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: renal fibrosis
Accession: DOID:0050855
browse the term
Definition: A kidney disease that is characterized by progressive detrimental connective tissue deposition of the kidney parenchyma leading to deterioration of renal function. (DO)
Synonyms: exact_synonym: kidney fibrosis
xref: EFO:1001517
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ACE
angiotensin I converting enzyme
treatment
ISO
protein:decreased expression:renal medulla, renal cortex, brush border epithelial cell (human)
RGD
PMID:10504496 PMID:10644663
RGD:12879403 RGD:8158033
NCBI chr17:57,556,294...57,577,294
Ensembl chr17:62,702,341...62,733,853
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ADAM17
ADAM metallopeptidase domain 17
ISO
RGD
PMID:22015440
RGD:13703100
NCBI chr2A:9,478,080...9,545,363
Ensembl chr2A:9,641,201...9,708,054
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AGER
advanced glycosylation end-product specific receptor
treatment
ISO
associated with Diabetes Mellitus, Experimental mRNA:decreased expression:lung (kidney)
RGD
PMID:21704028 PMID:22669512 PMID:22698914
RGD:7243851 RGD:7244186 RGD:7245533
NCBI chr 6:31,828,363...31,831,981
Ensembl chr 6:32,708,251...32,711,641
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ARRB2
arrestin beta 2
ISO
associated with ureteral obstruction;mRNA, protein:increased expression:kidney
RGD
PMID:28274926
RGD:13506828
NCBI chr17:4,766,616...4,777,253
Ensembl chr17:4,757,048...4,767,517
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BDKRB1
bradykinin receptor B1
ISO
RGD
PMID:18809736
RGD:7241554
NCBI chr14:76,885,923...76,894,456
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BMP6
bone morphogenetic protein 6
severity
ISO
associated with Ureteral Obstruction
RGD
PMID:21356359
RGD:7242415
NCBI chr 6:7,564,164...7,720,341
Ensembl chr 6:7,848,249...8,000,649
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CLU
clusterin
ISO
associated with Ureteral Obstruction
RGD
PMID:22052058
RGD:9068421
NCBI chr 8:26,867,973...26,884,838
Ensembl chr 8:24,070,053...24,083,523
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COL3A1
collagen type III alpha 1 chain
ISO
protein:increased expression:kidney
RGD
PMID:23224993
RGD:7257551
NCBI chr2B:76,285,115...76,322,703
Ensembl chr2B:194,204,613...194,242,956
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CPB2
carboxypeptidase B2
ISO
associated with Ureteral Obstruction;
RGD
PMID:17988229
RGD:7243118
NCBI chr13:26,926,788...26,979,767
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CRP
C-reactive protein
onset
ISO
associated with ureteral obstruction
RGD
PMID:21383672
RGD:6907431
NCBI chr 1:135,062,102...135,064,402
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CYGB
cytoglobin
treatment
ISO
RGD
PMID:20719976
RGD:9685174
NCBI chr17:70,475,651...70,485,987
Ensembl chr17:76,167,947...76,179,412
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CYP2J2
cytochrome P450 family 2 subfamily J member 2
ISO
RGD
PMID:22260463
RGD:7243130
NCBI chr 1:59,151,079...59,184,625
Ensembl chr 1:60,856,269...60,889,810
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ECE1
endothelin converting enzyme 1
ISO
associated with Ureteral obstruction;mRNA:increased expression:kidney
RGD
PMID:11078391
RGD:7244179
NCBI chr 1:20,166,019...20,290,803
Ensembl chr 1:21,206,199...21,278,909
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EDNRA
endothelin receptor type A
ISO
associated with Ureteral obstruction;mRNA:increased expression:kidney
RGD
PMID:11078391
RGD:7244179
NCBI chr 4:139,815,336...139,879,600
Ensembl chr 4:151,476,356...151,536,497
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ENG
endoglin
treatment
ISO
associated with Ureteral Obstruction; mRNA, protein:increased expression:kidney (rat) protein:altered expression:kidney (mouse)
RGD
PMID:15033991 PMID:15475654 PMID:16440600
RGD:7248781 RGD:7248782 RGD:7248783
NCBI chr 9:98,934,080...98,973,862
Ensembl chr 9:127,605,608...127,644,641
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EPAS1
endothelial PAS domain protein 1
ISO
RGD
PMID:22299048
RGD:11041600
NCBI chr2A:46,403,411...46,492,734
Ensembl chr2A:47,332,308...47,421,560
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FCAR
Fc alpha receptor
ISO
RGD
PMID:18250479
RGD:7242172
NCBI chr19:51,919,345...51,935,340
Ensembl chr19:60,614,405...60,630,480
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FN1
fibronectin 1
ISO
protein:increased expression:kidney:
RGD
PMID:22052058
RGD:9068421
NCBI chr2B:102,623,568...102,698,747
Ensembl chr2B:221,208,431...221,284,003
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GFER
growth factor, augmenter of liver regeneration
treatment
ISO
associated with ureteral obstruction
RGD
PMID:24844766
RGD:13506791
NCBI chr16:716,640...720,196
Ensembl chr16:2,073,064...2,076,592
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HAVCR1
hepatitis A virus cellular receptor 1
ISO
mRNA:increased expression:kidney cortex:
RGD
PMID:22342673
RGD:7245951
NCBI chr 5:152,429,337...152,459,800
Ensembl chr 5:158,413,073...158,442,481
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IFNG
interferon gamma
no_association treatment
ISO
RGD
PMID:8289579 PMID:10594787
RGD:10755746 RGD:10755751
NCBI chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829
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KRAS
KRAS proto-oncogene, GTPase
treatment
ISO
associated with Ureteral Obstruction
RGD
PMID:22074740
RGD:11060152
NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335
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LCN2
