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
Accession: DOID:1312
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 .
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Ace2
angiotensin converting enzyme 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16723697
NCBI chr X:30,293,597...30,340,961
Ensembl chr X:30,293,589...30,340,977
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Acta2
actin alpha 2, smooth muscle
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20493835
NCBI chr 1:231,746,527...231,759,307
Ensembl chr 1:231,746,548...231,759,554
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Actn4
actinin alpha 4
susceptibility
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:16251236 PMID:18594871 PMID:19142020 PMID:19956976 PMID:21680739 PMID:22732337 PMID:23890478 PMID:24130771 PMID:25741868 PMID:26248470 PMID:26346198 PMID:26467025 PMID:27535533 PMID:28492532 PMID:29869118 PMID:31027891 PMID:31930129 PMID:10700177 More...
RGD:1598731
NCBI chr 1:84,182,783...84,251,867
Ensembl chr 1:84,182,788...84,251,847
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Actr3
actin related protein 3
IAGP IEP
DNA:missense mutation:cds:p.L111F (rat) protein:increased expression:renal glomerulus (rat)
RGD
PMID:18064521 PMID:27251563
RGD:2292230 , RGD:11575049
NCBI chr13:36,800,739...36,843,837
Ensembl chr13:36,800,093...36,844,124
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Agt
angiotensinogen
IEP ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19858406 PMID:21357516
RGD:5129175
NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
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Agtr1a
angiotensin II receptor, type 1a
IEP
protein:increased expression:kidney cortex
RGD
PMID:21357516
RGD:5129175
NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946
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Agtr2
angiotensin II receptor, type 2
IEP
protein:increased expression:kidney cortex
RGD
PMID:21357516
RGD:5129175
NCBI chr X:112,119,876...112,124,060
Ensembl chr X:112,120,228...112,124,057
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Angpt2
angiopoietin 2
IEP
mRNA, protein:increased expression:glomerulus (rat)
RGD
PMID:16628643
RGD:2314213
NCBI chr16:71,088,364...71,138,805
Ensembl chr16:71,088,364...71,138,804
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Anln
anillin, actin binding protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 8:20,858,227...20,921,602
Ensembl chr 8:20,858,228...20,921,538
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Arhgap24
Rho GTPase activating protein 24
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
ClinVar
NCBI chr14:6,800,624...7,183,877
Ensembl chr14:6,800,631...7,183,823
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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 PMID:18823551 PMID:19406966 PMID:20947785 PMID:21355056 PMID:24509478 PMID:24742477 PMID:25741868 PMID:28492532 PMID:30655312 PMID:32581362 More...
NCBI chr13:68,471,957...68,544,788
Ensembl chr13:68,458,411...68,544,172
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Bdkrb1
bradykinin receptor B1
ISO
RGD
PMID:21412216
RGD:7175321
NCBI chr 6:124,510,827...124,514,475
Ensembl chr 6:124,510,870...124,513,747
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C2
complement C2
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
ClinVar
PMID:2249879 PMID:6308626 PMID:8181962 PMID:16518403 PMID:16936732 PMID:18806293 PMID:21541267 PMID:24033266 PMID:25741868 PMID:28492532 More...
NCBI chr20:3,951,474...3,970,376
Ensembl chr20:3,951,474...3,976,505
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C3
complement C3
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
ClinVar
PMID:1976733 PMID:7870343 PMID:16687714 PMID:17634448 PMID:17767156 PMID:18325906 PMID:19168221 PMID:19259132 PMID:20664795 PMID:21576320 PMID:22718507 PMID:23112567 PMID:23455636 PMID:25741868 PMID:28492532 More...
NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
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Casp9
caspase 9
treatment
IEP
RGD
PMID:28245472
RGD:13782344
NCBI chr 5:154,108,872...154,126,628
Ensembl chr 5:154,109,046...154,126,626
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Cat
catalase
ISO
RGD
PMID:22443450
RGD:7205647
NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
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Ccl11
C-C motif chemokine ligand 11
treatment
ISO
RGD
PMID:22427838
RGD:7247740
NCBI chr10:67,028,328...67,032,929
Ensembl chr10:67,028,328...67,032,926
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Ccl3
C-C motif chemokine ligand 3
ISO
RGD
PMID:17684420
RGD:7241818
NCBI chr10:68,451,388...68,452,938
Ensembl chr10:68,451,388...68,452,938
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Ccn2
cellular communication network factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17121042
NCBI chr 1:20,802,199...20,805,315
Ensembl chr 1:20,802,199...20,805,734
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Cd2ap
CD2-associated protein
ISO
FSGS3, OMIM:607832, DNA:splice-site mutaton ClinVar Annotator: match by term: Focal segmental glomerulosclerosis CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:25741868 PMID:28492532 PMID:12764198
RGD:1600628
NCBI chr 9:18,086,744...18,182,744
Ensembl chr 9:18,086,984...18,182,199
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Cfb
complement factor B
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
ClinVar RGD
PMID:2249879 PMID:6308626 PMID:8181962 PMID:16518403 PMID:16936732 PMID:18806293 PMID:21541267 PMID:24033266 PMID:25741868 PMID:28492532 PMID:17522263 More...
RGD:7242704
NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505
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Cfh
complement factor H
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
ClinVar
PMID:8072530 PMID:15870199 PMID:16299065 PMID:17089378 PMID:17947292 PMID:18252712 PMID:19259132 PMID:21909106 PMID:25741868 PMID:28492532 PMID:34189567 PMID:35925583 More...
NCBI chr13:51,512,376...51,613,829
Ensembl chr13:51,511,828...51,613,838
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Cfi
complement factor I
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
ClinVar
PMID:18825487 PMID:25741868 PMID:28492532
NCBI chr 2:218,389,079...218,430,565
Ensembl chr 2:218,387,990...218,430,561
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Cmas
cytidine monophosphate N-acetylneuraminic acid synthetase
ISS
MouseDO
NCBI chr 4:175,718,808...175,737,128
Ensembl chr 4:175,718,808...175,737,125
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Col4a1
collagen type IV alpha 1 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16191423 PMID:18682491
NCBI chr16:78,183,533...78,294,412
Ensembl chr16:78,183,533...78,294,412
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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 PMID:25741868 PMID:26346198 PMID:26467025 PMID:28492532 PMID:29924831 PMID:30245029 More...
NCBI chr 9:83,875,849...84,004,955
Ensembl chr 9:83,875,561...84,001,895
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Col4a4
collagen type IV alpha 4 chain
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
ClinVar
PMID:12028435 PMID:15618242 PMID:17396119 PMID:19129241 PMID:20029656 PMID:21196518 PMID:24033266 PMID:24052634 PMID:24522496 PMID:24854265 PMID:25307543 PMID:25514610 PMID:25741868 PMID:26467025 PMID:26809805 PMID:27281700 PMID:28492532 PMID:31049720 PMID:31922066 More...
