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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)
For additional species annotation, visit the Alliance of Genome Resources.

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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 Ager advanced glycosylation end-product specific receptor treatment ISO associated with Diabetic Nephropathies RGD PMID:20554645 PMID:23046363 RGD:7243247 RGD:7244139 NCBI chrNW_004955437:645,482...648,607
Ensembl chrNW_004955437:645,897...648,479 		JBrowse link
G Agtr1 angiotensin II receptor type 1 ISO mRNA:decreased expression:kidney RGD PMID:12495295 RGD:6903859 NCBI chrNW_004955474:8,733,942...8,781,305
Ensembl chrNW_004955474:8,733,942...8,781,255 		JBrowse link
G Agtr2 angiotensin II receptor type 2 ISO mRNA:increased expression:kidney
associated with Kidney Failure, Chronic		 RGD PMID:12495295 PMID:20042458 PMID:20631980 RGD:6903284 RGD:6903859 RGD:6903882 NCBI chrNW_004955534:3,653,112...3,654,248
Ensembl chrNW_004955534:3,653,157...3,654,248 		JBrowse link
G Apoe apolipoprotein E ISO protein:increased expression:renal glomerulus (rat) RGD PMID:21907828 PMID:22207560 RGD:6903199 RGD:6903285 NCBI chrNW_004955555:1,998,170...2,002,003
Ensembl chrNW_004955555:1,999,711...2,001,888 		JBrowse link
G Col3a1 collagen type III alpha 1 chain ISO RGD PMID:20610530 RGD:7257557 NCBI chrNW_004955403:9,720,831...9,758,019
Ensembl chrNW_004955403:9,721,114...9,757,887 		JBrowse link
G Esr2 estrogen receptor 2 susceptibility ISO protein:decreased expression:renal glomerulus (mouse) RGD PMID:12000739 RGD:7364801 NCBI chrNW_004955466:5,587,003...5,644,765
Ensembl chrNW_004955466:5,575,088...5,638,946 		JBrowse link
G Fbn1 fibrillin 1 ISO associated with Hypertension RGD PMID:16380460 RGD:7365080 NCBI chrNW_004955409:5,281,603...5,502,547
Ensembl chrNW_004955409:5,281,603...5,504,761 		JBrowse link
G Hbegf heparin binding EGF like growth factor induced ISO RGD PMID:16107576 RGD:1556472 NCBI chrNW_004955418:259,860...321,340
Ensembl chrNW_004955418:309,096...321,387 		JBrowse link
G Il1b interleukin 1 beta ISO associated with Hypertension RGD PMID:19948880 RGD:7175503 NCBI chrNW_004955470:1,486,936...1,491,888
Ensembl chrNW_004955470:1,486,967...1,491,947 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO associated with Obesity;mRNA:decreased expression:glomerulus
associated with Hyperhomocysteinemia		 RGD PMID:9300240 PMID:20406136 RGD:7207203 RGD:8547929 NCBI chrNW_004955445:11,295,500...11,303,322
Ensembl chrNW_004955445:11,295,448...11,303,288 		JBrowse link
G Nphs1 NPHS1 adhesion molecule, nephrin treatment ISO RGD PMID:22125642 RGD:40902998 NCBI chrNW_004955468:2,715,728...2,734,174
Ensembl chrNW_004955468:2,714,419...2,734,830 		JBrowse link
G Pla2g7 phospholipase A2 group VII ISO RGD PMID:16213192 RGD:7248790 NCBI chrNW_004955437:11,534,251...11,577,942
Ensembl chrNW_004955437:11,534,173...11,555,996 		JBrowse link
G Plekha7 pleckstrin homology domain containing A7 ameliorates ISO compared to wild type RGD PMID:25136115 RGD:11079199 NCBI chrNW_004955414:31,655,391...31,784,009
Ensembl chrNW_004955414:31,655,391...31,784,002 		JBrowse link
G Pparg peroxisome proliferator activated receptor gamma treatment ISO RGD PMID:11318962 RGD:8553043 NCBI chrNW_004955429:14,814,690...14,936,869
Ensembl chrNW_004955429:14,873,908...14,937,387 		JBrowse link
G Rgs2 regulator of G protein signaling 2 susceptibility ISO associated with Hypertension RGD PMID:26606876 RGD:13524570 NCBI chrNW_004955406:30,261,757...30,265,389
Ensembl chrNW_004955406:30,261,757...30,266,005 		JBrowse link
G Rnls renalase, FAD dependent amine oxidase ISO RGD PMID:24022426 RGD:7327155 NCBI chrNW_004955425:4,368,620...4,667,947 JBrowse link
G Serpine1 serpin family E member 1 treatment ISO mRNA, protein:increased expression:kidney (rat) RGD PMID:26999660 PMID:27129290 RGD:11073618 RGD:11073688 NCBI chrNW_004955456:16,147,523...16,157,040
Ensembl chrNW_004955456:16,145,944...16,157,142 		JBrowse link
G Shc1 SHC adaptor protein 1 ameliorates ISO RGD PMID:27270176 RGD:12792230 NCBI chrNW_004955545:1,468,391...1,479,209
Ensembl chrNW_004955545:1,468,391...1,476,814 		JBrowse link
G Slc2a1 solute carrier family 2 member 1 ISO RGD PMID:19918242 RGD:12879501 NCBI chrNW_004955537:2,408,042...2,438,788
