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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 glomerulonephritis that is characterized by hardening of the glomerulus in the kidney. (DO)


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 treatment IMP RGD PMID:21718676 RGD:12879389 NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131 		JBrowse link
G Ager advanced glycosylation end product-specific receptor treatment ISO associated with Diabetic Nephropathies RGD PMID:23046363 PMID:20554645 RGD:7243247, RGD:7244139 NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078 		JBrowse link
G Agtr1a angiotensin II receptor, type 1a IEP mRNA:decreased expression:kidney RGD PMID:12495295 RGD:6903859 NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946 		JBrowse link
G Agtr2 angiotensin II receptor, type 2 IMP
ISO
IEP		 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:112,119,876...112,124,060
Ensembl chr  X:112,120,228...112,124,057 		JBrowse link
G Apoe apolipoprotein E IEP
IDA		 protein:increased expression:renal glomerulus (rat) RGD PMID:22207560 PMID:21907828 RGD:6903199, RGD:6903285 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932 		JBrowse link
G Col3a1 collagen type III alpha 1 chain IEP RGD PMID:20610530 RGD:7257557 NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547 		JBrowse link
G Esr2 estrogen receptor 2 susceptibility ISO protein:decreased expression:renal glomerulus (mouse) RGD PMID:12000739 RGD:7364801 NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919 		JBrowse link
G Fbn1 fibrillin 1 ISO associated with Hypertension RGD PMID:16380460 RGD:7365080 NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889 		JBrowse link
G Hbegf heparin-binding EGF-like growth factor induced ISO RGD PMID:16107576 RGD:1556472 NCBI chr18:28,106,284...28,116,167
Ensembl chr18:28,105,760...28,116,441 		JBrowse link
G Il1b interleukin 1 beta IDA associated with Hypertension RGD PMID:19948880 RGD:7175503 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415 		JBrowse link
G Mmp1 matrix metallopeptidase 1 IDA
IEP		 associated with Hyperhomocysteinemia
protein:decreased expression:kidney (rat)		 RGD PMID:20406136 PMID:21275176 RGD:7207203, RGD:7207363 NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097 		JBrowse link
G Mmp9 matrix metallopeptidase 9 IDA
IEP		 associated with Hyperhomocysteinemia
associated with Obesity;mRNA:decreased expression:glomerulus		 RGD PMID:20406136 PMID:9300240 RGD:7207203, RGD:8547929 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Nphs1 NPHS1 adhesion molecule, nephrin treatment ISO RGD PMID:22125642 RGD:40902998 NCBI chr 1:85,720,812...85,749,079
Ensembl chr 1:85,720,812...85,749,078 		JBrowse link
G Pla2g7 phospholipase A2 group VII ISO RGD PMID:16213192 RGD:7248790 NCBI chr 9:17,362,214...17,404,476
Ensembl chr 9:17,362,225...17,404,476 		JBrowse link
G Plekha7 pleckstrin homology domain containing A7 ameliorates IMP compared to wild type RGD PMID:25136115 PMID:25136115 RGD:11079199, RGD:11079199 NCBI chr 1:170,364,524...170,547,843
Ensembl chr 1:170,365,135...170,547,775 		JBrowse link
G Plekha7em4Mcwi pleckstrin homology domain containing, family A member 7; zinc finger nuclease induced mutant 4, Medical College of Wisconsin ameliorates IMP compared to wild type RGD PMID:25136115 PMID:25136115 RGD:11079199, RGD:11079199
G Pparg peroxisome proliferator-activated receptor gamma treatment IDA RGD PMID:11318962 RGD:8553043 NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468 		JBrowse link
G Rgs2 regulator of G-protein signaling 2 susceptibility IEP associated with Hypertension RGD PMID:26606876 RGD:13524570 NCBI chr13:55,799,749...55,802,354
Ensembl chr13:55,798,829...55,802,385 		JBrowse link
G Rnls renalase, FAD-dependent amine oxidase IEP RGD PMID:24022426 RGD:7327155 NCBI chr 1:231,037,481...231,309,855
Ensembl chr 1:231,037,486...231,309,823 		JBrowse link
G Serpine1 serpin family E member 1 treatment IDA
IEP		 mRNA, protein:increased expression:kidney (rat) RGD PMID:26999660 PMID:27129290 RGD:11073618, RGD:11073688 NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657 		JBrowse link
G Shc1 SHC adaptor protein 1 ameliorates IMP RGD PMID:27270176 RGD:12792230 NCBI chr 2:174,837,937...174,849,538
Ensembl chr 2:174,837,930...174,849,536 		JBrowse link
G Shc1em4Mcwi SHC adaptor protein 1; ZFN induced mutant 4, Medical College of Wisconsin ameliorates IMP RGD PMID:27270176 RGD:12792230
G Slc2a1 solute carrier family 2 member 1 ISO RGD PMID:19918242 RGD:12879501 NCBI chr 5:132,717,196...132,745,416
Ensembl chr 5:132,717,196...132,745,416 		JBrowse link
G Spp1 secreted phosphoprotein 1 IEP RGD PMID:12675855 RGD:6903837 NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162 		JBrowse link
G Synpo synaptopodin treatment ISO RGD PMID:22125642 RGD:40902998 NCBI chr18:54,048,299...54,106,388
Ensembl chr18:54,026,152...54,102,126 		JBrowse link
G Tnfrsf1b TNF receptor superfamily member 1B ISO associated with Hypertension RGD PMID:23389459 RGD:7245475 NCBI chr 5:157,070,642...157,104,216
Ensembl chr 5:157,070,642...157,104,206 		JBrowse link
focal segmental glomerulosclerosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace2 angiotensin converting enzyme 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16723697 NCBI chr  X:30,293,597...30,340,961
Ensembl chr  X:30,293,589...30,340,977 		JBrowse link
