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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PCD1B
CD1B antigen
ameliorates
ISO
RGD
PMID:14561706
RGD:127345108
NCBI chr 4:92,035,122...92,040,724
Ensembl chr 4:92,031,712...92,040,742
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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 chr 6:80,586,259...80,589,213
Ensembl chr 6:80,586,280...80,589,204
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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 chr 6:80,601,680...80,606,076
Ensembl chr 6:80,601,665...80,607,471
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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 chr 6:80,592,591...80,597,464
Ensembl chr 6:80,592,473...80,597,452
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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 chr 6:80,586,259...80,589,213
Ensembl chr 6:80,586,280...80,589,204
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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 chr 6:80,601,680...80,606,076
Ensembl chr 6:80,601,665...80,607,471
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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 chr 6:80,592,591...80,597,464
Ensembl chr 6:80,592,473...80,597,452
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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 chr13:31,159,849...31,178,716
Ensembl chr13:31,159,843...31,178,715
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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 chr13:31,177,604...31,180,764
Ensembl chr13:31,179,291...31,180,747
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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 chr13:31,159,849...31,178,716
Ensembl chr13:31,159,843...31,178,715
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SAMHD1
SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27566796
NCBI chr17:40,117,348...40,171,935
Ensembl chr17:40,107,462...40,171,878
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STING1
stimulator of interferon response cGAMP interactor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27566796
NCBI chr 2:141,359,402...141,367,222
Ensembl chr 2:141,358,993...141,367,198
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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 chr13:31,177,604...31,180,764
Ensembl chr13:31,179,291...31,180,747
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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 chr17:40,117,348...40,171,935
Ensembl chr17:40,107,462...40,171,878
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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 chr17:40,105,500...40,118,743
Ensembl chr17:40,109,210...40,120,399
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CCR2
C-C motif chemokine receptor 2
ISO
RGD
PMID:21844117
RGD:6892918
NCBI chr13:29,251,950...29,286,470
Ensembl chr13:29,285,012...29,286,467
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CD40
CD40 molecule
ISO
RGD
PMID:18050371
RGD:8547765
NCBI chr17:48,286,116...48,298,188
Ensembl chr17:48,286,029...48,298,528
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CD40LG
CD40 ligand
ISO
RGD
PMID:18050371
RGD:8547765
NCBI chr X:111,778,666...111,788,901
Ensembl chr X:111,778,493...111,789,709
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CSF1
colony stimulating factor 1
ISO
RGD
PMID:18981160
RGD:7257572
NCBI chr 4:110,178,466...110,198,232
Ensembl chr 4:110,178,475...110,197,900
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IL17A
interleukin 17A
ISO
protein:increased expression:epidermis (human)
RGD
PMID:20493423
RGD:8698667
NCBI chr 7:46,013,584...46,017,161
Ensembl chr 7:46,013,584...46,017,153
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TREX1
three prime repair exonuclease 1
ISO
MouseDO
NCBI chr13:31,177,604...31,180,764
Ensembl chr13:31,179,291...31,180,747
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ANXA1
annexin A1
ISO
RGD
PMID:20701627
RGD:7421565
NCBI chr 1:226,414,200...226,431,963
Ensembl chr 1:226,414,306...226,432,279
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CD40
CD40 molecule
ISO
RGD
PMID:18050371
RGD:8547765
NCBI chr17:48,286,116...48,298,188
Ensembl chr17:48,286,029...48,298,528
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CD40LG
CD40 ligand
ISO
RGD
PMID:18050371
RGD:8547765
NCBI chr X:111,778,666...111,788,901
Ensembl chr X:111,778,493...111,789,709
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IL17A
interleukin 17A
ISO
protein:increased expression:epidermis (human)
RGD
PMID:20493423
RGD:8698667
NCBI chr 7:46,013,584...46,017,161
Ensembl chr 7:46,013,584...46,017,153
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OGG1
8-oxoguanine DNA glycosylase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:33072095
NCBI chr13:66,038,669...66,045,478
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TRAF3IP2
TRAF3 interacting protein 2
ISO
ClinVar Annotator: match by term: Discoid lupus erythematosus
ClinVar
PMID:25741868
NCBI chr 1:77,483,997...77,541,557
Ensembl chr 1:77,487,577...77,541,198
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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 chr 7:24,218,116...24,221,162
Ensembl chr 7:24,218,120...24,221,162
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APOC3
apolipoprotein C3
ISO
protein:increased expression:serum
RGD
PMID:17957542
RGD:7207211
NCBI chr 9:44,211,171...44,213,538
Ensembl chr 9:44,211,194...44,213,533
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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 2:72,431,470...72,471,622
Ensembl chr 2:72,431,212...72,472,228
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CCL2
chemokine (C-C motif) ligand 2
severity susceptibility
ISO
protein:increased expression:urine (human) DNA:snp:promoter:g.-2518A>G (human)
RGD
PMID:8558841 PMID:15188361
RGD:11528534 RGD:8549732
NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,026
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CCL3L1
chemokine (C-C motif) ligand 3-like 1
ISO
RGD
PMID:18187931
RGD:7241814
NCBI chr12:39,491,999...39,493,345
Ensembl chr12:39,491,914...39,493,774
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CCR1
C-C motif chemokine receptor 1
disease_progression
ISO
RGD
PMID:15153561
RGD:5688164
NCBI chr13:29,227,218...29,233,862
Ensembl chr13:29,227,222...29,233,960
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CD40
CD40 molecule
treatment
ISO
RGD
PMID:18566369 PMID:19265127 PMID:23799000
RGD:7248418 RGD:7248425 RGD:7248429
NCBI chr17:48,286,116...48,298,188
Ensembl chr17:48,286,029...48,298,528
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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:111,778,666...111,788,901
Ensembl chr X:111,778,493...111,789,709
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CFB
complement factor B
ISO
RGD
PMID:3183062 PMID:10623824 PMID:21893562
RGD:7242736 RGD:7242755 RGD:7242763
NCBI chr 7:24,034,077...24,040,523
Ensembl chr 7:24,034,332...24,041,179
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CFH
complement factor H
ISO
RGD
PMID:22171659
RGD:5684551
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CLU
clusterin
ISO
mRNA:increased expression: epithelial cell of renal tubule
RGD
PMID:9546356
RGD:8890679
NCBI chr14:11,336,585...11,352,569
Ensembl chr14:11,336,595...11,349,764
