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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 chrNW_004955437:645,482...648,607
Ensembl chrNW_004955437:645,897...648,479
JBrowse link
G Apoc3 apolipoprotein C3 ISO protein:increased expression:serum RGD PMID:17957542 RGD:7207211 NCBI chrNW_004955412:18,165,667...18,168,015
Ensembl chrNW_004955412:18,165,667...18,168,015
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 chrNW_004955495:2,796,601...2,824,233
Ensembl chrNW_004955495:2,796,663...2,824,697
JBrowse link
G Cd40 CD40 molecule treatment ISO RGD PMID:18566369 PMID:19265127 PMID:23799000 RGD:7248418 RGD:7248425 RGD:7248429 NCBI chrNW_004955445:11,191,817...11,202,156
Ensembl chrNW_004955445:11,190,603...11,202,093
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 chrNW_004955489:8,465,571...8,477,714
Ensembl chrNW_004955489:8,465,164...8,477,746
JBrowse link
G Cfb complement factor B ISO RGD PMID:3183062 PMID:10623824 PMID:21893562 RGD:7242736 RGD:7242755 RGD:7242763 NCBI chrNW_004955437:461,235...466,908
Ensembl chrNW_004955437:461,235...470,464
JBrowse link
G Clu clusterin ISO mRNA:increased expression: epithelial cell of renal tubule RGD PMID:9546356 RGD:8890679 NCBI chrNW_004955403:50,160,598...50,175,876
Ensembl chrNW_004955403:50,160,598...50,175,876
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 chrNW_004955451:11,468,156...11,484,410
Ensembl chrNW_004955451:11,468,290...11,483,073
JBrowse link
G Csf1 colony stimulating factor 1 ISO RGD PMID:17659436 PMID:21885670 RGD:7257567 RGD:7257589 NCBI chrNW_004955435:13,404,236...13,423,059
Ensembl chrNW_004955435:13,404,508...13,424,247
JBrowse link
G Ctla4 cytotoxic T-lymphocyte associated protein 4 ISO RGD PMID:15146424 RGD:7204726 NCBI chrNW_004955457:11,028,707...11,034,898
Ensembl chrNW_004955457:11,028,698...11,073,460
JBrowse link
G Egf epidermal growth factor ISO RGD PMID:21354048 RGD:5688301 NCBI chrNW_004955496:325,954...401,430
Ensembl chrNW_004955496:328,075...401,569
JBrowse link
G Fas Fas cell surface death receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:33632240 PMID:38555047 NCBI chrNW_004955425:3,961,671...3,987,513
Ensembl chrNW_004955425:3,961,013...3,987,455
JBrowse link
G Fcgr2b Fc fragment of IgG receptor IIb ISO RGD PMID:15681388 RGD:7240529 NCBI chrNW_004955462:14,639,396...14,653,801 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 chrNW_004955458:14,643,333...14,648,020
Ensembl chrNW_004955458:14,643,313...14,648,045
JBrowse link
G Il17a interleukin 17A treatment ISO RGD PMID:25129462 RGD:9244623 NCBI chrNW_004955411:5,896,435...5,899,911
Ensembl chrNW_004955411:5,896,702...5,900,962
JBrowse link
G Il18 interleukin 18 ISO RGD PMID:20980973 RGD:6893449 NCBI chrNW_004955412:13,807,361...13,826,007
Ensembl chrNW_004955412:13,806,553...13,825,634
JBrowse link
G Il1b interleukin 1 beta ISO mRNA:increased expression:renal glomerulus (mouse) RGD PMID:20410215 PMID:21641991 RGD:7175315 RGD:7175344 NCBI chrNW_004955470:1,486,936...1,491,888
Ensembl chrNW_004955470:1,486,967...1,491,947
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 chrNW_004955470:1,145,022...1,159,413
Ensembl chrNW_004955470:1,144,810...1,159,471
JBrowse link
G Itgam integrin subunit alpha M ISO RGD PMID:21719445 RGD:5147916 NCBI chrNW_004955493:8,116,886...8,160,806
Ensembl chrNW_004955493:8,116,834...8,260,759
JBrowse link
G Jak1 Janus kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31182691 NCBI chrNW_004955423:25,501,989...25,581,826
Ensembl chrNW_004955423:25,524,075...25,580,604
JBrowse link
G Klkb1 kallikrein B1 susceptibility ISO DNA:SNPs:promoter: RGD PMID:19307730 RGD:7327150 NCBI chrNW_004955403:22,835,544...22,856,355
Ensembl chrNW_004955403:22,833,982...22,856,389
JBrowse link
G Mbl2 mannose binding lectin 2 disease_progression ISO DNA:polymorphism:exon: RGD PMID:24850777 RGD:12910847 NCBI chrNW_004955425:7,704,371...7,708,951
Ensembl chrNW_004955425:7,702,137...7,709,006
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22479529 NCBI chrNW_004955433:13,024,844...13,050,041
Ensembl chrNW_004955433:13,024,418...13,052,775
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22479529 NCBI chrNW_004955445:11,295,500...11,303,322
Ensembl chrNW_004955445:11,295,448...11,303,288
JBrowse link
