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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:glomerulosclerosis
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Accession:DOID:0050851 term browser browse the term
Definition:A glomerulonephritis that is characterized by hardening of the glomerulus in the kidney. (DO)
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
glomerulosclerosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACE angiotensin I converting enzyme treatment ISO RGD PMID:21718676 RGD:12879389 NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380 		JBrowse link
G AGER advanced glycosylation end-product specific receptor treatment ISO associated with Diabetic Nephropathies RGD PMID:23046363 PMID:20554645 RGD:7243247, RGD:7244139 NCBI chr 6:32,180,969...32,184,253
Ensembl chr 6:32,180,968...32,184,322 		JBrowse link
G AGTR1 angiotensin II receptor type 1 ISO mRNA:decreased expression:kidney RGD PMID:12495295 RGD:6903859 NCBI chr 3:148,697,903...148,743,003
Ensembl chr 3:148,697,784...148,743,008 		JBrowse link
G AGTR2 angiotensin II receptor type 2 ISO associated with Kidney Failure, Chronic
mRNA:increased expression:kidney		 RGD PMID:20042458 PMID:20631980 PMID:12495295 RGD:6903284, RGD:6903882, RGD:6903859 NCBI chr  X:116,170,744...116,174,974
Ensembl chr  X:116,170,744...116,174,974 		JBrowse link
G APOE apolipoprotein E ISO protein:increased expression:renal glomerulus (rat) RGD PMID:22207560 PMID:21907828 RGD:6903199, RGD:6903285 NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393 		JBrowse link
G COL3A1 collagen type III alpha 1 chain ISO RGD PMID:20610530 RGD:7257557 NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746 		JBrowse link
G ESR2 estrogen receptor 2 susceptibility ISO protein:decreased expression:renal glomerulus (mouse) RGD PMID:12000739 RGD:7364801 NCBI chr14:64,226,707...64,338,613
Ensembl chr14:64,084,232...64,338,112 		JBrowse link
G FBN1 fibrillin 1 ISO associated with Hypertension RGD PMID:16380460 RGD:7365080 NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721 		JBrowse link
G HBEGF heparin binding EGF like growth factor induced IDA RGD PMID:16107576 RGD:1556472 NCBI chr 5:140,332,843...140,346,603
Ensembl chr 5:140,332,843...140,346,603 		JBrowse link
G IL1B interleukin 1 beta ISO associated with Hypertension RGD PMID:19948880 RGD:7175503 NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816 		JBrowse link
G MMP1 matrix metallopeptidase 1 ISO associated with Hyperhomocysteinemia
protein:decreased expression:kidney (rat)		 RGD PMID:20406136 PMID:21275176 RGD:7207203, RGD:7207363 NCBI chr11:102,789,919...102,798,160
Ensembl chr11:102,789,401...102,798,160 		JBrowse link
G MMP9 matrix metallopeptidase 9 ISO associated with Hyperhomocysteinemia
associated with Obesity;mRNA:decreased expression:glomerulus		 RGD PMID:20406136 PMID:9300240 RGD:7207203, RGD:8547929 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561 		JBrowse link
G NPHS1 NPHS1 adhesion molecule, nephrin treatment ISO RGD PMID:22125642 RGD:40902998 NCBI chr19:35,862,915...35,869,357
Ensembl chr19:35,825,964...35,869,287 		JBrowse link
G PLA2G7 phospholipase A2 group VII IMP RGD PMID:16213192 RGD:7248790 NCBI chr 6:46,704,201...46,735,721
Ensembl chr 6:46,704,201...46,735,693 		JBrowse link
G PLEKHA7 pleckstrin homology domain containing A7 ameliorates ISO compared to wild type RGD PMID:25136115 PMID:25136115 RGD:11079199, RGD:11079199 NCBI chr11:16,777,297...17,014,414
Ensembl chr11:16,777,297...17,014,415 		JBrowse link
G PPARG peroxisome proliferator activated receptor gamma treatment ISO RGD PMID:11318962 RGD:8553043 NCBI chr 3:12,287,368...12,434,344
Ensembl chr 3:12,287,368...12,434,356 		JBrowse link
G RGS2 regulator of G protein signaling 2 susceptibility ISO associated with Hypertension RGD PMID:26606876 RGD:13524570 NCBI chr 1:192,809,039...192,812,275
Ensembl chr 1:192,809,039...192,812,275 		JBrowse link
G RNLS renalase, FAD dependent amine oxidase ISO RGD PMID:24022426 RGD:7327155 NCBI chr10:88,171,523...88,583,318
Ensembl chr10:88,273,864...88,584,530 		JBrowse link
G SERPINE1 serpin family E member 1 treatment ISO mRNA, protein:increased expression:kidney (rat) RGD PMID:26999660 PMID:27129290 RGD:11073618, RGD:11073688 NCBI chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247 		JBrowse link
G SHC1 SHC adaptor protein 1 ameliorates ISO compared to SS/JrHsdMcwi RGD PMID:27270176 RGD:12792230 NCBI chr 1:154,962,298...154,974,376
Ensembl chr 1:154,962,298...154,974,395 		JBrowse link
G SLC2A1 solute carrier family 2 member 1 ISO RGD PMID:19918242 RGD:12879501 NCBI chr 1:42,925,353...42,958,868
Ensembl chr 1:42,925,353...42,958,893 		JBrowse link
G SPP1 secreted phosphoprotein 1 ISO RGD PMID:12675855 RGD:6903837 NCBI chr 4:87,975,714...87,983,411
Ensembl chr 4:87,975,667...87,983,532 		JBrowse link
G SYNPO synaptopodin treatment ISO RGD PMID:22125642 RGD:40902998 NCBI chr 5:150,586,010...150,659,207
Ensembl chr 5:150,601,080...150,659,207 		JBrowse link
G TNFRSF1B TNF receptor superfamily member 1B ISO associated with Hypertension RGD PMID:23389459 RGD:7245475 NCBI chr 1:12,166,991...12,209,220
Ensembl chr 1:12,166,991...12,209,228 		JBrowse link
focal segmental glomerulosclerosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACE2 angiotensin converting enzyme 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16723697 NCBI chr  X:15,518,197...15,607,211
