCBI chr 7:24,020,590...24,034,042
Ensembl chr 7:24,020,290...24,034,039
JBrowse link
G C3 complement C3 severity ISO protein:increased processing RGD PMID:7510492 RGD:11040772 NCBI chr 2:72,431,470...72,471,622
Ensembl chr 2:72,431,212...72,472,228
JBrowse link
G C3AR1 complement C3a receptor 1 ISO protein:increased expression:lung, leukocyte RGD PMID:17544263 RGD:5129560 NCBI chr 5:63,088,778...63,098,750
Ensembl chr 5:63,088,778...63,098,750
JBrowse link
G C4A complement C4A (Rodgers blood group) ISO 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 RGD
MouseDO
PMID:17503323 RGD:5688260 NCBI chr 7:24,068,019...24,083,060
Ensembl chr 7:24,068,013...24,083,065
JBrowse link
G C5AR1 complement C5a receptor 1 ISO protein:increased expression:lung, leukocyte RGD PMID:17544263 RGD:5129560 NCBI chr 6:53,097,162...53,111,563
Ensembl chr 6:53,097,142...53,111,565
JBrowse link
G CA1 carbonic anhydrase 1 ISO RGD PMID:12806141 RGD:408425977 NCBI chr 4:51,343,548...51,353,127
Ensembl chr 4:51,302,406...51,353,126
JBrowse link
G CA2 carbonic anhydrase 2 ISO RGD PMID:12806141 RGD:408425977 NCBI chr 4:51,194,686...51,211,436
Ensembl chr 4:51,193,756...51,211,259
JBrowse link
G CAST calpastatin ISO RGD PMID:12367559 RGD:5683623 NCBI chr 2:103,255,738...103,378,623
Ensembl chr 2:103,255,750...103,378,623
JBrowse link
G CAT catalase ISO CTD Direct Evidence: marker/mechanism CTD PMID:27497885 NCBI chr 2:26,493,664...26,533,881
Ensembl chr 2:26,487,653...26,581,452
JBrowse link
G CCL2 chemokine (C-C motif) ligand 2 no_association
susceptibility
ISO DNA:snp:promoter:g.-2518A>G (human) RGD PMID:11844145 PMID:20414371 RGD:11528535 RGD:11528536 NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,026
JBrowse link
G CCL4 C-C motif chemokine ligand 4 disease_progression ISO protein:increased expression:serum RGD PMID:16924394 RGD:5683895 NCBI chr12:39,479,190...39,480,511
Ensembl chr12:39,478,882...39,481,082
JBrowse link
G CCR2 C-C motif chemokine receptor 2 severity ISO RGD PMID:21180278 RGD:6893428 NCBI chr13:29,251,950...29,286,470
Ensembl chr13:29,285,012...29,286,467
JBrowse link
G CCR5 C-C motif chemokine receptor 5 ISO mRNA:increased expression:blood, mononuclear cell RGD PMID:21180278 RGD:6893428 NCBI chr13:29,382,383...29,387,902
Ensembl chr13:29,383,303...29,387,895
JBrowse link
G CD226 CD226 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:26808113 NCBI chr 1:152,872,878...152,977,162
Ensembl chr 1:152,882,762...152,979,845
JBrowse link
G CD4 CD4 molecule treatment ISO RGD PMID:7914411 RGD:10058961 NCBI chr 5:63,892,129...63,918,547
Ensembl chr 5:63,892,137...63,918,519
JBrowse link
G CD40 CD40 molecule susceptibility ISO DNA:SNP: :rs4810485 (human)
DNA:SNP: :rs3765456 (human)
RGD PMID:21914625 PMID:23256180 RGD:5490522 RGD:7248721 NCBI chr17:48,286,116...48,298,188
Ensembl chr17:48,286,029...48,298,528
JBrowse link
G CD40LG CD40 ligand ISO CTD Direct Evidence: marker/mechanism
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
RGD
MouseDO
PMID:9036998 PMID:20726330 PMID:28793932 RGD:11352248 RGD:7248426 NCBI chr  X:111,778,666...111,788,901
Ensembl chr  X:111,778,493...111,789,709
JBrowse link
G CD46 CD46 molecule, complement regulatory protein severity ISO mRNA:increased expression:leukocyte (human) RGD PMID:22247341 RGD:6483457 NCBI chr 9:135,025,439...135,078,910 JBrowse link
G CD80 CD80 molecule ISO RGD PMID:20653937 RGD:6902898 NCBI chr13:140,693,312...140,730,541
Ensembl chr13:140,693,382...140,728,976
JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A ISO 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 MouseDO NCBI chr 7:32,354,776...32,363,771
Ensembl chr 7:32,354,672...32,363,761
JBrowse link
G CFB complement factor B ISO CTD Direct Evidence: marker/mechanism CTD PMID:19838195 NCBI chr 7:24,034,077...24,040,523
Ensembl chr 7:24,034,332...24,041,179
JBrowse link
G CFH complement factor H susceptibility ISO RGD PMID:21637784 RGD:5684554
G CHAF1A chromatin assembly factor 1 subunit A ISO RGD PMID:24836587 RGD:9587742 NCBI chr 2:74,380,706...74,411,875
Ensembl chr 2:74,380,709...74,411,825
JBrowse link
G CIITA class II major histocompatibility complex transactivator no_association
resistance
ISO DNA:polymorphism:promoter:rs3087456
DNA:polymorphism:promoter:rs3087456A, in a Japanese cohort A allele was protective/decreased risk of developing disease (p=0.006)
DNA:polymorphism:intron:g.485A>G
RGD PMID:15897313 PMID:17693604 PMID:17711409 RGD:5491190 RGD:5491203 RGD:5491204 NCBI chr 3:32,171,706...32,230,775
