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
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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 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 protein:increased processing:kidney CTD Direct Evidence: marker/mechanism
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:intron:6867 C>T (human) DNA:polymorphism: :
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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