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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:mesangial proliferative glomerulonephritis
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Accession:DOID:4783 term browser browse the term
Definition:Inflammation of the renal glomeruli characterized histologically by proliferation of MESANGIAL CELLS and increase in the MESANGIAL EXTRACELLULAR MATRIX.
Synonyms:exact_synonym: mesangioproliferative glomerulonephritis
 xref: GARD:9580;   NCI:C35445
For additional species annotation, visit the Alliance of Genome Resources.


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mesangial proliferative glomerulonephritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbn1 fibrillin 1 IEP mRNA:increased expression:cortex of kidney RGD PMID:25482639 RGD:12910487 NCBI chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120
JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 IEP mRNA:increased expression:mesangial cell RGD PMID:10592054 RGD:10402100 NCBI chr16:71,265,390...71,319,046
Ensembl chr16:71,266,248...71,319,449
JBrowse link
G Gadd45g growth arrest and DNA-damage-inducible, gamma IEP mRNA,protein:increased expression:kidney RGD PMID:16736195 RGD:14700866 NCBI chr17:13,391,474...13,393,219
Ensembl chr17:13,391,467...13,393,243
JBrowse link
G Itga8 integrin subunit alpha 8 IEP mRNA:increased expression:cortex of kidney RGD PMID:25482639 RGD:12910487 NCBI chr17:79,321,893...79,676,927
Ensembl chr17:79,321,900...79,676,499
JBrowse link
G Nr4a1 nuclear receptor subfamily 4, group A, member 1 IEP mRNA,protein:increased expression:kidney RGD PMID:16736195 RGD:14700866 NCBI chr 7:142,899,358...142,920,216
Ensembl chr 7:142,905,758...142,920,216
JBrowse link
G Pdgfd platelet derived growth factor D treatment IMP
IEP
mRNA,protein:increased expression:glomerulus,serum: RGD PMID:17308324, PMID:12937299 RGD:9854629, RGD:9854637 NCBI chr 8:4,441,010...4,666,754
Ensembl chr 8:4,440,876...4,669,014
JBrowse link
G Rapgef1 Rap guanine nucleotide exchange factor 1 IEP protein:increased expression:renal glomerulus RGD PMID:20725139 RGD:11534982 NCBI chr 3:8,189,594...8,307,077
Ensembl chr 3:8,192,575...8,304,976
JBrowse link
G Vwf von Willebrand factor IEP protein:increased expression:glomerulus: RGD PMID:10450036 RGD:11079208 NCBI chr 4:158,085,059...158,219,525
Ensembl chr 4:158,088,505...158,219,523
JBrowse link
Chronic Mesangial Proliferative Glomerulonephritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cx3cl1 C-X3-C motif chemokine ligand 1 IEP RGD PMID:12028445 RGD:9491783 NCBI chr19:10,644,267...10,654,861
Ensembl chr19:10,644,244...10,653,800
JBrowse link
G Cx3cr1 C-X3-C motif chemokine receptor 1 IEP RGD PMID:12028445 RGD:9491783 NCBI chr 8:128,740,756...128,754,514
Ensembl chr 8:128,740,756...128,754,514
JBrowse link
Glomerulonephritis with Isolated C3 Deposits and Factor H Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfh complement factor H ISO DNA:SNPs,Haplotype:: RGD PMID:17517971, PMID:17517971 RGD:7364995, RGD:7364995 NCBI chr13:56,979,155...57,080,540
Ensembl chr13:56,978,607...57,080,622
JBrowse link
Glomerulopathy with Giant Fibrillar Deposits term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fn1 fibronectin 1 ISO ClinVar Annotator: match by term: Glomerulopathy with fibronectin deposits 2
ClinVar Annotator: match by OMIM:601894
OMIM
ClinVar
PMID:1544672, PMID:7564073, PMID:7747733, PMID:12042895, PMID:18268355, PMID:25741868, PMID:28492532 NCBI chr 9:78,900,111...78,969,018
Ensembl chr 9:78,900,103...78,969,078
JBrowse link
hypotrichosis-lymphedema-telangiectasia-renal defect syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sox18 SRY-box transcription factor 18 ISO ClinVar Annotator: match by term: Glomerulonephritis with sparse hair and telangiectases ClinVar
OMIM
PMID:2484451, PMID:12740761, PMID:24697860, PMID:25741868, PMID:29307792 NCBI chr 3:177,177,237...177,179,039
Ensembl chr 3:177,177,310...177,179,127
JBrowse link
G Tcea2 transcription elongation factor A2 ISO ClinVar Annotator: match by term: Glomerulonephritis with sparse hair and telangiectases ClinVar PMID:2484451, PMID:12740761, PMID:24697860, PMID:25741868, PMID:29307792 NCBI chr 3:177,187,686...177,195,898