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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 chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,004
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CRP
C-reactive protein, pentraxin-related
no_association
ISO
DNA:SNP
RGD
PMID:15692982 PMID:17596285 PMID:18852001 PMID:20039408
RGD:5508454 RGD:6907400 RGD:6909145 RGD:6909146
NCBI chr 4:90,793,361...90,801,020
Ensembl chr 4:90,793,350...90,805,218
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CSF1
colony stimulating factor 1
ISO
RGD
PMID:17659436 PMID:21885670
RGD:7257567 RGD:7257589
NCBI chr 4:110,178,466...110,198,232
Ensembl chr 4:110,178,475...110,197,900
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CTLA4
cytotoxic T-lymphocyte associated protein 4
ISO
RGD
PMID:15146424
RGD:7204726
NCBI chr15:107,283,081...107,288,041
Ensembl chr15:107,282,927...107,289,103
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EGF
epidermal growth factor
ISO
RGD
PMID:21354048
RGD:5688301
NCBI chr 8:112,235,607...112,330,062
Ensembl chr 8:112,234,386...112,330,046
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FAS
Fas cell surface death receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:33632240 PMID:38555047
NCBI chr14:100,927,305...100,954,781
Ensembl chr14:100,927,089...100,956,716
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FCGR2B
Fc fragment of IgG, low affinity IIb, receptor (CD32)
ISO
RGD
PMID:15681388
RGD:7240529
NCBI chr 4:88,873,762...88,892,964
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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 chr 4:88,948,357...88,956,513
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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 chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,906...32,482,670
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IL17A
interleukin 17A
treatment
ISO
RGD
PMID:25129462
RGD:9244623
NCBI chr 7:46,013,584...46,017,161
Ensembl chr 7:46,013,584...46,017,153
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IL18
interleukin 18
ISO
RGD
PMID:20980973
RGD:6893449
NCBI chr 9:39,839,959...39,861,258
Ensembl chr 9:39,834,973...39,861,219
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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
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ITGAM
integrin subunit alpha M
ISO
RGD
PMID:21719445
RGD:5147916
NCBI chr 3:17,216,719...17,272,134
Ensembl chr 3:17,204,610...17,268,018
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JAK1
Janus kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31182691
NCBI chr 6:147,320,288...147,567,188
Ensembl chr 6:147,429,056...147,567,182
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KLKB1
kallikrein B1
susceptibility
ISO
DNA:SNPs:promoter:
RGD
PMID:19307730
RGD:7327150
NCBI chr15:47,071,581...47,100,272
Ensembl chr15:47,071,556...47,103,622
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LOC110258578
interleukin-1 beta-like
ISO
mRNA:increased expression:renal glomerulus (mouse)
RGD
PMID:20410215 PMID:21641991
RGD:7175315 RGD:7175344
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MBL2
mannose binding lectin 2
disease_progression
ISO
DNA:polymorphism:exon:
RGD
PMID:24850777
RGD:12910847
NCBI chr14:97,103,926...97,107,635
Ensembl chr14:97,102,823...97,108,083
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MIR125A
microRNA mir-125a
ISO
RNA:decreased expression:kidney
RGD
PMID:30972208
RGD:26884458
NCBI chr 6:58,331,566...58,331,645
Ensembl chr 6:58,331,566...58,331,645
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MMP2
matrix metallopeptidase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22479529
NCBI chr 6:30,059,247...30,087,031
Ensembl chr 6:30,058,595...30,086,982
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MMP9
matrix metallopeptidase 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22479529
NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788
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MPO
myeloperoxidase
susceptibility
ISO
DNA:polymorphism: :−463G > A (human)
RGD
PMID:17896805
RGD:7174701
NCBI chr12:34,557,031...34,570,091
Ensembl chr12:34,556,408...34,567,904
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MTOR
mechanistic target of rapamycin kinase
ISO
RGD
PMID:17283580
RGD:7245502
NCBI chr 6:71,286,989...71,412,913
Ensembl chr 6:71,286,989...71,412,888
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MUC20
mucin 20, cell surface associated
ISO
RGD
PMID:14565953
RGD:7364790
NCBI chr13:134,254,978...134,265,950
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NR3C1
nuclear receptor subfamily 3 group C member 1
ISO
RGD
PMID:17880936 PMID:21509671
RGD:7174713 RGD:7174734
NCBI chr 2:144,822,937...144,956,451
Ensembl chr 2:144,822,939...144,956,451
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OTUB1
OTU deubiquitinase, ubiquitin aldehyde binding 1
ISO
protein:increased expression:kidney
RGD
PMID:22279542
RGD:7175260
NCBI chr 2:8,088,528...8,095,555
Ensembl chr 2:8,087,829...8,095,609
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PDCD1
programmed cell death 1
onset
ISO
DNA:polymorphism:intron:6867 C>T (human) DNA:polymorphism: :
RGD
PMID:15352422 PMID:15934088 PMID:21041733
RGD:7248675 RGD:7248676 RGD:7248678
NCBI chr15:140,337,353...140,347,493
Ensembl chr15:140,336,258...140,347,478
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SELL
selectin L
ISO
RGD
PMID:20512127
RGD:7175284
NCBI chr 4:81,306,363...81,325,296
Ensembl chr 4:81,306,353...81,326,444
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SERPING1
serpin family G member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:4014294
NCBI chr 2:13,324,160...13,338,826
Ensembl chr 2:13,324,158...13,338,663
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SNRPE
small nuclear ribonucleoprotein polypeptide E
treatment
ISO
mouse model
RGD
PMID:15494537
RGD:10760401
NCBI chr 9:64,560,544...64,567,007
Ensembl chr 9:64,560,523...64,567,007
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STAT1
signal transducer and activator of transcription 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31182691
NCBI chr15:95,593,201...95,646,324
Ensembl chr15:95,593,211...95,646,260
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STAT4
signal transducer and activator of transcription 4
ISO
RGD
PMID:20980973
RGD:6893449
NCBI chr15:95,656,206...95,764,099
Ensembl chr15:95,656,077...95,763,472
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STAT6
signal transducer and activator of transcription 6
disease_progression
ISO
RGD
PMID:12874250
RGD:7244140
NCBI chr 5:22,406,356...22,422,412
Ensembl chr 5:22,406,368...22,421,989
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TLR7
toll like receptor 7
ISO
RGD
PMID:19944565
RGD:7246905
NCBI chr X:9,573,178...9,576,987
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TLR9
toll like receptor 9
no_association severity treatment
ISO
associated with Lupus Erythematosus, Systemic; DNA:snps:promoter, intron:g.-1486T>C, g.+1174A>G (rs187084, rs352139) (human, North Indian) mRNA, protein:increased expression:kidney (mouse) associated with Graft vs Host Disease DNA:snps:intron, exon:g.+1174G>A, g.+1635C>T (rs352139, rs352140) (human, Chinese) protein:increased expression:renal glomerulus (human)
RGD
PMID:17469139 PMID:19578108 PMID:20497632 PMID:21127878 PMID:22787315 PMID:23467932 More...