Ensembl chr  X:15,494,566...15,607,236 		JBrowse link
G ACTA2 actin alpha 2, smooth muscle EXP CTD Direct Evidence: marker/mechanism CTD PMID:20493835 NCBI chr10:88,935,074...88,991,337
Ensembl chr10:88,935,074...88,991,339 		JBrowse link
G ACTN4 actinin alpha 4 susceptibility IAGP
EXP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
ClinVar Annotator: match by term: Glomerulosclerosis, focal		 CTD
ClinVar
RGD		 PMID:16251236 PMID:18594871 PMID:19142020 PMID:19956976 PMID:21680739 More... RGD:1598731 NCBI chr19:38,647,649...38,731,589
Ensembl chr19:38,647,649...38,731,589 		JBrowse link
G ACTR3 actin related protein 3 ISO DNA:missense mutation:cds:p.L111F (rat)
protein:increased expression:renal glomerulus (rat)		 RGD PMID:18064521 PMID:27251563 RGD:2292230, RGD:11575049 NCBI chr 2:113,889,934...113,962,596
Ensembl chr 2:113,890,063...113,962,596 		JBrowse link
G AGT angiotensinogen ISO
EXP		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:19858406 PMID:21357516 RGD:5129175 NCBI chr 1:230,702,523...230,745,583
Ensembl chr 1:230,690,776...230,745,576 		JBrowse link
G AGTR1 angiotensin II receptor type 1 ISO protein:increased expression:kidney cortex RGD PMID:21357516 RGD:5129175 NCBI chr 3:148,697,903...148,743,003
Ensembl chr 3:148,697,784...148,743,008 		JBrowse link
G AGTR2 angiotensin II receptor type 2 ISO protein:increased expression:kidney cortex RGD PMID:21357516 RGD:5129175 NCBI chr  X:116,170,744...116,174,974
Ensembl chr  X:116,170,744...116,174,974 		JBrowse link
G ANGPT2 angiopoietin 2 ISO mRNA, protein:increased expression:glomerulus (rat) RGD PMID:16628643 RGD:2314213 NCBI chr 8:6,499,632...6,563,245
Ensembl chr 8:6,499,632...6,563,409 		JBrowse link
G ANLN anillin, actin binding protein EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:36,389,862...36,453,791
Ensembl chr 7:36,389,821...36,453,791 		JBrowse link
G APOL1 apolipoprotein L1 EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hyalinosis, Segmental Glomerular		 CTD
ClinVar		 PMID:20635188 PMID:20647424 PMID:20668430 PMID:21997394 PMID:24033266 More... NCBI chr22:36,253,133...36,267,525
Ensembl chr22:36,253,071...36,267,530 		JBrowse link
G ARHGAP24 Rho GTPase activating protein 24 IAGP ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar NCBI chr 4:85,475,150...86,002,666
Ensembl chr 4:85,475,150...86,002,668 		JBrowse link
G ATR ATR serine/threonine kinase IAGP ClinVar Annotator: match by term: Hyalinosis, Segmental Glomerular ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:30976395 NCBI chr 3:142,449,235...142,578,733
Ensembl chr 3:142,449,007...142,578,733 		JBrowse link
G AXDND1 axonemal dynein light chain domain containing 1 IAGP ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar PMID:8589695 PMID:10742096 PMID:11805166 PMID:15253708 PMID:15327385 More... NCBI chr 1:179,365,705...179,554,735
Ensembl chr 1:179,365,720...179,554,735 		JBrowse link
G BDKRB1 bradykinin receptor B1 ISO RGD PMID:21412216 RGD:7175321 NCBI chr14:96,256,210...96,264,763
Ensembl chr14:96,256,210...96,268,967 		JBrowse link
G C2 complement C2 IAGP ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar PMID:2249879 PMID:6308626 PMID:8181962 PMID:16518403 PMID:16936732 More... NCBI chr 6:31,897,783...31,945,672
Ensembl chr 6:31,897,785...31,945,673 		JBrowse link
G C3 complement C3 IAGP ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar PMID:1976733 PMID:7870343 PMID:16687714 PMID:17634448 PMID:17767156 More... NCBI chr19:6,677,704...6,720,650
Ensembl chr19:6,677,704...6,730,562 		JBrowse link
G CASP9 caspase 9 treatment ISO RGD PMID:28245472 RGD:13782344 NCBI chr 1:15,491,401...15,524,912
Ensembl chr 1:15,490,832...15,526,534 		JBrowse link
G CAT catalase ISO RGD PMID:22443450 RGD:7205647 NCBI chr11:34,438,934...34,472,060
Ensembl chr11:34,438,934...34,472,060 		JBrowse link
G CCL11 C-C motif chemokine ligand 11 treatment ISO RGD PMID:22427838 RGD:7247740 NCBI chr17:34,285,742...34,288,334
Ensembl chr17:34,285,742...34,288,334 		JBrowse link
G CCL3 C-C motif chemokine ligand 3 IEP RGD PMID:17684420 RGD:7241818 NCBI chr17:36,088,256...36,090,143
Ensembl chr17:36,088,256...36,090,169 		JBrowse link
G CCN2 cellular communication network factor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17121042 NCBI chr 6:131,948,176...131,951,372
Ensembl chr 6:131,948,176...131,951,372 		JBrowse link
G CD2AP CD2 associated protein IAGP
EXP		 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 6:47,477,789...47,627,263
Ensembl chr 6:47,477,789...47,627,263 		JBrowse link
G CFB complement factor B ISO
IAGP		 ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar
RGD		 PMID:2249879 PMID:6308626 PMID:8181962 PMID:16518403 PMID:16936732 More... RGD:7242704 NCBI chr 6:31,946,095...31,952,084
Ensembl chr 6:31,945,650...31,952,086 		JBrowse link
G CFH complement factor H IAGP ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar PMID:8072530 PMID:15870199 PMID:16299065 PMID:17089378 PMID:17947292 More... NCBI chr 1:196,652,043...196,747,504
Ensembl chr 1:196,651,754...196,752,476 		JBrowse link
G CFI complement factor I IAGP ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar PMID:18825487 PMID:25741868 PMID:28492532 NCBI chr 4:109,730,982...109,801,999
Ensembl chr 4:109,731,008...109,802,150 		JBrowse link
G CMAS cytidine monophosphate N-acetylneuraminic acid synthetase ISS MouseDO NCBI chr12:22,046,218...22,065,668
