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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_004936727:1,418,342...1,422,005
Ensembl chrNW_004936727:1,418,799...1,422,147 		JBrowse link
G Agtr1 angiotensin II receptor type 1 ISO mRNA:decreased expression:kidney RGD PMID:12495295 RGD:6903859 NCBI chrNW_004936519:6,831,096...6,873,977
Ensembl chrNW_004936519:6,831,096...6,873,985 		JBrowse link
G Agtr2 angiotensin II receptor type 2 ISO associated with Kidney Failure, Chronic
mRNA:increased expression:kidney		 RGD PMID:12495295 PMID:20042458 PMID:20631980 RGD:6903284 RGD:6903859 RGD:6903882 NCBI chrNW_004936479:13,252,678...13,255,570
Ensembl chrNW_004936479:13,252,678...13,255,570 		JBrowse link
G Apoe apolipoprotein E ISO protein:increased expression:renal glomerulus (rat) RGD PMID:21907828 PMID:22207560 RGD:6903199 RGD:6903285 NCBI chrNW_004936706:1,512,438...1,516,805 JBrowse link
G Col3a1 collagen type III alpha 1 chain ISO RGD PMID:20610530 RGD:7257557 NCBI chrNW_004936506:8,886,494...8,923,921
Ensembl chrNW_004936506:8,886,494...8,923,930 		JBrowse link
G Esr2 estrogen receptor 2 susceptibility ISO protein:decreased expression:renal glomerulus (mouse) RGD PMID:12000739 RGD:7364801 NCBI chrNW_004936495:7,956,168...8,018,356
Ensembl chrNW_004936495:7,956,766...8,004,357 		JBrowse link
G Fbn1 fibrillin 1 ISO associated with Hypertension RGD PMID:16380460 RGD:7365080 NCBI chrNW_004936471:10,747,030...10,969,223
Ensembl chrNW_004936471:10,746,996...10,969,231 		JBrowse link
G Hbegf heparin binding EGF like growth factor induced ISO RGD PMID:16107576 RGD:1556472 NCBI chrNW_004936531:9,332,939...9,345,039
Ensembl chrNW_004936531:9,332,898...9,345,067 		JBrowse link
G Il1b interleukin 1 beta ISO associated with Hypertension RGD PMID:19948880 RGD:7175503 NCBI chrNW_004936783:1,251,678...1,256,807
Ensembl chrNW_004936783:1,252,158...1,257,165 		JBrowse link
G LOC101968921 angiotensin-converting enzyme treatment ISO RGD PMID:21718676 RGD:12879389 NCBI chrNW_004936541:4,157,847...4,178,156
Ensembl chrNW_004936541:4,157,393...4,178,177 		JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO associated with Hyperhomocysteinemia
protein:decreased expression:kidney (rat)		 RGD PMID:20406136 PMID:21275176 RGD:7207203 RGD:7207363 NCBI chrNW_004936551:5,167,909...5,175,149
Ensembl chrNW_004936551:5,168,044...5,174,857 		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_004936514:7,038,240...7,045,873
Ensembl chrNW_004936514:7,037,639...7,045,793 		JBrowse link
G Nphs1 NPHS1 adhesion molecule, nephrin treatment ISO RGD PMID:22125642 RGD:40902998 NCBI chrNW_004936570:495,421...514,179
Ensembl chrNW_004936570:494,971...513,874 		JBrowse link
G Pla2g7 phospholipase A2 group VII ISO RGD PMID:16213192 RGD:7248790 NCBI chrNW_004936476:13,609,847...13,646,174
Ensembl chrNW_004936476:13,609,374...13,649,998 		JBrowse link
G Plekha7 pleckstrin homology domain containing A7 ameliorates ISO compared to wild type RGD PMID:25136115 RGD:11079199 NCBI chrNW_004936528:2,093,233...2,219,622
Ensembl chrNW_004936528:2,092,746...2,218,870 		JBrowse link
G Pparg peroxisome proliferator activated receptor gamma treatment ISO RGD PMID:11318962 RGD:8553043 NCBI chrNW_004936602:1,230,907...1,368,588
Ensembl chrNW_004936602:1,230,907...1,304,743 		JBrowse link
G Rgs2 regulator of G protein signaling 2 susceptibility ISO associated with Hypertension RGD PMID:26606876 RGD:13524570 NCBI chrNW_004936638:1,065,866...1,068,649
Ensembl chrNW_004936638:1,065,832...1,069,247 		JBrowse link
G Rnls renalase, FAD dependent amine oxidase ISO RGD PMID:24022426 RGD:7327155 NCBI chrNW_004936735:659,826...1,048,135 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_004936543:1,032,543...1,040,956
Ensembl chrNW_004936543:1,032,794...1,039,123 		JBrowse link
G Shc1 SHC adaptor protein 1 ameliorates ISO RGD PMID:27270176 RGD:12792230 NCBI chrNW_004936580:4,511,560...4,522,003
Ensembl chrNW_004936580:4,512,680...4,519,715 		JBrowse link
G Slc2a1 solute carrier family 2 member 1 ISO RGD PMID:19918242 RGD:12879501 NCBI chrNW_004936474:24,205,878...24,236,611
Ensembl chrNW_004936474:24,206,644...24,236,713 		JBrowse link
