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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:lupus nephritis
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Accession:DOID:0080162 term browser 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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lupus nephritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGER advanced glycosylation end-product specific receptor 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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 JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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 JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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 JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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 More... NCBI chr 1:136,892,311...136,906,450 JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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 JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G STAT6 signal transducer and activator of transcription 6 disease_progression ISO RGD PMID:12874250 RGD:7244140 Ensembl chr12:32,068,679...32,085,099 JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15834
    disease of anatomical entity 15490
      Immune & Inflammatory Diseases 5237
        Inflammation 2497
          nephritis 403
            lupus nephritis 47
Path 2
Term Annotations click to browse term
  disease 15834
    disease of anatomical entity 15490
      Immune & Inflammatory Diseases 5237
        immune system disease 4703
          primary immunodeficiency disease 4141
            autoimmune disease 2083
              autoimmune disease of musculoskeletal system 918
                lupus erythematosus 205
                  systemic lupus erythematosus 199
                    lupus nephritis 47
paths to the root