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.
G
Ace
angiotensin I converting enzyme
susceptibility
ISO
associated with Purpura, Schoenlein-Henoch;DNA:polymorphisms,haplotype: :-240A>T,2350A>G (human)
RGD
PMID:22895845
RGD:11533935
NCBI chr11:105,858,774...105,880,790
Ensembl chr11:105,858,771...105,880,790
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Agtr1a
angiotensin II receptor, type 1a
ISO
RGD
PMID:12077487
RGD:6903864
NCBI chr13:30,520,339...30,566,850
Ensembl chr13:30,520,424...30,566,850
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Alb
albumin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:161594 PMID:2945356 PMID:3656695 PMID:4065304 PMID:9380243 PMID:16326737 More...
NCBI chr 5:90,608,729...90,624,461
Ensembl chr 5:90,608,756...90,624,461
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Bdkrb1
bradykinin receptor, beta 1
IMP
RGD
PMID:18809736
RGD:7241554
NCBI chr12:105,570,350...105,571,770
Ensembl chr12:105,569,344...105,571,687
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Casp8
caspase 8
treatment
ISO
RGD
PMID:28039298
RGD:13782307
NCBI chr 1:58,834,553...58,886,663
Ensembl chr 1:58,834,533...58,886,662
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Ccl2
C-C motif chemokine ligand 2
ISO
associated with Purpura, Schoenlein-Henoch;protein:increased expression:urine (human)
RGD
PMID:24414608
RGD:11528565
NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279
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Ccl3
C-C motif chemokine ligand 3
ISO
RGD
PMID:21370451
RGD:7175323
NCBI chr11:83,538,669...83,540,204
Ensembl chr11:83,538,670...83,540,181
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Ccnd2
cyclin D2
ISO
mRNA:increased expression:kidney cortex
RGD
PMID:15654821
RGD:2289180
NCBI chr 6:127,102,125...127,131,913
Ensembl chr 6:127,102,125...127,129,156
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Ccr5
C-C motif chemokine receptor 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26055553
NCBI chr 9:123,921,557...123,934,153
Ensembl chr 9:123,921,580...123,947,736
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Cxcr2
C-X-C motif chemokine receptor 2
ISO
RGD
PMID:11313419
RGD:7257685
NCBI chr 1:74,193,153...74,200,405
Ensembl chr 1:74,193,150...74,200,405
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Cyp1a1
cytochrome P450, family 1, subfamily a, polypeptide 1
IEP
mRNA, protein:increased expression:kidney
RGD
PMID:21907489
RGD:7175305
NCBI chr 9:57,595,211...57,611,107
Ensembl chr 9:57,595,211...57,611,107
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Cyp2j9
cytochrome P450, family 2, subfamily j, polypeptide 9
ISO
RGD
PMID:25840911
RGD:12904676
NCBI chr 4:96,456,661...96,480,748
Ensembl chr 4:96,456,666...96,479,815
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Edn1
endothelin 1
treatment
ISO
mRNA, protein:increased expression:multiple (rat)
RGD
PMID:9176845
RGD:8662324
NCBI chr13:42,454,952...42,461,466
Ensembl chr13:42,454,952...42,461,466
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Fas
Fas cell surface death receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26590112
NCBI chr19:34,267,926...34,305,175
Ensembl chr19:34,268,066...34,305,172
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Fcgr4
Fc receptor, IgG, low affinity IV
IMP
RGD
PMID:16520389
RGD:5508402
NCBI chr 1:170,846,495...170,857,330
Ensembl chr 1:170,846,489...170,857,330
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Foxc2
forkhead box C2
ISO
DNA:insertion:1006insA
RGD
PMID:15523639
RGD:1601217
NCBI chr 8:121,842,910...121,845,634
Ensembl chr 8:121,842,910...121,845,634
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H2-M2
histocompatibility 2, M region locus 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:3084782
NCBI chr17:37,791,742...37,794,445
Ensembl chr17:37,791,742...37,794,443
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Icam1
intercellular adhesion molecule 1
treatment
ISO
RGD
PMID:8773354
RGD:8547716
NCBI chr 9:20,927,236...20,940,110
Ensembl chr 9:20,927,281...20,940,113
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Ifng
interferon gamma
ISO
associated with bacterial infection;protein:increased expression:serum
RGD
PMID:22752353
RGD:6893461
NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797
G
Il4
interleukin 4
ISO
RGD
PMID:7967345
RGD:5128564
NCBI chr11:53,503,287...53,509,492
Ensembl chr11:53,493,809...53,509,496
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Itga4
integrin alpha 4
treatment
ISO
RGD
PMID:9773789
RGD:9698422
NCBI chr 2:79,084,767...79,163,458
Ensembl chr 2:79,085,770...79,163,467
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Itgal
integrin alpha L
treatment
ISO
RGD
PMID:8773354
RGD:8547716
NCBI chr 7:126,895,404...126,934,309
Ensembl chr 7:126,895,432...126,934,310
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Itgam
integrin alpha M
IMP
RGD
PMID:21900205
RGD:7207258
NCBI chr 7:127,661,812...127,717,663
Ensembl chr 7:127,661,812...127,717,663
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Itgb2
integrin beta 2
treatment
ISO
RGD
PMID:8773354
RGD:8547716
NCBI chr10:77,366,164...77,401,542
Ensembl chr10:77,366,086...77,401,542
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Lepr
leptin receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29988851
NCBI chr 4:101,574,393...101,676,375
Ensembl chr 4:101,574,601...101,672,549
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Lgals1
lectin, galactose binding, soluble 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:11044214
NCBI chr15:78,810,925...78,814,665
Ensembl chr15:78,810,925...78,814,665
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Lgals3
lectin, galactose binding, soluble 3
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:11044214
NCBI chr14:47,611,317...47,623,624
Ensembl chr14:47,605,208...47,623,617
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Lgals9
lectin, galactose binding, soluble 9
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:11044214
NCBI chr11:78,853,805...78,875,750
Ensembl chr11:78,853,800...78,875,772
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mt-Atp8
ATP synthase 8, mitochondrial
susceptibility
IAGP
DNA:transversion: :m.7778G>T (mouse)
RGD
PMID:19759059
RGD:5490297
NCBI chr MT:7,766...7,969
Ensembl chr MT:7,766...7,969
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Mtor
mechanistic target of rapamycin kinase
IMP
RGD
PMID:22696604
RGD:7245508
NCBI chr 4:148,533,039...148,642,142
Ensembl chr 4:148,533,068...148,642,140
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Nos3
nitric oxide synthase 3, endothelial cell
susceptibility
ISO
associated with Purpura, Schoenlein-Henoch;DNA:polymorphisms,haplotype: :894G>T,-786T>C (human)
RGD
PMID:22895845
RGD:11533935
NCBI chr 5:24,569,772...24,589,472
Ensembl chr 5:24,569,808...24,589,472
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Parp1
poly (ADP-ribose) polymerase family, member 1
ISO
associated with Lupus Erythematosus, Systemic;DNA:SNPs:promoter, exon:-1963A>G, 28077G>A (human)
RGD
PMID:16461442
RGD:1601085
NCBI chr 1:180,396,456...180,428,564
Ensembl chr 1:180,396,489...180,428,819
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Plau
plasminogen activator, urokinase
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:12671112
NCBI chr14:20,886,730...20,893,456
Ensembl chr14:20,886,728...20,893,453
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Ptk2
PTK2 protein tyrosine kinase 2
treatment
ISO
RGD
PMID:25176084
RGD:10041073
NCBI chr15:73,076,951...73,297,192
Ensembl chr15:73,076,951...73,295,129
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Ptk2b
PTK2 protein tyrosine kinase 2 beta
treatment
ISO
RGD
PMID:25176084
RGD:10041073
NCBI chr14:66,390,706...66,518,549
Ensembl chr14:66,390,706...66,518,501
G
Serpinb7
serine (or cysteine) peptidase inhibitor, clade B, member 7
ISO
RGD
PMID:11473647
RGD:70611
NCBI chr 1:107,350,418...107,380,419
Ensembl chr 1:107,327,385...107,380,419
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Smad6
SMAD family member 6
ISO
mRNA:decreased expression:kidney
RGD
PMID:11170839
RGD:2315074
NCBI chr 9:63,860,358...63,929,374
Ensembl chr 9:63,860,358...63,929,341
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Smad7
SMAD family member 7
ISO
mRNA:decreased expression:kidney
RGD
PMID:11170839
RGD:2315074
NCBI chr18:75,500,436...75,529,006
Ensembl chr18:75,500,600...75,529,006
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Snrpd1
small nuclear ribonucleoprotein D1
IDA
associated with Lupus Erythematosus, Systemic in humans
RGD
PMID:11771960
RGD:10755697
NCBI chr18:10,617,796...10,628,230
Ensembl chr18:10,617,775...10,642,079
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Cxcl15
C-X-C motif chemokine ligand 15
susceptibility
ISO
DNA:SNP:promoter:g.-251T>A (rs4073) (human)
RGD
PMID:22325052
RGD:7207860
NCBI chr 5:90,942,393...90,950,926
Ensembl chr 5:90,942,393...90,950,926
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Cxcr2
C-X-C motif chemokine receptor 2
susceptibility
ISO
DNA:polymorphism:3' utr:1208C>T (human)
RGD
PMID:22325052
RGD:7207860
NCBI chr 1:74,193,153...74,200,405
Ensembl chr 1:74,193,150...74,200,405
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Rbp4
retinol binding protein 4, plasma
ISO
protein:decreased expression:blood plasma (human)
RGD
PMID:20163326
RGD:329853301
NCBI chr19:38,105,068...38,113,769
Ensembl chr19:38,105,077...38,113,729
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Apoa1
apolipoprotein A-I
ISO
RGD
PMID:22659101
RGD:7241207
NCBI chr 9:46,139,928...46,141,767
Ensembl chr 9:46,139,878...46,141,764
G
Tlr2
toll-like receptor 2
IMP
RGD
PMID:22194975
RGD:7207900
NCBI chr 3:83,743,579...83,749,045
Ensembl chr 3:83,743,579...83,749,074
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Tlr4
toll-like receptor 4
IMP
RGD
PMID:22194975
RGD:7207900
NCBI chr 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521
G
Cldn14
claudin 14
ISO
ClinVar Annotator: match by term: Alport syndrome
ClinVar
PMID:30311386
NCBI chr16:93,715,919...93,809,733
Ensembl chr16:93,715,919...93,809,696
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Col4a3
collagen, type IV, alpha 3
susceptibility
ISO
DNA:deletion, nonsense mutations ClinVar Annotator: match by term: Alport syndrome | ClinVar Annotator: match by term: Congenital hereditary hematuria CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:1400291 PMID:2557550 PMID:7780062 PMID:7987301 PMID:7987396 PMID:8956999 PMID:9195222 PMID:9269635 PMID:9536098 PMID:9724608 PMID:11044206 PMID:11134255 PMID:11961012 PMID:12028435 PMID:12631109 PMID:14582039 PMID:14871398 PMID:15086897 PMID:15618242 PMID:15880327 PMID:15954103 PMID:16199547 PMID:17216251 PMID:17576681 PMID:18385178 PMID:18436078 PMID:19525337 PMID:20301386 PMID:20847057 PMID:21157337 PMID:21862460 PMID:21897443 PMID:22887978 PMID:23297803 PMID:23325022 PMID:23927549 PMID:23967202 PMID:24033266 PMID:24033287 PMID:24052634 PMID:24130771 PMID:24633401 PMID:24854265 PMID:24944784 PMID:25229338 PMID:25307543 PMID:25407002 PMID:25450602 PMID:25514610 PMID:25575550 PMID:25596306 PMID:25741868 PMID:25888712 PMID:26277931 PMID:26346198 PMID:26411580 PMID:26467025 PMID:26740551 PMID:26795916 PMID:26809805 PMID:26934356 PMID:26940125 PMID:27281700 PMID:27391953 PMID:27461219 PMID:27485810 PMID:27627812 PMID:27859054 PMID:27932480 PMID:28117080 PMID:28492532 PMID:28542346 PMID:28570636 PMID:28632965 PMID:28658201 PMID:28780565 PMID:28968992 PMID:29098738 PMID:29127259 PMID:29204651 PMID:29270492 PMID:29271581 PMID:29644057 PMID:29742505 PMID:29801666 PMID:29854973 PMID:29924831 PMID:29946535 PMID:29981437 PMID:30076350 PMID:30245029 PMID:30295827 PMID:30311386 PMID:30406062 PMID:30450445 PMID:30476138 PMID:30487145 PMID:30506145 PMID:30586318 PMID:30647093 PMID:30661074 PMID:30773290 PMID:30819905 PMID:30881523 PMID:30883042 PMID:31027891 PMID:31130284 PMID:31256874 PMID:31306228 PMID:31328266 PMID:31477057 PMID:31625567 PMID:31738409 PMID:31865346 PMID:32359821 PMID:32647767 PMID:32703181 PMID:32723786 PMID:32860008 PMID:32887937 PMID:32939031 PMID:33040356 PMID:33179747 PMID:33226606 PMID:33229591 PMID:33369211 PMID:33532864 PMID:33712733 PMID:33772369 PMID:33774048 PMID:33838161 PMID:33854215 PMID:33980730 PMID:34013111 PMID:34215756 PMID:34400539 PMID:34426522 PMID:34440452 PMID:34662886 PMID:34746741 PMID:34906502 PMID:35090027 PMID:35102923 PMID:35177655 PMID:35301649 PMID:35325889 PMID:35369551 PMID:35372954 PMID:35386907 PMID:35880347 PMID:36013122 PMID:36100708 PMID:36117978 PMID:36130833 PMID:36134775 PMID:36227435 PMID:36292665 PMID:36925663 PMID:36938085 PMID:37086329 PMID:37097554 PMID:37362409 PMID:37849993 PMID:38214412 PMID:38357258 PMID:39202375 PMID:7987301 More...
RGD:1600924
NCBI chr 1:82,564,647...82,699,778
Ensembl chr 1:82,564,642...82,699,780
G
Col4a4
collagen, type IV, alpha 4
ISO
ClinVar Annotator: match by term: Alport syndrome | ClinVar Annotator: match by term: Congenital hereditary hematuria | ClinVar Annotator: match by term: Disease of glomerular basement membrane
ClinVar
PMID:1721625 PMID:3385421 PMID:9536098 PMID:9792860 PMID:11134255 PMID:11685592 PMID:11961012 PMID:12028435 PMID:12325029 PMID:12631110 PMID:14582039 PMID:14871398 PMID:15618242 PMID:15880327 PMID:16199547 PMID:16338941 PMID:16467446 PMID:17216251 PMID:17396119 PMID:17576681 PMID:17942953 PMID:19129241 PMID:19675380 PMID:20029656 PMID:20301386 PMID:21196518 PMID:21897443 PMID:22887978 PMID:23349334 PMID:23967202 PMID:24033266 PMID:24033287 PMID:24046192 PMID:24052634 PMID:24130771 PMID:24472419 PMID:24522496 PMID:24633401 PMID:24854265 PMID:25229338 PMID:25307543 PMID:25381091 PMID:25514610 PMID:25575550 PMID:25596306 PMID:25741868 PMID:25755845 PMID:26346198 PMID:26467025 PMID:26809805 PMID:26934356 PMID:27281700 PMID:27365461 PMID:27859054 PMID:27884173 PMID:28059119 PMID:28117080 PMID:28476686 PMID:28492532 PMID:28542346 PMID:28632965 PMID:28658201 PMID:28704582 PMID:28780565 PMID:28844315 PMID:28968992 PMID:28976722 PMID:29098738 PMID:29204651 PMID:29496980 PMID:29801666 PMID:29854973 PMID:29907799 PMID:29924831 PMID:30076350 PMID:30406062 PMID:30450445 PMID:30506145 PMID:30586318 PMID:30647093 PMID:30745910 PMID:30808327 PMID:30883042 PMID:30968591 PMID:31019026 PMID:31049720 PMID:31246743 PMID:31308072 PMID:31328266 PMID:31387071 PMID:31408864 PMID:31576025 PMID:31589614 PMID:31922066 PMID:32332277 PMID:32604935 PMID:32703181 PMID:32939031 PMID:33048202 PMID:33095447 PMID:33233744 PMID:33532864 PMID:33712733 PMID:33772369 PMID:33838161 PMID:33854215 PMID:34400539 PMID:34448697 PMID:34584596 PMID:34625929 PMID:34746741 PMID:34993602 PMID:35064937 PMID:35090027 PMID:35114279 PMID:35121647 PMID:35368817 PMID:35369551 PMID:35419377 PMID:35478268 PMID:35759000 PMID:36130833 PMID:36161695 PMID:36239278 PMID:36349777 PMID:36370330 PMID:36646731 PMID:36685964 PMID:36699462 PMID:36758113 PMID:36925663 PMID:37086329 PMID:37097554 PMID:37147621 PMID:37895203 PMID:38317457 PMID:38978054 More...