Ensembl chrNW_004955537:2,408,042...2,439,511 		JBrowse link
G Spp1 secreted phosphoprotein 1 ISO RGD PMID:12675855 RGD:6903837 NCBI chrNW_004955474:1,914,477...1,922,025
Ensembl chrNW_004955474:1,913,829...1,922,016 		JBrowse link
G Synpo synaptopodin treatment ISO RGD PMID:22125642 RGD:40902998 NCBI chrNW_004955415:3,929,781...3,977,769
Ensembl chrNW_004955415:3,932,192...3,990,022 		JBrowse link
G Tnfrsf1b TNF receptor superfamily member 1B ISO associated with Hypertension RGD PMID:23389459 RGD:7245475 NCBI chrNW_004955486:1,790,531...1,817,986
Ensembl chrNW_004955486:1,792,115...1,818,362 		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 chrNW_004955519:2,591,229...2,643,705
Ensembl chrNW_004955519:2,591,248...2,633,495 		JBrowse link
G Acta2 actin alpha 2, smooth muscle ISO CTD Direct Evidence: marker/mechanism CTD PMID:20493835 NCBI chrNW_004955425:4,023,001...4,039,980
Ensembl chrNW_004955425:4,026,430...4,040,747 		JBrowse link
G Actn4 actinin alpha 4 susceptibility ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal RGD
ClinVar		 PMID:10700177 PMID:16251236 PMID:18594871 PMID:19142020 PMID:19956976 More... RGD:1598731 NCBI chrNW_004955468:770,573...841,859
Ensembl chrNW_004955468:770,573...842,209 		JBrowse link
G Actr3 actin related protein 3 ISO protein:increased expression:renal glomerulus (rat)
DNA:missense mutation:cds:p.L111F (rat)		 RGD PMID:18064521 PMID:27251563 RGD:11575049 RGD:2292230 NCBI chrNW_004955459:15,216,914...15,284,013
Ensembl chrNW_004955459:15,216,914...15,284,013 		JBrowse link
G Agt angiotensinogen ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:19858406 PMID:21357516 RGD:5129175 NCBI chrNW_004955492:7,863,662...7,874,863
Ensembl chrNW_004955492:7,866,833...7,873,357 		JBrowse link
G Agtr1 angiotensin II receptor type 1 ISO protein:increased expression:kidney cortex RGD PMID:21357516 RGD:5129175 NCBI chrNW_004955474:8,733,942...8,781,305
Ensembl chrNW_004955474:8,733,942...8,781,255 		JBrowse link
G Agtr2 angiotensin II receptor type 2 ISO protein:increased expression:kidney cortex RGD PMID:21357516 RGD:5129175 NCBI chrNW_004955534:3,653,112...3,654,248
Ensembl chrNW_004955534:3,653,157...3,654,248 		JBrowse link
G Angpt2 angiopoietin 2 ISO mRNA, protein:increased expression:glomerulus (rat) RGD PMID:16628643 RGD:2314213 NCBI chrNW_004955403:54,139,823...54,193,740
Ensembl chrNW_004955403:54,139,823...54,195,032 		JBrowse link
G Anln anillin actin binding protein ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955460:6,972,077...7,033,900
Ensembl chrNW_004955460:6,947,508...7,033,669 		JBrowse link
G Arhgap24 Rho GTPase activating protein 24 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar NCBI chrNW_004955474:3,786,264...4,224,778
Ensembl chrNW_004955474:3,786,264...4,224,778 		JBrowse link
G Atr ATR serine/threonine kinase ISO ClinVar Annotator: match by term: Hyalinosis, Segmental Glomerular ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:30976395 NCBI chrNW_004955508:3,337,036...3,440,313
Ensembl chrNW_004955508:3,337,432...3,440,257 		JBrowse link
G Axdnd1 axonemal dynein light chain domain containing 1 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar PMID:8589695 PMID:10742096 PMID:11805166 PMID:15253708 PMID:15327385 More... NCBI chrNW_004955406:18,717,383...18,859,263
Ensembl chrNW_004955406:18,717,820...18,858,905 		JBrowse link
G Bdkrb1 bradykinin receptor B1 ISO RGD PMID:21412216 RGD:7175321 NCBI chrNW_004955438:16,500,219...16,505,394
Ensembl chrNW_004955438:16,500,633...16,501,691 		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 chrNW_004955437:449,171...460,898
Ensembl chrNW_004955437:448,672...460,519 		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 chrNW_004955495:2,796,601...2,824,233
Ensembl chrNW_004955495:2,796,663...2,824,697 		JBrowse link
G Casp9 caspase 9 treatment ISO RGD PMID:28245472 RGD:13782344 NCBI chrNW_004955527:2,613,691...2,630,217
Ensembl chrNW_004955527:2,613,683...2,629,738 		JBrowse link
G Cat catalase ISO RGD PMID:22443450 RGD:7205647 NCBI chrNW_004955422:11,783,973...11,826,970
Ensembl chrNW_004955422:11,781,835...11,827,464 		JBrowse link
G Ccn2 cellular communication network factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17121042 NCBI chrNW_004955436:12,523,602...12,526,986
Ensembl chrNW_004955436:12,522,944...12,526,480 		JBrowse link