lipocalin 2
ISO
mRNA:increased expression:kidney cortex:
RGD
PMID:22342673
RGD:7245951
NCBI chr 9:99,259,278...99,274,494
Ensembl chr 9:127,940,799...127,944,798
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LEPR
leptin receptor
disease_progression
ISO
RGD
PMID:27465994
RGD:12911217
NCBI chr 1:64,772,612...64,881,886
Ensembl chr 1:66,693,926...66,764,768
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LOC100982531
cytochrome b-245 heavy chain
treatment
ISO
associated with liver transplant;protein:increased expression:kidney:
RGD
PMID:22568654
RGD:11040697
NCBI chr X:30,230,394...30,267,379
Ensembl chr X:37,939,704...37,973,183
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LRP1
LDL receptor related protein 1
ISO
RGD
PMID:18037995
RGD:7243102
NCBI chr12:31,713,938...31,799,287
Ensembl chr12:31,966,149...32,051,979
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MAPK1
mitogen-activated protein kinase 1
ameliorates
ISO
RGD
PMID:21530658 PMID:23698112
RGD:401976483 RGD:7244171
NCBI chr22:3,883,119...3,990,368
Ensembl chr22:20,365,487...20,450,335
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MMP1
matrix metallopeptidase 1
ISO
human gene in mouse model; associated with Diabetes Mellitus, Experimental
RGD
PMID:14674437
RGD:7207134
NCBI chr11:97,730,545...97,739,190
Ensembl chr11:101,221,393...101,230,104
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MMP9
matrix metallopeptidase 9
ISO
RGD
PMID:23006043
RGD:13204847
NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129
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MYC
MYC proto-oncogene, bHLH transcription factor
ISO
associated with Ureteral Obstruction; protein:increased expression:kidney (mouse)
RGD
PMID:19297557
RGD:7207450
NCBI chr 8:124,387,561...124,393,551
Ensembl chr 8:127,131,512...127,136,863
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NCF2
neutrophil cytosolic factor 2
ameliorates
ISO
compared to wild-type littermates
RGD
PMID:22326221
RGD:9587793
NCBI chr 1:159,085,923...159,121,259
Ensembl chr 1:163,243,636...163,278,420
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NPHS1
NPHS1 adhesion molecule, nephrin
treatment
ISO
associated with primary hyperaldosteronism
RGD
PMID:24108235
RGD:38599161
NCBI chr19:32,742,802...32,770,600
Ensembl chr19:41,492,444...41,518,471
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NQO1
NAD(P)H quinone dehydrogenase 1
treatment
ISO
associated with Ureteral Obstruction
RGD
PMID:23056222
RGD:11035221
NCBI chr16:50,090,696...50,106,495
Ensembl chr16:69,470,288...69,489,731
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PLAU
plasminogen activator, urokinase
ISO
associated with Ureteral Obstruction
RGD
PMID:15882265 PMID:19690163
RGD:7241138 RGD:7241268
NCBI chr10:70,433,340...70,441,569
Ensembl chr10:73,105,895...73,113,136
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PPARGC1A
PPARG coactivator 1 alpha
ISO
associated with Ureteral Obstruction; mRNA:decreased expression:kidney (rat)
RGD
PMID:21784897
RGD:7242027
NCBI chr 4:18,196,431...18,876,889
Ensembl chr 4:23,483,377...23,581,212
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RESP18
regulated endocrine specific protein 18
ISO
RGD
PMID:29570433
RGD:14348960
NCBI chr2B:106,584,632...106,590,704
Ensembl chr2B:225,175,221...225,180,916
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SERPINE1
serpin family E member 1
treatment
ISO
protein:increased expression:kidney (rat) associated with Diabetes Mellitus, Experimental
RGD
PMID:26869361 PMID:27018336
RGD:11073616 RGD:11073686
NCBI chr 7:93,267,517...93,279,728
Ensembl chr 7:106,510,130...106,518,450
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SOD2
superoxide dismutase 2
ISO
RGD
PMID:19458120
RGD:7175536
NCBI chr 6:157,562,814...157,610,155
Ensembl chr 6:162,576,082...162,589,960
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STAT6
signal transducer and activator of transcription 6
ISO
associated with Renal Insufficiency, Chronic
RGD
PMID:15647835
RGD:7244136
Ensembl chr12:32,068,679...32,085,099
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TLR2
toll like receptor 2
ISO
associated with Ureteral Obstruction
RGD
PMID:22777483
RGD:7207895
NCBI chr 4:146,024,653...146,091,388
Ensembl chr 4:157,866,977...157,869,331
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TLR4
toll like receptor 4
ISO
associated with Ureteral Obstruction
RGD
PMID:22777483
RGD:7207895
NCBI chr 9:88,827,495...88,840,458
Ensembl chr 9:117,180,550...117,190,711
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TNFRSF1A
TNF receptor superfamily member 1A
ISO
associated with Ureteral Obstruction
RGD
PMID:10564241
RGD:7245536
NCBI chr12:6,457,617...6,470,969
Ensembl chr12:6,374,257...6,387,613
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XDH
xanthine dehydrogenase
treatment
ISO
associated with Ureteral Obstruction
RGD
PMID:22350467
RGD:7247643
NCBI chr2A:31,356,011...31,435,111
Ensembl chr2A:31,425,183...31,504,455
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ACE2
angiotensin converting enzyme 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16723697
NCBI chr X:8,189,267...8,229,415
Ensembl chr X:15,470,896...15,510,891
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ACTA2
actin alpha 2, smooth muscle
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20493835
NCBI chr10:85,660,983...85,678,729
Ensembl chr10:89,164,344...89,182,080
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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
RGD ClinVar
PMID:10700177 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 More...