NCBI chr 1:82,426,140...82,564,570
Ensembl chr 1:82,426,144...82,564,570
G
Col4a5
collagen, type IV, alpha 5
ISO
Alport Syndrome, OMIM:301050, DNA:deletion:exons ClinVar Annotator: match by term: Alport syndrome | ClinVar Annotator: match by term: Congenital hereditary hematuria | ClinVar Annotator: match by term: Disease of glomerular basement membrane
ClinVar RGD
PMID:2349482 PMID:7599631 PMID:7695699 PMID:8218237 PMID:8455372 PMID:8648925 PMID:8651292 PMID:8651296 PMID:8940267 PMID:9195222 PMID:9848783 PMID:10094548 PMID:10563487 PMID:10752524 PMID:11223851 PMID:12028435 PMID:12105244 PMID:12796257 PMID:14514738 PMID:15044104 PMID:15780079 PMID:15954103 PMID:17396119 PMID:18083113 PMID:18343956 PMID:19344236 PMID:19728970 PMID:19919694 PMID:19965530 PMID:20301386 PMID:20378821 PMID:21332469 PMID:21505094 PMID:21688191 PMID:23144074 PMID:23572034 PMID:23720012 PMID:24033287 PMID:24046192 PMID:24077912 PMID:24130771 PMID:24304881 PMID:24470729 PMID:24854265 PMID:25525159 PMID:25572247 PMID:25741868 PMID:26063487 PMID:26467025 PMID:26809805 PMID:26934356 PMID:27627812 PMID:28492532 PMID:28542346 PMID:28844315 PMID:28864840 PMID:29127259 PMID:29142990 PMID:29526710 PMID:29854973 PMID:30348286 PMID:30577881 PMID:30586318 PMID:30647093 PMID:30655312 PMID:30661074 PMID:30691124 PMID:30773290 PMID:30968591 PMID:31738409 PMID:31850286 PMID:31922066 PMID:32359821 PMID:32405592 PMID:33040356 PMID:33226606 PMID:33233744 PMID:33309955 PMID:33532864 PMID:33854215 PMID:34008892 PMID:34440452 PMID:35022790 PMID:35643372 PMID:36685964 PMID:37464296 PMID:38680391 PMID:38790222 PMID:2349482 More...
RGD:1600687
NCBI chr X:140,258,367...140,472,232
Ensembl chr X:140,258,381...140,472,230
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H2-Eb1
histocompatibility 2, class II antigen E beta
susceptibility
ISO
DNA:polymorphism: :HLA-DRB1*16 (human)
RGD
PMID:15182324
RGD:7365078
NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648
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Il1b
interleukin 1 beta
IDA
RGD
PMID:22937108
RGD:7175090
NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059
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Mmp12
matrix metallopeptidase 12
IEP
RGD
PMID:16816359
RGD:7241212
NCBI chr 9:7,344,397...7,360,461
Ensembl chr 9:7,344,381...7,369,499
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Mmp3
matrix metallopeptidase 3
IEP
protein:increased expression:kidney
RGD
PMID:16509766
RGD:7241252
NCBI chr 9:7,445,845...7,455,975
Ensembl chr 9:7,445,822...7,455,975
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Myh9
myosin, heavy polypeptide 9, non-muscle
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10973259
NCBI chr15:77,644,788...77,726,315
Ensembl chr15:77,644,787...77,726,375
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Myo15a
myosin XVA
ISO
ClinVar Annotator: match by term: Alport syndrome
ClinVar
PMID:28492532 PMID:30311386
NCBI chr11:60,360,165...60,419,195
Ensembl chr11:60,360,165...60,419,195
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Agt
angiotensinogen
ISO
protein:increased expression:kidney, urine mRNA, protein:increased expression:liver, plasma
RGD
PMID:21282555 PMID:7550093
RGD:5129185 , RGD:11039051
NCBI chr 8:125,283,326...125,296,445
Ensembl chr 8:125,283,273...125,296,445
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Agtr1a
angiotensin II receptor, type 1a
ISO
protein:increased expression:kidney
RGD
PMID:21282555
RGD:5129185
NCBI chr13:30,520,339...30,566,850
Ensembl chr13:30,520,424...30,566,850
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Bax
BCL2-associated X protein
ISO
mRNA, protein:increased expression:kidney
RGD
PMID:12234300
RGD:1579984
NCBI chr 7:45,111,124...45,116,332
Ensembl chr 7:45,111,121...45,116,322
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Bcl2
B cell leukemia/lymphoma 2
ISO
mRNA, protein:decreased expression:kidney
RGD
PMID:12234300
RGD:1579984
NCBI chr 1:106,465,906...106,642,020
Ensembl chr 1:106,465,908...106,642,004
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Ccl17
C-C motif chemokine ligand 17
ISO
mRNA:increased expression:glomerulus
RGD
PMID:20071465
RGD:4145614
NCBI chr 8:95,535,996...95,538,666
Ensembl chr 8:95,537,081...95,538,664
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Ccl2
C-C motif chemokine ligand 2
treatment
ISO
mRNA:increased expression:glomerulus
RGD
PMID:17898087 PMID:20071465 PMID:21894146
RGD:2307059 , RGD:4145614 , RGD:6218988
NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279
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Ccl22
C-C motif chemokine ligand 22
ISO
mRNA, protein:increased expression:glomerulus
RGD
PMID:12651599
RGD:2306306
NCBI chr 8:95,472,312...95,478,016
Ensembl chr 8:95,472,218...95,478,327
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Ccl4
C-C motif chemokine ligand 4
ISO
mRNA:increased expression:glomerulus
RGD
PMID:17898087
RGD:2307059
NCBI chr11:83,553,410...83,555,509
Ensembl chr11:83,553,410...83,555,509
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Ccl5
C-C motif chemokine ligand 5
ISO
mRNA:increased expression:glomerulus
RGD
PMID:17898087
RGD:2307059
NCBI chr11:83,416,604...83,421,344
Ensembl chr11:83,416,604...83,421,344
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Cd274
CD274 antigen
treatment
IMP
RGD
PMID:21965585
RGD:7248671
NCBI chr19:29,339,428...29,365,495
Ensembl chr19:29,344,855...29,365,495
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Cd40
CD40 antigen
IMP
RGD
PMID:15210767
RGD:7248442
NCBI chr 2:164,897,535...164,913,574
Ensembl chr 2:164,897,547...164,914,868
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Cd40lg
CD40 ligand
ISO
RGD
PMID:15458437
RGD:5508170
NCBI chr X:56,257,448...56,269,402
Ensembl chr X:56,257,503...56,269,402
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Cd80
CD80 antigen
ISO
RGD
PMID:10712436
RGD:6902936
NCBI chr16:38,277,793...38,316,682
Ensembl chr16:38,275,923...38,316,697
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Cfb
complement factor B
IMP
RGD
PMID:22492944
RGD:7242700
NCBI chr17:35,075,350...35,081,492
Ensembl chr17:35,075,350...35,081,494
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Clu
clusterin
ISO
protein:increased expression:urine
RGD
PMID:23791361
RGD:9068422
NCBI chr14:66,206,093...66,218,992
Ensembl chr14:66,205,932...66,218,996
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Csf1
colony stimulating factor 1 (macrophage)
treatment
ISO
RGD
PMID:19242505
RGD:7257569
NCBI chr 3:107,648,364...107,668,048
Ensembl chr 3:107,648,364...107,667,785
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Csf1r
colony stimulating factor 1 receptor
treatment ameliorates
ISO
RGD
PMID:19242505 PMID:21519331
RGD:7257569 , RGD:151665824
NCBI chr18:61,238,644...61,264,211
Ensembl chr18:61,233,670...61,265,221
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Ctla4
cytotoxic T-lymphocyte-associated protein 4
treatment
IMP ISO
RGD
PMID:10712436 PMID:8206086 PMID:10712436
RGD:6902936 , RGD:11352257 , RGD:6902936
NCBI chr 1:60,948,184...60,954,991
Ensembl chr 1:60,926,159...60,954,991
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Cx3cl1
C-X3-C motif chemokine ligand 1
ISO
mRNA, protein:increased expression:glomerulus
RGD
PMID:19590241
RGD:4891946
NCBI chr 8:95,498,808...95,509,055
Ensembl chr 8:95,498,637...95,509,055
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Cx3cr1
C-X3-C motif chemokine receptor 1
ISO
mRNA, protein:increased expression:glomerulus
RGD
PMID:19590241
RGD:4891946
NCBI chr 9:119,877,749...119,897,362
Ensembl chr 9:119,877,749...119,898,945
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Cxcl12
C-X-C motif chemokine ligand 12
ISO
mRNA:increased expression:glomerulus
RGD
PMID:17557270
RGD:2306579
NCBI chr 6:117,145,496...117,158,329
Ensembl chr 6:117,145,496...117,158,328
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Dusp1
dual specificity phosphatase 1
ISO
mRNA:increased expression:glomerulus
RGD
PMID:8587253
RGD:633769
NCBI chr17:26,724,565...26,727,446
Ensembl chr17:26,724,564...26,781,102
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Fcgr4
Fc receptor, IgG, low affinity IV
no_association
ISO
DNA:cnv: : DNA:polymorphism:exon:(rs396991)(human)
RGD
PMID:19946017 PMID:19640933
RGD:5508400 , RGD:5508403
NCBI chr 1:170,846,495...170,857,330
Ensembl chr 1:170,846,489...170,857,330
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Gp6
glycoprotein 6 platelet
IMP
RGD
PMID:20651232
RGD:7242710
NCBI chr 7:4,365,852...4,400,849
Ensembl chr 7:4,366,964...4,400,743
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H2-Eb1
histocompatibility 2, class II antigen E beta
susceptibility
ISO
DNA:polymorphism (human)
RGD
PMID:21569485
RGD:5147561
NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648
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Il10
interleukin 10
treatment
ISO
RGD
PMID:23826305
RGD:7365004
NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711
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Il17a
interleukin 17A
treatment
ISO
RGD
PMID:23826305
RGD:7365004
NCBI chr 1:20,801,129...20,804,720
Ensembl chr 1:20,801,129...20,804,720
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Il18
interleukin 18
IMP
RGD
PMID:22046355
RGD:6893447
NCBI chr 9:50,466,000...50,493,141
Ensembl chr 9:50,466,127...50,493,140
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Il1b
interleukin 1 beta
IEP ISO
mRNA:increased expression:kidney (mouse) mRNA, protein:increased expression:kidney
RGD
PMID:22046355 PMID:9198037
RGD:6893447 , RGD:7401232
NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059
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Il1rn
interleukin 1 receptor antagonist
ISO
RGD
PMID:20071465
RGD:4145614
NCBI chr 2:24,226,872...24,241,503
Ensembl chr 2:24,226,865...24,241,506
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Il4
interleukin 4
ISO
RGD
PMID:9350645 PMID:17898087
RGD:2317673 , RGD:2307059
NCBI chr11:53,503,287...53,509,492
Ensembl chr11:53,493,809...53,509,496
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Itga4
integrin alpha 4
treatment
ISO
RGD
PMID:9032136 PMID:7679412
RGD:2308810 , RGD:9698425
NCBI chr 2:79,084,767...79,163,458
Ensembl chr 2:79,085,770...79,163,467
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Mapk14
mitogen-activated protein kinase 14
ISO
RGD
PMID:21894146
RGD:6218988
NCBI chr17:28,910,316...28,967,379
Ensembl chr17:28,910,303...28,967,380
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Mapk8
mitogen-activated protein kinase 8
ISO
RGD
PMID:21894146
RGD:6218988
NCBI chr14:33,099,855...33,169,213
Ensembl chr14:33,099,855...33,169,115
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Mif
macrophage migration inhibitory factor (glycosylation-inhibiting factor)
ISO
RGD
PMID:10780884
RGD:1642011
NCBI chr10:75,695,187...75,696,111
Ensembl chr10:75,695,187...75,696,074
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Mmp12
matrix metallopeptidase 12
ISO
RGD
PMID:21894146
RGD:6218988
NCBI chr 9:7,344,397...7,360,461
Ensembl chr 9:7,344,381...7,369,499
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Mmp14
matrix metallopeptidase 14 (membrane-inserted)
ISO
mRNA:increased expression:kidney, macrophage
RGD
PMID:10878552
RGD:2314954
NCBI chr14:54,669,055...54,679,913
Ensembl chr14:54,669,069...54,682,821
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Nos2
nitric oxide synthase 2, inducible
ISO
RGD
PMID:21894146
RGD:6218988
NCBI chr11:78,811,613...78,851,052
Ensembl chr11:78,811,613...78,851,080
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Nppb
natriuretic peptide type B
IDA
RGD
PMID:11729234
RGD:7248605
NCBI chr 4:148,070,264...148,071,662
Ensembl chr 4:148,070,245...148,071,662
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Pdcd1
programmed cell death 1
treatment
ISO
RGD
PMID:21965585
RGD:7248671
NCBI chr 1:93,966,027...93,980,278
Ensembl chr 1:93,966,027...93,980,278
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Pf4
platelet factor 4
treatment
ISO
RGD
PMID:7573480
RGD:329901920
NCBI chr 5:90,920,362...90,921,242
Ensembl chr 5:90,920,294...90,921,242
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Ppara
peroxisome proliferator activated receptor alpha
IDA
RGD
PMID:17888025
RGD:5563035
NCBI chr15:85,619,112...85,691,052
Ensembl chr15:85,619,184...85,687,020
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Ptk2b
PTK2 protein tyrosine kinase 2 beta
ISO
protein:increased expression:glomerulus
RGD
PMID:11774117
RGD:729912
NCBI chr14:66,390,706...66,518,549
Ensembl chr14:66,390,706...66,518,501
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Rapgef1
Rap guanine nucleotide exchange factor (GEF) 1
ISO
protein:increased expression:renal glomerulus
RGD
PMID:18784646
RGD:11534983
NCBI chr 2:29,509,732...29,630,376
Ensembl chr 2:29,509,732...29,630,990
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Selp
selectin, platelet
ISO
RGD
PMID:21894146
RGD:6218988
NCBI chr 1:163,942,833...163,977,595
Ensembl chr 1:163,942,833...163,977,595
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Slc34a1
solute carrier family 34 (sodium phosphate), member 1
IEP
protein:decreased expression:kidney, brush border membrane (mouse)
RGD
PMID:19193726
RGD:7242947
NCBI chr13:55,547,435...55,562,508
Ensembl chr13:55,546,000...55,563,405
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Slit2
slit guidance ligand 2
ISO
mRNA:decreased expression:kidney, glomerulus
RGD
PMID:15215188
RGD:2316132
NCBI chr 5:48,138,633...48,465,077
Ensembl chr 5:48,140,480...48,465,075
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Spp1
secreted phosphoprotein 1
IEP
RGD
PMID:20504883
RGD:6903276
NCBI chr 5:104,582,977...104,588,919
Ensembl chr 5:104,582,984...104,588,916
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Syk
spleen tyrosine kinase
ISO
RGD
PMID:21894146
RGD:6218988
NCBI chr13:52,736,670...52,802,828
Ensembl chr13:52,737,209...52,802,828
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Tnf
tumor necrosis factor
ISO
RGD
PMID:21894146
RGD:6218988
NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
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Vcam1
vascular cell adhesion molecule 1
IEP
protein:increased expression:urine, serum:
RGD
PMID:23460853
RGD:7241232
NCBI chr 3:115,903,669...115,923,337
Ensembl chr 3:115,903,598...115,923,337
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Xcl1
chemokine (C motif) ligand 1
ISO
mRNA:increased expression:glomerulus
RGD
PMID:9717977
RGD:8693304
NCBI chr 1:164,759,216...164,763,094
Ensembl chr 1:164,759,213...164,763,096
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Col4a3
collagen, type IV, alpha 3
ISO
ClinVar Annotator: match by term: ALPORT SYNDROME 3A, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Alport syndrome 3, autosomal dominant | ClinVar Annotator: match by term: Autosomal dominant Alport syndrome | ClinVar Annotator: match by term: Renal failure and sensorineural hearing loss CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:1400291 PMID:2557550 PMID:6138234 PMID:7780062 PMID:7987301 PMID:7987396 PMID:8956999 PMID:9195222 PMID:9269635 PMID:9536098 PMID:9724608 PMID:11044206 PMID:11134255 PMID:11961012 PMID:12028435 PMID:14582039 PMID:14871398 PMID:15086897 PMID:15618242 PMID:15880327 PMID:15954103 PMID:16199547 PMID:17216251 PMID:17576681 PMID:18436078 PMID:19525337 PMID:20301386 PMID:21157337 PMID:21897443 PMID:22887978 PMID:23325022 PMID:23927549 PMID:23967202 PMID:24033266 PMID:24033287 PMID:24052634 PMID:24130771 PMID:24262798 PMID:24633401 PMID:24854265 PMID:24944784 PMID:25229338 PMID:25307543 PMID:25381091 PMID:25407002 PMID:25450602 PMID:25514610 PMID:25525159 PMID:25575550 PMID:25596306 PMID:25741868 PMID:26138234 PMID:26277931 PMID:26346198 PMID:26411580 PMID:26467025 PMID:26594346 PMID:26633401 PMID:26795916 PMID:26809805 PMID:26920127 PMID:26934356 PMID:26940125 PMID:27281700 PMID:27391953 PMID:27485810 PMID:27627812 PMID:27796712 PMID:27859054 PMID:27904025 PMID:27932480 PMID:28117080 PMID:28476686 PMID:28492532 PMID:28542346 PMID:28570636 PMID:28600779 PMID:28632965 PMID:28658201 PMID:28704582 PMID:28780565 PMID:28844315 PMID:29089023 PMID:29098738 PMID:29127259 PMID:29204651 PMID:29270492 PMID:29271581 PMID:29644057 PMID:29742505 PMID:29801666 PMID:29854973 PMID:29924831 PMID:29946535 PMID:30076350 PMID:30295827 PMID:30311386 PMID:30406062 PMID:30450445 PMID:30476138 PMID:30487145 PMID:30506145 PMID:30586318 PMID:30647093 PMID:30661074 PMID:30773290 PMID:30819905 PMID:30828794 PMID:30881523 PMID:30883042 PMID:31027891 PMID:31130284 PMID:31144478 PMID:31256874 PMID:31306228 PMID:31328266 PMID:31387071 PMID:31477057 PMID:31589614 PMID:31625567 PMID:31738409 PMID:31807928 PMID:31865346 PMID:32359821 PMID:32647767 PMID:32703181 PMID:32723786 PMID:32860008 PMID:32887937 PMID:32939031 PMID:33040356 PMID:33179747 PMID:33226606 PMID:33229591 PMID:33369211 PMID:33391746 PMID:33532864 PMID:33712733 PMID:33772369 PMID:33774048 PMID:33838161 PMID:33851121 PMID:33854215 PMID:34013111 PMID:34113375 PMID:34120753 PMID:34215756 PMID:34400539 PMID:34426522 PMID:34440452 PMID:34589218 PMID:34662886 PMID:34888854 PMID:34906502 PMID:35090027 PMID:35177655 PMID:35301649 PMID:35325889 PMID:35369551 PMID:35372954 PMID:35386907 PMID:35485766 PMID:35675912 PMID:35880347 PMID:36013122 PMID:36100708 PMID:36117978 PMID:36130833 PMID:36134775 PMID:36227435 PMID:36292665 PMID:36925663 PMID:36938085 PMID:37086329 PMID:37097554 PMID:37362409 PMID:37849993 PMID:38214412 PMID:38262496 PMID:39202375 More...