Ensembl chr 3:32,172,214...32,230,780
JBrowse link
G CLEC16A C-type lectin domain containing 16A ISO CTD Direct Evidence: marker/mechanism CTD PMID:19838195 NCBI chr 3:31,938,133...32,158,343
Ensembl chr 3:31,938,135...32,158,320
JBrowse link
G CLU clusterin ISO protein:decreased expression:serum
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:10090169 PMID:15304052 RGD:8696021 NCBI chr14:11,336,585...11,352,569
Ensembl chr14:11,336,595...11,349,764
JBrowse link
G CRP C-reactive protein, pentraxin-related no_association
treatment
disease_progression
ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:8261665 PMID:17014014 PMID:17718048 PMID:20039408 RGD:6907402 RGD:6909144 RGD:6909146 NCBI chr 4:90,793,361...90,801,020
Ensembl chr 4:90,793,350...90,805,218
JBrowse link
G CSF1 colony stimulating factor 1 ISO RGD PMID:15383612 RGD:7257578 NCBI chr 4:110,178,466...110,198,232
Ensembl chr 4:110,178,475...110,197,900
JBrowse link
G CSK C-terminal Src kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23042117 NCBI chr 7:58,736,473...58,755,034
Ensembl chr 7:58,736,531...58,755,260
JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 disease_progression ISO ClinVar Annotator: match by term: Systemic lupus erythematosus | ClinVar Annotator: match by term: Systemic lupus erythematosus, susceptibility to RGD
ClinVar
OMIM
PMID:8817351 PMID:9259273 PMID:9398726 PMID:10189842 PMID:10475192 More... RGD:7204684 NCBI chr15:107,283,081...107,288,041
Ensembl chr15:107,282,927...107,289,103
JBrowse link
G CX3CR1 C-X3-C motif chemokine receptor 1 severity ISO mRNA:increased expression:blood, mononuclear cell RGD PMID:21180278 RGD:6893428 NCBI chr13:23,944,386...23,957,567
Ensembl chr13:23,944,369...23,957,486
JBrowse link
G CXCR2 C-X-C motif chemokine receptor 2 severity ISO RGD PMID:14596426 RGD:7257684 NCBI chr15:120,219,657...120,230,203 JBrowse link
G CYBB cytochrome b-245 beta chain ISO 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 MouseDO NCBI chr  X:33,654,656...33,678,346
Ensembl chr  X:33,643,648...33,680,580
JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 susceptibility ISO DNA:SNP: :p.I462V (human)
DNA:SNP: :4887C>A (human)
DNA:polymorphism:3' utr:3801T>C (rs4646903)
RGD PMID:10599336 PMID:14611903 PMID:19561157 RGD:1581249 RGD:5147672 RGD:5147680 NCBI chr 7:58,802,887...58,809,155
Ensembl chr 7:58,802,887...58,809,775
JBrowse link
G DEF6 DEF6 guanine nucleotide exchange factor ISO 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
CTD
MouseDO
PMID:26808113 NCBI chr 7:31,191,788...31,216,436
Ensembl chr 7:31,193,858...31,216,414
JBrowse link
G DNASE1 deoxyribonuclease 1 susceptibility ISO 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
ClinVar
PMID:10835632 PMID:11479590 PMID:15333586 PMID:18486922 PMID:24206041 More... NCBI chr 3:38,590,045...38,646,852
Ensembl chr 3:38,586,602...38,646,833
JBrowse link
G DNASE1L3 deoxyribonuclease 1L3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22019780 NCBI chr13:39,958,384...39,976,114
Ensembl chr13:39,958,387...39,975,946
JBrowse link
G DNASE2 deoxyribonuclease 2, lysosomal ISO ClinVar Annotator: match by term: Systemic lupus erythematosus ClinVar NCBI chr 2:66,150,071...66,152,857
Ensembl chr 2:66,149,862...66,152,855
JBrowse link
G DNMT1 DNA methyltransferase 1 no_association ISO mRNA:decreased expression:T cell: RGD PMID:18194272 PMID:21595664 RGD:9588656 RGD:9588670 NCBI chr 2:68,981,564...69,040,364
Ensembl chr 2:68,981,566...69,029,844
JBrowse link
G ELN elastin ISO RGD PMID:12643515 RGD:9585739 NCBI chr 3:11,214,194...11,245,891
Ensembl chr 3:11,214,205...11,244,897
JBrowse link
G ENG endoglin ISO ClinVar Annotator: match by term: Systemic lupus erythematosus ClinVar PMID:9536098 PMID:17576681 PMID:28492532 PMID:32190976 NCBI chr 1:268,309,379...268,343,861
Ensembl chr 1:268,309,400...268,343,783
JBrowse link
G EP300 E1A binding protein p300 ISO 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 MouseDO NCBI chr 5:7,311,165...7,394,515
Ensembl chr 5:7,311,171...7,393,760
JBrowse link
G EPOR erythropoietin receptor ISO RGD PMID:23151030 RGD:11041604 NCBI chr 2:70,063,601...70,068,821
Ensembl chr 2:70,063,519...70,068,821
JBrowse link
G ESR2 estrogen receptor 2 susceptibility ISO mRNA:decreased expression:leukocyte,mononuclear
DNA:repeats:intron:
DNA:SNP: :rs4986938 (human)
mRNA:increased expression: :