RGD:1598731
NCBI chr19:35,742,758...35,825,321
Ensembl chr19:44,313,569...44,395,508
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ACTR3
actin related protein 3
ISO
protein:increased expression:renal glomerulus (rat) DNA:missense mutation:cds:p.L111F (rat)
RGD
PMID:18064521 PMID:27251563
RGD:11575049 RGD:2292230
NCBI chr2B:827,184...900,424
Ensembl chr2B:114,373,392...114,445,729
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AGT
angiotensinogen
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:19858406 PMID:21357516
RGD:5129175
NCBI chr 1:206,252,141...206,263,830
Ensembl chr 1:211,279,015...211,291,044
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AGTR1
angiotensin II receptor type 1
ISO
protein:increased expression:kidney cortex
RGD
PMID:21357516
RGD:5129175
NCBI chr 3:145,722,475...145,767,550
Ensembl chr 3:153,341,947...153,345,380
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AGTR2
angiotensin II receptor type 2
ISO
protein:increased expression:kidney cortex
RGD
PMID:21357516
RGD:5129175
NCBI chr X:105,252,903...105,257,171
Ensembl chr X:115,671,594...115,672,685
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ANGPT2
angiopoietin 2
ISO
mRNA, protein:increased expression:glomerulus (rat)
RGD
PMID:16628643
RGD:2314213
NCBI chr 8:718,367...782,534
Ensembl chr 8:6,506,014...6,566,915
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ANLN
anillin, actin binding protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 7:37,011,518...37,075,349
Ensembl chr 7:37,243,917...37,304,137
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ARHGAP24
Rho GTPase activating protein 24
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
ClinVar
NCBI chr 4:77,788,074...78,316,357
Ensembl chr 4:88,619,296...89,045,861
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AXDND1
axonemal dynein light chain domain containing 1
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
ClinVar
PMID:8589695 PMID:10742096 PMID:11805166 PMID:15253708 PMID:15327385 PMID:18823551 PMID:19406966 PMID:20947785 PMID:21355056 PMID:24509478 PMID:24742477 PMID:25741868 PMID:28492532 PMID:30655312 PMID:32581362 More...
NCBI chr 1:154,847,978...155,043,339
Ensembl chr 1:158,536,967...158,724,251
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BDKRB1
bradykinin receptor B1
ISO
RGD
PMID:21412216
RGD:7175321
NCBI chr14:76,885,923...76,894,456
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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 chr 6:31,590,135...31,606,368
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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 chr19:5,708,211...5,753,178
Ensembl chr19:6,629,287...6,674,699
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CASP9
caspase 9
treatment
ISO
RGD
PMID:28245472
RGD:13782344
NCBI chr 1:14,630,659...14,662,865
Ensembl chr 1:15,624,666...15,656,266
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CAT
catalase
ISO
RGD
PMID:22443450
RGD:7205647
NCBI chr11:34,413,253...34,446,831
Ensembl chr11:34,289,603...34,323,160
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CCN2
cellular communication network factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17121042
NCBI chr 6:129,729,572...129,733,113
Ensembl chr 6:133,836,319...133,842,077
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CD2AP
CD2 associated protein
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 6:47,065,284...47,210,746
Ensembl chr 6:48,328,863...48,474,163
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CFB
complement factor B
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 chr 6:31,606,716...31,612,782
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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 chr 1:172,155,882...172,251,632
Ensembl chr 1:176,455,247...176,525,521
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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 4:102,236,868...102,311,359
Ensembl chr 4:112,804,645...112,865,581
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CMAS
cytidine monophosphate N-acetylneuraminic acid synthetase
ISO
MouseDO
NCBI chr12:64,234,241...64,253,306
Ensembl chr12:66,838,670...66,857,774
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COL4A1
collagen type IV alpha 1 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16191423 PMID:18682491
NCBI chr13:91,282,617...91,440,187
Ensembl chr13:110,407,009...110,562,529
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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 chr2B:114,410,703...114,559,336
Ensembl chr2B:233,294,783...233,371,021
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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 chr2B:114,227,135...114,410,564
Ensembl chr2B:233,065,678...233,205,892
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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:97,538,978...97,797,019
Ensembl chr X:108,008,689...108,166,095
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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 chr 4:40,913,015...40,934,594
Ensembl chr 4:46,762,659...46,784,014
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COQ8B
coenzyme Q8B
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
ClinVar
NCBI chr19:37,735,725...37,761,160
Ensembl chr19:46,242,576...46,267,503
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CRB2
crumbs cell polarity complex component 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 9:94,473,423...94,511,285
Ensembl chr 9:123,011,968...123,032,855
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EDN1
endothelin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16191423
NCBI chr 6:12,076,312...12,142,861
Ensembl chr 6:12,462,718...12,503,545
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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 8:67,728,057...68,060,069
Ensembl chr 8:69,387,769...69,551,829
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FN1
fibronectin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16191423
NCBI chr2B:102,623,568...102,698,747
Ensembl chr2B:221,208,431...221,284,003
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HAVCR1
hepatitis A virus cellular receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19225054
NCBI chr 5:152,429,337...152,459,800
Ensembl chr 5:158,413,073...158,442,481
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HR
HR lysine demethylase and nuclear receptor corepressor
ISO
RGD
PMID:21325752
RGD:150520024
NCBI chr 8:21,359,348...21,378,315
Ensembl chr 8:18,298,709...18,316,151
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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 chr 7:67,716,021...67,717,762
Ensembl chr 7:82,751,523...82,752,984
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IL1B
interleukin 1 beta
ISO
RGD
PMID:21412216
RGD:7175321
NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424
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INF2
inverted formin 2
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
ClinVar
PMID:21866090 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30655312 PMID:32451589 More...
