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
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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 chr 8:69,643,427...69,663,152
Ensembl chr 8:69,531,487...69,721,696
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ANGPT2
angiopoietin 2
ISO
protein:increased expression:glomerulus (rat)
RGD
PMID:16014048 PMID:18272601
RGD:2314193 RGD:2314222
NCBI chr15:37,544,177...37,600,925
Ensembl chr15:37,544,707...37,599,041
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C1QA
complement C1q A chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8840296
NCBI chr 6:80,586,259...80,589,213
Ensembl chr 6:80,586,280...80,589,204
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C3
complement C3
ISO
ClinVar Annotator: match by term: Mesangiocapillary glomerulonephritis
ClinVar
PMID:32581362
NCBI chr 2:72,431,470...72,471,622
Ensembl chr 2:72,431,212...72,472,228
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CCL2
chemokine (C-C motif) ligand 2
treatment
ISO
RGD
PMID:10411686
RGD:8549648
NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,026
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CCN2
cellular communication network factor 2
ISO
protein:increased expression:kidney, glomerulus (rat)
RGD
PMID:15172885
RGD:1601118
NCBI chr 1:31,674,398...31,677,697
Ensembl chr 1:31,674,394...31,677,691
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CCR6
C-C motif chemokine receptor 6
treatment
ISO
RGD
PMID:23192593
RGD:7483632
NCBI chr 1:2,016,600...2,034,172
Ensembl chr 1:2,018,608...2,019,821
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CDK2
cyclin dependent kinase 2
ISO
RGD
PMID:17893107
RGD:2293563
NCBI chr 5:21,365,723...21,372,170
Ensembl chr 5:21,365,764...21,372,168
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CDKN1B
cyclin dependent kinase inhibitor 1B
ISO
protein:decreased expression:kidney
RGD
PMID:16787597
RGD:2293620
NCBI chr 5:59,731,224...59,735,831
Ensembl chr 5:59,731,206...59,735,831
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CFB
complement factor B
ISO
RGD
PMID:2329415 PMID:12091909
RGD:7242760 RGD:734771
NCBI chr 7:24,034,077...24,040,523
Ensembl chr 7:24,034,332...24,041,179
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CFH
complement factor H
ISO
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
ClinVar
PMID:21415311 PMID:22223606 PMID:22403278 PMID:25741868 PMID:28492532 PMID:32581362 PMID:34189567 PMID:34508573 More...
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CFI
complement factor I
ISO
RGD
PMID:18202746
RGD:6906892
NCBI chr 8:112,430,824...112,470,844
Ensembl chr 8:112,433,633...112,470,832
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EDN1
endothelin 1
treatment
ISO
mRNA, protein:increased expression:glomerulus (rat)
RGD
PMID:8569091 PMID:11601021
RGD:4144848 RGD:8662296
NCBI chr 7:8,752,018...8,758,354
Ensembl chr 7:8,751,695...8,758,348
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EP300
E1A binding protein p300
treatment
ISO
RGD
PMID:24344329
RGD:9588308
NCBI chr 5:7,311,165...7,394,515
Ensembl chr 5:7,311,171...7,393,760
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F5
coagulation factor V
ISO
RGD
PMID:15172885
RGD:1601118
NCBI chr 4:81,403,273...81,484,908
Ensembl chr 4:81,403,274...81,485,066
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FN1
fibronectin 1
ISO
RGD
PMID:10082755
RGD:7206847
NCBI chr15:117,658,158...117,737,145
Ensembl chr15:117,658,099...117,731,043
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KCNT2
potassium sodium-activated channel subfamily T member 2
ISO
ClinVar Annotator: match by term: Mesangiocapillary glomerulonephritis
ClinVar
PMID:32581362
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LOC110258578
interleukin-1 beta-like
ISO
RGD
PMID:21871881
RGD:7175308
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MYOC
myocilin
ISO
protein:increased expression:renal glomerulus (rat)
RGD
PMID:15610237
RGD:7401266
NCBI chr 9:114,087,370...114,098,765
Ensembl chr 9:114,087,378...114,098,745
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PFN1
profilin 1
ISO
RGD
PMID:8651905
RGD:729497
NCBI chr12:51,962,642...51,965,570
Ensembl chr12:51,961,952...51,965,464