RGD PMID:17336162 PMID:17874259 PMID:20305046 PMID:20627037 PMID:20961965 RGD:5508738 RGD:5508813 RGD:5508817 RGD:5508843 RGD:5508844 NCBI chr 1:193,823,666...193,907,330
Ensembl chr 1:193,829,560...193,906,565
JBrowse link
G ETS1 ETS proto-oncogene 1, transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19838193 NCBI chr 9:55,377,264...55,512,180
Ensembl chr 9:55,377,266...55,512,115
JBrowse link
G F2 coagulation factor II, thrombin susceptibility ISO DNA:SNP: :19911A>G (rs3136516) (human) RGD PMID:20807656 PMID:21239755 RGD:5147772 RGD:5147776 NCBI chr 2:15,793,257...15,819,151
Ensembl chr 2:15,791,455...15,819,137
JBrowse link
G FAM210B family with sequence similarity 210 member B ISO OMIM:152700 | OMIM:300809 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 MouseDO NCBI chr17:56,941,794...56,953,361
Ensembl chr17:56,941,630...56,953,361
JBrowse link
G FAS Fas cell surface death receptor susceptibility ISO protein:increased expression:serum (human)
protein:increased expression:T lymphocyte:
DNA:snps:promoter:g.-1377G>A, g.-670A>G (human)
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
CTD Direct Evidence: marker/mechanism
RGD
MouseDO
CTD
PMID:7531628 PMID:9182923 PMID:23053964 PMID:36999444 RGD:11049450 RGD:8662433 RGD:8662437 NCBI chr14:100,927,305...100,954,781
Ensembl chr14:100,927,089...100,956,716
JBrowse link
G FCGR2B Fc fragment of IgG, low affinity IIb, receptor (CD32) no_association
severity
treatment
susceptibility
ISO DNA:SNPs:exon, intron:10849T>C (rs1050501), 10950T>G (rs6666965) (human)
DNA:SNP:intron:11045G>T (rs12117530) (human)
ClinVar Annotator: match by term: Systemic lupus erythematosus, susceptibility to
DNA:snp:promoter:g.-386G>C (rs3219018) (human)
DNA:snps, haplotype:promoter:g.-386G>C, g.-120T>A (human)
RGD
ClinVar
OMIM
PMID:12115230 PMID:15153543 PMID:15459183 PMID:15895258 PMID:16115811 More... RGD:11056171 RGD:1547879 RGD:1547880 RGD:9588566 RGD:9588603 NCBI chr 4:88,873,762...88,892,964 JBrowse link
G FCGR3A Fc fragment of IgG receptor IIIa susceptibility ISO protein:decreased expression:NK cell
DNA:CNVs
DNA:SNPs:exon:rs403016,rs428888(human)
RGD PMID:18625651 PMID:21370226 PMID:25154742 RGD:11344974 RGD:5508389 RGD:5508444 NCBI chr 4:88,948,357...88,956,513 JBrowse link
G GADD45A growth arrest and DNA damage inducible alpha ISO 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 MouseDO NCBI chr 6:144,940,702...144,944,089
Ensembl chr 6:144,940,697...144,944,089
JBrowse link
G HSPA1L heat shock protein family A (Hsp70) member 1 like ISO DNA:SNPs: :rs2075800, rs2227956 (human) RGD PMID:20498198 RGD:5147600 NCBI chr 7:23,909,960...23,938,678
Ensembl chr 7:23,910,079...23,914,517
JBrowse link
G HSPD1 heat shock protein family D (Hsp60) member 1 ISO protein:increased expression:serum: RGD PMID:8255671 RGD:12910480 NCBI chr15:101,360,355...101,373,498
Ensembl chr15:101,360,094...101,373,526
JBrowse link
G IFIH1 interferon induced with helicase C domain 1 ISO 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
CTD
MouseDO
PMID:19838195 PMID:24686847 NCBI chr15:68,930,998...68,985,145
Ensembl chr15:68,928,254...68,985,083
JBrowse link
G IFNG interferon gamma ISO mRNA:increased expression:leukocyte,mononuclear
protein:increased expression:renal glomerulus
mRNA:increased expression:kidney (human)
RGD PMID:22660635 PMID:22759859 PMID:29925830 RGD:14974252 RGD:155663483 RGD:6893373 NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,906...32,482,670
JBrowse link
G IKZF1 IKAROS family zinc finger 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19838193 NCBI chr 9:136,372,202...136,464,942
Ensembl chr 9:136,372,725...136,464,940
JBrowse link
G IKZF3 IKAROS family zinc finger 3 ISO 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 MouseDO NCBI chr12:22,466,386...22,562,320
Ensembl chr12:22,466,414...22,562,312
JBrowse link
G IL10 interleukin 10 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:12486603 PMID:19838195 PMID:20728533 RGD:1580478 NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,728...67,405,378
JBrowse link
G IL12B interleukin 12B ISO CTD Direct Evidence: marker/mechanism CTD PMID:19838195 PMID:26808113 NCBI chr16:64,143,268...64,158,929
Ensembl chr16:64,143,268...64,158,929
JBrowse link
G IL13 interleukin 13 ISO protein:increased expression:serum RGD PMID:12051401 RGD:8549582 NCBI chr 2:134,972,099...134,976,672
Ensembl chr 2:134,972,623...134,975,093
JBrowse link
G IL17A interleukin 17A ISO protein:increased expression:epidermis (human)