G Spp1 secreted phosphoprotein 1 ISO RGD PMID:12675855 RGD:6903837 NCBI chrNW_004936905:148,956...156,023
Ensembl chrNW_004936905:148,945...156,079 		JBrowse link
G Synpo synaptopodin treatment ISO RGD PMID:22125642 RGD:40902998 NCBI chrNW_004936504:4,321,985...4,358,757
Ensembl chrNW_004936504:4,321,962...4,358,294 		JBrowse link
G Tnfrsf1b TNF receptor superfamily member 1B ISO associated with Hypertension RGD PMID:23389459 RGD:7245475 NCBI chrNW_004936474:908,414...935,765
Ensembl chrNW_004936474:908,485...934,177 		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_004936470:4,964,526...5,011,808
Ensembl chrNW_004936470:4,965,332...5,011,702 		JBrowse link
G Acta2 actin alpha 2, smooth muscle ISO CTD Direct Evidence: marker/mechanism CTD PMID:20493835 NCBI chrNW_004936735:266,918...283,858
Ensembl chrNW_004936735:266,754...284,377 		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_004936801:1,333,077...1,402,885
Ensembl chrNW_004936801:1,333,077...1,404,054 		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_004936469:55,639,345...55,699,330
Ensembl chrNW_004936469:55,639,068...55,699,640 		JBrowse link
G Agt angiotensinogen ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:19858406 PMID:21357516 RGD:5129175 NCBI chrNW_004936484:19,713,299...19,721,144
Ensembl chrNW_004936484:19,716,165...19,721,261 		JBrowse link
G Agtr1 angiotensin II receptor type 1 ISO protein:increased expression:kidney cortex RGD PMID:21357516 RGD:5129175 NCBI chrNW_004936519:6,831,096...6,873,977
Ensembl chrNW_004936519:6,831,096...6,873,985 		JBrowse link
G Agtr2 angiotensin II receptor type 2 ISO protein:increased expression:kidney cortex RGD PMID:21357516 RGD:5129175 NCBI chrNW_004936479:13,252,678...13,255,570
Ensembl chrNW_004936479:13,252,678...13,255,570 		JBrowse link
G Angpt2 angiopoietin 2 ISO mRNA, protein:increased expression:glomerulus (rat) RGD PMID:16628643 RGD:2314213 NCBI chrNW_004936615:4,472,261...4,524,537
Ensembl chrNW_004936615:4,472,247...4,524,556 		JBrowse link
G Anln anillin actin binding protein ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936478:11,873,676...11,934,425
Ensembl chrNW_004936478:11,880,103...11,933,247 		JBrowse link
G Arhgap24 Rho GTPase activating protein 24 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar NCBI chrNW_004936896:57,250...213,918
Ensembl chrNW_004936896:145,297...214,794 		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_004936540:4,074,543...4,178,859
Ensembl chrNW_004936540:4,074,570...4,178,898 		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_004936481:9,531,655...9,609,564 JBrowse link
G Bdkrb1 bradykinin receptor B1 ISO RGD PMID:21412216 RGD:7175321 NCBI chrNW_004936604:551,774...567,014 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_004936727:1,602,400...1,615,974
Ensembl chrNW_004936727:1,602,398...1,616,060 		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_004936588:3,985,732...4,023,221 JBrowse link
G Casp9 caspase 9 treatment ISO RGD PMID:28245472 RGD:13782344 NCBI chrNW_004936474:3,178,097...3,196,130 JBrowse link
G Cat catalase ISO RGD PMID:22443450 RGD:7205647 NCBI chrNW_004936533:3,601,270...3,637,128
Ensembl chrNW_004936533:3,600,955...3,637,422 		JBrowse link
G Ccn2 cellular communication network factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17121042 NCBI chrNW_004936560:42,561...45,748
Ensembl chrNW_004936560:42,537...45,807 		JBrowse link
G Cd2ap CD2 associated protein ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936476:12,890,595...12,989,046
Ensembl chrNW_004936476:12,890,468...12,987,843 		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_004936727:1,595,872...1,602,274
Ensembl chrNW_004936727:1,595,499...1,602,215 		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_004936563:960,883...998,136
Ensembl chrNW_004936563:960,883...988,634 		JBrowse link
G Cmas cytidine monophosphate N-acetylneuraminic acid synthetase ISO MouseDO NCBI chrNW_004936548:4,877,753...4,895,768
Ensembl chrNW_004936548:4,877,530...4,895,822 		JBrowse link
G Col4a1 collagen type IV alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:16191423 PMID:18682491 NCBI chrNW_004936472:2,416,043...2,543,561
