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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 CD1D CD1d molecule ameliorates ISO RGD PMID:14561706 RGD:127345108 NCBI chr 1:158,178,030...158,186,427
Ensembl chr 1:158,178,030...158,186,427
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 IAGP ClinVar Annotator: match by term: C1Q deficiency ClinVar PMID:7594474 PMID:8840296 PMID:9225968 PMID:9590289 PMID:21654842 More... NCBI chr 1:22,636,463...22,639,678
Ensembl chr 1:22,635,077...22,639,678
JBrowse link
G C1QB complement C1q B chain IAGP ClinVar Annotator: match by term: C1Q deficiency ClinVar PMID:17513176 PMID:21654842 PMID:25741868 PMID:28492532 NCBI chr 1:22,653,236...22,661,637
Ensembl chr 1:22,652,762...22,661,637
JBrowse link
G C1QC complement C1q C chain IAGP ClinVar Annotator: match by term: C1Q deficiency ClinVar PMID:7029321 PMID:7900940 PMID:8630118 PMID:20635792 PMID:21654842 More... NCBI chr 1:22,643,633...22,648,108
Ensembl chr 1:22,643,014...22,648,110
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 IAGP ClinVar Annotator: match by term: C1QA-related condition
ClinVar Annotator: match by term: C1Q deficiency 1
OMIM
ClinVar
PMID:25741868 PMID:28492532 NCBI chr 1:22,636,463...22,639,678
Ensembl chr 1:22,635,077...22,639,678
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 IAGP ClinVar Annotator: match by term: C1Q deficiency 2
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 1:22,653,236...22,661,637
Ensembl chr 1:22,652,762...22,661,637
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 IAGP ClinVar Annotator: match by term: C1QC-related condition
ClinVar Annotator: match by term: C1Q deficiency 3
OMIM
ClinVar
PMID:7029321 PMID:8630118 PMID:24157463 PMID:28492532 NCBI chr 1:22,643,633...22,648,108
Ensembl chr 1:22,643,014...22,648,110
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 IAGP ClinVar Annotator: match by term: Chilblain lupus ClinVar PMID:16960810 PMID:17357087 PMID:17440703 PMID:18805785 PMID:20799324 More... NCBI chr 3:48,446,779...48,467,645
Ensembl chr 3:48,446,710...48,467,645
JBrowse link
G ATRIP ATR interacting protein IAGP ClinVar Annotator: match by term: Chilblain lupus ClinVar PMID:16960810 PMID:17357087 PMID:17440703 PMID:18805785 PMID:20799324 More... NCBI chr 3:48,446,737...48,467,645
Ensembl chr 3:48,446,710...48,467,645
JBrowse link
G TREX1 three prime repair exonuclease 1 IAGP ClinVar Annotator: match by term: Chilblain lupus ClinVar PMID:16960810 PMID:17357087 PMID:17440703 PMID:18805785 PMID:20799324 More... NCBI chr 3:48,465,830...48,467,645
Ensembl chr 3:48,465,811...48,467,645
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 IAGP ClinVar Annotator: match by term: Chilblain lupus 1 ClinVar PMID:16845398 PMID:17293595 PMID:17357087 PMID:17660818 PMID:17660820 More... NCBI chr 3:48,446,779...48,467,645
Ensembl chr 3:48,446,710...48,467,645
JBrowse link
G ATRIP ATR interacting protein IAGP ClinVar Annotator: match by term: Chilblain lupus 1 ClinVar PMID:16845398 PMID:17293595 PMID:17357087 PMID:17660818 PMID:17660820 More... NCBI chr 3:48,446,737...48,467,645
Ensembl chr 3:48,446,710...48,467,645
JBrowse link
G SAMHD1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27566796 NCBI chr20:36,889,773...36,951,708
Ensembl chr20:36,890,229...36,951,893
JBrowse link
G STING1 stimulator of interferon response cGAMP interactor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27566796 NCBI chr 5:139,475,533...139,482,758
Ensembl chr 5:139,475,533...139,482,935
JBrowse link
G TREX1 three prime repair exonuclease 1 EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Chilblain lupus 1
CTD
OMIM
ClinVar
PMID:16845398 PMID:17293595 PMID:17357087 PMID:17660818 PMID:17660820 More... NCBI chr 3:48,465,830...48,467,645
Ensembl chr 3:48,465,811...48,467,645
JBrowse link
Chilblain Lupus 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC130065805 ATAC-STARR-seq lymphoblastoid silent region 12883 IAGP ClinVar Annotator: match by term: Chilblain lupus 2 ClinVar PMID:25741868 NCBI chr20:36,951,203...36,951,422 JBrowse link
G SAMHD1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 IAGP ClinVar Annotator: match by term: SAMHD1-related condition
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 chr20:36,889,773...36,951,708
Ensembl chr20:36,890,229...36,951,893
JBrowse link
G TLDC2 TBC/LysM-associated domain containing 2 IAGP ClinVar Annotator: match by term: Chilblain lupus 2
ClinVar Annotator: match by term: SAMHD1-related condition
ClinVar PMID:25741868 PMID:28492532 NCBI chr20:36,876,121...36,894,235
Ensembl chr20:36,876,121...36,894,235
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 IEP RGD PMID:21844117 RGD:6892918 NCBI chr 3:46,210,696...46,266,706
Ensembl chr 3:46,130,890...46,266,706
JBrowse link
G CD40 CD40 molecule IEP RGD PMID:18050371 RGD:8547765 NCBI chr20:46,118,314...46,129,858
Ensembl chr20:46,118,271...46,129,863
JBrowse link
G CD40LG CD40 ligand IEP RGD PMID:18050371 RGD:8547765 NCBI chr  X:136,648,158...136,660,390
Ensembl chr  X:136,648,158...136,660,390
JBrowse link
G CSF1 colony stimulating factor 1 ISO RGD PMID:18981160 RGD:7257572 NCBI chr 1:109,910,506...109,930,992
Ensembl chr 1:109,910,242...109,930,992
JBrowse link
G IL17A interleukin 17A IEP protein:increased expression:epidermis (human) RGD PMID:20493423 RGD:8698667 NCBI chr 6:52,186,375...52,190,638
Ensembl chr 6:52,186,375...52,190,638
JBrowse link
G TREX1 three prime repair exonuclease 1 ISS MouseDO NCBI chr 3:48,465,830...48,467,645
Ensembl chr 3:48,465,811...48,467,645
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 IDA RGD PMID:20701627 RGD:7421565 NCBI chr 9:73,151,865...73,170,393
Ensembl chr 9:73,151,865...73,170,629
JBrowse link
G CD40 CD40 molecule IEP RGD PMID:18050371 RGD:8547765 NCBI chr20:46,118,314...46,129,858
Ensembl chr20:46,118,271...46,129,863
JBrowse link
G CD40LG CD40 ligand IEP RGD PMID:18050371 RGD:8547765 NCBI chr  X:136,648,158...136,660,390
Ensembl chr  X:136,648,158...136,660,390
JBrowse link
G HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 susceptibility IAGP DNA:polymorphism: :HLA-DQA1*0102 RGD PMID:7883595 RGD:8547567 NCBI chr 6:32,637,406...32,655,272
Ensembl chr 6:32,628,179...32,647,062
JBrowse link
G IL17A interleukin 17A IEP protein:increased expression:epidermis (human) RGD PMID:20493423 RGD:8698667 NCBI chr 6:52,186,375...52,190,638
Ensembl chr 6:52,186,375...52,190,638
JBrowse link
G NAT2 N-acetyltransferase 2 treatment IAGP DNA:polymorphisms: : RGD PMID:9170150 RGD:8552671 NCBI chr 8:18,386,301...18,401,218
Ensembl chr 8:18,391,282...18,401,218
JBrowse link
G OGG1 8-oxoguanine DNA glycosylase EXP CTD Direct Evidence: marker/mechanism CTD PMID:33072095 NCBI chr 3:9,749,952...9,783,108
Ensembl chr 3:9,749,944...9,788,219
JBrowse link
G TRAF3IP2 TRAF3 interacting protein 2 IAGP ClinVar Annotator: match by term: Discoid lupus erythematosus ClinVar PMID:25741868 NCBI chr 6:111,555,381...111,605,878
Ensembl chr 6:111,555,381...111,606,906
JBrowse link
G TRAF3IP2-AS1 TRAF3IP2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Discoid lupus erythematosus ClinVar PMID:25741868 NCBI chr 6:111,483,472...111,602,295
Ensembl chr 6:111,483,389...111,598,784
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 IAGP DNA:polymorphisms:promoter, intron:g.-429T>C rs1800625, g.-374T>A rs1800624, g.2184A>G rs3134940 (human) RGD PMID:22513366 RGD:6767309 NCBI chr 6:32,180,969...32,184,253
Ensembl chr 6:32,180,968...32,184,322
JBrowse link
G APOC3 apolipoprotein C3 IEP protein:increased expression:serum RGD PMID:17957542 RGD:7207211 NCBI chr11:116,829,907...116,833,072
Ensembl chr11:116,829,706...116,833,072
JBrowse link
G C3 complement C3 IEP
EXP
protein:decreased expression:serum
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:31182691 PMID:21888025 RGD:7175544 NCBI chr19:6,677,704...6,720,650
Ensembl chr19:6,677,704...6,730,562
JBrowse link
G CCL2 C-C motif chemokine ligand 2 severity
susceptibility
IEP
IAGP
protein:increased expression:urine (human)
DNA:snp:promoter:g.-2518A>G (human)
RGD PMID:8558841 PMID:15188361 RGD:8549732, RGD:11528534 NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208
JBrowse link