NCBI chr 1:82,564,647...82,699,778
Ensembl chr 1:82,564,642...82,699,780
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Col4a4
collagen, type IV, alpha 4
ISO
ClinVar Annotator: match by term: Alport syndrome 3, autosomal dominant | ClinVar Annotator: match by term: Autosomal dominant Alport syndrome | ClinVar Annotator: match by term: Renal failure and sensorineural hearing loss
ClinVar
PMID:9536098 PMID:9792860 PMID:11375996 PMID:11961012 PMID:12028435 PMID:12631110 PMID:12748344 PMID:15618242 PMID:15954103 PMID:16199547 PMID:16467446 PMID:17216251 PMID:17576681 PMID:17942953 PMID:19129241 PMID:20301386 PMID:21196518 PMID:21897443 PMID:24033266 PMID:24046192 PMID:24052634 PMID:24633401 PMID:24854265 PMID:25307543 PMID:25525159 PMID:25596306 PMID:25741868 PMID:26467025 PMID:26809805 PMID:26934356 PMID:27859054 PMID:28492532 PMID:28632965 PMID:28658201 PMID:28704582 PMID:28844315 PMID:29801666 PMID:29854973 PMID:29924831 PMID:30586318 PMID:30745910 PMID:31312213 PMID:31576025 PMID:31589614 PMID:31934206 PMID:32939031 PMID:33233744 PMID:33369211 PMID:33532864 PMID:33712733 PMID:33772369 PMID:33838161 PMID:33854215 PMID:34746741 PMID:35759000 PMID:36100708 PMID:37097554 PMID:38978054 More...
NCBI chr 1:82,426,140...82,564,570
Ensembl chr 1:82,426,144...82,564,570
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Col4a5
collagen, type IV, alpha 5
ISO
ClinVar Annotator: match by term: Alport syndrome 3, autosomal dominant | ClinVar Annotator: match by term: Autosomal dominant Alport syndrome
ClinVar
PMID:7599631 PMID:7695699 PMID:8218237 PMID:8651296 PMID:8940267 PMID:9195222 PMID:9848783 PMID:10752524 PMID:11223851 PMID:12028435 PMID:14514738 PMID:16199547 PMID:19344236 PMID:19965530 PMID:21505094 PMID:23144074 PMID:23720012 PMID:24046192 PMID:24304881 PMID:24854265 PMID:25741868 PMID:26809805 PMID:27627812 PMID:28492532 PMID:30577881 PMID:30773290 PMID:33369211 More...
NCBI chr X:140,258,367...140,472,232
Ensembl chr X:140,258,381...140,472,230
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Myh9
myosin, heavy polypeptide 9, non-muscle
ISO
DNA:missense mutation:exon:4270G>C,D1424H (human)
RGD
PMID:12500226
RGD:6902925
NCBI chr15:77,644,788...77,726,315
Ensembl chr15:77,644,787...77,726,375
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Cacna1d
calcium channel, voltage-dependent, L type, alpha 1D subunit
ISO
ClinVar Annotator: match by term: Autosomal recessive Alport syndrome
ClinVar
PMID:25741868
NCBI chr14:29,761,898...30,213,113
Ensembl chr14:29,761,896...30,213,412
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Ccr1
C-C motif chemokine receptor 1
IMP
RGD
PMID:15716328
RGD:5688157
NCBI chr 9:123,762,163...123,768,729
Ensembl chr 9:123,762,161...123,768,729
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Col4a3
collagen, type IV, alpha 3
ISO IAGP
ClinVar Annotator: match by term: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Alport syndrome 3b, autosomal recessive | ClinVar Annotator: match by term: Autosomal recessive Alport syndrome OMIM:203780
OMIM ClinVar MouseDO
PMID:1400291 PMID:2557550 PMID:6138234 PMID:7633417 PMID:7780062 PMID:7987301 PMID:7987396 PMID:8956999 PMID:9195222 PMID:9269635 PMID:9536098 PMID:9647515 PMID:9724608 PMID:11044206 PMID:11134255 PMID:11961012 PMID:12028435 PMID:14582039 PMID:14871398 PMID:15618242 PMID:15880327 PMID:15954103 PMID:16199547 PMID:17216251 PMID:17396119 PMID:17576681 PMID:18385178 PMID:18436078 PMID:19525337 PMID:21157337 PMID:21897443 PMID:22887978 PMID:23297803 PMID:23325022 PMID:23927549 PMID:23967202 PMID:24033266 PMID:24033287 PMID:24052634 PMID:24130771 PMID:24262798 PMID:24633401 PMID:24854265 PMID:24944784 PMID:25229338 PMID:25307543 PMID:25381091 PMID:25407002 PMID:25450602 PMID:25514610 PMID:25525159 PMID:25575550 PMID:25596306 PMID:25741868 PMID:25888712 PMID:26138234 PMID:26277931 PMID:26346198 PMID:26467025 PMID:26594346 PMID:26633401 PMID:26795916 PMID:26809805 PMID:26934356 PMID:26940125 PMID:27281700 PMID:27391953 PMID:27485810 PMID:27627812 PMID:27796712 PMID:27859054 PMID:27904025 PMID:27932480 PMID:28117080 PMID:28492532 PMID:28542346 PMID:28570636 PMID:28632965 PMID:28658201 PMID:28780565 PMID:29098738 PMID:29100090 PMID:29127259 PMID:29204651 PMID:29270492 PMID:29271581 PMID:29644057 PMID:29742505 PMID:29801666 PMID:29854973 PMID:29924831 PMID:29946535 PMID:30076350 PMID:30311386 PMID:30406062 PMID:30476138 PMID:30487145 PMID:30586318 PMID:30647093 PMID:30661074 PMID:30773290 PMID:30819905 PMID:30881523 PMID:30883042 PMID:31027891 PMID:31256874 PMID:31306228 PMID:31328266 PMID:31387071 PMID:31477057 PMID:31807928 PMID:31865346 PMID:31925849 PMID:32359821 PMID:32647767 PMID:32703181 PMID:32723786 PMID:32860008 PMID:32887937 PMID:32939031 PMID:33040356 PMID:33226606 PMID:33229591 PMID:33369211 PMID:33391746 PMID:33532864 PMID:33712733 PMID:33772369 PMID:33774048 PMID:33838161 PMID:33851121 PMID:33854215 PMID:33980730 PMID:34013111 PMID:34120753 PMID:34215756 PMID:34400539 PMID:34426522 PMID:34662886 PMID:35090027 PMID:35102923 PMID:35177655 PMID:35301649 PMID:35325889 PMID:35369551 PMID:35372954 PMID:35386907 PMID:35485766 PMID:35497790 PMID:36013122 PMID:36100708 PMID:36117978 PMID:36130833 PMID:36134775 PMID:36227435 PMID:36292665 PMID:36925663 PMID:36938085 PMID:37086329 PMID:37097554 PMID:37362409 PMID:37849993 PMID:38214412 PMID:39202375 More...
NCBI chr 1:82,564,647...82,699,778
Ensembl chr 1:82,564,642...82,699,780
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Col4a4
collagen, type IV, alpha 4
ISO IAGP
ClinVar Annotator: match by term: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Autosomal recessive Alport syndrome ClinVar Annotator: match by term: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Alport syndrome 3b, autosomal recessive | ClinVar Annotator: match by term: Autosomal recessive Alport syndrome CTD Direct Evidence: marker/mechanism OMIM:203780
OMIM ClinVar CTD MouseDO
PMID:2011424 PMID:3385421 PMID:7987396 PMID:8787673 PMID:9195222 PMID:9536098 PMID:9792860 PMID:11375996 PMID:11961012 PMID:11970952 PMID:12028435 PMID:12325029 PMID:12631110 PMID:12748344 PMID:14582039 PMID:15086897 PMID:15299013 PMID:15618242 PMID:15954103 PMID:16199547 PMID:16338941 PMID:16467446 PMID:17216251 PMID:17396119 PMID:17576681 PMID:17942953 PMID:19129241 PMID:19675380 PMID:20029656 PMID:20301386 PMID:21196518 PMID:21897443 PMID:22887978 PMID:23349334 PMID:23551117 PMID:23967202 PMID:24033266 PMID:24033287 PMID:24046192 PMID:24052634 PMID:24398087 PMID:24472419 PMID:24522496 PMID:24633401 PMID:24854265 PMID:25229338 PMID:25307543 PMID:25381091 PMID:25514610 PMID:25525159 PMID:25575550 PMID:25596306 PMID:25741868 PMID:25755845 PMID:26346198 PMID:26467025 PMID:26628290 PMID:26809805 PMID:26833262 PMID:26934356 PMID:27281700 PMID:27469977 PMID:27859054 PMID:28117080 PMID:28476686 PMID:28492532 PMID:28542346 PMID:28632965 PMID:28658201 PMID:28704582 PMID:28780565 PMID:28844315 PMID:28968992 PMID:28976722 PMID:29098738 PMID:29204651 PMID:29496980 PMID:29801666 PMID:29854973 PMID:29873249 PMID:29907799 PMID:29924831 PMID:30076350 PMID:30295827 PMID:30406062 PMID:30443360 PMID:30450445 PMID:30506145 PMID:30586318 PMID:30647093 PMID:30745910 PMID:30883042 PMID:30968591 PMID:31019026 PMID:31049720 PMID:31246743 PMID:31308072 PMID:31312213 PMID:31328266 PMID:31408864 PMID:31576025 PMID:31589614 PMID:31677115 PMID:31686460 PMID:31922066 PMID:31934206 PMID:32332277 PMID:32604935 PMID:32647767 PMID:32703181 PMID:32723786 PMID:32939031 PMID:33040356 PMID:33048202 PMID:33095447 PMID:33159707 PMID:33233744 PMID:33369211 PMID:33532864 PMID:33712733 PMID:33772369 PMID:33838161 PMID:33854215 PMID:34400539 PMID:34584596 PMID:34625929 PMID:34746741 PMID:34762194 PMID:34964757 PMID:34993602 PMID:35064937 PMID:35114279 PMID:35325889 PMID:35369551 PMID:35373060 PMID:35419377 PMID:35478268 PMID:35485766 PMID:35497790 PMID:35759000 PMID:36100708 PMID:36130833 PMID:36239278 PMID:36292665 PMID:36349777 PMID:36370330 PMID:36646731 PMID:36685964 PMID:36699462 PMID:36758113 PMID:36925663 PMID:37086329 PMID:37097554 PMID:37147621 PMID:37441478 PMID:38317457 PMID:38978054 More...
NCBI chr 1:82,426,140...82,564,570
Ensembl chr 1:82,426,144...82,564,570
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Mpv17
MpV17 mitochondrial inner membrane protein
IAGP
OMIM:203780
MouseDO
NCBI chr 5:31,298,007...31,311,595
Ensembl chr 5:31,297,998...31,311,595
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Scn4a
sodium channel, voltage-gated, type IV, alpha
ISO
ClinVar Annotator: match by term: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
ClinVar
PMID:25741868 PMID:26427606 PMID:28492532
NCBI chr11:106,208,374...106,256,385
Ensembl chr11:106,209,418...106,244,114
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Sec61a1
SEC61 translocon subunit alpha 1
ISO
ClinVar Annotator: match by term: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
ClinVar
PMID:27392076 PMID:33185949
NCBI chr 6:88,480,589...88,495,782
Ensembl chr 6:88,480,561...88,495,887
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Trp53
transformation related protein 53
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22071594
NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699
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C1qa
complement component 1, q subcomponent, alpha polypeptide
ISO
ClinVar Annotator: match by term: C1Q deficiency
ClinVar
PMID:7594474 PMID:8840296 PMID:9225968 PMID:9590289 PMID:21654842 PMID:22472776 PMID:25741868 PMID:26563161 PMID:28492532 PMID:29739689 PMID:30008451 More...
NCBI chr 4:136,623,227...136,626,155
Ensembl chr 4:136,623,228...136,626,114
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C1qb
complement component 1, q subcomponent, beta polypeptide
ISO
ClinVar Annotator: match by term: C1Q deficiency
ClinVar
PMID:17513176 PMID:21654842 PMID:25741868 PMID:28492532
NCBI chr 4:136,607,437...136,613,511
Ensembl chr 4:136,607,440...136,613,498
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C1qc
complement component 1, q subcomponent, C chain
ISO
ClinVar Annotator: match by term: C1Q deficiency
ClinVar
PMID:7029321 PMID:7900940 PMID:8630118 PMID:20635792 PMID:21654842 PMID:24157463 PMID:25741868 PMID:28082982 PMID:28492532 PMID:30008451 PMID:31357913 More...
