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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 chr12:1,574,251...1,577,410
Ensembl chr12:1,574,251...1,577,129 		JBrowse link
G APOC3 apolipoprotein C3 ISO protein:increased expression:serum RGD PMID:17957542 RGD:7207211 NCBI chr 5:16,744,423...16,746,992
Ensembl chr 5:16,744,423...16,746,992 		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 chr20:53,566,226...53,598,365
Ensembl chr20:53,566,261...53,598,761 		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 chr 9:39,008,187...39,009,932 JBrowse link
G CCR1 chemokine (C-C motif) receptor 1 disease_progression ISO RGD PMID:15153561 RGD:5688164 NCBI chr20:42,421,356...42,427,177
Ensembl chr20:42,421,356...42,426,958 		JBrowse link
G CD40 CD40 molecule treatment ISO RGD PMID:18566369 PMID:19265127 PMID:23799000 RGD:7248418 RGD:7248425 RGD:7248429 NCBI chr24:33,352,992...33,383,488
Ensembl chr24:33,372,930...33,383,301 		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:107,001,421...107,023,007
Ensembl chr  X:107,010,890...107,023,006 		JBrowse link
G CFB complement factor B ISO RGD PMID:3183062 PMID:10623824 PMID:21893562 RGD:7242736 RGD:7242755 RGD:7242763 NCBI chr12:1,400,143...1,406,267 JBrowse link
G CFH complement factor H ISO RGD PMID:22171659 RGD:5684551 NCBI chr38:2,878,677...2,956,226 JBrowse link
G CLU clusterin ISO mRNA:increased expression: epithelial cell of renal tubule RGD PMID:9546356 RGD:8890679 NCBI chr25:29,982,811...29,999,565
Ensembl chr25:29,982,811...29,999,563 		JBrowse link
G COL1A1 collagen type I alpha 1 chain ISO associated with Graft vs Host Disease
mRNA, protein:increased expression:kidney cortex		 RGD PMID:7700025 PMID:7723234 PMID:21354048 RGD:5688301 RGD:5688332 RGD:5688333 NCBI chr 9:26,183,852...26,199,927
Ensembl chr 9:26,183,852...26,199,927 		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 chr38:22,396,787...22,398,180
Ensembl chr38:22,396,263...22,399,166 		JBrowse link
G CSF1 colony stimulating factor 1 ISO RGD PMID:17659436 PMID:21885670 RGD:7257567 RGD:7257589 NCBI chr 6:42,028,454...42,047,028
Ensembl chr 6:42,034,149...42,049,371 		JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 ISO RGD PMID:15146424 RGD:7204726 NCBI chr37:12,647,712...12,653,874
Ensembl chr37:12,634,563...12,653,874 		JBrowse link
G DLA-DRB1 MHC class II DLA DRB1 beta chain susceptibility ISO DNA:polymorphisms:cds:HLA-DRB1*1501 (human) RGD PMID:12651073 RGD:40902999 NCBI chr12:2,151,409...2,164,564 JBrowse link
G EGF epidermal growth factor ISO RGD PMID:21354048 RGD:5688301 NCBI chr32:30,073,541...30,166,904
Ensembl chr32:30,073,950...30,166,295 		JBrowse link
G FAS Fas cell surface death receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:33632240 PMID:38555047 NCBI chr26:38,738,811...38,763,298
Ensembl chr26:38,737,611...38,763,321 		JBrowse link
G FCGR2B Fc fragment of IgG receptor IIb ISO RGD PMID:15681388 RGD:7240529 NCBI chr38:20,980,777...20,994,403 JBrowse link
G IFNG interferon gamma ISO protein:increased processing:kidney
protein:increased expression:serum,urine
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:22764573 PMID:29925830 PMID:31182691 RGD:14974252 RGD:6893369 NCBI chr10:10,406,866...10,411,698
Ensembl chr10:10,406,867...10,411,698 		JBrowse link
G IL17A interleukin 17A treatment ISO RGD PMID:25129462 RGD:9244623 NCBI chr12:19,854,129...19,862,521