mRNA:increased expression:kidney (human)
RGD PMID:20493423 PMID:22660635 RGD:155663483 RGD:8698667 NCBI chr 7:46,013,584...46,017,161
Ensembl chr 7:46,013,584...46,017,153
JBrowse link
G IL1RN interleukin 1 receptor antagonist ISO protein:increased expression:plasma (human)
DNA:polymorphism:exon:g.14709C>T rs315952 (human)
RGD PMID:17176440 PMID:20805419 RGD:6906963 RGD:6907356
G IL2 interleukin 2 ISO RGD PMID:6421522 RGD:8662948 NCBI chr 8:101,640,938...101,645,683
Ensembl chr 8:101,640,944...101,645,609
JBrowse link
G IL21 interleukin 21 susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:SNP:intron: (rs907715) (human)
CTD
RGD
PMID:17911475 PMID:23236436 RGD:127285363 NCBI chr 8:101,532,742...101,540,712
Ensembl chr 8:101,532,531...101,541,713
JBrowse link
G IL21R interleukin 21 receptor ISO DNA:polymorphism: : rs3093301 (human)
CTD Direct Evidence: therapeutic
RGD
CTD
PMID:17911475 PMID:19164519 PMID:19644854 PMID:20424514 RGD:6892931 RGD:6892933 RGD:6892937 NCBI chr 3:19,447,488...19,489,201
Ensembl chr 3:19,443,359...19,489,152
JBrowse link
G IL23R interleukin 23 receptor ISO protein:increased expression:T cell: RGD PMID:21110900 RGD:8549601 NCBI chr 6:145,337,765...145,401,909
Ensembl chr 6:145,335,741...145,401,510
JBrowse link
G IL4 interleukin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18158872 NCBI chr 2:134,986,817...134,994,365
Ensembl chr 2:134,986,817...134,994,365
JBrowse link
G IL5 interleukin 5 ISO RGD PMID:23054011 RGD:7241039 NCBI chr 2:134,832,143...134,846,141
Ensembl chr 2:134,832,147...134,835,212
JBrowse link
G IL6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18158872 NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263
JBrowse link
G INPP5D inositol polyphosphate-5-phosphatase D ISO 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 MouseDO NCBI chr15:133,501,067...133,626,647
Ensembl chr15:133,501,092...133,626,644
JBrowse link
G IRAK4 interleukin 1 receptor associated kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28003376 NCBI chr 5:74,842,184...74,858,125
Ensembl chr 5:74,834,600...74,859,344
JBrowse link
G IRF5 interferon regulatory factor 5 susceptibility ISO ClinVar Annotator: match by term: Systemic lupus erythematosus, association with susceptibility to, 10 | ClinVar Annotator: match by term: Systemic lupus erythematosus, susceptibility to, 10 ClinVar
OMIM
PMID:15657875 PMID:16642019 PMID:17189288 PMID:17393452 PMID:17476532 More... NCBI chr18:19,678,377...19,691,154
Ensembl chr18:19,678,687...19,691,243
JBrowse link
G IRF8 interferon regulatory factor 8 susceptibility ISO DNA:SNP: (rs4843869) (human) RGD PMID:27021335 RGD:329961559 NCBI chr 6:3,041,617...3,060,685
Ensembl chr 6:3,041,645...3,097,406
JBrowse link
G ITGAM integrin subunit alpha M ISO CTD Direct Evidence: marker/mechanism CTD PMID:18204446 PMID:18204448 NCBI chr 3:17,216,719...17,272,134
Ensembl chr 3:17,204,610...17,268,018
JBrowse link
G JAK1 Janus kinase 1 ISO 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 MouseDO NCBI chr 6:147,320,288...147,567,188
Ensembl chr 6:147,429,056...147,567,182
JBrowse link
G JAK2 Janus kinase 2 ISO RGD PMID:21880982 RGD:6483022 NCBI chr 1:216,849,744...217,002,310
Ensembl chr 1:216,848,689...217,002,148
JBrowse link
G JAZF1 JAZF zinc finger 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19838195 NCBI chr18:44,488,530...44,827,101
Ensembl chr18:44,488,511...44,827,091
JBrowse link
G JUNB JunB proto-oncogene, AP-1 transcription factor subunit ISO 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 MouseDO NCBI chr 2:66,214,086...66,219,435
Ensembl chr 2:66,214,138...66,217,002
JBrowse link
G KLKB1 kallikrein B1 susceptibility ISO DNA:SNPs:promoter: RGD PMID:19307730 RGD:7327150 NCBI chr15:47,071,581...47,100,272
Ensembl chr15:47,071,556...47,103,622
JBrowse link
G LBR lamin B receptor ISO 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 MouseDO NCBI chr10:13,389,896...13,416,831
Ensembl chr10:13,386,946...13,416,759
JBrowse link
G LDLR low density lipoprotein receptor ISO mRNA:decreased expression:leukocyte RGD PMID:19811272 RGD:5490253 NCBI chr 2:69,828,348...69,864,823
Ensembl chr 2:69,828,332...69,864,827
JBrowse link
G LOC100515551 sialic acid-binding Ig-like lectin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26808113 NCBI chr 6:55,781,438...55,791,954 JBrowse link
G LOC100739087 60S ribosomal protein L14-like ISO RGD PMID:12051391 RGD:11036103 NCBI chr 1:56,689,050...56,689,768 JBrowse link