NCBI chr 4:136,617,115...136,620,225
Ensembl chr 4:136,617,115...136,620,376
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C1qa
complement component 1, q subcomponent, alpha polypeptide
ISO
ClinVar Annotator: match by term: C1Q deficiency 1 | ClinVar Annotator: match by term: C1QA-related condition
OMIM ClinVar
PMID:25741868 PMID:28492532
NCBI chr 4:136,623,227...136,626,155
Ensembl chr 4:136,623,228...136,626,114
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C1qb
complement component 1, q subcomponent, beta polypeptide
ISO
ClinVar Annotator: match by term: C1Q deficiency 2 | ClinVar Annotator: match by term: C1QB-related condition
OMIM ClinVar
PMID:2894352 PMID:24160257 PMID:25741868 PMID:28492532
NCBI chr 4:136,607,437...136,613,511
Ensembl chr 4:136,607,440...136,613,498
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C1qc
complement component 1, q subcomponent, C chain
ISO
ClinVar Annotator: match by term: C1Q deficiency 3 | ClinVar Annotator: match by term: C1QC-related condition
OMIM ClinVar
PMID:7029321 PMID:8630118 PMID:24157463 PMID:28492532
NCBI chr 4:136,617,115...136,620,225
Ensembl chr 4:136,617,115...136,620,376
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Cfh
complement component factor h
ISO
ClinVar Annotator: match by term: C3 GLOMERULOPATHY 3 | ClinVar Annotator: match by term: CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
ClinVar
PMID:8072530 PMID:9536098 PMID:11158219 PMID:11170895 PMID:11978762 PMID:12424708 PMID:12697737 PMID:15761120 PMID:15870199 PMID:16299065 PMID:16338962 PMID:16601698 PMID:16619239 PMID:17018561 PMID:17576681 PMID:17599974 PMID:17947292 PMID:18235085 PMID:18252712 PMID:18557729 PMID:19190809 PMID:19259132 PMID:19297022 PMID:19454698 PMID:19633317 PMID:20016463 PMID:20059470 PMID:20203157 PMID:21317894 PMID:21415311 PMID:21909106 PMID:22019782 PMID:22171659 PMID:22223606 PMID:22389686 PMID:22403278 PMID:22410797 PMID:22456601 PMID:23431077 PMID:23685748 PMID:23852337 PMID:24036949 PMID:24036952 PMID:24498017 PMID:25037630 PMID:25087612 PMID:25741868 PMID:25814826 PMID:25880396 PMID:26215151 PMID:26376859 PMID:26501415 PMID:26559391 PMID:26691988 PMID:26826462 PMID:27718086 PMID:28011711 PMID:28492532 PMID:28859202 PMID:28941939 PMID:29410599 PMID:29500241 PMID:29888403 PMID:30560448 PMID:30674459 PMID:31447099 PMID:31575699 PMID:31589614 PMID:33519811 PMID:34169201 PMID:34189567 PMID:34260947 PMID:34508573 PMID:34748552 PMID:35925583 PMID:36246952 PMID:36445700 More...
NCBI chr 1:140,013,593...140,111,149
Ensembl chr 1:140,012,446...140,111,502
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Cx3cl1
C-X3-C motif chemokine ligand 1
ISO
RGD
PMID:12028445
RGD:9491783
NCBI chr 8:95,498,808...95,509,055
Ensembl chr 8:95,498,637...95,509,055
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Cx3cr1
C-X3-C motif chemokine receptor 1
ISO
RGD
PMID:12028445
RGD:9491783
NCBI chr 9:119,877,749...119,897,362
Ensembl chr 9:119,877,749...119,898,945
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Ccl2
C-C motif chemokine ligand 2
ISO
mRNA:increased expression:kidney (rat)
RGD
PMID:10844611 PMID:11135063
RGD:8549481 , RGD:10755562
NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279
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Edn1
endothelin 1
ISO
mRNA:increased expression:renal cortex (rat)
RGD
PMID:9893116
RGD:8662387
NCBI chr13:42,454,952...42,461,466
Ensembl chr13:42,454,952...42,461,466
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Hmox1
heme oxygenase 1
IMP
RGD
PMID:11135063
RGD:10755562
NCBI chr 8:75,820,246...75,827,221
Ensembl chr 8:75,820,249...75,827,217
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mt-Tf
tRNA phenylalanine, mitochondrial
ISO
ClinVar Annotator: match by term: Nephropathy, chronic tubulointerstitial
ClinVar
PMID:25741868
NCBI chr MT:1...68
Ensembl chr MT:1...68
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Nfe2l2
nuclear factor, erythroid derived 2, like 2
ISO
protein:decreased localization:nucleus
RGD
PMID:23512109
RGD:10412728
NCBI chr 2:75,505,860...75,535,007
Ensembl chr 2:75,505,857...75,534,985
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Ccl2
C-C motif chemokine ligand 2
treatment
ISO
RGD
PMID:8903512 PMID:17314328
RGD:8549743 , RGD:8549770
NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279
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Ccl3
C-C motif chemokine ligand 3
ISO
associated with Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis
RGD
PMID:18846416 PMID:17898087
RGD:7241813 , RGD:2307059
NCBI chr11:83,538,669...83,540,204
Ensembl chr11:83,538,670...83,540,181
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Cd40
CD40 antigen
IMP
RGD
PMID:14569091
RGD:7248599
NCBI chr 2:164,897,535...164,913,574
Ensembl chr 2:164,897,547...164,914,868
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Cd40lg
CD40 ligand
treatment
IMP
RGD
PMID:14569091
RGD:7248599
NCBI chr X:56,257,448...56,269,402
Ensembl chr X:56,257,503...56,269,402
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Csf1r
colony stimulating factor 1 receptor
treatment
ISO
RGD
PMID:23408165
RGD:151665815
NCBI chr18:61,238,644...61,264,211
Ensembl chr18:61,233,670...61,265,221
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Fcgr3
Fc receptor, IgG, low affinity III
ISO
DNA:CNV:3'UTR:
RGD
PMID:16482158
RGD:2293335
NCBI chr 1:170,878,738...170,893,477
Ensembl chr 1:170,878,743...170,892,504
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Il1b
interleukin 1 beta
ISO
RGD
PMID:19959716
RGD:7175502
NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059
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Il1rn
interleukin 1 receptor antagonist
treatment
ISO
human protein in a rat model
RGD
PMID:7637259
RGD:8551712
NCBI chr 2:24,226,872...24,241,503
Ensembl chr 2:24,226,865...24,241,506
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Jund
jun D proto-oncogene
ISO
RGD
PMID:18443593
RGD:2293336
NCBI chr 8:71,150,389...71,153,265
Ensembl chr 8:71,151,599...71,153,265
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Mmp12
matrix metallopeptidase 12
ISO
RGD
PMID:20488952 PMID:12626598
RGD:2325762 , RGD:737630
NCBI chr 9:7,344,397...7,360,461
Ensembl chr 9:7,344,381...7,369,499
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Mmp3
matrix metallopeptidase 3
ISO
RGD
PMID:11095647
RGD:7241255
NCBI chr 9:7,445,845...7,455,975
Ensembl chr 9:7,445,822...7,455,975
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Mmp9
matrix metallopeptidase 9
ISO
protein:increased expression:renal cortex (rat)
RGD
PMID:16046515
RGD:2313720
NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770
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Mtor
mechanistic target of rapamycin kinase
ISO
RGD
PMID:21403644
RGD:7245940
NCBI chr 4:148,533,039...148,642,142
Ensembl chr 4:148,533,068...148,642,140
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Stat6
signal transducer and activator of transcription 6
IMP
RGD
PMID:21985369
RGD:7243976
NCBI chr10:127,478,855...127,496,856
Ensembl chr10:127,478,855...127,496,826
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Tlr9
toll-like receptor 9
severity
IMP
RGD
PMID:20847283
RGD:7246899
NCBI chr 9:106,099,797...106,104,075
Ensembl chr 9:106,099,797...106,104,082
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Ace2
angiotensin converting enzyme 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16723697
NCBI chr X:162,922,338...162,971,414
Ensembl chr X:162,922,328...162,971,416
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Acta2
actin alpha 2, smooth muscle, aorta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20493835
NCBI chr19:34,217,736...34,232,985
Ensembl chr19:34,218,490...34,232,990
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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 7:28,592,673...28,661,799
Ensembl chr 7:28,592,673...28,661,765
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Actr3
ARP3 actin-related protein 3
ISO
DNA:missense mutation:cds:p.L111F (rat) protein:increased expression:renal glomerulus (rat)
RGD
PMID:18064521 PMID:27251563
RGD:2292230 , RGD:11575049
NCBI chr 1:125,320,642...125,363,464
Ensembl chr 1:125,320,642...125,363,464
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Agt
angiotensinogen
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19858406 PMID:21357516
RGD:5129175
NCBI chr 8:125,283,326...125,296,445
Ensembl chr 8:125,283,273...125,296,445
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Agtr1a
angiotensin II receptor, type 1a
ISO
protein:increased expression:kidney cortex
RGD
PMID:21357516
RGD:5129175
NCBI chr13:30,520,339...30,566,850
Ensembl chr13:30,520,424...30,566,850
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Agtr2
angiotensin II receptor, type 2
ISO
protein:increased expression:kidney cortex
RGD
PMID:21357516
RGD:5129175
NCBI chr X:21,350,863...21,355,072
Ensembl chr X:21,350,783...21,355,403
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Angpt2
angiopoietin 2
ISO
mRNA, protein:increased expression:glomerulus (rat)
RGD
PMID:16628643
RGD:2314213
NCBI chr 8:18,740,279...18,791,578
Ensembl chr 8:18,740,279...18,791,578
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Anln
anillin, actin binding protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 9:22,243,305...22,302,132
Ensembl chr 9:22,243,308...22,300,484
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Arhgap24
Rho GTPase activating protein 24
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
ClinVar
NCBI chr 5:102,355,043...103,053,743
Ensembl chr 5:102,629,257...103,045,803
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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 chr 1:156,157,985...156,248,743
Ensembl chr 1:156,151,079...156,248,729
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Bdkrb1
bradykinin receptor, beta 1
IMP
RGD
PMID:21412216
RGD:7175321
NCBI chr12:105,570,350...105,571,770
Ensembl chr12:105,569,344...105,571,687
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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 chr17:35,081,578...35,101,076
Ensembl chr17:35,081,580...35,117,241
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C3
complement component 3
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 chr17:57,510,967...57,535,136
Ensembl chr17:57,510,970...57,535,136
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Casp9
caspase 9
treatment
ISO
RGD
PMID:28245472
RGD:13782344
NCBI chr 4:141,520,923...141,543,289
Ensembl chr 4:141,520,923...141,543,287
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Cat
catalase
IMP
RGD
PMID:22443450
RGD:7205647
NCBI chr 2:103,284,249...103,315,498
Ensembl chr 2:103,284,194...103,315,505
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Ccl11
C-C motif chemokine ligand 11
treatment
IDA
RGD
PMID:22427838
RGD:7247740
NCBI chr11:81,948,658...81,953,781
Ensembl chr11:81,948,649...81,953,781
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Ccl3
C-C motif chemokine ligand 3
ISO
RGD
PMID:17684420
RGD:7241818
NCBI chr11:83,538,669...83,540,204
Ensembl chr11:83,538,670...83,540,181
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Ccn2
cellular communication network factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17121042
NCBI chr10:24,471,340...24,474,581
Ensembl chr10:24,471,340...24,474,581
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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 chr17:43,059,857...43,187,593
Ensembl chr17:43,103,842...43,187,556
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Cfb
complement factor B
IMP 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 chr17:35,075,350...35,081,492
Ensembl chr17:35,075,350...35,081,494
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Cfh
complement component 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 1:140,013,593...140,111,149
Ensembl chr 1:140,012,446...140,111,502
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Cfi
complement component factor i
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
ClinVar
PMID:18825487 PMID:25741868 PMID:28492532
NCBI chr 3:129,630,432...129,668,978
Ensembl chr 3:129,629,533...129,668,981
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Cmas
cytidine monophospho-N-acetylneuraminic acid synthetase
IAGP
MouseDO
NCBI chr 6:142,702,468...142,721,440
Ensembl chr 6:142,702,412...142,721,440
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Col4a1
collagen, type IV, alpha 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16191423 PMID:18682491
NCBI chr 8:11,248,423...11,362,889
Ensembl chr 8:11,248,423...11,362,826
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Col4a3
collagen, type IV, alpha 3
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 1:82,564,647...82,699,778
Ensembl chr 1:82,564,642...82,699,780
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Col4a4
collagen, type IV, alpha 4
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 1:82,426,140...82,564,570
Ensembl chr 1:82,426,144...82,564,570
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Col4a5
collagen, type IV, alpha 5
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:140,258,367...140,472,232
Ensembl chr X:140,258,381...140,472,230
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Coq2
coenzyme Q2 4-hydroxybenzoate polyprenyltransferase
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
ClinVar
PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr 5:100,802,589...100,822,154
Ensembl chr 5:100,802,589...100,823,006
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Coq8b
coenzyme Q8B
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
ClinVar
PMID:25741868 PMID:32543055
NCBI chr 7:26,928,112...26,957,374
Ensembl chr 7:26,932,448...26,957,375
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Crb2
crumbs family member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 2:37,666,238...37,689,115
Ensembl chr 2:37,666,261...37,689,115
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Cubn
cubilin
ISO
ClinVar Annotator: match by term: Glomerulosclerosis, focal
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 2:13,281,149...13,496,687
Ensembl chr 2:13,281,149...13,496,624
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Edn1
endothelin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16191423
NCBI chr13:42,454,952...42,461,466
Ensembl chr13:42,454,952...42,461,466
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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 1:14,239,177...14,381,259
Ensembl chr 1:14,239,178...14,380,459
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Fn1
fibronectin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16191423
NCBI chr 1:71,624,632...71,692,439
Ensembl chr 1:71,624,679...71,692,359
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Gnaq
guanine nucleotide binding protein, alpha q polypeptide
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16267159
NCBI chr19:16,110,048...16,365,884
Ensembl chr19:16,110,195...16,364,827
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Havcr1
hepatitis A virus cellular receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19225054
NCBI chr11:46,630,644...46,670,405
Ensembl chr11:46,625,907...46,670,405
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Hr
lysine demethylase and nuclear receptor corepressor
ISO
RGD
PMID:21325752
RGD:150520024
NCBI chr14:70,789,644...70,810,988
Ensembl chr14:70,789,652...70,810,988
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Hspb1
heat shock protein 1
ISO
protein:increased expression:glomerulus, podocyte:
RGD
PMID:21931298
RGD:10402764
NCBI chr 5:135,916,773...135,918,417
Ensembl chr 5:135,916,773...135,918,417
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Il1b
interleukin 1 beta
IDA
RGD
PMID:21412216
RGD:7175321
NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059
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Inf2
inverted formin, FH2 and WH2 domain containing
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 chr12:112,555,121...112,581,991
Ensembl chr12:112,555,218...112,581,991
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Itgb3
integrin beta 3
IGI
RGD
PMID:21804539
RGD:6907385
NCBI chr11:104,498,826...104,561,302
Ensembl chr11:104,498,826...104,561,302
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Itgb4
integrin beta 4
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
ClinVar
PMID:25741868
NCBI chr11:115,865,556...115,899,238
Ensembl chr11:115,865,535...115,899,238
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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 7:30,146,955...30,160,105
Ensembl chr 7:30,146,959...30,157,115
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Lamb2
laminin, 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 9:108,357,080...108,367,729
Ensembl chr 9:108,356,935...108,367,729
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Lipc
lipase, hepatic
ISO
protein:reduced expression:serum (rat)
RGD
PMID:14531811
RGD:2308781
NCBI chr 9:70,705,410...70,859,503
Ensembl chr 9:70,705,410...70,859,508
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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 2:33,450,977...33,531,219
Ensembl chr 2:33,450,977...33,530,620
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LOC107983946
Wt1 promoter region
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
ClinVar
PMID:18559874 PMID:18591546 PMID:19171881 PMID:19221039 PMID:19494353 PMID:19536888 PMID:20368469 PMID:20413658 PMID:20435628 PMID:25110071 PMID:25741868 PMID:25932436 PMID:26725263 PMID:28492532 More...