Ensembl chr12:22,046,218...22,065,674 		JBrowse link
G COL4A1 collagen type IV alpha 1 chain EXP CTD Direct Evidence: marker/mechanism CTD PMID:16191423 PMID:18682491 NCBI chr13:110,148,963...110,307,157
Ensembl chr13:110,148,963...110,307,157 		JBrowse link
G COL4A3 collagen type IV alpha 3 chain IAGP ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar PMID:14871398 PMID:17216251 PMID:18385178 PMID:24033266 PMID:24854265 More... NCBI chr 2:227,164,624...227,314,792
Ensembl chr 2:227,164,624...227,314,792 		JBrowse link
G COL4A4 collagen type IV alpha 4 chain IAGP ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar PMID:12028435 PMID:15618242 PMID:17396119 PMID:19129241 PMID:20029656 More... NCBI chr 2:226,967,360...227,164,488
Ensembl chr 2:227,002,714...227,164,453 		JBrowse link
G COL4A5 collagen type IV alpha 5 chain IAGP ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar PMID:8648925 PMID:9195222 PMID:10561141 PMID:10752524 PMID:14514738 More... NCBI chr  X:108,439,838...108,697,545
Ensembl chr  X:108,439,838...108,697,545 		JBrowse link
G COQ2 coenzyme Q2, polyprenyltransferase IAGP ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 4:83,263,824...83,285,134
Ensembl chr 4:83,261,536...83,284,914 		JBrowse link
G COQ8B coenzyme Q8B IAGP ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar NCBI chr19:40,691,530...40,716,886
Ensembl chr19:40,691,514...40,725,784 		JBrowse link
G CRB2 crumbs cell polarity complex component 2 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:123,354,065...123,380,326
Ensembl chr 9:123,356,170...123,380,324 		JBrowse link
G EDN1 endothelin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16191423 NCBI chr 6:12,256,484...12,297,194
Ensembl chr 6:12,290,361...12,297,194 		JBrowse link
G EYA1 EYA transcriptional coactivator and phosphatase 1 IAGP ClinVar Annotator: match by term: Glomerulosclerosis, focal ClinVar PMID:10991693 PMID:24033266 PMID:25741868 PMID:31049720 NCBI chr 8:71,197,433...71,548,094
Ensembl chr 8:71,197,433...71,592,025 		JBrowse link
G FN1 fibronectin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16191423 NCBI chr 2:215,360,865...215,436,068
Ensembl chr 2:215,360,440...215,436,073 		JBrowse link
G GNAQ G protein subunit alpha q EXP CTD Direct Evidence: marker/mechanism CTD PMID:16267159 NCBI chr 9:77,716,097...78,031,811
Ensembl chr 9:77,716,097...78,031,811 		JBrowse link
G HAVCR1 hepatitis A virus cellular receptor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19225054 NCBI chr 5:157,029,413...157,069,407
Ensembl chr 5:157,026,742...157,069,396 		JBrowse link
G HR HR lysine demethylase and nuclear receptor corepressor ISO RGD PMID:21325752 RGD:150520024 NCBI chr 8:22,114,419...22,131,052
Ensembl chr 8:22,114,419...22,133,384 		JBrowse link
G HSPB1 heat shock protein family B (small) member 1 IEP protein:increased expression:glomerulus, podocyte: RGD PMID:21931298 RGD:10402764 NCBI chr 7:76,302,673...76,304,292
Ensembl chr 7:76,302,673...76,304,295 		JBrowse link
G IL1B interleukin 1 beta ISO RGD PMID:21412216 RGD:7175321 NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816 		JBrowse link
G INF2 inverted formin 2 EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis		 CTD
ClinVar		 PMID:20023659 PMID:21866090 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr14:104,689,618...104,722,535
Ensembl chr14:104,681,146...104,722,535 		JBrowse link
G ITGB3 integrin subunit beta 3 ISO RGD PMID:21804539 RGD:6907385 NCBI chr17:47,253,827...47,313,743
Ensembl chr17:47,253,827...47,313,743 		JBrowse link
G KIRREL2 kirre like nephrin family adhesion molecule 2 IAGP ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar PMID:19406966 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr19:35,851,399...35,867,136
Ensembl chr19:35,855,861...35,867,136 		JBrowse link
G LAMB2 laminin subunit beta 2 IAGP 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 3:49,121,114...49,133,050
Ensembl chr 3:49,121,114...49,133,118 		JBrowse link
G LIPC lipase C, hepatic type ISO protein:reduced expression:serum (rat) RGD PMID:14531811 RGD:2308781 NCBI chr15:58,431,991...58,569,844
Ensembl chr15:58,410,569...58,569,844 		JBrowse link
G LMX1B LIM homeobox transcription factor 1 beta IAGP ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:126,613,928...126,701,032
Ensembl chr 9:126,613,928...126,701,032 		JBrowse link
G LOC107982234 WT1/WT1-AS bi-directional promoter region IAGP ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar PMID:18559874 PMID:18591546 PMID:19171881 PMID:19221039 PMID:19494353 More... NCBI chr11:32,430,848...32,437,423 JBrowse link
G LOC112997540 Sharpr-MPRA regulatory region 13773 IAGP ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 4:83,284,636...83,284,930 JBrowse link
G LPL lipoprotein lipase ISO RGD PMID:14531811 RGD:2308781 NCBI chr 8:19,939,253...19,967,259
Ensembl chr 8:19,901,717...19,967,259 		JBrowse link
G MFF-DT MFF divergent transcript IAGP ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar PMID:14871398 PMID:17216251 PMID:18385178 PMID:24033266 PMID:24854265 More... NCBI chr 2:227,221,052...227,325,164
Ensembl chr 2:227,221,052...227,325,711 		JBrowse link
G MIR193A microRNA 193a ISS OMIM:607832 | OMIM:612551 MouseDO NCBI chr17:31,559,996...31,560,083
Ensembl chr17:31,559,996...31,560,083 		JBrowse link
