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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:Goodpasture syndrome
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Accession:DOID:9808 term browser browse the term
Definition:An autoimmune disease that is characterized by antibody attack of the basement membrane in lungs and kidneys, leading to bleeding from the lungs and kidney failure. (DO)
Synonyms:exact_synonym: Goodpasture's syndrome;   Goodpastures syndrome;   anti-GBM disease;   anti-glomerular basement membrane disease;   lung purpura with nephritis
 primary_id: OMIM:233450
 xref: GARD:2551;   ICD10CM:M31.0;   ICD9CM:446.21;   NCI:C34649;   NCI:C84566
For additional species annotation, visit the Alliance of Genome Resources.


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anti-basement membrane glomerulonephritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agt angiotensinogen IEP protein:increased expression:kidney, urine
mRNA, protein:increased expression:liver, plasma
RGD PMID:21282555 PMID:7550093 RGD:5129185, RGD:11039051 NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
JBrowse link
G Agtr1a angiotensin II receptor, type 1a IEP protein:increased expression:kidney RGD PMID:21282555 RGD:5129185 NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946
JBrowse link
G Bax BCL2 associated X, apoptosis regulator IEP mRNA, protein:increased expression:kidney RGD PMID:12234300 RGD:1579984 NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368
JBrowse link
G Bcl2 BCL2, apoptosis regulator IEP mRNA, protein:decreased expression:kidney RGD PMID:12234300 RGD:1579984 NCBI chr13:22,689,783...22,853,920 JBrowse link
G Ccl17 C-C motif chemokine ligand 17 IEP mRNA:increased expression:glomerulus RGD PMID:20071465 RGD:4145614 NCBI chr19:10,202,317...10,203,768
Ensembl chr19:10,202,128...10,203,819
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 treatment IEP
IDA
mRNA:increased expression:glomerulus RGD PMID:17898087 PMID:20071465 PMID:21894146 RGD:2307059, RGD:4145614, RGD:6218988 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
JBrowse link
G Ccl22 C-C motif chemokine ligand 22 IMP mRNA, protein:increased expression:glomerulus RGD PMID:12651599 RGD:2306306 NCBI chr19:10,257,602...10,264,373
Ensembl chr19:10,257,601...10,264,400
JBrowse link
G Ccl4 C-C motif chemokine ligand 4 IEP mRNA:increased expression:glomerulus RGD PMID:17898087 RGD:2307059 NCBI chr10:68,466,469...68,467,941
Ensembl chr10:68,452,052...68,468,231
JBrowse link
G Ccl5 C-C motif chemokine ligand 5 IEP mRNA:increased expression:glomerulus RGD PMID:17898087 RGD:2307059 NCBI chr10:68,322,826...68,327,365
Ensembl chr10:68,322,829...68,327,377
JBrowse link
G Cd274 CD274 molecule treatment ISO RGD PMID:21965585 RGD:7248671 NCBI chr 1:227,116,627...227,137,379
Ensembl chr 1:227,116,649...227,134,450
JBrowse link
G Cd40 CD40 molecule ISO RGD PMID:15210767 RGD:7248442 NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
JBrowse link
G Cd40lg CD40 ligand IMP RGD PMID:15458437 RGD:5508170 NCBI chr  X:135,127,119...135,138,302
Ensembl chr  X:135,126,969...135,138,306
JBrowse link
G Cd80 Cd80 molecule IMP RGD PMID:10712436 RGD:6902936 NCBI chr11:62,254,543...62,293,414
Ensembl chr11:62,254,624...62,292,030
JBrowse link
G Cfb complement factor B ISO RGD PMID:22492944 RGD:7242700 NCBI chr20:3,970,643...3,976,510 JBrowse link