Ensembl chrNW_004936472:2,416,566...2,542,814 		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_004936525:8,642,744...8,774,975 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_004936525:8,788,753...8,899,671
Ensembl chrNW_004936525:8,795,436...8,899,149 		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_004936499:6,143,736...6,360,565
Ensembl chrNW_004936499:6,144,857...6,360,368 		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_004936738:1,354,424...1,371,497 JBrowse link
G Coq8b coenzyme Q8B ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar NCBI chrNW_004936661:2,989,164...3,008,955
Ensembl chrNW_004936661:2,989,162...3,006,289 		JBrowse link
G Crb2 crumbs cell polarity complex component 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936487:11,793,078...11,813,803
Ensembl chrNW_004936487:11,793,005...11,812,934 		JBrowse link
G Edn1 endothelin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16191423 NCBI chrNW_004936534:885,489...892,292
Ensembl chrNW_004936534:885,287...891,772 		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_004936648:395,526...546,705
Ensembl chrNW_004936648:395,524...546,729 		JBrowse link
G Fn1 fibronectin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16191423 NCBI chrNW_004936586:1,708,803...1,773,372
Ensembl chrNW_004936586:1,708,684...1,773,383 		JBrowse link
G Havcr1 hepatitis A virus cellular receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19225054 NCBI chrNW_004936515:6,030,402...6,051,161 JBrowse link
G Hr HR lysine demethylase and nuclear receptor corepressor ISO RGD PMID:21325752 RGD:150520024 NCBI chrNW_004936555:5,936,431...5,954,852
Ensembl chrNW_004936555:5,936,220...5,954,974 		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_004936543:2,110,351...2,111,896
Ensembl chrNW_004936543:2,110,304...2,112,186 		JBrowse link
G Il1b interleukin 1 beta ISO RGD PMID:21412216 RGD:7175321 NCBI chrNW_004936783:1,251,678...1,256,807
Ensembl chrNW_004936783:1,252,158...1,257,165 		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_004936621:677,548...693,609
Ensembl chrNW_004936621:682,027...693,605 		JBrowse link
G Itgb3 integrin subunit beta 3 ISO RGD PMID:21804539 RGD:6907385 NCBI chrNW_004936541:2,822,789...2,871,069
Ensembl chrNW_004936541:2,815,738...2,871,035 		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_004936570:485,202...493,350
Ensembl chrNW_004936570:486,249...493,356 		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_004936529:826,178...841,304
Ensembl chrNW_004936529:826,142...841,337 		JBrowse link
G Lipc lipase C, hepatic type ISO protein:reduced expression:serum (rat) RGD PMID:14531811 RGD:2308781 NCBI chrNW_004936471:19,604,083...19,733,721
Ensembl chrNW_004936471:19,703,236...19,733,686 		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_004936487:14,513,303...14,587,771
Ensembl chrNW_004936487:14,513,290...14,587,902 		JBrowse link
G LOC101968920 eotaxin treatment ISO RGD PMID:22427838 RGD:7247740 NCBI chrNW_004936538:835,436...848,907
Ensembl chrNW_004936538:835,859...837,710
Ensembl chrNW_004936538:835,859...837,710 		JBrowse link
G LOC101971998 guanine nucleotide-binding protein G(q) subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:16267159 NCBI chrNW_004936503:13,098,517...13,276,106
Ensembl chrNW_004936503:13,099,558...13,276,152 		JBrowse link
G LOC101977071 sialin ISO ClinVar Annotator: match by term: Glomerulosclerosis, focal ClinVar PMID:25741868 PMID:28492532 PMID:29140481 NCBI chrNW_004936859:668,900...684,207 JBrowse link
G Lpl lipoprotein lipase ISO RGD PMID:14531811 RGD:2308781 NCBI chrNW_004936555:4,084,099...4,108,219
Ensembl chrNW_004936555:4,084,099...4,108,365 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO mRNA, protein:increased expression, increased activity:kidney RGD PMID:19357873 RGD:2325738 NCBI chrNW_004936475:7,801,356...7,825,831
Ensembl chrNW_004936475:7,801,277...7,825,851 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO mRNA, protein:increased expression, increased activity:kidney RGD PMID:19357873 RGD:2325738 NCBI chrNW_004936514:7,038,240...7,045,873
Ensembl chrNW_004936514:7,037,639...7,045,793 		JBrowse link
G Mpv17 mitochondrial inner membrane protein MPV17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18818194 NCBI chrNW_004936493:5,246,803...5,258,147
