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
Accession: DOID:8857
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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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
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C1QA
complement C1q A chain
ISO
ClinVar Annotator: match by term: C1Q deficiency
ClinVar
PMID:7594474 PMID:8840296 PMID:9225968 PMID:9590289 PMID:21654842 PMID:22472776 PMID:25741868 PMID:26563161 PMID:28492532 PMID:29739689 PMID:30008451 More...
NCBI chr20:110,024,847...110,027,868
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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
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C1QC
complement C1q C chain
ISO
ClinVar Annotator: match by term: C1Q deficiency
ClinVar
PMID:7029321 PMID:7900940 PMID:8630118 PMID:20635792 PMID:21654842 PMID:24157463 PMID:25741868 PMID:28082982 PMID:28492532 PMID:30008451 PMID:31357913 More...
NCBI chr20:110,016,355...110,021,123
Ensembl chr20:110,016,362...110,020,854
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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
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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
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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
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ATRIP
ATR interacting protein
ISO
ClinVar Annotator: match by term: Chilblain lupus
ClinVar
PMID:16960810 PMID:17357087 PMID:17440703 PMID:18805785 PMID:20799324 PMID:20871604 PMID:21808053 PMID:22829693 PMID:23989343 PMID:25741868 PMID:25848017 PMID:28492532 More...
NCBI chr22:9,849,439...9,869,654
Ensembl chr22:9,849,570...9,869,553
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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 PMID:20871604 PMID:21808053 PMID:22829693 PMID:23989343 PMID:25741868 PMID:25848017 PMID:28492532 More...
NCBI chr22:9,869,502...9,871,659
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ATRIP
ATR interacting protein
ISO
ClinVar Annotator: match by term: Chilblain lupus 1
ClinVar
PMID:16845398 PMID:17293595 PMID:17357087 PMID:17660818 PMID:17660820 PMID:17846997 PMID:18583934 PMID:18724932 PMID:18805785 PMID:20131292 PMID:20392289 PMID:20799324 PMID:21270825 PMID:21937424 PMID:23881107 PMID:23979357 PMID:24033266 PMID:24088041 PMID:24183309 PMID:24224166 PMID:24300241 PMID:25138095 PMID:25582466 PMID:25604658 PMID:25741868 PMID:25906927 PMID:26182405 PMID:26467025 PMID:26633545 PMID:26938784 PMID:27391121 PMID:27943079 PMID:28089741 PMID:28492532 PMID:28750028 PMID:28919362 PMID:29239743 PMID:29387804 PMID:29453417 PMID:29859840 PMID:30219631 PMID:31130681 PMID:31585108 PMID:31980526 PMID:32483926 PMID:32860008 PMID:33042144 PMID:33504652 PMID:33528079 PMID:34426522 PMID:35307828 PMID:35456422 PMID:36586737 PMID:39825153 More...
NCBI chr22:9,849,439...9,869,654
Ensembl chr22:9,849,570...9,869,553
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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
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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
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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 PMID:17846997 PMID:18583934 PMID:18724932 PMID:18805785 PMID:20131292 PMID:20392289 PMID:20799324 PMID:21270825 PMID:21937424 PMID:23881107 PMID:23979357 PMID:24033266 PMID:24088041 PMID:24183309 PMID:24224166 PMID:24300241 PMID:25138095 PMID:25582466 PMID:25604658 PMID:25741868 PMID:25906927 PMID:26182405 PMID:26467025 PMID:26633545 PMID:26938784 PMID:27391121 PMID:27943079 PMID:28089741 PMID:28492532 PMID:28750028 PMID:28919362 PMID:29239743 PMID:29387804 PMID:29453417 PMID:29859840 PMID:30219631 PMID:31130681 PMID:31585108 PMID:31980526 PMID:32483926 PMID:32860008 PMID:33042144 PMID:33504652 PMID:33528079 PMID:34426522 PMID:35307828 PMID:35456422 PMID:36586737 PMID:39825153 More...