G MMP2 matrix metallopeptidase 2 ISO mRNA, protein:increased expression, increased activity:kidney RGD PMID:19357873 RGD:2325738 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691 		JBrowse link
G MMP9 matrix metallopeptidase 9 ISO mRNA, protein:increased expression, increased activity:kidney RGD PMID:19357873 RGD:2325738 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561 		JBrowse link
G MPV17 mitochondrial inner membrane protein MPV17 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18818194 NCBI chr 2:27,309,492...27,323,097
Ensembl chr 2:27,309,492...27,325,680 		JBrowse link
G MT-TY mitochondrially encoded tRNA-Tyr (UAU/C) IAGP ClinVar Annotator: match by term: Focal segmental glomerulosclerosis and dilated cardiomyopathy ClinVar PMID:14598342 PMID:31965079 NCBI chr MT:5,826...5,891
Ensembl chr MT:5,826...5,891 		JBrowse link
G MYH10 myosin heavy chain 10 EXP CTD Direct Evidence: marker/mechanism CTD PMID:9678433 NCBI chr17:8,474,212...8,630,725
Ensembl chr17:8,474,207...8,631,376 		JBrowse link
G MYH9 myosin heavy chain 9 ISO
EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis		 CTD
ClinVar
RGD		 PMID:18794856 PMID:19557653 PMID:23144074 PMID:24033266 PMID:25741868 More... RGD:6903254 NCBI chr22:36,281,280...36,387,967
Ensembl chr22:36,281,280...36,388,010 		JBrowse link
G MYO1E myosin IE EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr15:59,132,434...59,372,871
Ensembl chr15:59,132,434...59,372,871 		JBrowse link
G MYO9A myosin IXA ISS
IAGP		 ClinVar Annotator: match by term: Focal segmental glomerulosclerosis MouseDO
ClinVar		 PMID:25741868 PMID:33412162 NCBI chr15:71,822,291...72,118,600
Ensembl chr15:71,822,291...72,118,577 		JBrowse link
G NLRP3 NLR family pyrin domain containing 3 IAGP ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar PMID:12522564 PMID:17509468 PMID:18263599 PMID:18311798 PMID:19319132 More... NCBI chr 1:247,416,077...247,448,817
Ensembl chr 1:247,416,156...247,449,108 		JBrowse link
G NOC3L NOC3 like DNA replication regulator IAGP ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar PMID:25741868 NCBI chr10:94,314,907...94,362,939
Ensembl chr10:94,333,226...94,362,959 		JBrowse link
G NOS2 nitric oxide synthase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16191423 NCBI chr17:27,756,766...27,800,529
Ensembl chr17:27,756,766...27,800,529 		JBrowse link
G NPHP1 nephrocystin 1 IAGP ClinVar Annotator: match by term: Glomerulosclerosis, focal ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:110,123,348...110,205,013
Ensembl chr 2:110,122,311...110,205,066 		JBrowse link
G NPHP3 nephrocystin 3 IAGP ClinVar Annotator: match by term: Glomerulosclerosis, focal ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:132,680,609...132,722,409
Ensembl chr 3:132,680,609...132,722,432 		JBrowse link
G NPHP3-ACAD11 NPHP3-ACAD11 readthrough (NMD candidate) IAGP ClinVar Annotator: match by term: Glomerulosclerosis, focal ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:132,558,138...132,722,459
Ensembl chr 3:132,558,142...132,722,459 		JBrowse link
G NPHP4 nephrocystin 4 IAGP ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:5,862,811...5,992,425
Ensembl chr 1:5,862,811...5,992,473 		JBrowse link
G NPHS1 NPHS1 adhesion molecule, nephrin disease_progression IEP mRNA:increased expression:urine (human)
protein:decreased expression:kidney,renal glomerulus (human)		 RGD PMID:21414970 PMID:30900988 RGD:38549367, RGD:15023481 NCBI chr19:35,862,915...35,869,357
Ensembl chr19:35,825,964...35,869,287 		JBrowse link
G NPHS1 NPHS1 adhesion molecule, nephrin EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis		 CTD
ClinVar		 PMID:9915943 PMID:10652016 PMID:11317351 PMID:11726550 PMID:11854170 More... NCBI chr19:35,825,372...35,852,504
Ensembl chr19:35,825,372...35,869,287 		JBrowse link
G NPHS2 NPHS2 stomatin family member, podocin EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis		 CTD
ClinVar		 PMID:1523708 PMID:8589695 PMID:10742096 PMID:11805166 PMID:11805168 More... NCBI chr 1:179,550,539...179,575,948
Ensembl chr 1:179,550,539...179,575,952 		JBrowse link
G NUP93 nucleoporin 93 IAGP ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar PMID:32581362 NCBI chr16:56,730,129...56,850,286
Ensembl chr16:56,730,118...56,850,286 		JBrowse link
G NXF5 nuclear RNA export factor 5 IAGP ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar PMID:23686279 NCBI chr  X:101,832,112...101,857,577
Ensembl chr  X:101,832,537...101,843,278 		JBrowse link
G PAX2 paired box 2 EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis		 CTD
ClinVar		 PMID:3377002 PMID:8589702 PMID:9106533 PMID:11093271 PMID:11241473 More... NCBI chr10:100,735,396...100,829,944
Ensembl chr10:100,735,396...100,829,944 		JBrowse link
G PCNA proliferating cell nuclear antigen EXP CTD Direct Evidence: marker/mechanism CTD PMID:17121042 NCBI chr20:5,114,953...5,126,622
Ensembl chr20:5,114,953...5,126,626 		JBrowse link
G PDSS2 decaprenyl diphosphate synthase subunit 2 IAGP ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:107,152,562...107,459,564
Ensembl chr 6:107,152,562...107,459,564 		JBrowse link
G PIAS1 protein inhibitor of activated STAT 1 ISO RGD PMID:19350281 RGD:8693412 NCBI chr15:68,054,315...68,193,847
Ensembl chr15:68,054,309...68,198,603 		JBrowse link
G PLCE1 phospholipase C epsilon 1 IAGP ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar PMID:18975016 PMID:20507940 PMID:25060053 PMID:25741868 PMID:26467025 More... NCBI chr10:93,993,931...94,332,823
