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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_004624754:24,138,086...24,140,900 JBrowse link
G Apoc3 apolipoprotein C3 ISO protein:increased expression:serum RGD PMID:17957542 RGD:7207211 NCBI chrNW_004624784:12,244,565...12,246,790
Ensembl chrNW_004624784:12,244,646...12,246,790 		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_004624828:3,773,816...3,798,077
Ensembl chrNW_004624828:3,770,221...3,797,946 		JBrowse link
G Cd40 CD40 molecule treatment ISO RGD PMID:18566369 PMID:19265127 PMID:23799000 RGD:7248418 RGD:7248425 RGD:7248429 NCBI chrNW_004624790:8,475,640...8,485,927
Ensembl chrNW_004624790:8,476,158...8,485,856 		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_004624808:10,472,028...10,484,407
Ensembl chrNW_004624808:10,472,572...10,484,338 		JBrowse link
G Cfb complement factor B ISO RGD PMID:3183062 PMID:10623824 PMID:21893562 RGD:7242736 RGD:7242755 RGD:7242763 NCBI chrNW_004624754:24,310,344...24,316,482
Ensembl chrNW_004624754:24,310,247...24,317,366 		JBrowse link
G Cfh complement factor H ISO RGD PMID:22171659 RGD:5684551 NCBI chrNW_004624798:3,332,549...3,414,435 JBrowse link
G Clu clusterin ISO mRNA:increased expression: epithelial cell of renal tubule RGD PMID:9546356 RGD:8890679 NCBI chrNW_004624758:22,431,331...22,444,185
Ensembl chrNW_004624758:22,426,918...22,444,357 		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_004624795:6,167,504...6,183,208
Ensembl chrNW_004624795:6,168,797...6,183,071 		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 chrNW_004624794:1,531,555...1,533,804
Ensembl chrNW_004624794:1,531,571...1,533,804 		JBrowse link
G Csf1 colony stimulating factor 1 ISO RGD PMID:17659436 PMID:21885670 RGD:7257567 RGD:7257589 NCBI chrNW_004624772:5,663,374...5,705,965
Ensembl chrNW_004624772:5,663,070...5,707,753 		JBrowse link
G Ctla4 cytotoxic T-lymphocyte associated protein 4 ISO RGD PMID:15146424 RGD:7204726 NCBI chrNW_004624765:12,449,205...12,454,324
Ensembl chrNW_004624765:12,449,205...12,454,324 		JBrowse link
G Fas Fas cell surface death receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:33632240 PMID:38555047 NCBI chrNW_004624791:15,290,022...15,315,848
Ensembl chrNW_004624791:15,289,348...15,315,848 		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 chrNW_004624826:23,930...34,735 JBrowse link
G Fcgr2b Fc fragment of IgG receptor IIb ISO RGD PMID:15681388 RGD:7240529 NCBI chrNW_004624826:97,605...112,101 JBrowse link
G Fcgr3a Fc fragment of IgG receptor IIIa susceptibility ISO DNA:SNP:cds:p.V158F (human) RGD PMID:17596285 RGD:5508454 NCBI chrNW_004624826:51,387...59,117 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 chrNW_004624802:163,261...166,534
Ensembl chrNW_004624802:163,261...166,534 		JBrowse link
G Il17a interleukin 17A treatment ISO RGD PMID:25129462 RGD:9244623 NCBI chrNW_004624855:3,911,349...3,914,214
Ensembl chrNW_004624855:3,911,349...3,913,136 		JBrowse link
G Il18 interleukin 18 ISO RGD PMID:20980973 RGD:6893449 NCBI chrNW_004624784:7,294,286...7,312,959
Ensembl chrNW_004624784:7,294,183...7,304,687 		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_004624749:12,852,128...12,858,478
Ensembl chrNW_004624749:12,852,021...12,858,760 		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_004624749:13,210,365...13,224,471
Ensembl chrNW_004624749:13,210,476...13,225,890 		JBrowse link
G Itgam integrin subunit alpha M ISO RGD PMID:21719445 RGD:5147916 NCBI chrNW_004624782:14,316,505...14,367,841
Ensembl chrNW_004624782:14,318,499...14,367,922 		JBrowse link
G Jak1 Janus kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31182691 NCBI chrNW_004624742:29,631,391...29,723,981
Ensembl chrNW_004624742:29,689,965...29,723,981 		JBrowse link
G Klkb1 kallikrein B1 susceptibility ISO DNA:SNPs:promoter: RGD PMID:19307730 RGD:7327150 NCBI chrNW_004624769:17,066,055...17,088,587
Ensembl chrNW_004624769:17,067,342...17,087,408 		JBrowse link
G LOC101724812 C-C chemokine receptor type 1 disease_progression ISO RGD PMID:15153561 RGD:5688164 NCBI chrNW_004624730:74,822,848...74,828,614
Ensembl chrNW_004624730:74,826,659...74,827,726 		JBrowse link
G Mbl2 mannose binding lectin 2 disease_progression ISO DNA:polymorphism:exon: RGD PMID:24850777 RGD:12910847 NCBI chrNW_004624791:10,881,319...10,886,294
