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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.


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lupus erythematosus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD1D CD1d molecule ameliorates ISO RGD PMID:14561706 RGD:127345108 NCBI chr20:5,726,307...5,733,355
Ensembl chr20:5,727,049...5,730,061
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 chr20:110,024,847...110,027,868 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 chr20:110,003,036...110,011,317
Ensembl chr20:110,002,864...110,011,316
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 chr20:110,016,355...110,021,123
Ensembl chr20:110,016,362...110,020,854
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 chr20:110,024,847...110,027,868 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 chr20:110,003,036...110,011,317
Ensembl chr20:110,002,864...110,011,316
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 chr20:110,016,355...110,021,123
Ensembl chr20:110,016,362...110,020,854
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 chr22:9,849,439...9,869,654
Ensembl chr22:9,849,570...9,869,553
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 chr22:9,869,502...9,871,659 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 chr22:9,849,439...9,869,654
Ensembl chr22:9,849,570...9,869,553
JBrowse link
G SAMHD1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27566796 NCBI chr 2:57,641,634...57,699,685
Ensembl chr 2:57,639,046...57,699,525
JBrowse link
G STING1 stimulator of interferon response cGAMP interactor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27566796 NCBI chr23:42,153,576...42,160,903
Ensembl chr23:42,153,026...42,160,907
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 chr22:9,869,502...9,871,659 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 chr 2:57,641,634...57,699,685
Ensembl chr 2:57,639,046...57,699,525
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 chr 2:57,629,205...57,640,736
Ensembl chr 2:57,627,764...57,640,177
JBrowse link
cutaneous lupus erythematosus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCR3 C-C motif chemokine receptor 3 ISO RGD PMID:21844117 RGD:6892918 NCBI chr22:7,648,410...7,698,523
Ensembl chr22:7,697,068...7,698,135
JBrowse link
G CD40 CD40 molecule ISO RGD PMID:18050371 RGD:8547765 NCBI chr 2:17,753,713...17,765,134
Ensembl chr 2:17,753,394...17,764,566
JBrowse link
G CD40LG CD40 ligand ISO RGD PMID:18050371 RGD:8547765 NCBI chr  X:111,655,301...111,667,602
Ensembl chr  X:111,655,397...111,666,639
JBrowse link
G CSF1 colony stimulating factor 1 ISO RGD PMID:18981160 RGD:7257572 NCBI chr20:23,615,107...23,635,399 JBrowse link
G IL17A interleukin 17A ISO protein:increased expression:epidermis (human) RGD PMID:20493423 RGD:8698667 NCBI chr17:20,314,082...20,319,917
Ensembl chr17:20,315,773...20,318,785
JBrowse link
G TREX1 three prime repair exonuclease 1 ISO MouseDO NCBI chr22:9,869,502...9,871,659 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 chr12:84,207,818...84,226,438
Ensembl chr12:84,207,820...84,226,562
JBrowse link
G CD40 CD40 molecule ISO RGD PMID:18050371 RGD:8547765 NCBI chr 2:17,753,713...17,765,134
Ensembl chr 2:17,753,394...17,764,566
JBrowse link
G CD40LG CD40 ligand ISO RGD PMID:18050371 RGD:8547765 NCBI chr  X:111,655,301...111,667,602
Ensembl chr  X:111,655,397...111,666,639
JBrowse link
G IL17A interleukin 17A ISO protein:increased expression:epidermis (human) RGD PMID:20493423 RGD:8698667 NCBI chr17:20,314,082...20,319,917
Ensembl chr17:20,315,773...20,318,785
JBrowse link
G MHC-DQA1 major histocompatibility complex, class II, DQ alpha 1 susceptibility ISO DNA:polymorphism: :HLA-DQA1*0102 RGD PMID:7883595 RGD:8547567 NCBI chr17:39,422,445...39,428,777
Ensembl chr17:39,420,134...39,428,871
JBrowse link
G NAT2 N-acetyltransferase 2 treatment ISO DNA:polymorphisms: : RGD PMID:9170150 RGD:8552671 NCBI chr 8:16,451,144...16,494,961
Ensembl chr 8:16,493,749...16,494,621
JBrowse link
G OGG1 8-oxoguanine DNA glycosylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:33072095 NCBI chr22:45,757,414...45,763,690 JBrowse link
G TRAF3IP2 TRAF3 interacting protein 2 ISO ClinVar Annotator: match by term: Discoid lupus erythematosus ClinVar PMID:25741868 NCBI chr13:62,272,893...62,320,096
Ensembl chr13:62,285,589...62,324,312
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 chr17:39,847,343...39,851,288
Ensembl chr17:39,847,759...39,851,127
JBrowse link
G APOC3 apolipoprotein C3 ISO protein:increased expression:serum RGD PMID:17957542 RGD:7207211 NCBI chr 1:108,196,283...108,199,274
Ensembl chr 1:108,196,939...108,199,342
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 6:6,250,422...6,289,264 JBrowse link
G CCL2 C-C motif chemokine 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 chr16:27,763,354...27,765,437
Ensembl chr16:27,763,555...27,765,416
JBrowse link
G CCR1 C-C motif chemokine receptor 1 disease_progression ISO RGD PMID:15153561 RGD:5688164 NCBI chr22:7,634,205...7,641,380 JBrowse link
G CD40 CD40 molecule treatment ISO RGD PMID:18566369 PMID:19265127 PMID:23799000 RGD:7248418 RGD:7248425 RGD:7248429 NCBI chr 2:17,753,713...17,765,134
Ensembl chr 2:17,753,394...17,764,566
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:111,655,301...111,667,602
Ensembl chr  X:111,655,397...111,666,639
JBrowse link