NCBI chr 9:83,833,173...83,875,436
Ensembl chr 9:83,755,515...83,875,876
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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 PMID:14993485 PMID:15780079 PMID:21505094 PMID:24033266 PMID:24854265 PMID:25741868 PMID:26809805 PMID:27281700 PMID:28492532 PMID:28844315 More...
NCBI chr X:105,118,762...105,322,699
Ensembl chr X:105,118,820...105,322,692
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Coq2
coenzyme Q2, polyprenyltransferase
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
ClinVar
PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr14:8,941,429...8,961,418
Ensembl chr14:8,941,461...8,960,891
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Coq8b
coenzyme Q8B
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
ClinVar
PMID:25741868 PMID:32543055
NCBI chr 1:82,525,578...82,549,182
Ensembl chr 1:82,526,568...82,549,180
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Crb2
crumbs cell polarity complex component 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 3:21,542,138...21,564,876
Ensembl chr 3:21,542,221...21,563,294
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Cubn
cubilin
ISO
ClinVar Annotator: match by term: Glomerulosclerosis, focal
ClinVar
PMID:25741868 PMID:28492532
NCBI chr17:76,385,046...76,593,133
Ensembl chr17:76,385,060...76,593,231
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Edn1
endothelin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16191423
NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
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Eya1
EYA transcriptional coactivator and phosphatase 1
ISO
ClinVar Annotator: match by term: Glomerulosclerosis, focal
ClinVar
PMID:10991693 PMID:24033266 PMID:25741868 PMID:31049720
NCBI chr 5:4,863,501...5,101,483
Ensembl chr 5:4,955,543...5,101,483
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Fn1
fibronectin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16191423
NCBI chr 9:73,196,044...73,264,695
Ensembl chr 9:73,196,044...73,264,678
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Gnaq
G protein subunit alpha q
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16267159
NCBI chr 1:213,425,631...213,671,947
Ensembl chr 1:213,424,465...213,667,672
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Havcr1
hepatitis A virus cellular receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19225054
NCBI chr10:31,118,667...31,151,730
Ensembl chr10:31,119,088...31,151,698
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Hr
HR, lysine demethylase and nuclear receptor corepressor
IMP
RGD
PMID:21325752
RGD:150520024
NCBI chr15:45,626,835...45,646,313
Ensembl chr15:45,626,835...45,646,313
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Hspb1
heat shock protein family B (small) member 1
ISO
protein:increased expression:glomerulus, podocyte:
RGD
PMID:21931298
RGD:10402764
NCBI chr12:20,794,014...20,795,675
Ensembl chr12:20,794,028...20,795,743
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Il1b
interleukin 1 beta
ISO
RGD
PMID:21412216
RGD:7175321
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Inf2
inverted formin 2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal
CTD ClinVar
PMID:20023659 PMID:21866090 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30655312 PMID:32451589 More...
NCBI chr 6:131,649,162...131,675,944
Ensembl chr 6:131,649,211...131,675,941
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Itgb3
integrin subunit beta 3
ISO
RGD
PMID:21804539
RGD:6907385
NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679
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Itgb4
integrin subunit beta 4
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
ClinVar
PMID:25741868
NCBI chr10:101,206,657...101,243,012
Ensembl chr10:101,206,665...101,243,012
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Kirrel2
kirre like nephrin family adhesion molecule 2
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal
ClinVar
PMID:19406966 PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr 1:85,708,793...85,718,670
Ensembl chr 1:85,708,793...85,718,670
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Lamb2
laminin subunit beta 2
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal
ClinVar
PMID:20556798 PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr 8:109,178,367...109,190,552
Ensembl chr 8:109,178,409...109,190,549
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Lipc
lipase C, hepatic type
IAGP
protein:reduced expression:serum (rat)
RGD
PMID:14531811
RGD:2308781
NCBI chr 8:71,509,633...71,635,663
Ensembl chr 8:71,509,635...71,635,464
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Lmx1b
LIM homeobox transcription factor 1 beta
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 3:16,862,195...16,940,899
Ensembl chr 3:16,862,195...16,940,899
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Lpl
lipoprotein lipase
IEP
RGD
PMID:14531811
RGD:2308781
NCBI chr16:20,830,055...20,853,855
Ensembl chr16:20,829,465...20,855,249
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Med28
mediator complex subunit 28
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
ClinVar
PMID:25741868
NCBI chr14:65,594,785...65,603,583
Ensembl chr14:65,594,647...65,603,583
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Mir193a
microRNA 193a
ISS
MouseDO
NCBI chr10:64,672,343...64,672,454
Ensembl chr10:64,672,343...64,672,454
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Mmp2
matrix metallopeptidase 2
IEP
mRNA, protein:increased expression, increased activity:kidney
RGD
PMID:19357873
RGD:2325738
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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Mmp9
matrix metallopeptidase 9
IEP
mRNA, protein:increased expression, increased activity:kidney
RGD
PMID:19357873
RGD:2325738
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Mpv17
mitochondrial inner membrane protein MPV17
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18818194
NCBI chr 6:25,221,668...25,236,241
Ensembl chr 6:25,222,896...25,236,244
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Myh10
myosin heavy chain 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9678433
NCBI chr10:53,393,901...53,525,174
Ensembl chr10:53,394,389...53,525,165
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Myh9
myosin, heavy chain 9
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:18794856 PMID:19557653 PMID:23144074 PMID:24033266 PMID:25741868 PMID:26346198 PMID:26467025 PMID:26969326 PMID:27068579 PMID:28492532 PMID:21402784 More...
RGD:6903254
NCBI chr 7:109,343,718...109,424,457
Ensembl chr 7:109,343,706...109,424,457
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Myo1e
myosin IE
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 8:70,887,934...71,080,180
Ensembl chr 8:70,887,870...71,080,169
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Myo9a
myosin IXA
ISS ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal
MouseDO ClinVar
PMID:25741868 PMID:33412162
NCBI chr 8:60,149,234...60,352,330
Ensembl chr 8:60,149,234...60,350,514
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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 PMID:21245836 PMID:21621776 PMID:22128899 PMID:22403613 PMID:22524199 PMID:22529966 PMID:22843550 PMID:22935299 PMID:24033266 PMID:24098386 PMID:24158955 PMID:24431285 PMID:24649046 PMID:25586466 PMID:25596455 PMID:25741868 PMID:26020059 PMID:26033552 PMID:26178285 PMID:26273672 PMID:26467025 PMID:26535712 PMID:26848126 PMID:27036377 PMID:27060062 PMID:27819323 PMID:27943647 PMID:28028683 PMID:28137891 PMID:28185410 PMID:28492532 PMID:28692792 PMID:29102545 PMID:29117789 PMID:29148409 PMID:29977033 PMID:30214525 More...