NCBI chr14:85,339,478...85,366,336
Ensembl chr14:105,145,779...105,163,154
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ITGB3
integrin subunit beta 3
ISO
RGD
PMID:21804539
RGD:6907385
NCBI chr17:10,134,450...10,194,596
Ensembl chr17:10,353,111...10,392,382
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KIRREL2
kirre like nephrin family adhesion molecule 2
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
ClinVar
PMID:19406966 PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr19:32,769,592...32,785,045
Ensembl chr19:41,518,306...41,533,467
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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 3:49,045,419...49,057,340
Ensembl chr 3:50,125,460...50,137,074
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LIPC
lipase C, hepatic type
ISO
protein:reduced expression:serum (rat)
RGD
PMID:14531811
RGD:2308781
NCBI chr15:37,363,507...37,537,723
Ensembl chr15:55,814,017...55,847,005
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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 9:97,730,850...97,820,554
Ensembl chr 9:126,240,722...126,322,420
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LOC100978865
nuclear RNA export factor 2
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
ClinVar
PMID:23686279
NCBI chr X:91,029,232...91,040,710
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LOC100986730
guanine nucleotide-binding protein G(q) subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16267159
NCBI chr 9:46,816,409...47,129,116
Ensembl chr 9:76,575,815...76,773,849
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LPL
lipoprotein lipase
ISO
RGD
PMID:14531811
RGD:2308781
NCBI chr 8:19,164,541...19,193,100
Ensembl chr 8:16,113,415...16,142,966
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MMP2
matrix metallopeptidase 2
ISO
mRNA, protein:increased expression, increased activity:kidney
RGD
PMID:19357873
RGD:2325738
NCBI chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279
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MMP9
matrix metallopeptidase 9
ISO
mRNA, protein:increased expression, increased activity:kidney
RGD
PMID:19357873
RGD:2325738
NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129
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MPV17
mitochondrial inner membrane protein MPV17
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18818194
NCBI chr2A:27,311,551...27,325,249
Ensembl chr2A:27,399,258...27,414,090
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MYH10
myosin heavy chain 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9678433
NCBI chr17:43,023,922...43,180,159
Ensembl chr17:47,761,322...47,911,192
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MYH9
myosin heavy chain 9
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
ClinVar
PMID:19557653 PMID:23144074 PMID:24033266 PMID:25741868 PMID:26346198 PMID:26467025 PMID:26969326 PMID:27068579 PMID:28492532 More...
NCBI chr22:17,200,623...17,305,826
Ensembl chr22:35,039,101...35,121,618
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MYO1E
myosin IE
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr15:38,106,599...38,343,040
Ensembl chr15:56,413,570...56,649,722
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MYO9A
myosin IXA
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
ClinVar
PMID:25741868 PMID:33412162
NCBI chr15:50,771,747...51,069,700
Ensembl chr15:69,541,318...69,760,771
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NLRP3
NLR family pyrin domain containing 3
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
ClinVar
PMID:12522564 PMID:17509468 PMID:18263599 PMID:18311798 PMID:19319132 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 chr 1:223,052,307...223,084,736
Ensembl chr 1:228,505,147...228,537,216
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NOC3L
NOC3 like DNA replication regulator
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
ClinVar
PMID:25741868
NCBI chr10:91,052,341...91,101,068
Ensembl chr10:94,579,840...94,609,405
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NOS2
nitric oxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16191423
NCBI chr17:28,984,295...29,021,516
Ensembl chr17:29,471,510...29,617,093
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NPHP1
nephrocystin 1
ISO
ClinVar Annotator: match by term: Glomerulosclerosis, focal
ClinVar
PMID:25741868 PMID:28492532
NCBI chr2A:91,520,612...91,602,187
Ensembl chr2A:111,625,267...111,706,205
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NPHP3
nephrocystin 3
ISO
ClinVar Annotator: match by term: Glomerulosclerosis, focal
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 3:129,753,399...129,795,300
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NPHP4
nephrocystin 4
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:4,620,593...4,756,363
Ensembl chr 1:5,878,739...6,012,864
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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:15023481 RGD:38549367
NCBI chr19:32,742,802...32,770,600
Ensembl chr19:41,492,444...41,518,471
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NPHS2
NPHS2 stomatin family member, podocin
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
ClinVar
PMID:1523708 PMID:8589695 PMID:10742096 PMID:11805166 PMID:11805168 PMID:11854170 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: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 chr 1:155,038,753...155,064,332
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NUP93
nucleoporin 93
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
ClinVar
PMID:32581362
NCBI chr16:37,007,481...37,122,785
Ensembl chr16:56,140,546...56,255,561
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PAX2
paired box 2
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
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:33532864 PMID:35444690 More...
NCBI chr10:97,344,978...97,429,086
Ensembl chr10:100,822,676...100,904,028
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PCNA
proliferating cell nuclear antigen
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17121042
NCBI chr20:5,134,930...5,146,603
Ensembl chr20:4,927,731...4,939,440
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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 chr 6:104,963,942...105,272,807
Ensembl chr 6:108,833,223...109,137,055
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PIAS1
protein inhibitor of activated STAT 1
ISO
RGD
PMID:19350281
RGD:8693412
NCBI chr15:47,006,718...47,141,035
Ensembl chr15:65,276,530...65,410,105
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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 chr10:90,731,695...91,065,846
Ensembl chr10:94,278,550...94,575,024
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PPP3CA
protein phosphatase 3 catalytic subunit alpha
ISO
RGD
PMID:26436650
RGD:13515117
NCBI chr 4:93,447,095...93,770,339
Ensembl chr 4:104,113,520...104,435,394
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PPP3CB
protein phosphatase 3 catalytic subunit beta
ISO
RGD
PMID:26436650
RGD:13515117
NCBI chr10:69,984,241...70,043,352
Ensembl chr10:72,443,051...72,501,752
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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 chr10:68,286,359...68,321,349
Ensembl chr10:70,810,881...70,828,781
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RAP1GAP
RAP1 GTPase activating protein
ISO
mRNA:increased expression:renal glomerulus (human)
RGD
PMID:24642466
RGD:9835343
NCBI chr 1:20,790,076...20,860,511
Ensembl chr 1:21,754,733...21,824,405
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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 chr16:33,836,361...33,939,265
Ensembl chr16:52,920,796...53,023,174
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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 chr 4:47,992,589...48,047,528
Ensembl chr 4:53,830,488...53,886,059
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SDCCAG8
SHH signaling and ciliogenesis regulator SDCCAG8
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
ClinVar
PMID:25741868
NCBI chr 1:218,856,571...219,107,855
Ensembl chr 1:224,239,009...224,481,132
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SERPINE1
serpin family E member 1
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:18682491 PMID:22303720
RGD:13208548
NCBI chr 7:93,267,517...93,279,728
Ensembl chr 7:106,510,130...106,518,450
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SHH
sonic hedgehog signaling molecule
ISO
RGD
PMID:24744439
RGD:12859042
NCBI chr 7:147,400,112...147,414,036
Ensembl chr 7:159,114,666...159,126,651
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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 6:71,404,354...71,477,511
Ensembl chr 6:74,702,447...74,760,557
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SMARCAL1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar 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 More...