NCBI chr22:9,869,502...9,871,659
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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 PMID:22973040 PMID:24033266 PMID:25604658 PMID:25741868 PMID:26467025 PMID:27604406 PMID:27943079 PMID:28229507 PMID:28492532 PMID:30275001 PMID:33857133 PMID:36311265 More...
NCBI chr 2:57,641,634...57,699,685
Ensembl chr 2:57,639,046...57,699,525
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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
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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
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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
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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
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CSF1
colony stimulating factor 1
ISO
RGD
PMID:18981160
RGD:7257572
NCBI chr20:23,615,107...23,635,399
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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
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TREX1
three prime repair exonuclease 1
ISO
MouseDO
NCBI chr22:9,869,502...9,871,659
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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
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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
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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
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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
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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
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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
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OGG1
8-oxoguanine DNA glycosylase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:33072095
NCBI chr22:45,757,414...45,763,690
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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
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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
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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
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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
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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
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CCR1
C-C motif chemokine receptor 1
disease_progression
ISO
RGD
PMID:15153561
RGD:5688164
NCBI chr22:7,634,205...7,641,380
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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
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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
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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
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CFH
complement factor H
ISO
RGD
PMID:22171659
RGD:5684551
NCBI chr25:32,557,697...32,744,763
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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
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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
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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
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CSF1
colony stimulating factor 1
ISO
RGD
PMID:17659436 PMID:21885670
RGD:7257567 RGD:7257589
NCBI chr20:23,615,107...23,635,399
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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
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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
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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 PMID:19965803 PMID:24033266 PMID:25741868 More...
NCBI chr20:2,480,710...2,512,429
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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
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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
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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
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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
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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
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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
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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
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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
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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
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LOC103223672
low affinity immunoglobulin gamma Fc region receptor II-b
ISO
RGD
PMID:15681388
RGD:7240529
NCBI chr20:2,398,425...2,413,328
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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SNRPE
small nuclear ribonucleoprotein polypeptide E
treatment
ISO
mouse model
RGD
PMID:15494537
RGD:10760401
NCBI chr25:25,474,620...25,483,427
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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
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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
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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
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TLR7
toll like receptor 7
ISO
RGD
PMID:19944565
RGD:7246905
NCBI chr X:11,348,520...11,372,132
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TNF
tumor necrosis factor
ISO
protein:increased expression:glomerular mesangial cell
RGD
PMID:7750940
RGD:7394786
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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
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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
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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
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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
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FCGR3A
Fc fragment of IgG receptor IIIa
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26773105
NCBI chr20:2,466,492...2,475,579
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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
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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
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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
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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
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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
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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
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AGTR2
angiotensin II receptor type 2
ISO
RGD
PMID:21900645
RGD:6892717
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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
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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
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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
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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
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ATRIP
ATR interacting protein
ISO
ClinVar Annotator: match by term: Systemic lupus erythematosus
ClinVar
PMID:16845398 PMID:17293595 PMID:17660818 PMID:17660820 PMID:17846997 PMID:18583934 PMID:18805785 PMID:20131292 PMID:21270825 PMID:21937424 PMID:23881107 PMID:24033266 PMID:24088041 PMID:24183309 PMID:24224166 PMID:24300241 PMID:25138095 PMID:25582466 PMID:25604658 PMID:25741868 PMID:25906927 PMID:26182405 PMID:26467025 PMID:26633545 PMID:27391121 PMID:28089741 PMID:28492532 PMID:28750028 PMID:28919362 PMID:29239743 PMID:29387804 PMID:29859840 PMID:30219631 PMID:31130681 PMID:31980526 PMID:32483926 PMID:32860008 PMID:33042144 PMID:33504652 PMID:33528079 PMID:34426522 PMID:35456422 PMID:36586737 More...