G CFB complement factor B ISO RGD PMID:3183062 PMID:10623824 PMID:21893562 RGD:7242736 RGD:7242755 RGD:7242763 Ensembl chr17:40,069,909...40,094,207 JBrowse link
G CFH complement factor H ISO RGD PMID:22171659 RGD:5684551 NCBI chr25:32,557,697...32,744,763 JBrowse link
G CLU clusterin ISO mRNA:increased expression: epithelial cell of renal tubule RGD PMID:9546356 RGD:8890679 NCBI chr 8:25,704,441...25,721,789
Ensembl chr 8:25,703,257...25,721,789
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 chr16:43,134,648...43,152,313
Ensembl chr16:43,134,779...43,150,930
JBrowse link
G CRP C-reactive protein no_association ISO DNA:SNP RGD PMID:15692982 PMID:17596285 PMID:18852001 PMID:20039408 RGD:5508454 RGD:6907400 RGD:6909145 RGD:6909146 NCBI chr20:4,232,262...4,235,826
Ensembl chr20:4,232,913...4,235,377
JBrowse link
G CSF1 colony stimulating factor 1 ISO RGD PMID:17659436 PMID:21885670 RGD:7257567 RGD:7257589 NCBI chr20:23,615,107...23,635,399 JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 ISO RGD PMID:15146424 RGD:7204726 NCBI chr10:89,637,176...89,644,436
Ensembl chr10:89,638,314...89,642,344
JBrowse link
G EGF epidermal growth factor ISO RGD PMID:21354048 RGD:5688301 NCBI chr 7:57,810,110...57,911,361
Ensembl chr 7:57,811,728...57,911,516
JBrowse link
G FCGR2A Fc fragment of IgG receptor IIa ISO ClinVar Annotator: match by term: Lupus nephritis, susceptibility to ClinVar PMID:8636449 PMID:9843982 PMID:10675363 PMID:15367919 PMID:19915573 More... NCBI chr20:2,480,710...2,512,429 JBrowse link
G FCGR3A Fc fragment of IgG receptor IIIa susceptibility ISO DNA:SNP:cds:p.V158F (human) RGD PMID:17596285 RGD:5508454 NCBI chr20:2,466,492...2,475,579 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 chr11:63,785,493...63,791,071
Ensembl chr11:63,786,041...63,790,473
JBrowse link
G IL17A interleukin 17A treatment ISO RGD PMID:25129462 RGD:9244623 NCBI chr17:20,314,082...20,319,917
Ensembl chr17:20,315,773...20,318,785
JBrowse link
G IL18 interleukin 18 ISO RGD PMID:20980973 RGD:6893449 NCBI chr 1:103,485,868...103,511,632
Ensembl chr 1:103,482,083...103,510,150
JBrowse link
G IL1B interleukin 1 beta ISO mRNA:increased expression:renal glomerulus (mouse) RGD PMID:20410215 PMID:21641991 RGD:7175315 RGD:7175344 NCBI chr14:15,844,628...15,852,652
Ensembl chr14:15,844,672...15,850,729
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 NCBI chr14:16,136,667...16,152,451
Ensembl chr14:16,146,333...16,151,326
JBrowse link
G ITGAM integrin subunit alpha M ISO RGD PMID:21719445 RGD:5147916 NCBI chr 5:27,957,162...28,042,697
Ensembl chr 5:27,957,324...28,042,691
JBrowse link
G JAK1 Janus kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31182691 NCBI chr20:68,122,134...68,253,361
Ensembl chr20:68,122,173...68,252,042
JBrowse link
G KLKB1 kallikrein B1 susceptibility ISO DNA:SNPs:promoter: RGD PMID:19307730 RGD:7327150 NCBI chr 7:132,143,514...132,173,189
Ensembl chr 7:132,144,420...132,173,187
JBrowse link
G LOC103223672 low affinity immunoglobulin gamma Fc region receptor II-b ISO RGD PMID:15681388 RGD:7240529 NCBI chr20:2,398,425...2,413,328 JBrowse link
G LOC103242767 C-C motif chemokine 3 ISO RGD PMID:18187931 RGD:7241814 NCBI chr16:29,887,799...29,897,664
Ensembl chr16:29,887,883...29,897,544
JBrowse link
G MBL2 mannose binding lectin 2 disease_progression ISO DNA:polymorphism:exon: RGD PMID:24850777 RGD:12910847 NCBI chr 9:78,389,534...78,394,753
Ensembl chr 9:78,389,947...78,396,079
JBrowse link
G MHC-DQA1 major histocompatibility complex, class II, DQ alpha 1 susceptibility ISO DNA:polymorphisms:cds:HLA-DQA1*0102 (human)
DNA:polymorphisms:cds:HLA-DQA1*0101 (human)
RGD PMID:12651073 RGD:40902999 NCBI chr17:39,422,445...39,428,777
Ensembl chr17:39,420,134...39,428,871
JBrowse link
G MMP2 matrix metallopeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22479529 NCBI chr 5:41,264,382...41,291,657
Ensembl chr 5:41,264,354...41,291,004
JBrowse link
G MMP9 matrix metallopeptidase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22479529 NCBI chr 2:17,867,267...17,874,757
Ensembl chr 2:17,867,177...17,874,712
JBrowse link
G MPO myeloperoxidase susceptibility ISO DNA:polymorphism: :−463G > A (human) RGD PMID:17896805 RGD:7174701 NCBI chr16:35,120,194...35,130,851
Ensembl chr16:35,120,581...35,130,671
JBrowse link
G MTOR mechanistic target of rapamycin kinase ISO RGD PMID:17283580 RGD:7245502 NCBI chr20:120,522,667...120,678,988
Ensembl chr20:120,525,737...120,679,020
JBrowse link
G MUC20 mucin 20, cell surface associated ISO RGD PMID:14565953 RGD:7364790 NCBI chr15:91,354,233...91,369,553
Ensembl chr15:91,357,841...91,369,482
JBrowse link
G NR3C1 nuclear receptor subfamily 3 group C member 1 ISO RGD PMID:17880936 PMID:21509671 RGD:7174713 RGD:7174734 NCBI chr23:45,904,926...46,031,804
Ensembl chr23:45,904,873...46,031,125
JBrowse link
G OTUB1 OTU deubiquitinase, ubiquitin aldehyde binding 1 ISO protein:increased expression:kidney RGD PMID:22279542 RGD:7175260 NCBI chr 1:10,247,260...10,271,026 JBrowse link
G PDCD1 programmed cell death 1 onset ISO DNA:polymorphism: :
DNA:polymorphism:intron:6867 C>T (human)
RGD PMID:15352422 PMID:15934088 PMID:21041733 RGD:7248675 RGD:7248676 RGD:7248678 NCBI chr10:127,877,383...127,886,234
Ensembl chr10:127,878,554...127,886,088
JBrowse link
G SELL selectin L ISO RGD PMID:20512127 RGD:7175284 NCBI chr25:59,345,080...59,365,684
Ensembl chr25:59,345,069...59,366,946