G Cd2ap CD2 associated protein ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955437:12,005,399...12,087,014
Ensembl chrNW_004955437:11,983,311...12,091,100 		JBrowse link
G Cfb complement factor B ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar PMID:2249879 PMID:6308626 PMID:8181962 PMID:16518403 PMID:16936732 More... NCBI chrNW_004955437:461,235...466,908
Ensembl chrNW_004955437:461,235...470,464 		JBrowse link
G Cfi complement factor I ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar PMID:18825487 PMID:25741868 PMID:28492532 NCBI chrNW_004955496:492,217...553,398
Ensembl chrNW_004955496:492,167...553,217 		JBrowse link
G Cmas cytidine monophosphate N-acetylneuraminic acid synthetase ISO MouseDO NCBI chrNW_004955413:17,575,469...17,596,379
Ensembl chrNW_004955413:17,575,469...17,599,859 		JBrowse link
G Col4a1 collagen type IV alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:16191423 PMID:18682491 NCBI chrNW_004955404:2,196,193...2,327,324
Ensembl chrNW_004955404:2,260,029...2,326,074 		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 chrNW_004955453:7,261,278...7,351,414 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 chrNW_004955453:7,405,167...7,524,038
Ensembl chrNW_004955453:7,420,203...7,520,200 		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 chrNW_004955490:7,168,725...7,409,655
Ensembl chrNW_004955490:7,168,676...7,409,887 		JBrowse link
G Coq2 coenzyme Q2, polyprenyltransferase ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004955474:6,403,409...6,422,135 JBrowse link
G Coq8b coenzyme Q8B ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar NCBI chrNW_004955578:615,820...635,488
Ensembl chrNW_004955578:615,381...635,488 		JBrowse link
G Crb2 crumbs cell polarity complex component 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955419:4,604,883...4,626,675
Ensembl chrNW_004955419:4,607,507...4,626,608 		JBrowse link
G Edn1 endothelin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16191423 NCBI chrNW_004955465:2,287,906...2,314,945
Ensembl chrNW_004955465:2,287,798...2,314,753 		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 chrNW_004955444:8,336,071...8,655,041
Ensembl chrNW_004955444:8,495,530...8,655,100 		JBrowse link
G Fn1 fibronectin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16191423 NCBI chrNW_004955457:629,599...694,948
Ensembl chrNW_004955457:629,518...696,975 		JBrowse link
G Gnaq G protein subunit alpha q ISO CTD Direct Evidence: marker/mechanism CTD PMID:16267159 NCBI chrNW_004955512:1,381,159...1,658,409 JBrowse link
G Havcr1 hepatitis A virus cellular receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19225054 NCBI chrNW_004955408:11,047,679...11,070,492 JBrowse link
G Hr HR lysine demethylase and nuclear receptor corepressor ISO RGD PMID:21325752 RGD:150520024 NCBI chrNW_004955403:45,605,870...45,624,386
Ensembl chrNW_004955403:45,605,510...45,624,402 		JBrowse link
G Hspb1 heat shock protein family B (small) member 1 ISO protein:increased expression:glomerulus, podocyte: RGD PMID:21931298 RGD:10402764 NCBI chrNW_004955844:8,094...9,565
Ensembl chrNW_004955844:7,790...10,004 		JBrowse link
G Il1b interleukin 1 beta ISO RGD PMID:21412216 RGD:7175321 NCBI chrNW_004955470:1,486,936...1,491,888
Ensembl chrNW_004955470:1,486,967...1,491,947 		JBrowse link
G Inf2 inverted formin 2 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar PMID:21866090 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30655312 More... NCBI chrNW_004955538:3,154,670...3,176,510
Ensembl chrNW_004955538:3,163,940...3,178,832 		JBrowse link
G Itgb3 integrin subunit beta 3 ISO RGD PMID:21804539 RGD:6907385 NCBI chrNW_004955478:9,788,192...9,830,254
Ensembl chrNW_004955478:9,788,149...9,823,746 		JBrowse link
G Kirrel2 kirre like nephrin family adhesion molecule 2 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar PMID:19406966 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004955468:2,705,131...2,712,921
Ensembl chrNW_004955468:2,705,554...2,712,711 		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 chrNW_004955532:1,115,412...1,127,264
Ensembl chrNW_004955532:1,115,087...1,127,455 		JBrowse link
G Lipc lipase C, hepatic type ISO protein:reduced expression:serum (rat) RGD PMID:14531811 RGD:2308781 NCBI chrNW_004955450:15,947,869...16,062,449