NCBI chr22:9,849,439...9,869,654
Ensembl chr22:9,849,570...9,869,553
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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
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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
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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 PMID:29663334 PMID:30191644 PMID:31101814 PMID:31670388 PMID:31683055 PMID:32313195 More...
NCBI chr 8:7,547,200...7,618,645
Ensembl chr 8:7,547,299...7,569,188
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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
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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
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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
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C3
complement C3
severity
ISO
protein:increased processing
RGD
PMID:7510492
RGD:11040772
NCBI chr 6:6,250,422...6,289,264
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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CD80
CD80 molecule
ISO
RGD
PMID:20653937
RGD:6902898
NCBI chr22:61,258,281...61,294,772
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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
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CFB
complement factor B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19838195
Ensembl chr17:40,069,909...40,094,207
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CFH
complement factor H
susceptibility
ISO
RGD
PMID:21637784
RGD:5684554
NCBI chr25:32,557,697...32,744,763
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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
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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
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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
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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
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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 PMID:26325596 PMID:28492532 PMID:28499783 PMID:32888943 More...
NCBI chr25:21,914,690...21,954,244
Ensembl chr25:21,919,393...21,953,659
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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
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CSF1
colony stimulating factor 1
ISO
RGD
PMID:15383612
RGD:7257578
NCBI chr20:23,615,107...23,635,399
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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
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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 PMID:11098935 PMID:11158025 PMID:15138458 PMID:15301861 PMID:15688186 PMID:19966213 PMID:24033266 PMID:25213377 PMID:25329329 PMID:25741868 PMID:26884280 PMID:27102614 PMID:27577878 PMID:28492532 PMID:28983403 PMID:29077208 PMID:29200144 PMID:29330115 PMID:29729943 PMID:30048690 PMID:30377434 PMID:30940614 PMID:32181586 PMID:32499327 PMID:33864888 PMID:34034269 PMID:34111452 PMID:34234304 PMID:34619682 PMID:34975878 PMID:35250968 PMID:35753512 More...
RGD:7204684
NCBI chr10:89,637,176...89,644,436
Ensembl chr10:89,638,314...89,642,344
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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
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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
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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
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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
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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 PMID:25741868 PMID:28492532 More...
NCBI chr 5:3,310,853...3,352,483
Ensembl chr 5:3,310,824...3,339,870
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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
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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
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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
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ELN
elastin
ISO
RGD
PMID:12643515
RGD:9585739
NCBI chr28:8,999,164...9,048,703
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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
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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
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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
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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
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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
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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
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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 PMID:18204446 PMID:21719445 More...
RGD:5147916 RGD:5147926 RGD:5147972 RGD:5147973 RGD:5147976 RGD:5147979 RGD:5147984
NCBI chr20:2,480,710...2,512,429
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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
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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
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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
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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
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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
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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
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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
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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
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IL12B
interleukin 12B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19838195 PMID:26808113
NCBI chr23:61,714,293...61,731,835
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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 PMID:17599733 PMID:18063667 PMID:25741868 More...
NCBI chr21:97,536,803...97,549,576
Ensembl chr21:97,537,790...97,549,945
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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
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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
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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
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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
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JAZF1
JAZF zinc finger 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19838195
NCBI chr21:30,190,380...30,539,062
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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
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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
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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
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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
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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
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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
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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
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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 PMID:16170323 PMID:17435165 PMID:18156625 PMID:20385827 PMID:20530521 PMID:26084639 More...