G LOC110258578 interleukin-1 beta-like ISO DNA:SNPs, haplotype:promoter:-511C>T, 3953C>T (human)
mRNA:increased expression:kidney (human)
RGD PMID:15470475 PMID:22660635 RGD:155663483 RGD:7401214
G LYN LYN proto-oncogene, Src family tyrosine kinase ISO 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 MouseDO NCBI chr 4:75,793,273...75,903,710
Ensembl chr 4:75,793,492...75,903,496
JBrowse link
G MAN2A1 mannosidase alpha class 2A member 1 ISO 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 MouseDO NCBI chr 2:114,675,786...114,853,133
Ensembl chr 2:114,675,917...114,855,548
JBrowse link
G MBL2 mannose binding lectin 2 susceptibility ISO DNA:SNP,haplotype:cds:p.G54D,G57E(human)
DNA:SNP:exon
RGD PMID:11561111 PMID:21510992 RGD:5147979 RGD:6903266 NCBI chr14:97,103,926...97,107,635
Ensembl chr14:97,102,823...97,108,083
JBrowse link
G MEFV MEFV innate immunity regulator, pyrin ISO ClinVar Annotator: match by term: Systemic lupus erythematosus ClinVar PMID:5458961 PMID:7677151 PMID:9668175 PMID:10090880 PMID:10737995 More... NCBI chr 3:38,934,573...38,948,609 JBrowse link
G MIR196A-2 microRNA mir-196a-2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27816459 NCBI chr 5:19,204,442...19,204,548
Ensembl chr 5:19,204,442...19,204,548
JBrowse link
G MIR23B microRNA mir-23b treatment ISO mRNA:decreased expression:kidney (mouse)
mRNA, protein:decreased expression:kidney (human)
RGD PMID:22660635 RGD:155663483 NCBI chr10:27,080,197...27,080,276
Ensembl chr10:27,080,197...27,080,276
JBrowse link
G MKI67 marker of proliferation Ki-67 ISO RGD PMID:21693493 RGD:6483529 NCBI chr14:137,266,622...137,296,312 JBrowse link
G MMD monocyte to macrophage differentiation associated ISO associated with Pregnancy Complications;mRNA:increased expression:blood (human) RGD PMID:31684818 RGD:155630630 NCBI chr12:31,695,843...31,723,723
Ensembl chr12:31,695,851...31,723,712
JBrowse link
G MMP1 matrix metallopeptidase 1 ISO protein:increased expression:plasma (human) RGD PMID:9972954 RGD:7207129 NCBI chr 9:33,411,738...33,420,205
Ensembl chr 9:33,411,065...33,420,076
JBrowse link
G MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 ISO DNA:transition:cds:m.9055A>G (human) RGD PMID:18708297 RGD:5490259 NCBI chr MT:9,120...9,800
Ensembl chr MT:9,120...9,800
JBrowse link
G MTA2 metastasis associated 1 family member 2 ISO 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 MouseDO NCBI chr 2:9,137,818...9,146,966
Ensembl chr 2:9,137,946...9,146,961
JBrowse link
G NCF1 neutrophil cytosolic factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28135245 NCBI chr 3:11,820,367...11,834,394
Ensembl chr 3:11,820,266...11,839,354
JBrowse link
G NOD2 nucleotide binding oligomerization domain containing 2 susceptibility ISO DNA:mutation:cds:p.G908R (rs2066845)(human)
protein:increased expression:monocyte
RGD PMID:16642031 PMID:21886831 RGD:13204710 RGD:5508746 NCBI chr 6:34,132,127...34,167,446
Ensembl chr 6:34,130,938...34,177,534
JBrowse link
G NOS2 nitric oxide synthase 2 ISO mRNA:increased expression:bone marrow macrophage (mouse) RGD PMID:22011580 RGD:5508848 NCBI chr12:44,174,944...44,219,875
Ensembl chr12:44,174,948...44,218,146
JBrowse link
G P2RY12 purinergic receptor P2Y12 ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:15304052 RGD:6480537 NCBI chr13:91,522,754...91,572,195
Ensembl chr13:91,521,817...91,572,005
JBrowse link
G PARP1 poly(ADP-ribose) polymerase 1 ISO RGD PMID:17182544 RGD:11074797 NCBI chr10:14,203,157...14,241,164
Ensembl chr10:14,203,160...14,241,196
JBrowse link
G PCNX3 pecanex 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26808113 NCBI chr 2:6,619,213...6,639,933
Ensembl chr 2:6,619,215...6,639,953
JBrowse link
G PDCD1 programmed cell death 1 ISO 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
DNA:polymorphism: : 7,146 G>A (human)
MouseDO
RGD
PMID:17228327 PMID:19116915 RGD:7248674 RGD:7248679 NCBI chr15:140,337,353...140,347,493
Ensembl chr15:140,336,258...140,347,478
JBrowse link
G PGF placental growth factor ISO protein:increased expression:serum RGD PMID:19276301 RGD:6483612 NCBI chr 7:98,149,510...98,162,784
Ensembl chr 7:98,148,994...98,162,741
JBrowse link
G PHRF1 PHD and ring finger domains 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18204446 NCBI chr 2:340,536...371,699
Ensembl chr 2:340,528...371,692
JBrowse link
G PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma ISO RGD PMID:16365454 RGD:6482698 NCBI chr 9:106,698,200...106,748,217