G Clu clusterin IEP protein:increased expression:urine RGD PMID:23791361 RGD:9068422 NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315
JBrowse link
G Csf1 colony stimulating factor 1 treatment IDA RGD PMID:19242505 RGD:7257569 NCBI chr 2:195,377,215...195,396,608
Ensembl chr 2:195,377,215...195,411,704
JBrowse link
G Csf1r colony stimulating factor 1 receptor treatment IDA RGD PMID:19242505 RGD:7257569 NCBI chr18:54,546,673...54,590,418
Ensembl chr18:54,546,659...54,590,415
JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 treatment ISO RGD PMID:10712436 PMID:8206086 PMID:10712436 RGD:6902936, RGD:11352257, RGD:6902936 NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
JBrowse link
G Cx3cl1 C-X3-C motif chemokine ligand 1 IEP mRNA, protein:increased expression:glomerulus RGD PMID:19590241 RGD:4891946 NCBI chr19:10,227,337...10,237,826
Ensembl chr19:10,227,340...10,236,833
JBrowse link
G Cx3cr1 C-X3-C motif chemokine receptor 1 IEP mRNA, protein:increased expression:glomerulus RGD PMID:19590241 RGD:4891946 NCBI chr 8:119,785,726...119,799,431
Ensembl chr 8:119,782,595...119,800,014
JBrowse link
G Cxcl12 C-X-C motif chemokine ligand 12 IEP mRNA:increased expression:glomerulus RGD PMID:17557270 RGD:2306579 NCBI chr 4:150,388,326...150,401,173
Ensembl chr 4:150,388,325...150,401,168
JBrowse link
G Dusp1 dual specificity phosphatase 1 IEP mRNA:increased expression:glomerulus RGD PMID:8587253 RGD:633769 NCBI chr10:16,680,489...16,683,276 JBrowse link
G Fcgr3a Fc fragment of IgG receptor IIIa no_association ISO DNA:cnv: :
DNA:polymorphism:exon:(rs396991)(human)
RGD PMID:19946017 PMID:19640933 RGD:5508400, RGD:5508403 NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921
JBrowse link
G Gp6 glycoprotein VI ISO RGD PMID:20651232 RGD:7242710 NCBI chr 1:69,429,232...69,492,709
Ensembl chr 1:69,465,789...69,491,326
JBrowse link
G Il10 interleukin 10 treatment IDA RGD PMID:23826305 RGD:7365004 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
JBrowse link
G Il17a interleukin 17A treatment IDA RGD PMID:23826305 RGD:7365004 NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
JBrowse link
G Il18 interleukin 18 ISO RGD PMID:22046355 RGD:6893447 NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
JBrowse link
G Il1b interleukin 1 beta ISO
IEP
mRNA:increased expression:kidney (mouse)
mRNA, protein:increased expression:kidney
RGD PMID:22046355 PMID:9198037 RGD:6893447, RGD:7401232 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
JBrowse link
G Il1rn interleukin 1 receptor antagonist IDA RGD PMID:20071465 RGD:4145614 NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
JBrowse link
G Il4 interleukin 4 IMP
IDA
RGD PMID:9350645 PMID:17898087 RGD:2317673, RGD:2307059 NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
JBrowse link
G Itga4 integrin subunit alpha 4 treatment IDA
IMP
RGD PMID:9032136 PMID:7679412 RGD:2308810, RGD:9698425 NCBI chr 3:64,162,764...64,235,010
Ensembl chr 3:64,163,085...64,233,715
JBrowse link
G Mapk14 mitogen activated protein kinase 14 IEP RGD PMID:21894146 RGD:6218988 NCBI chr20:6,749,646...6,810,590
Ensembl chr20:6,749,670...6,810,589
JBrowse link
G Mapk8 mitogen-activated protein kinase 8 IEP RGD PMID:21894146 RGD:6218988 NCBI chr16:8,638,897...8,721,960
Ensembl chr16:8,638,924...8,721,981
JBrowse link
G Mif macrophage migration inhibitory factor IDA RGD PMID:10780884 RGD:1642011 NCBI chr20:12,790,919...12,791,784
Ensembl chr20:12,790,902...12,799,504