G CCL3 C-C motif chemokine ligand 3 ISO RGD PMID:18187931 RGD:7241814 NCBI chr17:36,088,256...36,090,143
Ensembl chr17:36,088,256...36,090,169
JBrowse link
G CCR1 C-C motif chemokine receptor 1 disease_progression ISO RGD PMID:15153561 RGD:5688164 NCBI chr 3:46,201,711...46,208,313
Ensembl chr 3:46,201,711...46,208,313
JBrowse link
G CD40 CD40 molecule treatment ISO RGD PMID:23799000 PMID:18566369 PMID:19265127 RGD:7248418, RGD:7248429, RGD:7248425 NCBI chr20:46,118,314...46,129,858
Ensembl chr20:46,118,271...46,129,863
JBrowse link
G CD40LG CD40 ligand treatment IEP
ISO
IMP
IDA
protein:increased expression:serum RGD PMID:20726330 PMID:11751940 PMID:12632425 PMID:13130474 PMID:15693003 RGD:7248426, RGD:7248714, RGD:7248710, RGD:7248600, RGD:7248439 NCBI chr  X:136,648,158...136,660,390
Ensembl chr  X:136,648,158...136,660,390
JBrowse link
G CFB complement factor B ISO
IEP
RGD PMID:10623824 PMID:3183062 PMID:21893562 RGD:7242736, RGD:7242763, RGD:7242755 NCBI chr 6:31,946,095...31,952,084
Ensembl chr 6:31,945,650...31,952,086
JBrowse link
G CFH complement factor H IAGP RGD PMID:22171659 RGD:5684551 NCBI chr 1:196,652,043...196,747,504
Ensembl chr 1:196,651,754...196,752,476
JBrowse link
G CLU clusterin ISO mRNA:increased expression: epithelial cell of renal tubule RGD PMID:9546356 RGD:8890679 NCBI chr 8:27,596,917...27,614,700
Ensembl chr 8:27,596,917...27,614,700
JBrowse link
G COL1A1 collagen type I alpha 1 chain IEP
ISO
associated with Graft vs Host Disease
mRNA, protein:increased expression:kidney cortex
RGD PMID:21354048 PMID:7700025 PMID:7723234 RGD:5688301, RGD:5688333, RGD:5688332 NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632
JBrowse link
G CRP C-reactive protein no_association IDA
IAGP
DNA:SNP RGD PMID:18852001 PMID:17596285 PMID:20039408 PMID:15692982 RGD:6907400, RGD:5508454, RGD:6909146, RGD:6909145 NCBI chr 1:159,712,289...159,714,589
Ensembl chr 1:159,712,289...159,714,589
JBrowse link
G CSF1 colony stimulating factor 1 ISO
IEP
RGD PMID:21885670 PMID:17659436 RGD:7257567, RGD:7257589 NCBI chr 1:109,910,506...109,930,992
Ensembl chr 1:109,910,242...109,930,992
JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 IDA RGD PMID:15146424 RGD:7204726 NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965
JBrowse link
G EGF epidermal growth factor IEP RGD PMID:21354048 RGD:5688301 NCBI chr 4:109,912,883...110,013,766
Ensembl chr 4:109,912,883...110,013,766
JBrowse link
G FAS Fas cell surface death receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:33632240 PMID:38555047 NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605
JBrowse link
G FCGR2A Fc gamma receptor IIa IAGP DNA:missense mutation:cds:p.H131R (human)
ClinVar Annotator: match by term: Lupus nephritis, susceptibility to
ClinVar
RGD
PMID:8636449 PMID:9843982 PMID:10675363 PMID:15367919 PMID:19915573 More... RGD:5147975 NCBI chr 1:161,505,457...161,524,048
Ensembl chr 1:161,505,430...161,524,013
JBrowse link
G FCGR2B Fc gamma receptor IIb ISO RGD PMID:15681388 RGD:7240529 NCBI chr 1:161,647,243...161,678,654
Ensembl chr 1:161,663,143...161,678,654
JBrowse link
G FCGR3A Fc gamma receptor IIIa susceptibility IAGP DNA:SNP:cds:p.V158F (human) RGD PMID:17596285 RGD:5508454 NCBI chr 1:161,541,759...161,550,737
Ensembl chr 1:161,541,759...161,550,968
JBrowse link
G FCGR3B Fc gamma receptor IIIb EXP CTD Direct Evidence: marker/mechanism CTD PMID:16482158 NCBI chr 1:161,623,196...161,631,963
Ensembl chr 1:161,623,196...161,631,963
JBrowse link
G HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 susceptibility IAGP DNA:polymorphisms:cds:HLA-DQA1*0101 (human)
DNA:polymorphisms:cds:HLA-DQA1*0102 (human)
RGD PMID:12651073 PMID:12651073 RGD:40902999, RGD:40902999 NCBI chr 6:32,637,406...32,655,272
Ensembl chr 6:32,628,179...32,647,062
JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 susceptibility IAGP DNA:polymorphisms:cds:HLA-DRB1*1501 (human) RGD PMID:12651073 RGD:40902999 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848
JBrowse link
G IFNG interferon gamma IEP
EXP
IDA
protein:increased expression:serum,urine
CTD Direct Evidence: marker/mechanism
protein:increased processing:kidney
CTD
RGD
PMID:31182691 PMID:22764573 PMID:29925830 RGD:6893369, RGD:14974252 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
JBrowse link
G IL17A interleukin 17A treatment ISO RGD PMID:25129462 RGD:9244623 NCBI chr 6:52,186,375...52,190,638
Ensembl chr 6:52,186,375...52,190,638
JBrowse link
G IL18 interleukin 18 ISO RGD PMID:20980973 RGD:6893449 NCBI chr11:112,143,260...112,164,094
Ensembl chr11:112,143,251...112,164,096
JBrowse link
G IL1B interleukin 1 beta ISO mRNA:increased expression:renal glomerulus (mouse) RGD PMID:21641991 PMID:20410215 RGD:7175315, RGD:7175344 NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816
JBrowse link
G IL1RN interleukin 1 receptor antagonist resistance IEP associated with Lupus Erythematosus, Systemic; protein:increased expression:serum (human) RGD PMID:20538031 RGD:6907068 NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016
JBrowse link
G ITGAM integrin subunit alpha M IAGP RGD PMID:21719445 RGD:5147916 NCBI chr16:31,259,975...31,332,877
Ensembl chr16:31,259,967...31,332,892
JBrowse link
G JAK1 Janus kinase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:31182691 NCBI chr 1:64,833,229...65,067,746
Ensembl chr 1:64,833,223...65,067,754
JBrowse link
G KLKB1 kallikrein B1 susceptibility IAGP DNA:SNPs:promoter: RGD PMID:19307730 RGD:7327150 NCBI chr 4:186,210,853...186,258,471
Ensembl chr 4:186,226,438...186,258,471
JBrowse link
G MBL2 mannose binding lectin 2 disease_progression IAGP DNA:polymorphism:exon: RGD PMID:24850777 RGD:12910847 NCBI chr10:52,765,380...52,772,784
Ensembl chr10:52,765,380...52,772,784
JBrowse link
G MIR125A microRNA 125a ISO RNA:decreased expression:kidney RGD PMID:30972208 RGD:26884458 NCBI chr19:51,693,254...51,693,339
Ensembl chr19:51,693,254...51,693,339
JBrowse link
G MMP2 matrix metallopeptidase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22479529 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691
JBrowse link
G MMP9 matrix metallopeptidase 9 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22479529 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
JBrowse link
G MPO myeloperoxidase susceptibility IAGP DNA:polymorphism: :−463G > A (human) RGD PMID:17896805 RGD:7174701 NCBI chr17:58,269,855...58,280,935
Ensembl chr17:58,269,855...58,280,935
JBrowse link
G MTOR mechanistic target of rapamycin kinase ISO RGD PMID:17283580 RGD:7245502 NCBI chr 1:11,106,535...11,262,551
Ensembl chr 1:11,106,535...11,262,556
JBrowse link
G MUC20 mucin 20, cell surface associated ISO RGD PMID:14565953 RGD:7364790 NCBI chr 3:195,720,978...195,733,551
Ensembl chr 3:195,720,884...195,741,123
JBrowse link
G NR3C1 nuclear receptor subfamily 3 group C member 1 ISO
IEP
RGD PMID:21509671 PMID:17880936 RGD:7174713, RGD:7174734 NCBI chr 5:143,277,931...143,435,512
Ensembl chr 5:143,277,931...143,435,512
JBrowse link
G OTUB1 OTU deubiquitinase, ubiquitin aldehyde binding 1 IEP protein:increased expression:kidney RGD PMID:22279542 RGD:7175260 NCBI chr11:63,986,438...63,998,412
Ensembl chr11:63,985,853...64,001,811
JBrowse link
G PDCD1 programmed cell death 1 onset IAGP
ISO
DNA:polymorphism: :
DNA:polymorphism:intron:6867 C>T (human)
RGD PMID:15934088 PMID:21041733 PMID:15352422 RGD:7248675, RGD:7248678, RGD:7248676 NCBI chr 2:241,849,884...241,858,894
Ensembl chr 2:241,849,884...241,858,894
JBrowse link
G SELL selectin L ISO RGD PMID:20512127 RGD:7175284 NCBI chr 1:169,690,667...169,711,620
Ensembl chr 1:169,690,665...169,711,702
JBrowse link
G SERPING1 serpin family G member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:4014294 NCBI chr11:57,597,685...57,614,848
Ensembl chr11:57,597,387...57,619,171
JBrowse link
G SNRPE small nuclear ribonucleoprotein polypeptide E treatment IDA mouse model RGD PMID:15494537 RGD:10760401 NCBI chr 1:203,861,599...203,871,152
Ensembl chr 1:203,861,599...203,871,152
JBrowse link
G STAT1 signal transducer and activator of transcription 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:31182691 NCBI chr 2:190,969,149...191,014,171
Ensembl chr 2:190,908,460...191,020,960