RGD:7245987 RGD:7245989 RGD:7246884 RGD:7246896 RGD:7246897 RGD:7246911
NCBI chr13:34,353,444...34,370,990
Ensembl chr13:34,349,609...34,357,673
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TNF
tumor necrosis factor
ISO
protein:increased expression:glomerular mesangial cell
RGD
PMID:7750940
RGD:7394786
NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,415
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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 4:19,850,212...19,879,132
Ensembl chr 4:19,850,350...19,879,125
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TNFRSF1A
TNF receptor superfamily member 1A
severity
ISO
RGD
PMID:10906156 PMID:19201910
RGD:7245569 RGD:7245572
NCBI chr 5:64,319,349...64,331,876
Ensembl chr 5:64,319,051...64,331,909
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TNFRSF1B
TNF receptor superfamily member 1B
treatment
ISO
RGD
PMID:22674120 PMID:22846145
RGD:7245541 RGD:7245544
NCBI chr 6:72,195,420...72,231,146
Ensembl chr 6:72,195,435...72,231,147
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VCAM1
vascular cell adhesion molecule 1
severity
ISO
protein:increased expression:urine
RGD
PMID:22788914
RGD:7241032
NCBI chr 4:117,496,914...117,511,211
Ensembl chr 4:117,496,920...117,511,222
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FCGR3A
Fc fragment of IgG receptor IIIa
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26773105
NCBI chr 4:88,948,357...88,956,513
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INA
internexin neuronal intermediate filament protein alpha
severity
ISO
RGD
PMID:20559547
RGD:40886275
NCBI chr14:114,227,998...114,240,566
Ensembl chr14:114,227,993...114,240,558
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ITGAM
integrin subunit alpha M
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26773105
NCBI chr 3:17,216,719...17,272,134
Ensembl chr 3:17,204,610...17,268,018
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SELP
selectin P
ISO
RGD
PMID:20179168
RGD:6478687
NCBI chr 4:81,376,804...81,401,240
Ensembl chr 4:81,365,740...81,399,955
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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 chr 1:273,022,014...273,066,916
Ensembl chr 1:273,024,009...273,056,039
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ADIPOQ
adiponectin, C1Q and collagen domain containing
ISO
RGD
PMID:19109165
RGD:5686827
NCBI chr13:124,633,906...124,646,237
Ensembl chr13:124,633,685...124,646,646
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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 chr 7:24,218,116...24,221,162
Ensembl chr 7:24,218,120...24,221,162
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AGTR2
angiotensin II receptor type 2
ISO
RGD
PMID:21900645
RGD:6892717
NCBI chr X:95,267,709...95,272,237
Ensembl chr X:95,269,300...95,270,388
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ANXA3
annexin A3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22446963
NCBI chr 8:73,970,314...73,993,039
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APOA1
apolipoprotein A1
treatment severity
ISO
RGD
PMID:20131231 PMID:20482780
RGD:7241863 RGD:7241864
NCBI chr 9:44,216,481...44,218,360
Ensembl chr 9:44,216,392...44,218,713
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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 chr 1:72,343,950...72,520,402
Ensembl chr 1:72,270,799...72,520,396
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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 chr13:67,301,756...67,699,141
Ensembl chr13:67,417,938...67,707,654
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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 chr13:31,159,849...31,178,716
Ensembl chr13:31,159,843...31,178,715
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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 8:118,814,352...119,114,973
Ensembl chr 8:118,814,061...119,157,504
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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 chr12:20,041,914...20,054,249
Ensembl chr12:20,041,956...20,054,373
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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 chr14:14,688,489...14,745,946
Ensembl chr14:14,688,943...14,745,947
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BLTP3A
bridge-like lipid transfer protein family member 3A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19838195
NCBI chr 7:30,731,466...30,799,958
Ensembl chr 7:30,731,461...30,802,735
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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 chr 6:80,586,259...80,589,213
Ensembl chr 6:80,586,280...80,589,204
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C2
complement C2
ISO
RGD
PMID:6409476
RGD:7421516
NCBI chr 7:24,020,590...24,034,042
Ensembl chr 7:24,020,290...24,034,039
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C3
complement C3
severity
ISO
protein:increased processing
RGD
PMID:7510492
RGD:11040772
NCBI chr 2:72,431,470...72,471,622
Ensembl chr 2:72,431,212...72,472,228
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C3AR1
complement C3a receptor 1
ISO
protein:increased expression:lung, leukocyte
RGD
PMID:17544263
RGD:5129560
NCBI chr 5:63,088,778...63,098,750
Ensembl chr 5:63,088,778...63,098,750
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C4A
complement C4A (Rodgers blood group)
ISO
OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420
RGD MouseDO
PMID:17503323
RGD:5688260
NCBI chr 7:24,068,019...24,083,060
Ensembl chr 7:24,068,013...24,083,065
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C5AR1
complement C5a receptor 1
ISO
protein:increased expression:lung, leukocyte
RGD
PMID:17544263
RGD:5129560
NCBI chr 6:53,097,162...53,111,563
Ensembl chr 6:53,097,142...53,111,565
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CA1
carbonic anhydrase 1
ISO
RGD
PMID:12806141
RGD:408425977
NCBI chr 4:51,343,548...51,353,127
Ensembl chr 4:51,302,406...51,353,126
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CA2
carbonic anhydrase 2
ISO
RGD
PMID:12806141
RGD:408425977
NCBI chr 4:51,194,686...51,211,436
Ensembl chr 4:51,193,756...51,211,259
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CAST
calpastatin
ISO
RGD
PMID:12367559
RGD:5683623
NCBI chr 2:103,255,738...103,378,623
Ensembl chr 2:103,255,750...103,378,623
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CAT
catalase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27497885
NCBI chr 2:26,493,664...26,533,881
Ensembl chr 2:26,487,653...26,581,452
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CCL2
chemokine (C-C motif) ligand 2
no_association susceptibility
ISO
