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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:glomerulosclerosis
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Accession:DOID:0050851 term browser browse the term
Definition:A type of renal injury consisting of fibrosis of glomeruli
Synonyms:primary_id: RDO:9000005
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
glomerulosclerosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 treatment ISO RGD PMID:21718676 RGD:12879389 NCBI chr11:105,967,948...105,989,964
Ensembl chr11:105,967,945...105,989,964
JBrowse link
G Ager advanced glycosylation end product-specific receptor treatment IMP
IDA
associated with Diabetic Nephropathies RGD PMID:23046363, PMID:20554645 RGD:7243247, RGD:7244139 NCBI chr17:34,597,460...34,600,937
Ensembl chr17:34,597,862...34,600,936
JBrowse link
G Agtr1a angiotensin II receptor, type 1a ISO mRNA:decreased expression:kidney RGD PMID:12495295 RGD:6903859 NCBI chr13:30,336,356...30,382,867
Ensembl chr13:30,336,441...30,382,867
JBrowse link
G Agtr2 angiotensin II receptor, type 2 ISO
IMP
associated with Kidney Failure, Chronic
mRNA:increased expression:kidney
RGD PMID:20042458, PMID:20631980, PMID:12495295 RGD:6903284, RGD:6903882, RGD:6903859 NCBI chr  X:21,484,624...21,488,833
Ensembl chr  X:21,484,544...21,489,164
JBrowse link
G Apoe apolipoprotein E ISO protein:increased expression:renal glomerulus (rat) RGD PMID:22207560, PMID:21907828 RGD:6903199, RGD:6903285 NCBI chr 7:19,696,244...19,701,310
Ensembl chr 7:19,696,109...19,699,188
JBrowse link
G Col3a1 collagen, type III, alpha 1 ISO RGD PMID:20610530 RGD:7257557 NCBI chr 1:45,311,538...45,349,706
Ensembl chr 1:45,311,538...45,349,706
JBrowse link
G Esr2 estrogen receptor 2 (beta) susceptibility IEP protein:decreased expression:renal glomerulus (mouse) RGD PMID:12000739 RGD:7364801 NCBI chr12:76,120,419...76,177,259
Ensembl chr12:76,120,419...76,177,259
JBrowse link
G Fbn1 fibrillin 1 IMP associated with Hypertension RGD PMID:16380460 RGD:7365080 NCBI chr 2:125,300,594...125,506,485
Ensembl chr 2:125,300,594...125,507,993
JBrowse link
G Hbegf heparin-binding EGF-like growth factor induced ISO RGD PMID:16107576 RGD:1556472 NCBI chr18:36,504,927...36,515,805
Ensembl chr18:36,504,927...36,515,805
JBrowse link
G Il1b interleukin 1 beta ISO associated with Hypertension RGD PMID:19948880 RGD:7175503 NCBI chr 2:129,364,569...129,371,164
Ensembl chr 2:129,364,570...129,371,139
JBrowse link
G Mmp1a matrix metallopeptidase 1a (interstitial collagenase) ISO associated with Hyperhomocysteinemia
protein:decreased expression:kidney (rat)
RGD PMID:20406136, PMID:21275176 RGD:7207203, RGD:7207363 NCBI chr 9:7,464,141...7,476,869
Ensembl chr 9:7,464,141...7,476,869
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO associated with Hyperhomocysteinemia
associated with Obesity;mRNA:decreased expression:glomerulus
RGD PMID:20406136, PMID:9300240 RGD:7207203, RGD:8547929 NCBI chr 2:164,940,326...164,955,850
Ensembl chr 2:164,940,780...164,955,850
JBrowse link
G Pla2g7 phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma) ISO RGD PMID:16213192 RGD:7248790 NCBI chr17:43,567,994...43,612,202
Ensembl chr17:43,568,098...43,612,201
JBrowse link
G Plekha7 pleckstrin homology domain containing, family A member 7 ISO RGD PMID:25136115 RGD:11079199 NCBI chr 7:116,123,485...116,308,383
Ensembl chr 7:116,123,485...116,308,376
JBrowse link
G Pparg peroxisome proliferator activated receptor gamma treatment ISO RGD PMID:11318962 RGD:8553043 NCBI chr 6:115,360,879...115,490,404