NCBI chr10:44,326,770...44,353,814
Ensembl chr10:44,328,566...44,352,811
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Noc3l
NOC3-like DNA replication regulator
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
ClinVar
PMID:25741868
NCBI chr 1:236,556,037...236,585,372
Ensembl chr 1:236,556,789...236,585,318
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Nos2
nitric oxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16191423
NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
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Nphp1
nephrocystin 1
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 3:114,960,650...115,016,234
Ensembl chr 3:114,960,650...115,016,234
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Nphp3
nephrocystin 3
ISO
ClinVar Annotator: match by term: Glomerulosclerosis, focal
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 8:104,621,908...104,662,383
Ensembl chr 8:104,621,864...104,662,383
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Nphp4
nephrocystin 4
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 5:162,986,157...163,073,708
Ensembl chr 5:162,988,370...163,073,706
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Nphs1
NPHS1 adhesion molecule, nephrin
disease_progression
ISO
mRNA:increased expression:urine (human) protein:decreased expression:kidney,renal glomerulus (human)
RGD
PMID:21414970 PMID:30900988
RGD:38549367 , RGD:15023481
NCBI chr 1:85,720,812...85,749,079
Ensembl chr 1:85,720,812...85,749,078
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Nphs2
NPHS2 stomatin family member, podocin
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal
CTD ClinVar
PMID:1523708 PMID:8589695 PMID:10742096 PMID:11805166 PMID:11805168 PMID:11854170 PMID:12446471 PMID:12464671 PMID:12644922 PMID:12707396 PMID:12776285 PMID:14570703 PMID:14675423 PMID:14701729 PMID:14978175 PMID:15042551 PMID:15253708 PMID:15264208 PMID:15327385 PMID:15496146 PMID:15769810 PMID:15942677 PMID:15954915 PMID:15968559 PMID:16286890 PMID:16291839 PMID:16481888 PMID:16810518 PMID:16900088 PMID:17109732 PMID:17371932 PMID:17899208 PMID:17942957 PMID:18216321 PMID:18499321 PMID:18683072 PMID:18823551 PMID:19145239 PMID:19268410 PMID:19406966 PMID:19520069 PMID:19812541 PMID:20333530 PMID:20798252 PMID:20947785 PMID:21355056 PMID:21415313 PMID:21636722 PMID:21722858 PMID:22228437 PMID:22578956 PMID:23242530 PMID:23349334 PMID:23515051 PMID:23595123 PMID:23645318 PMID:23800802 PMID:24072147 PMID:24227627 PMID:24509478 PMID:24715228 PMID:24742477 PMID:24969201 PMID:25349199 PMID:25525159 PMID:25599733 PMID:25741868 PMID:26138234 PMID:26211502 PMID:26413278 PMID:26420286 PMID:26467025 PMID:26467726 PMID:27885584 PMID:28492532 PMID:28529802 PMID:28658201 PMID:28712774 PMID:28780565 PMID:29869118 PMID:30241959 PMID:30260545 PMID:30348286 PMID:30655312 PMID:31027891 PMID:31738409 PMID:32129207 PMID:32467597 PMID:32581362 PMID:33193607 PMID:33532864 PMID:34405919 PMID:34853150 More...
NCBI chr13:68,448,720...68,461,312
Ensembl chr13:68,448,926...68,461,313
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Nup93
nucleoporin 93
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
ClinVar
PMID:32581362
NCBI chr19:10,684,214...10,788,009
Ensembl chr19:10,682,075...10,788,026
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Nxf7
nuclear RNA export factor 7
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
ClinVar
PMID:23686279
NCBI chr X:98,535,374...98,552,562
Ensembl chr X:98,535,375...98,552,526
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Pax2
paired box 2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal
CTD ClinVar
PMID:3377002 PMID:8589702 PMID:9106533 PMID:11093271 PMID:11241473 PMID:11461952 PMID:22213154 PMID:22350371 PMID:24429398 PMID:24676634 PMID:25741868 PMID:27226968 PMID:28492532 PMID:31001663 PMID:32203253 PMID:33532864 PMID:34696790 PMID:35444690 More...
NCBI chr 1:243,616,509...243,697,454
Ensembl chr 1:243,616,606...243,695,321
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Pcna
proliferating cell nuclear antigen
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17121042
NCBI chr 3:119,499,039...119,502,911
Ensembl chr 3:119,498,810...119,502,995
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Pdss2
decaprenyl diphosphate synthase subunit 2
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
ClinVar
PMID:25741868 PMID:28492532
NCBI chr20:46,709,631...46,938,704
Ensembl chr20:46,709,649...46,938,708
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Pias1
protein inhibitor of activated STAT, 1
IEP
RGD
PMID:19350281
RGD:8693412
NCBI chr 8:63,338,150...63,451,670
Ensembl chr 8:63,338,150...63,438,905
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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 PMID:28492532 More...
NCBI chr 1:236,243,445...236,552,571
Ensembl chr 1:236,244,683...236,551,438
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Pmm2
phosphomannomutase 2
ISO
ClinVar Annotator: match by term: Glomerulosclerosis, focal
ClinVar
PMID:9140401 PMID:9497260 PMID:9781039 PMID:10386614 PMID:10527672 PMID:10602363 PMID:10700701 PMID:10854097 PMID:10922383 PMID:11058895 PMID:11134235 PMID:11409861 PMID:11517108 PMID:11530212 PMID:11916319 PMID:12244009 PMID:15844218 PMID:16540464 PMID:17166182 PMID:17451957 PMID:19357119 PMID:20301289 PMID:21228398 PMID:21541725 PMID:22975760 PMID:24424129 PMID:25333069 PMID:25355454 PMID:25741868 PMID:26014514 PMID:26488408 PMID:28373276 PMID:28492532 PMID:28940310 PMID:30061496 PMID:30740725 PMID:31474318 PMID:32581362 PMID:32860008 More...