Ensembl chr 3:177,188,044...177,195,894
JBrowse link
membranoproliferative glomerulonephritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alb albumin ISO CTD Direct Evidence: marker/mechanism CTD PMID:1556257 NCBI chr14:19,176,275...19,191,793
Ensembl chr14:19,176,277...19,191,863
JBrowse link
G Angpt2 angiopoietin 2 IEP
IDA
protein:increased expression:glomerulus (rat) RGD PMID:18272601, PMID:16014048 RGD:2314193, RGD:2314222 NCBI chr16:75,966,480...76,016,147
Ensembl chr16:75,966,352...76,016,195
JBrowse link
G C1qa complement C1q A chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:8840296 NCBI chr 5:155,261,254...155,264,101
Ensembl chr 5:155,261,250...155,264,143
JBrowse link
G C3 complement C3 ISO ClinVar Annotator: match by term: Mesangiocapillary glomerulonephritis ClinVar PMID:32581362 NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 treatment IMP RGD PMID:10411686 RGD:8549648 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Ccn2 cellular communication network factor 2 IEP protein:increased expression:kidney, glomerulus (rat) RGD PMID:15172885 RGD:1601118 NCBI chr 1:21,851,657...21,854,773
Ensembl chr 1:21,851,660...21,854,773
JBrowse link
G Ccr6 C-C motif chemokine receptor 6 treatment IEP RGD PMID:23192593 RGD:7483632 NCBI chr 1:53,063,380...53,087,519
Ensembl chr 1:53,065,025...53,087,474
JBrowse link
G Cdk2 cyclin dependent kinase 2 IMP RGD PMID:17893107 RGD:2293563 NCBI chr 7:3,124,953...3,132,533
Ensembl chr 7:3,124,954...3,132,457
JBrowse link
G Cdkn1b cyclin-dependent kinase inhibitor 1B IEP protein:decreased expression:kidney RGD PMID:16787597 RGD:2293620 NCBI chr 4:168,689,043...168,694,159
Ensembl chr 4:168,689,163...168,693,964
JBrowse link
G Cfb complement factor B ISO RGD PMID:12091909, PMID:2329415 RGD:734771, RGD:7242760 NCBI chr20:4,536,206...4,542,073
Ensembl chr20:4,536,203...4,561,066
Ensembl chr20:4,536,203...4,561,066
JBrowse link
G Cfh complement factor H ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Mesangiocapillary glomerulonephritis
ClinVar Annotator: match by term: Membranoproliferative glomerulonephritis with complement factor h deficiency
ClinVar Annotator: match by term: Mesangiocapillary glomerulonephritis, type II
CTD
ClinVar
PMID:8072530, PMID:11158219, PMID:11978762, PMID:12424708, PMID:12697737, PMID:14978182, PMID:15761120, PMID:15870199, PMID:16299065, PMID:16619239, PMID:17018561, PMID:17947292, PMID:18252712, PMID:18557729, PMID:19190809, PMID:19259132, PMID:19297022, PMID:21415311, PMID:21909106, PMID:22019782, PMID:22171659, PMID:22223606, PMID:22389686, PMID:22403278, PMID:22456601, PMID:23852337, PMID:24036949, PMID:24498017, PMID:25037630, PMID:25741868, PMID:25814826, PMID:25880396, PMID:26559391, PMID:28492532, PMID:32581362 NCBI chr13:56,979,155...57,080,540
Ensembl chr13:56,978,607...57,080,622
JBrowse link
G Cfi complement factor I ISO RGD PMID:18202746 RGD:6906892 NCBI chr 2:235,264,149...235,305,779
Ensembl chr 2:235,264,219...235,305,781
JBrowse link
G Cxcr1 C-X-C motif chemokine receptor 1 IEP RGD PMID:23336303 RGD:7207859 NCBI chr 9:81,466,430...81,469,299
Ensembl chr 9:81,466,332...81,469,274
JBrowse link
G Edn1 endothelin 1 treatment IEP
IMP
mRNA, protein:increased expression:glomerulus (rat) RGD PMID:8569091, PMID:11601021 RGD:4144848, RGD:8662296 NCBI chr17:22,136,814...22,143,745
Ensembl chr17:22,137,324...22,143,324
JBrowse link
G Ep300 E1A binding protein p300 treatment IMP RGD PMID:24344329 RGD:9588308 NCBI chr 7:122,818,194...122,889,055
Ensembl chr 7:122,818,975...122,861,296
JBrowse link
G F5 coagulation factor V IMP RGD PMID:15172885 RGD:1601118 NCBI chr13:82,479,997...82,535,540
Ensembl chr13:82,479,998...82,535,534
JBrowse link
G Fn1 fibronectin 1 IEP RGD PMID:10082755 RGD:7206847 NCBI chr 9:78,900,111...78,969,018
Ensembl chr 9:78,900,103...78,969,078
JBrowse link
G Il1b interleukin 1 beta IDA RGD PMID:21871881 RGD:7175308 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Kcnt2 potassium sodium-activated channel subfamily T member 2 ISO ClinVar Annotator: match by term: Mesangiocapillary glomerulonephritis ClinVar PMID:32581362 NCBI chr13:57,130,855...57,520,263