Ensembl chr 9:106,698,207...106,745,099
JBrowse link
G PLD4 phospholipase D family member 4 ISO 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 MouseDO
G POLB DNA polymerase beta ISO 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 MouseDO NCBI chr17:11,356,130...11,388,122
Ensembl chr17:11,356,129...11,388,821
JBrowse link
G PPARG peroxisome proliferator activated receptor gamma ISO 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 MouseDO NCBI chr13:68,301,566...68,433,951
Ensembl chr13:68,302,322...68,433,944
JBrowse link
G PPP2R2B protein phosphatase 2 regulatory subunit Bbeta ISO RGD PMID:21746932 RGD:5686291 NCBI chr 2:147,938,074...148,422,825
Ensembl chr 2:147,937,442...148,411,731
JBrowse link
G PRDM1 PR/SET domain 1 ISO 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
CTD
MouseDO
PMID:19838195 NCBI chr 1:72,309,096...72,335,474
Ensembl chr 1:72,311,880...72,335,466
JBrowse link
G PRF1 perforin 1 severity ISO RGD PMID:21906646 RGD:6482798 NCBI chr14:73,515,306...73,520,256
Ensembl chr14:73,512,769...73,520,202
JBrowse link
G PRL prolactin ISO CTD Direct Evidence: marker/mechanism CTD PMID:14870917 NCBI chr 7:17,451,367...17,463,771
Ensembl chr 7:17,451,367...17,463,710
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17761345 NCBI chr 9:127,850,164...127,858,866
Ensembl chr 9:127,850,015...127,858,884
JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 susceptibility ISO ClinVar Annotator: match by term: Systemic lupus erythematosus OMIM
ClinVar
PMID:25741868 NCBI chr 4:106,692,102...106,758,101
Ensembl chr 4:106,686,604...106,758,099
JBrowse link
G PTPRC protein tyrosine phosphatase receptor type C ISO 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 MouseDO NCBI chr10:21,482,984...21,601,627
Ensembl chr10:21,560,073...21,601,308
JBrowse link
G PXK PX domain containing serine/threonine kinase like ISO CTD Direct Evidence: marker/mechanism CTD PMID:18204446 NCBI chr13:40,079,238...40,160,387
Ensembl chr13:40,074,466...40,160,380
JBrowse link
G RASGRP1 RAS guanyl releasing protein 1 ISO 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
CTD
MouseDO
PMID:26808113 NCBI chr 1:132,702,495...132,786,536
Ensembl chr 1:132,702,541...132,786,532
JBrowse link
G RASGRP3 RAS guanyl releasing protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19838193 NCBI chr 3:106,098,541...106,213,787
Ensembl chr 3:106,099,821...106,213,728
JBrowse link
G RASSF5 Ras association domain family member 5 ISO 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 MouseDO NCBI chr 9:67,157,167...67,237,366
Ensembl chr 9:67,157,167...67,237,365
JBrowse link
G RC3H1 ring finger and CCCH-type domains 1 ISO 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 MouseDO NCBI chr 9:116,204,807...116,292,455
Ensembl chr 9:116,208,799...116,292,381
JBrowse link
G RETN resistin ISO RGD PMID:21885493 RGD:7207148 NCBI chr 2:71,484,164...71,485,577
Ensembl chr 2:71,484,169...71,485,616
JBrowse link
G RO60 Ro60, Y RNA binding protein ISO 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 MouseDO NCBI chr10:694,335...725,378
Ensembl chr10:694,445...725,346
JBrowse link
G RPL12 ribosomal protein L12 ISO RGD PMID:11161982 RGD:11035232 NCBI chr 1:267,961,398...267,964,881
Ensembl chr 1:267,961,404...267,964,881
JBrowse link
G RUBCN rubicon autophagy regulator ISO 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 MouseDO NCBI chr13:134,299,971...134,363,620
Ensembl chr13:134,299,152...134,353,374
JBrowse link
G RXRA retinoid X receptor alpha ISO 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 MouseDO NCBI chr 1:273,698,842...273,797,622
Ensembl chr 1:273,705,505...273,797,620
JBrowse link
G SELL selectin L ISO RGD PMID:20512127 RGD:7175284 NCBI chr 4:81,306,363...81,325,296
Ensembl chr 4:81,306,353...81,326,444
JBrowse link
G SFTPD surfactant protein D ISO protein:decreased expression:serum RGD PMID:19833760 RGD:4143493 NCBI chr14:82,051,400...82,069,258
Ensembl chr14:82,051,451...82,067,976
JBrowse link
G SH2B3 SH2B adaptor protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19838195 NCBI chr14:32,623,286...32,664,606
Ensembl chr14:32,623,286...32,664,606
JBrowse link
G SLC11A1 solute carrier family 11 member 1 ISO DNA:deletion:3' utr: (human) RGD PMID:21233146 RGD:5684928 NCBI chr15:120,434,100...120,446,396
Ensembl chr15:120,433,952...120,446,396
JBrowse link
G SLC15A4 solute carrier family 15 member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19838193 NCBI chr14:26,122,362...26,154,414