G Acta2 actin alpha 2, smooth muscle ISO CTD Direct Evidence: marker/mechanism CTD PMID:20493835 NCBI chr 1:231,746,527...231,759,307
Ensembl chr 1:231,746,548...231,759,554 		JBrowse link
G Actn4 actinin alpha 4 susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal		 CTD
ClinVar
RGD		 PMID:16251236 PMID:18594871 PMID:19142020 PMID:19956976 PMID:21680739 More... RGD:1598731 NCBI chr 1:84,182,783...84,251,867
Ensembl chr 1:84,182,788...84,251,847 		JBrowse link
G Actr3 actin related protein 3 IAGP
IEP		 DNA:missense mutation:cds:p.L111F (rat)
protein:increased expression:renal glomerulus (rat)		 RGD PMID:18064521 PMID:27251563 RGD:2292230, RGD:11575049 NCBI chr13:36,800,739...36,843,837
Ensembl chr13:36,800,093...36,844,124 		JBrowse link
G Agt angiotensinogen IEP
ISO		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:19858406 PMID:21357516 RGD:5129175 NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977 		JBrowse link
G Agtr1a angiotensin II receptor, type 1a IEP protein:increased expression:kidney cortex RGD PMID:21357516 RGD:5129175 NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946 		JBrowse link
G Agtr2 angiotensin II receptor, type 2 IEP protein:increased expression:kidney cortex RGD PMID:21357516 RGD:5129175 NCBI chr  X:112,119,876...112,124,060
Ensembl chr  X:112,120,228...112,124,057 		JBrowse link
G Angpt2 angiopoietin 2 IEP mRNA, protein:increased expression:glomerulus (rat) RGD PMID:16628643 RGD:2314213 NCBI chr16:71,088,364...71,138,805
Ensembl chr16:71,088,364...71,138,804 		JBrowse link
G Anln anillin, actin binding protein ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:20,858,227...20,921,602
Ensembl chr 8:20,858,228...20,921,538 		JBrowse link
G Arhgap24 Rho GTPase activating protein 24 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar NCBI chr14:6,800,624...7,183,877
Ensembl chr14:6,800,631...7,183,823 		JBrowse link
G Axdnd1 axonemal dynein light chain domain containing 1 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal ClinVar PMID:8589695 PMID:10742096 PMID:11805166 PMID:15253708 PMID:15327385 More... NCBI chr13:68,471,957...68,544,788
Ensembl chr13:68,458,411...68,544,172 		JBrowse link
G Bdkrb1 bradykinin receptor B1 ISO RGD PMID:21412216 RGD:7175321 NCBI chr 6:124,510,827...124,514,475
Ensembl chr 6:124,510,870...124,513,747 		JBrowse link
G C2 complement C2 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar PMID:2249879 PMID:6308626 PMID:8181962 PMID:16518403 PMID:16936732 More... NCBI chr20:3,951,474...3,970,376
Ensembl chr20:3,951,474...3,976,505 		JBrowse link
G C3 complement C3 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar PMID:1976733 PMID:7870343 PMID:16687714 PMID:17634448 PMID:17767156 More... NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429 		JBrowse link
G Casp9 caspase 9 treatment IEP RGD PMID:28245472 RGD:13782344 NCBI chr 5:154,108,872...154,126,628
Ensembl chr 5:154,109,046...154,126,626 		JBrowse link
G Cat catalase ISO RGD PMID:22443450 RGD:7205647 NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478 		JBrowse link
G Ccl11 C-C motif chemokine ligand 11 treatment ISO RGD PMID:22427838 RGD:7247740 NCBI chr10:67,028,328...67,032,929
Ensembl chr10:67,028,328...67,032,926 		JBrowse link
G Ccl3 C-C motif chemokine ligand 3 ISO RGD PMID:17684420 RGD:7241818 NCBI chr10:68,451,388...68,452,938
Ensembl chr10:68,451,388...68,452,938 		JBrowse link
G Ccn2 cellular communication network factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17121042 NCBI chr 1:20,802,199...20,805,315
Ensembl chr 1:20,802,199...20,805,734 		JBrowse link
G Cd2ap CD2-associated protein ISO FSGS3, OMIM:607832, DNA:splice-site mutaton
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:25741868 PMID:28492532 PMID:12764198 RGD:1600628 NCBI chr 9:18,086,744...18,182,744
Ensembl chr 9:18,086,984...18,182,199 		JBrowse link
G Cfb complement factor B ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar
RGD		 PMID:2249879 PMID:6308626 PMID:8181962 PMID:16518403 PMID:16936732 More... RGD:7242704 NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505 		JBrowse link
G Cfh complement factor H ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar PMID:8072530 PMID:15870199 PMID:16299065 PMID:17089378 PMID:17947292 More... NCBI chr13:51,512,376...51,613,829
Ensembl chr13:51,511,828...51,613,838 		JBrowse link
G Cfi complement factor I ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar PMID:18825487 PMID:25741868 PMID:28492532 NCBI chr 2:218,389,079...218,430,565
Ensembl chr 2:218,387,990...218,430,561 		JBrowse link
G Cmas cytidine monophosphate N-acetylneuraminic acid synthetase ISS MouseDO NCBI chr 4:175,718,808...175,737,128
Ensembl chr 4:175,718,808...175,737,125 		JBrowse link
G Col4a1 collagen type IV alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:16191423 PMID:18682491 NCBI chr16:78,183,533...78,294,412
Ensembl chr16:78,183,533...78,294,412 		JBrowse link
G Col4a3 collagen type IV alpha 3 chain ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar PMID:14871398 PMID:17216251 PMID:18385178 PMID:24033266 PMID:24854265 More... NCBI chr 9:83,875,849...84,004,955
Ensembl chr 9:83,875,561...84,001,895 		JBrowse link
G Col4a4 collagen type IV alpha 4 chain ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar PMID:12028435 PMID:15618242 PMID:17396119 PMID:19129241 PMID:20029656 More... NCBI chr 9:83,833,173...83,875,436
Ensembl chr 9:83,755,515...83,875,876 		JBrowse link
