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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:8,189,267...8,229,415
Ensembl chr  X:15,470,896...15,510,891 		JBrowse link
G ACTA2 actin alpha 2, smooth muscle ISO CTD Direct Evidence: marker/mechanism CTD PMID:20493835 NCBI chr10:85,660,983...85,678,729
Ensembl chr10:89,164,344...89,182,080 		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 chr19:35,742,758...35,825,321
Ensembl chr19:44,313,569...44,395,508 		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 chr2B:827,184...900,424
Ensembl chr2B:114,373,392...114,445,729 		JBrowse link
G AGT angiotensinogen ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:19858406 PMID:21357516 RGD:5129175 NCBI chr 1:206,252,141...206,263,830
Ensembl chr 1:211,279,015...211,291,044 		JBrowse link
G AGTR1 angiotensin II receptor type 1 ISO protein:increased expression:kidney cortex RGD PMID:21357516 RGD:5129175 NCBI chr 3:145,722,475...145,767,550
Ensembl chr 3:153,341,947...153,345,380 		JBrowse link
G AGTR2 angiotensin II receptor type 2 ISO protein:increased expression:kidney cortex RGD PMID:21357516 RGD:5129175 NCBI chr  X:105,252,903...105,257,171
Ensembl chr  X:115,671,594...115,672,685 		JBrowse link
G ANGPT2 angiopoietin 2 ISO mRNA, protein:increased expression:glomerulus (rat) RGD PMID:16628643 RGD:2314213 NCBI chr 8:718,367...782,534
Ensembl chr 8:6,506,014...6,566,915 		JBrowse link
G ANLN anillin, actin binding protein ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:37,011,518...37,075,349
Ensembl chr 7:37,243,917...37,304,137 		JBrowse link
G ARHGAP24 Rho GTPase activating protein 24 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar NCBI chr 4:77,788,074...78,316,357
Ensembl chr 4:88,619,296...89,045,861 		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 chr 1:154,847,978...155,043,339
Ensembl chr 1:158,536,967...158,724,251 		JBrowse link
G BDKRB1 bradykinin receptor B1 ISO RGD PMID:21412216 RGD:7175321 NCBI chr14:76,885,923...76,894,456 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 chr 6:31,590,135...31,606,368 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 chr19:5,708,211...5,753,178
Ensembl chr19:6,629,287...6,674,699 		JBrowse link
G CASP9 caspase 9 treatment ISO RGD PMID:28245472 RGD:13782344 NCBI chr 1:14,630,659...14,662,865
Ensembl chr 1:15,624,666...15,656,266 		JBrowse link
G CAT catalase ISO RGD PMID:22443450 RGD:7205647 NCBI chr11:34,413,253...34,446,831
Ensembl chr11:34,289,603...34,323,160 		JBrowse link
G CCN2 cellular communication network factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17121042 NCBI chr 6:129,729,572...129,733,113
Ensembl chr 6:133,836,319...133,842,077 		JBrowse link
G CD2AP CD2 associated protein ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:47,065,284...47,210,746
Ensembl chr 6:48,328,863...48,474,163 		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 chr 6:31,606,716...31,612,782 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 chr 1:172,155,882...172,251,632
Ensembl chr 1:176,455,247...176,525,521 		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 4:102,236,868...102,311,359
Ensembl chr 4:112,804,645...112,865,581 		JBrowse link
G CMAS cytidine monophosphate N-acetylneuraminic acid synthetase ISO MouseDO NCBI chr12:64,234,241...64,253,306
Ensembl chr12:66,838,670...66,857,774 		JBrowse link
G COL4A1 collagen type IV alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:16191423 PMID:18682491 NCBI chr13:91,282,617...91,440,187
Ensembl chr13:110,407,009...110,562,529 		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 chr2B:114,410,703...114,559,336
Ensembl chr2B:233,294,783...233,371,021 		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:20029656 PMID:21196518 More... NCBI chr2B:114,227,135...114,410,564
Ensembl chr2B:233,065,678...233,205,892 		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:97,538,978...97,797,019
Ensembl chr  X:108,008,689...108,166,095 		JBrowse link
G COQ2 coenzyme Q2, polyprenyltransferase ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 4:40,913,015...40,934,594
Ensembl chr 4:46,762,659...46,784,014 		JBrowse link