NCBI chr10:6,961,521...6,982,913
Ensembl chr10:6,961,709...6,983,098
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Ppp3ca
protein phosphatase 3 catalytic subunit alpha
ISO
RGD
PMID:26436650
RGD:13515117
NCBI chr 2:225,165,981...225,440,978
Ensembl chr 2:225,165,766...225,438,974
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Ppp3cb
protein phosphatase 3 catalytic subunit beta
ISO
RGD
PMID:26436650
RGD:13515117
NCBI chr15:3,759,950...3,804,976
Ensembl chr15:3,760,030...3,804,981
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Psap
prosaposin
ISO
ClinVar Annotator: match by term: Hyalinosis, Segmental Glomerular
ClinVar
PMID:24033266 PMID:25741868 PMID:28492532 PMID:30976395 PMID:35456468
NCBI chr20:28,214,229...28,240,501
Ensembl chr20:28,214,271...28,240,498
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Rap1gap
Rap1 GTPase-activating protein
ISO
mRNA:increased expression:renal glomerulus (human)
RGD
PMID:24642466
RGD:9835343
NCBI chr 5:149,873,987...149,939,254
Ensembl chr 5:149,892,019...149,939,253
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Reg1a
regenerating family member 1 alpha
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
ClinVar
PMID:25741868
NCBI chr 4:110,892,451...110,895,115
Ensembl chr 4:110,892,453...110,895,570
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Rpgrip1l
Rpgrip1-like
ISO
ClinVar Annotator: match by term: Glomerulosclerosis, focal
ClinVar
PMID:19430481 PMID:20301500 PMID:25741868 PMID:28492532
NCBI chr19:15,692,189...15,785,083
Ensembl chr19:15,692,150...15,785,083
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Scarb2
scavenger receptor class B, member 2
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal
ClinVar
PMID:25088547 PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr14:15,558,271...15,609,813
Ensembl chr14:15,558,236...15,609,813
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Sdccag8
SHH signaling and ciliogenesis regulator SDCCAG8
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal
ClinVar
PMID:25741868
NCBI chr13:88,754,521...88,979,363
Ensembl chr13:88,754,626...89,097,111
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Serpine1
serpin family E member 1
treatment
ISO IEP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:18682491 PMID:22303720
RGD:13208548
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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Shh
sonic hedgehog signaling molecule
ISO
RGD
PMID:24744439
RGD:12859042
NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170
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Slc17a5
solute carrier family 17 member 5
ISO
ClinVar Annotator: match by term: Glomerulosclerosis, focal
ClinVar
PMID:25741868 PMID:28492532 PMID:29140481
NCBI chr 8:79,394,416...79,429,387
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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 PMID:19127206 PMID:20301550 PMID:21914180 PMID:22998683 PMID:24589093 PMID:25741868 PMID:26499378 PMID:28492532 PMID:28796785 PMID:29127259 PMID:30784191 More...
NCBI chr 9:74,239,718...74,286,156
Ensembl chr 9:74,240,241...74,286,146
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Spp1
secreted phosphoprotein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9294829
NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162
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Srgap1
SLIT-ROBO Rho GTPase activating protein 1
ISS
MouseDO
NCBI chr 7:57,329,532...57,594,681
Ensembl chr 7:57,329,532...57,596,196
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Tgfb1
transforming growth factor, beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16191423 PMID:18682491 PMID:20493835
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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Tmem63c
transmembrane protein 63c
ISO
protein:decreased expression:kidney,renal glomerulus (human)
RGD
PMID:30900988
RGD:15023481
NCBI chr 6:106,667,389...106,738,778
Ensembl chr 6:106,672,934...106,736,990
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Tnf
tumor necrosis factor
ISO
protein:increased expression:serum
RGD
PMID:21221075
RGD:7245511
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Tnfaip2
TNF alpha induced protein 2
ISS
MouseDO
NCBI chr 6:130,476,832...130,489,914
Ensembl chr 6:130,476,889...130,489,914
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Tnfrsf1a
TNF receptor superfamily member 1A
ISO
protein:increased expression:serum
RGD
PMID:21221075
RGD:7245511
NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
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Tnfrsf1b
TNF receptor superfamily member 1B
ISO
protein:increased expression:serum
RGD
PMID:21221075
RGD:7245511
NCBI chr 5:157,070,642...157,104,216
Ensembl chr 5:157,070,642...157,104,206
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Trpc6
transient receptor potential cation channel, subfamily C, member 6
treatment
IDA ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal CTD Direct Evidence: marker/mechanism DNA:missense mutation:exon:p.P112Q (human) DNA:nonsense mutation, missense mutations: :multiple DNA:SNP:exon:p.P15S (human)
ClinVar CTD RGD
PMID:19936226 PMID:22980509 PMID:25019165 PMID:25741868 PMID:26467025 PMID:26892346 PMID:28492532 PMID:32581362 PMID:23385000 PMID:15879175 PMID:15924139 PMID:21839714 PMID:22980509 More...
RGD:7247440 , RGD:7247581 , RGD:7247580 , RGD:7247445 , RGD:7247444
NCBI chr 8:5,759,387...5,864,000
Ensembl chr 8:5,758,935...5,828,092
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Vldlr
very low density lipoprotein receptor
IEP
protein:decreased expression:adipose tissue, skeletal muscle (rat)
RGD
PMID:11786096
RGD:2324671
NCBI chr 1:224,813,539...224,850,400
Ensembl chr 1:224,814,377...224,845,920
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Vwf
von Willebrand factor
ISO
RGD
PMID:22295953
RGD:7207031
NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539
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Wt1
WT1 transcription factor
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
ClinVar
PMID:7795587 PMID:8388765 PMID:9108089 PMID:9531607 PMID:10571943 PMID:11241055 PMID:11738793 PMID:12471221 PMID:15150775 PMID:15483024 PMID:18559874 PMID:18591546 PMID:18618575 PMID:19171881 PMID:19205749 PMID:19221039 PMID:19494353 PMID:19536888 PMID:20368469 PMID:20413658 PMID:20435628 PMID:20595692 PMID:21504297 PMID:21508141 PMID:21851196 PMID:23117548 PMID:23515051 PMID:25110071 PMID:25145932 PMID:25349199 PMID:25383892 PMID:25741868 PMID:25818337 PMID:25932436 PMID:26467025 PMID:26725263 PMID:28492532 PMID:30406062 PMID:33226606 PMID:34386660 More...
NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643
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Zmpste24
zinc metallopeptidase STE24
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17152860
NCBI chr 5:134,627,218...134,660,360
Ensembl chr 5:134,627,229...134,660,110
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Ace
angiotensin I converting enzyme
treatment
IMP
RGD
PMID:8505110
RGD:12880006
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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Actn4
actinin alpha 4
ISO ISS
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis | ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 1 OMIM:603278
OMIM ClinVar MouseDO
PMID:10700177 PMID:16251236 PMID:18594871 PMID:19142020 PMID:19956976 PMID:21680739 PMID:22351778 PMID:22732337 PMID:23890478 PMID:24130771 PMID:25741868 PMID:26248470 PMID:26301083 PMID:26346198 PMID:26467025 PMID:26740551 PMID:27535533 PMID:28492532 PMID:29869118 PMID:30406062 PMID:31027891 PMID:36090564 More...
NCBI chr 1:84,182,783...84,251,867
Ensembl chr 1:84,182,788...84,251,847
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Arhgap24
Rho GTPase activating protein 24
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 1
ClinVar
NCBI chr14:6,800,624...7,183,877
Ensembl chr14:6,800,631...7,183,823
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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 PMID:18823551 PMID:19406966 PMID:20947785 PMID:21355056 PMID:24509478 PMID:24742477 PMID:25741868 PMID:28492532 PMID:30655312 PMID:32581362 More...
NCBI chr13:68,471,957...68,544,788
Ensembl chr13:68,458,411...68,544,172
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C2
complement C2
ISO
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis
ClinVar
PMID:2249879 PMID:6308626 PMID:8181962 PMID:16518403 PMID:16936732 PMID:18806293 PMID:21541267 PMID:24033266 PMID:25741868 PMID:28492532 More...