JBrowse link
G SERPING1 serpin family G member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:4014294 NCBI chr 1:15,617,122...15,634,540
Ensembl chr 1:15,616,674...15,633,855
JBrowse link
G SNRPE small nuclear ribonucleoprotein polypeptide E treatment ISO mouse model RGD PMID:15494537 RGD:10760401 NCBI chr25:25,474,620...25,483,427 JBrowse link
G STAT1 signal transducer and activator of transcription 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31182691 NCBI chr10:76,492,859...76,537,689
Ensembl chr10:76,492,533...76,533,393
JBrowse link
G STAT4 signal transducer and activator of transcription 4 ISO RGD PMID:20980973 RGD:6893449 NCBI chr10:76,553,626...76,708,540
Ensembl chr10:76,553,606...76,674,928
JBrowse link
G STAT6 signal transducer and activator of transcription 6 disease_progression ISO RGD PMID:12874250 RGD:7244140 NCBI chr11:53,005,378...53,020,899
Ensembl chr11:53,006,145...53,021,203
JBrowse link
G TLR7 toll like receptor 7 ISO RGD PMID:19944565 RGD:7246905 NCBI chr  X:11,348,520...11,372,132 JBrowse link
G TNF tumor necrosis factor ISO protein:increased expression:glomerular mesangial cell RGD PMID:7750940 RGD:7394786
G TNFRSF11B TNF receptor superfamily member 11b ISO associated with Lupus Erythematosus, Systemic;protein:increased expression:urine RGD PMID:21691937 RGD:7205483 NCBI chr 8:113,520,711...113,549,370
Ensembl chr 8:113,520,596...113,548,936
JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A severity ISO RGD PMID:10906156 PMID:19201910 RGD:7245569 RGD:7245572 NCBI chr11:6,364,544...6,378,880
Ensembl chr11:6,364,330...6,378,902
JBrowse link
G TNFRSF1B TNF receptor superfamily member 1B treatment ISO RGD PMID:22674120 PMID:22846145 RGD:7245541 RGD:7245544 NCBI chr20:119,590,621...119,633,562
Ensembl chr20:119,590,325...119,633,497
JBrowse link
G VCAM1 vascular cell adhesion molecule 1 severity ISO protein:increased expression:urine RGD PMID:22788914 RGD:7241032 NCBI chr20:32,616,425...32,635,903
Ensembl chr20:32,615,333...32,635,862
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 chr20:2,466,492...2,475,579 JBrowse link
G INA internexin neuronal intermediate filament protein alpha severity ISO RGD PMID:20559547 RGD:40886275 NCBI chr 9:96,325,122...96,338,057
Ensembl chr 9:96,325,180...96,336,358
JBrowse link
G ITGAM integrin subunit alpha M ISO CTD Direct Evidence: marker/mechanism CTD PMID:26773105 NCBI chr 5:27,957,162...28,042,697
Ensembl chr 5:27,957,324...28,042,691
JBrowse link
G SELP selectin P ISO RGD PMID:20179168 RGD:6478687 NCBI chr25:59,420,910...59,465,140
Ensembl chr25:59,433,333...59,462,598
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 chr12:4,677,237...4,718,825
Ensembl chr12:4,677,229...4,714,386
JBrowse link
G ADIPOQ adiponectin, C1Q and collagen domain containing ISO RGD PMID:19109165 RGD:5686827 NCBI chr15:81,128,427...81,142,779
Ensembl chr15:81,129,795...81,147,391
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 chr17:39,847,343...39,851,288
Ensembl chr17:39,847,759...39,851,127
JBrowse link
G AGTR2 angiotensin II receptor type 2 ISO RGD PMID:21900645 RGD:6892717
G ANXA3 annexin A3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22446963 NCBI chr 7:26,999,136...27,060,783
Ensembl chr 7:26,999,012...27,061,692
JBrowse link
G APOA1 apolipoprotein A1 severity
treatment
ISO RGD PMID:20131231 PMID:20482780 RGD:7241863 RGD:7241864 NCBI chr 1:108,201,967...108,203,902
Ensembl chr 1:108,201,439...108,203,609
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 chr13:67,482,538...67,619,201
Ensembl chr13:67,482,595...67,617,902
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 chr22:47,187,305...47,571,309
Ensembl chr22:47,325,614...47,571,070
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 chr22:9,849,439...9,869,654
Ensembl chr22:9,849,570...9,869,553
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 7:49,910,851...50,205,524
Ensembl chr 7:49,911,393...50,204,476
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 chr16:63,469,187...63,482,627
Ensembl chr16:63,469,192...63,485,322
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 chr 8:7,547,200...7,618,645
Ensembl chr 8:7,547,299...7,569,188
JBrowse link
G BLTP3A bridge-like lipid transfer protein family member 3A ISO CTD Direct Evidence: marker/mechanism CTD PMID:19838195 NCBI chr17:37,241,841...37,322,220
Ensembl chr17:37,246,908...37,321,337
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 chr20:110,024,847...110,027,868 JBrowse link
G C2 complement C2 ISO RGD PMID:6409476 RGD:7421516 NCBI chr17:40,069,852...40,094,478
Ensembl chr17:40,069,909...40,094,207
JBrowse link
G C3 complement C3 severity ISO protein:increased processing RGD PMID:7510492 RGD:11040772 NCBI chr 6:6,250,422...6,289,264 JBrowse link
G C3AR1 complement C3a receptor 1 ISO protein:increased expression:lung, leukocyte RGD PMID:17544263 RGD:5129560 NCBI chr11:8,128,192...8,135,517
Ensembl chr11:8,128,620...8,130,062
JBrowse link
G C5AR1 complement C5a receptor 1 ISO protein:increased expression:lung, leukocyte RGD PMID:17544263 RGD:5129560 NCBI chr 6:40,633,540...40,651,839
Ensembl chr 6:40,633,448...40,652,845
JBrowse link
G CA1 carbonic anhydrase 1 ISO RGD PMID:12806141 RGD:408425977 NCBI chr 8:80,699,114...80,729,932
Ensembl chr 8:80,699,651...80,712,858
JBrowse link
G CA2 carbonic anhydrase 2 ISO RGD PMID:12806141 RGD:408425977 NCBI chr 8:80,830,963...80,848,245