G COQ8B coenzyme Q8B ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar PMID:25741868 PMID:32543055 NCBI chr19:37,735,725...37,761,160
Ensembl chr19:46,242,576...46,267,503 		JBrowse link
G CRB2 crumbs cell polarity complex component 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:94,473,423...94,511,285
Ensembl chr 9:123,011,968...123,032,855 		JBrowse link
G CUBN cubilin ISO ClinVar Annotator: match by term: Glomerulosclerosis, focal ClinVar PMID:25741868 PMID:28492532 NCBI chr10:17,141,464...17,446,867
Ensembl chr10:17,415,551...17,719,129 		JBrowse link
G EDN1 endothelin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16191423 NCBI chr 6:12,076,312...12,142,861
Ensembl chr 6:12,462,718...12,503,545 		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 8:67,728,057...68,060,069
Ensembl chr 8:69,387,769...69,551,829 		JBrowse link
G FN1 fibronectin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16191423 NCBI chr2B:102,623,568...102,698,747
Ensembl chr2B:221,208,431...221,284,003 		JBrowse link
G HAVCR1 hepatitis A virus cellular receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19225054 NCBI chr 5:152,429,337...152,459,800
Ensembl chr 5:158,413,073...158,442,481 		JBrowse link
G HR HR lysine demethylase and nuclear receptor corepressor ISO RGD PMID:21325752 RGD:150520024 NCBI chr 8:21,359,348...21,378,315
Ensembl chr 8:18,298,709...18,316,151 		JBrowse link
G HSPB1 heat shock protein family B (small) member 1 ISO protein:increased expression:glomerulus, podocyte: RGD PMID:21931298 RGD:10402764 NCBI chr 7:67,716,021...67,717,762
Ensembl chr 7:82,751,523...82,752,984 		JBrowse link
G IL1B interleukin 1 beta ISO RGD PMID:21412216 RGD:7175321 NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424 		JBrowse link
G INF2 inverted formin 2 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal ClinVar PMID:21866090 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30655312 More... NCBI chr14:85,339,478...85,366,336
Ensembl chr14:105,145,779...105,163,154 		JBrowse link
G ITGB3 integrin subunit beta 3 ISO RGD PMID:21804539 RGD:6907385 NCBI chr17:10,134,450...10,194,596
Ensembl chr17:10,353,111...10,392,382 		JBrowse link
G ITGB4 integrin subunit beta 4 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar PMID:25741868 NCBI chr17:69,671,252...69,708,520
Ensembl chr17:75,222,376...75,259,401 		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 chr19:32,769,592...32,785,045
Ensembl chr19:41,518,306...41,533,467 		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 3:49,045,419...49,057,340
Ensembl chr 3:50,125,460...50,137,074 		JBrowse link
G LIPC lipase C, hepatic type ISO protein:reduced expression:serum (rat) RGD PMID:14531811 RGD:2308781 NCBI chr15:37,363,507...37,537,723
Ensembl chr15:55,814,017...55,847,005 		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 9:97,730,850...97,820,554
Ensembl chr 9:126,240,722...126,322,420 		JBrowse link
G LOC100978865 nuclear RNA export factor 2 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar PMID:23686279 NCBI chr  X:91,029,232...91,040,710 JBrowse link
G LOC100986730 guanine nucleotide-binding protein G(q) subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:16267159 NCBI chr 9:46,816,409...47,129,116
Ensembl chr 9:76,575,815...76,773,849 		JBrowse link
G LPL lipoprotein lipase ISO RGD PMID:14531811 RGD:2308781 NCBI chr 8:19,164,541...19,193,100
Ensembl chr 8:16,113,415...16,142,966 		JBrowse link
G MED28 mediator complex subunit 28 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar PMID:25741868 NCBI chr 4:12,035,441...12,051,718
Ensembl chr 4:17,328,975...17,348,546 		JBrowse link
G MMP2 matrix metallopeptidase 2 ISO mRNA, protein:increased expression, increased activity:kidney RGD PMID:19357873 RGD:2325738 NCBI chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279 		JBrowse link
G MMP9 matrix metallopeptidase 9 ISO mRNA, protein:increased expression, increased activity:kidney RGD PMID:19357873 RGD:2325738 NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129 		JBrowse link
G MPV17 mitochondrial inner membrane protein MPV17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18818194 NCBI chr2A:27,311,551...27,325,249