Ensembl chrNW_004624791:10,881,268...10,886,297 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22479529 NCBI chrNW_004624757:1,450,680...1,479,160
Ensembl chrNW_004624757:1,448,698...1,479,255 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22479529 NCBI chrNW_004624790:8,584,399...8,591,763
Ensembl chrNW_004624790:8,583,457...8,591,713 		JBrowse link
G Mpo myeloperoxidase susceptibility ISO DNA:polymorphism: :−463G > A (human) RGD PMID:17896805 RGD:7174701 NCBI chrNW_004624871:121,026...131,433
Ensembl chrNW_004624871:121,026...131,323 		JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO RGD PMID:17283580 RGD:7245502 NCBI chrNW_004624818:1,570,155...1,698,264
Ensembl chrNW_004624818:1,570,276...1,698,259 		JBrowse link
G Muc20 mucin 20, cell surface associated ISO RGD PMID:14565953 RGD:7364790 NCBI chrNW_004624730:61,124,764...61,149,993 JBrowse link
G Nr3c1 nuclear receptor subfamily 3 group C member 1 ISO RGD PMID:17880936 PMID:21509671 RGD:7174713 RGD:7174734 NCBI chrNW_004624774:2,496,276...2,603,894
Ensembl chrNW_004624774:2,495,304...2,602,632 		JBrowse link
G Otub1 OTU deubiquitinase, ubiquitin aldehyde binding 1 ISO protein:increased expression:kidney RGD PMID:22279542 RGD:7175260 NCBI chrNW_004624767:22,278,572...22,289,576
Ensembl chrNW_004624767:22,278,572...22,289,640 		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 chrNW_004624847:5,732,922...5,741,908
Ensembl chrNW_004624847:5,732,767...5,742,269 		JBrowse link
G Sell selectin L ISO RGD PMID:20512127 RGD:7175284 NCBI chrNW_004624826:7,590,576...7,612,370
Ensembl chrNW_004624826:7,587,970...7,610,163 		JBrowse link
G Serping1 serpin family G member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:4014294 NCBI chrNW_004624864:3,091,397...3,103,084
Ensembl chrNW_004624864:3,091,083...3,103,090 		JBrowse link
G Snrpe small nuclear ribonucleoprotein polypeptide E treatment ISO mouse model RGD PMID:15494537 RGD:10760401 NCBI chrNW_004624807:7,079,944...7,086,973
Ensembl chrNW_004624807:7,079,090...7,087,215 		JBrowse link
G Stat1 signal transducer and activator of transcription 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31182691 NCBI chrNW_004624854:5,067,578...5,106,052
Ensembl chrNW_004624854:5,067,535...5,102,106 		JBrowse link
G Stat4 signal transducer and activator of transcription 4 ISO RGD PMID:20980973 RGD:6893449 NCBI chrNW_004624854:4,975,724...5,056,940
Ensembl chrNW_004624854:4,976,507...5,057,391 		JBrowse link
G Stat6 signal transducer and activator of transcription 6 disease_progression ISO RGD PMID:12874250 RGD:7244140 NCBI chrNW_004624802:10,809,234...10,847,762
Ensembl chrNW_004624802:10,809,252...10,846,693 		JBrowse link
G Tlr7 toll like receptor 7 ISO RGD PMID:19944565 RGD:7246905 NCBI chrNW_004624882:1,375,216...1,379,705 JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:glomerular mesangial cell RGD PMID:7750940 RGD:7394786 NCBI chrNW_004624754:24,623,059...24,625,647
Ensembl chrNW_004624754:24,623,425...24,625,531 		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_004624763:17,139,109...17,166,398
Ensembl chrNW_004624763:17,138,847...17,166,453 		JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A severity ISO RGD PMID:10906156 PMID:19201910 RGD:7245569 RGD:7245572 NCBI chrNW_004624860:3,111,244...3,123,041
Ensembl chrNW_004624860:3,111,630...3,122,711 		JBrowse link
G Tnfrsf1b TNF receptor superfamily member 1B treatment ISO RGD PMID:22674120 PMID:22846145 RGD:7245541 RGD:7245544 NCBI chrNW_004624818:894,470...922,806
Ensembl chrNW_004624818:896,150...922,710 		JBrowse link
G Vcam1 vascular cell adhesion molecule 1 severity ISO protein:increased expression:urine RGD PMID:22788914 RGD:7241032 NCBI chrNW_004624857:3,606,573...3,625,991
Ensembl chrNW_004624857:3,606,431...3,627,063 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14226
    disease of anatomical entity 13929
      Immune & Inflammatory Diseases 4775
        Inflammation 2293
          nephritis 372
            lupus nephritis 46
Path 2
Term Annotations click to browse term
  disease 14226
    disease of anatomical entity 13929
      Immune & Inflammatory Diseases 4775
        immune system disease 4277
          primary immunodeficiency disease 3751
            autoimmune disease 1901
              autoimmune disease of musculoskeletal system 844
                lupus erythematosus 192
                  systemic lupus erythematosus 187
                    lupus nephritis 46
paths to the root