RGD:11056171 RGD:1547879 RGD:1547880 RGD:9588566 RGD:9588603
NCBI chr20:2,398,425...2,413,328
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LOC103224275
glutathione S-transferase Mu 1
susceptibility
ISO
DNA:deletion: :
RGD
PMID:20226777
RGD:5490989
NCBI chr20:23,854,969...23,861,634
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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
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LPA
lipoprotein(a)
ISO
protein:increased ezpression:serum
RGD
PMID:20026018
RGD:5509911
NCBI chr13:88,077,041...88,337,256
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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
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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
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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
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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 PMID:10854115 PMID:11464238 PMID:11464248 PMID:11588211 PMID:11903360 PMID:11938447 PMID:12955725 PMID:15024140 PMID:15458961 PMID:15717684 PMID:15805719 PMID:16439437 PMID:16627024 PMID:18097735 PMID:18328141 PMID:18662100 PMID:19820229 PMID:19929404 PMID:19967574 PMID:20041150 PMID:20301405 PMID:20437121 PMID:20483145 PMID:20534143 PMID:20602240 PMID:20669279 PMID:20890251 PMID:21358337 PMID:21598804 PMID:21995303 PMID:22261745 PMID:22532615 PMID:23400211 PMID:23588594 PMID:23592051 PMID:23844200 PMID:23907647 PMID:23973724 PMID:24082139 PMID:24289199 PMID:24318677 PMID:24433404 PMID:24797171 PMID:24965843 PMID:25073670 PMID:25261100 PMID:25393764 PMID:25741868 PMID:25866490 PMID:25959027 PMID:26131005 PMID:26215181 PMID:26360812 PMID:26467025 PMID:26537665 PMID:27364639 PMID:27457448 PMID:27994174 PMID:28001092 PMID:28492532 PMID:28573371 PMID:28927886 PMID:29080837 PMID:29314707 PMID:29599418 PMID:30915208 PMID:31204589 PMID:32312770 PMID:32741030 PMID:33497256 PMID:33560333 PMID:33715276 PMID:35490273 PMID:35780723 PMID:37481715 More...
NCBI chr 5:2,971,323...2,991,501
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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PARP1
poly(ADP-ribose) polymerase 1
ISO
RGD
PMID:17182544
RGD:11074797
NCBI chr25:3,350,798...3,405,040
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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
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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
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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
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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
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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
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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
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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
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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
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PPP2R2B
protein phosphatase 2 regulatory subunit Bbeta
ISO
RGD
PMID:21746932
RGD:5686291
NCBI chr23:49,164,026...49,645,347
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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RPL12
ribosomal protein L12
ISO
RGD
PMID:11161982
RGD:11035232
NCBI chr12:10,677,061...10,681,041
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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 PMID:23049788 PMID:25741868 PMID:28492532 More...
RGD:7207874 RGD:7207877
NCBI chr10:76,553,626...76,708,540
Ensembl chr10:76,553,606...76,674,928
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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 PMID:11826025 PMID:11896460 PMID:12485196 PMID:12746914 PMID:12759288 PMID:14681301 PMID:14718719 PMID:16418737 PMID:16720636 PMID:16865291 PMID:16909270 PMID:18050183 PMID:18713756 PMID:19365401 PMID:22760475 PMID:22992668 More...
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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
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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
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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
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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
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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
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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
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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
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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 PMID:18583934 PMID:18805785 PMID:20131292 PMID:21270825 PMID:21937424 PMID:23881107 PMID:24033266 PMID:24088041 PMID:24183309 PMID:24224166 PMID:24300241 PMID:25138095 PMID:25582466 PMID:25604658 PMID:25741868 PMID:25906927 PMID:26182405 PMID:26467025 PMID:26633545 PMID:27391121 PMID:28089741 PMID:28492532 PMID:28750028 PMID:28919362 PMID:29239743 PMID:29387804 PMID:29859840 PMID:30219631 PMID:31130681 PMID:31980526 PMID:32483926 PMID:32860008 PMID:33042144 PMID:33504652 PMID:33528079 PMID:34426522 PMID:35456422 PMID:36586737 More...
NCBI chr22:9,869,502...9,871,659
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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
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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
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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 PMID:28492532 PMID:30707351 More...
NCBI chr22:19,487,767...19,496,019
Ensembl chr22:19,487,596...19,496,129
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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
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