Ensembl chr 8:80,830,939...80,848,707
JBrowse link
G CAST calpastatin ISO RGD PMID:12367559 RGD:5683623 NCBI chr 4:90,496,867...90,607,019
Ensembl chr 4:90,497,754...90,605,481
JBrowse link
G CAT catalase ISO CTD Direct Evidence: marker/mechanism CTD PMID:27497885 NCBI chr 1:30,792,533...30,828,920
Ensembl chr 1:30,792,399...30,829,592
JBrowse link
G CCL2 C-C motif chemokine ligand 2 no_association
susceptibility
ISO DNA:snp:promoter:g.-2518A>G (human) RGD PMID:11844145 PMID:20414371 RGD:11528535 RGD:11528536 NCBI chr16:27,763,354...27,765,437
Ensembl chr16:27,763,555...27,765,416
JBrowse link
G CCR3 C-C motif chemokine receptor 3 severity ISO RGD PMID:21180278 RGD:6893428 NCBI chr22:7,648,410...7,698,523
Ensembl chr22:7,697,068...7,698,135
JBrowse link
G CCR5 C-C motif chemokine receptor 5 ISO mRNA:increased expression:blood, mononuclear cell RGD PMID:21180278 RGD:6893428 NCBI chr22:7,803,794...7,818,112 JBrowse link
G CD226 CD226 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:26808113 NCBI chr18:9,790,483...9,900,376
Ensembl chr18:9,811,168...9,901,830
JBrowse link
G CD4 CD4 molecule treatment ISO RGD PMID:7914411 RGD:10058961 NCBI chr11:6,824,797...6,856,440
Ensembl chr11:6,825,245...6,853,852
JBrowse link
G CD40 CD40 molecule susceptibility ISO DNA:SNP: :rs3765456 (human)
DNA:SNP: :rs4810485 (human)
RGD PMID:21914625 PMID:23256180 RGD:5490522 RGD:7248721 NCBI chr 2:17,753,713...17,765,134
Ensembl chr 2:17,753,394...17,764,566
JBrowse link
G CD40LG CD40 ligand ISO protein:increased expression:serum
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
RGD
CTD
MouseDO
PMID:9036998 PMID:20726330 PMID:28793932 RGD:11352248 RGD:7248426 NCBI chr  X:111,655,301...111,667,602
Ensembl chr  X:111,655,397...111,666,639
JBrowse link
G CD46 CD46 molecule severity ISO mRNA:increased expression:leukocyte (human) RGD PMID:22247341 RGD:6483457 NCBI chr25:21,650,825...21,693,898
Ensembl chr25:21,655,969...21,693,878
JBrowse link
G CD80 CD80 molecule ISO RGD PMID:20653937 RGD:6902898 NCBI chr22:61,258,281...61,294,772 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 chr17:35,445,668...35,454,334
Ensembl chr17:35,445,223...35,454,342
JBrowse link
G CFB complement factor B ISO CTD Direct Evidence: marker/mechanism CTD PMID:19838195 Ensembl chr17:40,069,909...40,094,207 JBrowse link
G CFH complement factor H susceptibility ISO RGD PMID:21637784 RGD:5684554 NCBI chr25:32,557,697...32,744,763 JBrowse link
G CHAF1A chromatin assembly factor 1 subunit A ISO RGD PMID:24836587 RGD:9587742 NCBI chr 6:4,134,405...4,174,281
Ensembl chr 6:4,137,738...4,174,988
JBrowse link
G CIITA class II major histocompatibility complex transactivator resistance
no_association
ISO 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 5:10,341,690...10,401,988
Ensembl chr 5:10,372,344...10,400,451
JBrowse link
G CLEC16A C-type lectin domain containing 16A ISO CTD Direct Evidence: marker/mechanism CTD PMID:19838195 NCBI chr 5:10,420,866...10,658,370
Ensembl chr 5:10,420,931...10,658,507
JBrowse link
G CLU clusterin ISO CTD Direct Evidence: marker/mechanism
protein:decreased expression:serum
CTD
RGD
PMID:10090169 PMID:15304052 RGD:8696021 NCBI chr 8:25,704,441...25,721,789
Ensembl chr 8:25,703,257...25,721,789
JBrowse link
G CR2 complement C3d receptor 2 ISO ClinVar Annotator: match by term: CR2-related condition | ClinVar Annotator: match by term: Systemic lupus erythematosus, susceptibility to, 9 OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:24029428 PMID:24033266 PMID:25741868 More... NCBI chr25:21,914,690...21,954,244
Ensembl chr25:21,919,393...21,953,659
JBrowse link
G CRP C-reactive protein treatment
no_association
disease_progression
ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:8261665 PMID:17014014 PMID:17718048 PMID:20039408 RGD:6907402 RGD:6909144 RGD:6909146 NCBI chr20:4,232,262...4,235,826
Ensembl chr20:4,232,913...4,235,377
JBrowse link
G CSF1 colony stimulating factor 1 ISO RGD PMID:15383612 RGD:7257578 NCBI chr20:23,615,107...23,635,399 JBrowse link
G CSK C-terminal Src kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23042117 NCBI chr26:8,667,657...8,688,850
Ensembl chr26:8,667,655...8,688,824
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 chr10:89,637,176...89,644,436
Ensembl chr10:89,638,314...89,642,344
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 chr15:136,757...153,316
Ensembl chr15:150,718...151,785
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
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 chr26:8,753,236...8,759,378
Ensembl chr26:8,753,327...8,759,384
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 chr17:36,799,402...36,826,731
Ensembl chr17:36,799,370...36,826,405
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 5:3,310,853...3,352,483
Ensembl chr 5:3,310,824...3,339,870
JBrowse link
G DNASE1L3 deoxyribonuclease 1L3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22019780 NCBI chr22:19,487,767...19,496,019
Ensembl chr22:19,487,596...19,496,129
JBrowse link
G DNASE2 deoxyribonuclease 2, lysosomal ISO ClinVar Annotator: match by term: Systemic lupus erythematosus ClinVar NCBI chr 6:11,557,034...11,570,117
Ensembl chr 6:11,553,904...11,570,244
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 6:9,199,006...9,263,890
Ensembl chr 6:9,199,003...9,263,607
JBrowse link
G ELN elastin ISO RGD PMID:12643515 RGD:9585739 NCBI chr28:8,999,164...9,048,703 JBrowse link