Ensembl chr14:26,122,386...26,154,781
JBrowse link
G SNRNP70 small nuclear ribonucleoprotein U1 subunit 70 ISO RGD PMID:10940910 PMID:22454191 RGD:10448935 RGD:10448939 NCBI chr 6:54,288,354...54,304,272
Ensembl chr 6:54,288,397...54,304,103
JBrowse link
G SNRPC small nuclear ribonucleoprotein polypeptide C ISO RGD PMID:8647956 RGD:10766446 NCBI chr 7:30,708,243...30,723,480
Ensembl chr 7:30,708,332...30,724,045
JBrowse link
G SNRPD1 small nuclear ribonucleoprotein D1 polypeptide severity ISO mouse model RGD PMID:12571858 RGD:10755713 NCBI chr 6:106,798,201...106,810,178
Ensembl chr 6:106,798,265...106,813,816
JBrowse link
G SNRPD2 small nuclear ribonucleoprotein D2 polypeptide ISO RGD PMID:11823543 RGD:10766471 NCBI chr 6:52,035,900...52,042,474
Ensembl chr 6:52,035,134...52,042,474
JBrowse link
G SNRPD3 small nuclear ribonucleoprotein D3 polypeptide ISO RGD PMID:17640359 RGD:10755704 NCBI chr14:49,585,177...49,598,015 JBrowse link
G SOCS1 suppressor of cytokine signaling 1 ISO ClinVar Annotator: match by term: Systemic lupus erythematosus ClinVar PMID:33087723 NCBI chr 3:31,879,143...31,883,041
Ensembl chr 3:31,881,225...31,884,967
JBrowse link
G SOD2 superoxide dismutase 2 ISO DNA:SNP, haplotype: :1183C>T (human) RGD PMID:14611903 RGD:1581249 NCBI chr 1:7,679,352...7,689,564
Ensembl chr 1:7,679,352...7,689,560
JBrowse link
G STAT4 signal transducer and activator of transcription 4 treatment
onset
ISO DNA:SNP:intron:c.274-23582A>C (rs7574865) (human)
ClinVar Annotator: match by term: STAT4-related condition | ClinVar Annotator: match by term: Systemic lupus erythematosus, susceptibility to, 11
RGD
ClinVar
OMIM
PMID:16920939 PMID:17804842 PMID:19109131 PMID:19838193 PMID:19838195 More... RGD:7207874 RGD:7207877 NCBI chr15:95,656,206...95,764,099
Ensembl chr15:95,656,077...95,763,472
JBrowse link
G SYNGR1 synaptogyrin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26808113 NCBI chr 5:8,870,641...8,902,267
Ensembl chr 5:8,870,645...8,902,270
JBrowse link
G TAB2 TGF-beta activated kinase 1 (MAP3K7) binding protein 2 ISO mRNA, protein:increased expression:kidney (human) RGD PMID:22660635 RGD:155663483 NCBI chr 1:16,533,364...16,611,879
Ensembl chr 1:16,533,285...16,611,884
JBrowse link
G TAB3 TGF-beta activated kinase 1 (MAP3K7) binding protein 3 ISO mRNA, protein:increased expression:kidney (human) RGD PMID:22660635 RGD:155663483 NCBI chr  X:26,632,547...26,729,039
Ensembl chr  X:26,632,551...26,729,051
JBrowse link
G TAP1 transporter 1, ATP binding cassette subfamily B member no_association ISO RGD PMID:9014588 RGD:6482277 NCBI chr 7:25,062,772...25,071,989
Ensembl chr 7:25,062,768...25,074,843
JBrowse link
G TAP2 transporter 2, ATP binding cassette subfamily B member susceptibility
no_association
ISO RGD PMID:9014588 PMID:12634240 RGD:6482273 RGD:6482277 NCBI chr 7:25,045,085...25,056,915
Ensembl chr 7:25,043,840...25,056,922
JBrowse link
G TCF7 transcription factor 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26808113 NCBI chr 2:136,422,740...136,456,323
Ensembl chr 2:136,422,940...136,457,910
JBrowse link
G TERT telomerase reverse transcriptase ISO CTD Direct Evidence: marker/mechanism CTD PMID:26808113 NCBI chr16:79,258,591...79,276,421
Ensembl chr16:79,258,591...79,276,421
JBrowse link
G TFPI tissue factor pathway inhibitor ISO protein:decreased expression:plasma: RGD PMID:11709459 RGD:11060258 NCBI chr15:92,345,083...92,409,962
Ensembl chr15:92,345,075...92,409,905
JBrowse link
G THBD thrombomodulin ISO protein:increased expression:serum RGD PMID:18484695 RGD:5684995 NCBI chr17:30,219,870...30,223,499
Ensembl chr17:30,217,303...30,224,099
JBrowse link
G TIMD4 T cell immunoglobulin and mucin domain containing 4 ISO 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 MouseDO NCBI chr16:66,253,572...66,292,963
Ensembl chr16:66,253,604...66,292,961
JBrowse link
G TLR4 toll like receptor 4 ISO RGD PMID:19841185 RGD:7241088 NCBI chr 1:258,044,610...258,054,641
Ensembl chr 1:258,044,610...258,058,970
JBrowse link
G TLR5 toll like receptor 5 susceptibility ISO ClinVar Annotator: match by term: Systemic lupus erythematosus, resistance to, 1 | ClinVar Annotator: match by term: Systemic lupus erythematosus, susceptibility to, 1 ClinVar
OMIM
PMID:14623910 PMID:16027372 PMID:23447684 PMID:25741868 NCBI chr10:19,387,666...19,410,024
Ensembl chr10:19,387,666...19,410,024
JBrowse link