Ensembl chr 6:115,360,951...115,490,399
JBrowse link
G Rgs2 regulator of G-protein signaling 2 susceptibility ISO associated with Hypertension RGD PMID:26606876 RGD:13524570 NCBI chr 1:143,999,338...144,004,149
Ensembl chr 1:143,999,338...144,004,161
JBrowse link
G Rnls renalase, FAD-dependent amine oxidase ISO RGD PMID:24022426 RGD:7327155 NCBI chr19:33,137,740...33,392,295
Ensembl chr19:33,137,747...33,392,295
JBrowse link
G Serpine1 serine (or cysteine) peptidase inhibitor, clade E, member 1 treatment ISO mRNA, protein:increased expression:kidney (rat) RGD PMID:26999660, PMID:27129290 RGD:11073618, RGD:11073688 NCBI chr 5:137,061,504...137,072,272
Ensembl chr 5:137,061,504...137,072,268
JBrowse link
G Slc2a1 solute carrier family 2 (facilitated glucose transporter), member 1 IEP RGD PMID:19918242 RGD:12879501 NCBI chr 4:119,108,745...119,137,330
Ensembl chr 4:119,108,711...119,137,983
JBrowse link
G Spp1 secreted phosphoprotein 1 ISO RGD PMID:12675855 RGD:6903837 NCBI chr 5:104,435,111...104,441,053
Ensembl chr 5:104,435,118...104,441,050
JBrowse link
G Tnfrsf1b tumor necrosis factor receptor superfamily, member 1b IMP associated with Hypertension RGD PMID:23389459 RGD:7245475 NCBI chr 4:145,212,368...145,246,870
Ensembl chr 4:145,213,463...145,246,870
JBrowse link
focal segmental glomerulosclerosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace2 angiotensin I converting enzyme (peptidyl-dipeptidase A) 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16723697 NCBI chr  X:164,139,342...164,188,418
Ensembl chr  X:164,139,332...164,188,420
JBrowse link
G Acta2 actin, alpha 2, smooth muscle, aorta ISO CTD Direct Evidence: marker/mechanism CTD PMID:20493835 NCBI chr19:34,240,336...34,255,585
Ensembl chr19:34,241,090...34,255,590
JBrowse link
G Actn4 actinin alpha 4 susceptibility ISO CTD Direct Evidence: marker/mechanism CTD PMID:10700177 RGD:1598731 NCBI chr 7:28,893,248...28,962,351
Ensembl chr 7:28,893,248...28,962,340
JBrowse link
G Actr3 ARP3 actin-related protein 3 ISO DNA:missense mutation:cds:p.L111F (rat)
protein:increased expression:renal glomerulus (rat)
RGD PMID:18064521, PMID:27251563 RGD:2292230, RGD:11575049 NCBI chr 1:125,392,905...125,435,727
Ensembl chr 1:125,392,905...125,435,727
JBrowse link
G Agt angiotensinogen (serpin peptidase inhibitor, clade A, member 8) ISO CTD Direct Evidence: marker/mechanism CTD PMID:19858406, PMID:21357516 RGD:5129175 NCBI chr 8:124,556,587...124,569,706
Ensembl chr 8:124,556,534...124,569,706
JBrowse link
G Agtr1a angiotensin II receptor, type 1a ISO protein:increased expression:kidney cortex RGD PMID:21357516 RGD:5129175 NCBI chr13:30,336,356...30,382,867
Ensembl chr13:30,336,441...30,382,867
JBrowse link
G Agtr2 angiotensin II receptor, type 2 ISO protein:increased expression:kidney cortex RGD PMID:21357516 RGD:5129175 NCBI chr  X:21,484,624...21,488,833
Ensembl chr  X:21,484,544...21,489,164
JBrowse link
G Angpt2 angiopoietin 2 ISO mRNA, protein:increased expression:glomerulus (rat) RGD PMID:16628643 RGD:2314213 NCBI chr 8:18,690,263...18,741,562
Ensembl chr 8:18,690,263...18,741,562
JBrowse link
G Anln anillin, actin binding protein ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:22,331,214...22,389,211
Ensembl chr 9:22,332,012...22,389,188
JBrowse link
G Bdkrb1 bradykinin receptor, beta 1 IMP RGD PMID:21412216 RGD:7175321 NCBI chr12:105,604,091...105,605,511
Ensembl chr12:105,603,085...105,605,428
JBrowse link
G Casp9 caspase 9 treatment ISO RGD PMID:28245472 RGD:13782344 NCBI chr 4:141,793,612...141,815,978
Ensembl chr 4:141,793,612...141,815,976