JBrowse link
G STAT4 signal transducer and activator of transcription 4 ISO RGD PMID:20980973 RGD:6893449 NCBI chr 2:191,029,576...191,151,596
Ensembl chr 2:191,029,576...191,178,435
JBrowse link
G STAT6 signal transducer and activator of transcription 6 disease_progression ISO RGD PMID:12874250 RGD:7244140 NCBI chr12:57,095,408...57,111,362
Ensembl chr12:57,095,408...57,132,139
JBrowse link
G TLR7 toll like receptor 7 ISO RGD PMID:19944565 RGD:7246905 NCBI chr  X:12,867,072...12,890,361
Ensembl chr  X:12,867,072...12,890,361
JBrowse link
G TLR9 toll like receptor 9 severity
treatment
no_association
ISO
IEP
IAGP
mRNA, protein:increased expression:kidney (mouse)
associated with Graft vs Host Disease
protein:increased expression:renal glomerulus (human)
associated with Lupus Erythematosus, Systemic; DNA:snps:promoter, intron:g.-1486T>C, g.+1174A>G (rs187084, rs352139) (human, North Indian)
DNA:snps:intron, exon:g.+1174G>A, g.+1635C>T (rs352139, rs352140) (human, Chinese)
RGD PMID:23467932 PMID:17469139 PMID:21127878 PMID:19578108 PMID:22787315 More... RGD:7245987, RGD:7246911, RGD:7246897, RGD:7246896, RGD:7245989, RGD:7246884 NCBI chr 3:52,221,080...52,225,645
Ensembl chr 3:52,221,080...52,225,645
JBrowse link
G TNF tumor necrosis factor IEP protein:increased expression:glomerular mesangial cell RGD PMID:7750940 RGD:7394786 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
JBrowse link
G TNFRSF11B TNF receptor superfamily member 11b IEP associated with Lupus Erythematosus, Systemic;protein:increased expression:urine RGD PMID:21691937 RGD:7205483 NCBI chr 8:118,923,557...118,951,885
Ensembl chr 8:118,923,557...118,951,885
JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A severity ISO
IEP
RGD PMID:19201910 PMID:10906156 RGD:7245569, RGD:7245572 NCBI chr12:6,328,771...6,342,076
Ensembl chr12:6,328,757...6,342,114
JBrowse link
G TNFRSF1B TNF receptor superfamily member 1B treatment IDA
ISO
RGD PMID:22846145 PMID:22674120 RGD:7245541, RGD:7245544 NCBI chr 1:12,166,991...12,209,220
Ensembl chr 1:12,166,991...12,209,228
JBrowse link
G VCAM1 vascular cell adhesion molecule 1 severity IEP protein:increased expression:urine RGD PMID:22788914 RGD:7241032 NCBI chr 1:100,719,742...100,739,045
Ensembl chr 1:100,719,742...100,739,045
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 gamma receptor IIIa EXP CTD Direct Evidence: marker/mechanism CTD PMID:26773105 NCBI chr 1:161,541,759...161,550,737
Ensembl chr 1:161,541,759...161,550,968
JBrowse link
G FCGR3B Fc gamma receptor IIIb EXP CTD Direct Evidence: marker/mechanism CTD PMID:26773105 NCBI chr 1:161,623,196...161,631,963
Ensembl chr 1:161,623,196...161,631,963
JBrowse link
G INA internexin neuronal intermediate filament protein alpha severity IDA RGD PMID:20559547 RGD:40886275 NCBI chr10:103,277,138...103,290,346
Ensembl chr10:103,277,138...103,290,346
JBrowse link
G ITGAM integrin subunit alpha M EXP CTD Direct Evidence: marker/mechanism CTD PMID:26773105 NCBI chr16:31,259,975...31,332,877
Ensembl chr16:31,259,967...31,332,892
JBrowse link
G SELP selectin P IEP RGD PMID:20179168 RGD:6478687 NCBI chr 1:169,588,849...169,630,124
Ensembl chr 1:169,588,849...169,630,193
JBrowse link
systemic lupus erythematosus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACE angiotensin I converting enzyme IEA GAD PMID:15118671 RGD:1331525 NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380
JBrowse link
G ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13 IEP protein:decreased expression:plasma (human) RGD PMID:12935979 RGD:10449040 NCBI chr 9:133,414,337...133,459,386
Ensembl chr 9:133,414,358...133,459,402
JBrowse link
G ADIPOQ adiponectin, C1Q and collagen domain containing ISO RGD PMID:19109165 RGD:5686827 NCBI chr 3:186,842,710...186,858,463
Ensembl chr 3:186,842,704...186,858,463
JBrowse link
G AGER advanced glycosylation end-product specific receptor IAGP DNA:polymorphisms:promoter, intron:g.-429T>C rs1800625, g.-374T>A rs1800624, g.2184A>G rs3134940 (human) RGD PMID:22513366 RGD:6767309 NCBI chr 6:32,180,969...32,184,253
Ensembl chr 6:32,180,968...32,184,322
JBrowse link
G AGTR2 angiotensin II receptor type 2 ISO RGD PMID:21900645 RGD:6892717 NCBI chr  X:116,170,744...116,174,974
Ensembl chr  X:116,170,744...116,174,974
JBrowse link
G ANXA3 annexin A3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22446963 NCBI chr 4:78,551,770...78,610,447
Ensembl chr 4:78,551,747...78,610,451
JBrowse link
G AP4B1-AS1 AP4B1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Systemic lupus erythematosus ClinVar PMID:25741868 NCBI chr 1:113,812,612...113,901,237
Ensembl chr 1:113,812,379...113,901,237
JBrowse link
G APOA1 apolipoprotein A1 treatment
severity
ISO
IDA
RGD PMID:20482780 PMID:20131231 RGD:7241863, RGD:7241864 NCBI chr11:116,835,751...116,837,622
Ensembl chr11:116,835,751...116,837,622
JBrowse link
G ATG5 autophagy related 5 ISS 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 6:106,184,476...106,325,760
Ensembl chr 6:106,045,423...106,325,791
JBrowse link
G ATG7 autophagy related 7 ISS 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 3:11,272,397...11,576,353
Ensembl chr 3:11,272,309...11,557,665
JBrowse link
G ATRIP ATR interacting protein IAGP ClinVar Annotator: match by term: Systemic lupus erythematosus ClinVar PMID:16845398 PMID:17293595 PMID:17660818 PMID:17660820 PMID:17846997 More... NCBI chr 3:48,446,779...48,467,645
Ensembl chr 3:48,446,710...48,467,645
JBrowse link
G ATRIP ATR interacting protein IAGP ClinVar Annotator: match by term: Systemic lupus erythematosus ClinVar PMID:16845398 PMID:17293595 PMID:17660818 PMID:17660820 PMID:17846997 More... NCBI chr 3:48,446,737...48,467,645
Ensembl chr 3:48,446,710...48,467,645
JBrowse link
G BANK1 B cell scaffold protein with ankyrin repeats 1 susceptibility IAGP
EXP
DNA:SNPs:introns:
ClinVar Annotator: match by term: Systemic lupus erythematosus
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:18204447 PMID:25741868 PMID:18204447 RGD:9684976 NCBI chr 4:101,790,730...102,074,812
Ensembl chr 4:101,411,286...102,074,812
JBrowse link
G BECN1 beclin 1 ISS 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 chr17:42,810,132...42,824,282
Ensembl chr17:42,810,134...42,833,350
JBrowse link
G BLK BLK proto-oncogene, Src family tyrosine kinase IAGP
EXP
DNA:snp:promoter:rs13277113 (human)
ClinVar Annotator: match by term: Systemic lupus erythematosus
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:18204098 PMID:19667185 PMID:19838193 PMID:24023612 PMID:25741868 More... RGD:2316189 NCBI chr 8:11,494,387...11,564,599
Ensembl chr 8:11,486,894...11,564,599
JBrowse link
G BLK-AS1 BLK antisense RNA 1 IAGP ClinVar Annotator: match by term: Systemic lupus erythematosus ClinVar PMID:18204098 PMID:19667185 PMID:24023612 PMID:25741868 PMID:28492532 More... NCBI chr 8:11,552,486...11,558,265 JBrowse link
G BLTP3A bridge-like lipid transfer protein family member 3A EXP CTD Direct Evidence: marker/mechanism CTD PMID:19838195 NCBI chr 6:34,792,083...34,877,514
Ensembl chr 6:34,792,083...34,877,514
JBrowse link
G C1QA complement C1q A chain EXP
ISS
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
CTD
MouseDO
PMID:8840296 NCBI chr 1:22,636,463...22,639,678
Ensembl chr 1:22,635,077...22,639,678
JBrowse link
G C2 complement C2 IEP RGD PMID:6409476 RGD:7421516 NCBI chr 6:31,897,783...31,945,672
Ensembl chr 6:31,897,785...31,945,673
JBrowse link
G C3 complement C3 severity IDA protein:increased processing RGD PMID:7510492 RGD:11040772 NCBI chr19:6,677,704...6,720,650
Ensembl chr19:6,677,704...6,730,562
JBrowse link
G C3AR1 complement C3a receptor 1 ISO protein:increased expression:lung, leukocyte RGD PMID:17544263 RGD:5129560 NCBI chr12:8,056,844...8,066,359
Ensembl chr12:8,056,844...8,066,359
JBrowse link
G C4A complement C4A (Chido/Rodgers blood group) IAGP RGD PMID:17503323 RGD:5688260 NCBI chr 6:31,982,057...32,002,681
Ensembl chr 6:31,982,057...32,002,681
JBrowse link
G C4B complement C4B (Chido/Rodgers blood group) IAGP
ISS
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
RGD
PMID:17503323 RGD:5688260 NCBI chr 6:32,014,795...32,035,418
Ensembl chr 6:32,014,795...32,035,418
JBrowse link