JBrowse link
G Mmp12 matrix metallopeptidase 12 IEP RGD PMID:21894146 RGD:6218988 NCBI chr 8:4,581,785...4,591,687
Ensembl chr 8:4,581,785...4,599,611
JBrowse link
G Mmp14 matrix metallopeptidase 14 IEP mRNA:increased expression:kidney, macrophage RGD PMID:10878552 RGD:2314954 NCBI chr15:27,887,795...27,897,020
Ensembl chr15:27,887,727...27,899,864
JBrowse link
G Nos2 nitric oxide synthase 2 IEP RGD PMID:21894146 RGD:6218988 NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
JBrowse link
G Nppb natriuretic peptide B ISO RGD PMID:11729234 RGD:7248605 NCBI chr 5:158,416,813...158,418,175
Ensembl chr 5:158,416,866...158,418,168
JBrowse link
G Pdcd1 programmed cell death 1 treatment IEP RGD PMID:21965585 RGD:7248671 NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937
JBrowse link
G Ppara peroxisome proliferator activated receptor alpha ISO RGD PMID:17888025 RGD:5563035 NCBI chr 7:116,832,405...116,900,878
Ensembl chr 7:116,832,756...116,895,346
JBrowse link
G Ptk2b protein tyrosine kinase 2 beta IEP protein:increased expression:glomerulus RGD PMID:11774117 RGD:729912 NCBI chr15:40,360,722...40,481,235
Ensembl chr15:40,360,723...40,481,282
JBrowse link
G Rapgef1 Rap guanine nucleotide exchange factor 1 IEP protein:increased expression:renal glomerulus RGD PMID:18784646 RGD:11534983 NCBI chr 3:12,898,349...13,016,234
Ensembl chr 3:12,898,266...13,013,984
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO DNA:polymorphism (human) RGD PMID:21569485 RGD:5147561 NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
JBrowse link
G Selp selectin P IDA RGD PMID:21894146 RGD:6218988 NCBI chr13:76,476,229...76,511,846
Ensembl chr13:76,476,295...76,511,845
JBrowse link
G Slc34a1 solute carrier family 34 member 1 ISO protein:decreased expression:kidney, brush border membrane (mouse) RGD PMID:19193726 RGD:7242947 NCBI chr17:9,218,876...9,233,852
Ensembl chr17:9,218,876...9,233,852
JBrowse link
G Slit2 slit guidance ligand 2 IEP mRNA:decreased expression:kidney, glomerulus RGD PMID:15215188 RGD:2316132 NCBI chr14:62,616,337...62,955,934
Ensembl chr14:62,617,067...62,955,948
JBrowse link
G Spp1 secreted phosphoprotein 1 ISO RGD PMID:20504883 RGD:6903276 NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162
JBrowse link
G Syk spleen associated tyrosine kinase IMP RGD PMID:21894146 RGD:6218988 NCBI chr17:12,604,615...12,678,437
Ensembl chr17:12,604,619...12,661,410
JBrowse link
G Tnf tumor necrosis factor IEP RGD PMID:21894146 RGD:6218988 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO protein:increased expression:urine, serum: RGD PMID:23460853 RGD:7241232 NCBI chr 2:204,038,120...204,057,852
Ensembl chr 2:204,038,114...204,057,958
JBrowse link
G Xcl1 X-C motif chemokine ligand 1 IEP mRNA:increased expression:glomerulus RGD PMID:9717977 RGD:8693304 NCBI chr13:77,248,865...77,252,308
Ensembl chr13:77,248,717...77,252,329
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    syndrome 8125
      Goodpasture syndrome 55
        anti-basement membrane glomerulonephritis 55
Path 2
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      Immune & Inflammatory Diseases 4007
        immune system disease 3367
          primary immunodeficiency disease 2705
            autoimmune disease 1845
              autoimmune disease of urogenital tract 55
                Goodpasture syndrome 55
                  anti-basement membrane glomerulonephritis 55
paths to the root