NCBI chr2B:103,672,934...103,743,802
Ensembl chr2B:222,276,353...222,347,258
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SPP1
secreted phosphoprotein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9294829
NCBI chr 4:80,263,711...80,271,466
Ensembl chr 4:90,988,200...90,995,935
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SRGAP1
SLIT-ROBO Rho GTPase activating protein 1
ISO
MouseDO
NCBI chr12:24,760,093...25,066,794
Ensembl chr12:25,262,893...25,564,180
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TGFB1
transforming growth factor beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16191423 PMID:18682491 PMID:20493835
NCBI chr19:38,324,009...38,347,003
Ensembl chr19:46,831,659...46,852,973
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TMEM63C
transmembrane protein 63C
ISO
protein:decreased expression:kidney,renal glomerulus (human)
RGD
PMID:30900988
RGD:15023481
NCBI chr14:57,734,857...57,812,529
Ensembl chr14:76,974,416...77,011,555
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TNF
tumor necrosis factor
ISO
protein:increased expression:serum
RGD
PMID:21221075
RGD:7245511
NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
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TNFAIP2
TNF alpha induced protein 2
ISO
MouseDO
NCBI chr14:83,745,176...83,759,157
Ensembl chr14:103,561,181...103,570,309
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TNFRSF1A
TNF receptor superfamily member 1A
ISO
protein:increased expression:serum
RGD
PMID:21221075
RGD:7245511
NCBI chr12:6,457,617...6,470,969
Ensembl chr12:6,374,257...6,387,613
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TNFRSF1B
TNF receptor superfamily member 1B
ISO
protein:increased expression:serum
RGD
PMID:21221075
RGD:7245511
NCBI chr 1:10,915,743...10,957,765
Ensembl chr 1:12,130,663...12,172,646
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TRPC6
transient receptor potential cation channel subfamily C member 6
treatment
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal DNA:SNP:exon:p.P15S (human)
RGD ClinVar
PMID:19936226 PMID:21839714 PMID:22980509 PMID:23385000 PMID:25019165 PMID:25741868 PMID:26467025 PMID:28492532 PMID:32581362 More...
RGD:7247440 RGD:7247444 RGD:7247445
NCBI chr11:96,414,498...96,551,670
Ensembl chr11:99,919,410...100,050,685
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VLDLR
very low density lipoprotein receptor
ISO
protein:decreased expression:adipose tissue, skeletal muscle (rat)
RGD
PMID:11786096
RGD:2324671
NCBI chr 9:2,428,639...2,463,796
Ensembl chr 9:2,621,199...2,653,980
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VWF
von Willebrand factor
ISO
RGD
PMID:22295953
RGD:7207031
NCBI chr12:6,073,836...6,249,806
Ensembl chr12:5,990,612...6,165,153
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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 chr11:32,349,807...32,398,494
Ensembl chr11:32,238,720...32,287,249
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ZMPSTE24
zinc metallopeptidase STE24
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17152860
NCBI chr 1:39,545,264...39,589,721
Ensembl chr 1:40,869,076...40,912,747
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ACE
angiotensin I converting enzyme
treatment
ISO
RGD
PMID:8505110
RGD:12880006
NCBI chr17:57,556,294...57,577,294
Ensembl chr17:62,702,341...62,733,853
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ACTN4
actinin alpha 4
ISO
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis | ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 1
OMIM ClinVar
PMID:10700177 PMID:16251236 PMID:18594871 PMID:19142020 PMID:19956976 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 chr19:35,742,758...35,825,321
Ensembl chr19:44,313,569...44,395,508
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ARHGAP24
Rho GTPase activating protein 24
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 1
ClinVar
NCBI chr 4:77,788,074...78,316,357
Ensembl chr 4:88,619,296...89,045,861
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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 chr 6:31,590,135...31,606,368
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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 chr19:5,708,211...5,753,178
Ensembl chr19:6,629,287...6,674,699
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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 chr 6:31,606,716...31,612,782
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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 4:102,236,868...102,311,359
Ensembl chr 4:112,804,645...112,865,581
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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 8:67,728,057...68,060,069
Ensembl chr 8:69,387,769...69,551,829
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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 3:49,045,419...49,057,340
Ensembl chr 3:50,125,460...50,137,074
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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 chr22:17,200,623...17,305,826
Ensembl chr22:35,039,101...35,121,618
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NLRP3
NLR family pyrin domain containing 3
ISO
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis
ClinVar
PMID:12522564 PMID:17509468 PMID:18263599 PMID:18311798 PMID:19319132 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 chr 1:223,052,307...223,084,736
Ensembl chr 1:228,505,147...228,537,216
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NPHP1
nephrocystin 1
ISO
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis
ClinVar
PMID:25741868 PMID:28492532
NCBI chr2A:91,520,612...91,602,187
Ensembl chr2A:111,625,267...111,706,205
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NPHP3
nephrocystin 3
ISO
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 3:129,753,399...129,795,300
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NUP107
nucleoporin 107
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 1
ClinVar
NCBI chr12:66,198,838...66,254,505
Ensembl chr12:68,981,409...69,035,642
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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:33532864 PMID:35444690 More...
NCBI chr10:97,344,978...97,429,086
Ensembl chr10:100,822,676...100,904,028
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PLCE1
phospholipase C epsilon 1
ISO
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis
ClinVar
PMID:25741868 PMID:28492532
NCBI chr10:90,731,695...91,065,846
Ensembl chr10:94,278,550...94,575,024
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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 chr16:33,836,361...33,939,265
Ensembl chr16:52,920,796...53,023,174
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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 chr 4:47,992,589...48,047,528
Ensembl chr 4:53,830,488...53,886,059
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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 6:71,404,354...71,477,511
Ensembl chr 6:74,702,447...74,760,557
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SMARCAL1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 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 More...