Ensembl chrNW_004955450:15,948,187...16,048,766 		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 chrNW_004955419:1,782,566...1,857,375
Ensembl chrNW_004955419:1,782,566...1,857,375 		JBrowse link
G Lpl lipoprotein lipase ISO RGD PMID:14531811 RGD:2308781 NCBI chrNW_004955403:43,646,084...43,672,116
Ensembl chrNW_004955403:43,646,084...43,673,967 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO mRNA, protein:increased expression, increased activity:kidney RGD PMID:19357873 RGD:2325738 NCBI chrNW_004955433:13,024,844...13,050,041
Ensembl chrNW_004955433:13,024,418...13,052,775 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO mRNA, protein:increased expression, increased activity:kidney RGD PMID:19357873 RGD:2325738 NCBI chrNW_004955445:11,295,500...11,303,322
Ensembl chrNW_004955445:11,295,448...11,303,288 		JBrowse link
G Mpv17 mitochondrial inner membrane protein MPV17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18818194 NCBI chrNW_004955469:9,279,540...9,292,012
Ensembl chrNW_004955469:9,279,540...9,291,954 		JBrowse link
G Myh10 myosin heavy chain 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9678433 NCBI chrNW_004955467:8,298,514...8,427,459
Ensembl chrNW_004955467:8,298,527...8,427,459 		JBrowse link
G Myh9 myosin heavy chain 9 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar PMID:19557653 PMID:23144074 PMID:24033266 PMID:25741868 PMID:26346198 More... NCBI chrNW_004955413:22,881,759...22,972,182
Ensembl chrNW_004955413:22,881,045...22,972,450 		JBrowse link
G Myo1e myosin IE ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955450:15,421,843...15,551,680
Ensembl chrNW_004955450:15,456,580...15,551,584 		JBrowse link
G Myo9a myosin IXA ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar PMID:25741868 PMID:33412162 NCBI chrNW_004955450:5,049,797...5,256,934
Ensembl chrNW_004955450:5,049,864...5,252,721 		JBrowse link
G Nlrp3 NLR family pyrin domain containing 3 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar PMID:12522564 PMID:17509468 PMID:18263599 PMID:18311798 PMID:19319132 More... NCBI chrNW_004955581:597,952...616,903
Ensembl chrNW_004955581:597,667...617,410 		JBrowse link
G Noc3l NOC3 like DNA replication regulator ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar PMID:25741868 NCBI chrNW_004955507:827,994...858,941
Ensembl chrNW_004955507:828,157...859,655 		JBrowse link
G Nos2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16191423 NCBI chrNW_004955481:5,197,957...5,232,406
Ensembl chrNW_004955481:5,201,234...5,231,961 		JBrowse link
G Nphp1 nephrocystin 1 ISO ClinVar Annotator: match by term: Glomerulosclerosis, focal ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955470:3,261,455...3,305,989
Ensembl chrNW_004955470:3,260,557...3,307,797 		JBrowse link
G Nphp3 nephrocystin 3 ISO ClinVar Annotator: match by term: Glomerulosclerosis, focal ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955501:5,799,879...5,837,022
Ensembl chrNW_004955501:5,799,879...5,837,022 		JBrowse link
G Nphp4 nephrocystin 4 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955486:6,442,058...6,547,451
Ensembl chrNW_004955486:6,448,442...6,547,488 		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:15023481 RGD:38549367 NCBI chrNW_004955468:2,715,728...2,734,174
Ensembl chrNW_004955468:2,714,419...2,734,830 		JBrowse link
G Nphs2 NPHS2 stomatin family member, podocin ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar PMID:1523708 PMID:8589695 PMID:10742096 PMID:11805166 PMID:11805168 More... NCBI chrNW_004955406:18,862,054...18,885,214
Ensembl chrNW_004955406:18,863,446...18,885,279 		JBrowse link
G Nup93 nucleoporin 93 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar PMID:32581362 NCBI chrNW_004955433:14,408,079...14,533,292
Ensembl chrNW_004955433:14,407,962...14,535,500 		JBrowse link
G Pax2 paired box 2 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar PMID:3377002 PMID:8589702 PMID:9106533 PMID:11093271 PMID:11241473 More... NCBI chrNW_004955485:9,351,913...9,430,607
Ensembl chrNW_004955485:9,350,087...9,430,607 		JBrowse link
G Pcna proliferating cell nuclear antigen ISO CTD Direct Evidence: marker/mechanism CTD PMID:17121042 NCBI chrNW_004955415:15,744,601...15,748,910
Ensembl chrNW_004955415:15,744,601...15,749,673 		JBrowse link