DNA:snp:promoter:g.-2518A>G (human)
RGD
PMID:11844145 PMID:20414371
RGD:11528535 RGD:11528536
NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,026
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CCL4
C-C motif chemokine ligand 4
disease_progression
ISO
protein:increased expression:serum
RGD
PMID:16924394
RGD:5683895
NCBI chr12:39,479,190...39,480,511
Ensembl chr12:39,478,882...39,481,082
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CCR2
C-C motif chemokine receptor 2
severity
ISO
RGD
PMID:21180278
RGD:6893428
NCBI chr13:29,251,950...29,286,470
Ensembl chr13:29,285,012...29,286,467
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CCR5
C-C motif chemokine receptor 5
ISO
mRNA:increased expression:blood, mononuclear cell
RGD
PMID:21180278
RGD:6893428
NCBI chr13:29,382,383...29,387,902
Ensembl chr13:29,383,303...29,387,895
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CD226
CD226 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26808113
NCBI chr 1:152,872,878...152,977,162
Ensembl chr 1:152,882,762...152,979,845
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CD4
CD4 molecule
treatment
ISO
RGD
PMID:7914411
RGD:10058961
NCBI chr 5:63,892,129...63,918,547
Ensembl chr 5:63,892,137...63,918,519
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CD40
CD40 molecule
susceptibility
ISO
DNA:SNP: :rs4810485 (human) DNA:SNP: :rs3765456 (human)
RGD
PMID:21914625 PMID:23256180
RGD:5490522 RGD:7248721
NCBI chr17:48,286,116...48,298,188
Ensembl chr17:48,286,029...48,298,528
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CD40LG
CD40 ligand
ISO
CTD Direct Evidence: marker/mechanism protein:increased expression:serum OMIM:152700 | OMIM:300809 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420
CTD RGD MouseDO
PMID:9036998 PMID:20726330 PMID:28793932
RGD:11352248 RGD:7248426
NCBI chr X:111,778,666...111,788,901
Ensembl chr X:111,778,493...111,789,709
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CD46
CD46 molecule, complement regulatory protein
severity
ISO
mRNA:increased expression:leukocyte (human)
RGD
PMID:22247341
RGD:6483457
NCBI chr 9:135,025,439...135,078,910
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CD80
CD80 molecule
ISO
RGD
PMID:20653937
RGD:6902898
NCBI chr13:140,693,312...140,730,541
Ensembl chr13:140,693,382...140,728,976
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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 chr 7:32,354,776...32,363,771
Ensembl chr 7:32,354,672...32,363,761
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CFB
complement factor B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19838195
NCBI chr 7:24,034,077...24,040,523
Ensembl chr 7:24,034,332...24,041,179
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CFH
complement factor H
susceptibility
ISO
RGD
PMID:21637784
RGD:5684554
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CHAF1A
chromatin assembly factor 1 subunit A
ISO
RGD
PMID:24836587
RGD:9587742
NCBI chr 2:74,380,706...74,411,875
Ensembl chr 2:74,380,709...74,411,825
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CIITA
class II major histocompatibility complex transactivator
no_association resistance
ISO
DNA:polymorphism:promoter:rs3087456 DNA:polymorphism:promoter:rs3087456A, in a Japanese cohort A allele was protective/decreased risk of developing disease (p=0.006) DNA:polymorphism:intron:g.485A>G
RGD
PMID:15897313 PMID:17693604 PMID:17711409
RGD:5491190 RGD:5491203 RGD:5491204
NCBI chr 3:32,171,706...32,230,775
Ensembl chr 3:32,172,214...32,230,780
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CLEC16A
C-type lectin domain containing 16A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19838195
NCBI chr 3:31,938,133...32,158,343
Ensembl chr 3:31,938,135...32,158,320
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CLU
clusterin
ISO
protein:decreased expression:serum CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:10090169 PMID:15304052
RGD:8696021
NCBI chr14:11,336,585...11,352,569
Ensembl chr14:11,336,595...11,349,764
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CRP
C-reactive protein, pentraxin-related
no_association treatment disease_progression
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:8261665 PMID:17014014 PMID:17718048 PMID:20039408
RGD:6907402 RGD:6909144 RGD:6909146
NCBI chr 4:90,793,361...90,801,020
Ensembl chr 4:90,793,350...90,805,218
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CSF1
colony stimulating factor 1
ISO
RGD
PMID:15383612
RGD:7257578
NCBI chr 4:110,178,466...110,198,232
Ensembl chr 4:110,178,475...110,197,900
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CSK
C-terminal Src kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23042117
NCBI chr 7:58,736,473...58,755,034
Ensembl chr 7:58,736,531...58,755,260
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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 chr15:107,283,081...107,288,041
Ensembl chr15:107,282,927...107,289,103
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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 chr13:23,944,386...23,957,567
Ensembl chr13:23,944,369...23,957,486
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CXCR2
C-X-C motif chemokine receptor 2
severity
ISO
RGD
PMID:14596426
RGD:7257684
NCBI chr15:120,219,657...120,230,203
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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
NCBI chr X:33,654,656...33,678,346
Ensembl chr X:33,643,648...33,680,580
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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 chr 7:58,802,887...58,809,155
Ensembl chr 7:58,802,887...58,809,775
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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 chr 7:31,191,788...31,216,436
Ensembl chr 7:31,193,858...31,216,414
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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 3:38,590,045...38,646,852
Ensembl chr 3:38,586,602...38,646,833
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DNASE1L3
deoxyribonuclease 1L3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22019780
NCBI chr13:39,958,384...39,976,114
Ensembl chr13:39,958,387...39,975,946
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DNASE2
deoxyribonuclease 2, lysosomal
ISO
ClinVar Annotator: match by term: Systemic lupus erythematosus
ClinVar
NCBI chr 2:66,150,071...66,152,857
Ensembl chr 2:66,149,862...66,152,855
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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 2:68,981,564...69,040,364
Ensembl chr 2:68,981,566...69,029,844
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ELN
elastin
ISO
RGD
PMID:12643515
RGD:9585739
