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
Accession: DOID:2920
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 Glomerulonephritides; Hypocomplementemic Glomerulonephritis; Lobular glomerulonephritis; MPGN; Membranoproliferative Glomerulonephritides; Membranoproliferative Glomerulonephritis, Type I; Mesangiocapillary Glomerulonephritides; Mesangiocapillary Glomerulonephritis; Mesangiocapillary Glomerulonephritis, Type I; Subendothelial Membranoproliferative Glomerulonephritis; chronic glomerulonephritis, lobular
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
primary_id: MESH:D015432
xref: GARD:11982 ; MIM:PS137950 ; NCI:C34644
For additional species annotation, visit the
Alliance of Genome Resources .
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Alb
albumin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1556257
NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
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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 chr16:71,088,364...71,138,804
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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 5:149,133,636...149,136,534
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C3
complement C3
ISO
ClinVar Annotator: match by term: Mesangiocapillary glomerulonephritis
ClinVar
PMID:32581362
NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
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Ccl2
C-C motif chemokine ligand 2
treatment
IMP
RGD
PMID:10411686
RGD:8549648
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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Ccn2
cellular communication network factor 2
IEP
protein:increased expression:kidney, glomerulus (rat)
RGD
PMID:15172885
RGD:1601118
NCBI chr 1:20,802,199...20,805,315
Ensembl chr 1:20,802,199...20,805,734
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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 1:52,474,168...52,498,603
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Cdk2
cyclin dependent kinase 2
IMP
RGD
PMID:17893107
RGD:2293563
NCBI chr 7:1,129,878...1,137,431
Ensembl chr 7:1,129,811...1,137,403
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Cdkn1b
cyclin-dependent kinase inhibitor 1B
IEP
protein:decreased expression:kidney
RGD
PMID:16787597
RGD:2293620
NCBI chr 4:167,760,067...167,765,177
Ensembl chr 4:167,760,181...167,764,982
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Cfb
complement factor B
ISO
RGD
PMID:12091909 PMID:2329415
RGD:734771 , RGD:7242760
NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505
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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 PMID:28492532 PMID:32581362 PMID:34189567 PMID:34508573 More...
NCBI chr13:51,512,376...51,613,829
Ensembl chr13:51,511,828...51,613,838
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Cfi
complement factor I
ISO
RGD
PMID:18202746
RGD:6906892
NCBI chr 2:218,389,079...218,430,565
Ensembl chr 2:218,387,990...218,430,561
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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 9:75,766,770...75,771,084
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Edn1
endothelin 1
treatment
IEP IMP
mRNA, protein:increased expression:glomerulus (rat)
RGD
PMID:8569091 PMID:11601021
RGD:4144848 , RGD:8662296
NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
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Ep300
E1A binding protein p300
treatment
IMP
RGD
PMID:24344329
RGD:9588308
NCBI chr 7:113,108,476...113,178,529
Ensembl chr 7:113,106,247...113,136,088 Ensembl chr 7:113,106,247...113,136,088
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F5
coagulation factor V
IMP
RGD
PMID:15172885
RGD:1601118
NCBI chr13:76,513,509...76,583,106
Ensembl chr13:76,513,255...76,582,317
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Fn1
fibronectin 1
IEP
RGD
PMID:10082755
RGD:7206847
NCBI chr 9:73,196,044...73,264,695
Ensembl chr 9:73,196,044...73,264,678
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Il1b
interleukin 1 beta
IDA
RGD
PMID:21871881
RGD:7175308
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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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 chr13:51,664,686...52,056,987
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Myoc
myocilin
IEP
protein:increased expression:renal glomerulus (rat)
RGD
PMID:15610237
RGD:7401266
NCBI chr13:74,976,730...74,987,128
Ensembl chr13:74,976,730...74,987,127
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Pfn1
profilin 1
IDA
RGD
PMID:8651905
RGD:729497
NCBI chr10:55,365,263...55,367,968
Ensembl chr10:55,365,262...55,527,631
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Pon1
paraoxonase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16175651
NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
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Prf1
perforin 1
IEP
mRNA:increased expression:glomerulus
RGD
PMID:10886554
RGD:1599935
NCBI chr20:29,246,202...29,251,712
Ensembl chr20:29,246,202...29,251,701
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Sparc
secreted protein acidic and cysteine rich
IEP
mRNA:increased expression:glomerulus