G C5AR1 complement C5a receptor 1 ISO protein:increased expression:lung, leukocyte RGD PMID:17544263 RGD:5129560 NCBI chr19:47,307,477...47,322,066
Ensembl chr19:47,290,023...47,322,066
JBrowse link
G CA1 carbonic anhydrase 1 IDA RGD PMID:12806141 RGD:408425977 NCBI chr 8:85,327,608...85,378,113
Ensembl chr 8:85,327,608...85,379,014
JBrowse link
G CA2 carbonic anhydrase 2 IDA RGD PMID:12806141 RGD:408425977 NCBI chr 8:85,464,007...85,481,493
Ensembl chr 8:85,463,968...85,481,493
JBrowse link
G CAST calpastatin IDA RGD PMID:12367559 RGD:5683623 NCBI chr 5:95,961,429...96,774,683
Ensembl chr 5:96,247,756...96,779,595
Ensembl chr 5:96,247,756...96,779,595
JBrowse link
G CAT catalase EXP CTD Direct Evidence: marker/mechanism CTD PMID:27497885 NCBI chr11:34,438,934...34,472,060
Ensembl chr11:34,438,934...34,472,060
JBrowse link
G CCL2 C-C motif chemokine ligand 2 susceptibility
no_association
IAGP DNA:snp:promoter:g.-2518A>G (human) RGD PMID:20414371 PMID:11844145 RGD:11528535, RGD:11528536 NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208
JBrowse link
G CCL4 C-C motif chemokine ligand 4 disease_progression IEP protein:increased expression:serum RGD PMID:16924394 RGD:5683895 NCBI chr17:36,103,827...36,105,614
Ensembl chr17:36,103,827...36,105,621
JBrowse link
G CCR3 C-C motif chemokine receptor 3 severity IEP RGD PMID:21180278 RGD:6893428 NCBI chr 3:46,210,696...46,266,706
Ensembl chr 3:46,130,890...46,266,706
JBrowse link
G CCR5 C-C motif chemokine receptor 5 IEP mRNA:increased expression:blood, mononuclear cell RGD PMID:21180278 RGD:6893428 NCBI chr 3:46,370,142...46,376,206
Ensembl chr 3:46,370,946...46,376,206
JBrowse link
G CD226 CD226 molecule EXP CTD Direct Evidence: marker/mechanism CTD PMID:26808113 NCBI chr18:69,853,274...69,961,773
Ensembl chr18:69,831,158...69,961,803
JBrowse link
G CD4 CD4 molecule treatment ISO RGD PMID:7914411 RGD:10058961 NCBI chr12:6,789,528...6,820,799
Ensembl chr12:6,786,858...6,820,799
JBrowse link
G CD40 CD40 molecule susceptibility IAGP DNA:SNP: :rs4810485 (human)
DNA:SNP: :rs3765456 (human)
RGD PMID:21914625 PMID:23256180 RGD:5490522, RGD:7248721 NCBI chr20:46,118,314...46,129,858
Ensembl chr20:46,118,271...46,129,863
JBrowse link
G CD40LG CD40 ligand IEP
ISS
EXP
ISO
protein:increased expression:serum
OMIM:152700 | OMIM:300809 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420
CTD Direct Evidence: marker/mechanism
MouseDO
CTD
RGD
PMID:28793932 PMID:20726330 PMID:9036998 RGD:7248426, RGD:11352248 NCBI chr  X:136,648,158...136,660,390
Ensembl chr  X:136,648,158...136,660,390
JBrowse link
G CD46 CD46 molecule severity IEP mRNA:increased expression:leukocyte (human) RGD PMID:22247341 RGD:6483457 NCBI chr 1:207,752,038...207,795,516
Ensembl chr 1:207,752,037...207,795,513
JBrowse link
G CD80 CD80 molecule IEP RGD PMID:20653937 RGD:6902898 NCBI chr 3:119,524,293...119,559,614
Ensembl chr 3:119,524,293...119,559,614
JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A ISS 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 6:36,676,463...36,687,332
Ensembl chr 6:36,676,460...36,687,397
JBrowse link
G CENPA centromere protein A HDA RGD PMID:28460084 RGD:36947378 NCBI chr 2:26,786,056...26,794,589
Ensembl chr 2:26,764,289...26,801,067
JBrowse link
G CFB complement factor B EXP CTD Direct Evidence: marker/mechanism CTD PMID:19838195 NCBI chr 6:31,946,095...31,952,084
Ensembl chr 6:31,945,650...31,952,086
JBrowse link
G CFH complement factor H susceptibility IAGP RGD PMID:21637784 RGD:5684554 NCBI chr 1:196,652,043...196,747,504
Ensembl chr 1:196,651,754...196,752,476
JBrowse link
G CHAF1A chromatin assembly factor 1 subunit A IDA RGD PMID:24836587 RGD:9587742 NCBI chr19:4,402,640...4,450,830
Ensembl chr19:4,402,640...4,445,018
JBrowse link
G CIITA class II major histocompatibility complex transactivator resistance
no_association
IAGP DNA:polymorphism:intron:g.485A>G
DNA:polymorphism:promoter:rs3087456A, in a Japanese cohort A allele was protective/decreased risk of developing disease (p=0.006)
RGD PMID:15897313 PMID:17693604 PMID:17711409 RGD:5491190, RGD:5491204, RGD:5491203 NCBI chr16:10,866,206...10,943,021
Ensembl chr16:10,866,222...10,943,021
JBrowse link
G CLEC16A C-type lectin domain containing 16A EXP CTD Direct Evidence: marker/mechanism CTD PMID:19838195 NCBI chr16:10,944,564...11,182,186
Ensembl chr16:10,944,539...11,182,186
JBrowse link
G CLU clusterin IEP
EXP
protein:decreased expression:serum
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:15304052 PMID:10090169 RGD:8696021 NCBI chr 8:27,596,917...27,614,700
Ensembl chr 8:27,596,917...27,614,700
JBrowse link
G CR2 complement C3d receptor 2 ISO
IAGP
EXP
protein:decreased expression:B cell
ClinVar Annotator: match by term: Systemic lupus erythematosus, susceptibility to, 9
ClinVar Annotator: match by term: CR2-related condition | ClinVar Annotator: match by term: Systemic lupus erythematosus, susceptibility to, 9
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
RGD
PMID:9536098 PMID:17576681 PMID:24029428 PMID:24033266 PMID:25741868 More... RGD:127285806 NCBI chr 1:207,454,328...207,489,892
Ensembl chr 1:207,453,024...207,489,895
JBrowse link
G CRP C-reactive protein disease_progression
no_association
treatment
IDA
EXP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:17718048 PMID:17014014 PMID:20039408 PMID:8261665 RGD:6907402, RGD:6909146, RGD:6909144 NCBI chr 1:159,712,289...159,714,589
Ensembl chr 1:159,712,289...159,714,589
JBrowse link
G CSF1 colony stimulating factor 1 ISO RGD PMID:15383612 RGD:7257578 NCBI chr 1:109,910,506...109,930,992
Ensembl chr 1:109,910,242...109,930,992
JBrowse link
G CSK C-terminal Src kinase EXP CTD Direct Evidence: marker/mechanism CTD PMID:23042117 NCBI chr15:74,782,080...74,803,197
Ensembl chr15:74,782,080...74,803,197
JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 disease_progression ISO
IAGP
EXP
ClinVar Annotator: match by term: Systemic lupus erythematosus
ClinVar Annotator: match by term: Systemic lupus erythematosus, susceptibility to
CTD Direct Evidence: marker/mechanism
DNA:polymorphisms:exons:Japanese(human)
OMIM
ClinVar
CTD
RGD
PMID:8817351 PMID:9259273 PMID:9398726 PMID:10189842 PMID:10475192 More... RGD:7204684, RGD:7204691 NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965
JBrowse link
G CX3CR1 C-X3-C motif chemokine receptor 1 severity IEP mRNA:increased expression:blood, mononuclear cell RGD PMID:21180278 RGD:6893428 NCBI chr 3:39,263,494...39,292,966
Ensembl chr 3:39,263,495...39,281,735
JBrowse link
G CXCR2 C-X-C motif chemokine receptor 2 severity IEP RGD PMID:14596426 RGD:7257684 NCBI chr 2:218,125,294...218,137,251
Ensembl chr 2:218,125,289...218,137,251
JBrowse link
G CYBB cytochrome b-245 beta chain ISS 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:37,780,059...37,813,461
Ensembl chr  X:37,780,018...37,813,461
JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 susceptibility IAGP DNA:polymorphism:3' utr:3801T>C (rs4646903)
DNA:SNP: :4887C>A (human)
DNA:SNP: :p.I462V (human)
RGD PMID:19561157 PMID:14611903 PMID:10599336 RGD:5147672, RGD:1581249, RGD:5147680 NCBI chr15:74,719,542...74,725,528
Ensembl chr15:74,719,542...74,725,536
JBrowse link
G DEF6 DEF6 guanine nucleotide exchange factor EXP
ISS
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
CTD
MouseDO
PMID:26808113 NCBI chr 6:35,297,818...35,321,771
Ensembl chr 6:35,297,818...35,321,771
JBrowse link
G DNASE1 deoxyribonuclease 1 susceptibility IAGP
ISS
EXP
ClinVar Annotator: match by term: Systemic lupus erythematosus, susceptibility to
ClinVar Annotator: match by term: DNASE1-related condition
OMIM:152700 | OMIM:300809 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420
CTD Direct Evidence: marker/mechanism
ClinVar
MouseDO
CTD
OMIM
PMID:10835632 PMID:11479590 PMID:15333586 PMID:18486922 PMID:24206041 More... NCBI chr16:3,611,760...3,665,461
Ensembl chr16:3,611,728...3,680,143
JBrowse link
G DNASE1L3 deoxyribonuclease 1L3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22019780 NCBI chr 3:58,192,257...58,210,972
Ensembl chr 3:58,192,257...58,214,697
JBrowse link
G DNASE2 deoxyribonuclease 2, lysosomal IAGP ClinVar Annotator: match by term: Systemic lupus erythematosus ClinVar NCBI chr19:12,875,209...12,881,449