JBrowse link
G Cat catalase IMP RGD PMID:22443450 RGD:7205647 NCBI chr 2:103,453,904...103,485,153
Ensembl chr 2:103,453,849...103,485,160
JBrowse link
G Ccl11 chemokine (C-C motif) ligand 11 treatment IDA RGD PMID:22427838 RGD:7247740 NCBI chr11:82,057,832...82,062,955
Ensembl chr11:82,057,823...82,062,955
JBrowse link
G Ccl3 chemokine (C-C motif) ligand 3 ISO RGD PMID:17684420 RGD:7241818 NCBI chr11:83,647,843...83,649,378
Ensembl chr11:83,647,844...83,649,355
JBrowse link
G Ccn2 cellular communication network factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17121042 NCBI chr10:24,595,442...24,598,683
Ensembl chr10:24,595,442...24,598,683
JBrowse link
G Cd2ap CD2-associated protein ISO FSGS3, OMIM:607832, DNA:splice-site mutaton
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
CTD
ClinVar
PMID:12764198 RGD:1600628 NCBI chr17:42,748,887...42,876,707
Ensembl chr17:42,792,951...42,876,665
JBrowse link
G Cfb complement factor B IMP RGD PMID:17522263 RGD:7242704 NCBI chr17:34,856,374...34,862,514
Ensembl chr17:34,856,374...34,862,518
JBrowse link
G Cmas cytidine monophospho-N-acetylneuraminic acid synthetase IEA MouseDO NCBI chr 6:142,756,686...142,775,714
Ensembl chr 6:142,756,686...142,775,714
JBrowse link
G Col4a1 collagen, type IV, alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16191423, PMID:18682491 NCBI chr 8:11,198,423...11,312,889
Ensembl chr 8:11,198,423...11,312,826
JBrowse link
G Crb2 crumbs family member 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:37,776,225...37,799,103
Ensembl chr 2:37,776,249...37,799,103
JBrowse link
G Edn1 endothelin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16191423 NCBI chr13:42,301,476...42,307,990
Ensembl chr13:42,301,476...42,307,990
JBrowse link
G Fn1 fibronectin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16191423 NCBI chr 1:71,585,473...71,653,280
Ensembl chr 1:71,585,520...71,653,200
JBrowse link
G Gnaq guanine nucleotide binding protein, alpha q polypeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:16267159 NCBI chr19:16,132,684...16,388,520
Ensembl chr19:16,132,831...16,387,463
JBrowse link
G Havcr1 hepatitis A virus cellular receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19225054 NCBI chr11:46,739,822...46,779,578
Ensembl chr11:46,735,080...46,779,578
JBrowse link
G Hspb1 heat shock protein 1 ISO protein:increased expression:glomerulus, podocyte: RGD PMID:21931298 RGD:10402764 NCBI chr 5:135,887,919...135,889,563
Ensembl chr 5:135,887,919...135,889,563
JBrowse link
G Il1b interleukin 1 beta IDA RGD PMID:21412216 RGD:7175321 NCBI chr 2:129,364,569...129,371,164
Ensembl chr 2:129,364,570...129,371,139
JBrowse link
G Inf2 inverted formin, FH2 and WH2 domain containing ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
CTD
ClinVar
PMID:20023659, PMID:25741868, PMID:26467025 NCBI chr12:112,588,744...112,615,557
Ensembl chr12:112,588,784...112,615,557
JBrowse link
G Itgb3 integrin beta 3 IGI RGD PMID:21804539 RGD:6907385 NCBI chr11:104,608,000...104,670,476
Ensembl chr11:104,608,000...104,670,476
JBrowse link
G Lamb2 laminin, beta 2 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar NCBI chr 9:108,479,847...108,490,530
Ensembl chr 9:108,479,736...108,490,530
JBrowse link
G Lipc lipase, hepatic ISO protein:reduced expression:serum (rat) RGD PMID:14531811 RGD:2308781 NCBI chr 9:70,798,128...70,952,221
Ensembl chr 9:70,798,128...70,952,226
JBrowse link
G Lpl lipoprotein lipase ISO RGD PMID:14531811 RGD:2308781 NCBI chr 8:68,880,555...68,906,932
Ensembl chr 8:68,880,491...68,907,448
JBrowse link