G Col4a5 collagen type IV alpha 5 chain ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar PMID:8648925 PMID:9195222 PMID:10561141 PMID:10752524 PMID:14514738 More... NCBI chr  X:105,118,762...105,322,699
Ensembl chr  X:105,118,820...105,322,692 		JBrowse link
G Coq2 coenzyme Q2, polyprenyltransferase ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr14:8,941,429...8,961,418
Ensembl chr14:8,941,461...8,960,891 		JBrowse link
G Coq8b coenzyme Q8B ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar PMID:25741868 PMID:32543055 NCBI chr 1:82,525,578...82,549,182
Ensembl chr 1:82,526,568...82,549,180 		JBrowse link
G Crb2 crumbs cell polarity complex component 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:21,542,138...21,564,876
Ensembl chr 3:21,542,221...21,563,294 		JBrowse link
G Edn1 endothelin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16191423 NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885 		JBrowse link
G Eya1 EYA transcriptional coactivator and phosphatase 1 ISO ClinVar Annotator: match by term: Glomerulosclerosis, focal ClinVar PMID:10991693 PMID:24033266 PMID:25741868 PMID:31049720 NCBI chr 5:4,863,501...5,101,483
Ensembl chr 5:4,955,543...5,101,483 		JBrowse link
G Fn1 fibronectin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16191423 NCBI chr 9:73,196,044...73,264,695
Ensembl chr 9:73,196,044...73,264,678 		JBrowse link
G Gnaq G protein subunit alpha q ISO CTD Direct Evidence: marker/mechanism CTD PMID:16267159 NCBI chr 1:213,425,631...213,671,947
Ensembl chr 1:213,424,465...213,667,672 		JBrowse link
G Havcr1 hepatitis A virus cellular receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19225054 NCBI chr10:31,118,667...31,151,730
Ensembl chr10:31,119,088...31,151,698 		JBrowse link
G Hr HR, lysine demethylase and nuclear receptor corepressor IMP RGD PMID:21325752 RGD:150520024 NCBI chr15:45,626,835...45,646,313
Ensembl chr15:45,626,835...45,646,313 		JBrowse link
G Hspb1 heat shock protein family B (small) member 1 ISO protein:increased expression:glomerulus, podocyte: RGD PMID:21931298 RGD:10402764 NCBI chr12:20,794,014...20,795,675
Ensembl chr12:20,794,028...20,795,743 		JBrowse link
G Il1b interleukin 1 beta ISO RGD PMID:21412216 RGD:7175321 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415 		JBrowse link
G Inf2 inverted formin 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal		 CTD
ClinVar		 PMID:20023659 PMID:21866090 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr 6:131,649,162...131,675,944
Ensembl chr 6:131,649,211...131,675,941 		JBrowse link
G Itgb3 integrin subunit beta 3 ISO RGD PMID:21804539 RGD:6907385 NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679 		JBrowse link
G Kirrel2 kirre like nephrin family adhesion molecule 2 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal ClinVar PMID:19406966 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:85,708,793...85,718,670
Ensembl chr 1:85,708,793...85,718,670 		JBrowse link
G Lamb2 laminin subunit beta 2 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal ClinVar PMID:20556798 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 8:109,178,367...109,190,552
Ensembl chr 8:109,178,409...109,190,549 		JBrowse link
G Lipc lipase C, hepatic type IAGP protein:reduced expression:serum (rat) RGD PMID:14531811 RGD:2308781 NCBI chr 8:71,509,633...71,635,663
Ensembl chr 8:71,509,635...71,635,464 		JBrowse link
G Lmx1b LIM homeobox transcription factor 1 beta ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:16,862,195...16,940,899
Ensembl chr 3:16,862,195...16,940,899 		JBrowse link
G Lpl lipoprotein lipase IEP RGD PMID:14531811 RGD:2308781 NCBI chr16:20,830,055...20,853,855
Ensembl chr16:20,829,465...20,855,249 		JBrowse link
G Mir193a microRNA 193a ISS MouseDO NCBI chr10:64,672,343...64,672,454
Ensembl chr10:64,672,343...64,672,454 		JBrowse link
G Mmp2 matrix metallopeptidase 2 IEP mRNA, protein:increased expression, increased activity:kidney RGD PMID:19357873 RGD:2325738 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870 		JBrowse link
G Mmp9 matrix metallopeptidase 9 IEP mRNA, protein:increased expression, increased activity:kidney RGD PMID:19357873 RGD:2325738 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Mpv17 mitochondrial inner membrane protein MPV17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18818194 NCBI chr 6:25,221,668...25,236,241
Ensembl chr 6:25,222,896...25,236,244 		JBrowse link
G Myh10 myosin heavy chain 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9678433 NCBI chr10:53,393,901...53,525,174
Ensembl chr10:53,394,389...53,525,165 		JBrowse link
G Myh9 myosin, heavy chain 9 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis		 CTD
ClinVar
RGD		 PMID:18794856 PMID:19557653 PMID:23144074 PMID:24033266 PMID:25741868 More... RGD:6903254 NCBI chr 7:109,343,718...109,424,457
Ensembl chr 7:109,343,706...109,424,457 		JBrowse link
G Myo1e myosin IE ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:70,887,934...71,080,180
Ensembl chr 8:70,887,870...71,080,169 		JBrowse link
G Myo9a myosin IXA ISS
ISO		 ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal MouseDO
ClinVar		 PMID:25741868 PMID:33412162 NCBI chr 8:60,149,234...60,352,330
Ensembl chr 8:60,149,234...60,350,514 		JBrowse link
G Nlrp3 NLR family, pyrin domain containing 3 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar PMID:17509468 PMID:18263599 PMID:18311798 PMID:19319132 PMID:20182451 More... NCBI chr10:44,326,770...44,353,814