G ENG endoglin ISO ClinVar Annotator: match by term: Systemic lupus erythematosus ClinVar PMID:9536098 PMID:17576681 PMID:28492532 PMID:32190976 NCBI chr12:10,274,705...10,315,715
Ensembl chr12:10,275,064...10,315,040
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 chr19:23,634,132...23,726,095
Ensembl chr19:23,634,571...23,724,979
JBrowse link
G EPOR erythropoietin receptor ISO RGD PMID:23151030 RGD:11041604 NCBI chr 6:10,313,382...10,320,196
Ensembl chr 6:10,313,775...10,320,066
JBrowse link
G ESR2 estrogen receptor 2 susceptibility ISO DNA:SNP: :rs4986938 (human)
DNA:repeats:intron:
mRNA:increased expression: :
mRNA:decreased expression:leukocyte,mononuclear
RGD PMID:17336162 PMID:17874259 PMID:20305046 PMID:20627037 PMID:20961965 RGD:5508738 RGD:5508813 RGD:5508817 RGD:5508843 RGD:5508844 NCBI chr24:41,426,333...41,513,802
Ensembl chr24:41,447,224...41,512,486
JBrowse link
G ETS1 ETS proto-oncogene 1, transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19838193 NCBI chr 1:119,588,476...119,736,623
Ensembl chr 1:119,588,448...119,652,299
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 chr 2:7,753,859...7,763,450
Ensembl chr 2:7,756,240...7,763,394
JBrowse link
G FCGR2A Fc fragment of IgG receptor IIa no_association
susceptibility
ISO DNA:polymorphism:cds:p.H131R (human)
protein:decreased expression:blood, monocyte
CTD Direct Evidence: marker/mechanism
DNA:SNP (human)
RGD
OMIM
CTD
PMID:8254199 PMID:11561111 PMID:14747618 PMID:17092257 PMID:17557887 More... RGD:5147916 RGD:5147926 RGD:5147972 RGD:5147973 RGD:5147976 RGD:5147979 RGD:5147984 NCBI chr20:2,480,710...2,512,429 JBrowse link
G FCGR3A Fc fragment of IgG receptor IIIa susceptibility ISO DNA:CNVs
DNA:SNPs:exon:rs403016,rs428888(human)
protein:decreased expression:NK cell
RGD PMID:18625651 PMID:21370226 PMID:25154742 RGD:11344974 RGD:5508389 RGD:5508444 NCBI chr20:2,466,492...2,475,579 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 chr20:65,422,668...65,425,845
Ensembl chr20:65,422,451...65,425,840
JBrowse link
G HSPD1 heat shock protein family D (Hsp60) member 1 ISO protein:increased expression:serum: RGD PMID:8255671 RGD:12910480 NCBI chr10:83,003,266...83,017,397
Ensembl chr10:83,003,717...83,017,363
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 chr10:47,676,799...47,732,310
Ensembl chr10:47,676,920...47,732,264
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 chr11:63,785,493...63,791,071
Ensembl chr11:63,786,041...63,790,473
JBrowse link
G IKZF1 IKAROS family zinc finger 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19838193 NCBI chr21:8,398,902...8,500,431
Ensembl chr21:8,402,719...8,484,723
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 chr16:66,302,107...66,399,152
Ensembl chr16:66,303,117...66,397,765
JBrowse link
G IL10 interleukin 10 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:12486603 PMID:19838195 PMID:20728533 RGD:1580478 NCBI chr25:22,590,389...22,595,877
Ensembl chr25:22,590,962...22,594,836
JBrowse link
G IL12B interleukin 12B ISO CTD Direct Evidence: marker/mechanism CTD PMID:19838195 PMID:26808113 NCBI chr23:61,714,293...61,731,835 JBrowse link
G IL13 interleukin 13 ISO protein:increased expression:serum RGD PMID:12051401 RGD:8549582 NCBI chr23:35,475,762...35,479,419
Ensembl chr23:35,476,490...35,478,869
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 chr17:20,314,082...20,319,917
Ensembl chr17:20,315,773...20,318,785
JBrowse link
G IL1B interleukin 1 beta ISO DNA:SNPs, haplotype:promoter:-511C>T, 3953C>T (human)
mRNA:increased expression:kidney (human)
RGD PMID:15470475 PMID:22660635 RGD:155663483 RGD:7401214 NCBI chr14:15,844,628...15,852,652
Ensembl chr14:15,844,672...15,850,729
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 NCBI chr14:16,136,667...16,152,451
Ensembl chr14:16,146,333...16,151,326
JBrowse link
G IL2 interleukin 2 ISO RGD PMID:6421522 RGD:8662948 NCBI chr 7:69,729,635...69,736,279
Ensembl chr 7:69,730,282...69,734,969
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 7:69,859,793...69,872,237
Ensembl chr 7:69,863,535...69,872,025
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 5:25,105,947...25,153,914
Ensembl chr 5:25,106,519...25,153,703
JBrowse link
G IL23R interleukin 23 receptor ISO protein:increased expression:T cell: RGD PMID:21110900 RGD:8549601 NCBI chr20:65,853,379...65,946,000
Ensembl chr20:65,854,349...65,938,024
JBrowse link
G IL4 interleukin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18158872 NCBI chr23:35,492,158...35,501,349
Ensembl chr23:35,492,939...35,501,258
JBrowse link
G IL5 interleukin 5 ISO RGD PMID:23054011 RGD:7241039 NCBI chr23:35,360,143...35,375,169
Ensembl chr23:35,360,506...35,362,178
JBrowse link
G IL6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18158872 NCBI chr21:35,577,513...35,582,385
Ensembl chr21:35,577,939...35,582,237
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 chr10:119,093,160...119,244,128
Ensembl chr10:119,093,781...119,244,123
JBrowse link
G IRAK4 interleukin 1 receptor associated kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28003376 NCBI chr11:39,967,738...39,999,969
Ensembl chr11:39,977,636...39,999,847
JBrowse link
G IRF5 interferon regulatory factor 5 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 chr21:97,536,803...97,549,576
Ensembl chr21:97,537,790...97,549,945
JBrowse link