Ensembl chr2A:27,399,258...27,414,090 		JBrowse link
G MYH10 myosin heavy chain 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9678433 NCBI chr17:43,023,922...43,180,159
Ensembl chr17:47,761,322...47,911,192 		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 chr22:17,200,623...17,305,826
Ensembl chr22:35,039,101...35,121,618 		JBrowse link
G MYO1E myosin IE ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr15:38,106,599...38,343,040
Ensembl chr15:56,413,570...56,649,722 		JBrowse link
G MYO9A myosin IXA ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal ClinVar PMID:25741868 PMID:33412162 NCBI chr15:50,771,747...51,069,700
Ensembl chr15:69,541,318...69,760,771 		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 chr 1:223,052,307...223,084,736
Ensembl chr 1:228,505,147...228,537,216 		JBrowse link
G NOC3L NOC3 like DNA replication regulator ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar PMID:25741868 NCBI chr10:91,052,341...91,101,068
Ensembl chr10:94,579,840...94,609,405 		JBrowse link
G NOS2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16191423 NCBI chr17:28,984,295...29,021,516
Ensembl chr17:29,471,510...29,617,093 		JBrowse link
G NPHP1 nephrocystin 1 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar PMID:25741868 PMID:28492532 NCBI chr2A:91,520,612...91,602,187
Ensembl chr2A:111,625,267...111,706,205 		JBrowse link
G NPHP3 nephrocystin 3 ISO ClinVar Annotator: match by term: Glomerulosclerosis, focal ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:129,753,399...129,795,300 JBrowse link
G NPHP4 nephrocystin 4 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:4,620,593...4,756,363
Ensembl chr 1:5,878,739...6,012,864 		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 chr19:32,742,802...32,770,600
Ensembl chr19:41,492,444...41,518,471 		JBrowse link
G NPHS2 NPHS2 stomatin family member, podocin ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal ClinVar PMID:1523708 PMID:8589695 PMID:10742096 PMID:11805166 PMID:11805168 More... NCBI chr 1:155,038,753...155,064,332 JBrowse link
G NUP93 nucleoporin 93 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar PMID:32581362 NCBI chr16:37,007,481...37,122,785
Ensembl chr16:56,140,546...56,255,561 		JBrowse link
G PAX2 paired box 2 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal ClinVar PMID:3377002 PMID:8589702 PMID:9106533 PMID:11093271 PMID:11241473 More... NCBI chr10:97,344,978...97,429,086
Ensembl chr10:100,822,676...100,904,028 		JBrowse link
G PCNA proliferating cell nuclear antigen ISO CTD Direct Evidence: marker/mechanism CTD PMID:17121042 NCBI chr20:5,134,930...5,146,603
Ensembl chr20:4,927,731...4,939,440 		JBrowse link
G PDSS2 decaprenyl diphosphate synthase subunit 2 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:104,963,942...105,272,807
Ensembl chr 6:108,833,223...109,137,055 		JBrowse link
G PIAS1 protein inhibitor of activated STAT 1 ISO RGD PMID:19350281 RGD:8693412 NCBI chr15:47,006,718...47,141,035
Ensembl chr15:65,276,530...65,410,105 		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 chr10:90,731,695...91,065,846
Ensembl chr10:94,278,550...94,575,024 		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 chr16:7,731,266...7,782,871
Ensembl chr16:8,971,692...9,020,406 		JBrowse link
G PPP3CA protein phosphatase 3 catalytic subunit alpha ISO RGD PMID:26436650 RGD:13515117 NCBI chr 4:93,447,095...93,770,339
Ensembl chr 4:104,113,520...104,435,394 		JBrowse link
G PPP3CB protein phosphatase 3 catalytic subunit beta ISO RGD PMID:26436650 RGD:13515117 NCBI chr10:69,984,241...70,043,352
Ensembl chr10:72,443,051...72,501,752 		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 chr10:68,286,359...68,321,349
Ensembl chr10:70,810,881...70,828,781 		JBrowse link
G RAP1GAP RAP1 GTPase activating protein ISO mRNA:increased expression:renal glomerulus (human) RGD PMID:24642466 RGD:9835343 NCBI chr 1:20,790,076...20,860,511
Ensembl chr 1:21,754,733...21,824,405 		JBrowse link
G RPGRIP1L RPGRIP1 like ISO ClinVar Annotator: match by term: Glomerulosclerosis, focal ClinVar PMID:19430481 PMID:20301500 PMID:25741868 PMID:28492532 NCBI chr16:33,836,361...33,939,265