Ensembl chr13:57,131,395...57,521,836
JBrowse link
G Myoc myocilin IEP protein:increased expression:renal glomerulus (rat) RGD PMID:15610237 RGD:7401266 NCBI chr13:80,517,531...80,527,928
Ensembl chr13:80,517,536...80,527,928
JBrowse link
G Pfn1 profilin 1 IDA RGD PMID:8651905 RGD:729497 NCBI chr10:57,273,003...57,275,708
Ensembl chr10:57,273,005...57,275,708
JBrowse link
G Pon1 paraoxonase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16175651 NCBI chr 4:30,249,749...30,276,297
Ensembl chr 4:30,249,742...30,276,372
JBrowse link
G Prf1 perforin 1 IEP mRNA:increased expression:glomerulus RGD PMID:10886554 RGD:1599935 NCBI chr20:30,915,294...30,920,804
Ensembl chr20:30,915,213...30,921,382
JBrowse link
G Sparc secreted protein acidic and cysteine rich IEP mRNA:increased expression:glomerulus RGD PMID:8644857 RGD:2300070 NCBI chr10:40,742,390...40,764,232
Ensembl chr10:40,742,400...40,764,185
JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 IDA RGD PMID:11703592 RGD:1601601 NCBI chr 8:124,310,288...124,399,345
Ensembl chr 8:124,312,754...124,399,494
JBrowse link
G Tlr1 toll-like receptor 1 ISO mRNA:increased expression:renal glomerulus (mouse) RGD PMID:18256364 RGD:7246909 NCBI chr14:45,062,662...45,065,014
Ensembl chr14:45,062,662...45,081,991
JBrowse link
G Tlr11 toll-like receptor 11 ISO mRNA:increased expression:renal glomerulus (mouse) RGD PMID:18256364 RGD:7246909 NCBI chr15:27,177,900...27,182,339
Ensembl chr15:27,177,900...27,182,339
JBrowse link
G Tlr2 toll-like receptor 2 ISO mRNA:increased expression:renal glomerulus (mouse) RGD PMID:18256364 RGD:7246909 NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
JBrowse link
G Tlr4 toll-like receptor 4 ISO mRNA:increased expression:renal glomerulus (mouse) RGD PMID:18256364 RGD:7246909 NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
JBrowse link
G Tlr5 toll-like receptor 5 ISO mRNA:increased expression:renal glomerulus (mouse) RGD PMID:18256364 RGD:7246909 NCBI chr13:101,364,784...101,385,764
Ensembl chr13:101,381,510...101,385,764
JBrowse link
G Tlr6 toll-like receptor 6 ISO mRNA:increased expression:renal glomerulus (mouse) RGD PMID:18256364 RGD:7246909 NCBI chr14:45,024,351...45,041,188
Ensembl chr14:45,024,351...45,046,446
JBrowse link
G Tlr7 toll-like receptor 7 ISO mRNA:increased expression:renal glomerulus (mouse) RGD PMID:18256364 RGD:7246909 NCBI chr  X:28,486,836...28,513,004
Ensembl chr  X:28,486,869...28,512,957
JBrowse link
G Tlr8 toll-like receptor 8 ISO mRNA:increased expression:renal glomerulus (mouse) RGD PMID:18256364 RGD:7246909 NCBI chr  X:28,539,158...28,562,803
Ensembl chr  X:28,539,158...28,562,803
JBrowse link
G Tlr9 toll-like receptor 9 ISO mRNA:increased expression:renal glomerulus (mouse) RGD PMID:18256364 RGD:7246909 NCBI chr 8:114,916,122...114,920,171
Ensembl chr 8:114,916,122...114,920,171
JBrowse link
G Tslp thymic stromal lymphopoietin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17686814 NCBI chr18:25,613,601...25,618,066
Ensembl chr18:25,613,831...25,617,361
JBrowse link
nephrotic syndrome type 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dgke diacylglycerol kinase epsilon ISO ClinVar Annotator: match by term: Nephrotic syndrome, type 7
ClinVar Annotator: match by OMIM:615008
OMIM
ClinVar
PMID:23274426, PMID:23542698, PMID:24747643, PMID:25741868, PMID:29590070, PMID:30311386 NCBI chr10:76,375,981...76,408,224
Ensembl chr10:76,386,471...76,407,989
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      Immune & Inflammatory Diseases 3511
        Inflammation 2163
          nephritis 423
            glomerulonephritis 373
              mesangial proliferative glomerulonephritis 49
                Chronic Mesangial Proliferative Glomerulonephritis + 41
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      Urogenital Diseases 4145
        urinary system disease 2069
          kidney disease 1857
            nephritis 423
              glomerulonephritis 373
                mesangial proliferative glomerulonephritis 49
                  Chronic Mesangial Proliferative Glomerulonephritis + 41
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.