Ensembl chrNW_004936493:5,248,059...5,258,147 		JBrowse link
G Myh10 myosin heavy chain 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9678433 NCBI chrNW_004936595:1,697,283...1,832,571
Ensembl chrNW_004936595:1,694,102...1,832,364 		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_004936492:4,384,215...4,466,229
Ensembl chrNW_004936492:4,384,215...4,466,262 		JBrowse link
G Myo1e myosin IE ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936471:20,244,424...20,435,604
Ensembl chrNW_004936471:20,244,397...20,435,648 		JBrowse link
G Myo9a myosin IXA ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar PMID:25741868 PMID:33412162 NCBI chrNW_004936471:31,255,387...31,548,819
Ensembl chrNW_004936471:31,259,652...31,473,926 		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_004936864:709,693...732,119
Ensembl chrNW_004936864:709,709...731,718 		JBrowse link
G Noc3l NOC3 like DNA replication regulator ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar PMID:25741868 NCBI chrNW_004936601:782,923...811,598
Ensembl chrNW_004936601:782,901...816,185 		JBrowse link
G Nos2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16191423 NCBI chrNW_004936538:4,052,277...4,097,051
Ensembl chrNW_004936538:4,052,448...4,097,051 		JBrowse link
G Nphp3 nephrocystin 3 ISO ClinVar Annotator: match by term: Glomerulosclerosis, focal ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936529:6,013,321...6,048,249
Ensembl chrNW_004936529:6,009,301...6,049,447 		JBrowse link
G Nphp4 nephrocystin 4 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936623:802,152...904,198 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_004936570:495,421...514,179
Ensembl chrNW_004936570:494,971...513,874 		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_004936481:9,496,083...9,516,086
Ensembl chrNW_004936481:9,496,127...9,515,534 		JBrowse link
G Nup93 nucleoporin 93 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar PMID:32581362 NCBI chrNW_004936475:8,930,320...9,027,840
Ensembl chrNW_004936475:8,930,314...9,032,287 		JBrowse link
G Nxf5 nuclear RNA export factor 5 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar PMID:23686279 NCBI chrNW_004936813:733,393...874,254 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_004936600:4,850,594...4,939,010
Ensembl chrNW_004936600:4,850,552...4,928,214 		JBrowse link
G Pcna proliferating cell nuclear antigen ISO CTD Direct Evidence: marker/mechanism CTD PMID:17121042 NCBI chrNW_004936485:13,766,221...13,771,215 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_004936564:3,529,140...3,813,449
Ensembl chrNW_004936564:3,583,396...3,813,155 		JBrowse link
G Pias1 protein inhibitor of activated STAT 1 ISO RGD PMID:19350281 RGD:8693412 NCBI chrNW_004936471:27,925,153...28,055,632
Ensembl chrNW_004936471:27,925,153...28,055,632 		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_004936601:817,151...1,105,824
Ensembl chrNW_004936601:816,190...1,105,830 		JBrowse link
G Ppp3ca protein phosphatase 3 catalytic subunit alpha ISO RGD PMID:26436650 RGD:13515117 NCBI chrNW_004936520:1,987,989...2,146,473
Ensembl chrNW_004936520:1,987,045...2,146,540 		JBrowse link
G Ppp3cb protein phosphatase 3 catalytic subunit beta ISO RGD PMID:26436650 RGD:13515117 NCBI chrNW_004936521:5,576,705...5,614,738
Ensembl chrNW_004936521:5,575,996...5,615,370 		JBrowse link
G Rap1gap RAP1 GTPase activating protein ISO mRNA:increased expression:renal glomerulus (human) RGD PMID:24642466 RGD:9835343 NCBI chrNW_004936474:7,242,528...7,284,342
Ensembl chrNW_004936474:7,242,824...7,284,395 		JBrowse link
G Reg1a regenerating family member 1 alpha ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar PMID:25741868 NCBI chrNW_004936556:4,873,331...4,875,608
Ensembl chrNW_004936556:4,873,331...4,875,608 		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_004936475:6,219,187...6,321,612
Ensembl chrNW_004936475:6,215,475...6,321,618 		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_004936676:167,482...225,827
Ensembl chrNW_004936676:170,010...225,457 		JBrowse link