Ensembl chr12:19,854,129...19,862,513 		JBrowse link
G IL18 interleukin 18 ISO RGD PMID:20980973 RGD:6893449 NCBI chr 5:20,972,742...20,995,327
Ensembl chr 5:20,972,871...20,995,348 		JBrowse link
G IL1B interleukin 1 beta ISO mRNA:increased expression:renal glomerulus (mouse) RGD PMID:20410215 PMID:21641991 RGD:7175315 RGD:7175344 NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458 		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 chr17:37,236,690...37,250,424
Ensembl chr17:37,212,751...37,249,329 		JBrowse link
G ITGAM integrin subunit alpha M ISO RGD PMID:21719445 RGD:5147916 NCBI chr 6:16,944,062...16,996,525
Ensembl chr 6:16,808,971...16,996,286 		JBrowse link
G JAK1 Janus kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31182691 NCBI chr 5:45,251,653...45,408,571
Ensembl chr 5:45,251,653...45,408,571 		JBrowse link
G KLKB1 kallikrein B1 susceptibility ISO DNA:SNPs:promoter: RGD PMID:19307730 RGD:7327150 NCBI chr16:44,492,735...44,517,854
Ensembl chr16:44,469,632...44,540,292 		JBrowse link
G LOC478984 low affinity immunoglobulin gamma Fc region receptor III susceptibility ISO DNA:SNP:cds:p.V158F (human) RGD PMID:17596285 RGD:5508454 NCBI chr38:21,054,870...21,060,948 JBrowse link
G LOC480600 chemokine (C-C motif) ligand 3 ISO RGD PMID:18187931 RGD:7241814 NCBI chr 9:37,708,561...37,710,209
Ensembl chr 9:37,676,966...37,710,209 		JBrowse link
G MBL1 mannose binding lectin 1 disease_progression ISO DNA:polymorphism:exon: RGD PMID:24850777 RGD:12910847 NCBI chr 4:29,419,886...29,424,377 JBrowse link
G MIR125A microRNA mir-125a ISO RNA:decreased expression:kidney RGD PMID:30972208 RGD:26884458 NCBI chr 1:105,400,273...105,400,332
Ensembl chr 1:105,400,270...105,400,337 		JBrowse link
G MMP2 matrix metallopeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22479529 NCBI chr 2:60,471,092...60,492,991
Ensembl chr 2:60,471,257...60,494,113 		JBrowse link
G MMP9 matrix metallopeptidase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22479529 NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293 		JBrowse link
G MPO myeloperoxidase susceptibility ISO DNA:polymorphism: :−463G > A (human) RGD PMID:17896805 RGD:7174701 NCBI chr 9:32,927,483...32,938,007
Ensembl chr 9:32,927,483...32,937,820 		JBrowse link
G MTOR mechanistic target of rapamycin kinase ISO RGD PMID:17283580 RGD:7245502 NCBI chr 2:84,818,893...84,939,283
Ensembl chr 2:84,787,708...84,939,114 		JBrowse link
G MUC20 mucin 20, cell surface associated ISO RGD PMID:14565953 RGD:7364790 NCBI chr33:29,044,104...29,055,583
Ensembl chr33:29,045,880...29,055,479 		JBrowse link
G NR3C1 nuclear receptor subfamily 3 group C member 1 ISO RGD PMID:17880936 PMID:21509671 RGD:7174713 RGD:7174734 NCBI chr 2:38,124,568...38,242,510
Ensembl chr 2:38,123,190...38,240,755 		JBrowse link
G OTUB1 OTU deubiquitinase, ubiquitin aldehyde binding 1 ISO protein:increased expression:kidney RGD PMID:22279542 RGD:7175260 NCBI chr 3:40,225,531...40,226,507
Ensembl chr 3:40,225,474...40,226,612
Ensembl chr18:40,225,474...40,226,612 		JBrowse link
G PDCD1 programmed cell death 1 onset ISO DNA:polymorphism: :
DNA:polymorphism:intron:6867 C>T (human)		 RGD PMID:15352422 PMID:15934088 PMID:21041733 RGD:7248675 RGD:7248676 RGD:7248678 NCBI chr25:51,606,559...51,618,903
Ensembl chr25:51,608,173...51,618,723 		JBrowse link