G Mir193a microRNA 193a IEA OMIM:607832 | OMIM:612551 MouseDO NCBI chr11:79,711,969...79,712,034
Ensembl chr11:79,711,969...79,712,034
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO mRNA, protein:increased expression, increased activity:kidney RGD PMID:19357873 RGD:2325738 NCBI chr 8:92,827,290...92,853,421
Ensembl chr 8:92,827,291...92,853,420
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO mRNA, protein:increased expression, increased activity:kidney RGD PMID:19357873 RGD:2325738 NCBI chr 2:164,940,326...164,955,850
Ensembl chr 2:164,940,780...164,955,850
JBrowse link
G Mpv17 MpV17 mitochondrial inner membrane protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18818194 NCBI chr 5:31,140,663...31,154,251
Ensembl chr 5:31,140,654...31,154,251
JBrowse link
G mt-Ty tRNA tyrosine, mitochondrial ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis and dilated cardiomyopathy ClinVar PMID:14598342, PMID:31965079 NCBI chr MT:5,260...5,326
Ensembl chr MT:5,260...5,326
JBrowse link
G Myh10 myosin, heavy polypeptide 10, non-muscle ISO CTD Direct Evidence: marker/mechanism CTD PMID:9678433 NCBI chr11:68,691,915...68,816,626
Ensembl chr11:68,691,559...68,816,632
JBrowse link
G Myh9 myosin, heavy polypeptide 9, non-muscle IMP
ISO
CTD Direct Evidence: marker/mechanism CTD PMID:18794856, PMID:21402784 RGD:6903254 NCBI chr15:77,760,585...77,842,175
Ensembl chr15:77,760,587...77,842,175
JBrowse link
G Myo1e myosin IE ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:70,207,350...70,400,067
Ensembl chr 9:70,207,350...70,399,766
JBrowse link
G Nos2 nitric oxide synthase 2, inducible ISO CTD Direct Evidence: marker/mechanism CTD PMID:16191423 NCBI chr11:78,920,787...78,960,226
Ensembl chr11:78,920,787...78,960,254
JBrowse link
G Nphs1 nephrosis 1, nephrin disease_progression ISO mRNA:increased expression:urine (human) RGD PMID:21414970 RGD:38549367 NCBI chr 7:30,458,207...30,488,623
Ensembl chr 7:30,458,315...30,487,223
JBrowse link
G Nphs2 nephrosis 2, podocin ISO CTD Direct Evidence: marker/mechanism CTD PMID:15942677 NCBI chr 1:156,310,535...156,328,035
Ensembl chr 1:156,310,727...156,328,035
JBrowse link
G Nup93 nucleoporin 93 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar PMID:32581362 NCBI chr 8:94,214,564...94,328,100
Ensembl chr 8:94,214,564...94,317,227
JBrowse link
G Nxf2 nuclear RNA export factor 2 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar PMID:23686279 NCBI chr  X:134,944,526...134,964,754
Ensembl chr  X:134,944,526...134,964,754
JBrowse link
G Pax2 paired box 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr19:44,746,601...44,838,269
Ensembl chr19:44,756,045...44,837,871
JBrowse link
G Pcna proliferating cell nuclear antigen ISO CTD Direct Evidence: marker/mechanism CTD PMID:17121042 NCBI chr 2:132,249,286...132,253,180
Ensembl chr 2:132,249,162...132,253,314
JBrowse link
G Pias1 protein inhibitor of activated STAT 1 ISO RGD PMID:19350281 RGD:8693412 NCBI chr 9:62,878,366...62,980,879
Ensembl chr 9:62,878,368...62,987,924
JBrowse link
G Ppp3ca protein phosphatase 3, catalytic subunit, alpha isoform ISO RGD PMID:26436650 RGD:13515117 NCBI chr 3:136,669,714...136,937,727
Ensembl chr 3:136,670,124...136,937,727
JBrowse link
G Ppp3cb protein phosphatase 3, catalytic subunit, beta isoform ISO RGD PMID:26436650 RGD:13515117 NCBI chr14:20,499,364...20,546,573
Ensembl chr14:20,499,364...20,546,573
JBrowse link
G Rap1gap Rap1 GTPase-activating protein ISO mRNA:increased expression:renal glomerulus (human) RGD PMID:24642466 RGD:9835343 NCBI chr 4:137,664,711...137,729,861