G Sdccag8 SHH signaling and ciliogenesis regulator SDCCAG8 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar PMID:25741868 NCBI chrNW_004936526:7,202,147...7,431,455
Ensembl chrNW_004936526:7,202,150...7,430,874 		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_004936543:1,032,543...1,040,956
Ensembl chrNW_004936543:1,032,794...1,039,123 		JBrowse link
G Shh sonic hedgehog signaling molecule ISO RGD PMID:24744439 RGD:12859042 NCBI chrNW_004936527:10,033,095...10,042,713
Ensembl chrNW_004936527:10,033,299...10,042,599 		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_004936586:828,661...887,988
Ensembl chrNW_004936586:828,650...888,047 		JBrowse link
G Spp1 secreted phosphoprotein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9294829 NCBI chrNW_004936905:148,956...156,023
Ensembl chrNW_004936905:148,945...156,079 		JBrowse link
G Srgap1 SLIT-ROBO Rho GTPase activating protein 1 ISO MouseDO NCBI chrNW_004936545:2,277,449...2,557,330
Ensembl chrNW_004936545:2,278,290...2,552,552 		JBrowse link
G Tgfb1 transforming growth factor beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16191423 PMID:18682491 PMID:20493835 NCBI chrNW_004936661:3,742,080...3,758,266
Ensembl chrNW_004936661:3,742,066...3,758,272 		JBrowse link
G Tmem63c transmembrane protein 63C ISO protein:decreased expression:kidney,renal glomerulus (human) RGD PMID:30900988 RGD:15023481 NCBI chrNW_004936488:6,050,368...6,086,881
Ensembl chrNW_004936488:6,034,618...6,086,207 		JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:serum RGD PMID:21221075 RGD:7245511 NCBI chrNW_004936727:1,936,066...1,937,766
Ensembl chrNW_004936727:1,936,066...1,937,766 		JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO protein:increased expression:serum RGD PMID:21221075 RGD:7245511 NCBI chrNW_004936709:1,407,327...1,421,448
Ensembl chrNW_004936709:1,407,278...1,421,921 		JBrowse link
G Tnfrsf1b TNF receptor superfamily member 1B ISO protein:increased expression:serum RGD PMID:21221075 RGD:7245511 NCBI chrNW_004936474:908,414...935,765
Ensembl chrNW_004936474:908,485...934,177 		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_004936551:6,173,588...6,282,971
Ensembl chrNW_004936551:6,174,122...6,282,925 		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_004936503:2,407,040...2,440,366
Ensembl chrNW_004936503:2,405,689...2,440,502 		JBrowse link
G Vwf von Willebrand factor ISO RGD PMID:22295953 RGD:7207031 NCBI chrNW_004936709:1,578,137...1,741,877
Ensembl chrNW_004936709:1,579,096...1,741,754 		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_004936533:5,411,949...5,459,693
Ensembl chrNW_004936533:5,411,848...5,459,693 		JBrowse link
G Zmpste24 zinc metallopeptidase STE24 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17152860 NCBI chrNW_004936474:22,035,059...22,077,846
Ensembl chrNW_004936474:22,034,801...22,077,986 		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_004936801:1,333,077...1,402,885
Ensembl chrNW_004936801:1,333,077...1,404,054 		JBrowse link
G Arhgap24 Rho GTPase activating protein 24 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 1 ClinVar NCBI chrNW_004936896:57,250...213,918
Ensembl chrNW_004936896:145,297...214,794 		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_004936727:1,602,400...1,615,974
Ensembl chrNW_004936727:1,602,398...1,616,060 		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_004936588:3,985,732...4,023,221 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_004936727:1,595,872...1,602,274
Ensembl chrNW_004936727:1,595,499...1,602,215 		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_004936563:960,883...998,136
Ensembl chrNW_004936563:960,883...988,634 		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_004936648:395,526...546,705
Ensembl chrNW_004936648:395,524...546,729 		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_004936529:826,178...841,304
Ensembl chrNW_004936529:826,142...841,337 		JBrowse link
G LOC101968921 angiotensin-converting enzyme treatment ISO RGD PMID:8505110 RGD:12880006 NCBI chrNW_004936541:4,157,847...4,178,156
Ensembl chrNW_004936541:4,157,393...4,178,177 		JBrowse link