G IRF8 interferon regulatory factor 8 susceptibility ISO DNA:SNP: (rs4843869) (human) RGD PMID:27021335 RGD:329961559 NCBI chr 5:71,301,878...71,325,622
Ensembl chr 5:71,302,233...71,325,613
JBrowse link
G ITGAM integrin subunit alpha M ISO CTD Direct Evidence: marker/mechanism CTD PMID:18204446 PMID:18204448 NCBI chr 5:27,957,162...28,042,697
Ensembl chr 5:27,957,324...28,042,691
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 chr20:68,122,134...68,253,361
Ensembl chr20:68,122,173...68,252,042
JBrowse link
G JAK2 Janus kinase 2 ISO RGD PMID:21880982 RGD:6483022 NCBI chr12:74,421,243...74,566,766
Ensembl chr12:74,421,016...74,566,710
JBrowse link
G JAZF1 JAZF zinc finger 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19838195 NCBI chr21:30,190,380...30,539,062 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 6:11,479,108...11,480,942
Ensembl chr 6:11,479,407...11,480,450
JBrowse link
G KLKB1 kallikrein B1 susceptibility ISO DNA:SNPs:promoter: RGD PMID:19307730 RGD:7327150 NCBI chr 7:132,143,514...132,173,189
Ensembl chr 7:132,144,420...132,173,187
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 chr25:4,326,872...4,353,208
Ensembl chr25:4,330,849...4,351,401
JBrowse link
G LDLR low density lipoprotein receptor ISO mRNA:decreased expression:leukocyte RGD PMID:19811272 RGD:5490253 NCBI chr 6:10,062,204...10,091,780
Ensembl chr 6:10,062,790...10,091,377
JBrowse link
G LOC103217855 C-X-C chemokine receptor type 2 severity ISO RGD PMID:14596426 RGD:7257684 NCBI chr10:104,012,906...104,025,599
Ensembl chr10:104,022,811...104,023,893
JBrowse link
G LOC103221744 heat shock 70 kDa protein 1-like ISO DNA:SNPs: :rs2075800, rs2227956 (human) RGD PMID:20498198 RGD:5147600 NCBI chr17:40,206,365...40,211,996
Ensembl chr17:40,209,754...40,211,676
JBrowse link
G LOC103221745 heat shock 70 kDa protein 1A ISO DNA:SNP: :rs1043618 (human) RGD PMID:20498198 RGD:5147600 NCBI chr17:40,203,647...40,206,028
Ensembl chr17:40,203,936...40,205,858
JBrowse link
G LOC103223672 low affinity immunoglobulin gamma Fc region receptor II-b treatment
severity
no_association
susceptibility
ISO DNA:SNP:intron:11045G>T (rs12117530) (human)
DNA:SNPs:exon, intron:10849T>C (rs1050501), 10950T>G (rs6666965) (human)
ClinVar Annotator: match by term: Systemic lupus erythematosus, susceptibility to
DNA:snps, haplotype:promoter:g.-386G>C, g.-120T>A (human)
DNA:snp:promoter:g.-386G>C (rs3219018) (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 chr20:2,398,425...2,413,328 JBrowse link
G LOC103224275 glutathione S-transferase Mu 1 susceptibility ISO DNA:deletion: : RGD PMID:20226777 RGD:5490989 NCBI chr20:23,854,969...23,861,634 JBrowse link
G LOC103230557 roquin-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 chr25:55,167,418...55,258,964
Ensembl chr25:55,167,077...55,279,088
JBrowse link
G LPA lipoprotein(a) ISO protein:increased ezpression:serum RGD PMID:20026018 RGD:5509911 NCBI chr13:88,077,041...88,337,256 JBrowse link
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 8:51,919,656...52,057,376
Ensembl chr 8:51,919,808...52,057,959
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 chr23:13,094,383...13,268,286
Ensembl chr23:13,094,538...13,268,283
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 chr 9:78,389,534...78,394,753
Ensembl chr 9:78,389,947...78,396,079
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 5:2,971,323...2,991,501 JBrowse link
G MHC-DQA1 major histocompatibility complex, class II, DQ alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11436868 NCBI chr17:39,422,445...39,428,777
Ensembl chr17:39,420,134...39,428,871
JBrowse link
G MKI67 marker of proliferation Ki-67 ISO RGD PMID:21693493 RGD:6483529 NCBI chr 9:120,697,183...120,727,039
Ensembl chr 9:120,698,834...120,726,866
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 chr16:37,951,329...37,980,527
Ensembl chr16:37,951,372...37,980,714
JBrowse link
G MMP1 matrix metallopeptidase 1 ISO protein:increased expression:plasma (human) RGD PMID:9972954 RGD:7207129 NCBI chr 1:94,167,507...94,177,357
Ensembl chr 1:94,167,219...94,176,767
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 1:11,303,145...11,311,792
Ensembl chr 1:11,303,494...11,311,379
JBrowse link
G NAT2 N-acetyltransferase 2 susceptibility ISO DNA:polymorphism: : RGD PMID:10599336 RGD:5147680 NCBI chr 8:16,451,144...16,494,961
Ensembl chr 8:16,493,749...16,494,621
JBrowse link
G NCF1 neutrophil cytosolic factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28135245 NCBI chr28:8,334,172...8,349,828
Ensembl chr28:8,332,772...8,349,804
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 5:36,492,158...36,531,766
Ensembl chr 5:36,496,414...36,530,499
JBrowse link
G NOS2 nitric oxide synthase 2 ISO mRNA:increased expression:bone marrow macrophage (mouse) RGD PMID:22011580 RGD:5508848 NCBI chr16:21,533,011...21,576,645
Ensembl chr16:21,533,484...21,574,257
JBrowse link
G P2RY12 purinergic receptor P2Y12 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:15304052 RGD:6480537 NCBI chr15:39,315,140...39,361,614
Ensembl chr15:39,359,612...39,360,637
JBrowse link
G PARP1 poly(ADP-ribose) polymerase 1 ISO RGD PMID:17182544 RGD:11074797 NCBI chr25:3,350,798...3,405,040 JBrowse link
G PCNX3 pecanex 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26808113 NCBI chr 1:8,601,944...8,625,289
Ensembl chr 1:8,601,805...8,624,394
JBrowse link