Ensembl chr 4:137,664,726...137,729,861
JBrowse link
G Ren2 renin 2 tandem duplication of Ren1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27428043
G Serpine1 serine (or cysteine) peptidase inhibitor, clade E, member 1 treatment ISO CTD Direct Evidence: marker/mechanism CTD PMID:18682491, PMID:22303720 RGD:13208548 NCBI chr 5:137,061,504...137,072,272
Ensembl chr 5:137,061,504...137,072,268
JBrowse link
G Shh sonic hedgehog ISO RGD PMID:24744439 RGD:12859042 NCBI chr 5:28,456,840...28,467,101
Ensembl chr 5:28,456,815...28,467,256
JBrowse link
G Spp1 secreted phosphoprotein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9294829 NCBI chr 5:104,435,111...104,441,053
Ensembl chr 5:104,435,118...104,441,050
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16191423, PMID:18682491, PMID:20493835 NCBI chr 7:25,687,002...25,705,077
Ensembl chr 7:25,687,002...25,705,077
JBrowse link
G Tnf tumor necrosis factor IEP protein:increased expression:serum RGD PMID:21221075 RGD:7245511 NCBI chr17:35,199,367...35,202,007
Ensembl chr17:35,199,381...35,202,007
JBrowse link
G Tnfrsf1a tumor necrosis factor receptor superfamily, member 1a IEP protein:increased expression:serum RGD PMID:21221075 RGD:7245511 NCBI chr 6:125,349,723...125,362,483
Ensembl chr 6:125,349,362...125,362,484
JBrowse link
G Tnfrsf1b tumor necrosis factor receptor superfamily, member 1b IEP protein:increased expression:serum RGD PMID:21221075 RGD:7245511 NCBI chr 4:145,212,368...145,246,870
Ensembl chr 4:145,213,463...145,246,870
JBrowse link
G Trpc6 transient receptor potential cation channel, subfamily C, member 6 treatment ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:exon:p.P112Q (human)
DNA:nonsense mutation, missense mutations: :multiple
DNA:SNP:exon:p.P15S (human)
ClinVar
CTD
PMID:26892346, PMID:32581362, PMID:23385000, PMID:15879175, PMID:15924139, PMID:21839714, PMID:22980509 RGD:7247440, RGD:7247581, RGD:7247580, RGD:7247445, RGD:7247444 NCBI chr 9:8,543,867...8,680,752
Ensembl chr 9:8,544,142...8,680,741
JBrowse link
G Vldlr very low density lipoprotein receptor ISO protein:decreased expression:adipose tissue, skeletal muscle (rat) RGD PMID:11786096 RGD:2324671 NCBI chr19:27,216,480...27,254,231
Ensembl chr19:27,216,484...27,254,231
JBrowse link
G Vwf Von Willebrand factor ISO RGD PMID:22295953 RGD:7207031 NCBI chr 6:125,552,948...125,686,679
Ensembl chr 6:125,546,774...125,686,679
JBrowse link
G Wt1 Wilms tumor 1 homolog ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar PMID:25145932, PMID:25349199, PMID:25383892, PMID:25741868 NCBI chr 2:105,126,529...105,173,614
Ensembl chr 2:105,126,529...105,173,616
JBrowse link
G Zmpste24 zinc metallopeptidase, STE24 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17152860 NCBI chr 4:121,059,237...121,098,249
Ensembl chr 4:121,059,237...121,098,241
JBrowse link
focal segmental glomerulosclerosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 treatment ISO RGD PMID:8505110 RGD:12880006 NCBI chr11:105,967,948...105,989,964
Ensembl chr11:105,967,945...105,989,964
JBrowse link
G Actn4 actinin alpha 4 ISO
IEA
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 1
OMIM:603278
OMIM
ClinVar
MouseDO
PMID:10700177, PMID:16251236, PMID:22351778, PMID:25741868, PMID:26467025, PMID:26740551 NCBI chr 7:28,893,248...28,962,351
Ensembl chr 7:28,893,248...28,962,340
JBrowse link
G Arhgap24 Rho GTPase activating protein 24 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 1 ClinVar NCBI chr 5:102,207,198...102,905,035
Ensembl chr 5:102,481,391...102,897,937
JBrowse link
