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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:focal segmental glomerulosclerosis
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Accession:DOID:1312 term browser browse the term
Definition:A clinicopathological syndrome or diagnostic term for a type of glomerular injury that has multiple causes, primary or secondary. Clinical features include PROTEINURIA, reduced GLOMERULAR FILTRATION RATE, and EDEMA. Kidney biopsy initially indicates focal segmental glomerular consolidation (hyalinosis) or scarring which can progress to globally sclerotic glomeruli leading to eventual KIDNEY FAILURE.
Synonyms:exact_synonym: FGS;   FSGS;   Focal Glomerulosclerosis;   Focal Sclerosing Glomerulonephritides;   Focal Sclerosing Glomerulonephritis;   Segmental Glomerular Hyalinosis;   Segmental Hyalinosis;   focal glomerular sclerosis
 narrow_synonym: FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND DILATED CARDIOMYOPATHY
 primary_id: MESH:D005923
 xref: EFO:0004236;   GARD:6517;   MIM:PS603278;   NCI:C37308
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
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 ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
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 Cubn cubilin ISO ClinVar Annotator: match by term: Glomerulosclerosis, focal ClinVar PMID:25741868 PMID:28492532 NCBI chr17:76,385,046...76,593,133
Ensembl chr17:76,385,060...76,593,231
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 Itgb4 integrin subunit beta 4 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar PMID:25741868 NCBI chr10:101,206,657...101,243,012
Ensembl chr10:101,206,665...101,243,012
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 Med28 mediator complex subunit 28 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar PMID:25741868 NCBI chr14:65,594,785...65,603,583
Ensembl chr14:65,594,647...65,603,583
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 ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
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: Focal segmental glomerulosclerosis 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 Pmm2 phosphomannomutase 2 ISO ClinVar Annotator: match by term: Glomerulosclerosis, focal ClinVar PMID:9140401 PMID:9497260 PMID:9781039 PMID:10386614 PMID:10527672 More... NCBI chr10:6,961,521...6,982,913
Ensembl chr10:6,961,709...6,983,098
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 Psap prosaposin ISO ClinVar Annotator: match by term: Hyalinosis, Segmental Glomerular ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:30976395 PMID:35456468 NCBI chr20:28,214,229...28,240,501
Ensembl chr20:28,214,271...28,240,498
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 SNF2 related chromatin remodeling annealing helicase 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
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:exon:p.P112Q (human)
DNA:nonsense mutation, missense mutations: :multiple
DNA:SNP:exon:p.P15S (human)
ClinVar
CTD
RGD
PMID:19936226 PMID:22980509 PMID:25019165 PMID:25741868 PMID:26467025 More... RGD:7247440, RGD:7247581, RGD:7247580, RGD:7247445, RGD:7247444 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 Cubn cubilin ISO ClinVar Annotator: match by term: Focal sclerosis with hyalinosis ClinVar PMID:25741868 PMID:28492532 NCBI chr17:76,385,046...76,593,133
Ensembl chr17:76,385,060...76,593,231
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 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:12446471 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 Pmm2 phosphomannomutase 2 ISO ClinVar Annotator: match by term: Focal sclerosis with hyalinosis ClinVar PMID:9140401 PMID:9497260 PMID:9781039 PMID:10386614 PMID:10527672 More... NCBI chr10:6,961,521...6,982,913
Ensembl chr10:6,961,709...6,983,098
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 SNF2 related chromatin remodeling annealing helicase 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
Ensembl chr 6:131,831,454...131,854,463
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 general transcription factor IIIB 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:28106320 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:26795916 PMID:27004616 PMID:27942854 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 SNF2 related chromatin remodeling annealing helicase 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 19099
    Pathological Conditions, Signs and Symptoms 13605
      Pathologic Processes 8259
        Fibrosis 1592
          renal fibrosis 241
            glomerulosclerosis 191
              focal segmental glomerulosclerosis 154
                Focal Segmental Glomerulosclerosis 4 0
                Focal Segmental Glomerulosclerosis and Neurodevelopmental Syndrome 1
                Salcedo Syndrome 1
                focal segmental glomerulosclerosis 1 30
                focal segmental glomerulosclerosis 2 1
                focal segmental glomerulosclerosis 3 1
                focal segmental glomerulosclerosis 5 16
                focal segmental glomerulosclerosis 6 2
                focal segmental glomerulosclerosis 7 1
                focal segmental glomerulosclerosis 8 2
                focal segmental glomerulosclerosis 9 1
                nephrotic syndrome type 2 19
Path 2
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      Urogenital Diseases 5375
        urinary system disease 2831
          kidney disease 2579
            nephritis 495
              glomerulonephritis 432
                glomerulosclerosis 191
                  focal segmental glomerulosclerosis 154
                    Focal Segmental Glomerulosclerosis 4 0
                    Focal Segmental Glomerulosclerosis and Neurodevelopmental Syndrome 1
                    Salcedo Syndrome 1
                    focal segmental glomerulosclerosis 1 30
                    focal segmental glomerulosclerosis 2 1
                    focal segmental glomerulosclerosis 3 1
                    focal segmental glomerulosclerosis 5 16
                    focal segmental glomerulosclerosis 6 2
                    focal segmental glomerulosclerosis 7 1
                    focal segmental glomerulosclerosis 8 2
                    focal segmental glomerulosclerosis 9 1
                    nephrotic syndrome type 2 19
paths to the root