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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:membranoproliferative glomerulonephritis
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Accession:DOID:2920 term browser browse the term
Definition:Chronic glomerulonephritis characterized histologically by proliferation of MESANGIAL CELLS, increase in the MESANGIAL EXTRACELLULAR MATRIX, and a thickening of the glomerular capillary walls. This may appear as a primary disorder or secondary to other diseases including infections and autoimmune disease SYSTEMIC LUPUS ERYTHEMATOSUS. Various subtypes are classified by their abnormal ultrastructures and immune deposits. Hypocomplementemia is a characteristic feature of all types of MPGN.
Synonyms:exact_synonym: Dense Deposit Disease;   Hypocomplementemic Glomerulonephritis;   MPGN;   Membranoproliferative Glomerulonephritis, Type I;   Mesangiocapillary Glomerulonephritis;   Mesangiocapillary Glomerulonephritis, Type I;   Subendothelial Membranoproliferative Glomerulonephritis;   chronic glomerulonephritis, lobular;   lobular glomerulonephritis
 narrow_synonym: MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS WITH COMPLEMENT FACTOR H DEFICIENCY;   MESANGIOCAPILLARY GLOMERULONEPHRITIS, TYPE II;   Membranoproliferative Glomerulonephritis Type II;   Membranoproliferative Glomerulonephritis, Type III;   NON-IMMUNOGLOBULIN-MEDIATED MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS
 xref: GARD:11982;   MESH:D015432;   MIM:PS137950;   MONDO:0002461;   NCI:C34644
For additional species annotation, visit the Alliance of Genome Resources.


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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 chr14:17,891,564...17,907,043
Ensembl chr14:17,891,582...17,911,865 		JBrowse link
G Angpt2 angiopoietin 2 IEP
IDA 		protein:increased expression:glomerulus (rat) RGD PMID:18272601 PMID:16014048 RGD:2314193, RGD:2314222 NCBI chr16:71,088,364...71,138,805
Ensembl chr16:77,790,563...77,841,239 		JBrowse link
G C1qa complement C1q A chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:8840296 NCBI chr 5:149,133,635...149,136,482
Ensembl chr 5:154,417,087...154,427,732 		JBrowse link
G C3 complement C3 ISO ClinVar Annotator: match by term: Mesangiocapillary glomerulonephritis ClinVar PMID:32581362 NCBI chr 9:2,174,412...2,201,339
Ensembl chr 9:2,174,412...2,201,339 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 treatment IMP RGD PMID:10411686 RGD:8549648 NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,503,077...67,504,875 		JBrowse link
G Ccn2 cellular communication network factor 2 IEP protein:increased expression:kidney, glomerulus (rat) RGD PMID:15172885 RGD:1601118 NCBI chr 1:22,621,498...22,624,614
Ensembl chr 1:22,621,501...22,624,976 		JBrowse link
G Ccr6 C-C motif chemokine receptor 6 treatment IEP RGD PMID:23192593 RGD:7483632 NCBI chr 1:52,474,477...52,508,301
Ensembl chr 1:55,021,833...55,046,059 		JBrowse link
G Cdk2 cyclin dependent kinase 2 IMP RGD PMID:17893107 RGD:2293563 NCBI chr 7:1,714,392...1,721,964
Ensembl chr 7:1,714,392...1,721,878 		JBrowse link
G Cdkn1b cyclin-dependent kinase inhibitor 1B IEP protein:decreased expression:kidney RGD PMID:16787597 RGD:2293620 NCBI chr 4:169,491,273...169,496,500
Ensembl chr 4:169,490,876...169,496,498 		JBrowse link
G Cfb complement factor B ISO RGD PMID:12091909 PMID:2329415 RGD:734771, RGD:7242760 NCBI chr20:3,975,271...3,981,138
Ensembl chr20:3,955,776...3,981,740 		JBrowse link
G Cfh complement factor H ISO
ISS 		CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Mesangiocapillary glomerulonephritis | ClinVar Annotator: match by term: Mesangiocapillary glomerulonephritis, type II | ClinVar Annotator: match by term: Non-immunoglobulin-mediated membranoproliferative glomerulonephritis
OMIM:305800 		CTD
ClinVar
MouseDO		 PMID:14978182 PMID:21415311 PMID:22223606 PMID:22403278 PMID:25741868 More... NCBI chr13:54,063,079...54,164,523
Ensembl chr13:54,062,531...54,164,532 		JBrowse link
G Cfi complement factor I ISO RGD PMID:18202746 RGD:6906892 NCBI chr 2:218,389,079...218,430,565
Ensembl chr 2:221,062,212...221,104,786 		JBrowse link
