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 nephritis
Accession: DOID:0080162
browse the term
Definition: A glomerulonephritis that is characterized by inflammation of the kidneys resulting from systemic lupus erythematosus. (DO)
Synonyms: exact_synonym: Lupus Glomerulonephritides; Lupus Glomerulonephritis; Lupus Nephritides; SLE nephritis; Systemic Lupus Erythematosus with Nephritis
related_synonym: SLEN1; SLEN2; SLEN3; Systemic Lupus Erythematosus with Nephritis, Susceptibility To, 1; Systemic Lupus Erythematosus with Nephritis, Susceptibility To, 2; Systemic Lupus Erythematosus with Nephritis, Susceptibility To, 3; lupus nephritis, susceptibility to
primary_id: MESH:D008181
alt_id: DOID:9004124
xref: EFO:0005761 ; GARD:10747 ; MIM:607965 ; MIM:607966 ; MIM:607967
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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 6:31,828,363...31,831,981
Ensembl chr 6:32,708,251...32,711,641
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APOC3
apolipoprotein C3
ISO
protein:increased expression:serum
RGD
PMID:17957542
RGD:7207211
NCBI chr11:111,667,816...111,670,861
Ensembl chr11:115,600,416...115,603,460
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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 chr19:5,708,211...5,753,178
Ensembl chr19:6,629,287...6,674,699
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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 chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384
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CCR1
C-C motif chemokine receptor 1
disease_progression
ISO
RGD
PMID:15153561
RGD:5688164
NCBI chr 3:46,107,526...46,114,229
Ensembl chr 3:47,214,688...47,215,755
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CD40
CD40 molecule
treatment
ISO
RGD
PMID:18566369 PMID:19265127 PMID:23799000
RGD:7248418 RGD:7248425 RGD:7248429
NCBI chr20:42,455,711...42,467,139
Ensembl chr20:43,541,619...43,552,994
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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:125,776,138...125,788,820
Ensembl chr X:136,042,849...136,058,202
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CFB
complement factor B
ISO
RGD
PMID:3183062 PMID:10623824 PMID:21893562
RGD:7242736 RGD:7242755 RGD:7242763
NCBI chr 6:31,606,716...31,612,782
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CFH
complement factor H
ISO
RGD
PMID:22171659
RGD:5684551
NCBI chr 1:172,155,882...172,251,632
Ensembl chr 1:176,455,247...176,525,521
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CLU
clusterin
ISO
mRNA:increased expression: epithelial cell of renal tubule
RGD
PMID:9546356
RGD:8890679
NCBI chr 8:26,867,973...26,884,838
Ensembl chr 8:24,070,053...24,083,523
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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 chr17:44,274,349...44,291,764
Ensembl chr17:49,150,677...49,166,677
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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 chr 1:135,062,102...135,064,402
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CSF1
colony stimulating factor 1
ISO
RGD
PMID:17659436 PMID:21885670
RGD:7257567 RGD:7257589
NCBI chr 1:112,555,755...112,575,894
Ensembl chr 1:127,764,916...127,781,943
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CTLA4
cytotoxic T-lymphocyte associated protein 4
ISO
RGD
PMID:15146424
RGD:7204726
NCBI chr2B:91,054,917...91,106,234
Ensembl chr2B:209,239,417...209,244,498
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EGF
epidermal growth factor
ISO
RGD
PMID:21354048
RGD:5688301
NCBI chr 4:102,410,724...102,509,691
Ensembl chr 4:112,977,565...113,076,460
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FAS
Fas cell surface death receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:33632240 PMID:38555047
NCBI chr10:85,707,457...85,741,539
Ensembl chr10:89,217,949...89,243,612
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FCGR2B
Fc gamma receptor IIb
ISO
RGD
PMID:15681388
RGD:7240529
NCBI chr 1:137,074,342...137,090,962
Ensembl chr 1:140,882,043...140,890,637
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FCGR3A
Fc gamma receptor IIIa
susceptibility
ISO
DNA:SNP:cds:p.V158F (human)
RGD
PMID:17596285
RGD:5508454
NCBI chr 1:137,027,943...137,036,738
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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 chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829
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IL17A
interleukin 17A
treatment
ISO
RGD
PMID:25129462
RGD:9244623
NCBI chr 6:51,736,269...51,740,538
Ensembl chr 6:53,004,820...53,009,074
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IL18
interleukin 18
ISO
RGD
PMID:20980973
RGD:6893449
NCBI chr11:107,024,376...107,045,194
Ensembl chr11:110,867,586...110,888,371
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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 chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424
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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 chr2A:88,991,646...89,008,013