NCBI chr 2:104,956,361...104,957,127
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Lpl
lipoprotein lipase
ISO
RGD
PMID:14531811
RGD:2308781
NCBI chr 8:69,333,207...69,359,584
Ensembl chr 8:69,333,143...69,360,100
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Med28
mediator complex subunit 28
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
ClinVar
PMID:25741868
NCBI chr 5:45,677,571...45,686,626
Ensembl chr 5:45,677,571...45,686,618
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Mir193a
microRNA 193a
IAGP
MouseDO
NCBI chr11:79,602,795...79,602,860
Ensembl chr11:79,602,795...79,602,860
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Mmp2
matrix metallopeptidase 2
ISO
mRNA, protein:increased expression, increased activity:kidney
RGD
PMID:19357873
RGD:2325738
NCBI chr 8:93,553,920...93,580,049
Ensembl chr 8:93,553,919...93,580,048
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Mmp9
matrix metallopeptidase 9
ISO
mRNA, protein:increased expression, increased activity:kidney
RGD
PMID:19357873
RGD:2325738
NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770
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Mpv17
MpV17 mitochondrial inner membrane protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18818194
NCBI chr 5:31,298,007...31,311,595
Ensembl chr 5:31,297,998...31,311,595
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mt-Ty
tRNA tyrosine, mitochondrial
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis and dilated cardiomyopathy
ClinVar
PMID:14598342 PMID:31965079
NCBI chr MT:5,260...5,326
Ensembl chr MT:5,260...5,326
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Myh10
myosin, heavy polypeptide 10, non-muscle
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9678433
NCBI chr11:68,581,228...68,707,451
Ensembl chr11:68,582,385...68,707,458
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Myh9
myosin, heavy polypeptide 9, non-muscle
IMP 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 chr15:77,644,788...77,726,315
Ensembl chr15:77,644,787...77,726,375
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Myo1e
myosin IE
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 9:70,114,632...70,307,349
Ensembl chr 9:70,114,632...70,307,048
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Myo9a
myosin IXa
IAGP ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal
MouseDO ClinVar
PMID:25741868 PMID:33412162
NCBI chr 9:59,658,128...59,836,149
Ensembl chr 9:59,658,179...59,836,149
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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 chr11:59,432,395...59,457,781
Ensembl chr11:59,432,394...59,457,782
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Noc3l
NOC3 like DNA replication regulator
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
ClinVar
PMID:25741868
NCBI chr19:38,776,565...38,808,754
Ensembl chr19:38,776,572...38,807,681
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Nos2
nitric oxide synthase 2, inducible
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16191423
NCBI chr11:78,811,613...78,851,052
Ensembl chr11:78,811,613...78,851,080
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Nphp1
nephronophthisis 1 (juvenile) homolog (human)
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 2:127,582,652...127,630,833
Ensembl chr 2:127,582,652...127,630,817
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Nphp3
nephronophthisis 3 (adolescent)
ISO
ClinVar Annotator: match by term: Glomerulosclerosis, focal
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 9:103,879,743...103,921,010
Ensembl chr 9:103,879,743...103,921,017
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Nphp4
nephronophthisis 4 (juvenile) homolog (human)
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 4:152,561,163...152,647,641
Ensembl chr 4:152,561,163...152,647,640
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Nphs1
nephrosis 1, 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 7:30,157,259...30,188,048
Ensembl chr 7:30,157,740...30,186,648
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Nphs2
nephrosis 2, 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 chr 1:156,138,105...156,155,605
Ensembl chr 1:156,138,297...156,155,605
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Nup93
nucleoporin 93
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
ClinVar
PMID:32581362
NCBI chr 8:94,941,203...95,043,858
Ensembl chr 8:94,941,192...95,043,855
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Nxf2
nuclear RNA export factor 2
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
ClinVar
PMID:23686279
NCBI chr X:133,845,275...133,865,503
Ensembl chr X:133,845,275...133,865,503
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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 chr19:44,735,040...44,826,708
Ensembl chr19:44,735,057...44,826,310
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Pcna
proliferating cell nuclear antigen
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17121042
NCBI chr 2:132,091,206...132,095,100
Ensembl chr 2:132,091,082...132,095,234
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Pdss2
prenyl (solanesyl) diphosphate synthase, subunit 2
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
ClinVar
PMID:25741868 PMID:28492532
NCBI chr10:43,095,396...43,340,878
Ensembl chr10:43,097,482...43,340,878
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Pias1
protein inhibitor of activated STAT 1
ISO
RGD
PMID:19350281
RGD:8693412
NCBI chr 9:62,785,648...62,888,161
Ensembl chr 9:62,785,650...62,895,206
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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 chr19:38,469,438...38,773,549
Ensembl chr19:38,469,557...38,773,474
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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: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 chr16:8,455,467...8,475,472
Ensembl chr16:8,455,538...8,480,331
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Ppp3ca
protein phosphatase 3, catalytic subunit, alpha isoform
ISO
RGD
PMID:26436650
RGD:13515117
NCBI chr 3:136,375,778...136,643,488
Ensembl chr 3:136,375,885...136,643,488
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Ppp3cb
protein phosphatase 3, catalytic subunit, beta isoform
ISO
RGD
PMID:26436650
RGD:13515117
NCBI chr14:20,549,432...20,596,641
Ensembl chr14:20,549,432...20,596,641
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Rap1gap
Rap1 GTPase-activating protein
ISO
mRNA:increased expression:renal glomerulus (human)
RGD
PMID:24642466
RGD:9835343
NCBI chr 4:137,391,549...137,457,172
Ensembl chr 4:137,392,037...137,457,172
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Reg1
regenerating islet-derived 1
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
ClinVar
PMID:25741868
NCBI chr 6:78,402,966...78,405,651
Ensembl chr 6:78,399,694...78,405,650
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Ren2
renin 2 tandem duplication of Ren1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:27428043
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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 chr 8:91,943,658...92,039,919
Ensembl chr 8:91,943,658...92,039,890
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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 5:92,589,170...92,653,516
Ensembl chr 5:92,589,173...92,654,692
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Sdccag8
serologically defined colon cancer antigen 8
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal
ClinVar
PMID:25741868
NCBI chr 1:176,642,226...176,848,004
Ensembl chr 1:176,642,226...176,848,003
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Serpine1
serine (or cysteine) peptidase inhibitor, clade E, member 1
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:18682491 PMID:22303720
RGD:13208548
NCBI chr 5:137,090,358...137,101,126
Ensembl chr 5:137,090,358...137,101,122
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Shh
sonic hedgehog
ISO
RGD
PMID:24744439
RGD:12859042
NCBI chr 5:28,661,838...28,672,099
Ensembl chr 5:28,661,813...28,672,254
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Slc17a5
solute carrier family 17 (anion/sugar transporter), member 5
ISO
ClinVar Annotator: match by term: Glomerulosclerosis, focal
ClinVar
PMID:25741868 PMID:28492532 PMID:29140481
NCBI chr 9:78,443,769...78,495,346
Ensembl chr 9:78,443,770...78,495,323
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Smarcal1
SNF2 related chromatin remodeling ATPase 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 PMID:30784191 More...
NCBI chr 1:72,575,593...72,675,949
Ensembl chr 1:72,622,410...72,672,293
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Spp1
secreted phosphoprotein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9294829
NCBI chr 5:104,582,977...104,588,919
Ensembl chr 5:104,582,984...104,588,916
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Srgap1
SLIT-ROBO Rho GTPase activating protein 1
IAGP
MouseDO
NCBI chr10:121,616,896...121,883,740
Ensembl chr10:121,616,896...121,883,220
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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 7:25,386,406...25,404,503
Ensembl chr 7:25,386,427...25,404,502
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Tmem63c
transmembrane protein 63c
ISO
protein:decreased expression:kidney,renal glomerulus (human)
RGD
PMID:30900988
RGD:15023481
NCBI chr12:87,068,114...87,138,598
Ensembl chr12:87,068,114...87,136,817
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Tnf
tumor necrosis factor
IEP
protein:increased expression:serum
RGD
PMID:21221075
RGD:7245511
NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
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Tnfaip2
tumor necrosis factor, alpha-induced protein 2
IAGP
MouseDO
NCBI chr12:111,408,898...111,421,452
Ensembl chr12:111,408,903...111,421,452
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Tnfrsf1a
tumor necrosis factor receptor superfamily, member 1a
IEP
protein:increased expression:serum
RGD
PMID:21221075
RGD:7245511
NCBI chr 6:125,326,686...125,339,446
Ensembl chr 6:125,326,325...125,339,447
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Tnfrsf1b
tumor necrosis factor receptor superfamily, member 1b
IEP
protein:increased expression:serum
RGD
PMID:21221075
RGD:7245511
NCBI chr 4:144,938,938...144,973,453
Ensembl chr 4:144,940,033...144,973,440
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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 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 9:8,543,868...8,680,753
Ensembl chr 9:8,544,143...8,680,742
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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 chr19:27,190,070...27,231,631
Ensembl chr19:27,193,884...27,231,631
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Vwf
Von Willebrand factor
ISO
RGD
PMID:22295953
RGD:7207031
NCBI chr 6:125,529,911...125,663,642
Ensembl chr 6:125,523,737...125,663,642
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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 PMID:34727091 PMID:38219185 More...
NCBI chr 2:104,956,874...105,003,959
Ensembl chr 2:104,956,874...105,003,961
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Zmpste24
zinc metallopeptidase, STE24
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17152860
NCBI chr 4:120,916,434...120,955,452
Ensembl chr 4:120,916,434...120,955,438
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Ace
angiotensin I converting enzyme
treatment
ISO
RGD
PMID:8505110
RGD:12880006
NCBI chr11:105,858,774...105,880,790
Ensembl chr11:105,858,771...105,880,790
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Actn4
actinin alpha 4
ISO IAGP
ClinVar Annotator: match by term: ACTN4-related condition | ClinVar Annotator: match by term: Focal sclerosis with hyalinosis | ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 1 OMIM:603278
OMIM ClinVar MouseDO
PMID:9536098 PMID:10700177 PMID:16251236 PMID:17576681 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 7:28,592,673...28,661,799
Ensembl chr 7:28,592,673...28,661,765
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Arhgap24
Rho GTPase activating protein 24
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 1
ClinVar
NCBI chr 5:102,355,043...103,053,743
Ensembl chr 5:102,629,257...103,045,803
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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 chr 1:156,157,985...156,248,743
Ensembl chr 1:156,151,079...156,248,729
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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 chr17:35,081,578...35,101,076
Ensembl chr17:35,081,580...35,117,241
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C3
complement component 3
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 chr17:57,510,967...57,535,136
Ensembl chr17:57,510,970...57,535,136
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Cd2ap
CD2-associated protein
ISO
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis
ClinVar
PMID:25741868
NCBI chr17:43,059,857...43,187,593
Ensembl chr17:43,103,842...43,187,556
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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 chr17:35,075,350...35,081,492
Ensembl chr17:35,075,350...35,081,494
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Cfi
complement component factor i
ISO
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis
ClinVar
PMID:18825487 PMID:25741868 PMID:28492532
NCBI chr 3:129,630,432...129,668,978
Ensembl chr 3:129,629,533...129,668,981
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Col4a4
collagen, type IV, alpha 4
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 1:82,426,140...82,564,570
Ensembl chr 1:82,426,144...82,564,570
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Cubn
cubilin
ISO
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 2:13,281,149...13,496,687
Ensembl chr 2:13,281,149...13,496,624
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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 1:14,239,177...14,381,259
Ensembl chr 1:14,239,178...14,380,459
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Inf2
inverted formin, FH2 and WH2 domain containing
ISO
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis
ClinVar
PMID:25741868 PMID:28492532
NCBI chr12:112,555,121...112,581,991
Ensembl chr12:112,555,218...112,581,991
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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 7:30,146,955...30,160,105
Ensembl chr 7:30,146,959...30,157,115
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Lamb2
laminin, beta 2
ISO
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis
ClinVar
PMID:20556798 PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr 9:108,357,080...108,367,729
Ensembl chr 9:108,356,935...108,367,729
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Myh9
myosin, heavy polypeptide 9, non-muscle
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 chr15:77,644,788...77,726,315
Ensembl chr15:77,644,787...77,726,375
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Myo9a
myosin IXa
ISO
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis
ClinVar
PMID:25741868 PMID:33412162
NCBI chr 9:59,658,128...59,836,149
Ensembl chr 9:59,658,179...59,836,149
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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 chr11:59,432,395...59,457,781
Ensembl chr11:59,432,394...59,457,782
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Nphp3
nephronophthisis 3 (adolescent)
ISO
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 9:103,879,743...103,921,010
Ensembl chr 9:103,879,743...103,921,017
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Nphs2
nephrosis 2, 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 chr 1:156,138,105...156,155,605
Ensembl chr 1:156,138,297...156,155,605
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Nup107
nucleoporin 107
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 1
ClinVar
NCBI chr10:117,586,526...117,628,607
Ensembl chr10:117,586,526...117,628,610
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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 chr19:44,735,040...44,826,708
Ensembl chr19:44,735,057...44,826,310
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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 chr19:38,469,438...38,773,549
Ensembl chr19:38,469,557...38,773,474
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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: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 chr16:8,455,467...8,475,472
Ensembl chr16:8,455,538...8,480,331
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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 chr 8:91,943,658...92,039,919
Ensembl chr 8:91,943,658...92,039,890
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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 5:92,589,170...92,653,516
Ensembl chr 5:92,589,173...92,654,692
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Sdccag8
serologically defined colon cancer antigen 8
ISO
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis
ClinVar
PMID:25741868
NCBI chr 1:176,642,226...176,848,004
Ensembl chr 1:176,642,226...176,848,003
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Slc17a5
solute carrier family 17 (anion/sugar transporter), member 5
ISO
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis
ClinVar
PMID:25741868 PMID:28492532 PMID:29140481
NCBI chr 9:78,443,769...78,495,346
Ensembl chr 9:78,443,770...78,495,323
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Smarcal1
SNF2 related chromatin remodeling ATPase 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 PMID:30784191 More...
NCBI chr 1:72,575,593...72,675,949
Ensembl chr 1:72,622,410...72,672,293
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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 9:8,543,868...8,680,753
Ensembl chr 9:8,544,143...8,680,742
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Trpc6
transient receptor potential cation channel, subfamily C, member 6
ISO IAGP
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:16199547 PMID:16932363 PMID:19129465 PMID:19380626 PMID:19936226 PMID:21734084 PMID:22732337 PMID:22980509 PMID:23171048 PMID:23291369 PMID:23645677 PMID:23663351 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:31936014 PMID:31937884 PMID:32509715 PMID:33532864 PMID:33884742 PMID:35051376 PMID:35064937 PMID:35749414 PMID:35913909 More...
NCBI chr 9:8,543,868...8,680,753
Ensembl chr 9:8,544,143...8,680,742
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Cd2ap
CD2-associated protein
ISO IAGP
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:9536098 PMID:10514378 PMID:12764198 PMID:17576681 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 chr17:43,059,857...43,187,593
Ensembl chr17:43,103,842...43,187,556
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Adss1
adenylosuccinate synthase 1
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5
ClinVar
PMID:28492532
NCBI chr12:112,586,481...112,607,789
Ensembl chr12:112,586,479...112,607,794
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Ahnak2
AHNAK nucleoprotein 2
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5
ClinVar
PMID:28492532
NCBI chr12:112,738,631...112,766,278
Ensembl chr12:112,738,628...112,766,277
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Akt1
thymoma viral proto-oncogene 1
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5
ClinVar
PMID:28492532
NCBI chr12:112,620,260...112,641,266
Ensembl chr12:112,620,255...112,641,318
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Brf1
BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5
ClinVar
PMID:28492532
NCBI chr12:112,919,251...112,964,327
Ensembl chr12:112,923,705...112,964,324
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Btbd6
BTB domain containing 6
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5
ClinVar
PMID:28492532
NCBI chr12:112,937,880...112,943,113
Ensembl chr12:112,940,102...112,942,565
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Cdca4
cell division cycle associated 4
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5
ClinVar
PMID:28492532
NCBI chr12:112,783,849...112,793,141
Ensembl chr12:112,783,849...112,793,043
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Cep170b
centrosomal protein 170B
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5
ClinVar
PMID:28492532
NCBI chr12:112,687,950...112,713,026
Ensembl chr12:112,686,889...112,713,026
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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 chr12:112,772,595...112,779,865
Ensembl chr12:112,772,557...112,779,872
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Gpr132
G protein-coupled receptor 132
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5
ClinVar
PMID:28492532
NCBI chr12:112,814,493...112,832,035
Ensembl chr12:112,814,493...112,831,848
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Inf2
inverted formin, FH2 and WH2 domain containing
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:23521651 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 PMID:39536114 More...