G Pdss2 decaprenyl diphosphate synthase subunit 2 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955411:32,426,604...32,714,337
Ensembl chrNW_004955411:32,422,513...32,714,062 		JBrowse link
G Pias1 protein inhibitor of activated STAT 1 ISO RGD PMID:19350281 RGD:8693412 NCBI chrNW_004955450:7,896,741...7,991,045
Ensembl chrNW_004955450:7,896,741...7,991,027 		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 chrNW_004955507:555,570...825,568
Ensembl chrNW_004955507:555,499...825,568 		JBrowse link
G Ppp3ca protein phosphatase 3 catalytic subunit alpha ISO RGD PMID:26436650 RGD:13515117 NCBI chrNW_004955496:6,934,542...7,059,745
Ensembl chrNW_004955496:6,908,224...7,059,816 		JBrowse link
G Ppp3cb protein phosphatase 3 catalytic subunit beta ISO RGD PMID:26436650 RGD:13515117 NCBI chrNW_004955437:18,323,852...18,377,815
Ensembl chrNW_004955437:18,323,857...18,377,815 		JBrowse link
G Rap1gap RAP1 GTPase activating protein ISO mRNA:increased expression:renal glomerulus (human) RGD PMID:24642466 RGD:9835343 NCBI chrNW_004955452:1,886,557...1,950,942
Ensembl chrNW_004955452:1,886,557...1,933,977 		JBrowse link
G Rpgrip1l RPGRIP1 like ISO ClinVar Annotator: match by term: Glomerulosclerosis, focal ClinVar PMID:19430481 PMID:20301500 PMID:25741868 PMID:28492532 NCBI chrNW_004955433:11,321,504...11,423,981
Ensembl chrNW_004955433:11,322,590...11,424,569 		JBrowse link
G Scarb2 scavenger receptor class B member 2 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar PMID:25088547 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004955433:884,740...962,932
Ensembl chrNW_004955433:884,740...962,932 		JBrowse link
G Sdccag8 SHH signaling and ciliogenesis regulator SDCCAG8 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar PMID:25741868 NCBI chrNW_004955406:6,694,687...6,909,555
Ensembl chrNW_004955406:6,695,051...6,909,555 		JBrowse link
G Serpine1 serpin family E member 1 treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:18682491 PMID:22303720 RGD:13208548 NCBI chrNW_004955456:16,147,523...16,157,040
Ensembl chrNW_004955456:16,145,944...16,157,142 		JBrowse link
G Shh sonic hedgehog signaling molecule ISO RGD PMID:24744439 RGD:12859042 NCBI chrNW_004955491:8,647,133...8,657,381 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 chrNW_004955493:8,693,933...8,719,250
Ensembl chrNW_004955493:8,693,679...8,719,250 		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 PMID:25741868 PMID:28492532 NCBI chrNW_004955453:16,724,286...16,784,129
Ensembl chrNW_004955453:16,719,931...16,784,709 		JBrowse link
G Spp1 secreted phosphoprotein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9294829 NCBI chrNW_004955474:1,914,477...1,922,025
Ensembl chrNW_004955474:1,913,829...1,922,016 		JBrowse link
G Srgap1 SLIT-ROBO Rho GTPase activating protein 1 ISO MouseDO NCBI chrNW_004955458:10,842,745...10,991,500
Ensembl chrNW_004955458:10,841,896...10,991,500 		JBrowse link
G Tgfb1 transforming growth factor beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16191423 PMID:18682491 PMID:20493835 NCBI chrNW_004955555:274,405...288,441
Ensembl chrNW_004955555:270,652...288,441 		JBrowse link
G Tmem63c transmembrane protein 63C ISO protein:decreased expression:kidney,renal glomerulus (human) RGD PMID:30900988 RGD:15023481 NCBI chrNW_004955438:1,091,324...1,155,878
Ensembl chrNW_004955438:1,090,847...1,156,166 		JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:serum RGD PMID:21221075 RGD:7245511 NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700 		JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO protein:increased expression:serum RGD PMID:21221075 RGD:7245511 NCBI chrNW_004955413:3,982,670...3,996,320
Ensembl chrNW_004955413:3,981,400...3,996,021 		JBrowse link
G Tnfrsf1b TNF receptor superfamily member 1B ISO protein:increased expression:serum RGD PMID:21221075 RGD:7245511 NCBI chrNW_004955486:1,790,531...1,817,986
Ensembl chrNW_004955486:1,792,115...1,818,362 		JBrowse link
G Trpc6 transient receptor potential cation channel subfamily C member 6 treatment ISO DNA:SNP:exon:p.P15S (human)
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal		 RGD
ClinVar		 PMID:19936226 PMID:21839714 PMID:22980509 PMID:23385000 PMID:25019165 More... RGD:7247440 RGD:7247444 RGD:7247445 NCBI chrNW_004955412:4,905,039...5,019,678