G Mpo myeloperoxidase susceptibility ISO DNA:polymorphism: :−463G > A (human) RGD PMID:17896805 RGD:7174701 NCBI chrNW_004955451:4,743,744...4,753,358
Ensembl chrNW_004955451:4,743,744...4,753,358
JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO RGD PMID:17283580 RGD:7245502 NCBI chrNW_004955486:2,487,642...2,599,694
Ensembl chrNW_004955486:2,487,642...2,599,694
JBrowse link
G Muc20 mucin 20, cell surface associated ISO RGD PMID:14565953 RGD:7364790 NCBI chrNW_004955420:12,212,666...12,234,213 JBrowse link
G Nr3c1 nuclear receptor subfamily 3 group C member 1 ISO RGD PMID:17880936 PMID:21509671 RGD:7174713 RGD:7174734 NCBI chrNW_004955415:10,494,704...10,585,778
Ensembl chrNW_004955415:10,494,640...10,586,221
JBrowse link
G Otub1 OTU deubiquitinase, ubiquitin aldehyde binding 1 ISO protein:increased expression:kidney RGD PMID:22279542 RGD:7175260 NCBI chrNW_004955422:21,047,184...21,055,596
Ensembl chrNW_004955422:21,047,184...21,055,616
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 chrNW_004955542:49,290...57,747
Ensembl chrNW_004955542:49,259...58,823
JBrowse link
G Sell selectin L ISO RGD PMID:20512127 RGD:7175284 NCBI chrNW_004955462:7,591,997...7,611,408
Ensembl chrNW_004955462:7,591,366...7,612,846
JBrowse link
G Serping1 serpin family G member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:4014294 NCBI chrNW_004955511:2,545,337...2,557,850
Ensembl chrNW_004955511:2,545,285...2,557,982
JBrowse link
G Snrpe small nuclear ribonucleoprotein polypeptide E treatment ISO mouse model RGD PMID:15494537 RGD:10760401 NCBI chrNW_004955406:39,725,841...39,732,527
Ensembl chrNW_004955406:39,725,446...39,734,586
JBrowse link
G Stat1 signal transducer and activator of transcription 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31182691 NCBI chrNW_004955403:8,156,660...8,192,018
Ensembl chrNW_004955403:8,156,660...8,194,762
JBrowse link
G Stat4 signal transducer and activator of transcription 4 ISO RGD PMID:20980973 RGD:6893449 NCBI chrNW_004955403:8,061,471...8,144,252
Ensembl chrNW_004955403:8,061,471...8,144,276
JBrowse link
G Stat6 signal transducer and activator of transcription 6 disease_progression ISO RGD PMID:12874250 RGD:7244140 NCBI chrNW_004955458:4,833,417...4,847,956
Ensembl chrNW_004955458:4,833,515...4,843,273
JBrowse link
G Tlr7 toll like receptor 7 ISO RGD PMID:19944565 RGD:7246905 NCBI chrNW_004955544:424,897...443,562
Ensembl chrNW_004955544:424,850...443,564
JBrowse link
G Tlr9 toll like receptor 9 treatment
no_association
severity
ISO 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)
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)
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 chrNW_004955532:3,828,645...3,832,699
Ensembl chrNW_004955532:3,828,775...3,832,582
JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:glomerular mesangial cell RGD PMID:7750940 RGD:7394786 NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700
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 chrNW_004955417:24,804,708...24,831,338
Ensembl chrNW_004955417:24,804,664...24,831,894
JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A severity ISO RGD PMID:10906156 PMID:19201910 RGD:7245569 RGD:7245572 NCBI chrNW_004955413:3,982,670...3,996,320
Ensembl chrNW_004955413:3,981,400...3,996,021
JBrowse link
G Tnfrsf1b TNF receptor superfamily member 1B treatment ISO RGD PMID:22674120 PMID:22846145 RGD:7245541 RGD:7245544 NCBI chrNW_004955486:1,790,531...1,817,986
Ensembl chrNW_004955486:1,792,115...1,818,362
JBrowse link
G Vcam1 vascular cell adhesion molecule 1 severity ISO protein:increased expression:urine RGD PMID:22788914 RGD:7241032 NCBI chrNW_004955435:5,390,745...5,410,025
Ensembl chrNW_004955435:5,390,751...5,411,691
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14337
    disease of anatomical entity 14030
      Immune & Inflammatory Diseases 4820
        Inflammation 2305
          nephritis 369
            lupus nephritis 43
Path 2
Term Annotations click to browse term
  disease 14337
    disease of anatomical entity 14030
      Immune & Inflammatory Diseases 4820
        immune system disease 4322
          primary immunodeficiency disease 3795
            autoimmune disease 1911
              autoimmune disease of musculoskeletal system 839
                lupus erythematosus 189
                  systemic lupus erythematosus 184
                    lupus nephritis 43
paths to the root