Ensembl chr10:44,328,566...44,352,811 		JBrowse link
G Noc3l NOC3-like DNA replication regulator ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar PMID:25741868 NCBI chr 1:236,556,037...236,585,372
Ensembl chr 1:236,556,789...236,585,318 		JBrowse link
G Nos2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16191423 NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210 		JBrowse link
G Nphp1 nephrocystin 1 ISO ClinVar Annotator: match by term: Glomerulosclerosis, focal ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:114,960,650...115,016,234
Ensembl chr 3:114,960,650...115,016,234 		JBrowse link
G Nphp3 nephrocystin 3 ISO ClinVar Annotator: match by term: Glomerulosclerosis, focal ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:104,621,908...104,662,383
Ensembl chr 8:104,621,864...104,662,383 		JBrowse link
G Nphp4 nephrocystin 4 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:162,986,157...163,073,708
Ensembl chr 5:162,988,370...163,073,706 		JBrowse link
G Nphs1 NPHS1 adhesion molecule, nephrin disease_progression ISO mRNA:increased expression:urine (human)
protein:decreased expression:kidney,renal glomerulus (human)		 RGD PMID:21414970 PMID:30900988 RGD:38549367, RGD:15023481 NCBI chr 1:85,720,812...85,749,079
Ensembl chr 1:85,720,812...85,749,078 		JBrowse link
G Nphs2 NPHS2 stomatin family member, podocin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal		 CTD
ClinVar		 PMID:1523708 PMID:8589695 PMID:10742096 PMID:11805166 PMID:11805168 More... NCBI chr13:68,448,720...68,461,312
Ensembl chr13:68,448,926...68,461,313 		JBrowse link
G Nup93 nucleoporin 93 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar PMID:32581362 NCBI chr19:10,684,214...10,788,009
Ensembl chr19:10,682,075...10,788,026 		JBrowse link
G Nxf7 nuclear RNA export factor 7 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar PMID:23686279 NCBI chr  X:98,535,374...98,552,562
Ensembl chr  X:98,535,375...98,552,526 		JBrowse link
G Pax2 paired box 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal		 CTD
ClinVar		 PMID:3377002 PMID:8589702 PMID:9106533 PMID:11093271 PMID:11241473 More... NCBI chr 1:243,616,509...243,697,454
Ensembl chr 1:243,616,606...243,695,321 		JBrowse link
G Pcna proliferating cell nuclear antigen ISO CTD Direct Evidence: marker/mechanism CTD PMID:17121042 NCBI chr 3:119,499,039...119,502,911
Ensembl chr 3:119,498,810...119,502,995 		JBrowse link
G Pdss2 decaprenyl diphosphate synthase subunit 2 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar PMID:25741868 PMID:28492532 NCBI chr20:46,709,631...46,938,704
Ensembl chr20:46,709,649...46,938,708 		JBrowse link
G Pias1 protein inhibitor of activated STAT, 1 IEP RGD PMID:19350281 RGD:8693412 NCBI chr 8:63,338,150...63,451,670
Ensembl chr 8:63,338,150...63,438,905 		JBrowse link
G Plce1 phospholipase C, epsilon 1 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal ClinVar PMID:18975016 PMID:20507940 PMID:25060053 PMID:25741868 PMID:26467025 More... NCBI chr 1:236,243,445...236,552,571
Ensembl chr 1:236,244,683...236,551,438 		JBrowse link
G Ppp3ca protein phosphatase 3 catalytic subunit alpha ISO RGD PMID:26436650 RGD:13515117 NCBI chr 2:225,165,981...225,440,978
Ensembl chr 2:225,165,766...225,438,974 		JBrowse link
G Ppp3cb protein phosphatase 3 catalytic subunit beta ISO RGD PMID:26436650 RGD:13515117 NCBI chr15:3,759,950...3,804,976
Ensembl chr15:3,760,030...3,804,981 		JBrowse link
G Rap1gap Rap1 GTPase-activating protein ISO mRNA:increased expression:renal glomerulus (human) RGD PMID:24642466 RGD:9835343 NCBI chr 5:149,873,987...149,939,254
Ensembl chr 5:149,892,019...149,939,253 		JBrowse link
G Reg1a regenerating family member 1 alpha ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar PMID:25741868 NCBI chr 4:110,892,451...110,895,115
Ensembl chr 4:110,892,453...110,895,570 		JBrowse link
G Rpgrip1l Rpgrip1-like ISO ClinVar Annotator: match by term: Glomerulosclerosis, focal ClinVar PMID:19430481 PMID:20301500 PMID:25741868 PMID:28492532 NCBI chr19:15,692,189...15,785,083
Ensembl chr19:15,692,150...15,785,083 		JBrowse link
G Scarb2 scavenger receptor class B, member 2 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal ClinVar PMID:25088547 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr14:15,558,271...15,609,813
Ensembl chr14:15,558,236...15,609,813 		JBrowse link
G Sdccag8 SHH signaling and ciliogenesis regulator SDCCAG8 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal ClinVar PMID:25741868 NCBI chr13:88,754,521...88,979,363
Ensembl chr13:88,754,626...89,097,111 		JBrowse link
G Serpine1 serpin family E member 1 treatment ISO
IEP		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:18682491 PMID:22303720 RGD:13208548 NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657 		JBrowse link
G Shh sonic hedgehog signaling molecule ISO RGD PMID:24744439 RGD:12859042 NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170 		JBrowse link
G Slc17a5 solute carrier family 17 member 5 ISO ClinVar Annotator: match by term: Glomerulosclerosis, focal ClinVar PMID:25741868 PMID:28492532 PMID:29140481 NCBI chr 8:79,394,416...79,429,387 JBrowse link
G Smarcal1 Swi/SNF related matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal ClinVar PMID:11799392 PMID:15880370 PMID:16840568 PMID:17089404 PMID:18805831 More... NCBI chr 9:74,239,718...74,286,156