Ensembl chr10:93,993,931...94,332,823 		JBrowse link
G PLCE1-AS1 PLCE1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar PMID:25741868 PMID:28492532 NCBI chr10:94,279,290...94,287,070
Ensembl chr10:94,278,681...94,287,478 		JBrowse link
G PPP3CA protein phosphatase 3 catalytic subunit alpha IEP RGD PMID:26436650 RGD:13515117 NCBI chr 4:101,023,418...101,347,526
Ensembl chr 4:101,023,409...101,348,278 		JBrowse link
G PPP3CB protein phosphatase 3 catalytic subunit beta IEP RGD PMID:26436650 RGD:13515117 NCBI chr10:73,436,433...73,496,024
Ensembl chr10:73,436,433...73,496,024 		JBrowse link
G RAP1GAP RAP1 GTPase activating protein IEP mRNA:increased expression:renal glomerulus (human) RGD PMID:24642466 RGD:9835343 NCBI chr 1:21,596,221...21,669,357
Ensembl chr 1:21,596,221...21,669,357 		JBrowse link
G REG1A regenerating family member 1 alpha IAGP ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar PMID:25741868 NCBI chr 2:79,120,488...79,123,409
Ensembl chr 2:79,120,362...79,123,409 		JBrowse link
G RPGRIP1L RPGRIP1 like IAGP ClinVar Annotator: match by term: Glomerulosclerosis, focal ClinVar PMID:19430481 PMID:20301500 PMID:25741868 PMID:28492532 NCBI chr16:53,598,153...53,703,859
Ensembl chr16:53,598,153...53,703,938 		JBrowse link
G SCARB2 scavenger receptor class B member 2 IAGP ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar PMID:25088547 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 4:76,158,737...76,234,532
Ensembl chr 4:76,158,737...76,234,536 		JBrowse link
G SDCCAG8 SHH signaling and ciliogenesis regulator SDCCAG8 IAGP ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar PMID:25741868 NCBI chr 1:243,256,041...243,500,091
Ensembl chr 1:243,256,034...243,500,091 		JBrowse link
G SERPINE1 serpin family E member 1 treatment ISO
EXP		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:18682491 PMID:22303720 RGD:13208548 NCBI chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247 		JBrowse link
G SHH sonic hedgehog signaling molecule IEP RGD PMID:24744439 RGD:12859042 NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463 		JBrowse link
G SLC17A5 solute carrier family 17 member 5 IAGP ClinVar Annotator: match by term: Glomerulosclerosis, focal ClinVar PMID:25741868 PMID:28492532 PMID:29140481 NCBI chr 6:73,593,379...73,653,992
Ensembl chr 6:73,593,379...73,653,992 		JBrowse link
G SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 IAGP ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:216,412,484...216,483,053
Ensembl chr 2:216,412,383...216,483,053 		JBrowse link
G SPP1 secreted phosphoprotein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:9294829 NCBI chr 4:87,975,714...87,983,411
Ensembl chr 4:87,975,667...87,983,532 		JBrowse link
G SREBF2 sterol regulatory element binding transcription factor 2 ISO RGD PMID:16316337 RGD:1581416 NCBI chr22:41,833,105...41,907,305
Ensembl chr22:41,833,079...41,907,307 		JBrowse link
G SRGAP1 SLIT-ROBO Rho GTPase activating protein 1 ISS MouseDO NCBI chr12:63,844,700...64,162,217
Ensembl chr12:63,843,761...64,162,217 		JBrowse link
G TGFB1 transforming growth factor beta 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16191423 PMID:18682491 PMID:20493835 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922 		JBrowse link
G TMEM63C transmembrane protein 63C IEP protein:decreased expression:kidney,renal glomerulus (human) RGD PMID:30900988 RGD:15023481 NCBI chr14:77,181,798...77,259,495
Ensembl chr14:77,116,568...77,259,495 		JBrowse link
G TNF tumor necrosis factor ISO protein:increased expression:serum RGD PMID:21221075 RGD:7245511 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336 		JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A ISO protein:increased expression:serum RGD PMID:21221075 RGD:7245511 NCBI chr12:6,328,771...6,342,076
Ensembl chr12:6,328,757...6,342,114 		JBrowse link
G TNFRSF1B TNF receptor superfamily member 1B ISO protein:increased expression:serum RGD PMID:21221075 RGD:7245511 NCBI chr 1:12,166,991...12,209,220
Ensembl chr 1:12,166,991...12,209,228 		JBrowse link
G TRPC6 transient receptor potential cation channel subfamily C member 6 treatment ISO
IAGP
EXP		 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 chr11:101,451,564...101,584,007
Ensembl chr11:101,451,564...101,872,562 		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 9:2,621,787...2,660,056
Ensembl chr 9:2,621,182...2,660,056 		JBrowse link
G VWF von Willebrand factor IEP RGD PMID:22295953 RGD:7207031 NCBI chr12:5,948,877...6,124,670
Ensembl chr12:5,948,877...6,124,770 		JBrowse link
G WT1 WT1 transcription factor IAGP ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar PMID:7795587 PMID:8388765 PMID:9108089 PMID:9531607 PMID:10571943 More... NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564 		JBrowse link
G ZMPSTE24 zinc metallopeptidase STE24 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17152860 NCBI chr 1:40,258,236...40,294,180
Ensembl chr 1:40,258,041...40,294,180 		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 chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380 		JBrowse link
G ACTN4 actinin alpha 4 IAGP ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 1 OMIM
ClinVar		 PMID:10700177 PMID:16251236 PMID:18594871 PMID:19142020 PMID:19956976 More... NCBI chr19:38,647,649...38,731,589
Ensembl chr19:38,647,649...38,731,589 		JBrowse link