NCBI chr20:3,951,474...3,970,376
Ensembl chr20:3,951,474...3,976,505
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C3
complement C3
ISO
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis
ClinVar
PMID:1976733 PMID:17634448 PMID:18325906 PMID:19168221 PMID:25741868 PMID:28492532 More...
NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
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Cd2ap
CD2-associated protein
ISO
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis
ClinVar
PMID:25741868
NCBI chr 9:18,086,744...18,182,744
Ensembl chr 9:18,086,984...18,182,199
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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 PMID:18806293 PMID:21541267 PMID:24033266 PMID:25741868 PMID:28492532 More...
NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505
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Cfi
complement factor I
ISO
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis
ClinVar
PMID:18825487 PMID:25741868 PMID:28492532
NCBI chr 2:218,389,079...218,430,565
Ensembl chr 2:218,387,990...218,430,561
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Col4a4
collagen type IV alpha 4 chain
ISO
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis
ClinVar
PMID:19129241 PMID:21196518 PMID:24052634 PMID:24522496 PMID:24854265 PMID:25307543 PMID:25741868 PMID:26809805 PMID:27281700 PMID:28492532 PMID:31049720 PMID:31922066 More...
NCBI chr 9:83,833,173...83,875,436
Ensembl chr 9:83,755,515...83,875,876
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Cubn
cubilin
ISO
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis
ClinVar
PMID:25741868 PMID:28492532
NCBI chr17:76,385,046...76,593,133
Ensembl chr17:76,385,060...76,593,231
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Eya1
EYA transcriptional coactivator and phosphatase 1
ISO
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis
ClinVar
PMID:10991693 PMID:24033266 PMID:25741868 PMID:31049720
NCBI chr 5:4,863,501...5,101,483
Ensembl chr 5:4,955,543...5,101,483
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Inf2
inverted formin 2
ISO
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 6:131,649,162...131,675,944
Ensembl chr 6:131,649,211...131,675,941
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Kirrel2
kirre like nephrin family adhesion molecule 2
ISO
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:85,708,793...85,718,670
Ensembl chr 1:85,708,793...85,718,670
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Lamb2
laminin subunit beta 2
ISO
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis
ClinVar
PMID:20556798 PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr 8:109,178,367...109,190,552
Ensembl chr 8:109,178,409...109,190,549
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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 PMID:26467025 PMID:26969326 PMID:27068579 PMID:28492532 More...
NCBI chr 7:109,343,718...109,424,457
Ensembl chr 7:109,343,706...109,424,457
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Myo9a
myosin IXA
ISO
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis
ClinVar
PMID:25741868 PMID:33412162
NCBI chr 8:60,149,234...60,352,330
Ensembl chr 8:60,149,234...60,350,514
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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 PMID:21245836 PMID:21621776 PMID:22128899 PMID:22403613 PMID:22524199 PMID:22529966 PMID:22843550 PMID:22935299 PMID:24033266 PMID:24098386 PMID:24158955 PMID:24431285 PMID:24649046 PMID:25586466 PMID:25596455 PMID:25741868 PMID:26020059 PMID:26033552 PMID:26178285 PMID:26273672 PMID:26467025 PMID:26535712 PMID:26848126 PMID:27036377 PMID:27060062 PMID:27819323 PMID:27943647 PMID:28028683 PMID:28137891 PMID:28185410 PMID:28492532 PMID:28692792 PMID:29102545 PMID:29117789 PMID:29148409 PMID:29977033 PMID:30214525 More...
NCBI chr10:44,326,770...44,353,814
Ensembl chr10:44,328,566...44,352,811
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Nphp3
nephrocystin 3
ISO
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 8:104,621,908...104,662,383
Ensembl chr 8:104,621,864...104,662,383
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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 PMID:12464671 PMID:12707396 PMID:12776285 PMID:14978175 PMID:15042551 PMID:15253708 PMID:15327385 PMID:15496146 PMID:15769810 PMID:15954915 PMID:15968559 PMID:16286890 PMID:16481888 PMID:16810518 PMID:16900088 PMID:17371932 PMID:17899208 PMID:17942957 PMID:18216321 PMID:18499321 PMID:18683072 PMID:18823551 PMID:19145239 PMID:19268410 PMID:19406966 PMID:19520069 PMID:19812541 PMID:20333530 PMID:20798252 PMID:20947785 PMID:21355056 PMID:21415313 PMID:21722858 PMID:22228437 PMID:22578956 PMID:23242530 PMID:23349334 PMID:23515051 PMID:23595123 PMID:23645318 PMID:23800802 PMID:24227627 PMID:24509478 PMID:24715228 PMID:24742477 PMID:24969201 PMID:25599733 PMID:25741868 PMID:26138234 PMID:26211502 PMID:26413278 PMID:26420286 PMID:26467025 PMID:27885584 PMID:28492532 PMID:28529802 PMID:28712774 PMID:28780565 PMID:29869118 PMID:30241959 PMID:30260545 PMID:30348286 PMID:30655312 PMID:31027891 PMID:31738409 PMID:32129207 PMID:32467597 PMID:32581362 PMID:33193607 PMID:33532864 PMID:34405919 PMID:34853150 More...
NCBI chr13:68,448,720...68,461,312
Ensembl chr13:68,448,926...68,461,313
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Nup107
nucleoporin 107
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 1
ClinVar
NCBI chr 7:53,353,740...53,398,345
Ensembl chr 7:53,353,743...53,398,370
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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 PMID:11461952 PMID:22213154 PMID:22350371 PMID:24429398 PMID:24676634 PMID:25741868 PMID:27226968 PMID:28492532 PMID:31001663 PMID:32203253 PMID:33532864 PMID:34696790 PMID:35444690 More...
NCBI chr 1:243,616,509...243,697,454
Ensembl chr 1:243,616,606...243,695,321
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Plce1
phospholipase C, epsilon 1
ISO
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr 1:236,243,445...236,552,571
Ensembl chr 1:236,244,683...236,551,438
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Pmm2
phosphomannomutase 2
ISO
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis
ClinVar
PMID:9140401 PMID:9497260 PMID:9781039 PMID:10386614 PMID:10527672 PMID:10602363 PMID:10700701 PMID:10854097 PMID:10922383 PMID:11058895 PMID:11134235 PMID:11409861 PMID:11517108 PMID:11530212 PMID:11916319 PMID:12244009 PMID:15844218 PMID:16540464 PMID:17166182 PMID:17451957 PMID:19357119 PMID:20301289 PMID:21228398 PMID:21541725 PMID:22975760 PMID:24424129 PMID:25333069 PMID:25355454 PMID:25741868 PMID:26014514 PMID:26488408 PMID:28373276 PMID:28492532 PMID:28940310 PMID:30061496 PMID:30740725 PMID:31474318 PMID:32581362 PMID:32860008 More...