Ensembl chr16:52,920,796...53,023,174 		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 chr 4:47,992,589...48,047,528
Ensembl chr 4:53,830,488...53,886,059 		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 chr 1:218,856,571...219,107,855
Ensembl chr 1:224,239,009...224,481,132 		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 chr 7:93,267,517...93,279,728
Ensembl chr 7:106,510,130...106,518,450 		JBrowse link
G SHH sonic hedgehog signaling molecule ISO RGD PMID:24744439 RGD:12859042 NCBI chr 7:147,400,112...147,414,036
Ensembl chr 7:159,114,666...159,126,651 		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 6:71,404,354...71,477,511
Ensembl chr 6:74,702,447...74,760,557 		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 chr2B:103,672,934...103,743,802
Ensembl chr2B:222,276,353...222,347,258 		JBrowse link
G SPP1 secreted phosphoprotein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9294829 NCBI chr 4:80,263,711...80,271,466
Ensembl chr 4:90,988,200...90,995,935 		JBrowse link
G SRGAP1 SLIT-ROBO Rho GTPase activating protein 1 ISO MouseDO NCBI chr12:24,760,093...25,066,794
Ensembl chr12:25,262,893...25,564,180 		JBrowse link
G TGFB1 transforming growth factor beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16191423 PMID:18682491 PMID:20493835 NCBI chr19:38,324,009...38,347,003
Ensembl chr19:46,831,659...46,852,973 		JBrowse link
G TMEM63C transmembrane protein 63C ISO protein:decreased expression:kidney,renal glomerulus (human) RGD PMID:30900988 RGD:15023481 NCBI chr14:57,734,857...57,812,529
Ensembl chr14:76,974,416...77,011,555 		JBrowse link
G TNF tumor necrosis factor ISO protein:increased expression:serum RGD PMID:21221075 RGD:7245511 NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381 		JBrowse link
G TNFAIP2 TNF alpha induced protein 2 ISO MouseDO NCBI chr14:83,745,176...83,759,157
Ensembl chr14:103,561,181...103,570,309 		JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A ISO protein:increased expression:serum RGD PMID:21221075 RGD:7245511 NCBI chr12:6,457,617...6,470,969
Ensembl chr12:6,374,257...6,387,613 		JBrowse link
G TNFRSF1B TNF receptor superfamily member 1B ISO protein:increased expression:serum RGD PMID:21221075 RGD:7245511 NCBI chr 1:10,915,743...10,957,765
Ensembl chr 1:12,130,663...12,172,646 		JBrowse link
G TRPC6 transient receptor potential cation channel subfamily C member 6 treatment ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal
DNA:SNP:exon:p.P15S (human)		 RGD
ClinVar		 PMID:19936226 PMID:21839714 PMID:22980509 PMID:23385000 PMID:25019165 More... RGD:7247440 RGD:7247444 RGD:7247445 NCBI chr11:96,414,498...96,551,670
Ensembl chr11:99,919,410...100,050,685 		JBrowse link
G VLDLR very low density lipoprotein receptor ISO protein:decreased expression:adipose tissue, skeletal muscle (rat) RGD PMID:11786096 RGD:2324671 NCBI chr 9:2,428,639...2,463,796
Ensembl chr 9:2,621,199...2,653,980 		JBrowse link
G VWF von Willebrand factor ISO RGD PMID:22295953 RGD:7207031 NCBI chr12:6,073,836...6,249,806
Ensembl chr12:5,990,612...6,165,153 		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 chr11:32,349,807...32,398,494
Ensembl chr11:32,238,720...32,287,249 		JBrowse link
G ZMPSTE24 zinc metallopeptidase STE24 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17152860 NCBI chr 1:39,545,264...39,589,721
Ensembl chr 1:40,869,076...40,912,747 		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 ISO RGD PMID:8505110 RGD:12880006 NCBI chr17:57,556,294...57,577,294
Ensembl chr17:62,702,341...62,733,853 		JBrowse link
G ACTN4 actinin alpha 4 ISO ClinVar Annotator: match by term: ACTN4-related condition | ClinVar Annotator: match by term: Focal sclerosis with hyalinosis | ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 1 OMIM
ClinVar		 PMID:9536098 PMID:10700177 PMID:16251236 PMID:17576681 PMID:18594871 More... NCBI chr19:35,742,758...35,825,321
Ensembl chr19:44,313,569...44,395,508 		JBrowse link
G ARHGAP24 Rho GTPase activating protein 24 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 1 ClinVar NCBI chr 4:77,788,074...78,316,357
Ensembl chr 4:88,619,296...89,045,861 		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 chr 1:154,847,978...155,043,339