Ensembl chr2A:114,061,182...114,078,839
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ITGAM
integrin subunit alpha M
ISO
RGD
PMID:21719445
RGD:5147916
NCBI chr16:23,634,476...23,707,147
Ensembl chr16:31,630,146...31,702,406
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JAK1
Janus kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31182691
NCBI chr 1:64,083,562...64,315,909
Ensembl chr 1:65,973,904...66,024,991
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KLKB1
kallikrein B1
susceptibility
ISO
DNA:SNPs:promoter:
RGD
PMID:19307730
RGD:7327150
NCBI chr 4:178,398,359...178,429,448
Ensembl chr 4:190,604,901...190,636,300
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LOC100991644
low affinity immunoglobulin gamma Fc region receptor II-a
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 chr 1:136,892,311...136,906,450
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MBL2
mannose binding lectin 2
disease_progression
ISO
DNA:polymorphism:exon:
RGD
PMID:24850777
RGD:12910847
NCBI chr10:49,401,364...49,409,328
Ensembl chr10:51,527,758...51,543,432
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MMP2
matrix metallopeptidase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22479529
NCBI chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279
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MMP9
matrix metallopeptidase 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22479529
NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129
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MPO
myeloperoxidase
susceptibility
ISO
DNA:polymorphism: :−463G > A (human)
RGD
PMID:17896805
RGD:7174701
NCBI chr17:52,333,882...52,357,838
Ensembl chr17:57,201,073...57,212,111
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MTOR
mechanistic target of rapamycin kinase
ISO
RGD
PMID:17283580
RGD:7245502
NCBI chr 1:9,871,700...10,028,704
Ensembl chr 1:11,093,765...11,249,841
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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 5:138,634,278...139,089,171
Ensembl chr 5:144,741,452...144,865,269
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OTUB1
OTU deubiquitinase, ubiquitin aldehyde binding 1
ISO
protein:increased expression:kidney
RGD
PMID:22279542
RGD:7175260
NCBI chr11:59,342,820...59,355,386
Ensembl chr11:62,690,542...62,706,542
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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 chr12:130,849,353...130,858,776
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SELL
selectin L
ISO
RGD
PMID:20512127
RGD:7175284
NCBI chr 1:145,173,700...145,194,927
Ensembl chr 1:148,895,373...148,916,393
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SERPING1
serpin family G member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:4014294
NCBI chr11:52,838,502...52,855,781
Ensembl chr11:56,309,686...56,326,639
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SNRPE
small nuclear ribonucleoprotein polypeptide E
treatment
ISO
mouse model
RGD
PMID:15494537
RGD:10760401
NCBI chr 1:179,466,263...179,474,779
Ensembl chr 1:183,755,392...183,764,937
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STAT1
signal transducer and activator of transcription 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31182691
NCBI chr2B:78,270,642...78,316,074
Ensembl chr2B:196,186,906...196,232,280
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STAT4
signal transducer and activator of transcription 4
ISO
RGD
PMID:20980973
RGD:6893449
NCBI chr2B:78,331,402...78,549,231
Ensembl chr2B:196,247,881...196,366,011
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STAT6
signal transducer and activator of transcription 6
disease_progression
ISO
RGD
PMID:12874250
RGD:7244140
Ensembl chr12:32,068,679...32,085,099
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TLR7
toll like receptor 7
ISO
RGD
PMID:19944565
RGD:7246905
NCBI chr X:5,479,247...5,504,810
Ensembl chr X:12,767,981...12,790,517
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TNF
tumor necrosis factor
ISO
protein:increased expression:glomerular mesangial cell
RGD
PMID:7750940
RGD:7394786
NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
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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 8:115,614,778...115,643,387
Ensembl chr 8:118,134,305...118,162,422
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TNFRSF1A
TNF receptor superfamily member 1A
severity
ISO
RGD
PMID:10906156 PMID:19201910
RGD:7245569 RGD:7245572
NCBI chr12:6,457,617...6,470,969
Ensembl chr12:6,374,257...6,387,613
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TNFRSF1B
TNF receptor superfamily member 1B
treatment
ISO
RGD
PMID:22674120 PMID:22846145
RGD:7245541 RGD:7245544
NCBI chr 1:10,915,743...10,957,765
Ensembl chr 1:12,130,663...12,172,646
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VCAM1
vascular cell adhesion molecule 1
severity
ISO
protein:increased expression:urine
RGD
PMID:22788914
RGD:7241032
NCBI chr 1:103,377,815...103,395,118
Ensembl chr 1:102,091,336...102,107,732
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