NCBI chr10:6,961,521...6,982,913
Ensembl chr10:6,961,709...6,983,098
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Rpgrip1l
Rpgrip1-like
ISO
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis
ClinVar
PMID:19430481 PMID:20301500 PMID:25741868 PMID:28492532
NCBI chr19:15,692,189...15,785,083
Ensembl chr19:15,692,150...15,785,083
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Scarb2
scavenger receptor class B, member 2
ISO
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr14:15,558,271...15,609,813
Ensembl chr14:15,558,236...15,609,813
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Sdccag8
SHH signaling and ciliogenesis regulator SDCCAG8
ISO
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis
ClinVar
PMID:25741868
NCBI chr13:88,754,521...88,979,363
Ensembl chr13:88,754,626...89,097,111
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Slc17a5
solute carrier family 17 member 5
ISO
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis
ClinVar
PMID:25741868 PMID:28492532 PMID:29140481
NCBI chr 8:79,394,416...79,429,387
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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 PMID:19127206 PMID:20301550 PMID:21914180 PMID:22998683 PMID:24589093 PMID:25741868 PMID:26499378 PMID:28492532 PMID:28796785 PMID:29127259 PMID:30784191 More...
NCBI chr 9:74,239,718...74,286,156
Ensembl chr 9:74,240,241...74,286,146
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Trpc6
transient receptor potential cation channel, subfamily C, member 6
ISO
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 8:5,759,387...5,864,000
Ensembl chr 8:5,758,935...5,828,092
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Trpc6
transient receptor potential cation channel, subfamily C, member 6
ISO ISS
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 2 | ClinVar Annotator: match by term: TRPC6-related condition OMIM:603965 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:2298509 PMID:10200986 PMID:15879175 PMID:15924139 PMID:16932363 PMID:19129465 PMID:19380626 PMID:19936226 PMID:21734084 PMID:22732337 PMID:22980509 PMID:23171048 PMID:23291369 PMID:23645677 PMID:25019165 PMID:25741868 PMID:26127002 PMID:26147534 PMID:26467025 PMID:26892346 PMID:27573339 PMID:28117080 PMID:28204945 PMID:28492532 PMID:28780565 PMID:28921387 PMID:29127259 PMID:29700422 PMID:30295827 PMID:30586318 PMID:30655312 PMID:31266804 PMID:31266820 PMID:31576025 PMID:31937884 PMID:32509715 PMID:33532864 PMID:33884742 PMID:35051376 PMID:35064937 PMID:35749414 PMID:35913909 More...
NCBI chr 8:5,759,387...5,864,000
Ensembl chr 8:5,758,935...5,828,092
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Cd2ap
CD2-associated protein
ISO ISS
ClinVar Annotator: match by term: CD2AP-related condition | ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 3, susceptibility to OMIM:607832
OMIM ClinVar MouseDO
PMID:10514378 PMID:12764198 PMID:17713465 PMID:18443213 PMID:19131354 PMID:22971997 PMID:24033266 PMID:25741868 PMID:26346198 PMID:28492532 PMID:30406062 PMID:30612599 PMID:31027891 PMID:33712733 PMID:34408996 PMID:36134775 More...
NCBI chr 9:18,086,744...18,182,744
Ensembl chr 9:18,086,984...18,182,199
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Adss1
adenylosuccinate synthase 1
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5
ClinVar
PMID:28492532
NCBI chr 6:131,679,795...131,702,012
Ensembl chr 6:131,679,701...131,701,998
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Ahnak2
AHNAK nucleoprotein 2
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5
ClinVar
PMID:28492532
NCBI chr 6:131,830,668...131,876,311
Ensembl chr 6:131,831,454...131,854,463
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Akt1
AKT serine/threonine kinase 1
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5
ClinVar
PMID:28492532
NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921
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Brf1
BRF1 general transcription factor IIIB subunit
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5
ClinVar
PMID:28492532
NCBI chr 6:132,034,378...132,081,313
Ensembl chr 6:132,037,272...132,081,278
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Btbd6
BTB domain containing 6
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5
ClinVar
PMID:28492532
NCBI chr 6:132,058,094...132,060,603
Ensembl chr 6:132,058,096...132,060,587
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Cdca4
cell division cycle associated 4
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5
ClinVar
PMID:28492532
NCBI chr 6:131,892,305...131,901,571
Ensembl chr 6:131,892,087...131,901,564
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Cep170b
centrosomal protein 170B
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5
ClinVar
PMID:28492532
NCBI chr 6:131,780,935...131,806,658
Ensembl chr 6:131,778,957...131,806,658
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Clba1
clathrin binding box of aftiphilin containing 1
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5
ClinVar
PMID:28492532
NCBI chr 6:131,882,866...131,889,662
Ensembl chr 6:131,882,609...131,889,662
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Gpr132
G protein-coupled receptor 132
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5
ClinVar
PMID:28492532
NCBI chr 6:131,924,061...131,943,327
Ensembl chr 6:131,924,160...131,942,168
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Inf2
inverted formin 2
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 | ClinVar Annotator: match by term: INF2-related condition CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:6054293 PMID:9536098 PMID:16199547 PMID:17576681 PMID:20023659 PMID:20803156 PMID:21258034 PMID:21415313 PMID:21866090 PMID:22187985 PMID:22961558 PMID:23014460 PMID:23349334 PMID:23515051 PMID:24174593 PMID:24750328 PMID:25165188 PMID:25407002 PMID:25676889 PMID:25741868 PMID:25741869 PMID:25943269 PMID:26086034 PMID:26248470 PMID:26467025 PMID:26467726 PMID:26764407 PMID:27350175 PMID:27549087 PMID:28492532 PMID:28658201 PMID:28780565 PMID:29653220 PMID:29869118 PMID:30126379 PMID:30373780 PMID:30406062 PMID:30586318 PMID:30680856 PMID:30773290 PMID:30962575 PMID:31328266 PMID:31515790 PMID:31924668 PMID:31937884 PMID:32444357 PMID:32451589 PMID:32604935 PMID:32901917 PMID:33443052 PMID:33712733 PMID:34120753 PMID:36413997 PMID:36506246 PMID:36637069 PMID:37772439 More...
NCBI chr 6:131,649,162...131,675,944
Ensembl chr 6:131,649,211...131,675,941
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Jag2
jagged canonical Notch ligand 2
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5
ClinVar
PMID:28492532
NCBI chr 6:131,983,059...132,005,665
Ensembl chr 6:131,983,056...132,005,818
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Nudt14
nudix hydrolase 14
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5
ClinVar
PMID:28492532
NCBI chr 6:132,010,309...132,017,298
Ensembl chr 6:132,010,297...132,017,298
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Pacs2
phosphofurin acidic cluster sorting protein 2
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5
ClinVar
PMID:28492532
NCBI chr 6:132,096,992...132,156,702
Ensembl chr 6:132,096,901...132,154,583
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Pld4
phospholipase D family, member 4
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5
ClinVar
PMID:28492532
NCBI chr 6:131,818,860...131,827,457
Ensembl chr 6:131,818,860...131,826,376
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Siva1
SIVA1, apoptosis-inducing factor
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5
ClinVar
PMID:28492532
NCBI chr 6:131,705,323...131,709,697
Ensembl chr 6:131,705,323...131,709,690
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Zbtb42
zinc finger and BTB domain containing 42
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5
ClinVar
PMID:28492532
NCBI chr 6:131,734,257...131,742,459
Ensembl chr 6:131,738,356...131,742,685
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Ldhal6b
lactate dehydrogenase A-like 6B
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 6
ClinVar
PMID:25741868
NCBI chr 1:45,997,845...45,999,268
Ensembl chr 1:45,991,991...45,999,272
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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 PMID:33532864 More...