G LOC101977071 sialin ISO ClinVar Annotator: match by term: Focal sclerosis with hyalinosis ClinVar PMID:25741868 PMID:28492532 PMID:29140481 NCBI chrNW_004936859:668,900...684,207 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_004936492:4,384,215...4,466,229
Ensembl chrNW_004936492:4,384,215...4,466,262 		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_004936864:709,693...732,119
Ensembl chrNW_004936864:709,709...731,718 		JBrowse link
G Nphp3 nephrocystin 3 ISO ClinVar Annotator: match by term: Focal sclerosis with hyalinosis ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936529:6,013,321...6,048,249
Ensembl chrNW_004936529:6,009,301...6,049,447 		JBrowse link
G Nup107 nucleoporin 107 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 1 ClinVar NCBI chrNW_004936545:6,600,124...6,642,839
Ensembl chrNW_004936545:6,600,088...6,642,870 		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_004936600:4,850,594...4,939,010
Ensembl chrNW_004936600:4,850,552...4,928,214 		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_004936601:817,151...1,105,824
Ensembl chrNW_004936601:816,190...1,105,830 		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_004936475:6,219,187...6,321,612
Ensembl chrNW_004936475:6,215,475...6,321,618 		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_004936551:6,173,588...6,282,971
Ensembl chrNW_004936551:6,174,122...6,282,925 		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_004936551:6,173,588...6,282,971
Ensembl chrNW_004936551:6,174,122...6,282,925 		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_004936476:12,890,595...12,989,046
Ensembl chrNW_004936476:12,890,468...12,987,843 		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_004936621:655,004...667,608
Ensembl chrNW_004936621:655,008...664,762 		JBrowse link
G Ahnak2 AHNAK nucleoprotein 2 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 ClinVar PMID:28492532 NCBI chrNW_004936621:486,855...512,079 JBrowse link
G Akt1 AKT serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 ClinVar PMID:28492532 NCBI chrNW_004936621:620,163...639,115
Ensembl chrNW_004936621:620,074...639,093 		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_004936621:265,834...329,255
Ensembl chrNW_004936621:265,829...328,040 		JBrowse link
G Btbd6 BTB domain containing 6 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 ClinVar PMID:28492532 NCBI chrNW_004936621:301,879...304,177
Ensembl chrNW_004936621:300,503...304,183 		JBrowse link
G Cdca4 cell division cycle associated 4 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 ClinVar PMID:28492532 NCBI chrNW_004936621:457,072...458,757 JBrowse link
G Cep170b centrosomal protein 170B ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 ClinVar PMID:28492532 NCBI chrNW_004936621:531,419...554,390
Ensembl chrNW_004936621:531,382...554,166 		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_004936621:464,993...472,608
Ensembl chrNW_004936621:464,507...472,642 		JBrowse link
G Gpr132 G protein-coupled receptor 132 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 ClinVar PMID:28492532 NCBI chrNW_004936621:428,332...442,283 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_004936621:677,548...693,609
Ensembl chrNW_004936621:682,027...693,605 		JBrowse link
G Jag2 jagged canonical Notch ligand 2 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 ClinVar PMID:28492532 NCBI chrNW_004936621:363,489...380,616
Ensembl chrNW_004936621:366,616...380,618 		JBrowse link
G Nudt14 nudix hydrolase 14 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 ClinVar PMID:28492532 NCBI chrNW_004936621:346,463...354,014
Ensembl chrNW_004936621:346,479...354,042 		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_004936621:172,727...206,803
Ensembl chrNW_004936621:175,387...206,662 		JBrowse link
G Pld4 phospholipase D family member 4 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 ClinVar PMID:28492532 NCBI chrNW_004936621:515,710...523,317
Ensembl chrNW_004936621:515,636...523,359 		JBrowse link
G Siva1 SIVA1 apoptosis inducing factor ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 ClinVar PMID:28492532 NCBI chrNW_004936621:641,456...650,067