G TLR7 toll like receptor 7 ISO ClinVar Annotator: match by term: Systemic lupus erythematosus ClinVar PMID:35477763 NCBI chr  X:9,573,178...9,576,987 JBrowse link
G TLR9 toll like receptor 9 severity
susceptibility
ISO DNA:snp:exon:c.1635C>T rs352140 (human)
mRNA:increased expression:B lymphocyte (mouse)
RGD PMID:16973389 PMID:19130296 PMID:21592581 RGD:5130767 RGD:7245988 RGD:7246894 NCBI chr13:34,353,444...34,370,990
Ensembl chr13:34,349,609...34,357,673
JBrowse link
G TNF tumor necrosis factor ISO ClinVar Annotator: match by term: Systemic lupus erythematosus, susceptibility to ClinVar PMID:8056188 PMID:9818939 PMID:10450718 PMID:11261930 PMID:11506397 More... NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,415
JBrowse link
G TNFAIP3 TNF alpha induced protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19165918 PMID:19165919 PMID:19838193 PMID:21336280 NCBI chr 1:26,474,158...26,489,771
Ensembl chr 1:26,473,938...26,489,822
JBrowse link
G TNFRSF13B TNF receptor superfamily member 13B ISO 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 MouseDO NCBI chr12:61,245,976...61,270,154
Ensembl chr12:61,246,062...61,270,146
JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A severity ISO protein:increased expression:serum RGD PMID:8393677 RGD:7245539 NCBI chr 5:64,319,349...64,331,876
Ensembl chr 5:64,319,051...64,331,909
JBrowse link
G TNFRSF1B TNF receptor superfamily member 1B no_association
severity
ISO DNA:missense mutation:cds:p.M196R (human)
protein:increased expression:serum
RGD PMID:8393677 PMID:11607787 RGD:7245539 RGD:7245571 NCBI chr 6:72,195,420...72,231,146
Ensembl chr 6:72,195,435...72,231,147
JBrowse link
G TNFSF4 TNF superfamily member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18059267 PMID:19838193 NCBI chr 9:115,535,185...115,857,457
Ensembl chr 9:115,550,569...115,659,263
JBrowse link
G TNIP1 TNFAIP3 interacting protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19838193 PMID:19838195 NCBI chr16:71,926,038...71,979,969
Ensembl chr16:71,926,133...71,979,966
JBrowse link
G TRAF3IP2 TRAF3 interacting protein 2 ISO 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 MouseDO NCBI chr 1:77,483,997...77,541,557
Ensembl chr 1:77,487,577...77,541,198
JBrowse link
G TREX1 three prime repair exonuclease 1 ISO ClinVar Annotator: match by term: CR2-related condition | ClinVar Annotator: match by term: Systemic lupus erythematosus ClinVar
OMIM
PMID:16845398 PMID:17293595 PMID:17660818 PMID:17660820 PMID:17846997 More... NCBI chr13:31,177,604...31,180,764
Ensembl chr13:31,179,291...31,180,747
JBrowse link
G VCAM1 vascular cell adhesion molecule 1 severity ISO RGD PMID:18693542 RGD:7241211 NCBI chr 4:117,496,914...117,511,211
Ensembl chr 4:117,496,920...117,511,222
JBrowse link
G VIM vimentin ISO RGD PMID:3780056 RGD:6480476 NCBI chr10:43,516,441...43,526,172
Ensembl chr10:43,517,307...43,526,170
JBrowse link
Systemic Lupus Erythematosus 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNASE1L3 deoxyribonuclease 1L3 ISO ClinVar Annotator: match by term: DNASE1L3-related condition | ClinVar Annotator: match by term: Systemic lupus erythematosus 16 OMIM
ClinVar
PMID:21692081 PMID:22019780 PMID:24206041 PMID:25741868 PMID:27821515 More... NCBI chr13:39,958,384...39,976,114
Ensembl chr13:39,958,387...39,975,946
JBrowse link
Systemic Lupus Erythematosus 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TLR7 toll like receptor 7 ISO ClinVar Annotator: match by term: Systemic lupus erythematosus 17 OMIM
ClinVar
PMID:28492532 PMID:35477763 NCBI chr  X:9,573,178...9,576,987 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15438
    disease of anatomical entity 15107
      musculoskeletal system disease 7855
        autoimmune disease of musculoskeletal system 898
          lupus erythematosus 206
            cutaneous lupus erythematosus + 13
            drug-induced lupus erythematosus 0
            systemic lupus erythematosus + 200
Path 2
Term Annotations click to browse term
  disease 15438
    disease of anatomical entity 15107
      Immune & Inflammatory Diseases 5148
        immune system disease 4599
          primary immunodeficiency disease 4042
            autoimmune disease 2034
              autoimmune disease of musculoskeletal system 898
                lupus erythematosus 206
                  cutaneous lupus erythematosus + 13
                  drug-induced lupus erythematosus 0
                  systemic lupus erythematosus + 200
paths to the root