NCBI chr 3:11,214,194...11,245,891
Ensembl chr 3:11,214,205...11,244,897
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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 chr 1:268,309,379...268,343,861
Ensembl chr 1:268,309,400...268,343,783
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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 chr 5:7,311,165...7,394,515
Ensembl chr 5:7,311,171...7,393,760
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EPOR
erythropoietin receptor
ISO
RGD
PMID:23151030
RGD:11041604
NCBI chr 2:70,063,601...70,068,821
Ensembl chr 2:70,063,519...70,068,821
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ESR2
estrogen receptor 2
susceptibility
ISO
mRNA:decreased expression:leukocyte,mononuclear DNA:repeats:intron: DNA:SNP: :rs4986938 (human) mRNA:increased expression: :
RGD
PMID:17336162 PMID:17874259 PMID:20305046 PMID:20627037 PMID:20961965
RGD:5508738 RGD:5508813 RGD:5508817 RGD:5508843 RGD:5508844
NCBI chr 1:193,823,666...193,907,330
Ensembl chr 1:193,829,560...193,906,565
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ETS1
ETS proto-oncogene 1, transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19838193
NCBI chr 9:55,377,264...55,512,180
Ensembl chr 9:55,377,266...55,512,115
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F2
coagulation factor II, thrombin
susceptibility
ISO
DNA:SNP: :19911A>G (rs3136516) (human)
RGD
PMID:20807656 PMID:21239755
RGD:5147772 RGD:5147776
NCBI chr 2:15,793,257...15,819,151
Ensembl chr 2:15,791,455...15,819,137
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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 chr17:56,941,794...56,953,361
Ensembl chr17:56,941,630...56,953,361
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FAS
Fas cell surface death receptor
susceptibility
ISO
protein:increased expression:serum (human) protein:increased expression:T lymphocyte: DNA:snps:promoter:g.-1377G>A, g.-670A>G (human) OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 CTD Direct Evidence: marker/mechanism
RGD MouseDO CTD
PMID:7531628 PMID:9182923 PMID:23053964 PMID:36999444
RGD:11049450 RGD:8662433 RGD:8662437
NCBI chr14:100,927,305...100,954,781
Ensembl chr14:100,927,089...100,956,716
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FCGR2B
Fc fragment of IgG, low affinity IIb, receptor (CD32)
no_association severity treatment susceptibility
ISO
DNA:SNPs:exon, intron:10849T>C (rs1050501), 10950T>G (rs6666965) (human) DNA:SNP:intron:11045G>T (rs12117530) (human) ClinVar Annotator: match by term: Systemic lupus erythematosus, susceptibility to DNA:snp:promoter:g.-386G>C (rs3219018) (human) DNA:snps, haplotype:promoter:g.-386G>C, g.-120T>A (human)
RGD ClinVar OMIM
PMID:12115230 PMID:15153543 PMID:15459183 PMID:15895258 PMID:16115811 PMID:16170323 PMID:17435165 PMID:18156625 PMID:20385827 PMID:20530521 PMID:26084639 More...
RGD:11056171 RGD:1547879 RGD:1547880 RGD:9588566 RGD:9588603
NCBI chr 4:88,873,762...88,892,964
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FCGR3A
Fc fragment of IgG receptor IIIa
susceptibility
ISO
protein:decreased expression:NK cell DNA:CNVs DNA:SNPs:exon:rs403016,rs428888(human)
RGD
PMID:18625651 PMID:21370226 PMID:25154742
RGD:11344974 RGD:5508389 RGD:5508444
NCBI chr 4:88,948,357...88,956,513
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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 chr 6:144,940,702...144,944,089
Ensembl chr 6:144,940,697...144,944,089
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HSPA1L
heat shock protein family A (Hsp70) member 1 like
ISO
DNA:SNPs: :rs2075800, rs2227956 (human)
RGD
PMID:20498198
RGD:5147600
NCBI chr 7:23,909,960...23,938,678
Ensembl chr 7:23,910,079...23,914,517
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HSPD1
heat shock protein family D (Hsp60) member 1
ISO
protein:increased expression:serum:
RGD
PMID:8255671
RGD:12910480
NCBI chr15:101,360,355...101,373,498
Ensembl chr15:101,360,094...101,373,526
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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 chr15:68,930,998...68,985,145
Ensembl chr15:68,928,254...68,985,083
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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 chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,906...32,482,670
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IKZF1
IKAROS family zinc finger 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19838193
NCBI chr 9:136,372,202...136,464,942
Ensembl chr 9:136,372,725...136,464,940
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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 chr12:22,466,386...22,562,320
Ensembl chr12:22,466,414...22,562,312
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IL10
interleukin 10
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:12486603 PMID:19838195 PMID:20728533
RGD:1580478
NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,728...67,405,378
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IL12B
interleukin 12B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19838195 PMID:26808113
NCBI chr16:64,143,268...64,158,929
Ensembl chr16:64,143,268...64,158,929
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IL13
interleukin 13
ISO
protein:increased expression:serum
RGD
PMID:12051401
RGD:8549582
NCBI chr 2:134,972,099...134,976,672
Ensembl chr 2:134,972,623...134,975,093
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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 chr 7:46,013,584...46,017,161
Ensembl chr 7:46,013,584...46,017,153
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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
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IL2
interleukin 2
ISO
RGD
PMID:6421522
RGD:8662948
NCBI chr 8:101,640,938...101,645,683
Ensembl chr 8:101,640,944...101,645,609
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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 8:101,532,742...101,540,712
Ensembl chr 8:101,532,531...101,541,713
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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 3:19,447,488...19,489,201
Ensembl chr 3:19,443,359...19,489,152
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IL23R
interleukin 23 receptor
ISO
protein:increased expression:T cell:
RGD
PMID:21110900
RGD:8549601
NCBI chr 6:145,337,765...145,401,909
Ensembl chr 6:145,335,741...145,401,510
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IL4
interleukin 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18158872
NCBI chr 2:134,986,817...134,994,365
Ensembl chr 2:134,986,817...134,994,365
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IL5