NCBI chr 8:70,887,934...71,080,180
Ensembl chr 8:70,887,870...71,080,169
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Pax2
paired box 2
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 7
OMIM ClinVar
PMID:3377002 PMID:8589702 PMID:9106533 PMID:10466411 PMID:10533062 PMID:11093271 PMID:11241473 PMID:11461952 PMID:16199547 PMID:21108633 PMID:21654726 PMID:22213154 PMID:22350371 PMID:23539225 PMID:24429398 PMID:24676634 PMID:25741868 PMID:27226968 PMID:27657687 PMID:28041643 PMID:28492532 PMID:28566479 PMID:29973660 PMID:30076350 PMID:30241513 PMID:30773290 PMID:31001663 PMID:31027891 PMID:31060108 PMID:31576025 PMID:31692565 PMID:32203253 PMID:32604935 PMID:32776440 PMID:33532864 PMID:33997468 PMID:34696790 PMID:35444690 PMID:35574290 PMID:36549658 More...
NCBI chr 1:243,616,509...243,697,454
Ensembl chr 1:243,616,606...243,695,321
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Anln
anillin, actin binding protein
ISO
ClinVar Annotator: match by term: ANLN-related condition | ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 8
OMIM ClinVar
PMID:24676636 PMID:25741868 PMID:28106320 PMID:28492532 PMID:29869118
NCBI chr 8:20,858,227...20,921,602
Ensembl chr 8:20,858,228...20,921,538
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Synpo
synaptopodin
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 8
ClinVar
PMID:25741868 PMID:33615071
NCBI chr18:54,048,299...54,106,388
Ensembl chr18:54,026,152...54,102,126
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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 PMID:28492532 PMID:30212996 PMID:32581362 PMID:33532864 More...
NCBI chr 3:21,542,138...21,564,876
Ensembl chr 3:21,542,221...21,563,294
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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 PMID:32193649 PMID:32531461 PMID:33508234 PMID:34930159 More...
NCBI chr 1:245,369,632...245,384,513
Ensembl chr 1:245,369,632...245,384,513
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Anxa5
annexin A5
ISO
protein:increased expression:urine
RGD
PMID:17999093
RGD:7242031
NCBI chr 2:119,314,007...119,344,703
Ensembl chr 2:119,314,007...119,353,369
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Avil
advillin
ISO
ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome
ClinVar
PMID:25741868 PMID:29058690
NCBI chr 7:62,825,459...62,844,103
Ensembl chr 7:62,826,025...62,844,071
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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 PMID:12707396 PMID:14675423 PMID:14701729 PMID:14978175 PMID:15015071 PMID:15253708 PMID:15327385 PMID:15496146 PMID:15769810 PMID:15817495 PMID:16354237 PMID:16898497 PMID:17371932 PMID:17576681 PMID:17699384 PMID:17899208 PMID:18216321 PMID:18443213 PMID:18709391 PMID:18823551 PMID:19145239 PMID:19371226 PMID:19406966 PMID:19876656 PMID:20507940 PMID:20798252 PMID:20947785 PMID:21171529 PMID:21355056 PMID:21415313 PMID:22565185 PMID:22578956 PMID:22763815 PMID:23242530 PMID:23349334 PMID:23515051 PMID:23595123 PMID:23645318 PMID:24033266 PMID:24227627 PMID:24413855 PMID:24509478 PMID:24742477 PMID:24856380 PMID:25349199 PMID:25525159 PMID:25720465 PMID:25741868 PMID:26211502 PMID:26413278 PMID:26420286 PMID:26455708 PMID:26467025 PMID:26594346 PMID:26668027 PMID:28117080 PMID:28476686 PMID:28492532 PMID:28658201 PMID:28780565 PMID:29382718 PMID:29644057 PMID:29660491 PMID:29982877 PMID:30013592 PMID:30260545 PMID:30295827 PMID:30348286 PMID:30406062 PMID:30450462 PMID:30655312 PMID:31027891 PMID:31308032 PMID:32581362 PMID:32604935 PMID:33102883 PMID:33193607 PMID:33305316 PMID:33532864 PMID:36167728 More...
NCBI chr13:68,471,957...68,544,788
Ensembl chr13:68,458,411...68,544,172
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Col4a3
collagen type IV alpha 3 chain
ISO
ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome
ClinVar
PMID:25741868
NCBI chr 9:83,875,849...84,004,955
Ensembl chr 9:83,875,561...84,001,895
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Col4a4
collagen type IV alpha 4 chain
ISO
ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 9:83,833,173...83,875,436
Ensembl chr 9:83,755,515...83,875,876
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Col4a5
collagen type IV alpha 5 chain
ISO
ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome
ClinVar
PMID:32581362
NCBI chr X:105,118,762...105,322,699
Ensembl chr X:105,118,820...105,322,692
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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 PMID:30212996 PMID:32581362 More...