NCBI chr2B:103,672,934...103,743,802
Ensembl chr2B:222,276,353...222,347,258
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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 chr11:96,414,498...96,551,670
Ensembl chr11:99,919,410...100,050,685
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TRPC6
transient receptor potential cation channel subfamily C member 6
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 2 | ClinVar Annotator: match by term: TRPC6-related condition
OMIM ClinVar
PMID:2298509 PMID:10200986 PMID:15879175 PMID:15924139 PMID: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:31937884 PMID:33532864 PMID:33884742 PMID:35051376 PMID:35064937 PMID:35749414 PMID:35913909 More...
NCBI chr11:96,414,498...96,551,670
Ensembl chr11:99,919,410...100,050,685
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CD2AP
CD2 associated protein
ISO
ClinVar Annotator: match by term: CD2AP-related condition | ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 3, susceptibility to
OMIM ClinVar
PMID: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 6:47,065,284...47,210,746
Ensembl chr 6:48,328,863...48,474,163
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ADSS1
adenylosuccinate synthase 1
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5
ClinVar
PMID:28492532
Ensembl chr14:105,169,769...105,190,333
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AHNAK2
AHNAK nucleoprotein 2
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5
ClinVar
PMID:28492532
NCBI chr14:85,587,016...85,627,319
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AKT1
AKT serine/threonine kinase 1
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5
ClinVar
PMID:28492532
NCBI chr14:85,417,229...85,444,722
Ensembl chr14:105,208,128...105,236,756
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BRF1
BRF1 RNA polymerase III transcription initiation factor subunit
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5
ClinVar
PMID:28492532
NCBI chr14:85,851,908...85,950,489
Ensembl chr14:105,635,757...105,714,465
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BTBD6
BTB domain containing 6
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5
ClinVar
PMID:28492532
NCBI chr14:85,883,988...85,886,491
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CDCA4
cell division cycle associated 4
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5
ClinVar
PMID:28492532
NCBI chr14:85,659,022...85,670,182
Ensembl chr14:105,444,672...105,445,397
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CEP170B
centrosomal protein 170B
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5
ClinVar
PMID:28492532
NCBI chr14:85,515,684...85,548,410
Ensembl chr14:105,307,591...105,332,523
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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 chr14:85,634,349...85,649,411
Ensembl chr14:105,419,834...105,441,870
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GPR132
G protein-coupled receptor 132
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5
ClinVar
PMID:28492532
NCBI chr14:85,697,589...85,716,764
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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
OMIM ClinVar
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:25741915 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:32451589 PMID:32604935 PMID:32901917 PMID:33443052 PMID:33712733 PMID:34120753 PMID:36506246 More...
NCBI chr14:85,339,478...85,366,336
Ensembl chr14:105,145,779...105,163,154
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JAG2
jagged canonical Notch ligand 2
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5
ClinVar
PMID:28492532
NCBI chr14:85,785,586...85,812,056
Ensembl chr14:105,569,837...105,585,878
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NUDT14
nudix hydrolase 14
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5
ClinVar
PMID:28492532
NCBI chr14:85,816,561...85,824,887
Ensembl chr14:105,600,783...105,605,538
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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 chr14:85,935,807...86,035,935
Ensembl chr14:105,737,878...105,810,349
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PLD4
phospholipase D family member 4
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5
ClinVar
PMID:28492532
NCBI chr14:85,574,724...85,587,176
Ensembl chr14:105,360,584...105,369,247
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SIVA1
SIVA1 apoptosis inducing factor
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5
ClinVar
PMID:28492532
NCBI chr14:85,404,148...85,408,254
Ensembl chr14:105,196,118...105,202,678
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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 chr14:85,449,536...85,453,692
Ensembl chr14:105,243,998...105,245,266
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LDHAL6B
lactate dehydrogenase A like 6B
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 6
ClinVar
PMID:25741868
NCBI chr15:38,176,451...38,179,189
Ensembl chr15:56,484,343...56,485,488
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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 chr15:38,106,599...38,343,040
Ensembl chr15:56,413,570...56,649,722
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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:21108633 PMID:21654726 PMID:22213154 PMID:22350371 PMID:23539225 PMID:24429398 PMID:24676634 PMID:25741868 PMID:27226968 PMID:27657687 PMID:28492532 PMID:28566479 PMID:31001663 PMID:32203253 PMID:32604935 PMID:32776440 PMID:33532864 PMID:34696790 PMID:35444690 PMID:36549658 More...
NCBI chr10:97,344,978...97,429,086
Ensembl chr10:100,822,676...100,904,028
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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:28492532 PMID:29869118
NCBI chr 7:37,011,518...37,075,349
Ensembl chr 7:37,243,917...37,304,137
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SYNPO
synaptopodin
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 8
ClinVar
PMID:25741916 PMID:33615071
NCBI chr 5:146,048,956...146,083,490
Ensembl chr 5:152,046,207...152,085,595
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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:27004616 PMID:27942854 PMID:28492532 PMID:30212996 PMID:32581362 PMID:33532864 More...