G SELL selectin L ISO RGD PMID:20512127 RGD:7175284 NCBI chr 7:28,906,752...28,927,959
Ensembl chr 7:28,906,809...29,094,008 		JBrowse link
G SERPING1 serpin family G member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:4014294 NCBI chr18:38,570,354...38,580,751
Ensembl chr18:38,570,607...38,581,665 		JBrowse link
G SNRPE small nuclear ribonucleoprotein polypeptide E treatment ISO mouse model RGD PMID:15494537 RGD:10760401 NCBI chr38:515,808...521,536
Ensembl chr38:515,860...521,535 		JBrowse link
G STAT1 signal transducer and activator of transcription 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31182691 NCBI chr37:1,513,438...1,549,837
Ensembl chr37:1,507,219...1,550,178 		JBrowse link
G STAT4 signal transducer and activator of transcription 4 ISO RGD PMID:20980973 RGD:6893449 NCBI chr37:1,566,563...1,685,378
Ensembl chr37:1,566,585...1,829,894 		JBrowse link
G STAT6 signal transducer and activator of transcription 6 disease_progression ISO RGD PMID:12874250 RGD:7244140 NCBI chr10:1,232,515...1,247,011
Ensembl chr10:1,233,691...1,247,075 		JBrowse link
G TLR7 toll like receptor 7 ISO RGD PMID:19944565 RGD:7246905 NCBI chr  X:9,331,243...9,360,461
Ensembl chr  X:9,314,815...9,359,603 		JBrowse link
G TLR9 toll like receptor 9 treatment
no_association
severity		 ISO protein:increased expression:renal glomerulus (human)
associated with Graft vs Host Disease
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)
DNA:snps:intron, exon:g.+1174G>A, g.+1635C>T (rs352139, rs352140) (human, Chinese)		 RGD PMID:17469139 PMID:19578108 PMID:20497632 PMID:21127878 PMID:22787315 More... RGD:7245987 RGD:7245989 RGD:7246884 RGD:7246896 RGD:7246897 RGD:7246911 NCBI chr20:37,529,322...37,547,117
Ensembl chr20:37,542,340...37,547,114
Ensembl chr20:37,542,340...37,547,114 		JBrowse link
G TNF tumor necrosis factor ISO protein:increased expression:glomerular mesangial cell RGD PMID:7750940 RGD:7394786 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425 		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 chr13:18,155,765...18,183,263
Ensembl chr13:18,156,367...18,183,444 		JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A severity ISO RGD PMID:10906156 PMID:19201910 RGD:7245569 RGD:7245572 NCBI chr27:38,641,837...38,654,693
Ensembl chr27:38,638,753...38,700,282 		JBrowse link
G TNFRSF1B TNF receptor superfamily member 1B treatment ISO RGD PMID:22674120 PMID:22846145 RGD:7245541 RGD:7245544 NCBI chr 2:84,140,179...84,151,219
Ensembl chr 2:84,141,911...84,157,191 		JBrowse link
G VCAM1 vascular cell adhesion molecule 1 severity ISO protein:increased expression:urine RGD PMID:22788914 RGD:7241032 NCBI chr 6:49,341,669...49,359,841
Ensembl chr 6:49,342,151...49,359,933 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15755
    disease of anatomical entity 15375
      Immune & Inflammatory Diseases 5195
        Inflammation 2508
          nephritis 406
            lupus nephritis 51
Path 2
Term Annotations click to browse term
  disease 15755
    disease of anatomical entity 15375
      Immune & Inflammatory Diseases 5195
        immune system disease 4640
          primary immunodeficiency disease 4072
            autoimmune disease 2052
              autoimmune disease of musculoskeletal system 902
                lupus erythematosus 205
                  systemic lupus erythematosus 199
                    lupus nephritis 51
paths to the root