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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 chr17:39,847,343...39,851,288
Ensembl chr17:39,847,759...39,851,127
JBrowse link
G 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
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 chr 6:6,250,422...6,289,264 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 chr16:27,763,354...27,765,437
Ensembl chr16:27,763,555...27,765,416
JBrowse link
G CCR1 C-C motif chemokine receptor 1 disease_progression ISO RGD PMID:15153561 RGD:5688164 NCBI chr22:7,634,205...7,641,380 JBrowse link
G 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
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:111,655,301...111,667,602
Ensembl chr  X:111,655,397...111,666,639
JBrowse link
G 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 JBrowse link
G CFH complement factor H ISO RGD PMID:22171659 RGD:5684551 NCBI chr25:32,557,697...32,744,763 JBrowse link
G 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
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 chr16:43,134,648...43,152,313
Ensembl chr16:43,134,779...43,150,930
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 chr20:4,232,262...4,235,826
Ensembl chr20:4,232,913...4,235,377
JBrowse link
G CSF1 colony stimulating factor 1 ISO RGD PMID:17659436 PMID:21885670 RGD:7257567 RGD:7257589 NCBI chr20:23,615,107...23,635,399 JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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 More... NCBI chr20:2,480,710...2,512,429 JBrowse link
G 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 JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
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 chr14:16,136,667...16,152,451
Ensembl chr14:16,146,333...16,151,326
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G LOC103223672 low affinity immunoglobulin gamma Fc region receptor II-b ISO RGD PMID:15681388 RGD:7240529 NCBI chr20:2,398,425...2,413,328 JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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 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 chr10:127,877,383...127,886,234
Ensembl chr10:127,878,554...127,886,088
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G SNRPE small nuclear ribonucleoprotein polypeptide E treatment ISO mouse model RGD PMID:15494537 RGD:10760401 NCBI chr25:25,474,620...25,483,427 JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G TLR7 toll like receptor 7 ISO RGD PMID:19944565 RGD:7246905 NCBI chr  X:11,348,520...11,372,132 JBrowse link
G TNF tumor necrosis factor ISO protein:increased expression:glomerular mesangial cell RGD PMID:7750940 RGD:7394786
G TNFRSF11B TNF receptor superfamily member 11b ISO associated with Lupus Erythematosus, Systemic;protein:increased expression:urine RGD PMID:21691937 RGD:7205483 NCBI chr 8:113,520,711...113,549,370
Ensembl chr 8:113,520,596...113,548,936
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15412
    disease of anatomical entity 15076
      Immune & Inflammatory Diseases 5126
        Inflammation 2450
          nephritis 398
            lupus nephritis 49
Path 2
Term Annotations click to browse term
  disease 15412
    disease of anatomical entity 15076
      Immune & Inflammatory Diseases 5126
        immune system disease 4600
          primary immunodeficiency disease 4041
            autoimmune disease 2038
              autoimmune disease of musculoskeletal system 891
                lupus erythematosus 203
                  systemic lupus erythematosus 197
                    lupus nephritis 49
paths to the root