NCBI chr12:112,555,121...112,581,991
Ensembl chr12:112,555,218...112,581,991
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Jag2
jagged 2
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5
ClinVar
PMID:28492532
NCBI chr12:112,871,439...112,893,437
Ensembl chr12:112,871,439...112,893,396
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Nudt14
nudix hydrolase 14
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5
ClinVar
PMID:28492532
NCBI chr12:112,897,911...112,905,762
Ensembl chr12:112,897,911...112,905,744
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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 chr12:112,977,998...113,038,021
Ensembl chr12:112,978,128...113,038,021
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Pld4
phospholipase D family member 4
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5
ClinVar
PMID:28492532
NCBI chr12:112,727,089...112,735,420
Ensembl chr12:112,727,089...112,735,424
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Siva1
SIVA1, apoptosis-inducing factor
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5
ClinVar
PMID:28492532
NCBI chr12:112,611,262...112,615,586
Ensembl chr12:112,611,113...112,615,583
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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 chr12:112,645,042...112,649,181
Ensembl chr12:112,645,262...112,649,181
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Ldhal6b
lactate dehydrogenase A-like 6B
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 6
ClinVar
PMID:25741868
NCBI chr17:5,467,598...5,469,042
Ensembl chr17:5,467,598...5,469,042
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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 9:70,114,632...70,307,349
Ensembl chr 9:70,114,632...70,307,048
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Pax2
paired box 2
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 7
OMIM ClinVar
PMID:3077329 PMID:3377002 PMID:8589702 PMID:9106533 PMID:10466411 PMID:10533062 PMID:11093271 PMID:11241473 PMID:11461952 PMID:16199547 PMID:20301624 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 chr19:44,735,040...44,826,708
Ensembl chr19:44,735,057...44,826,310
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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 PMID:30076350 More...
NCBI chr 9:22,243,305...22,302,132
Ensembl chr 9:22,243,308...22,300,484
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Synpo
synaptopodin
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 8
ClinVar
PMID:25741868 PMID:33615071
NCBI chr18:60,727,053...60,793,241
Ensembl chr18:60,727,045...60,793,214
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Crb2
crumbs family member 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 2:37,666,238...37,689,115
Ensembl chr 2:37,666,261...37,689,115
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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 chr19:46,490,087...46,504,894
Ensembl chr19:46,490,141...46,505,287
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Ace
angiotensin I converting enzyme
ISO
RGD
PMID:19164508
RGD:2325229
NCBI chr11:105,858,774...105,880,790
Ensembl chr11:105,858,771...105,880,790
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Adm
adrenomedullin
ISO
CTD Direct Evidence: marker/mechanism associated with Anti-Glomerular Basement Membrane Disease
CTD RGD
PMID:15063164 PMID:15680492 PMID:20431304 PMID:16735801
RGD:2325320 , RGD:1625317
NCBI chr 7:110,226,864...110,229,027
Ensembl chr 7:110,226,868...110,229,027
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Agt
angiotensinogen
disease_progression
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:11459117 PMID:15888567
RGD:13432360
NCBI chr 8:125,283,326...125,296,445
Ensembl chr 8:125,283,273...125,296,445
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Agtr2
angiotensin II receptor, type 2
ISO
RGD
PMID:19139720
RGD:6903845
NCBI chr X:21,350,863...21,355,072
Ensembl chr X:21,350,783...21,355,403
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Aif1
allograft inflammatory factor 1
ISO
protein:increased expression:kidney (rat)
RGD
PMID:17035944
RGD:2313038
NCBI chr17:35,389,967...35,394,977
Ensembl chr17:35,389,967...35,395,044
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Alb
albumin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:3160244 PMID:6343549 PMID:6769622 PMID:8501856 PMID:17161813 PMID:17464766 PMID:18462998 PMID:19524415 More...
NCBI chr 5:90,608,729...90,624,461
Ensembl chr 5:90,608,756...90,624,461
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Alox15
arachidonate 15-lipoxygenase
ISO
RGD
PMID:7967345
RGD:5128564
NCBI chr11:70,234,973...70,279,465
Ensembl chr11:70,234,978...70,242,857
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Alox5ap
arachidonate 5-lipoxygenase activating protein
onset
ISO
protein:increased expression:glomerulus, endothelial cell, cytoplasm (rat)
RGD
PMID:14733414
RGD:2313931
NCBI chr 5:149,201,814...149,224,963
Ensembl chr 5:149,201,577...149,224,963
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Anxa5
annexin A5
ISO
RGD
PMID:11271515
RGD:7241853
NCBI chr 3:36,503,072...36,530,036
Ensembl chr 3:36,503,072...36,530,043
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Apoe
apolipoprotein E
IMP
Apoe(-/-) Id3(-/-) double knockout
RGD
PMID:21801865
RGD:6903286
NCBI chr 7:19,430,169...19,434,326
Ensembl chr 7:19,430,034...19,433,113
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Axl
AXL receptor tyrosine kinase
ISO
RGD
PMID:11290560
RGD:1579882
NCBI chr 7:25,455,925...25,488,502
Ensembl chr 7:25,456,698...25,488,130
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Bcl2l11
BCL2 like 11
IMP
RGD
PMID:10576740
RGD:734641
NCBI chr 2:127,967,958...128,004,467
Ensembl chr 2:127,967,958...128,004,467
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Bdkrb1
bradykinin receptor, beta 1
IMP
RGD
PMID:20448019
RGD:7241551
NCBI chr12:105,570,350...105,571,770
Ensembl chr12:105,569,344...105,571,687
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C1qa
complement component 1, q subcomponent, alpha polypeptide
susceptibility
ISO
DNA:nonsense mutation (human)
RGD
PMID:8840296
RGD:1600549
NCBI chr 4:136,623,227...136,626,155
Ensembl chr 4:136,623,228...136,626,114
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C3
complement component 3
ISO
RGD
PMID:11950907
RGD:5129550
NCBI chr17:57,510,967...57,535,136
Ensembl chr17:57,510,970...57,535,136
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C6
complement component 6
ISO
RGD
PMID:10807586
RGD:1600489
NCBI chr15:4,756,550...4,833,527
Ensembl chr15:4,756,657...4,844,449
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Ccl1
C-C motif chemokine ligand 1
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:10385480 PMID:11157384
RGD:8693624
NCBI chr11:82,067,492...82,070,638
Ensembl chr11:82,067,483...82,196,516
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Ccl2
C-C motif chemokine ligand 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10385480
NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279
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Ccl3
C-C motif chemokine ligand 3
IEP ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:10385480 PMID:18941245
RGD:7241804
NCBI chr11:83,538,669...83,540,204
Ensembl chr11:83,538,670...83,540,181
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Ccl4
C-C motif chemokine ligand 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10385480
NCBI chr11:83,553,410...83,555,509
Ensembl chr11:83,553,410...83,555,509
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Ccl5
C-C motif chemokine ligand 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10385480
NCBI chr11:83,416,604...83,421,344
Ensembl chr11:83,416,604...83,421,344
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Ccl7
C-C motif chemokine ligand 7
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:10385480 PMID:11157384
RGD:8693624
NCBI chr11:81,936,538...81,938,351
Ensembl chr11:81,936,538...81,938,351
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Cd163
CD163 antigen
ISO
associated with liver disease;protein:increased expression:blood serum (human)
RGD
PMID:26339412
RGD:11251207
NCBI chr 6:124,281,596...124,307,488
Ensembl chr 6:124,281,615...124,307,486
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Cd59a
CD59a antigen
resistance
ISO
RGD
PMID:7523753
RGD:1600500
NCBI chr 2:103,926,177...103,945,755
Ensembl chr 2:103,926,146...103,945,699
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Cd59b
CD59b antigen
ISO
RGD
PMID:7523753
RGD:1600500
NCBI chr 2:103,900,127...103,920,619
Ensembl chr 2:103,896,142...103,921,534
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Cfd
complement factor D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14675043
NCBI chr10:79,726,687...79,728,489
Ensembl chr10:79,726,687...79,728,489
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Cfh
complement component factor h
IMP
RGD
PMID:17344423
RGD:7365002
NCBI chr 1:140,013,593...140,111,149
Ensembl chr 1:140,012,446...140,111,502
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Cfi
complement component factor i
IAGP
MouseDO
NCBI chr 3:129,630,432...129,668,978
Ensembl chr 3:129,629,533...129,668,981
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Cndp1
carnosine dipeptidase 1
ISO
RGD
PMID:20851293
RGD:7207223
NCBI chr18:84,628,509...84,668,359
Ensembl chr18:84,628,634...84,668,220
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Col4a3
collagen, type IV, alpha 3
ISO
RGD
PMID:11158397
RGD:1600928
NCBI chr 1:82,564,647...82,699,778
Ensembl chr 1:82,564,642...82,699,780
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Col4a4
collagen, type IV, alpha 4
ISO
ClinVar Annotator: match by term: Glomerulonephritis
ClinVar
PMID:12028435 PMID:12325029 PMID:16467446 PMID:17216251 PMID:17942953 PMID:20301386 PMID:21196518 PMID:24046192 PMID:24052634 PMID:24854265 PMID:25307543 PMID:25741868 PMID:28492532 PMID:28704582 PMID:30506145 PMID:32939031 PMID:36239278 More...
NCBI chr 1:82,426,140...82,564,570
Ensembl chr 1:82,426,144...82,564,570
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Cpb2
carboxypeptidase B2
IMP
RGD
PMID:18612543
RGD:7243117
NCBI chr14:75,479,727...75,520,995
Ensembl chr14:75,479,727...75,520,995
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Csf1
colony stimulating factor 1 (macrophage)
ISO
RGD
PMID:11477167
RGD:7257579
NCBI chr 3:107,648,364...107,668,048
Ensembl chr 3:107,648,364...107,667,785
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Cx3cl1
C-X3-C motif chemokine ligand 1
ISO
mRNA, protein:increased expression:glomerulus, urine
RGD
PMID:14605272
RGD:4891995
NCBI chr 8:95,498,808...95,509,055
Ensembl chr 8:95,498,637...95,509,055
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Cx3cr1
C-X3-C motif chemokine receptor 1
ISO
mRNA:increased expression:glomerulus
RGD
PMID:14605272 PMID:10432400
RGD:4891995 , RGD:4892027
NCBI chr 9:119,877,749...119,897,362
Ensembl chr 9:119,877,749...119,898,945
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Cxcl15
C-X-C motif chemokine ligand 15
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9403216 PMID:10910440
NCBI chr 5:90,942,393...90,950,926
Ensembl chr 5:90,942,393...90,950,926
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Cxcr3
C-X-C motif chemokine receptor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12517959
NCBI chr X:100,775,141...100,777,753
Ensembl chr X:100,775,141...100,777,875
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Des
desmin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20962747
NCBI chr 1:75,336,936...75,345,223
Ensembl chr 1:75,336,973...75,345,223
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Elane
elastase, neutrophil expressed
IMP
RGD
PMID:19752320
RGD:6907051
NCBI chr10:79,722,146...79,724,050
Ensembl chr10:79,722,081...79,724,049
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Ep300
E1A binding protein p300
ISO
protein:increased expression:glomerulus, renal tubule (human)
RGD
PMID:17125594
RGD:7327154
NCBI chr15:81,470,329...81,536,273
Ensembl chr15:81,469,552...81,536,278
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Esr1
estrogen receptor 1 (alpha)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20962747
NCBI chr10:4,561,989...4,955,633
Ensembl chr10:4,561,593...4,955,614
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F2
coagulation factor II
ISO
protein:increased expression;urine
RGD
PMID:17519558 PMID:15164604
RGD:6893586 , RGD:6893593
NCBI chr 2:91,442,742...91,466,799
Ensembl chr 2:91,455,665...91,466,759
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Fas
Fas cell surface death receptor
treatment
IMP ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:21880982 PMID:36999444 PMID:9466307
RGD:8686428
NCBI chr19:34,267,926...34,305,175
Ensembl chr19:34,268,066...34,305,172
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Fbn1
fibrillin 1
ISO
mRNA:increased expression:renal cortex, renal glomerulus (rat) mRNA, protein:increased expression:renal glomerulus (rat)
RGD
PMID:16395273 PMID:16282705
RGD:7365077 , RGD:7387262
NCBI chr 2:125,142,514...125,348,417
Ensembl chr 2:125,142,514...125,349,913
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Fcgr2b
Fc receptor, IgG, low affinity IIb
ISO
RGD
PMID:19640933
RGD:5508403
NCBI chr 1:170,786,186...170,804,141
Ensembl chr 1:170,786,186...170,804,116
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Fcgr3
Fc receptor, IgG, low affinity III
IMP
RGD
PMID:19050295
RGD:5508439
NCBI chr 1:170,878,738...170,893,477
Ensembl chr 1:170,878,743...170,892,504
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Fcgr4
Fc receptor, IgG, low affinity IV
IMP
RGD
PMID:19050295
RGD:5508439
NCBI chr 1:170,846,495...170,857,330
Ensembl chr 1:170,846,489...170,857,330
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Fn1
fibronectin 1
disease_progression
ISO
RGD
PMID:20484935
RGD:7206839
NCBI chr 1:71,624,632...71,692,439
Ensembl chr 1:71,624,679...71,692,359
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Fos
FBJ osteosarcoma oncogene
treatment
ISO
RGD
PMID:11880336 PMID:31821871
RGD:7242278 , RGD:405650596
NCBI chr12:85,520,664...85,524,048
Ensembl chr12:85,520,664...85,524,047
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Gas6
growth arrest specific 6
ISO
RGD
PMID:11290560
RGD:1579882
NCBI chr 8:13,515,374...13,544,535
Ensembl chr 8:13,515,374...13,544,490
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Gdnf
glial cell line derived neurotrophic factor
treatment
ISO
RGD
PMID:22105543
RGD:405866361
NCBI chr15:7,839,529...7,867,061
Ensembl chr15:7,840,327...7,867,056
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Gja5
gap junction protein, alpha 5
ISO
RGD
PMID:22945766
RGD:7207390
NCBI chr 3:96,939,718...96,960,950
Ensembl chr 3:96,812,009...96,984,732
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Ifng
interferon gamma
IDA ISO
CTD Direct Evidence: marker/mechanism associated with kidney transplantation;mRNA:increased expression:kidney
CTD RGD
PMID:1825860 PMID:22495297 PMID:21546865
RGD:6893377 , RGD:6893462
NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797
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Il10
interleukin 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10910440
NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711
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Il18
interleukin 18
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:18462998
NCBI chr 9:50,466,000...50,493,141
Ensembl chr 9:50,466,127...50,493,140
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Il1a
interleukin 1 alpha
IEP
associated with Malaria
RGD
PMID:10469263
RGD:6907108
NCBI chr 2:129,141,530...129,151,892
Ensembl chr 2:129,141,530...129,151,892