Ensembl chr 1:158,536,967...158,724,251 		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 chr 6:31,590,135...31,606,368 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 chr19:5,708,211...5,753,178
Ensembl chr19:6,629,287...6,674,699 		JBrowse link
G CD2AP CD2 associated protein ISO ClinVar Annotator: match by term: Focal sclerosis with hyalinosis ClinVar PMID:25741868 NCBI chr 6:47,065,284...47,210,746
Ensembl chr 6:48,328,863...48,474,163 		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 chr 6:31,606,716...31,612,782 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 4:102,236,868...102,311,359
Ensembl chr 4:112,804,645...112,865,581 		JBrowse link
G COL4A4 collagen type IV alpha 4 chain ISO ClinVar Annotator: match by term: Focal sclerosis with hyalinosis ClinVar PMID:21196518 PMID:24854265 PMID:25307543 PMID:25741868 PMID:28492532 More... NCBI chr2B:114,227,135...114,410,564
Ensembl chr2B:233,065,678...233,205,892 		JBrowse link
G CUBN cubilin ISO ClinVar Annotator: match by term: Focal sclerosis with hyalinosis ClinVar PMID:25741868 PMID:28492532 NCBI chr10:17,141,464...17,446,867
Ensembl chr10:17,415,551...17,719,129 		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 8:67,728,057...68,060,069
Ensembl chr 8:69,387,769...69,551,829 		JBrowse link
G INF2 inverted formin 2 ISO ClinVar Annotator: match by term: Focal sclerosis with hyalinosis ClinVar PMID:25741868 PMID:28492532 NCBI chr14:85,339,478...85,366,336
Ensembl chr14:105,145,779...105,163,154 		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 chr19:32,769,592...32,785,045
Ensembl chr19:41,518,306...41,533,467 		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 3:49,045,419...49,057,340
Ensembl chr 3:50,125,460...50,137,074 		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 chr22:17,200,623...17,305,826
Ensembl chr22:35,039,101...35,121,618 		JBrowse link
G MYO9A myosin IXA ISO ClinVar Annotator: match by term: Focal sclerosis with hyalinosis ClinVar PMID:25741868 PMID:33412162 NCBI chr15:50,771,747...51,069,700
Ensembl chr15:69,541,318...69,760,771 		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 chr 1:223,052,307...223,084,736
Ensembl chr 1:228,505,147...228,537,216 		JBrowse link
G NPHP3 nephrocystin 3 ISO ClinVar Annotator: match by term: Focal sclerosis with hyalinosis ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:129,753,399...129,795,300 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 chr 1:155,038,753...155,064,332 JBrowse link
G NUP107 nucleoporin 107 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 1 ClinVar NCBI chr12:66,198,838...66,254,505
Ensembl chr12:68,981,409...69,035,642 		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 chr10:97,344,978...97,429,086
Ensembl chr10:100,822,676...100,904,028 		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 chr10:90,731,695...91,065,846
Ensembl chr10:94,278,550...94,575,024 		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 chr16:7,731,266...7,782,871
Ensembl chr16:8,971,692...9,020,406 		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 chr16:33,836,361...33,939,265
Ensembl chr16:52,920,796...53,023,174 		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 chr 4:47,992,589...48,047,528
Ensembl chr 4:53,830,488...53,886,059 		JBrowse link
G SDCCAG8 SHH signaling and ciliogenesis regulator SDCCAG8 ISO ClinVar Annotator: match by term: Focal sclerosis with hyalinosis ClinVar PMID:25741868 NCBI chr 1:218,856,571...219,107,855
Ensembl chr 1:224,239,009...224,481,132 		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 6:71,404,354...71,477,511
Ensembl chr 6:74,702,447...74,760,557 		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 chr2B:103,672,934...103,743,802
Ensembl chr2B:222,276,353...222,347,258 		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 chr11:96,414,498...96,551,670
Ensembl chr11:99,919,410...100,050,685 		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 | ClinVar Annotator: match by term: TRPC6-related condition OMIM
ClinVar		 PMID:2298509 PMID:10200986 PMID:15879175 PMID:15924139 PMID:16199547 More... NCBI chr11:96,414,498...96,551,670