Ensembl chr 9:74,240,241...74,286,146 		JBrowse link
G Spp1 secreted phosphoprotein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9294829 NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162 		JBrowse link
G Srgap1 SLIT-ROBO Rho GTPase activating protein 1 ISS MouseDO NCBI chr 7:57,329,532...57,594,681
Ensembl chr 7:57,329,532...57,596,196 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16191423 PMID:18682491 PMID:20493835 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847 		JBrowse link
G Tmem63c transmembrane protein 63c ISO protein:decreased expression:kidney,renal glomerulus (human) RGD PMID:30900988 RGD:15023481 NCBI chr 6:106,667,389...106,738,778
Ensembl chr 6:106,672,934...106,736,990 		JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:serum RGD PMID:21221075 RGD:7245511 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Tnfaip2 TNF alpha induced protein 2 ISS MouseDO NCBI chr 6:130,476,832...130,489,914
Ensembl chr 6:130,476,889...130,489,914 		JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO protein:increased expression:serum RGD PMID:21221075 RGD:7245511 NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591 		JBrowse link
G Tnfrsf1b TNF receptor superfamily member 1B ISO protein:increased expression:serum RGD PMID:21221075 RGD:7245511 NCBI chr 5:157,070,642...157,104,216
Ensembl chr 5:157,070,642...157,104,206 		JBrowse link
G Trpc6 transient receptor potential cation channel, subfamily C, member 6 treatment IDA
ISO		 DNA:SNP:exon:p.P15S (human)
DNA:nonsense mutation, missense mutations: :multiple
DNA:missense mutation:exon:p.P112Q (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal		 CTD
ClinVar
RGD		 PMID:19936226 PMID:22980509 PMID:25019165 PMID:25741868 PMID:26467025 More... RGD:7247440, RGD:7247444, RGD:7247445, RGD:7247580, RGD:7247581 NCBI chr 8:5,759,387...5,864,000
Ensembl chr 8:5,758,935...5,828,092 		JBrowse link
G Vldlr very low density lipoprotein receptor IEP protein:decreased expression:adipose tissue, skeletal muscle (rat) RGD PMID:11786096 RGD:2324671 NCBI chr 1:224,813,539...224,850,400
Ensembl chr 1:224,814,377...224,845,920 		JBrowse link
G Vwf von Willebrand factor ISO RGD PMID:22295953 RGD:7207031 NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539 		JBrowse link
G Wt1 WT1 transcription factor ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar PMID:7795587 PMID:8388765 PMID:9108089 PMID:9531607 PMID:10571943 More... NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643 		JBrowse link
G Zmpste24 zinc metallopeptidase STE24 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17152860 NCBI chr 5:134,627,218...134,660,360
Ensembl chr 5:134,627,229...134,660,110 		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 treatment IMP RGD PMID:8505110 RGD:12880006 NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131 		JBrowse link
G Actn4 actinin alpha 4 ISO
ISS		 ClinVar Annotator: match by term: Focal sclerosis with hyalinosis | ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 1
OMIM:603278		 OMIM
ClinVar
MouseDO		 PMID:10700177 PMID:16251236 PMID:18594871 PMID:19142020 PMID:19956976 More... NCBI chr 1:84,182,783...84,251,867
Ensembl chr 1:84,182,788...84,251,847 		JBrowse link
G Arhgap24 Rho GTPase activating protein 24 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 1 ClinVar NCBI chr14:6,800,624...7,183,877
Ensembl chr14:6,800,631...7,183,823 		JBrowse link
G Axdnd1 axonemal dynein light chain domain containing 1 ISO ClinVar Annotator: match by term: Focal sclerosis with hyalinosis ClinVar PMID:8589695 PMID:10742096 PMID:11805166 PMID:15253708 PMID:15327385 More... NCBI chr13:68,471,957...68,544,788
Ensembl chr13:68,458,411...68,544,172 		JBrowse link
G C2 complement C2 ISO ClinVar Annotator: match by term: Focal sclerosis with hyalinosis ClinVar PMID:2249879 PMID:6308626 PMID:8181962 PMID:16518403 PMID:16936732 More... NCBI chr20:3,951,474...3,970,376
Ensembl chr20:3,951,474...3,976,505 		JBrowse link
G C3 complement C3 ISO ClinVar Annotator: match by term: Focal sclerosis with hyalinosis ClinVar PMID:1976733 PMID:17634448 PMID:18325906 PMID:19168221 PMID:25741868 More... NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429 		JBrowse link
G Cd2ap CD2-associated protein ISO ClinVar Annotator: match by term: Focal sclerosis with hyalinosis ClinVar PMID:25741868 NCBI chr 9:18,086,744...18,182,744
Ensembl chr 9:18,086,984...18,182,199 		JBrowse link
G Cfb complement factor B ISO ClinVar Annotator: match by term: Focal sclerosis with hyalinosis ClinVar PMID:2249879 PMID:6308626 PMID:8181962 PMID:16518403 PMID:16936732 More... NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505 		JBrowse link
G Cfi complement factor I ISO ClinVar Annotator: match by term: Focal sclerosis with hyalinosis ClinVar PMID:18825487 PMID:25741868 PMID:28492532 NCBI chr 2:218,389,079...218,430,565
Ensembl chr 2:218,387,990...218,430,561 		JBrowse link
G Col4a4 collagen type IV alpha 4 chain ISO ClinVar Annotator: match by term: Focal sclerosis with hyalinosis ClinVar PMID:19129241 PMID:21196518 PMID:24052634 PMID:24522496 PMID:24854265 More... NCBI chr 9:83,833,173...83,875,436
Ensembl chr 9:83,755,515...83,875,876 		JBrowse link
G Eya1 EYA transcriptional coactivator and phosphatase 1 ISO ClinVar Annotator: match by term: Focal sclerosis with hyalinosis ClinVar PMID:10991693 PMID:24033266 PMID:25741868 PMID:31049720 NCBI chr 5:4,863,501...5,101,483