focal segmental glomerulosclerosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trpc6 transient receptor potential cation channel, subfamily C, member 6 ISO
IEA
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 2
OMIM:603965
ClinVar Annotator: match by OMIM:603965
OMIM
ClinVar
MouseDO
PMID:2298509, PMID:10200986, PMID:15879175, PMID:15924139, PMID:19380626, PMID:19936226, PMID:22980509, PMID:23291369, PMID:25019165, PMID:25741868, PMID:26467025, PMID:26892346, PMID:28204945, PMID:28492532, PMID:30295827 NCBI chr 9:8,543,867...8,680,752
Ensembl chr 9:8,544,142...8,680,741
JBrowse link
Focal Segmental Glomerulosclerosis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd2ap CD2-associated protein ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 3
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 3, susceptibility to
OMIM
ClinVar
PMID:17713465, PMID:22971997, PMID:25741868, PMID:28492532 NCBI chr17:42,748,887...42,876,707
Ensembl chr17:42,792,951...42,876,665
JBrowse link
focal segmental glomerulosclerosis 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Inf2 inverted formin, FH2 and WH2 domain containing ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5
ClinVar Annotator: match by OMIM:613237
OMIM
ClinVar
PMID:6054293, PMID:20023659, PMID:20803156, PMID:21258034, PMID:21866090, PMID:22187985, PMID:22961558, PMID:23349334, PMID:23515051, PMID:24174593, PMID:25165188, PMID:25407002, PMID:25676889, PMID:25741868, PMID:25741869, PMID:26248470, PMID:26467025, PMID:26764407, PMID:27350175, PMID:28492532, PMID:28780565, PMID:29653220, PMID:30126379, PMID:30311386, PMID:30373780 NCBI chr12:112,588,744...112,615,557
Ensembl chr12:112,588,784...112,615,557
JBrowse link
focal segmental glomerulosclerosis 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo1e myosin IE ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 6
ClinVar Annotator: match by OMIM:614131
OMIM
ClinVar
PMID:21756023 NCBI chr 9:70,207,350...70,400,067
Ensembl chr 9:70,207,350...70,399,766
JBrowse link
focal segmental glomerulosclerosis 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pax2 paired box 2 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 7 ClinVar
OMIM
PMID:3377002, PMID:8589702, PMID:9106533, PMID:11093271, PMID:11241473, PMID:22213154, PMID:24429398, PMID:24676634, PMID:25741868, PMID:27226968, PMID:28492532, PMID:30311386 NCBI chr19:44,746,601...44,838,269
Ensembl chr19:44,756,045...44,837,871
JBrowse link
focal segmental glomerulosclerosis 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Anln anillin, actin binding protein ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 8 ClinVar
OMIM
PMID:24676636, PMID:25741868, PMID:28492532 NCBI chr 9:22,331,214...22,389,211
Ensembl chr 9:22,332,012...22,389,188
JBrowse link
focal segmental glomerulosclerosis 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crb2 crumbs family member 2 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 9 ClinVar
OMIM
PMID:25557779, PMID:28492532, PMID:32581362 NCBI chr 2:37,776,225...37,799,103
Ensembl chr 2:37,776,249...37,799,103
JBrowse link
nephrotic syndrome type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Anxa5 annexin A5 ISO protein:increased expression:urine RGD PMID:17999093 RGD:7242031 NCBI chr 3:36,448,923...36,475,887
Ensembl chr 3:36,448,923...36,475,894
JBrowse link
G Avil advillin ISO ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:29058690 NCBI chr10:127,000,065...127,020,994
Ensembl chr10:127,000,709...127,020,994
JBrowse link