Ensembl chr11:99,919,410...100,050,685 		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: CD2AP-related condition | ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 3, susceptibility to OMIM
ClinVar		 PMID:9536098 PMID:10514378 PMID:12764198 PMID:17576681 PMID:17713465 More... NCBI chr 6:47,065,284...47,210,746
Ensembl chr 6:48,328,863...48,474,163 		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 Ensembl chr14:105,169,769...105,190,333 JBrowse link
G AHNAK2 AHNAK nucleoprotein 2 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 ClinVar PMID:28492532 NCBI chr14:85,587,016...85,627,319 JBrowse link
G AKT1 AKT serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 ClinVar PMID:28492532 NCBI chr14:85,417,229...85,444,722
Ensembl chr14:105,208,128...105,236,756 		JBrowse link
G BRF1 BRF1 general transcription factor IIIB subunit ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 ClinVar PMID:28492532 NCBI chr14:85,851,908...85,950,489
Ensembl chr14:105,635,757...105,714,465 		JBrowse link
G BTBD6 BTB domain containing 6 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 ClinVar PMID:28492532 NCBI chr14:85,883,988...85,886,491 JBrowse link
G CDCA4 cell division cycle associated 4 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 ClinVar PMID:28492532 NCBI chr14:85,659,022...85,670,182
Ensembl chr14:105,444,672...105,445,397 		JBrowse link
G CEP170B centrosomal protein 170B ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 ClinVar PMID:28492532 NCBI chr14:85,515,684...85,548,410
Ensembl chr14:105,307,591...105,332,523 		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 chr14:85,634,349...85,649,411
Ensembl chr14:105,419,834...105,441,870 		JBrowse link
G GPR132 G protein-coupled receptor 132 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 ClinVar PMID:28492532 NCBI chr14:85,697,589...85,716,764 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 OMIM
ClinVar		 PMID:6054293 PMID:9536098 PMID:16199547 PMID:17576681 PMID:20023659 More... NCBI chr14:85,339,478...85,366,336
Ensembl chr14:105,145,779...105,163,154 		JBrowse link
G JAG2 jagged canonical Notch ligand 2 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 ClinVar PMID:28492532 NCBI chr14:85,785,586...85,812,056
Ensembl chr14:105,569,837...105,585,878 		JBrowse link
G NUDT14 nudix hydrolase 14 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 ClinVar PMID:28492532 NCBI chr14:85,816,561...85,824,887
Ensembl chr14:105,600,783...105,605,538 		JBrowse link
G PACS2 phosphofurin acidic cluster sorting protein 2 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 ClinVar PMID:28492532 NCBI chr14:85,935,807...86,035,935
Ensembl chr14:105,737,878...105,810,349 		JBrowse link
G PLD4 phospholipase D family member 4 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 ClinVar PMID:28492532 NCBI chr14:85,574,724...85,587,176
Ensembl chr14:105,360,584...105,369,247 		JBrowse link
G SIVA1 SIVA1 apoptosis inducing factor ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 ClinVar PMID:28492532 NCBI chr14:85,404,148...85,408,254
Ensembl chr14:105,196,118...105,202,678 		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 chr14:85,449,536...85,453,692
Ensembl chr14:105,243,998...105,245,266 		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 chr15:38,176,451...38,179,189
Ensembl chr15:56,484,343...56,485,488 		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 chr15:38,106,599...38,343,040
Ensembl chr15:56,413,570...56,649,722 		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:3077329 PMID:3377002 PMID:8589702 PMID:9106533 PMID:10466411 More... NCBI chr10:97,344,978...97,429,086
Ensembl chr10:100,822,676...100,904,028 		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 More... NCBI chr 7:37,011,518...37,075,349
Ensembl chr 7:37,243,917...37,304,137 		JBrowse link
G SYNPO synaptopodin ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 8 ClinVar PMID:25741868 PMID:33615071 NCBI chr 5:146,048,956...146,083,490
Ensembl chr 5:152,046,207...152,085,595 		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 9:94,473,423...94,511,285
Ensembl chr 9:123,011,968...123,032,855 		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 chr10:99,242,187...99,256,342