Ensembl chr 5:4,955,543...5,101,483 		JBrowse link
G Inf2 inverted formin 2 ISO ClinVar Annotator: match by term: Focal sclerosis with hyalinosis ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:131,649,162...131,675,944
Ensembl chr 6:131,649,211...131,675,941 		JBrowse link
G Kirrel2 kirre like nephrin family adhesion molecule 2 ISO ClinVar Annotator: match by term: Focal sclerosis with hyalinosis ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:85,708,793...85,718,670
Ensembl chr 1:85,708,793...85,718,670 		JBrowse link
G Lamb2 laminin subunit beta 2 ISO ClinVar Annotator: match by term: Focal sclerosis with hyalinosis ClinVar PMID:20556798 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 8:109,178,367...109,190,552
Ensembl chr 8:109,178,409...109,190,549 		JBrowse link
G Myh9 myosin, heavy chain 9 ISO ClinVar Annotator: match by term: Focal sclerosis with hyalinosis ClinVar PMID:19557653 PMID:23144074 PMID:24033266 PMID:25741868 PMID:26346198 More... NCBI chr 7:109,343,718...109,424,457
Ensembl chr 7:109,343,706...109,424,457 		JBrowse link
G Myo9a myosin IXA ISO ClinVar Annotator: match by term: Focal sclerosis with hyalinosis ClinVar PMID:25741868 PMID:33412162 NCBI chr 8:60,149,234...60,352,330
Ensembl chr 8:60,149,234...60,350,514 		JBrowse link
G Nlrp3 NLR family, pyrin domain containing 3 ISO ClinVar Annotator: match by term: Focal sclerosis with hyalinosis ClinVar PMID:17509468 PMID:18263599 PMID:18311798 PMID:19319132 PMID:20182451 More... NCBI chr10:44,326,770...44,353,814
Ensembl chr10:44,328,566...44,352,811 		JBrowse link
G Nphp1 nephrocystin 1 ISO ClinVar Annotator: match by term: Focal sclerosis with hyalinosis ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:114,960,650...115,016,234
Ensembl chr 3:114,960,650...115,016,234 		JBrowse link
G Nphp3 nephrocystin 3 ISO ClinVar Annotator: match by term: Focal sclerosis with hyalinosis ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:104,621,908...104,662,383
Ensembl chr 8:104,621,864...104,662,383 		JBrowse link
G Nphs2 NPHS2 stomatin family member, podocin ISO ClinVar Annotator: match by term: Focal sclerosis with hyalinosis ClinVar PMID:8589695 PMID:10742096 PMID:11805166 PMID:11854170 PMID:12464671 More... NCBI chr13:68,448,720...68,461,312
Ensembl chr13:68,448,926...68,461,313 		JBrowse link
G Nup107 nucleoporin 107 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 1 ClinVar NCBI chr 7:53,353,740...53,398,345
Ensembl chr 7:53,353,743...53,398,370 		JBrowse link
G Pax2 paired box 2 ISO ClinVar Annotator: match by term: Focal sclerosis with hyalinosis ClinVar PMID:3377002 PMID:8589702 PMID:9106533 PMID:11093271 PMID:11241473 More... NCBI chr 1:243,616,509...243,697,454
Ensembl chr 1:243,616,606...243,695,321 		JBrowse link
G Plce1 phospholipase C, epsilon 1 ISO ClinVar Annotator: match by term: Focal sclerosis with hyalinosis ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:236,243,445...236,552,571
Ensembl chr 1:236,244,683...236,551,438 		JBrowse link
G Rpgrip1l Rpgrip1-like ISO ClinVar Annotator: match by term: Focal sclerosis with hyalinosis ClinVar PMID:19430481 PMID:20301500 PMID:25741868 PMID:28492532 NCBI chr19:15,692,189...15,785,083
Ensembl chr19:15,692,150...15,785,083 		JBrowse link
G Scarb2 scavenger receptor class B, member 2 ISO ClinVar Annotator: match by term: Focal sclerosis with hyalinosis ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr14:15,558,271...15,609,813
Ensembl chr14:15,558,236...15,609,813 		JBrowse link
G Sdccag8 SHH signaling and ciliogenesis regulator SDCCAG8 ISO ClinVar Annotator: match by term: Focal sclerosis with hyalinosis ClinVar PMID:25741868 NCBI chr13:88,754,521...88,979,363
Ensembl chr13:88,754,626...89,097,111 		JBrowse link
G Slc17a5 solute carrier family 17 member 5 ISO ClinVar Annotator: match by term: Focal sclerosis with hyalinosis ClinVar PMID:25741868 PMID:28492532 PMID:29140481 NCBI chr 8:79,394,416...79,429,387 JBrowse link
G Smarcal1 Swi/SNF related matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 ISO ClinVar Annotator: match by term: Focal sclerosis with hyalinosis ClinVar PMID:11799392 PMID:15880370 PMID:16840568 PMID:17089404 PMID:18805831 More... NCBI chr 9:74,239,718...74,286,156
Ensembl chr 9:74,240,241...74,286,146 		JBrowse link
G Trpc6 transient receptor potential cation channel, subfamily C, member 6 ISO ClinVar Annotator: match by term: Focal sclerosis with hyalinosis ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:5,759,387...5,864,000
Ensembl chr 8:5,758,935...5,828,092 		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
ISS		 ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 2 | ClinVar Annotator: match by term: TRPC6-related condition
OMIM:603965
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:2298509 PMID:10200986 PMID:15879175 PMID:15924139 PMID:16932363 More... NCBI chr 8:5,759,387...5,864,000
Ensembl chr 8:5,758,935...5,828,092 		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
ISS		 ClinVar Annotator: match by term: CD2AP-related condition | ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 3, susceptibility to
OMIM:607832		 OMIM
ClinVar
MouseDO		 PMID:10514378 PMID:12764198 PMID:17713465 PMID:18443213 PMID:19131354 More... NCBI chr 9:18,086,744...18,182,744
Ensembl chr 9:18,086,984...18,182,199 		JBrowse link