G ARHGAP24 Rho GTPase activating protein 24 IAGP ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 1 ClinVar NCBI chr 4:85,475,150...86,002,666
Ensembl chr 4:85,475,150...86,002,668 		JBrowse link
G C2 complement C2 IAGP ClinVar Annotator: match by term: Focal sclerosis with hyalinosis ClinVar PMID:2249879 PMID:6308626 PMID:8181962 PMID:16518403 PMID:16936732 More... NCBI chr 6:31,897,783...31,945,672
Ensembl chr 6:31,897,785...31,945,673 		JBrowse link
G C3 complement C3 IAGP ClinVar Annotator: match by term: Focal sclerosis with hyalinosis ClinVar PMID:1976733 PMID:17634448 PMID:18325906 PMID:19168221 PMID:25741868 More... NCBI chr19:6,677,704...6,720,650
Ensembl chr19:6,677,704...6,730,562 		JBrowse link
G CFB complement factor B IAGP ClinVar Annotator: match by term: Focal sclerosis with hyalinosis ClinVar PMID:2249879 PMID:6308626 PMID:8181962 PMID:16518403 PMID:16936732 More... NCBI chr 6:31,946,095...31,952,084
Ensembl chr 6:31,945,650...31,952,086 		JBrowse link
G CFI complement factor I IAGP ClinVar Annotator: match by term: Focal sclerosis with hyalinosis ClinVar PMID:18825487 PMID:25741868 PMID:28492532 NCBI chr 4:109,730,982...109,801,999
Ensembl chr 4:109,731,008...109,802,150 		JBrowse link
G EYA1 EYA transcriptional coactivator and phosphatase 1 IAGP ClinVar Annotator: match by term: Focal sclerosis with hyalinosis ClinVar PMID:10991693 PMID:24033266 PMID:25741868 PMID:31049720 NCBI chr 8:71,197,433...71,548,094
Ensembl chr 8:71,197,433...71,592,025 		JBrowse link
G LAMB2 laminin subunit beta 2 IAGP ClinVar Annotator: match by term: Focal sclerosis with hyalinosis ClinVar PMID:20556798 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 3:49,121,114...49,133,050
Ensembl chr 3:49,121,114...49,133,118 		JBrowse link
G MYH9 myosin heavy chain 9 IAGP ClinVar Annotator: match by term: Focal sclerosis with hyalinosis ClinVar PMID:19557653 PMID:23144074 PMID:24033266 PMID:25741868 PMID:26346198 More... NCBI chr22:36,281,280...36,387,967
Ensembl chr22:36,281,280...36,388,010 		JBrowse link
G NLRP3 NLR family pyrin domain containing 3 IAGP ClinVar Annotator: match by term: Focal sclerosis with hyalinosis ClinVar PMID:12522564 PMID:17509468 PMID:18263599 PMID:18311798 PMID:19319132 More... NCBI chr 1:247,416,077...247,448,817
Ensembl chr 1:247,416,156...247,449,108 		JBrowse link
G NPHP1 nephrocystin 1 IAGP ClinVar Annotator: match by term: Focal sclerosis with hyalinosis ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:110,123,348...110,205,013
Ensembl chr 2:110,122,311...110,205,066 		JBrowse link
G NPHP3 nephrocystin 3 IAGP ClinVar Annotator: match by term: Focal sclerosis with hyalinosis ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:132,680,609...132,722,409
Ensembl chr 3:132,680,609...132,722,432 		JBrowse link
G NPHP3-ACAD11 NPHP3-ACAD11 readthrough (NMD candidate) IAGP ClinVar Annotator: match by term: Focal sclerosis with hyalinosis ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:132,558,138...132,722,459
Ensembl chr 3:132,558,142...132,722,459 		JBrowse link
G NUP107 nucleoporin 107 IAGP ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 1 ClinVar NCBI chr12:68,686,978...68,745,809
Ensembl chr12:68,686,951...68,745,809 		JBrowse link
G PAX2 paired box 2 IAGP ClinVar Annotator: match by term: Focal sclerosis with hyalinosis ClinVar PMID:3377002 PMID:8589702 PMID:9106533 PMID:11093271 PMID:11241473 More... NCBI chr10:100,735,396...100,829,944
Ensembl chr10:100,735,396...100,829,944 		JBrowse link
G PLCE1 phospholipase C epsilon 1 IAGP ClinVar Annotator: match by term: Focal sclerosis with hyalinosis ClinVar PMID:25741868 PMID:28492532 NCBI chr10:93,993,931...94,332,823
Ensembl chr10:93,993,931...94,332,823 		JBrowse link
G RPGRIP1L RPGRIP1 like IAGP ClinVar Annotator: match by term: Focal sclerosis with hyalinosis ClinVar PMID:19430481 PMID:20301500 PMID:25741868 PMID:28492532 NCBI chr16:53,598,153...53,703,859
Ensembl chr16:53,598,153...53,703,938 		JBrowse link
G SLC17A5 solute carrier family 17 member 5 IAGP ClinVar Annotator: match by term: Focal sclerosis with hyalinosis ClinVar PMID:25741868 PMID:28492532 PMID:29140481 NCBI chr 6:73,593,379...73,653,992
Ensembl chr 6:73,593,379...73,653,992 		JBrowse link
G TRPC6 transient receptor potential cation channel subfamily C member 6 IAGP ClinVar Annotator: match by term: Focal sclerosis with hyalinosis ClinVar PMID:25741868 PMID:28492532 NCBI chr11:101,451,564...101,584,007
Ensembl chr11:101,451,564...101,872,562 		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 IAGP ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 2 ClinVar
OMIM		 PMID:2298509 PMID:10200986 PMID:15879175 PMID:15924139 PMID:16932363 More... NCBI chr11:101,451,564...101,584,007
Ensembl chr11:101,451,564...101,872,562 		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 IAGP ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 3, susceptibility to OMIM
ClinVar		 PMID:10514378 PMID:17713465 PMID:18443213 PMID:19131354 PMID:22971997 More... NCBI chr 6:47,477,789...47,627,263
Ensembl chr 6:47,477,789...47,627,263 		JBrowse link
Focal Segmental Glomerulosclerosis 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APOL1 apolipoprotein L1 susceptibility IAGP ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 4, susceptibility to OMIM
ClinVar		 PMID:20635188 PMID:20647424 PMID:20668430 PMID:21997394 PMID:24033266 More... NCBI chr22:36,253,133...36,267,525