interleukin 5
ISO
RGD
PMID:23054011
RGD:7241039
NCBI chr 2:134,832,143...134,846,141
Ensembl chr 2:134,832,147...134,835,212
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IL6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18158872
NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263
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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 chr15:133,501,067...133,626,647
Ensembl chr15:133,501,092...133,626,644
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IRAK4
interleukin 1 receptor associated kinase 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28003376
NCBI chr 5:74,842,184...74,858,125
Ensembl chr 5:74,834,600...74,859,344
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IRF5
interferon regulatory factor 5
susceptibility
ISO
ClinVar Annotator: match by term: Systemic lupus erythematosus, association with susceptibility to, 10 | ClinVar Annotator: match by term: Systemic lupus erythematosus, susceptibility to, 10
ClinVar OMIM
PMID:15657875 PMID:16642019 PMID:17189288 PMID:17393452 PMID:17476532 PMID:17599733 PMID:18063667 PMID:25741868 More...
NCBI chr18:19,678,377...19,691,154
Ensembl chr18:19,678,687...19,691,243
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IRF8
interferon regulatory factor 8
susceptibility
ISO
DNA:SNP: (rs4843869) (human)
RGD
PMID:27021335
RGD:329961559
NCBI chr 6:3,041,617...3,060,685
Ensembl chr 6:3,041,645...3,097,406
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ITGAM
integrin subunit alpha M
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18204446 PMID:18204448
NCBI chr 3:17,216,719...17,272,134
Ensembl chr 3:17,204,610...17,268,018
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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 chr 6:147,320,288...147,567,188
Ensembl chr 6:147,429,056...147,567,182
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JAK2
Janus kinase 2
ISO
RGD
PMID:21880982
RGD:6483022
NCBI chr 1:216,849,744...217,002,310
Ensembl chr 1:216,848,689...217,002,148
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JAZF1
JAZF zinc finger 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19838195
NCBI chr18:44,488,530...44,827,101
Ensembl chr18:44,488,511...44,827,091
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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 2:66,214,086...66,219,435
Ensembl chr 2:66,214,138...66,217,002
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KLKB1
kallikrein B1
susceptibility
ISO
DNA:SNPs:promoter:
RGD
PMID:19307730
RGD:7327150
NCBI chr15:47,071,581...47,100,272
Ensembl chr15:47,071,556...47,103,622
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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 chr10:13,389,896...13,416,831
Ensembl chr10:13,386,946...13,416,759
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LDLR
low density lipoprotein receptor
ISO
mRNA:decreased expression:leukocyte
RGD
PMID:19811272
RGD:5490253
NCBI chr 2:69,828,348...69,864,823
Ensembl chr 2:69,828,332...69,864,827
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LOC100515551
sialic acid-binding Ig-like lectin 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26808113
NCBI chr 6:55,781,438...55,791,954
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LOC100739087
60S ribosomal protein L14-like
ISO
RGD
PMID:12051391
RGD:11036103
NCBI chr 1:56,689,050...56,689,768
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LOC110258578
interleukin-1 beta-like
ISO
DNA:SNPs, haplotype:promoter:-511C>T, 3953C>T (human) mRNA:increased expression:kidney (human)
RGD
PMID:15470475 PMID:22660635
RGD:155663483 RGD:7401214
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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 4:75,793,273...75,903,710
Ensembl chr 4:75,793,492...75,903,496
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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 chr 2:114,675,786...114,853,133
Ensembl chr 2:114,675,917...114,855,548
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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 chr14:97,103,926...97,107,635
Ensembl chr14:97,102,823...97,108,083
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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 3:38,934,573...38,948,609
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MIR196A-2
microRNA mir-196a-2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27816459
NCBI chr 5:19,204,442...19,204,548
Ensembl chr 5:19,204,442...19,204,548
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MIR23B
microRNA mir-23b
treatment
ISO
mRNA:decreased expression:kidney (mouse) mRNA, protein:decreased expression:kidney (human)
RGD
PMID:22660635
RGD:155663483
NCBI chr10:27,080,197...27,080,276
Ensembl chr10:27,080,197...27,080,276
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MKI67
marker of proliferation Ki-67
ISO
RGD
PMID:21693493
RGD:6483529
NCBI chr14:137,266,622...137,296,312
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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 chr12:31,695,843...31,723,723
Ensembl chr12:31,695,851...31,723,712
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MMP1
matrix metallopeptidase 1
ISO
protein:increased expression:plasma (human)
RGD
PMID:9972954
RGD:7207129
NCBI chr 9:33,411,738...33,420,205
Ensembl chr 9:33,411,065...33,420,076
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MT-ATP6
mitochondrially encoded ATP synthase membrane subunit 6
ISO
DNA:transition:cds:m.9055A>G (human)
RGD
PMID:18708297
RGD:5490259
NCBI chr MT:9,120...9,800
Ensembl chr MT:9,120...9,800
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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 2:9,137,818...9,146,966
Ensembl chr 2:9,137,946...9,146,961
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NCF1
neutrophil cytosolic factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28135245
NCBI chr 3:11,820,367...11,834,394
Ensembl chr 3:11,820,266...11,839,354
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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 6:34,132,127...34,167,446
Ensembl chr 6:34,130,938...34,177,534
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NOS2
nitric oxide synthase 2
ISO
mRNA:increased expression:bone marrow macrophage (mouse)
RGD
PMID:22011580
RGD:5508848
NCBI chr12:44,174,944...44,219,875
Ensembl chr12:44,174,948...44,218,146
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P2RY12
purinergic receptor P2Y12
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:15304052
RGD:6480537
NCBI chr13:91,522,754...91,572,195
Ensembl chr13:91,521,817...91,572,005
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PARP1