focal segmental glomerulosclerosis 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adss1 adenylosuccinate synthase 1 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 ClinVar PMID:28492532 NCBI chr 6:131,679,795...131,702,012
Ensembl chr 6:131,679,701...131,701,998 		JBrowse link
G Ahnak2 AHNAK nucleoprotein 2 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 ClinVar PMID:28492532 NCBI chr 6:131,830,668...131,876,311 JBrowse link
G Akt1 AKT serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 ClinVar PMID:28492532 NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921 		JBrowse link
G Brf1 BRF1, RNA polymerase III transcription initiation factor subunit ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 ClinVar PMID:28492532 NCBI chr 6:132,034,378...132,081,313
Ensembl chr 6:132,037,272...132,081,278 		JBrowse link
G Btbd6 BTB domain containing 6 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 ClinVar PMID:28492532 NCBI chr 6:132,058,094...132,060,603
Ensembl chr 6:132,058,096...132,060,587 		JBrowse link
G Cdca4 cell division cycle associated 4 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 ClinVar PMID:28492532 NCBI chr 6:131,892,305...131,901,571
Ensembl chr 6:131,892,087...131,901,564 		JBrowse link
G Cep170b centrosomal protein 170B ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 ClinVar PMID:28492532 NCBI chr 6:131,780,935...131,806,658
Ensembl chr 6:131,778,957...131,806,658 		JBrowse link
G Clba1 clathrin binding box of aftiphilin containing 1 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 ClinVar PMID:28492532 NCBI chr 6:131,882,866...131,889,662
Ensembl chr 6:131,882,609...131,889,662 		JBrowse link
G Gpr132 G protein-coupled receptor 132 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 ClinVar PMID:28492532 NCBI chr 6:131,924,061...131,943,327
Ensembl chr 6:131,924,160...131,942,168 		JBrowse link
G Inf2 inverted formin 2 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 | ClinVar Annotator: match by term: INF2-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:6054293 PMID:9536098 PMID:16199547 PMID:17576681 PMID:20023659 More... NCBI chr 6:131,649,162...131,675,944
Ensembl chr 6:131,649,211...131,675,941 		JBrowse link
G Jag2 jagged canonical Notch ligand 2 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 ClinVar PMID:28492532 NCBI chr 6:131,983,059...132,005,665
Ensembl chr 6:131,983,056...132,005,818 		JBrowse link
G Nudt14 nudix hydrolase 14 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 ClinVar PMID:28492532 NCBI chr 6:132,010,309...132,017,298
Ensembl chr 6:132,010,297...132,017,298 		JBrowse link
G Pacs2 phosphofurin acidic cluster sorting protein 2 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 ClinVar PMID:28492532 NCBI chr 6:132,096,992...132,156,702
Ensembl chr 6:132,096,901...132,154,583 		JBrowse link
G Pld4 phospholipase D family, member 4 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 ClinVar PMID:28492532 NCBI chr 6:131,818,860...131,827,457
Ensembl chr 6:131,818,860...131,826,376 		JBrowse link
G Siva1 SIVA1, apoptosis-inducing factor ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 ClinVar PMID:28492532 NCBI chr 6:131,705,323...131,709,697
Ensembl chr 6:131,705,323...131,709,690 		JBrowse link
G Zbtb42 zinc finger and BTB domain containing 42 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 ClinVar PMID:28492532 NCBI chr 6:131,734,257...131,742,459
Ensembl chr 6:131,738,356...131,742,685 		JBrowse link
focal segmental glomerulosclerosis 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ldhal6b lactate dehydrogenase A-like 6B ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 6 ClinVar PMID:25741868 NCBI chr 1:45,997,845...45,999,268
Ensembl chr 1:45,991,991...45,999,272 		JBrowse link
G Myo1e myosin IE ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 6 | ClinVar Annotator: match by term: MYO1E-related condition OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:21756023 PMID:25741868 PMID:28492532 More... NCBI chr 8:70,887,934...71,080,180
Ensembl chr 8:70,887,870...71,080,169 		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 OMIM
ClinVar		 PMID:3377002 PMID:8589702 PMID:9106533 PMID:10466411 PMID:10533062 More... NCBI chr 1:243,616,509...243,697,454
Ensembl chr 1:243,616,606...243,695,321 		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: ANLN-related condition | ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 8 OMIM
ClinVar		 PMID:24676636 PMID:25741868 PMID:28492532 PMID:29869118 NCBI chr 8:20,858,227...20,921,602
Ensembl chr 8:20,858,228...20,921,538 		JBrowse link
G Synpo synaptopodin ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 8 ClinVar PMID:25741868 PMID:33615071 NCBI chr18:54,048,299...54,106,388
Ensembl chr18:54,026,152...54,102,126 		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 cell polarity complex component 2 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 9 OMIM
ClinVar		 PMID:25557779 PMID:25741868 PMID:27004616 PMID:27942854 PMID:28492532 More... NCBI chr 3:21,542,138...21,564,876
Ensembl chr 3:21,542,221...21,563,294 		JBrowse link
Focal Segmental Glomerulosclerosis and Neurodevelopmental Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trim8 tripartite motif-containing 8 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis and neurodevelopmental syndrome | ClinVar Annotator: match by term: TRIM8-related condition OMIM
ClinVar		 PMID:25741868 PMID:27346735 PMID:28492532 PMID:29758562 PMID:30244534 More... NCBI chr 1:245,369,632...245,384,513