Ensembl chrNW_004955412:4,906,650...4,950,525 		JBrowse link
G Vldlr very low density lipoprotein receptor ISO protein:decreased expression:adipose tissue, skeletal muscle (rat) RGD PMID:11786096 RGD:2324671 NCBI chrNW_004955434:7,013,092...7,050,103
Ensembl chrNW_004955434:7,013,092...7,050,103 		JBrowse link
G Vwf von Willebrand factor ISO RGD PMID:22295953 RGD:7207031 NCBI chrNW_004955413:3,672,470...3,825,588
Ensembl chrNW_004955413:3,672,470...3,819,571 		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 chrNW_004955476:10,464,688...10,504,473
Ensembl chrNW_004955476:10,464,616...10,504,473 		JBrowse link
G Zmpste24 zinc metallopeptidase STE24 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17152860 NCBI chrNW_004955537:82,724...134,609
Ensembl chrNW_004955537:81,920...134,609 		JBrowse link
focal segmental glomerulosclerosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actn4 actinin alpha 4 ISO ClinVar Annotator: match by term: Focal sclerosis with hyalinosis | ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 1 OMIM
ClinVar		 PMID:10700177 PMID:16251236 PMID:18594871 PMID:19142020 PMID:19956976 More... NCBI chrNW_004955468:770,573...841,859
Ensembl chrNW_004955468:770,573...842,209 		JBrowse link
G Arhgap24 Rho GTPase activating protein 24 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 1 ClinVar NCBI chrNW_004955474:3,786,264...4,224,778
Ensembl chrNW_004955474:3,786,264...4,224,778 		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 chrNW_004955437:449,171...460,898
Ensembl chrNW_004955437:448,672...460,519 		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 chrNW_004955495:2,796,601...2,824,233
Ensembl chrNW_004955495:2,796,663...2,824,697 		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 chrNW_004955437:461,235...466,908
Ensembl chrNW_004955437:461,235...470,464 		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 chrNW_004955496:492,217...553,398
Ensembl chrNW_004955496:492,167...553,217 		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 chrNW_004955444:8,336,071...8,655,041
Ensembl chrNW_004955444:8,495,530...8,655,100 		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 chrNW_004955532:1,115,412...1,127,264
Ensembl chrNW_004955532:1,115,087...1,127,455 		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 chrNW_004955413:22,881,759...22,972,182
Ensembl chrNW_004955413:22,881,045...22,972,450 		JBrowse link
G Nlrp3 NLR family pyrin domain containing 3 ISO ClinVar Annotator: match by term: Focal sclerosis with hyalinosis ClinVar PMID:12522564 PMID:17509468 PMID:18263599 PMID:18311798 PMID:19319132 More... NCBI chrNW_004955581:597,952...616,903
Ensembl chrNW_004955581:597,667...617,410 		JBrowse link
G Nphp1 nephrocystin 1 ISO ClinVar Annotator: match by term: Focal sclerosis with hyalinosis ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955470:3,261,455...3,305,989
Ensembl chrNW_004955470:3,260,557...3,307,797 		JBrowse link
G Nphp3 nephrocystin 3 ISO ClinVar Annotator: match by term: Focal sclerosis with hyalinosis ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955501:5,799,879...5,837,022
Ensembl chrNW_004955501:5,799,879...5,837,022 		JBrowse link
G Nup107 nucleoporin 107 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 1 ClinVar NCBI chrNW_004955458:15,148,773...15,201,717
Ensembl chrNW_004955458:15,149,054...15,201,635 		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 chrNW_004955485:9,351,913...9,430,607
Ensembl chrNW_004955485:9,350,087...9,430,607 		JBrowse link
G Plce1 phospholipase C epsilon 1 ISO ClinVar Annotator: match by term: Focal sclerosis with hyalinosis ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955507:555,570...825,568
Ensembl chrNW_004955507:555,499...825,568 		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 chrNW_004955433:11,321,504...11,423,981
Ensembl chrNW_004955433:11,322,590...11,424,569 		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 chrNW_004955493:8,693,933...8,719,250
Ensembl chrNW_004955493:8,693,679...8,719,250 		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 chrNW_004955412:4,905,039...5,019,678
Ensembl chrNW_004955412:4,906,650...4,950,525 		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 ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 2 OMIM