Ensembl chr19:12,875,209...12,881,595
JBrowse link
G DNMT1 DNA methyltransferase 1 no_association IEP mRNA:decreased expression:T cell: RGD PMID:21595664 PMID:18194272 RGD:9588656, RGD:9588670 NCBI chr19:10,133,346...10,194,953
Ensembl chr19:10,133,342...10,231,286
JBrowse link
G ELN elastin IDA RGD PMID:12643515 RGD:9585739 NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907
JBrowse link
G ENG endoglin IAGP ClinVar Annotator: match by term: Systemic lupus erythematosus ClinVar PMID:9536098 PMID:17576681 PMID:28492532 PMID:32190976 NCBI chr 9:127,815,016...127,854,658
Ensembl chr 9:127,811,130...127,854,773
JBrowse link
G EP300 E1A binding protein p300 ISS 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 chr22:41,092,592...41,180,077
Ensembl chr22:41,092,510...41,180,077
JBrowse link
G EPOR erythropoietin receptor IDA RGD PMID:23151030 RGD:11041604 NCBI chr19:11,377,207...11,384,314
Ensembl chr19:11,377,207...11,384,342
JBrowse link
G ESR2 estrogen receptor 2 susceptibility IAGP
ISO
IEP
DNA:SNP: :rs4986938 (human)
mRNA:decreased expression:leukocyte,mononuclear
DNA:repeats:intron:
mRNA:increased expression: :
RGD PMID:20961965 PMID:17336162 PMID:17874259 PMID:20305046 PMID:20627037 RGD:5508738, RGD:5508844, RGD:5508843, RGD:5508817, RGD:5508813 NCBI chr14:64,226,707...64,338,613
Ensembl chr14:64,084,232...64,338,112
JBrowse link
G ETS1 ETS proto-oncogene 1, transcription factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:19838193 NCBI chr11:128,458,765...128,587,558
Ensembl chr11:128,458,761...128,587,558
JBrowse link
G F2 coagulation factor II, thrombin susceptibility IAGP
IDA
DNA:SNP: :19911A>G (rs3136516) (human) RGD PMID:21239755 PMID:20807656 RGD:5147772, RGD:5147776 NCBI chr11:46,719,213...46,739,506
Ensembl chr11:46,719,196...46,739,506
JBrowse link
G FAM210B family with sequence similarity 210 member B ISS 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 chr20:56,358,974...56,368,663
Ensembl chr20:56,358,974...56,368,663
JBrowse link
G FAS Fas cell surface death receptor susceptibility IAGP
EXP
ISS
IEP
DNA:snps:promoter:g.-1377G>A, g.-670A>G (human)
CTD Direct Evidence: marker/mechanism
OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420
protein:increased expression:T lymphocyte:
protein:increased expression:serum (human)
CTD
MouseDO
RGD
PMID:36999444 PMID:23053964 PMID:7531628 PMID:9182923 RGD:8662433, RGD:11049450, RGD:8662437 NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605
JBrowse link
G FCGR2A Fc gamma receptor IIa susceptibility
no_association
IAGP
EXP
IDA
IEP
CTD Direct Evidence: marker/mechanism
DNA:polymorphism:cds:p.H131R (human)
protein:decreased expression:blood, monocyte
DNA:SNP (human)
OMIM
CTD
RGD
PMID:18204446 PMID:21719445 PMID:8254199 PMID:11561111 PMID:14747618 More... RGD:5147916, RGD:5147984, RGD:5147979, RGD:5147976, RGD:5147973, RGD:5147972, RGD:5147926 NCBI chr 1:161,505,457...161,524,048
Ensembl chr 1:161,505,430...161,524,013
JBrowse link
G FCGR2B Fc gamma receptor IIb no_association
severity
susceptibility
treatment
IAGP
ISS
EXP
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
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Systemic lupus erythematosus, susceptibility to
DNA:SNPs:exon, intron:10849T>C (rs1050501), 10950T>G (rs6666965) (human)
DNA:SNP:intron:11045G>T (rs12117530) (human)
DNA:snp:promoter:g.-386G>C (rs3219018) (human)
DNA:snps, haplotype:promoter:g.-386G>C, g.-120T>A (human)
OMIM
MouseDO
CTD
ClinVar
RGD
PMID:12115230 PMID:15459183 PMID:15895258 PMID:16115811 PMID:16170323 More... RGD:7240540, RGD:11056171, RGD:11056171, RGD:1547880, RGD:1547879, RGD:9588603, RGD:9588566 NCBI chr 1:161,647,243...161,678,654
Ensembl chr 1:161,663,143...161,678,654
JBrowse link
G FCGR3A Fc gamma receptor IIIa susceptibility IEP
IAGP
protein:decreased expression:NK cell
DNA:CNVs
DNA:SNPs:exon:rs403016,rs428888(human)
RGD PMID:21370226 PMID:25154742 PMID:18625651 RGD:5508389, RGD:11344974, RGD:5508444 NCBI chr 1:161,541,759...161,550,737
Ensembl chr 1:161,541,759...161,550,968
JBrowse link
G GADD45A growth arrest and DNA damage inducible alpha ISS 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 1:67,685,201...67,688,334
Ensembl chr 1:67,685,201...67,688,334
JBrowse link
G GSTM1 glutathione S-transferase mu 1 susceptibility IAGP DNA:deletion: : RGD PMID:20226777 RGD:5490989 NCBI chr 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039
JBrowse link
G HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:11436868 NCBI chr 6:32,637,406...32,655,272
Ensembl chr 6:32,628,179...32,647,062
JBrowse link
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 susceptibility IAGP DNA:polymorphisms: :multiple (human)
DNA:polymorphisms:cds:HLA-DQB1*0201 (human)
RGD PMID:21658414 PMID:12651073 PMID:18552411 RGD:5147560, RGD:40902999, RGD:5147620 NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383
JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 susceptibility IAGP
EXP
DNA:polymorphisms: :multiple (human)
DNA:polymorphisms:cds:HLA-DRB1*0301 (human)
CTD Direct Evidence: marker/mechanism
DNA:polymorphisms:cds:HLA-DRB1*0301, HLA-DRB1*1501 (human)
CTD
RGD
PMID:11436868 PMID:21658414 PMID:12651073 PMID:20191587 RGD:5147560, RGD:40902999, RGD:5147581 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848
JBrowse link
G HSPA1A heat shock protein family A (Hsp70) member 1A IAGP DNA:SNP: :rs1043618 (human) RGD PMID:20498198 RGD:5147600 NCBI chr 6:31,815,543...31,817,942
Ensembl chr 6:31,815,543...31,817,946
JBrowse link
G HSPA1L heat shock protein family A (Hsp70) member 1 like IAGP DNA:SNPs: :rs2075800, rs2227956 (human) RGD PMID:20498198 RGD:5147600 NCBI chr 6:31,809,619...31,815,283
Ensembl chr 6:31,809,619...31,815,283
JBrowse link
G HSPD1 heat shock protein family D (Hsp60) member 1 IEP protein:increased expression:serum: RGD PMID:8255671 RGD:12910480 NCBI chr 2:197,486,584...197,500,274
Ensembl chr 2:197,486,584...197,516,737
JBrowse link
G IFIH1 interferon induced with helicase C domain 1 EXP
ISS
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
CTD
MouseDO
PMID:19838195 PMID:24686847 NCBI chr 2:162,267,074...162,318,684
Ensembl chr 2:162,267,074...162,318,684
JBrowse link
G IFNG interferon gamma IEP
ISO
mRNA:increased expression:leukocyte,mononuclear
mRNA:increased expression:kidney (human)
protein:increased expression:renal glomerulus
RGD PMID:22759859 PMID:22660635 PMID:29925830 RGD:6893373, RGD:155663483, RGD:14974252 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
JBrowse link
G IKZF1 IKAROS family zinc finger 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19838193 NCBI chr 7:50,303,455...50,405,101
Ensembl chr 7:50,304,068...50,405,101
JBrowse link
G IKZF3 IKAROS family zinc finger 3 ISS 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 chr17:39,757,715...39,864,312
Ensembl chr17:39,757,715...39,864,312
JBrowse link
G IL10 interleukin 10 IAGP
EXP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:19838195 PMID:20728533 PMID:12486603 RGD:1580478 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
JBrowse link
G IL12B interleukin 12B EXP CTD Direct Evidence: marker/mechanism CTD PMID:19838195 PMID:26808113 NCBI chr 5:159,314,780...159,330,487
Ensembl chr 5:159,314,780...159,330,863
JBrowse link
G IL13 interleukin 13 IEP protein:increased expression:serum RGD PMID:12051401 RGD:8549582 NCBI chr 5:132,656,522...132,661,110
Ensembl chr 5:132,656,263...132,661,110
JBrowse link
G IL17A interleukin 17A IEP protein:increased expression:epidermis (human)
mRNA:increased expression:kidney (human)
RGD PMID:20493423 PMID:22660635 RGD:8698667, RGD:155663483 NCBI chr 6:52,186,375...52,190,638
Ensembl chr 6:52,186,375...52,190,638
JBrowse link
G IL1B interleukin 1 beta IAGP
IEP
DNA:SNPs, haplotype:promoter:-511C>T, 3953C>T (human)
mRNA:increased expression:kidney (human)
RGD PMID:15470475 PMID:22660635 RGD:7401214, RGD:155663483 NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816
JBrowse link
G IL1RN interleukin 1 receptor antagonist IEP
IAGP
protein:increased expression:plasma (human)
DNA:polymorphism:exon:g.14709C>T rs315952 (human)
RGD PMID:20805419 PMID:17176440 RGD:6906963, RGD:6907356 NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016