poly(ADP-ribose) polymerase 1
ISO
RGD
PMID:17182544
RGD:11074797
NCBI chr10:14,203,157...14,241,164
Ensembl chr10:14,203,160...14,241,196
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PCNX3
pecanex 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26808113
NCBI chr 2:6,619,213...6,639,933
Ensembl chr 2:6,619,215...6,639,953
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PDCD1
programmed cell death 1
ISO
OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 DNA:polymorphism: : 7,146 G>A (human)
MouseDO RGD
PMID:17228327 PMID:19116915
RGD:7248674 RGD:7248679
NCBI chr15:140,337,353...140,347,493
Ensembl chr15:140,336,258...140,347,478
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PGF
placental growth factor
ISO
protein:increased expression:serum
RGD
PMID:19276301
RGD:6483612
NCBI chr 7:98,149,510...98,162,784
Ensembl chr 7:98,148,994...98,162,741
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PHRF1
PHD and ring finger domains 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18204446
NCBI chr 2:340,536...371,699
Ensembl chr 2:340,528...371,692
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PIK3CG
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma
ISO
RGD
PMID:16365454
RGD:6482698
NCBI chr 9:106,698,200...106,748,217
Ensembl chr 9:106,698,207...106,745,099
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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
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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 chr17:11,356,130...11,388,122
Ensembl chr17:11,356,129...11,388,821
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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 chr13:68,301,566...68,433,951
Ensembl chr13:68,302,322...68,433,944
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PPP2R2B
protein phosphatase 2 regulatory subunit Bbeta
ISO
RGD
PMID:21746932
RGD:5686291
NCBI chr 2:147,938,074...148,422,825
Ensembl chr 2:147,937,442...148,411,731
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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 chr 1:72,309,096...72,335,474
Ensembl chr 1:72,311,880...72,335,466
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PRF1
perforin 1
severity
ISO
RGD
PMID:21906646
RGD:6482798
NCBI chr14:73,515,306...73,520,256
Ensembl chr14:73,512,769...73,520,202
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PRL
prolactin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14870917
NCBI chr 7:17,451,367...17,463,771
Ensembl chr 7:17,451,367...17,463,710
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PTGS2
prostaglandin-endoperoxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17761345
NCBI chr 9:127,850,164...127,858,866
Ensembl chr 9:127,850,015...127,858,884
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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 chr 4:106,692,102...106,758,101
Ensembl chr 4:106,686,604...106,758,099
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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 chr10:21,482,984...21,601,627
Ensembl chr10:21,560,073...21,601,308
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PXK
PX domain containing serine/threonine kinase like
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18204446
NCBI chr13:40,079,238...40,160,387
Ensembl chr13:40,074,466...40,160,380
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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 chr 1:132,702,495...132,786,536
Ensembl chr 1:132,702,541...132,786,532
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RASGRP3
RAS guanyl releasing protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19838193
NCBI chr 3:106,098,541...106,213,787
Ensembl chr 3:106,099,821...106,213,728
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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 chr 9:67,157,167...67,237,366
Ensembl chr 9:67,157,167...67,237,365
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RC3H1
ring finger and CCCH-type domains 1
ISO
OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420
MouseDO
NCBI chr 9:116,204,807...116,292,455
Ensembl chr 9:116,208,799...116,292,381
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RETN
resistin
ISO
RGD
PMID:21885493
RGD:7207148
NCBI chr 2:71,484,164...71,485,577
Ensembl chr 2:71,484,169...71,485,616
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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 chr10:694,335...725,378
Ensembl chr10:694,445...725,346
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RPL12
ribosomal protein L12
ISO
RGD
PMID:11161982
RGD:11035232
NCBI chr 1:267,961,398...267,964,881
Ensembl chr 1:267,961,404...267,964,881
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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 chr13:134,299,971...134,363,620
Ensembl chr13:134,299,152...134,353,374
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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 chr 1:273,698,842...273,797,622
Ensembl chr 1:273,705,505...273,797,620
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SELL
selectin L
ISO
RGD
PMID:20512127
RGD:7175284
NCBI chr 4:81,306,363...81,325,296
Ensembl chr 4:81,306,353...81,326,444
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SFTPD
surfactant protein D
ISO
protein:decreased expression:serum
RGD
PMID:19833760
RGD:4143493
NCBI chr14:82,051,400...82,069,258
Ensembl chr14:82,051,451...82,067,976
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SH2B3
SH2B adaptor protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19838195
NCBI chr14:32,623,286...32,664,606
Ensembl chr14:32,623,286...32,664,606
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SLC11A1
solute carrier family 11 member 1
ISO
DNA:deletion:3' utr: (human)
RGD
PMID:21233146
RGD:5684928
NCBI chr15:120,434,100...120,446,396
Ensembl chr15:120,433,952...120,446,396
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SLC15A4
solute carrier family 15 member 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19838193
NCBI chr14:26,122,362...26,154,414
Ensembl chr14:26,122,386...26,154,781
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SNRNP70
small nuclear ribonucleoprotein U1 subunit 70
ISO
RGD
PMID:10940910 PMID:22454191
RGD:10448935 RGD:10448939
NCBI chr 6:54,288,354...54,304,272
Ensembl chr 6:54,288,397...54,304,103
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SNRPC
small nuclear ribonucleoprotein polypeptide C
ISO
RGD
PMID:8647956
RGD:10766446
NCBI chr 7:30,708,243...30,723,480
Ensembl chr 7:30,708,332...30,724,045
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SNRPD1
small nuclear ribonucleoprotein D1 polypeptide
severity
ISO
mouse model
RGD