G Cxcr1 C-X-C motif chemokine receptor 1 IEP RGD PMID:23336303 RGD:7207859 NCBI chr 9:75,766,894...75,771,079
Ensembl chr 9:83,215,292...83,226,872 		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 chr17:22,660,799...22,666,687
Ensembl chr17:22,660,799...22,666,687 		JBrowse link
G Ep300 E1A binding protein p300 treatment IMP RGD PMID:24344329 RGD:9588308 NCBI chr 7:114,987,857...115,058,652
Ensembl chr 7:114,946,982...115,058,574 		JBrowse link
G F5 coagulation factor V IMP RGD PMID:15172885 RGD:1601118 NCBI chr13:79,046,657...79,116,247
Ensembl chr13:79,046,448...79,116,247 		JBrowse link
G Fn1 fibronectin 1 IEP RGD PMID:10082755 RGD:7206847 NCBI chr 9:80,645,507...80,714,200
Ensembl chr 9:80,645,507...80,714,137 		JBrowse link
G Il1b interleukin 1 beta IDA RGD PMID:21871881 RGD:7175308 NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:137,030,205...137,036,601 		JBrowse link
G Kcnt2 potassium sodium-activated channel subfamily T member 2 ISO ClinVar Annotator: match by term: Mesangiocapillary glomerulonephritis ClinVar PMID:32581362 NCBI chr13:51,664,129...52,059,209
Ensembl chr13:54,215,307...54,607,924 		JBrowse link
G Myoc myocilin IEP protein:increased expression:renal glomerulus (rat) RGD PMID:15610237 RGD:7401266 NCBI chr13:77,509,963...77,520,361
Ensembl chr13:77,509,963...77,520,361 		JBrowse link
G Pfn1 profilin 1 IDA RGD PMID:8651905 RGD:729497 NCBI chr10:55,863,882...55,866,587
Ensembl chr10:55,863,881...55,868,611 		JBrowse link
G Pon1 paraoxonase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16175651 NCBI chr 4:34,261,312...34,292,327
Ensembl chr 4:34,261,289...34,287,924 		JBrowse link
G Prf1 perforin 1 IEP mRNA:increased expression:glomerulus RGD PMID:10886554 RGD:1599935 NCBI chr20:29,789,040...29,794,550
Ensembl chr20:29,788,972...29,795,124 		JBrowse link
G Sparc secreted protein acidic and cysteine rich IEP mRNA:increased expression:glomerulus RGD PMID:8644857 RGD:2300070 NCBI chr10:40,017,065...40,038,816
Ensembl chr10:40,017,075...40,039,268 		JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 IDA RGD PMID:11703592 RGD:1601601 NCBI chr 8:124,672,677...124,761,741
Ensembl chr 8:124,674,986...124,761,469 		JBrowse link
G Tlr1 toll-like receptor 1 ISO mRNA:increased expression:renal glomerulus (mouse) RGD PMID:18256364 RGD:7246909 NCBI chr14:43,384,127...43,396,765
Ensembl chr14:43,740,379...43,756,243 		JBrowse link
G Tlr11 toll-like receptor 11 ISO mRNA:increased expression:renal glomerulus (mouse) RGD PMID:18256364 RGD:7246909 NCBI chr15:23,545,408...23,549,849
Ensembl chr15:26,018,987...26,024,110 		JBrowse link
G Tlr2 toll-like receptor 2 ISO mRNA:increased expression:renal glomerulus (mouse) RGD PMID:18256364 RGD:7246909 NCBI chr 2:171,499,189...171,504,831
Ensembl chr 2:171,497,060...171,520,194 		JBrowse link
G Tlr4 toll-like receptor 4 ISO mRNA:increased expression:renal glomerulus (mouse) RGD PMID:18256364 RGD:7246909 NCBI chr 5:85,161,247...85,174,882
Ensembl chr 5:85,161,192...85,175,007 		JBrowse link
G Tlr5 toll-like receptor 5 ISO mRNA:increased expression:renal glomerulus (mouse) RGD PMID:18256364 RGD:7246909 NCBI chr13:97,166,430...97,190,642
Ensembl chr13:97,166,405...97,192,525 		JBrowse link
G Tlr6 toll-like receptor 6 ISO mRNA:increased expression:renal glomerulus (mouse) RGD PMID:18256364 RGD:7246909 NCBI chr14:43,362,164...43,374,500
Ensembl chr14:43,698,751...43,740,462 		JBrowse link
G Tlr7 toll-like receptor 7 ISO mRNA:increased expression:renal glomerulus (mouse) RGD PMID:18256364 RGD:7246909 NCBI chr  X:27,027,380...27,054,309
Ensembl chr  X:30,644,355...30,672,151 		JBrowse link
G Tlr8 toll-like receptor 8 ISO mRNA:increased expression:renal glomerulus (mouse) RGD PMID:18256364 RGD:7246909 NCBI chr  X:27,091,780...27,116,092
Ensembl chr  X:30,708,033...30,737,079 		JBrowse link
G Tlr9 toll-like receptor 9 ISO mRNA:increased expression:renal glomerulus (mouse) RGD PMID:18256364 RGD:7246909 NCBI chr 8:115,743,407...115,747,523
Ensembl chr 8:115,742,889...115,750,148 		JBrowse link
G Tslp thymic stromal lymphopoietin ISO
ISS 		CTD Direct Evidence: marker/mechanism
OMIM:305800 		CTD
MouseDO		 PMID:17686814 NCBI chr18:24,723,990...24,728,419
Ensembl chr18:24,720,257...24,728,420 		JBrowse link