JBrowse link
G IL2 interleukin 2 IDA RGD PMID:6421522 RGD:8662948 NCBI chr 4:122,451,470...122,456,725
Ensembl chr 4:122,451,470...122,456,725
JBrowse link
G IL21 interleukin 21 susceptibility EXP
IAGP
CTD Direct Evidence: marker/mechanism
DNA:SNP:intron: (rs907715) (human)
CTD
RGD
PMID:17911475 PMID:23236436 RGD:127285363 NCBI chr 4:122,610,108...122,621,066
Ensembl chr 4:122,610,108...122,621,066
JBrowse link
G IL21R interleukin 21 receptor ISO
EXP
IAGP
CTD Direct Evidence: therapeutic
DNA:polymorphism: : rs3093301 (human)
CTD
RGD
PMID:17911475 PMID:20424514 PMID:19164519 PMID:19644854 RGD:6892931, RGD:6892937, RGD:6892933 NCBI chr16:27,402,174...27,452,042
Ensembl chr16:27,402,174...27,452,042
JBrowse link
G IL23R interleukin 23 receptor IEP protein:increased expression:T cell: RGD PMID:21110900 RGD:8549601 NCBI chr 1:67,138,637...67,265,903
Ensembl chr 1:67,138,907...67,259,979
JBrowse link
G IL4 interleukin 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18158872 NCBI chr 5:132,673,989...132,682,678
Ensembl chr 5:132,673,986...132,682,678
JBrowse link
G IL5 interleukin 5 IEP RGD PMID:23054011 RGD:7241039 NCBI chr 5:132,541,445...132,556,815
Ensembl chr 5:132,541,445...132,556,838
JBrowse link
G IL6 interleukin 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18158872 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002
JBrowse link
G INPP5D inositol polyphosphate-5-phosphatase D ISS 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 2:233,060,342...233,207,903
Ensembl chr 2:233,059,967...233,207,903
JBrowse link
G IRAK4 interleukin 1 receptor associated kinase 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28003376 NCBI chr12:43,758,951...43,789,541
Ensembl chr12:43,758,944...43,798,307
JBrowse link
G IRF5 interferon regulatory factor 5 IAGP
EXP
ClinVar Annotator: match by term: Systemic lupus erythematosus, susceptibility to, 10
ClinVar Annotator: match by term: Systemic lupus erythematosus, association with susceptibility to, 10
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
PMID:15657875 PMID:16642019 PMID:17189288 PMID:17393452 PMID:17476532 More... NCBI chr 7:128,937,032...128,950,038
Ensembl chr 7:128,937,457...128,950,038
JBrowse link
G IRF8 interferon regulatory factor 8 susceptibility IAGP DNA:SNP: (rs4843869) (human) RGD PMID:27021335 RGD:329961559 NCBI chr16:85,899,162...85,922,609
Ensembl chr16:85,899,116...85,922,606
JBrowse link
G ITGAM integrin subunit alpha M EXP CTD Direct Evidence: marker/mechanism CTD PMID:18204446 PMID:18204448 NCBI chr16:31,259,975...31,332,877
Ensembl chr16:31,259,967...31,332,892
JBrowse link
G JAK1 Janus kinase 1 ISS 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 1:64,833,229...65,067,746
Ensembl chr 1:64,833,223...65,067,754
JBrowse link
G JAK2 Janus kinase 2 ISO RGD PMID:21880982 RGD:6483022 NCBI chr 9:4,984,390...5,129,948
Ensembl chr 9:4,984,390...5,129,948
JBrowse link
G JAZF1 JAZF zinc finger 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19838195 NCBI chr 7:27,830,577...28,180,795
Ensembl chr 7:27,830,573...28,180,795
JBrowse link
G JUNB JunB proto-oncogene, AP-1 transcription factor subunit ISS 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 chr19:12,791,486...12,793,315
Ensembl chr19:12,791,486...12,793,315
JBrowse link
G KLKB1 kallikrein B1 susceptibility IAGP DNA:SNPs:promoter: RGD PMID:19307730 RGD:7327150 NCBI chr 4:186,210,853...186,258,471
Ensembl chr 4:186,226,438...186,258,471
JBrowse link
G LBR lamin B receptor ISS 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 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925
JBrowse link
G LDLR low density lipoprotein receptor IEP mRNA:decreased expression:leukocyte RGD PMID:19811272 RGD:5490253 NCBI chr19:11,089,463...11,133,820
Ensembl chr19:11,089,418...11,133,820
JBrowse link
G LOC126805994 BRD4-independent group 4 enhancer GRCh37_chr1:207642622-207643821 IAGP ClinVar Annotator: match by term: CR2-related condition
ClinVar Annotator: match by term: Systemic lupus erythematosus, susceptibility to, 9
ClinVar Annotator: match by term: CR2-related condition | ClinVar Annotator: match by term: Systemic lupus erythematosus, susceptibility to, 9
ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:207,469,277...207,470,476 JBrowse link
G LOC126860303 CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:11407118-11408317 IAGP ClinVar Annotator: match by term: Systemic lupus erythematosus ClinVar PMID:18204098 PMID:19667185 PMID:24023612 PMID:25741868 PMID:28492532 More... NCBI chr 8:11,549,609...11,550,808 JBrowse link
G LOC130058479 ATAC-STARR-seq lymphoblastoid silent region 7198 IAGP ClinVar Annotator: match by term: Systemic lupus erythematosus ClinVar PMID:33087723 NCBI chr16:11,255,350...11,255,499 JBrowse link
G LPA lipoprotein(a) IEP protein:increased ezpression:serum RGD PMID:20026018 RGD:5509911 NCBI chr 6:160,531,482...160,664,275
Ensembl chr 6:160,531,482...160,664,275
JBrowse link
G LYN LYN proto-oncogene, Src family tyrosine kinase ISS 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 8:55,879,835...56,014,169
Ensembl chr 8:55,879,835...56,014,169
JBrowse link
G MAN2A1 mannosidase alpha class 2A member 1 ISS 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 5:109,689,927...109,869,625
Ensembl chr 5:109,689,927...109,869,625
JBrowse link
G MBL2 mannose binding lectin 2 susceptibility IAGP DNA:SNP:exon
DNA:SNP,haplotype:cds:p.G54D,G57E(human)
RGD PMID:21510992 PMID:11561111 RGD:6903266, RGD:5147979 NCBI chr10:52,765,380...52,772,784
Ensembl chr10:52,765,380...52,772,784
JBrowse link
G MEFV MEFV innate immunity regulator, pyrin IAGP ClinVar Annotator: match by term: Systemic lupus erythematosus ClinVar PMID:5458961 PMID:7677151 PMID:9668175 PMID:10090880 PMID:10737995 More... NCBI chr16:3,242,027...3,256,633
Ensembl chr16:3,242,027...3,256,633
JBrowse link
G MIR146A microRNA 146a IEP
ISO
mRNA:increased expression:kidney (human)
mRNA:increased expression:kidney (mouse)
RGD PMID:22660635 PMID:22660635 RGD:155663483, RGD:155663483 NCBI chr 5:160,485,352...160,485,450
Ensembl chr 5:160,485,352...160,485,450
JBrowse link
G MIR196A2 microRNA 196a-2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27816459 NCBI chr12:53,991,738...53,991,847
Ensembl chr12:53,991,738...53,991,847
JBrowse link
G MIR23B microRNA 23b treatment IEP
ISO
mRNA, protein:decreased expression:kidney (human)
mRNA:decreased expression:kidney (mouse)
RGD PMID:22660635 PMID:22660635 PMID:22660635 RGD:155663483, RGD:155663483, RGD:155663483 NCBI chr 9:95,085,208...95,085,304
Ensembl chr 9:95,085,208...95,085,304
JBrowse link
G MKI67 marker of proliferation Ki-67 IEP RGD PMID:21693493 RGD:6483529 NCBI chr10:128,096,659...128,126,423
Ensembl chr10:128,096,659...128,126,423
JBrowse link
G MMD monocyte to macrophage differentiation associated IEP associated with Pregnancy Complications;mRNA:increased expression:blood (human) RGD PMID:31684818 RGD:155630630 NCBI chr17:55,392,622...55,421,835
Ensembl chr17:55,392,622...55,421,924
JBrowse link
G MMP1 matrix metallopeptidase 1 IEP protein:increased expression:plasma (human) RGD PMID:9972954 RGD:7207129 NCBI chr11:102,789,919...102,798,160
Ensembl chr11:102,789,401...102,798,160
JBrowse link
G MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 IAGP DNA:transition:cds:m.9055A>G (human) RGD PMID:18708297 RGD:5490259 NCBI chr MT:8,527...9,207
Ensembl chr MT:8,527...9,207
JBrowse link
G MTA2 metastasis associated 1 family member 2 ISS 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 chr11:62,593,214...62,601,865
Ensembl chr11:62,593,214...62,601,865
JBrowse link
G NAT2 N-acetyltransferase 2 susceptibility IAGP DNA:polymorphism: : RGD PMID:10599336 RGD:5147680 NCBI chr 8:18,386,301...18,401,218
Ensembl chr 8:18,391,282...18,401,218
JBrowse link
G NCF1 neutrophil cytosolic factor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28135245 NCBI chr 7:74,774,011...74,789,315
Ensembl chr 7:74,774,011...74,789,315
JBrowse link
G NOD2 nucleotide binding oligomerization domain containing 2 susceptibility IEP
IAGP
protein:increased expression:monocyte
DNA:mutation:cds:p.G908R (rs2066845)(human)
RGD PMID:21886831 PMID:16642031 RGD:5508746, RGD:13204710 NCBI chr16:50,693,606...50,733,075