NCBI chr 3:21,542,138...21,564,876
Ensembl chr 3:21,542,221...21,563,294
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Nphs2
NPHS2 stomatin family member, podocin
ISO
ClinVar Annotator: match by term: NPHS2-related condition | ClinVar Annotator: match by term: Nephrotic syndrome, type 2 | ClinVar Annotator: match by term: Nephrotic syndrome, type 2, susceptibility to | ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:1523708 PMID:8589695 PMID:8606597 PMID:9536098 PMID:10742096 PMID:11729243 PMID:11733557 PMID:11805166 PMID:11805168 PMID:11854170 PMID:12446471 PMID:12464671 PMID:12608558 PMID:12644922 PMID:12649741 PMID:12707396 PMID:12776285 PMID:14570703 PMID:14675423 PMID:14701729 PMID:14978175 PMID:15015071 PMID:15042551 PMID:15059485 PMID:15253708 PMID:15264208 PMID:15322893 PMID:15327385 PMID:15496146 PMID:15504144 PMID:15769810 PMID:15780077 PMID:15817495 PMID:15954915 PMID:15968559 PMID:16199547 PMID:16286890 PMID:16291839 PMID:16354237 PMID:16481888 PMID:16721582 PMID:16810518 PMID:16898497 PMID:16900088 PMID:17109732 PMID:17216259 PMID:17218332 PMID:17371932 PMID:17576681 PMID:17699384 PMID:17899208 PMID:17942957 PMID:18216321 PMID:18380020 PMID:18443213 PMID:18499321 PMID:18596732 PMID:18683072 PMID:18709391 PMID:18726620 PMID:18823551 PMID:19067903 PMID:19145239 PMID:19268410 PMID:19371226 PMID:19406966 PMID:19520069 PMID:19674119 PMID:19812541 PMID:19876656 PMID:20001346 PMID:20333530 PMID:20507940 PMID:20798252 PMID:20947785 PMID:21125408 PMID:21171529 PMID:21355056 PMID:21415313 PMID:21636722 PMID:21722858 PMID:22228437 PMID:22565185 PMID:22578956 PMID:22763815 PMID:23013956 PMID:23242530 PMID:23349334 PMID:23515051 PMID:23595123 PMID:23645318 PMID:23800802 PMID:23913389 PMID:24033266 PMID:24072147 PMID:24089165 PMID:24227627 PMID:24413855 PMID:24500309 PMID:24509478 PMID:24511133 PMID:24596097 PMID:24715228 PMID:24742477 PMID:24856380 PMID:24969201 PMID:25060053 PMID:25349199 PMID:25525159 PMID:25573908 PMID:25599733 PMID:25677497 PMID:25720465 PMID:25741868 PMID:25852895 PMID:25903641 PMID:26138234 PMID:26211502 PMID:26413278 PMID:26420286 PMID:26455708 PMID:26467025 PMID:26467726 PMID:26594346 PMID:26668027 PMID:26820844 PMID:27885584 PMID:28117080 PMID:28204945 PMID:28385484 PMID:28476686 PMID:28492532 PMID:28529802 PMID:28658201 PMID:28712774 PMID:28780565 PMID:29049388 PMID:29127259 PMID:29382718 PMID:29644057 PMID:29660491 PMID:29869118 PMID:29982877 PMID:30013592 PMID:30241959 PMID:30260545 PMID:30295827 PMID:30348286 PMID:30406062 PMID:30450462 PMID:30609409 PMID:30655312 PMID:30721404 PMID:31027891 PMID:31308032 PMID:31738409 PMID:32129207 PMID:32467597 PMID:32581362 PMID:32604935 PMID:33102883 PMID:33193607 PMID:33305316 PMID:33428103 PMID:33532864 PMID:33980730 PMID:34031707 PMID:34405919 PMID:34853150 PMID:36167728 More...
NCBI chr13:68,448,720...68,461,312
Ensembl chr13:68,448,926...68,461,313
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Nr3c1
nuclear receptor subfamily 3, group C, member 1
ISO
mRNA:alternative form:blood, mononuclear cell
RGD
PMID:20419394
RGD:7174729
NCBI chr18:31,271,681...31,393,320
Ensembl chr18:31,271,681...31,393,375
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Nup205
nucleoporin 205
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26878725
NCBI chr 4:63,854,934...63,920,852
Ensembl chr 4:63,854,783...63,920,844
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Nup93
nucleoporin 93
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26878725
NCBI chr19:10,684,214...10,788,009
Ensembl chr19:10,682,075...10,788,026
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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 PMID:11461952 PMID:22213154 PMID:22350371 PMID:24429398 PMID:24676634 PMID:25741868 PMID:27226968 PMID:28492532 PMID:31001663 PMID:32203253 PMID:33532864 PMID:34696790 PMID:35444690 More...
NCBI chr 1:243,616,509...243,697,454
Ensembl chr 1:243,616,606...243,695,321
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Pla2g7
phospholipase A2 group VII
disease_progression
ISO
RGD
PMID:9853251
RGD:7248793
NCBI chr 9:17,362,214...17,404,476
Ensembl chr 9:17,362,225...17,404,476
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Plce1
phospholipase C, epsilon 1
ISO
DNA:mutations: :
RGD
PMID:20591883
RGD:7257521
NCBI chr 1:236,243,445...236,552,571
Ensembl chr 1:236,244,683...236,551,438
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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 PMID:19127206 PMID:20301550 PMID:21914180 PMID:22998683 PMID:24589093 PMID:25741868 PMID:26499378 PMID:28492532 PMID:28796785 PMID:29127259 More...
NCBI chr 9:74,239,718...74,286,156
Ensembl chr 9:74,240,241...74,286,146
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Trpc6
transient receptor potential cation channel, subfamily C, member 6
ISO
DNA:missense mutations, SNPs:exon, intron:multiple
RGD
PMID:21511817
RGD:7247446
NCBI chr 8:5,759,387...5,864,000
Ensembl chr 8:5,758,935...5,828,092
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Tsfm
Ts translation elongation factor, mitochondrial
ISO
ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome
ClinVar
PMID:25741868 PMID:29058690
NCBI chr 7:62,828,997...62,864,784
Ensembl chr 7:62,845,488...62,864,769
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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 PMID:6307071 PMID:7795587 PMID:8295405 PMID:9090524 PMID:9398852 PMID:9475094 PMID:9499425 PMID:9529364 PMID:9536098 PMID:9607189 PMID:10094551 PMID:10470095 PMID:10505699 PMID:10505700 PMID:10561752 PMID:10670748 PMID:10762296 PMID:10792605 PMID:11007843 PMID:11182928 PMID:12050205 PMID:12970737 PMID:15150775 PMID:15509792 PMID:16439601 PMID:17496156 PMID:17541636 PMID:17576681 PMID:17694336 PMID:17853480 PMID:19484379 PMID:20442690 PMID:21499692 PMID:22099579 PMID:22815844 PMID:22908070 PMID:23295293 PMID:23302619 PMID:23497137 PMID:23515051 PMID:23715653 PMID:23935527 PMID:24033266 PMID:24161391 PMID:24856380 PMID:25501161 PMID:25623218 PMID:25741868 PMID:25813279 PMID:25818337 PMID:26069768 PMID:26467025 PMID:27013732 PMID:27719739 PMID:27899157 PMID:28204945 PMID:28492532 PMID:28780565 PMID:29668062 PMID:30406062 PMID:30655312 PMID:32352694 PMID:32581362 PMID:34622098 PMID:35211794 PMID:35904974 PMID:36980135 More...
NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643
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Xpo5
exportin 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26878725
NCBI chr 9:14,740,182...14,778,171
Ensembl chr 9:14,740,182...14,778,171
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Lmx1b
LIM homeobox transcription factor 1 beta
ISO
ClinVar Annotator: match by term: Focal Segmental Glomerulosclerosis 10 | ClinVar Annotator: match by term: Nail-patella-like renal disease
OMIM ClinVar
PMID:23687361 PMID:24042019 PMID:25741868 PMID:26560070 PMID:28059119 PMID:28492532 PMID:29127259 PMID:32356190 PMID:32581362 PMID:32791958 PMID:33532864 More...
NCBI chr 3:16,862,195...16,940,899
Ensembl chr 3:16,862,195...16,940,899
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