PMID:12571858
RGD:10755713
NCBI chr 6:106,798,201...106,810,178
Ensembl chr 6:106,798,265...106,813,816
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SNRPD2
small nuclear ribonucleoprotein D2 polypeptide
ISO
RGD
PMID:11823543
RGD:10766471
NCBI chr 6:52,035,900...52,042,474
Ensembl chr 6:52,035,134...52,042,474
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SNRPD3
small nuclear ribonucleoprotein D3 polypeptide
ISO
RGD
PMID:17640359
RGD:10755704
NCBI chr14:49,585,177...49,598,015
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SOCS1
suppressor of cytokine signaling 1
ISO
ClinVar Annotator: match by term: Systemic lupus erythematosus
ClinVar
PMID:33087723
NCBI chr 3:31,879,143...31,883,041
Ensembl chr 3:31,881,225...31,884,967
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SOD2
superoxide dismutase 2
ISO
DNA:SNP, haplotype: :1183C>T (human)
RGD
PMID:14611903
RGD:1581249
NCBI chr 1:7,679,352...7,689,564
Ensembl chr 1:7,679,352...7,689,560
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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 chr15:95,656,206...95,764,099
Ensembl chr15:95,656,077...95,763,472
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SYNGR1
synaptogyrin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26808113
NCBI chr 5:8,870,641...8,902,267
Ensembl chr 5:8,870,645...8,902,270
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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 chr 1:16,533,364...16,611,879
Ensembl chr 1:16,533,285...16,611,884
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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:26,632,547...26,729,039
Ensembl chr X:26,632,551...26,729,051
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TAP1
transporter 1, ATP binding cassette subfamily B member
no_association
ISO
RGD
PMID:9014588
RGD:6482277
NCBI chr 7:25,062,772...25,071,989
Ensembl chr 7:25,062,768...25,074,843
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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 chr 7:25,045,085...25,056,915
Ensembl chr 7:25,043,840...25,056,922
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TCF7
transcription factor 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26808113
NCBI chr 2:136,422,740...136,456,323
Ensembl chr 2:136,422,940...136,457,910
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TERT
telomerase reverse transcriptase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26808113
NCBI chr16:79,258,591...79,276,421
Ensembl chr16:79,258,591...79,276,421
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TFPI
tissue factor pathway inhibitor
ISO
protein:decreased expression:plasma:
RGD
PMID:11709459
RGD:11060258
NCBI chr15:92,345,083...92,409,962
Ensembl chr15:92,345,075...92,409,905
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THBD
thrombomodulin
ISO
protein:increased expression:serum
RGD
PMID:18484695
RGD:5684995
NCBI chr17:30,219,870...30,223,499
Ensembl chr17:30,217,303...30,224,099
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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 chr16:66,253,572...66,292,963
Ensembl chr16:66,253,604...66,292,961
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TLR4
toll like receptor 4
ISO
RGD
PMID:19841185
RGD:7241088
NCBI chr 1:258,044,610...258,054,641
Ensembl chr 1:258,044,610...258,058,970
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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 chr10:19,387,666...19,410,024
Ensembl chr10:19,387,666...19,410,024
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TLR7
toll like receptor 7
ISO
ClinVar Annotator: match by term: Systemic lupus erythematosus
ClinVar
PMID:35477763
NCBI chr X:9,573,178...9,576,987
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TLR9
toll like receptor 9
severity susceptibility
ISO
DNA:snp:exon:c.1635C>T rs352140 (human) mRNA:increased expression:B lymphocyte (mouse)
RGD
PMID:16973389 PMID:19130296 PMID:21592581
RGD:5130767 RGD:7245988 RGD:7246894
NCBI chr13:34,353,444...34,370,990
Ensembl chr13:34,349,609...34,357,673
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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...
NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,415
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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 chr 1:26,474,158...26,489,771
Ensembl chr 1:26,473,938...26,489,822
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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 chr12:61,245,976...61,270,154
Ensembl chr12:61,246,062...61,270,146
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TNFRSF1A
TNF receptor superfamily member 1A
severity
ISO
protein:increased expression:serum
RGD
PMID:8393677
RGD:7245539
NCBI chr 5:64,319,349...64,331,876
Ensembl chr 5:64,319,051...64,331,909
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TNFRSF1B
TNF receptor superfamily member 1B
no_association severity
ISO
DNA:missense mutation:cds:p.M196R (human) protein:increased expression:serum
RGD
PMID:8393677 PMID:11607787
RGD:7245539 RGD:7245571
NCBI chr 6:72,195,420...72,231,146
Ensembl chr 6:72,195,435...72,231,147
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TNFSF4
TNF superfamily member 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18059267 PMID:19838193
NCBI chr 9:115,535,185...115,857,457
Ensembl chr 9:115,550,569...115,659,263
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TNIP1
TNFAIP3 interacting protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19838193 PMID:19838195
NCBI chr16:71,926,038...71,979,969
Ensembl chr16:71,926,133...71,979,966
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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 chr 1:77,483,997...77,541,557
Ensembl chr 1:77,487,577...77,541,198
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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 chr13:31,177,604...31,180,764
Ensembl chr13:31,179,291...31,180,747
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VCAM1
vascular cell adhesion molecule 1
severity
ISO
RGD
PMID:18693542
RGD:7241211
NCBI chr 4:117,496,914...117,511,211
Ensembl chr 4:117,496,920...117,511,222
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VIM
vimentin
ISO
RGD
PMID:3780056
RGD:6480476
NCBI chr10:43,516,441...43,526,172
Ensembl chr10:43,517,307...43,526,170
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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 chr13:39,958,384...39,976,114
Ensembl chr13:39,958,387...39,975,946
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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:9,573,178...9,576,987
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