C3 Glomerulopathy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfh complement factor H ISO ClinVar Annotator: match by term: C3 GLOMERULOPATHY 3 | ClinVar Annotator: match by term: CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
ClinVar Annotator: match by term: CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II | ClinVar Annotator: match by term: CFHR5 deficiency 		ClinVar PMID:8072530 PMID:9536098 PMID:11158219 PMID:11170895 PMID:11978762 More... NCBI chr13:54,063,079...54,164,523
Ensembl chr13:54,062,531...54,164,532 		JBrowse link
G Cfi complement factor I ISO ClinVar Annotator: match by term: C3 glomerulonephritis ClinVar PMID:22710145 PMID:23431077 PMID:24036952 PMID:25741868 PMID:28492532 NCBI chr 2:218,389,079...218,430,565
Ensembl chr 2:221,062,212...221,104,786 		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 chr13:54,063,079...54,164,523
Ensembl chr13:54,062,531...54,164,532 		JBrowse link
Glomerulopathy with Giant Fibrillar Deposits term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO ClinVar Annotator: match by term: Glomerulopathy with fibronectin deposits 2 ClinVar PMID:25741868 PMID:28492532 PMID:29100092 PMID:32200603 NCBI chr 9:80,614,311...80,634,360
Ensembl chr 9:80,614,283...80,635,756 		JBrowse link
G Fn1 fibronectin 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Glomerulopathy with fibronectin deposits 2 		OMIM
CTD
ClinVar		 PMID:1544672 PMID:7564073 PMID:7747733 PMID:9536098 PMID:12042895 More... NCBI chr 9:80,645,507...80,714,200
Ensembl chr 9:80,645,507...80,714,137 		JBrowse link
G Inf2 inverted formin 2 ISO ClinVar Annotator: match by term: Glomerulopathy with fibronectin deposits 2 ClinVar PMID:25741868 NCBI chr 6:137,470,259...137,497,039
Ensembl chr 6:137,470,286...137,497,039 		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: Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome | ClinVar Annotator: match by term: TELANGIECTATIC MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS OMIM
ClinVar		 PMID:2484451 PMID:12740761 PMID:24697860 PMID:25741868 PMID:28492532 More... NCBI chr 3:168,785,488...168,787,290
Ensembl chr 3:189,163,002...189,164,802 		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: DGKE-related condition | ClinVar Annotator: match by term: Hemolytic uremic syndrome with DGKE deficiency | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 7 | ClinVar Annotator: match by term: Immunoglobulin-mediated membranoproliferative glomerulonephritis | ClinVar Annotator: match by term: Nephrotic syndrome, type 7 ClinVar
OMIM		 PMID:23274426 PMID:23542698 PMID:24747643 PMID:25135762 PMID:25349199 More... NCBI chr10:73,853,030...73,877,334
Ensembl chr10:74,350,246...74,374,478 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      immune system disease 5094
        membranoproliferative glomerulonephritis 40
          C3 Glomerulopathy 3 2
          Glomerulonephritis with Isolated C3 Deposits and Factor H Deficiency 1
          Glomerulonephritis with Isolated C3 Deposits and Factor I Deficiency 0
          Glomerulopathy with Giant Fibrillar Deposits 3
          Membranoproliferative Glomerulonephritis, X-Linked 0
          hypotrichosis-lymphedema-telangiectasia-renal defect syndrome 1
          nephrotic syndrome type 7 1
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      Urogenital Diseases 5238
        urinary system disease 2590
          kidney disease 2335
            nephritis 498
              glomerulonephritis 435
                mesangial proliferative glomerulonephritis 51
                  Chronic Mesangial Proliferative Glomerulonephritis 42
                    membranoproliferative glomerulonephritis 40
                      C3 Glomerulopathy 3 2
                      Glomerulonephritis with Isolated C3 Deposits and Factor H Deficiency 1
                      Glomerulonephritis with Isolated C3 Deposits and Factor I Deficiency 0
                      Glomerulopathy with Giant Fibrillar Deposits 3
                      Membranoproliferative Glomerulonephritis, X-Linked 0
                      hypotrichosis-lymphedema-telangiectasia-renal defect syndrome 1
                      nephrotic syndrome type 7 1
paths to the root