Ensembl chr 1:245,369,632...245,384,513 		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 2:119,314,007...119,344,703
Ensembl chr 2:119,314,007...119,353,369 		JBrowse link
G Avil advillin ISO ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:25741868 PMID:29058690 NCBI chr 7:62,825,459...62,844,103
Ensembl chr 7:62,826,025...62,844,071 		JBrowse link
G Axdnd1 axonemal dynein light chain domain containing 1 ISO ClinVar Annotator: match by term: Nephrotic syndrome, type 2 | ClinVar Annotator: match by term: Nephrotic syndrome, type 2, susceptibility to | ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:8589695 PMID:9536098 PMID:10742096 PMID:11805166 PMID:12464671 More... NCBI chr13:68,471,957...68,544,788
Ensembl chr13:68,458,411...68,544,172 		JBrowse link
G Col4a3 collagen type IV alpha 3 chain ISO ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:25741868 NCBI chr 9:83,875,849...84,004,955
Ensembl chr 9:83,875,561...84,001,895 		JBrowse link
G Col4a4 collagen type IV alpha 4 chain ISO ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:83,833,173...83,875,436
Ensembl chr 9:83,755,515...83,875,876 		JBrowse link
G Col4a5 collagen type IV alpha 5 chain ISO ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:32581362 NCBI chr  X:105,118,762...105,322,699
Ensembl chr  X:105,118,820...105,322,692 		JBrowse link
G Crb2 crumbs cell polarity complex component 2 ISO ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:25557779 PMID:25741868 PMID:27004616 PMID:27942854 PMID:28492532 More... NCBI chr 3:21,542,138...21,564,876
Ensembl chr 3:21,542,221...21,563,294 		JBrowse link
G Nphs2 NPHS2 stomatin family member, podocin ISO ClinVar Annotator: match by term: NPHS2-related condition | ClinVar Annotator: match by term: Nephrotic syndrome, type 2 | ClinVar Annotator: match by term: Nephrotic syndrome, type 2, susceptibility to | ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1523708 PMID:8589695 PMID:8606597 PMID:9536098 PMID:10742096 More... NCBI chr13:68,448,720...68,461,312
Ensembl chr13:68,448,926...68,461,313 		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 chr18:31,271,681...31,393,320
Ensembl chr18:31,271,681...31,393,375 		JBrowse link
G Nup205 nucleoporin 205 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26878725 NCBI chr 4:63,854,934...63,920,852
Ensembl chr 4:63,854,783...63,920,844 		JBrowse link
G Nup93 nucleoporin 93 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26878725 NCBI chr19:10,684,214...10,788,009
Ensembl chr19:10,682,075...10,788,026 		JBrowse link
G Pax2 paired box 2 ISO ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:3377002 PMID:8589702 PMID:9106533 PMID:11093271 PMID:11241473 More... NCBI chr 1:243,616,509...243,697,454
Ensembl chr 1:243,616,606...243,695,321 		JBrowse link
G Pla2g7 phospholipase A2 group VII disease_progression ISO RGD PMID:9853251 RGD:7248793 NCBI chr 9:17,362,214...17,404,476
Ensembl chr 9:17,362,225...17,404,476 		JBrowse link
G Plce1 phospholipase C, epsilon 1 ISO DNA:mutations: : RGD PMID:20591883 RGD:7257521 NCBI chr 1:236,243,445...236,552,571
Ensembl chr 1:236,244,683...236,551,438 		JBrowse link
G Smarcal1 Swi/SNF related matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 ISO ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:11799392 PMID:15880370 PMID:16840568 PMID:17089404 PMID:18805831 More... NCBI chr 9:74,239,718...74,286,156
Ensembl chr 9:74,240,241...74,286,146 		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 8:5,759,387...5,864,000
Ensembl chr 8:5,758,935...5,828,092 		JBrowse link
G Tsfm Ts translation elongation factor, mitochondrial ISO ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:25741868 PMID:29058690 NCBI chr 7:62,828,997...62,864,784
Ensembl chr 7:62,845,488...62,864,769 		JBrowse link
G Wt1 WT1 transcription factor ISO ClinVar Annotator: match by term: Familial idiopathic steroid-resistant nephrotic syndrome | ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:1302008 PMID:1327525 PMID:1338906 PMID:1655284 PMID:1658787 More... NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643 		JBrowse link
G Xpo5 exportin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26878725 NCBI chr 9:14,740,182...14,778,171
Ensembl chr 9:14,740,182...14,778,171 		JBrowse link
Salcedo Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmx1b LIM homeobox transcription factor 1 beta ISO ClinVar Annotator: match by term: Focal Segmental Glomerulosclerosis 10 | ClinVar Annotator: match by term: Nail-patella-like renal disease OMIM
ClinVar		 PMID:23687361 PMID:24042019 PMID:25741868 PMID:26560070 PMID:28059119 More... NCBI chr 3:16,862,195...16,940,899
Ensembl chr 3:16,862,195...16,940,899 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19050
    Pathological Conditions, Signs and Symptoms 13532
      Pathologic Processes 8240
        Fibrosis 1585
          renal fibrosis 236
            glomerulosclerosis 186
              focal segmental glomerulosclerosis + 149
Path 2
Term Annotations click to browse term
  disease 19050
    disease of anatomical entity 18384
      Urogenital Diseases 5275
        urinary system disease 2830
          kidney disease 2579
            nephritis 488
              glomerulonephritis 427
                glomerulosclerosis 186
                  focal segmental glomerulosclerosis + 149
paths to the root