Ensembl chrNW_004936621:644,852...650,132 		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_004936621:609,206...612,868 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_004936489:9,281,228...9,283,132 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_004936471:20,244,424...20,435,604
Ensembl chrNW_004936471:20,244,397...20,435,648 		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_004936600:4,850,594...4,939,010
Ensembl chrNW_004936600:4,850,552...4,928,214 		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_004936478:11,873,676...11,934,425
Ensembl chrNW_004936478:11,880,103...11,933,247 		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_004936487:11,793,078...11,813,803
Ensembl chrNW_004936487:11,793,005...11,812,934 		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_004936600:3,244,888...3,259,042
Ensembl chrNW_004936600:3,244,405...3,259,218 		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_004936662:926,302...959,964
Ensembl chrNW_004936662:925,940...939,451 		JBrowse link
G Avil advillin ISO ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:25741868 PMID:29058690 NCBI chrNW_004936646:1,930,447...1,952,069
Ensembl chrNW_004936646:1,930,656...1,948,991 		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_004936481:9,531,655...9,609,564 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_004936525:8,642,744...8,774,975 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_004936525:8,788,753...8,899,671
Ensembl chrNW_004936525:8,795,436...8,899,149 		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_004936499:6,143,736...6,360,565
Ensembl chrNW_004936499:6,144,857...6,360,368 		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_004936487:11,793,078...11,813,803
Ensembl chrNW_004936487:11,793,005...11,812,934 		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_004936481:9,496,083...9,516,086
Ensembl chrNW_004936481:9,496,127...9,515,534 		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_004936504:10,960,069...11,056,834
Ensembl chrNW_004936504:10,959,192...11,056,856 		JBrowse link
G Nup205 nucleoporin 205 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26878725 NCBI chrNW_004936592:363,723...431,966
Ensembl chrNW_004936592:363,748...431,986 		JBrowse link
G Nup93 nucleoporin 93 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26878725 NCBI chrNW_004936475:8,930,320...9,027,840
Ensembl chrNW_004936475:8,930,314...9,032,287 		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_004936600:4,850,594...4,939,010
Ensembl chrNW_004936600:4,850,552...4,928,214 		JBrowse link
G Pla2g7 phospholipase A2 group VII disease_progression ISO RGD PMID:9853251 RGD:7248793 NCBI chrNW_004936476:13,609,847...13,646,174
Ensembl chrNW_004936476:13,609,374...13,649,998 		JBrowse link
G Plce1 phospholipase C epsilon 1 ISO DNA:mutations: : RGD PMID:20591883 RGD:7257521 NCBI chrNW_004936601:817,151...1,105,824
Ensembl chrNW_004936601:816,190...1,105,830 		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_004936551:6,173,588...6,282,971
Ensembl chrNW_004936551:6,174,122...6,282,925 		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_004936646:1,919,326...1,936,694
Ensembl chrNW_004936646:1,908,304...1,930,287 		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_004936533:5,411,949...5,459,693
Ensembl chrNW_004936533:5,411,848...5,459,693 		JBrowse link
G Xpo5 exportin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26878725 NCBI chrNW_004936476:16,434,629...16,481,044
Ensembl chrNW_004936476:16,434,638...16,481,044 		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_004936487:14,513,303...14,587,771
Ensembl chrNW_004936487:14,513,290...14,587,902 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16376
    Pathological Conditions, Signs and Symptoms 11260
      Pathologic Processes 7243
        Fibrosis 1316
          renal fibrosis 164
            glomerulosclerosis 129
              focal segmental glomerulosclerosis + 115
Path 2
Term Annotations click to browse term
  disease 16376
    disease of anatomical entity 14106
      Urogenital Diseases 4206
        urinary system disease 2016
          kidney disease 1812
            nephritis 369
              glomerulonephritis 325
                glomerulosclerosis 129
                  focal segmental glomerulosclerosis + 115
paths to the root