ClinVar		 PMID:2298509 PMID:10200986 PMID:15879175 PMID:15924139 PMID:16932363 More... NCBI chrNW_004955412:4,905,039...5,019,678
Ensembl chrNW_004955412:4,906,650...4,950,525 		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, susceptibility to OMIM
ClinVar		 PMID:10514378 PMID:17713465 PMID:18443213 PMID:19131354 PMID:22971997 More... NCBI chrNW_004955437:12,005,399...12,087,014
Ensembl chrNW_004955437:11,983,311...12,091,100 		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 chrNW_004955538:3,179,299...3,196,251
Ensembl chrNW_004955538:3,179,299...3,196,251 		JBrowse link
G Ahnak2 AHNAK nucleoprotein 2 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 ClinVar PMID:28492532 NCBI chrNW_004955538:3,305,664...3,315,094 JBrowse link
G Akt1 AKT serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 ClinVar PMID:28492532 NCBI chrNW_004955538:3,208,711...3,224,386
Ensembl chrNW_004955538:3,208,710...3,229,904 		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 chrNW_004955538:3,469,322...3,544,704
Ensembl chrNW_004955538:3,470,249...3,544,704 		JBrowse link
G Btbd6 BTB domain containing 6 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 ClinVar PMID:28492532 NCBI chrNW_004955538:3,494,950...3,496,888
Ensembl chrNW_004955538:3,494,946...3,500,783 		JBrowse link
G Cdca4 cell division cycle associated 4 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 ClinVar PMID:28492532 NCBI chrNW_004955538:3,345,116...3,356,463
Ensembl chrNW_004955538:3,344,543...3,356,463 		JBrowse link
G Cep170b centrosomal protein 170B ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 ClinVar PMID:28492532 NCBI chrNW_004955538:3,261,900...3,283,274
Ensembl chrNW_004955538:3,261,882...3,283,433 		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 chrNW_004955538:3,325,052...3,340,534
Ensembl chrNW_004955538:3,333,957...3,341,256 		JBrowse link
G Gpr132 G protein-coupled receptor 132 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 ClinVar PMID:28492532 NCBI chrNW_004955538:3,366,333...3,382,778 JBrowse link
G Inf2 inverted formin 2 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 OMIM
ClinVar		 PMID:6054293 PMID:9536098 PMID:17576681 PMID:20023659 PMID:20803156 More... NCBI chrNW_004955538:3,154,670...3,176,510
Ensembl chrNW_004955538:3,163,940...3,178,832 		JBrowse link
G Jag2 jagged canonical Notch ligand 2 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 ClinVar PMID:28492532 NCBI chrNW_004955538:3,421,685...3,433,829
Ensembl chrNW_004955538:3,421,685...3,433,842 		JBrowse link
G Nudt14 nudix hydrolase 14 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 ClinVar PMID:28492532 NCBI chrNW_004955538:3,444,498...3,450,396
Ensembl chrNW_004955538:3,444,591...3,450,194 		JBrowse link
G Pacs2 phosphofurin acidic cluster sorting protein 2 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 ClinVar PMID:28492532 NCBI chrNW_004955538:3,559,738...3,616,862
Ensembl chrNW_004955538:3,559,724...3,619,649 		JBrowse link
G Pld4 phospholipase D family member 4 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 ClinVar PMID:28492532 NCBI chrNW_004955538:3,296,581...3,303,187
Ensembl chrNW_004955538:3,295,937...3,303,802 		JBrowse link
G Siva1 SIVA1 apoptosis inducing factor ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 ClinVar PMID:28492532 NCBI chrNW_004955538:3,197,983...3,202,782 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 chrNW_004955538:3,230,617...3,233,611 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 chrNW_004955439:4,954,208...4,956,660 JBrowse link
G Myo1e myosin IE ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 6 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:21756023 PMID:25741868 PMID:28492532 More... NCBI chrNW_004955450:15,421,843...15,551,680
Ensembl chrNW_004955450:15,456,580...15,551,584 		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:11093271 PMID:11241473 More... NCBI chrNW_004955485:9,351,913...9,430,607
Ensembl chrNW_004955485:9,350,087...9,430,607 		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 OMIM
ClinVar		 PMID:24676636 PMID:25741868 PMID:28492532 PMID:29869118 NCBI chrNW_004955460:6,972,077...7,033,900
Ensembl chrNW_004955460:6,947,508...7,033,669 		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:28492532 PMID:32581362 More... NCBI chrNW_004955419:4,604,883...4,626,675