G PDCD1 programmed cell death 1 ISO DNA:polymorphism: : 7,146 G>A (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
RGD
MouseDO
PMID:17228327 PMID:19116915 RGD:7248674 RGD:7248679 NCBI chr10:127,877,383...127,886,234
Ensembl chr10:127,878,554...127,886,088
JBrowse link
G PGF placental growth factor ISO protein:increased expression:serum RGD PMID:19276301 RGD:6483612 NCBI chr24:52,160,904...52,174,493
Ensembl chr24:52,161,787...52,173,989
JBrowse link
G PHRF1 PHD and ring finger domains 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18204446 NCBI chr 1:391,692...429,982
Ensembl chr 1:397,520...429,668
JBrowse link
G PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma ISO RGD PMID:16365454 RGD:6482698 NCBI chr21:75,781,812...75,823,404
Ensembl chr21:75,784,648...75,825,496
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 NCBI chr24:82,848,775...82,857,359
Ensembl chr24:82,851,238...82,857,579
JBrowse link
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 chr 8:40,332,165...40,368,065
Ensembl chr 8:40,332,208...40,372,582
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 chr22:48,262,743...48,407,415
Ensembl chr22:48,275,600...48,407,418
JBrowse link
G PPP2R2B protein phosphatase 2 regulatory subunit Bbeta ISO RGD PMID:21746932 RGD:5686291 NCBI chr23:49,164,026...49,645,347 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 chr13:67,695,436...67,719,487
Ensembl chr13:67,695,309...67,718,931
JBrowse link
G PRF1 perforin 1 severity ISO RGD PMID:21906646 RGD:6482798 NCBI chr 9:60,692,544...60,698,000
Ensembl chr 9:60,692,600...60,698,465
JBrowse link
G PRL prolactin ISO CTD Direct Evidence: marker/mechanism CTD PMID:14870917 NCBI chr17:49,922,750...49,938,084
Ensembl chr17:49,928,321...49,938,631
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17761345 NCBI chr25:42,733,535...42,742,463
Ensembl chr25:42,734,771...42,742,429
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 chr20:19,792,807...19,855,784
Ensembl chr20:19,793,083...19,855,827
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 chr25:30,655,014...30,777,367
Ensembl chr25:30,653,044...30,777,303
JBrowse link
G PXK PX domain containing serine/threonine kinase like ISO CTD Direct Evidence: marker/mechanism CTD PMID:18204446 NCBI chr22:19,622,364...19,717,245
Ensembl chr22:19,622,402...19,711,127
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 chr26:44,405,007...44,483,291 JBrowse link
G RASGRP3 RAS guanyl releasing protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19838193 NCBI chr14:73,871,343...73,950,119
Ensembl chr14:73,895,534...73,946,358
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 chr25:22,775,917...22,854,739
Ensembl chr25:22,774,661...22,807,353
JBrowse link
G RETN resistin ISO RGD PMID:21885493 RGD:7207148 NCBI chr 6:7,154,771...7,156,459
Ensembl chr 6:7,155,337...7,156,505
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 chr25:36,339,236...36,364,066
Ensembl chr25:36,340,487...36,363,637
JBrowse link
G RPL12 ribosomal protein L12 ISO RGD PMID:11161982 RGD:11035232 NCBI chr12:10,677,061...10,681,041 JBrowse link
G RPL14 ribosomal protein L14 ISO RGD PMID:12051391 RGD:11036103 NCBI chr22:1,949,789...1,954,518
Ensembl chr22:1,949,817...1,954,466
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 chr15:91,401,565...91,468,837
Ensembl chr15:91,400,031...91,457,933
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 chr12:3,704,129...3,814,707
Ensembl chr12:3,699,923...3,814,678
JBrowse link
G SELL selectin L ISO RGD PMID:20512127 RGD:7175284 NCBI chr25:59,345,080...59,365,684
Ensembl chr25:59,345,069...59,366,946
JBrowse link
G SFTPD surfactant protein D ISO protein:decreased expression:serum RGD PMID:19833760 RGD:4143493 NCBI chr 9:51,809,241...51,820,974
Ensembl chr 9:51,811,052...51,820,650
JBrowse link
G SH2B3 SH2B adaptor protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19838195 NCBI chr11:106,657,601...106,703,940
Ensembl chr11:106,670,685...106,700,619
JBrowse link
G SIGLEC6 sialic acid binding Ig like lectin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26808113 NCBI chr 6:44,367,499...44,405,288
Ensembl chr 6:44,367,624...44,382,790
JBrowse link
G SLC11A1 solute carrier family 11 member 1 ISO DNA:deletion:3' utr: (human) RGD PMID:21233146 RGD:5684928 NCBI chr10:104,276,553...104,288,466 JBrowse link
G SLC15A4 solute carrier family 15 member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19838193 NCBI chr11:124,170,785...124,204,358
Ensembl chr11:124,169,732...124,204,200
JBrowse link
G SNRNP70 small nuclear ribonucleoprotein U1 subunit 70 ISO RGD PMID:10940910 PMID:22454191 RGD:10448935 RGD:10448939 NCBI chr 6:42,305,961...42,329,289
Ensembl chr 6:42,305,687...42,330,332
JBrowse link
G SNRPC small nuclear ribonucleoprotein polypeptide C ISO RGD PMID:8647956 RGD:10766446 NCBI chr17:37,332,697...37,348,968
Ensembl chr17:37,332,687...37,349,133
JBrowse link
G SNRPD1 small nuclear ribonucleoprotein D1 polypeptide severity ISO mouse model RGD PMID:12571858 RGD:10755713 NCBI chr18:58,860,447...58,876,216
Ensembl chr18:58,858,822...58,876,198
JBrowse link
G SNRPD2 small nuclear ribonucleoprotein D2 polypeptide ISO RGD PMID:11823543 RGD:10766471 NCBI chr 6:39,127,974...39,134,771
Ensembl chr 6:39,127,877...39,134,626
JBrowse link
G SNRPD3 small nuclear ribonucleoprotein D3 polypeptide ISO RGD PMID:17640359 RGD:10755704 NCBI chr19:7,560,946...7,577,338