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Il1b
interleukin 1 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9403216 PMID:10910440
NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059
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Il1r1
interleukin 1 receptor, type I
IMP
RGD
PMID:17500042
RGD:7207036
NCBI chr 1:40,261,651...40,355,361
Ensembl chr 1:40,264,240...40,356,417
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Il1rn
interleukin 1 receptor antagonist
ISO IEP
mouse model treated with human protein mRNA:increased expression:kidney (mouse)
RGD
PMID:22241891 PMID:21304992
RGD:6906885 , RGD:6906960
NCBI chr 2:24,226,872...24,241,503
Ensembl chr 2:24,226,865...24,241,506
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Il2
interleukin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9403216 PMID:10910440
NCBI chr 3:37,174,862...37,180,103
Ensembl chr 3:37,174,672...37,180,108
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Il2ra
interleukin 2 receptor, alpha chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10910440
NCBI chr 2:11,647,603...11,698,005
Ensembl chr 2:11,647,618...11,698,004
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Il6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9403216
NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979
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Inf2
inverted formin, FH2 and WH2 domain containing
ISO
ClinVar Annotator: match by term: Glomerulonephritis
ClinVar
PMID:25741868 PMID:28492532
NCBI chr12:112,555,121...112,581,991
Ensembl chr12:112,555,218...112,581,991
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Itga3
integrin alpha 3
ISO
protein:decreased expression:glomerulus (rat)
RGD
PMID:19662603
RGD:2325666
NCBI chr11:94,935,301...94,967,637
Ensembl chr11:94,935,300...94,967,627
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Itgam
integrin alpha M
IMP
RGD
PMID:19752320
RGD:6907051
NCBI chr 7:127,661,812...127,717,663
Ensembl chr 7:127,661,812...127,717,663
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Itgb1
integrin beta 1 (fibronectin receptor beta)
ISO
protein:decreased expression:glomerulus (rat)
RGD
PMID:19662603
RGD:2325666
NCBI chr 8:129,412,135...129,460,060
Ensembl chr 8:129,412,135...129,459,681
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Itgb2
integrin beta 2
IMP
RGD
PMID:19752320 PMID:15277234
RGD:6907051 , RGD:6907066
NCBI chr10:77,366,164...77,401,542
Ensembl chr10:77,366,086...77,401,542
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Itgb3
integrin beta 3
ISO
RGD
PMID:11051455 PMID:8083378
RGD:6907411 , RGD:6907420
NCBI chr11:104,498,826...104,561,302
Ensembl chr11:104,498,826...104,561,302
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Jund
jun D proto-oncogene
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18443593
NCBI chr 8:71,150,389...71,153,265
Ensembl chr 8:71,151,599...71,153,265
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Klkb1
kallikrein B, plasma 1
ISO
protein:increased expression:plasma:
RGD
PMID:2173275
RGD:7327152
NCBI chr 8:45,719,725...45,747,872
Ensembl chr 8:45,719,726...45,747,896
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Lamb2
laminin, beta 2
ISO
ClinVar Annotator: match by term: Glomerulonephritis
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 9:108,357,080...108,367,729
Ensembl chr 9:108,356,935...108,367,729
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Ltbp1
latent transforming growth factor beta binding protein 1
ISO
RGD
PMID:16282705
RGD:7387262
NCBI chr17:75,312,475...75,699,507
Ensembl chr17:75,312,563...75,699,507
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Ltc4s
leukotriene C4 synthase
ISO
protein:altered activity:kidney, cortex (rat)
RGD
PMID:7827126
RGD:2316641
NCBI chr11:50,127,288...50,129,378
Ensembl chr11:50,127,288...50,129,443
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Mapk1
mitogen-activated protein kinase 1
IMP
RGD
PMID:20203158
RGD:7243972
NCBI chr16:16,801,246...16,865,317
Ensembl chr16:16,801,246...16,865,317
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Mir100
microRNA 100
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25758243
NCBI chr 9:41,442,721...41,442,800
Ensembl chr 9:41,442,721...41,442,800
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Mir10b
microRNA 10b
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25758243
NCBI chr 2:74,556,414...74,556,481
Ensembl chr 2:74,556,414...74,556,481
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Mmp3
matrix metallopeptidase 3
ISO
RGD
PMID:15034162 PMID:23224597
RGD:7241253 , RGD:8694105
NCBI chr 9:7,445,845...7,455,975
Ensembl chr 9:7,445,822...7,455,975
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Mpo
myeloperoxidase
disease_progression
IMP ISO
RGD
PMID:17267745 PMID:19238910
RGD:7174702 , RGD:7174705
NCBI chr11:87,684,610...87,695,238
Ensembl chr11:87,684,407...87,695,239
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Ms4a1
membrane-spanning 4-domains, subfamily A, member 1
ISO
protein:increased expression:kidney, glomerulus (rat)
RGD
PMID:7538648
RGD:2316995
NCBI chr19:11,227,043...11,243,513
Ensembl chr19:11,227,039...11,243,605
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Mthfr
methylenetetrahydrofolate reductase
ISO
DNA:transition:cds:g.677C>T (human)
RGD
PMID:22111818
RGD:6893468
NCBI chr 4:148,123,534...148,144,019
Ensembl chr 4:148,123,534...148,144,008
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Myh9
myosin, heavy polypeptide 9, non-muscle
ISO
ClinVar Annotator: match by term: Glomerulonephritis
ClinVar
PMID:25741868 PMID:28492532
NCBI chr15:77,644,788...77,726,315
Ensembl chr15:77,644,787...77,726,375
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Ngf
nerve growth factor
ISO
protein:increased expression:serum CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:24244623 PMID:19169037
RGD:7242783
NCBI chr 3:102,377,235...102,428,329
Ensembl chr 3:102,377,235...102,428,329
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Nppa
natriuretic peptide type A
ISO
associated with Streptococcal Infections;protein:increased expression:plasma
RGD
PMID:12654066
RGD:7248663
NCBI chr 4:148,085,179...148,086,531
Ensembl chr 4:148,085,179...148,086,536
G
Parp1
poly (ADP-ribose) polymerase family, member 1
severity
IMP
RGD
PMID:19454727
RGD:5684011
NCBI chr 1:180,396,456...180,428,564
Ensembl chr 1:180,396,489...180,428,819
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Pdgfb
platelet derived growth factor, B polypeptide
treatment
ISO
RGD
PMID:11316849
RGD:10449490
NCBI chr15:79,880,066...79,899,178
Ensembl chr15:79,880,075...79,899,178
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Pdgfd
platelet-derived growth factor, D polypeptide
ISO
RGD
PMID:21866094
RGD:9854633
NCBI chr 9:6,168,377...6,534,284
Ensembl chr 9:6,168,584...6,378,850
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Pla2g7
phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)
ISO
RGD
PMID:8730430
RGD:7248794
NCBI chr17:43,879,009...43,923,093
Ensembl chr17:43,878,989...43,923,092
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Plce1
phospholipase C, epsilon 1
ISO
ClinVar Annotator: match by term: Glomerulonephritis
ClinVar
PMID:25741868
NCBI chr19:38,469,438...38,773,549
Ensembl chr19:38,469,557...38,773,474
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Pomc
pro-opiomelanocortin-alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:4368615 PMID:6300362
NCBI chr12:4,004,945...4,010,643
Ensembl chr12:4,004,951...4,010,642
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Pparg
peroxisome proliferator activated receptor gamma
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:11318962
NCBI chr 6:115,337,828...115,467,365
Ensembl chr 6:115,337,912...115,467,360
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Prf1
perforin 1 (pore forming protein)
ISO
RGD
PMID:17622272
RGD:6482824
NCBI chr10:61,133,530...61,140,463
Ensembl chr10:61,133,612...61,140,459
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Ptafr
platelet-activating factor receptor
treatment
ISO
RGD
PMID:1668710
RGD:10041057
NCBI chr 4:132,291,378...132,309,994
Ensembl chr 4:132,291,378...132,309,994
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Ptk2b
PTK2 protein tyrosine kinase 2 beta
ISO
protein:increased expression:glomerulus
RGD
PMID:11774117
RGD:729912
NCBI chr14:66,390,706...66,518,549
Ensembl chr14:66,390,706...66,518,501
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Scgb1a1
secretoglobin, family 1A, member 1
ISO
recombinant human SCGB1A1 in "experimental crescentic glomerulonephritis" model (mice)
RGD
PMID:18558621
RGD:6903251
NCBI chr19:9,061,006...9,065,320
Ensembl chr19:9,061,000...9,065,322
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Serpine1
serine (or cysteine) peptidase inhibitor, clade E, member 1
treatment
ISO
RGD
PMID:12897205
RGD:13208810
NCBI chr 5:137,090,358...137,101,126
Ensembl chr 5:137,090,358...137,101,122
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Smad1
SMAD family member 1
ISO
protein:increased phosphorylation:glomerulus
RGD
PMID:15591053
RGD:1643235
NCBI chr 8:80,065,024...80,126,057
Ensembl chr 8:80,065,024...80,126,147
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Spp1
secreted phosphoprotein 1
disease_progression
ISO
RGD
PMID:20720406
RGD:6903272
NCBI chr 5:104,582,977...104,588,919
Ensembl chr 5:104,582,984...104,588,916
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Tbxas1
thromboxane A synthase 1, platelet
ISO
RGD
PMID:10560941
RGD:1601461
NCBI chr 6:38,817,897...39,061,524
Ensembl chr 6:38,852,338...39,061,519
G
Tlr2
toll-like receptor 2
IMP
RGD
PMID:16849506
RGD:7241071
NCBI chr 3:83,743,579...83,749,045
Ensembl chr 3:83,743,579...83,749,074
G
Tlr4
toll-like receptor 4
IMP IDA
RGD
PMID:20844472 PMID:16849506
RGD:4144104 , RGD:7241071
NCBI chr 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521
G
Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9403216 PMID:10910440
NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
G
Tnfrsf1a
tumor necrosis factor receptor superfamily, member 1a
disease_progression treatment
ISO
protein:increased expression:urine
RGD
PMID:20525973 PMID:23400706
RGD:7245516 , RGD:7245540
NCBI chr 6:125,326,686...125,339,446
Ensembl chr 6:125,326,325...125,339,447
G
Tnfrsf1b
tumor necrosis factor receptor superfamily, member 1b
treatment
IMP ISO
RGD
PMID:15841213 PMID:22449555 PMID:23400706
RGD:7245530 , RGD:7245546 , RGD:7245540
NCBI chr 4:144,938,938...144,973,453
Ensembl chr 4:144,940,033...144,973,440
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Tpo
thyroid peroxidase
ISO
RGD
PMID:8393543
RGD:7207483
NCBI chr12:30,104,658...30,182,983
Ensembl chr12:30,104,658...30,182,623
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Trf
transferrin
severity
ISO
RGD
PMID:22607047
RGD:7244194
NCBI chr 9:103,086,075...103,107,485
Ensembl chr 9:103,081,200...103,107,643
G
Vcam1
vascular cell adhesion molecule 1
ISO
protein:increased expression:kidney
RGD
PMID:18574676
RGD:7241215
NCBI chr 3:115,903,669...115,923,337
Ensembl chr 3:115,903,598...115,923,337
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Vegfa
vascular endothelial growth factor A
treatment
ISO
RGD
PMID:15195119
RGD:7421594
NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295
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Wt1
WT1 transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20962747
NCBI chr 2:104,956,874...105,003,959
Ensembl chr 2:104,956,874...105,003,961
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Cfh
complement component factor h
ISO IMP
DNA:SNPs,Haplotype::
RGD
PMID:17517971 PMID:17517971
RGD:7364995 , RGD:7364995
NCBI chr 1:140,013,593...140,111,149
Ensembl chr 1:140,012,446...140,111,502
G
Atic
5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
ISO
ClinVar Annotator: match by term: Glomerulopathy with fibronectin deposits 2
ClinVar
PMID:25741868 PMID:28492532 PMID:29100092 PMID:32200603
NCBI chr 1:71,596,315...71,618,562
Ensembl chr 1:71,596,309...71,618,790
G
Fn1
fibronectin 1
ISO
ClinVar Annotator: match by term: Glomerulopathy with fibronectin deposits 2 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:1544672 PMID:7564073 PMID:7747733 PMID:9536098 PMID:12042895 PMID:16199547 PMID:17576681 PMID:18268355 PMID:25741868 PMID:28492532 PMID:28518168 PMID:29100092 PMID:30599297 PMID:32200603 PMID:32461654 PMID:36774238 More...
NCBI chr 1:71,624,632...71,692,439
Ensembl chr 1:71,624,679...71,692,359
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Inf2
inverted formin, FH2 and WH2 domain containing
ISO
ClinVar Annotator: match by term: Glomerulopathy with fibronectin deposits 2
ClinVar
PMID:25741868
NCBI chr12:112,555,121...112,581,991
Ensembl chr12:112,555,218...112,581,991
G
Ace
angiotensin I converting enzyme
treatment
ISO
RGD
PMID:21718676
RGD:12879389
NCBI chr11:105,858,774...105,880,790
Ensembl chr11:105,858,771...105,880,790
G
Ager
advanced glycosylation end product-specific receptor
treatment
IMP IDA
associated with Diabetic Nephropathies
RGD
PMID:23046363 PMID:20554645
RGD:7243247 , RGD:7244139
NCBI chr17:34,816,545...34,819,911
Ensembl chr17:34,816,836...34,819,910
G
Agtr1a
angiotensin II receptor, type 1a
ISO
mRNA:decreased expression:kidney
RGD
PMID:12495295
RGD:6903859
NCBI chr13:30,520,339...30,566,850
Ensembl chr13:30,520,424...30,566,850
G
Agtr2
angiotensin II receptor, type 2
ISO IMP
associated with Kidney Failure, Chronic mRNA:increased expression:kidney
RGD
PMID:20042458 PMID:20631980 PMID:12495295
RGD:6903284 , RGD:6903882 , RGD:6903859
NCBI chr X:21,350,863...21,355,072
Ensembl chr X:21,350,783...21,355,403
G
Apoe
apolipoprotein E
ISO
protein:increased expression:renal glomerulus (rat)
RGD
PMID:22207560 PMID:21907828
RGD:6903199 , RGD:6903285
NCBI chr 7:19,430,169...19,434,326
Ensembl chr 7:19,430,034...19,433,113
G
Col3a1
collagen, type III, alpha 1
ISO
RGD
PMID:20610530
RGD:7257557
NCBI chr 1:45,350,698...45,388,866
Ensembl chr 1:45,350,698...45,388,866
G
Esr2
estrogen receptor 2 (beta)
susceptibility
IEP
protein:decreased expression:renal glomerulus (mouse)
RGD
PMID:12000739
RGD:7364801
NCBI chr12:76,167,193...76,224,033
Ensembl chr12:76,167,193...76,224,033
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Fbn1
fibrillin 1
IMP
associated with Hypertension
RGD
PMID:16380460
RGD:7365080
NCBI chr 2:125,142,514...125,348,417
Ensembl chr 2:125,142,514...125,349,913
G
Hbegf
heparin-binding EGF-like growth factor
induced
ISO
RGD
PMID:16107576
RGD:1556472
NCBI chr18:36,637,980...36,648,858
Ensembl chr18:36,637,980...36,648,858
G
Il1b
interleukin 1 beta
ISO
associated with Hypertension
RGD
PMID:19948880
RGD:7175503
NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059
G
Mmp1a
matrix metallopeptidase 1a (interstitial collagenase)
ISO
associated with Hyperhomocysteinemia protein:decreased expression:kidney (rat)
RGD
PMID:20406136 PMID:21275176
RGD:7207203 , RGD:7207363
NCBI chr 9:7,464,141...7,476,870
Ensembl chr 9:7,464,141...7,476,857
G
Mmp1b
matrix metallopeptidase 1b (interstitial collagenase)
ISO
associated with Hyperhomocysteinemia protein:decreased expression:kidney (rat)
RGD
PMID:20406136 PMID:21275176
RGD:7207203 RGD:7207363
NCBI chr 9:7,367,670...7,388,026
Ensembl chr 9:7,368,239...7,388,047
G
Mmp9
matrix metallopeptidase 9
ISO
associated with Hyperhomocysteinemia associated with Obesity;mRNA:decreased expression:glomerulus
RGD
PMID:20406136 PMID:9300240
RGD:7207203 , RGD:8547929
NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770
G
Nphs1
nephrosis 1, nephrin
treatment
IEP
RGD
PMID:22125642
RGD:40902998
NCBI chr 7:30,157,259...30,188,048
Ensembl chr 7:30,157,740...30,186,648
G
Pax2
paired box 2
ISO
ClinVar Annotator: match by term: 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:32203253 PMID:33532864 PMID:34696790 PMID:35444690 More...