Ensembl chrNW_004955419:4,607,507...4,626,608 		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 OMIM
ClinVar		 PMID:25741868 PMID:27346735 PMID:30244534 PMID:32193649 PMID:32531461 More... NCBI chrNW_004955485:7,784,625...7,798,131
Ensembl chrNW_004955485:7,782,794...7,797,022 		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 chrNW_004955428:18,873,782...18,907,955
Ensembl chrNW_004955428:18,873,782...18,907,955 		JBrowse link
G Avil advillin ISO ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:25741868 PMID:29058690 NCBI chrNW_004955458:5,499,392...5,523,463
Ensembl chrNW_004955458:5,499,652...5,520,137 		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 chrNW_004955406:18,717,383...18,859,263
Ensembl chrNW_004955406:18,717,820...18,858,905 		JBrowse link
G Col4a3 collagen type IV alpha 3 chain ISO ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:25741868 NCBI chrNW_004955453:7,261,278...7,351,414 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 chrNW_004955453:7,405,167...7,524,038
Ensembl chrNW_004955453:7,420,203...7,520,200 		JBrowse link
G Col4a5 collagen type IV alpha 5 chain ISO ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:32581362 NCBI chrNW_004955490:7,168,725...7,409,655
Ensembl chrNW_004955490:7,168,676...7,409,887 		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:28492532 PMID:32581362 NCBI chrNW_004955419:4,604,883...4,626,675
Ensembl chrNW_004955419:4,607,507...4,626,608 		JBrowse link
G Nphs2 NPHS2 stomatin family member, podocin 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 OMIM
ClinVar		 PMID:1523708 PMID:8589695 PMID:8606597 PMID:9536098 PMID:10742096 More... NCBI chrNW_004955406:18,862,054...18,885,214
Ensembl chrNW_004955406:18,863,446...18,885,279 		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 chrNW_004955415:10,494,704...10,585,778
Ensembl chrNW_004955415:10,494,640...10,586,221 		JBrowse link
G Nup205 nucleoporin 205 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26878725 NCBI chrNW_004955494:7,084,150...7,148,264
Ensembl chrNW_004955494:7,084,014...7,148,609 		JBrowse link
G Nup93 nucleoporin 93 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26878725 NCBI chrNW_004955433:14,408,079...14,533,292
Ensembl chrNW_004955433:14,407,962...14,535,500 		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 chrNW_004955485:9,351,913...9,430,607
Ensembl chrNW_004955485:9,350,087...9,430,607 		JBrowse link
G Pla2g7 phospholipase A2 group VII disease_progression ISO RGD PMID:9853251 RGD:7248793 NCBI chrNW_004955437:11,534,251...11,577,942
Ensembl chrNW_004955437:11,534,173...11,555,996 		JBrowse link
G Plce1 phospholipase C epsilon 1 ISO DNA:mutations: : RGD PMID:20591883 RGD:7257521 NCBI chrNW_004955507:555,570...825,568
Ensembl chrNW_004955507:555,499...825,568 		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 chrNW_004955412:4,905,039...5,019,678
Ensembl chrNW_004955412:4,906,650...4,950,525 		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 chrNW_004955458:5,489,551...5,498,572
Ensembl chrNW_004955458:5,489,630...5,498,723 		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 chrNW_004955476:10,464,688...10,504,473
Ensembl chrNW_004955476:10,464,616...10,504,473 		JBrowse link
G Xpo5 exportin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26878725 NCBI chrNW_004955437:9,351,045...9,392,396
Ensembl chrNW_004955437:9,351,045...9,392,396 		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: Nail-patella-like renal disease OMIM
ClinVar		 PMID:23687361 PMID:24042019 PMID:25741868 PMID:26560070 PMID:28059119 More... NCBI chrNW_004955419:1,782,566...1,857,375
Ensembl chrNW_004955419:1,782,566...1,857,375 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15985
    Pathological Conditions, Signs and Symptoms 11022
      Pathologic Processes 7122
        Fibrosis 1301
          renal fibrosis 157
            glomerulosclerosis 125
              focal segmental glomerulosclerosis + 112
Path 2
Term Annotations click to browse term
  disease 15985
    disease of anatomical entity 13810
      Urogenital Diseases 4113
        urinary system disease 1969
          kidney disease 1769
            nephritis 357
              glomerulonephritis 319
                glomerulosclerosis 125
                  focal segmental glomerulosclerosis + 112
paths to the root