RGD
PMID:8644857
RGD:2300070
NCBI chr10:39,516,394...39,538,252
Ensembl chr10:39,516,406...39,538,396
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Tgfbr2
transforming growth factor, beta receptor 2
IDA
RGD
PMID:11703592
RGD:1601601
NCBI chr 8:115,794,537...115,883,615
Ensembl chr 8:115,794,537...115,883,228
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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 chr14:43,384,932...43,397,125
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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 chr15:23,545,408...23,549,849
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Tlr2
toll-like receptor 2
ISO
mRNA:increased expression:renal glomerulus (mouse)
RGD
PMID:18256364
RGD:7246909
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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Tlr4
toll-like receptor 4
ISO
mRNA:increased expression:renal glomerulus (mouse)
RGD
PMID:18256364
RGD:7246909
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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Tlr5
toll-like receptor 5
ISO
mRNA:increased expression:renal glomerulus (mouse)
RGD
PMID:18256364
RGD:7246909
NCBI chr13:94,634,778...94,658,992
Ensembl chr13:94,634,801...94,657,738
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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 chr14:43,362,164...43,375,685
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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:27,027,425...27,054,754
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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:27,091,778...27,116,549
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Tlr9
toll-like receptor 9
ISO
mRNA:increased expression:renal glomerulus (mouse)
RGD
PMID:18256364
RGD:7246909
NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
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Tslp
thymic stromal lymphopoietin
ISO ISS
CTD Direct Evidence: marker/mechanism OMIM:305800
CTD MouseDO
PMID:17686814
NCBI chr18:24,447,409...24,454,244
Ensembl chr18:24,449,844...24,453,548
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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
PMID:8072530 PMID:9536098 PMID:11158219 PMID:11978762 PMID:12424708 PMID:12697737 PMID:15761120 PMID:15870199 PMID:16299065 PMID:16338962 PMID:16601698 PMID:16619239 PMID:17018561 PMID:17576681 PMID:17599974 PMID:17947292 PMID:18235085 PMID:18252712 PMID:18557729 PMID:19190809 PMID:19259132 PMID:19297022 PMID:19454698 PMID:19633317 PMID:20016463 PMID:20059470 PMID:20203157 PMID:21317894 PMID:21415311 PMID:21909106 PMID:22019782 PMID:22171659 PMID:22223606 PMID:22389686 PMID:22403278 PMID:22410797 PMID:22456601 PMID:23431077 PMID:23852337 PMID:24036949 PMID:24036952 PMID:24498017 PMID:25037630 PMID:25741868 PMID:25814826 PMID:25880396 PMID:26215151 PMID:26501415 PMID:26559391 PMID:26691988 PMID:26826462 PMID:27718086 PMID:28011711 PMID:28492532 PMID:28859202 PMID:28941939 PMID:29410599 PMID:29500241 PMID:29888403 PMID:30560448 PMID:30674459 PMID:31447099 PMID:31575699 PMID:33369641 PMID:33519811 PMID:34189567 PMID:34508573 PMID:35925583 PMID:36246952 PMID:36445700 More...
NCBI chr13:51,512,376...51,613,829
Ensembl chr13:51,511,828...51,613,838
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Cfh
complement factor H
ISO
DNA:SNPs,Haplotype::
RGD
PMID:17517971 PMID:17517971
RGD:7364995 , RGD:7364995
NCBI chr13:51,512,376...51,613,829
Ensembl chr13:51,511,828...51,613,838
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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 9:73,164,846...73,184,897
Ensembl chr 9:73,164,846...73,184,889
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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 PMID:17576681 PMID:18268355 PMID:25741868 PMID:28492532 PMID:29100092 PMID:30599297 PMID:32200603 PMID:36774238 More...
NCBI chr 9:73,196,044...73,264,695
Ensembl chr 9:73,196,044...73,264,678
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Inf2
inverted formin 2
ISO
ClinVar Annotator: match by term: Glomerulopathy with fibronectin deposits 2
ClinVar
PMID:25741868
NCBI chr 6:131,649,162...131,675,944
Ensembl chr 6:131,649,211...131,675,941
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Sox18
SRY-box transcription factor 18
ISO
ClinVar Annotator: match by term: Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
OMIM ClinVar
PMID:2484451 PMID:12740761 PMID:24697860 PMID:25741868 PMID:28492532 PMID:29307792 More...
NCBI chr 3:168,785,488...168,787,290
Ensembl chr 3:168,785,490...168,787,290
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Dgke
diacylglycerol kinase epsilon
ISO
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 7 | ClinVar Annotator: match by term: DGKE-related condition | ClinVar Annotator: match by term: Hemolytic uremic syndrome with DGKE deficiency | 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 PMID:25443527 PMID:25741868 PMID:25854283 PMID:28056875 PMID:28492532 PMID:28496993 PMID:28526779 PMID:28720077 PMID:29127259 PMID:29590070 PMID:37466676 More...
NCBI chr10:73,853,030...73,877,334
Ensembl chr10:73,855,583...73,877,100
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