NCBI chr 9:94,473,423...94,511,285
Ensembl chr 9:123,011,968...123,032,855
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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 chr10:99,242,187...99,256,342
Ensembl chr10:102,707,199...102,720,565
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ACE
angiotensin I converting enzyme
treatment
ISO
RGD
PMID:21718676
RGD:12879389
NCBI chr17:57,556,294...57,577,294
Ensembl chr17:62,702,341...62,733,853
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AGER
advanced glycosylation end-product specific receptor
treatment
ISO
associated with Diabetic Nephropathies
RGD
PMID:20554645 PMID:23046363
RGD:7243247 RGD:7244139
NCBI chr 6:31,828,363...31,831,981
Ensembl chr 6:32,708,251...32,711,641
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AGTR1
angiotensin II receptor type 1
ISO
mRNA:decreased expression:kidney
RGD
PMID:12495295
RGD:6903859
NCBI chr 3:145,722,475...145,767,550
Ensembl chr 3:153,341,947...153,345,380
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AGTR2
angiotensin II receptor type 2
ISO
mRNA:increased expression:kidney associated with Kidney Failure, Chronic
RGD
PMID:12495295 PMID:20042458 PMID:20631980
RGD:6903284 RGD:6903859 RGD:6903882
NCBI chr X:105,252,903...105,257,171
Ensembl chr X:115,671,594...115,672,685
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APOE
apolipoprotein E
ISO
protein:increased expression:renal glomerulus (rat)
RGD
PMID:21907828 PMID:22207560
RGD:6903199 RGD:6903285
NCBI chr19:41,853,669...41,857,252
Ensembl chr19:50,459,906...50,463,490
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COL3A1
collagen type III alpha 1 chain
ISO
RGD
PMID:20610530
RGD:7257557
NCBI chr2B:76,285,115...76,322,703
Ensembl chr2B:194,204,613...194,242,956
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ESR2
estrogen receptor 2
susceptibility
ISO
protein:decreased expression:renal glomerulus (mouse)
RGD
PMID:12000739
RGD:7364801
NCBI chr14:44,807,875...44,919,780
Ensembl chr14:63,064,402...63,131,303
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FBN1
fibrillin 1
ISO
associated with Hypertension
RGD
PMID:16380460
RGD:7365080
NCBI chr15:27,358,780...27,593,539
Ensembl chr15:45,682,450...45,918,111
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HBEGF
heparin binding EGF like growth factor
induced
ISO
RGD
PMID:16107576
RGD:1556472
NCBI chr 5:135,699,553...135,713,366
Ensembl chr 5:141,816,402...141,830,531
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IL1B
interleukin 1 beta
ISO
associated with Hypertension
RGD
PMID:19948880
RGD:7175503
NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424
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MMP1
matrix metallopeptidase 1
ISO
protein:decreased expression:kidney (rat) associated with Hyperhomocysteinemia
RGD
PMID:20406136 PMID:21275176
RGD:7207203 RGD:7207363
NCBI chr11:97,730,545...97,739,190
Ensembl chr11:101,221,393...101,230,104
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MMP9
matrix metallopeptidase 9
ISO
associated with Hyperhomocysteinemia associated with Obesity;mRNA:decreased expression:glomerulus
RGD
PMID:9300240 PMID:20406136
RGD:7207203 RGD:8547929
NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129
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NPHS1
NPHS1 adhesion molecule, nephrin
treatment
ISO
RGD
PMID:22125642
RGD:40902998
NCBI chr19:32,742,802...32,770,600
Ensembl chr19:41,492,444...41,518,471
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PLA2G7
phospholipase A2 group VII
ISO
RGD
PMID:16213192
RGD:7248790
NCBI chr 6:46,264,262...46,318,487
Ensembl chr 6:47,558,861...47,590,212
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PLEKHA7
pleckstrin homology domain containing A7
ameliorates
ISO
compared to wild type
RGD
PMID:25136115
RGD:11079199
NCBI chr11:16,861,464...17,095,610
Ensembl chr11:16,555,368...16,647,075
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PPARG
peroxisome proliferator activated receptor gamma
treatment
ISO
RGD
PMID:11318962
RGD:8553043
NCBI chr 3:12,215,322...12,361,669
Ensembl chr 3:12,622,397...12,705,060
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RGS2
regulator of G protein signaling 2
susceptibility
ISO
associated with Hypertension
RGD
PMID:26606876
RGD:13524570
NCBI chr 1:168,273,112...168,276,348
Ensembl chr 1:172,566,701...172,569,955
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RNLS
renalase, FAD dependent amine oxidase
ISO
RGD
PMID:24022426
RGD:7327155
NCBI chr10:84,996,999...85,304,240
Ensembl chr10:88,503,683...88,808,990
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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 7:93,267,517...93,279,728
Ensembl chr 7:106,510,130...106,518,450
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SHC1
SHC adaptor protein 1
ameliorates
ISO
RGD
PMID:27270176
RGD:12792230
NCBI chr 1:130,310,778...130,323,001
Ensembl chr 1:133,920,532...133,929,008
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SLC2A1
solute carrier family 2 member 1
ISO
RGD
PMID:19918242
RGD:12879501
NCBI chr 1:42,224,273...42,257,184
Ensembl chr 1:43,600,733...43,634,143
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SPP1
secreted phosphoprotein 1
ISO
RGD
PMID:12675855
RGD:6903837
NCBI chr 4:80,263,711...80,271,466
Ensembl chr 4:90,988,200...90,995,935
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SYNPO
synaptopodin
treatment
ISO
RGD
PMID:22125642
RGD:40902998
NCBI chr 5:146,048,956...146,083,490
Ensembl chr 5:152,046,207...152,085,595
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TNFRSF1B
TNF receptor superfamily member 1B
ISO
associated with Hypertension
RGD
PMID:23389459
RGD:7245475
NCBI chr 1:10,915,743...10,957,765
Ensembl chr 1:12,130,663...12,172,646
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TULP3
TUB like protein 3
ISO
ClinVar Annotator: match by term: Hepatorenocardiac degenerative fibrosis
OMIM ClinVar
PMID:25741868 PMID:35397207
NCBI chr12:3,012,890...3,061,831
Ensembl chr12:2,944,769...2,993,278
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ANXA5
annexin A5
ISO
protein:increased expression:urine
RGD
PMID:17999093
RGD:7242031
NCBI chr 4:113,868,218...113,897,243
Ensembl chr 4:125,006,038...125,034,972
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AVIL
advillin
ISO
ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome
ClinVar
PMID:25741868 PMID:29058690
NCBI chr12:31,108,569...31,129,307
Ensembl chr12:31,369,872...31,389,847
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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: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:26467025 PMID:26594346 PMID:26668027 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:33305316 PMID:33532864 PMID:36167728 More...