Ensembl chr16:50,693,588...50,733,077
JBrowse link
G NOS2 nitric oxide synthase 2 ISO mRNA:increased expression:bone marrow macrophage (mouse) RGD PMID:22011580 RGD:5508848 NCBI chr17:27,756,766...27,800,529
Ensembl chr17:27,756,766...27,800,529
JBrowse link
G P2RY12 purinergic receptor P2Y12 IEP
EXP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:15304052 PMID:15304052 RGD:6480537 NCBI chr 3:151,336,843...151,384,753
Ensembl chr 3:151,336,843...151,384,753
JBrowse link
G PARP1 poly(ADP-ribose) polymerase 1 ISO RGD PMID:17182544 RGD:11074797 NCBI chr 1:226,360,691...226,408,093
Ensembl chr 1:226,360,210...226,408,154
JBrowse link
G PCNX3 pecanex 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26808113 NCBI chr11:65,615,776...65,637,439
Ensembl chr11:65,615,776...65,637,439
JBrowse link
G PDCD1 programmed cell death 1 IAGP
ISS
IDA
DNA:polymorphism: : 7,146 G>A (human)
OMIM:152700 | OMIM:300809 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420
MouseDO
RGD
PMID:17228327 PMID:19116915 RGD:7248674, RGD:7248679 NCBI chr 2:241,849,884...241,858,894
Ensembl chr 2:241,849,884...241,858,894
JBrowse link
G PGF placental growth factor IEP protein:increased expression:serum RGD PMID:19276301 RGD:6483612 NCBI chr14:74,941,830...74,955,764
Ensembl chr14:74,941,834...74,955,626
JBrowse link
G PHRF1 PHD and ring finger domains 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18204446 NCBI chr11:576,470...612,222
Ensembl chr11:576,470...612,222
JBrowse link
G PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma ISO RGD PMID:16365454 RGD:6482698 NCBI chr 7:106,865,282...106,908,980
Ensembl chr 7:106,865,278...106,908,980
JBrowse link
G PLD4 phospholipase D family member 4 ISS 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 chr14:104,924,879...104,937,785
Ensembl chr14:104,924,713...104,937,761
JBrowse link
G POLB DNA polymerase beta ISS 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 8:42,338,494...42,371,808
Ensembl chr 8:42,338,454...42,371,808
JBrowse link
G PPARG peroxisome proliferator activated receptor gamma ISS 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 3:12,287,368...12,434,344
Ensembl chr 3:12,287,368...12,434,356
JBrowse link
G PPP2R2B protein phosphatase 2 regulatory subunit Bbeta IEP RGD PMID:21746932 RGD:5686291 NCBI chr 5:146,580,742...147,081,520
Ensembl chr 5:146,580,742...147,084,784
JBrowse link
G PRDM1 PR/SET domain 1 EXP
ISS
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
CTD
MouseDO
PMID:19838195 NCBI chr 6:105,992,690...106,109,938
Ensembl chr 6:105,993,463...106,109,939
JBrowse link
G PRF1 perforin 1 severity IEP RGD PMID:21906646 RGD:6482798 NCBI chr10:70,597,348...70,602,741
Ensembl chr10:70,597,348...70,602,759
JBrowse link
G PRL prolactin EXP CTD Direct Evidence: marker/mechanism CTD PMID:14870917 NCBI chr 6:22,287,246...22,302,835
Ensembl chr 6:22,287,244...22,302,826
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17761345 NCBI chr 1:186,671,791...186,680,423
Ensembl chr 1:186,671,791...186,680,922
JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 susceptibility IAGP
EXP
DNA:missense mutation:cds:p.R620W (human)
ClinVar Annotator: match by term: Systemic lupus erythematosus
CTD Direct Evidence: marker/mechanism
DNA:snp:cds:c.1858C>T (human)
DNA:snp:introns:c.87+1492C>T, c.828+186G>A (rs1217414, rs3765598) (human)
DNA:missense mutation:cds:p.R263Q (human)
ClinVar
OMIM
CTD
RGD
PMID:18204446 PMID:21190368 PMID:25741868 PMID:17092257 PMID:23076337 More... RGD:5147973, RGD:11534992, RGD:11533999, RGD:11532755 NCBI chr 1:113,813,811...113,871,759
Ensembl chr 1:113,813,811...113,871,753
JBrowse link
G PTPRC protein tyrosine phosphatase receptor type C ISS 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 1:198,638,713...198,757,476
Ensembl chr 1:198,638,457...198,759,342
JBrowse link
G PXK PX domain containing serine/threonine kinase like EXP CTD Direct Evidence: marker/mechanism CTD PMID:18204446 NCBI chr 3:58,332,892...58,426,127
Ensembl chr 3:58,332,880...58,426,127
JBrowse link
G RASGRP1 RAS guanyl releasing protein 1 EXP
ISS
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
CTD
MouseDO
PMID:26808113 NCBI chr15:38,488,103...38,564,814
Ensembl chr15:38,488,103...38,565,575
JBrowse link
G RASGRP3 RAS guanyl releasing protein 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19838193 NCBI chr 2:33,436,348...33,564,731
Ensembl chr 2:33,436,324...33,586,669
JBrowse link
G RASSF5 Ras association domain family member 5 ISS 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 1:206,507,531...206,589,448
Ensembl chr 1:206,507,531...206,589,448
JBrowse link
G RC3H1 ring finger and CCCH-type domains 1 ISS 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 1:173,931,084...174,022,357
Ensembl chr 1:173,931,084...174,022,357
JBrowse link
G RETN resistin IEP RGD PMID:21885493 RGD:7207148 NCBI chr19:7,669,049...7,670,455
Ensembl chr19:7,669,049...7,670,455
JBrowse link
G RO60 Ro60, Y RNA binding protein ISS 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 1:193,059,612...193,091,777
Ensembl chr 1:193,059,454...193,091,777
JBrowse link
G RPL12 ribosomal protein L12 IDA RGD PMID:11161982 RGD:11035232 NCBI chr 9:127,447,674...127,451,406
Ensembl chr 9:127,447,674...127,451,406
JBrowse link
G RPL14 ribosomal protein L14 IDA RGD PMID:12051391 RGD:11036103 NCBI chr 3:40,457,339...40,468,587
Ensembl chr 3:40,457,292...40,468,587
JBrowse link
G RUBCN rubicon autophagy regulator ISS 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 3:197,668,867...197,749,820
Ensembl chr 3:197,668,867...197,749,727
JBrowse link
G RXRA retinoid X receptor alpha ISS 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 9:134,326,455...134,440,585
Ensembl chr 9:134,317,098...134,440,585
JBrowse link
G SELL selectin L IEP RGD PMID:20512127 RGD:7175284 NCBI chr 1:169,690,667...169,711,620
Ensembl chr 1:169,690,665...169,711,702
JBrowse link
G SFTPD surfactant protein D IEP protein:decreased expression:serum RGD PMID:19833760 RGD:4143493 NCBI chr10:79,937,740...79,982,383
Ensembl chr10:79,937,467...79,982,614
JBrowse link
G SH2B3 SH2B adaptor protein 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19838195 NCBI chr12:111,404,730...111,451,623
Ensembl chr12:111,405,923...111,451,623
JBrowse link
G SIGLEC6 sialic acid binding Ig like lectin 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26808113 NCBI chr19:51,517,819...51,531,670
Ensembl chr19:51,517,819...51,531,856
JBrowse link
G SLC11A1 solute carrier family 11 member 1 IAGP DNA:deletion:3' utr: (human) RGD PMID:21233146 RGD:5684928 NCBI chr 2:218,382,273...218,396,894
Ensembl chr 2:218,382,029...218,396,894
JBrowse link
G SLC15A4 solute carrier family 15 member 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19838193 NCBI chr12:128,793,194...128,823,958
Ensembl chr12:128,793,194...128,823,958
JBrowse link
G SNRNP70 small nuclear ribonucleoprotein U1 subunit 70 ISO
IDA
RGD PMID:10940910 PMID:22454191 RGD:10448935, RGD:10448939 NCBI chr19:49,085,451...49,108,604
Ensembl chr19:49,085,419...49,108,605
JBrowse link
G SNRPC small nuclear ribonucleoprotein polypeptide C IDA RGD PMID:8647956 RGD:10766446 NCBI chr 6:34,757,505...34,773,857
Ensembl chr 6:34,757,505...34,773,857
JBrowse link
G SNRPD1 small nuclear ribonucleoprotein D1 polypeptide severity IDA mouse model RGD PMID:12571858 RGD:10755713 NCBI chr18:21,612,314...21,633,520
Ensembl chr18:21,612,314...21,633,524
JBrowse link
G SNRPD2 small nuclear ribonucleoprotein D2 polypeptide IDA RGD PMID:11823543 RGD:10766471 NCBI chr19:45,687,454...45,692,316
Ensembl chr19:45,687,460...45,692,569
JBrowse link
G SNRPD3 small nuclear ribonucleoprotein D3 polypeptide IDA RGD PMID:17640359 RGD:10755704 NCBI chr22:24,555,650...24,574,971
Ensembl chr22:24,555,958...24,582,052
JBrowse link
G SOCS1 suppressor of cytokine signaling 1 ISO
IAGP
ClinVar Annotator: match by term: Systemic lupus erythematosus ClinVar
RGD
PMID:33087723 PMID:14499118 RGD:150573686 NCBI chr16:11,254,417...11,256,204
Ensembl chr16:11,254,417...11,256,204
JBrowse link
G SOD2 superoxide dismutase 2 IAGP DNA:SNP, haplotype: :1183C>T (human) RGD PMID:14611903 RGD:1581249 NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529