Ensembl chr19:7,417,483...7,577,914
JBrowse link
G SOCS1 suppressor of cytokine signaling 1 ISO ClinVar Annotator: match by term: Systemic lupus erythematosus ClinVar PMID:33087723 NCBI chr 5:10,731,866...10,733,745
Ensembl chr 5:10,732,350...10,732,991
JBrowse link
G SOD2 superoxide dismutase 2 ISO DNA:SNP, haplotype: :1183C>T (human) RGD PMID:14611903 RGD:1581249 NCBI chr13:87,284,537...87,297,998
Ensembl chr13:87,280,686...87,297,974
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 chr10:76,553,626...76,708,540
Ensembl chr10:76,553,606...76,674,928
JBrowse link
G SYNGR1 synaptogyrin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26808113 NCBI chr19:21,924,110...21,957,453
Ensembl chr19:21,924,174...21,953,808
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 chr13:22,234,736...22,312,985
Ensembl chr13:22,234,012...22,282,562
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:29,256,176...29,318,129
Ensembl chr  X:29,256,104...29,288,960
JBrowse link
G TAP1 transporter 1, ATP binding cassette subfamily B member no_association ISO RGD PMID:9014588 RGD:6482277 NCBI chr17:39,252,000...39,260,195 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 chr17:39,266,870...39,277,658 JBrowse link
G TCF7 transcription factor 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26808113 NCBI chr23:36,919,648...36,953,088
Ensembl chr23:36,919,745...36,951,192
JBrowse link
G TERT telomerase reverse transcriptase ISO CTD Direct Evidence: marker/mechanism CTD PMID:26808113 NCBI chr 4:1,082,894...1,119,373
Ensembl chr 4:1,083,384...1,117,468
JBrowse link
G TFPI tissue factor pathway inhibitor ISO protein:decreased expression:plasma: RGD PMID:11709459 RGD:11060258 NCBI chr10:73,004,762...73,105,772
Ensembl chr10:73,002,522...73,105,858
JBrowse link
G THBD thrombomodulin ISO protein:increased expression:serum RGD PMID:18484695 RGD:5684995 NCBI chr 2:52,041,950...52,045,946
Ensembl chr 2:52,043,746...52,045,626
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 chr23:59,320,120...59,381,965
Ensembl chr23:59,319,749...59,355,100
JBrowse link
G TLR4 toll like receptor 4 ISO RGD PMID:19841185 RGD:7241088 NCBI chr12:21,873,762...21,885,562
Ensembl chr12:21,871,773...21,885,515
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 chr25:6,418,895...6,440,433
Ensembl chr25:6,437,638...6,440,211
JBrowse link
G TLR7 toll like receptor 7 ISO ClinVar Annotator: match by term: Systemic lupus erythematosus ClinVar PMID:35477763 NCBI chr  X:11,348,520...11,372,132 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...
G TNFAIP3 TNF alpha induced protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19165918 PMID:19165919 PMID:19838193 PMID:21336280 NCBI chr13:35,537,103...35,553,396
Ensembl chr13:35,537,102...35,549,197
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 chr16:15,980,927...16,012,572
Ensembl chr16:15,981,392...15,993,593
JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A severity ISO protein:increased expression:serum RGD PMID:8393677 RGD:7245539 NCBI chr11:6,364,544...6,378,880
Ensembl chr11:6,364,330...6,378,902
JBrowse link
G TNFRSF1B TNF receptor superfamily member 1B severity
no_association
ISO protein:increased expression:serum
DNA:missense mutation:cds:p.M196R (human)
RGD PMID:8393677 PMID:11607787 RGD:7245539 RGD:7245571 NCBI chr20:119,590,621...119,633,562
Ensembl chr20:119,590,325...119,633,497
JBrowse link
G TNFSF4 TNF superfamily member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18059267 PMID:19838193 NCBI chr25:55,714,291...55,998,009
Ensembl chr25:55,974,691...55,997,374
JBrowse link
G TNIP1 TNFAIP3 interacting protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19838193 PMID:19838195 NCBI chr23:53,586,243...53,643,599
Ensembl chr23:53,587,008...53,621,489
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 chr13:62,272,893...62,320,096
Ensembl chr13:62,285,589...62,324,312
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 chr22:9,869,502...9,871,659 JBrowse link
G VCAM1 vascular cell adhesion molecule 1 severity ISO RGD PMID:18693542 RGD:7241211 NCBI chr20:32,616,425...32,635,903
Ensembl chr20:32,615,333...32,635,862
JBrowse link
G VIM vimentin ISO RGD PMID:3780056 RGD:6480476 NCBI chr 9:17,183,466...17,191,771
Ensembl chr 9:17,183,388...17,191,829
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 chr22:19,487,767...19,496,019
Ensembl chr22:19,487,596...19,496,129
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:11,348,520...11,372,132 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15420
    disease of anatomical entity 15083
      musculoskeletal system disease 7850
        autoimmune disease of musculoskeletal system 891
          lupus erythematosus 204
            cutaneous lupus erythematosus + 15
            drug-induced lupus erythematosus 0
            systemic lupus erythematosus + 198
Path 2
Term Annotations click to browse term
  disease 15420
    disease of anatomical entity 15083
      Immune & Inflammatory Diseases 5133
        immune system disease 4606
          primary immunodeficiency disease 4047
            autoimmune disease 2039
              autoimmune disease of musculoskeletal system 891
                lupus erythematosus 204
                  cutaneous lupus erythematosus + 15
                  drug-induced lupus erythematosus 0
                  systemic lupus erythematosus + 198
paths to the root