Ensembl chr22:36,253,071...36,267,530 		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 IAGP ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 ClinVar PMID:28492532 NCBI chr14:104,724,229...104,747,325
Ensembl chr14:104,724,229...104,747,325 		JBrowse link
G AHNAK2 AHNAK nucleoprotein 2 IAGP ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 ClinVar PMID:28492532 NCBI chr14:104,937,253...104,978,374
Ensembl chr14:104,937,244...104,978,374 		JBrowse link
G AKT1 AKT serine/threonine kinase 1 IAGP ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 ClinVar PMID:28492532 NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,751 		JBrowse link
G BRF1 BRF1 RNA polymerase III transcription initiation factor subunit IAGP ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 ClinVar PMID:28492532 NCBI chr14:105,209,286...105,315,589
Ensembl chr14:105,209,286...105,315,589 		JBrowse link
G BTBD6 BTB domain containing 6 IAGP ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 ClinVar PMID:28492532 NCBI chr14:105,248,533...105,251,093
Ensembl chr14:105,248,533...105,251,093 		JBrowse link
G CDCA4 cell division cycle associated 4 IAGP ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 ClinVar PMID:28492532 NCBI chr14:105,009,573...105,021,083
Ensembl chr14:105,009,573...105,021,083 		JBrowse link
G CEP170B centrosomal protein 170B IAGP ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 ClinVar PMID:28492532 NCBI chr14:104,864,513...104,896,747
Ensembl chr14:104,865,268...104,896,747 		JBrowse link
G CLBA1 clathrin binding box of aftiphilin containing 1 IAGP ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 ClinVar PMID:28492532 NCBI chr14:104,985,788...105,001,274
Ensembl chr14:104,985,775...105,010,482 		JBrowse link
G GPR132 G protein-coupled receptor 132 IAGP ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 ClinVar PMID:28492532 NCBI chr14:105,049,395...105,065,430
Ensembl chr14:105,049,395...105,065,445 		JBrowse link
G INF2 inverted formin 2 IAGP ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 ClinVar
OMIM		 PMID:6054293 PMID:9536098 PMID:17576681 PMID:20023659 PMID:20803156 More... NCBI chr14:104,689,618...104,722,535
Ensembl chr14:104,681,146...104,722,535 		JBrowse link
G JAG2 jagged canonical Notch ligand 2 IAGP ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 ClinVar PMID:28492532 NCBI chr14:105,140,995...105,168,776
Ensembl chr14:105,140,982...105,168,824 		JBrowse link
G NUDT14 nudix hydrolase 14 IAGP ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 ClinVar PMID:28492532 NCBI chr14:105,172,939...105,181,312
Ensembl chr14:105,172,938...105,181,323 		JBrowse link
G PACS2 phosphofurin acidic cluster sorting protein 2 IAGP ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 ClinVar PMID:28492532 NCBI chr14:105,300,774...105,398,147
Ensembl chr14:105,300,563...105,398,147 		JBrowse link
G PLD4 phospholipase D family member 4 IAGP ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 ClinVar PMID:28492532 NCBI chr14:104,924,879...104,937,785
Ensembl chr14:104,924,713...104,937,761 		JBrowse link
G SIVA1 SIVA1 apoptosis inducing factor IAGP ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 ClinVar PMID:28492532 NCBI chr14:104,753,147...104,759,654
Ensembl chr14:104,753,147...104,768,494 		JBrowse link
G ZBTB42 zinc finger and BTB domain containing 42 IAGP ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 ClinVar PMID:28492532 NCBI chr14:104,800,554...104,804,712
Ensembl chr14:104,800,596...104,804,712 		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 IAGP ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 6 ClinVar PMID:25741868 NCBI chr15:59,206,843...59,208,588
Ensembl chr15:59,206,843...59,208,588 		JBrowse link
G LOC112272600 Sharpr-MPRA regulatory region 4265 IAGP ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 6 ClinVar PMID:25741868 PMID:28492532 NCBI chr15:59,138,210...59,138,504 JBrowse link
G MYO1E myosin IE IAGP ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 6 ClinVar
OMIM		 PMID:9536098 PMID:17576681 PMID:21756023 PMID:25741868 PMID:28492532 More... NCBI chr15:59,132,434...59,372,871
Ensembl chr15:59,132,434...59,372,871 		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 IAGP ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 7 ClinVar
OMIM		 PMID:3377002 PMID:8589702 PMID:9106533 PMID:11093271 PMID:11241473 More... NCBI chr10:100,735,396...100,829,944
Ensembl chr10:100,735,396...100,829,944 		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 IAGP ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 8 OMIM
ClinVar		 PMID:24676636 PMID:25741868 PMID:28492532 PMID:29869118 NCBI chr 7:36,389,862...36,453,791
Ensembl chr 7:36,389,821...36,453,791 		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 IAGP ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 9 ClinVar
OMIM		 PMID:25557779 PMID:25741868 PMID:27004616 PMID:28492532 PMID:32581362 More... NCBI chr 9:123,354,065...123,380,326
Ensembl chr 9:123,356,170...123,380,324 		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 IAGP ClinVar Annotator: match by term: FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis and neurodevelopmental syndrome		 OMIM
ClinVar		 PMID:25741868 PMID:27346735 PMID:30244534 PMID:32193649 PMID:32531461 More... NCBI chr10:102,644,479...102,658,319