G Axdnd1 axonemal dynein light chain domain containing 1 ISO ClinVar Annotator: match by term: Nephrotic syndrome, idiopathic, steroid-resistant
ClinVar Annotator: match by term: Nephrotic syndrome, type 2, susceptibility to
ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome
ClinVar PMID:8589695, PMID:10742096, PMID:11805166, PMID:12464671, PMID:12707396, PMID:14675423, PMID:14978175, PMID:15015071, PMID:15253708, PMID:15327385, PMID:15496146, PMID:15769810, PMID:15817495, PMID:17371932, PMID:17899208, PMID:18216321, PMID:18443213, PMID:18823551, PMID:19145239, PMID:19406966, PMID:20507940, PMID:20798252, PMID:20947785, PMID:21171529, PMID:21355056, PMID:21415313, PMID:22565185, PMID:22578956, PMID:23242530, PMID:23515051, PMID:23595123, PMID:23645318, PMID:24033266, PMID:24227627, PMID:24509478, PMID:24742477, PMID:24856380, PMID:25349199, PMID:25525159, PMID:25741868, PMID:26413278, PMID:26420286, PMID:26467025, PMID:26594346, PMID:26668027, PMID:28492532, PMID:28658201, PMID:29660491, PMID:30260545, PMID:32581362 NCBI chr 1:156,330,415...156,421,176
Ensembl chr 1:156,323,509...156,421,159
JBrowse link
G Col4a3 collagen, type IV, alpha 3 ISO ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:25741868 NCBI chr 1:82,586,921...82,722,059
Ensembl chr 1:82,586,921...82,722,059
JBrowse link
G Col4a4 collagen, type IV, alpha 4 ISO ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:25741868 NCBI chr 1:82,448,419...82,587,034
Ensembl chr 1:82,448,423...82,586,849
JBrowse link
G Col4a5 collagen, type IV, alpha 5 ISO ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:32581362 NCBI chr  X:141,475,370...141,689,236
Ensembl chr  X:141,475,385...141,689,234
JBrowse link
G Crb2 crumbs family member 2 ISO ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:25557779, PMID:32581362 NCBI chr 2:37,776,225...37,799,103
Ensembl chr 2:37,776,249...37,799,103
JBrowse link
G Nphs2 nephrosis 2, podocin ISO ClinVar Annotator: match by term: Nephrotic syndrome, idiopathic, steroid-resistant
ClinVar Annotator: match by term: Nephrotic syndrome, type 2, susceptibility to
ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome
ClinVar Annotator: match by OMIM:600995
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:8589695, PMID:8606597, PMID:10742096, PMID:11729243, PMID:11733557, PMID:11805166, PMID:11805168, PMID:11854170, PMID:12464671, PMID:12608558, PMID:12644922, PMID:12649741, PMID:12707396, PMID:12776285, PMID:14570703, PMID:14675423, PMID:14701729, PMID:14871423, PMID:14978175, PMID:15015071, PMID:15042551, PMID:15059485, PMID:15253708, PMID:15322893, PMID:15327385, PMID:15338398, PMID:15496146, PMID:15504144, PMID:15627790, PMID:15769810, PMID:15780077, PMID:15817495, PMID:15954915, PMID:15968559, PMID:16286890, PMID:16481888, PMID:16721582, PMID:16810518, PMID:16898497, PMID:16900088, PMID:16968734, PMID:17109732, PMID:17216259, PMID:17218332, PMID:17371932, PMID:17635752, PMID:17699384, PMID:17899208, PMID:17942774, PMID:17942957, PMID:18216321, PMID:18392643, PMID:18443213, PMID:18481113, PMID:18499321, PMID:18543005, PMID:18596732, PMID:18683072, PMID:18726620, PMID:18823551, PMID:19067903, PMID:19145239, PMID:19268410, PMID:19371226, PMID:19406966, PMID:19520069, PMID:19674119, PMID:19812541, PMID:20001346, PMID:20025681, PMID:20333530, PMID:20507940, PMID:20798252, PMID:20947785, PMID:21125408, PMID:21171529, PMID:21355056, PMID:21415313, PMID:21636722, PMID:21722858, PMID:22228437, PMID:22565185, PMID:22578956, PMID:23013956, PMID:23242530, PMID:23349334, PMID:23515051, PMID:23595123, PMID:23645318, PMID:23800802, PMID:24033266, PMID:24072147, PMID:24089165, PMID:24227627, PMID:24500309, PMID:24509478, PMID:24511133, PMID:24519673, PMID:24715228, PMID:24742477, PMID:24856380, PMID:24969201, PMID:25349199, PMID:25525159, PMID:25599733, PMID:25741868, PMID:25852895, PMID:25903641, PMID:26138234, PMID:26211502, PMID:26248470, PMID:26413278, PMID:26420286, PMID:26467025, PMID:26467726, PMID:26594346, PMID:26668027, PMID:26820844, PMID:27766458, PMID:27885584, PMID:28117080, PMID:28204945, PMID:28385484, PMID:28492532, PMID:28529802, PMID:28658201, PMID:28712774, PMID:29049388, PMID:29382718, PMID:29660491, PMID:30241959, PMID:30260545, PMID:30655312, PMID:32581362 NCBI chr 1:156,310,535...156,328,035
Ensembl chr 1:156,310,727...156,328,035
JBrowse link
G Nr3c1 nuclear receptor subfamily 3, group C, member 1 ISO mRNA:alternative form:blood, mononuclear cell RGD PMID:20419394 RGD:7174729 NCBI chr18:39,410,545...39,519,421
Ensembl chr18:39,410,545...39,519,421
JBrowse link
G Nup205 nucleoporin 205 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26878725 NCBI chr 6:35,177,616...35,247,599
Ensembl chr 6:35,177,421...35,247,596
JBrowse link
G Nup93 nucleoporin 93 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26878725 NCBI chr 8:94,214,564...94,328,100
Ensembl chr 8:94,214,564...94,317,227
JBrowse link
G Pla2g7 phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma) disease_progression ISO RGD PMID:9853251 RGD:7248793 NCBI chr17:43,567,994...43,612,202
Ensembl chr17:43,568,098...43,612,201
JBrowse link
G Plce1 phospholipase C, epsilon 1 ISO DNA:mutations: : RGD PMID:20591883 RGD:7257521 NCBI chr19:38,481,034...38,785,105
Ensembl chr19:38,481,109...38,785,030
JBrowse link
G Trpc6 transient receptor potential cation channel, subfamily C, member 6 ISO DNA:missense mutations, SNPs:exon, intron:multiple RGD PMID:21511817 RGD:7247446 NCBI chr 9:8,543,867...8,680,752
Ensembl chr 9:8,544,142...8,680,741
JBrowse link
G Tsfm Ts translation elongation factor, mitochondrial ISO ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:29058690 NCBI chr10:127,022,332...127,030,814
Ensembl chr10:127,011,572...127,030,840
JBrowse link
G Wt1 Wilms tumor 1 homolog ISO ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:1302008, PMID:1327525, PMID:1338906, PMID:1655284, PMID:6307071, PMID:7795587, PMID:8295405, PMID:9090524, PMID:9529364, PMID:9607189, PMID:10470095, PMID:10505700, PMID:11182928, PMID:12970737, PMID:15150775, PMID:15509792, PMID:17496156, PMID:17541636, PMID:17853480, PMID:23497137, PMID:23715653, PMID:23935527, PMID:25501161, PMID:25818337, PMID:26069768, PMID:26467025, PMID:27013732, PMID:27899157, PMID:28204945, PMID:28492532, PMID:32581362 NCBI chr 2:105,126,529...105,173,614
Ensembl chr 2:105,126,529...105,173,616
JBrowse link
G Xpo5 exportin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26878725 NCBI chr17:46,202,811...46,243,598
Ensembl chr17:46,202,782...46,243,598
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13332
    Pathological Conditions, Signs and Symptoms 7939
      Pathologic Processes 5889
        Fibrosis 1375
          renal fibrosis 124
            glomerulosclerosis 89
              focal segmental glomerulosclerosis + 77
Path 2
Term Annotations click to browse term
  disease 13332
    disease of anatomical entity 12813
      Urogenital Diseases 3818
        urinary system disease 1763
          kidney disease 1554
            nephritis 359
              glomerulonephritis 312
                glomerulosclerosis 89
                  focal segmental glomerulosclerosis + 77
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.