Ensembl chr10:102,707,199...102,720,565 		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 4:113,868,218...113,897,243
Ensembl chr 4:125,006,038...125,034,972 		JBrowse link
G AVIL advillin ISO ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:25741868 PMID:29058690 NCBI chr12:31,108,569...31,129,307
Ensembl chr12:31,369,872...31,389,847 		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 chr 1:154,847,978...155,043,339
Ensembl chr 1:158,536,967...158,724,251 		JBrowse link
G COL4A3 collagen type IV alpha 3 chain ISO ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:25741868 NCBI chr2B:114,410,703...114,559,336
Ensembl chr2B:233,294,783...233,371,021 		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 chr2B:114,227,135...114,410,564
Ensembl chr2B:233,065,678...233,205,892 		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:97,538,978...97,797,019
Ensembl chr  X:108,008,689...108,166,095 		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 9:94,473,423...94,511,285
Ensembl chr 9:123,011,968...123,032,855 		JBrowse link
G FAT1 FAT atypical cadherin 1 ISO ClinVar Annotator: match by term: Familial idiopathic steroid-resistant nephrotic syndrome ClinVar PMID:25615407 PMID:25741868 PMID:26905694 PMID:30862798 NCBI chr 4:178,752,261...178,895,038
Ensembl chr 4:190,952,737...191,093,357 		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 OMIM
ClinVar		 PMID:1523708 PMID:8589695 PMID:8606597 PMID:9536098 PMID:10742096 More... NCBI chr 1:155,038,753...155,064,332 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 chr 5:138,634,278...139,089,171
Ensembl chr 5:144,741,452...144,865,269 		JBrowse link
G NUP205 nucleoporin 205 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26878725 NCBI chr 7:127,525,777...127,620,680
Ensembl chr 7:140,037,092...140,118,983 		JBrowse link
G NUP93 nucleoporin 93 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26878725 NCBI chr16:37,007,481...37,122,785
Ensembl chr16:56,140,546...56,255,561 		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 chr10:97,344,978...97,429,086
Ensembl chr10:100,822,676...100,904,028 		JBrowse link
G PLA2G7 phospholipase A2 group VII disease_progression ISO RGD PMID:9853251 RGD:7248793 NCBI chr 6:46,264,262...46,318,487
Ensembl chr 6:47,558,861...47,590,212 		JBrowse link
G PLCE1 phospholipase C epsilon 1 ISO DNA:mutations: : RGD PMID:20591883 RGD:7257521 NCBI chr10:90,731,695...91,065,846
Ensembl chr10:94,278,550...94,575,024 		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 chr2B:103,672,934...103,743,802
Ensembl chr2B:222,276,353...222,347,258 		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 chr11:96,414,498...96,551,670
Ensembl chr11:99,919,410...100,050,685 		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 chr12:31,123,500...31,154,310
Ensembl chr12:31,404,783...31,415,595
Ensembl chr12:31,404,783...31,415,595 		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 chr11:32,349,807...32,398,494
Ensembl chr11:32,238,720...32,287,249 		JBrowse link
G XPO5 exportin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26878725 NCBI chr 6:43,114,408...43,168,113
Ensembl chr 6:44,406,765...44,458,029 		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:9590287 PMID:9837817 PMID:23687361 PMID:24042019 PMID:25741868 More... NCBI chr 9:97,730,850...97,820,554
Ensembl chr 9:126,240,722...126,322,420 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15834
    Pathological Conditions, Signs and Symptoms 12338
      Pathologic Processes 7779
        Fibrosis 1445
          renal fibrosis 175
            glomerulosclerosis 135
              focal segmental glomerulosclerosis 122
                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 20
Path 2
Term Annotations click to browse term
  disease 15834
    disease of anatomical entity 15490
      Urogenital Diseases 4921
        urinary system disease 2410
          kidney disease 2171
            nephritis 403
              glomerulonephritis 351
                glomerulosclerosis 135
                  focal segmental glomerulosclerosis 122
                    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 20
paths to the root