JBrowse link
G STAT4 signal transducer and activator of transcription 4 onset
treatment
ISO
IAGP
EXP
ClinVar Annotator: match by term: STAT4-related condition
ClinVar Annotator: match by term: Systemic lupus erythematosus, susceptibility to, 11
CTD Direct Evidence: marker/mechanism
DNA:SNPs:intron:multiple (human)
DNA:SNPs:introns:c.274-23582A>C, c.274-2691G>A, c.466-1307G>A (rs7574865, rs11889341, rs10168266) (human)
DNA:SNP:intron:c.274-28828C>G (rs10181656) (human)
DNA:SNP:intron:c.274-23582A>C (rs7574865) (human)
DNA:SNP:intron:c.274-29069G>C (rs7582694) (human)
OMIM
ClinVar
CTD
RGD
PMID:17804842 PMID:18204446 PMID:19109131 PMID:19838193 PMID:19838195 More... RGD:7207867, RGD:7207881, RGD:7207879, RGD:7207878, RGD:7207877, RGD:7207874, RGD:7207869 NCBI chr 2:191,029,576...191,151,596
Ensembl chr 2:191,029,576...191,178,435
JBrowse link
G SYNGR1 synaptogyrin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26808113 NCBI chr22:39,349,991...39,385,575
Ensembl chr22:39,349,925...39,385,575
JBrowse link
G TAB2 TGF-beta activated kinase 1 (MAP3K7) binding protein 2 IEP mRNA, protein:increased expression:kidney (human) RGD PMID:22660635 RGD:155663483 NCBI chr 6:149,217,926...149,411,607
Ensembl chr 6:149,218,641...149,411,613
JBrowse link
G TAB3 TGF-beta activated kinase 1 (MAP3K7) binding protein 3 IEP mRNA, protein:increased expression:kidney (human) RGD PMID:22660635 RGD:155663483 NCBI chr  X:30,827,442...30,889,254
Ensembl chr  X:30,827,442...30,975,084
JBrowse link
G TAP1 transporter 1, ATP binding cassette subfamily B member no_association IAGP RGD PMID:9014588 RGD:6482277 NCBI chr 6:32,845,209...32,853,704
Ensembl chr 6:32,845,209...32,853,816
JBrowse link
G TAP2 transporter 2, ATP binding cassette subfamily B member susceptibility
no_association
IAGP RGD PMID:12634240 PMID:9014588 RGD:6482273, RGD:6482277 NCBI chr 6:32,821,831...32,838,739
Ensembl chr 6:32,821,833...32,838,739
JBrowse link
G TCF7 transcription factor 7 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26808113 NCBI chr 5:134,108,218...134,148,210
Ensembl chr 5:134,114,681...134,151,865
JBrowse link
G TERT telomerase reverse transcriptase EXP CTD Direct Evidence: marker/mechanism CTD PMID:26808113 NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068
JBrowse link
G TFPI tissue factor pathway inhibitor IEP protein:decreased expression:plasma: RGD PMID:11709459 RGD:11060258 NCBI chr 2:187,464,230...187,554,435
Ensembl chr 2:187,464,230...187,565,760
JBrowse link
G THBD thrombomodulin IEP protein:increased expression:serum RGD PMID:18484695 RGD:5684995 NCBI chr20:23,045,633...23,049,672
Ensembl chr20:23,045,633...23,049,672
JBrowse link
G TIMD4 T cell immunoglobulin and mucin domain containing 4 ISS 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 5:156,919,292...156,963,226
Ensembl chr 5:156,919,292...156,963,226
JBrowse link
G TLR4 toll like receptor 4 ISO RGD PMID:19841185 RGD:7241088 NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735
JBrowse link
G TLR5 toll like receptor 5 susceptibility IAGP
EXP
ClinVar Annotator: match by term: Systemic lupus erythematosus, resistance to, 1
ClinVar Annotator: match by term: Systemic lupus erythematosus, susceptibility to, 1
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
PMID:14623910 PMID:16027372 PMID:23447684 PMID:25741868 NCBI chr 1:223,109,404...223,143,248
Ensembl chr 1:223,109,404...223,143,292
JBrowse link
G TLR7 toll like receptor 7 ISS
IAGP
OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420
ClinVar Annotator: match by term: Systemic lupus erythematosus
MouseDO
ClinVar
PMID:35477763 NCBI chr  X:12,867,072...12,890,361
Ensembl chr  X:12,867,072...12,890,361
JBrowse link
G TLR9 toll like receptor 9 susceptibility
severity
IAGP
ISO
DNA:snp:exon:c.1635C>T rs352140 (human)
mRNA:increased expression:B lymphocyte (mouse)
RGD PMID:19130296 PMID:21592581 PMID:16973389 RGD:5130767, RGD:7246894, RGD:7245988 NCBI chr 3:52,221,080...52,225,645
Ensembl chr 3:52,221,080...52,225,645
JBrowse link
G TNF tumor necrosis factor IEP
IAGP
protein:increased expression:serum
mRNA:increased expression:kidney (human)
ClinVar Annotator: match by term: Systemic lupus erythematosus, susceptibility to
DNA:polymorphisms, haplotype:promoter:multiple (human)
ClinVar
RGD
PMID:8056188 PMID:9818939 PMID:10450718 PMID:11261930 PMID:11506397 More... RGD:7245570, RGD:155663483, RGD:7245571 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
JBrowse link
G TNFAIP3 TNF alpha induced protein 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19165918 PMID:19165919 PMID:19838193 PMID:21336280 NCBI chr 6:137,866,349...137,883,312
Ensembl chr 6:137,867,214...137,883,314
JBrowse link
G TNFRSF13B TNF receptor superfamily member 13B ISS 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 chr17:16,939,081...16,972,118
Ensembl chr17:16,929,816...16,972,118
JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A severity IEP protein:increased expression:serum RGD PMID:8393677 RGD:7245539 NCBI chr12:6,328,771...6,342,076
Ensembl chr12:6,328,757...6,342,114
JBrowse link
G TNFRSF1B TNF receptor superfamily member 1B severity
no_association
IEP
IAGP
protein:increased expression:serum
DNA:missense mutation:cds:p.M196R (human)
RGD PMID:8393677 PMID:11607787 RGD:7245539, RGD:7245571 NCBI chr 1:12,166,991...12,209,220
Ensembl chr 1:12,166,991...12,209,228
JBrowse link
G TNFSF4 TNF superfamily member 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18059267 PMID:19838193 NCBI chr 1:173,172,870...173,450,733
Ensembl chr 1:173,162,645...173,477,583
JBrowse link
G TNIP1 TNFAIP3 interacting protein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19838193 PMID:19838195 NCBI chr 5:151,029,943...151,087,685
Ensembl chr 5:151,029,945...151,093,577
JBrowse link
G TRAF3IP2 TRAF3 interacting protein 2 ISS 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 6:111,555,381...111,605,878
Ensembl chr 6:111,555,381...111,606,906
JBrowse link
G TREX1 three prime repair exonuclease 1 EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Systemic lupus erythematosus
CTD
OMIM
ClinVar
PMID:16845398 PMID:17293595 PMID:17660818 PMID:17660820 PMID:17846997 More... NCBI chr 3:48,465,830...48,467,645
Ensembl chr 3:48,465,811...48,467,645
JBrowse link
G VCAM1 vascular cell adhesion molecule 1 severity IEP RGD PMID:18693542 RGD:7241211 NCBI chr 1:100,719,742...100,739,045
Ensembl chr 1:100,719,742...100,739,045
JBrowse link
G VIM vimentin IDA RGD PMID:3780056 RGD:6480476 NCBI chr10:17,228,241...17,237,593
Ensembl chr10:17,228,241...17,237,593
JBrowse link
G YWHAB tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein beta IEA GAD PMID:15118671 RGD:1331525 NCBI chr20:44,885,705...44,908,532
Ensembl chr20:44,885,702...44,908,532
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 IAGP ClinVar Annotator: match by term: Systemic lupus erythematosus 16
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 chr 3:58,192,257...58,210,972
Ensembl chr 3:58,192,257...58,214,697
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 IAGP ClinVar Annotator: match by term: Systemic lupus erythematosus 17 OMIM
ClinVar
PMID:28492532 PMID:35477763 NCBI chr  X:12,867,072...12,890,361
Ensembl chr  X:12,867,072...12,890,361
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 151455
    disease of anatomical entity 138485
      musculoskeletal system disease 29210
        autoimmune disease of musculoskeletal system 9012
          lupus erythematosus 1725
            cutaneous lupus erythematosus + 33
            drug-induced lupus erythematosus 0
            systemic lupus erythematosus + 1702
Path 2
Term Annotations click to browse term
  disease 151455
    disease of anatomical entity 138485
      Immune & Inflammatory Diseases 28050
        immune system disease 23853
          primary immunodeficiency disease 18105
            autoimmune disease 13982
              autoimmune disease of musculoskeletal system 9012
                lupus erythematosus 1725
                  cutaneous lupus erythematosus + 33
                  drug-induced lupus erythematosus 0
                  systemic lupus erythematosus + 1702
paths to the root