NCBI chr 1:154,847,978...155,043,339
Ensembl chr 1:158,536,967...158,724,251
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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 chr2B:114,410,703...114,559,336
Ensembl chr2B:233,294,783...233,371,021
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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 chr2B:114,227,135...114,410,564
Ensembl chr2B:233,065,678...233,205,892
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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:97,538,978...97,797,019
Ensembl chr X:108,008,689...108,166,095
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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 9:94,473,423...94,511,285
Ensembl chr 9:123,011,968...123,032,855
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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
OMIM ClinVar
PMID:1523708 PMID:8589695 PMID:8606597 PMID:9536098 PMID:10742096 PMID:11729243 PMID:11733557 PMID:11805166 PMID:11805168 PMID:11854170 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:25720465 PMID:25741868 PMID:25741914 PMID:25741915 PMID:25741916 PMID:25852895 PMID:25903641 PMID:26138234 PMID:26211502 PMID:26413278 PMID:26420286 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:34031707 PMID:34405919 PMID:34853150 PMID:36167728 More...
NCBI chr 1:155,038,753...155,064,332
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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 chr 5:138,634,278...139,089,171
Ensembl chr 5:144,741,452...144,865,269
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NUP205
nucleoporin 205
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26878725
NCBI chr 7:127,525,777...127,620,680
Ensembl chr 7:140,037,092...140,118,983
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NUP93
nucleoporin 93
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26878725
NCBI chr16:37,007,481...37,122,785
Ensembl chr16:56,140,546...56,255,561
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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:33532864 PMID:35444690 More...
NCBI chr10:97,344,978...97,429,086
Ensembl chr10:100,822,676...100,904,028
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PLA2G7
phospholipase A2 group VII
disease_progression
ISO
RGD
PMID:9853251
RGD:7248793
NCBI chr 6:46,264,262...46,318,487
Ensembl chr 6:47,558,861...47,590,212
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PLCE1
phospholipase C epsilon 1
ISO
DNA:mutations: :
RGD
PMID:20591883
RGD:7257521
NCBI chr10:90,731,695...91,065,846
Ensembl chr10:94,278,550...94,575,024
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SMARCAL1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 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 chr2B:103,672,934...103,743,802
Ensembl chr2B:222,276,353...222,347,258
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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 chr11:96,414,498...96,551,670
Ensembl chr11:99,919,410...100,050,685
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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 chr12:31,123,500...31,154,310
Ensembl chr12:31,404,783...31,415,595 Ensembl chr12:31,404,783...31,415,595
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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:9499425 PMID:9529364 PMID:9536098 PMID:9607189 PMID:10094551 PMID:10470095 PMID:10505700 PMID:10762296 PMID:11182928 PMID:12050205 PMID:12970737 PMID:15150775 PMID:15509792 PMID:17496156 PMID:17541636 PMID:17576681 PMID:17694336 PMID:17853480 PMID:19484379 PMID:20442690 PMID:21499692 PMID:22099579 PMID:23295293 PMID:23497137 PMID:23515051 PMID:23715653 PMID:23935527 PMID:24033266 PMID:24161391 PMID:24856380 PMID:25501161 PMID:25741868 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 More...
NCBI chr11:32,349,807...32,398,494
Ensembl chr11:32,238,720...32,287,249
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XPO5
exportin 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26878725
NCBI chr 6:43,114,408...43,168,113
Ensembl chr 6:44,406,765...44,458,029
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LMX1B
LIM homeobox transcription factor 1 beta
ISO
ClinVar Annotator: match by term: Nail-patella-like renal disease
OMIM ClinVar
PMID:23687361 PMID:24042019 PMID:25741868 PMID:26560070 PMID:28059119 PMID:28492532 PMID:29127259 PMID:32356190 PMID:32581362 PMID:32791958 PMID:33532864 More...
NCBI chr 9:97,730,850...97,820,554
Ensembl chr 9:126,240,722...126,322,420
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COL1A1
collagen type I alpha 1 chain
ameliorates
ISO
RGD
PMID:32065356
RGD:401824679
NCBI chr17:44,274,349...44,291,764
Ensembl chr17:49,150,677...49,166,677
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EPO
erythropoietin
treatment
ISO
RGD
PMID:22678524
RGD:10401065
NCBI chr 7:92,747,671...92,750,886
Ensembl chr 7:106,148,062...106,150,974
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GCLM
glutamate-cysteine ligase modifier subunit
ISO
RGD
PMID:21152904
RGD:5134352
NCBI chr 1:96,548,850...96,573,273
Ensembl chr 1:95,278,665...95,297,893
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LOC100969502
left-right determination factor 1
ameliorates
ISO
RGD
PMID:32065356
RGD:401824679
NCBI chr 1:201,347,411...201,351,295
Ensembl chr 1:206,348,419...206,350,787
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LOC100980965
zinc-alpha-2-glycoprotein
exacerbates treatment
ISO
associated with ureteral obstruction;
RGD
PMID:25788525
RGD:153350149
NCBI chr 7:91,999,717...92,009,066
Ensembl chr 7:105,432,782...105,442,219
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SMAD3
SMAD family member 3
ameliorates
ISO
RGD
PMID:32065356
RGD:401824679
NCBI chr15:46,013,764...46,143,126
Ensembl chr15:64,284,949...64,414,185
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TGFB1
transforming growth factor beta 1
ameliorates
ISO
mRNA:increased expression:kidney
RGD
PMID:15007308 PMID:23249995 PMID:32065356
RGD:1304308 RGD:13446413 RGD:401824679
NCBI chr19:38,324,009...38,347,003
Ensembl chr19:46,831,659...46,852,973
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TGFBI
transforming growth factor beta induced
ISO
mRNA, protein:increased expression:kidney
RGD
PMID:15007308
RGD:1304308
NCBI chr 5:131,420,403...131,455,265
Ensembl chr 5:137,559,321...137,596,392
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