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PON1
paraoxonase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16175651
NCBI chr 9:74,943,646...74,974,720
Ensembl chr 9:74,926,048...74,974,723
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PRF1
perforin 1
ISO
mRNA:increased expression:glomerulus
RGD
PMID:10886554
RGD:1599935
NCBI chr14:73,515,306...73,520,256
Ensembl chr14:73,512,769...73,520,202
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SPARC
secreted protein acidic and cysteine rich
ISO
mRNA:increased expression:glomerulus
RGD
PMID:8644857
RGD:2300070
NCBI chr16:71,368,164...71,380,972
Ensembl chr16:71,357,586...71,381,161
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TGFBR2
transforming growth factor beta receptor 2
ISO
RGD
PMID:11703592
RGD:1601601
NCBI chr13:16,784,370...16,875,828
Ensembl chr13:16,784,490...16,878,160
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TLR1
toll like receptor 1
ISO
mRNA:increased expression:renal glomerulus (mouse)
RGD
PMID:18256364
RGD:7246909
NCBI chr 8:30,147,600...30,155,454
Ensembl chr 8:30,147,624...30,155,466
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TLR2
toll like receptor 2
ISO
mRNA:increased expression:renal glomerulus (mouse)
RGD
PMID:18256364
RGD:7246909
NCBI chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,993...75,428,330
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TLR4
toll like receptor 4
ISO
mRNA:increased expression:renal glomerulus (mouse)
RGD
PMID:18256364
RGD:7246909
NCBI chr 1:258,044,610...258,054,641
Ensembl chr 1:258,044,610...258,058,970
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TLR5
toll like receptor 5
ISO
mRNA:increased expression:renal glomerulus (mouse)
RGD
PMID:18256364
RGD:7246909
NCBI chr10:19,387,666...19,410,024
Ensembl chr10:19,387,666...19,410,024
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TLR6
toll like receptor 6
ISO
mRNA:increased expression:renal glomerulus (mouse)
RGD
PMID:18256364
RGD:7246909
NCBI chr 8:30,159,744...30,180,650
Ensembl chr 8:30,159,754...30,180,650
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TLR7
toll like receptor 7
ISO
mRNA:increased expression:renal glomerulus (mouse)
RGD
PMID:18256364
RGD:7246909
NCBI chr X:9,573,178...9,576,987
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TLR8
toll like receptor 8
ISO
mRNA:increased expression:renal glomerulus (mouse)
RGD
PMID:18256364
RGD:7246909
NCBI chr X:9,551,284...9,616,762
Ensembl chr X:9,597,604...9,616,757
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TLR9
toll like receptor 9
ISO
mRNA:increased expression:renal glomerulus (mouse)
RGD
PMID:18256364
RGD:7246909
NCBI chr13:34,353,444...34,370,990
Ensembl chr13:34,349,609...34,357,673
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TSLP
thymic stromal lymphopoietin
ISO
CTD Direct Evidence: marker/mechanism OMIM:305800
CTD MouseDO
PMID:17686814
NCBI chr 2:115,832,152...115,837,572
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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...
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CFH
complement factor H
ISO
DNA:SNPs,Haplotype::
RGD
PMID:17517971
RGD:7364995
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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 chr15:117,617,584...117,649,063
Ensembl chr15:117,617,502...117,649,107
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FN1
fibronectin 1
ISO
ClinVar Annotator: match by term: Glomerulopathy with fibronectin deposits 2
OMIM 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 chr15:117,658,158...117,737,145
Ensembl chr15:117,658,099...117,731,043
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INF2
inverted formin 2
ISO
ClinVar Annotator: match by term: Glomerulopathy with fibronectin deposits 2
ClinVar
PMID:25741868
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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 chr17:62,869,868...62,871,758
Ensembl chr17:62,869,870...62,871,748
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DGKE
diacylglycerol kinase epsilon
susceptibility
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 chr12:33,141,439...33,172,412
Ensembl chr12:33,141,505...33,172,405
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