Ensembl chr10:102,644,479...102,658,318 		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 IEP protein:increased expression:urine RGD PMID:17999093 RGD:7242031 NCBI chr 4:121,667,946...121,696,980
Ensembl chr 4:121,667,946...121,696,995 		JBrowse link
G AVIL advillin IAGP ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:25741868 PMID:29058690 NCBI chr12:57,797,380...57,818,734
Ensembl chr12:57,797,376...57,818,734 		JBrowse link
G AXDND1 axonemal dynein light chain domain containing 1 IAGP ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome
ClinVar Annotator: match by term: Nephrotic syndrome, type 2
ClinVar Annotator: match by term: Nephrotic syndrome, type 2, susceptibility to		 ClinVar PMID:8589695 PMID:9536098 PMID:10742096 PMID:11805166 PMID:12464671 More... NCBI chr 1:179,365,705...179,554,735
Ensembl chr 1:179,365,720...179,554,735 		JBrowse link
G COL4A3 collagen type IV alpha 3 chain IAGP ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:25741868 NCBI chr 2:227,164,624...227,314,792
Ensembl chr 2:227,164,624...227,314,792 		JBrowse link
G COL4A4 collagen type IV alpha 4 chain IAGP ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:226,967,360...227,164,488
Ensembl chr 2:227,002,714...227,164,453 		JBrowse link
G COL4A5 collagen type IV alpha 5 chain IAGP ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:32581362 NCBI chr  X:108,439,838...108,697,545
Ensembl chr  X:108,439,838...108,697,545 		JBrowse link
G CRB2 crumbs cell polarity complex component 2 IAGP ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:25557779 PMID:25741868 PMID:27004616 PMID:28492532 PMID:32581362 NCBI chr 9:123,354,065...123,380,326
Ensembl chr 9:123,356,170...123,380,324 		JBrowse link
G MFF-DT MFF divergent transcript IAGP ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:25741868 NCBI chr 2:227,221,052...227,325,164
Ensembl chr 2:227,221,052...227,325,711 		JBrowse link
G NPHS1 NPHS1 adhesion molecule, nephrin IAGP ClinVar Annotator: match by term: Familial idiopathic steroid-resistant nephrotic syndrome ClinVar PMID:15086927 PMID:15968559 PMID:17211152 PMID:25741868 PMID:28476686 More... NCBI chr19:35,825,372...35,852,504
Ensembl chr19:35,825,372...35,869,287 		JBrowse link
G NPHS2 NPHS2 stomatin family member, podocin IAGP
EXP		 ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome
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: Nephrotic syndrome, idiopathic, steroid-resistant
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:1523708 PMID:8589695 PMID:8606597 PMID:9536098 PMID:10742096 More... NCBI chr 1:179,550,539...179,575,948
Ensembl chr 1:179,550,539...179,575,952 		JBrowse link
G NR3C1 nuclear receptor subfamily 3 group C member 1 IEP mRNA:alternative form:blood, mononuclear cell RGD PMID:20419394 RGD:7174729 NCBI chr 5:143,277,931...143,435,512
Ensembl chr 5:143,277,931...143,435,512 		JBrowse link
G NUP205 nucleoporin 205 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26878725 NCBI chr 7:135,557,917...135,648,753
Ensembl chr 7:135,557,917...135,648,757 		JBrowse link
G NUP93 nucleoporin 93 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26878725 NCBI chr16:56,730,129...56,850,286
Ensembl chr16:56,730,118...56,850,286 		JBrowse link
G PAX2 paired box 2 IAGP ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:3377002 PMID:8589702 PMID:9106533 PMID:11093271 PMID:11241473 More... NCBI chr10:100,735,396...100,829,944
Ensembl chr10:100,735,396...100,829,944 		JBrowse link
G PLA2G7 phospholipase A2 group VII disease_progression IAGP RGD PMID:9853251 RGD:7248793 NCBI chr 6:46,704,201...46,735,721
Ensembl chr 6:46,704,201...46,735,693 		JBrowse link
G PLCE1 phospholipase C epsilon 1 IAGP DNA:mutations: : RGD PMID:20591883 RGD:7257521 NCBI chr10:93,993,931...94,332,823
Ensembl chr10:93,993,931...94,332,823 		JBrowse link
G TRPC6 transient receptor potential cation channel subfamily C member 6 IAGP DNA:missense mutations, SNPs:exon, intron:multiple RGD PMID:21511817 RGD:7247446 NCBI chr11:101,451,564...101,584,007
Ensembl chr11:101,451,564...101,872,562 		JBrowse link
G TSFM Ts translation elongation factor, mitochondrial IAGP ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:25741868 PMID:29058690 NCBI chr12:57,782,787...57,802,856
Ensembl chr12:57,782,761...57,808,071 		JBrowse link
G WT1 WT1 transcription factor IAGP 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 chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564 		JBrowse link
G XPO5 exportin 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26878725 NCBI chr 6:43,522,334...43,576,038
Ensembl chr 6:43,522,334...43,576,038 		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 IAGP 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 9:126,613,928...126,701,032
Ensembl chr 9:126,613,928...126,701,032 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 26240
    Pathological Conditions, Signs and Symptoms 15731
      Pathologic Processes 9784
        Fibrosis 1519
          renal fibrosis 180
            glomerulosclerosis 143
              focal segmental glomerulosclerosis + 129
Path 2
Term Annotations click to browse term
  disease 26240
    disease of anatomical entity 21584
      Urogenital Diseases 5469
        urinary system disease 2390
          kidney disease 2151
            nephritis 421
              glomerulonephritis 370
                glomerulosclerosis 143
                  focal segmental glomerulosclerosis + 129
paths to the root