NCBI chr19:44,735,040...44,826,708
Ensembl chr19:44,735,057...44,826,310
G
Pla2g7
phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)
ISO
RGD
PMID:16213192
RGD:7248790
NCBI chr17:43,879,009...43,923,093
Ensembl chr17:43,878,989...43,923,092
G
Plekha7
pleckstrin homology domain containing, family A member 7
ameliorates
ISO
compared to wild type
RGD
PMID:25136115 PMID:25136115
RGD:11079199 , RGD:11079199
NCBI chr 7:115,722,722...115,907,617
Ensembl chr 7:115,722,720...115,907,611
G
Pparg
peroxisome proliferator activated receptor gamma
treatment
ISO
RGD
PMID:11318962
RGD:8553043
NCBI chr 6:115,337,828...115,467,365
Ensembl chr 6:115,337,912...115,467,360
G
Rgs2
regulator of G-protein signaling 2
susceptibility
ISO
associated with Hypertension
RGD
PMID:26606876
RGD:13524570
NCBI chr 1:143,875,076...143,879,887
Ensembl chr 1:143,875,076...143,879,899
G
Rnls
renalase, FAD-dependent amine oxidase
ISO
RGD
PMID:24022426
RGD:7327155
NCBI chr19:33,115,140...33,369,695
Ensembl chr19:33,115,147...33,369,665
G
Serpine1
serine (or cysteine) peptidase inhibitor, clade E, member 1
treatment
ISO
mRNA, protein:increased expression:kidney (rat)
RGD
PMID:26999660 PMID:27129290
RGD:11073618 , RGD:11073688
NCBI chr 5:137,090,358...137,101,126
Ensembl chr 5:137,090,358...137,101,122
G
Shc1
src homology 2 domain-containing transforming protein C1
ameliorates
ISO
compared to SS/JrHsdMcwi
RGD
PMID:27270176
RGD:12792230
NCBI chr 3:89,325,858...89,337,336
Ensembl chr 3:89,325,750...89,337,334
G
Slc2a1
solute carrier family 2 (facilitated glucose transporter), member 1
IEP
RGD
PMID:19918242
RGD:12879501
NCBI chr 4:118,966,001...118,994,527
Ensembl chr 4:118,965,908...118,995,180
G
Spp1
secreted phosphoprotein 1
ISO
RGD
PMID:12675855
RGD:6903837
NCBI chr 5:104,582,977...104,588,919
Ensembl chr 5:104,582,984...104,588,916
G
Synpo
synaptopodin
treatment
IEP
RGD
PMID:22125642
RGD:40902998
NCBI chr18:60,727,053...60,793,241
Ensembl chr18:60,727,045...60,793,214
G
Tnfrsf1b
tumor necrosis factor receptor superfamily, member 1b
IMP
associated with Hypertension
RGD
PMID:23389459
RGD:7245475
NCBI chr 4:144,938,938...144,973,453
Ensembl chr 4:144,940,033...144,973,440
G
Ccl2
C-C motif chemokine ligand 2
ISO
mRNA, protein:increased expression:kidney, serum (rat)
RGD
PMID:20231821
RGD:11526149
NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279
G
Agt
angiotensinogen
treatment
ISO
RGD
PMID:22089474
RGD:8548895
NCBI chr 8:125,283,326...125,296,445
Ensembl chr 8:125,283,273...125,296,445
G
Agtr1a
angiotensin II receptor, type 1a
treatment
ISO
RGD
PMID:22089474
RGD:8548895
NCBI chr13:30,520,339...30,566,850
Ensembl chr13:30,520,424...30,566,850
G
Cfl1
cofilin 1, non-muscle
ISO
protein:increased phosphorylation:kidney (rat)
RGD
PMID:26450610
RGD:11520804
NCBI chr19:5,540,483...5,544,059
Ensembl chr19:5,540,483...5,545,229
G
Col1a1
collagen, type I, alpha 1
ISO
mRNA:increased expression:juxtamedullary cortex (rat)
RGD
PMID:17977875
RGD:2290351
NCBI chr11:94,827,050...94,843,868
Ensembl chr11:94,827,050...94,843,868
G
Hp
haptoglobin
treatment
ISO
RGD
PMID:24029866
RGD:11041817
NCBI chr 8:110,301,760...110,305,804
Ensembl chr 8:110,301,760...110,305,804
G
Mmp2
matrix metallopeptidase 2
ameliorates
ISO
RGD
PMID:37643020
RGD:401827835
NCBI chr 8:93,553,920...93,580,049
Ensembl chr 8:93,553,919...93,580,048
G
Nppb
natriuretic peptide type B
ISO
RGD
PMID:26063669
RGD:12910116
NCBI chr 4:148,070,264...148,071,662
Ensembl chr 4:148,070,245...148,071,662
G
Postn
periostin, osteoblast specific factor
disease_progression
ISO
mRNA,protein:increased expression:kidney:
RGD
PMID:22403621
RGD:10041032
NCBI chr 3:54,266,688...54,298,462
Ensembl chr 3:54,268,530...54,298,458
G
Ppara
peroxisome proliferator activated receptor alpha
ISO
RGD
PMID:20671072
RGD:5509943
NCBI chr15:85,619,112...85,691,052
Ensembl chr15:85,619,184...85,687,020
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Rag1
recombination activating 1
ameliorates
ISO
RGD
PMID:23364523 PMID:23364523
RGD:7207429 , RGD:7207429
NCBI chr 2:101,468,597...101,479,877
Ensembl chr 2:101,468,627...101,479,846
G
Shc1
src homology 2 domain-containing transforming protein C1
ISO
protein:increased expression:kidney
RGD
PMID:27270176
RGD:12792230
NCBI chr 3:89,325,858...89,337,336
Ensembl chr 3:89,325,750...89,337,334
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Sirt6
sirtuin 6
ISO
protein:decreased expression:kidney
RGD
PMID:30894089
RGD:155260334
NCBI chr10:81,457,621...81,463,631
Ensembl chr10:81,457,619...81,463,631
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Sox18
SRY (sex determining region Y)-box 18
ISO
ClinVar Annotator: match by term: Glomerulonephritis with sparse hair and telangiectases | ClinVar Annotator: match by term: Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
OMIM ClinVar
PMID:2484451 PMID:12740761 PMID:24697860 PMID:25741868 PMID:28492532 PMID:29307792 More...
NCBI chr 2:181,311,630...181,313,433
Ensembl chr 2:181,311,629...181,313,433
G
Ace
angiotensin I converting enzyme
disease_progression
ISO
ClinVar Annotator: match by term: Susceptibility to progression to renal failure in IgA nephropathy CTD Direct Evidence: marker/mechanism DNA:polymorphism:intron:
ClinVar CTD RGD
PMID:1313972 PMID:1319114 PMID:1328889 PMID:1386652 PMID:1976655 PMID:2847529 PMID:2849100 PMID:7593601 PMID:7729604 PMID:7783416 PMID:7854377 PMID:7909524 PMID:8131299 PMID:8131300 PMID:8136829 PMID:8170965 PMID:8208911 PMID:8298638 PMID:8314010 PMID:8541160 PMID:8644984 PMID:8675669 PMID:9120002 PMID:9236417 PMID:9259580 PMID:9699903 PMID:9737775 PMID:9916793 PMID:10099885 PMID:10636736 PMID:10643899 PMID:10841123 PMID:11687636 PMID:11956052 PMID:12220450 PMID:12666117 PMID:14657821 PMID:14872014 PMID:15110771 PMID:15277638 PMID:15381116 PMID:15531537 PMID:15534175 PMID:15635071 PMID:19221299 PMID:15118671 PMID:12220450 More...
RGD:1331525 , RGD:7257515
NCBI chr11:105,858,774...105,880,790
Ensembl chr11:105,858,771...105,880,790
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Acsm3
acyl-CoA synthetase medium-chain family member 3
disease_progression
ISO
DNA:polymorphism: :
RGD
PMID:12484505
RGD:7241283
NCBI chr 7:119,360,106...119,384,119
Ensembl chr 7:119,360,146...119,386,736
G
Adam10
a disintegrin and metallopeptidase domain 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:32715474
NCBI chr 9:70,586,133...70,687,511
Ensembl chr 9:70,586,279...70,687,511
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Add1
adducin 1
disease_progression
ISO
DNA:polymorphism:cds:rs4961(human)
RGD
PMID:19838659
RGD:7174725
NCBI chr 5:34,731,008...34,789,652
Ensembl chr 5:34,731,008...34,789,652
G
Add2
adducin 2
disease_progression
ISO
DNA:polymorphism:cds: rs4984(human)
RGD
PMID:19838659
RGD:7174725
NCBI chr 6:86,005,663...86,101,391
Ensembl chr 6:86,005,663...86,101,391
G
Agt
angiotensinogen
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9259580
NCBI chr 8:125,283,326...125,296,445
Ensembl chr 8:125,283,273...125,296,445
G
Agtr1a
angiotensin II receptor, type 1a
ISO
protein:increased expression:kidney tubule
RGD
PMID:15930094
RGD:6903851
NCBI chr13:30,520,339...30,566,850
Ensembl chr13:30,520,424...30,566,850
G
Agtr2
angiotensin II receptor, type 2
disease_progression
ISO
DNA:polymorphism: :1818A>T (human) protein:increased expression:kidney tubule
RGD
PMID:19194560 PMID:15930094
RGD:6903844 , RGD:6903851
NCBI chr X:21,350,863...21,355,072
Ensembl chr X:21,350,783...21,355,403
G
Aurkb
aurora kinase B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25133636
NCBI chr11:68,936,477...68,942,490
Ensembl chr11:68,936,473...68,942,490
G
B4galt1
UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1
IAGP
OMIM:161950 | OMIM:616818
MouseDO
NCBI chr 4:40,804,602...40,855,711
Ensembl chr 4:40,804,602...40,854,005
G
C1qa
complement component 1, q subcomponent, alpha polypeptide
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8840296 PMID:25133636
NCBI chr 4:136,623,227...136,626,155
Ensembl chr 4:136,623,228...136,626,114
G
C1qb
complement component 1, q subcomponent, beta polypeptide
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25133636
NCBI chr 4:136,607,437...136,613,511
Ensembl chr 4:136,607,440...136,613,498
G
C2
complement C2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25133636
NCBI chr17:35,081,578...35,101,076
Ensembl chr17:35,081,580...35,117,241
G
C3
complement component 3
ISO
mRNA,protein:increased expression, increased activity:kidney
RGD
PMID:11287758
RGD:7175543
NCBI chr17:57,510,967...57,535,136
Ensembl chr17:57,510,970...57,535,136
G
Card9
caspase recruitment domain family, member 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25305756
NCBI chr 2:26,242,199...26,250,957
Ensembl chr 2:26,242,188...26,250,930
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Ccl2
C-C motif chemokine ligand 2
ISO
protein:increased expression:kidney
RGD
PMID:18433541
RGD:2307041
NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279
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Ccl20
C-C motif chemokine ligand 20
disease_progression
ISO
RGD
PMID:23192593
RGD:7483632
NCBI chr 1:83,094,487...83,096,888
Ensembl chr 1:83,094,487...83,096,888
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Ccr6
C-C motif chemokine receptor 6
disease_progression
ISO
RGD
PMID:23192593
RGD:7483632
NCBI chr17:8,454,875...8,477,353
Ensembl chr17:8,454,875...8,475,973
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Cd14
CD14 antigen
disease_progression
ISO
DNA:polymorphism:promoter:c. -159C>T (human)
RGD
PMID:12566518
RGD:7204499
NCBI chr18:36,858,117...36,859,868
Ensembl chr18:36,858,120...36,859,851
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Cd163
CD163 antigen
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25133636
NCBI chr 6:124,281,596...124,307,488
Ensembl chr 6:124,281,615...124,307,486
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Cd44
CD44 antigen
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25133636
NCBI chr 2:102,641,486...102,732,014
Ensembl chr 2:102,641,486...102,732,010
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Cfb
complement factor B
disease_progression
ISO
mRNA:increased expression:kidney protein:increased expression:serum
RGD
PMID:8567024 PMID:17385664 PMID:3118258
RGD:7242737 , RGD:7242759 , RGD:7242754
NCBI chr17:35,075,350...35,081,492
Ensembl chr17:35,075,350...35,081,494
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Cfhr1
complement factor H-related 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21399633
NCBI chr 1:139,474,802...139,487,960
Ensembl chr 1:139,474,791...139,488,010
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Cfhr2
complement factor H-related 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21399633
NCBI chr 1:139,738,030...139,786,437
Ensembl chr 1:139,731,905...139,786,456
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Chga
chromogranin A
ISO
associated with Hypertension;DNA:polymorphism:promoter:-415T>C (human)
RGD
PMID:20113265
RGD:6906902
NCBI chr12:102,521,200...102,531,286
Ensembl chr12:102,521,228...102,531,287
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Coro1c
coronin, actin binding protein 1C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25133636
NCBI chr 5:113,980,500...114,046,767
Ensembl chr 5:113,980,497...114,046,819
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Cxcr2
C-X-C motif chemokine receptor 2
ISO
DNA:SNPs: :rs4674257, rs4674259 (human)
RGD
PMID:21214373
RGD:7257677
NCBI chr 1:74,193,153...74,200,405
Ensembl chr 1:74,193,150...74,200,405
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Defa21
defensin, alpha, 21
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22197929 PMID:25305756
NCBI chr 8:21,515,561...21,516,533
Ensembl chr 8:21,515,561...21,516,532
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Fabp1
fatty acid binding protein 1, liver
ISO
protein:increased expression:urine (human)
RGD
PMID:16118482
RGD:1578453
NCBI chr 6:71,176,863...71,182,018
Ensembl chr 6:71,176,811...71,182,007
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Fas
Fas cell surface death receptor
treatment
ISO
RGD
PMID:29844269
RGD:13792576
NCBI chr19:34,267,926...34,305,175
Ensembl chr19:34,268,066...34,305,172
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Fcgr4
Fc receptor, IgG, low affinity IV
disease_progression
ISO
DNA:polymorphism:exon:p.F176V(human)
RGD
PMID:16221721
RGD:5508463
NCBI chr 1:170,846,495...170,857,330
Ensembl chr 1:170,846,489...170,857,330
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Fn1
fibronectin 1
ISO
protein:increased expression:kidney
RGD
PMID:15925904
RGD:7206844
NCBI chr 1:71,624,632...71,692,439
Ensembl chr 1:71,624,679...71,692,359
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Foxm1
forkhead box M1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25133636
NCBI chr 6:128,339,957...128,352,849
Ensembl chr 6:128,339,930...128,353,109
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Gpr183
G protein-coupled receptor 183
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25133636
NCBI chr14:122,189,743...122,202,605
Ensembl chr14:122,189,963...122,202,607
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H2-Ab1
histocompatibility 2, class II antigen A, beta 1
disease_progression
ISO
CTD Direct Evidence: marker/mechanism DNA:polymorphism: :HLA-DQB1*0301(human)
CTD RGD
PMID:25305756 PMID:7638860
RGD:36174018
NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393
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Havcr1
hepatitis A virus cellular receptor 1
ISO
protein:increased expression:urine:
RGD
PMID:23135864 PMID:21467131
RGD:7245479 , RGD:7245983
NCBI chr11:46,630,644...46,670,405
Ensembl chr11:46,625,907...46,670,405
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Hpse
heparanase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25133636
NCBI chr 5:100,827,350...100,867,582
Ensembl chr 5:100,827,350...100,867,582
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Igf1r
insulin-like growth factor I receptor
ISO
DNA: snp::rs2229765
RGD
PMID:21047277
RGD:7242795
NCBI chr 7:67,601,486...67,883,416
Ensembl chr 7:67,602,575...67,883,416
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Il18
interleukin 18
ISO
RGD
PMID:22518072
RGD:6893446
NCBI chr 9:50,466,000...50,493,141
Ensembl chr 9:50,466,127...50,493,140
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Il1a
interleukin 1 alpha
no_association
ISO
DNA:SNP:promoter:-889C>T (human)
RGD
PMID:21049406
RGD:6907116
NCBI chr 2:129,141,530...129,151,892
Ensembl chr 2:129,141,530...129,151,892
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Il1b
interleukin 1 beta
no_association
ISO
DNA:SNPs: :rs1143627, rs3917356, rs1143633 (human)
RGD
PMID:19280228 PMID:21049406
RGD:6907082 , RGD:6907116
NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059
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Il1rn
interleukin 1 receptor antagonist
susceptibility
ISO IMP
DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human) mouse model treated with human protein response to immunoglobulin therapy rat model treated with human protein protein:decreased expression:serum, urine (human) DNA:polymorphisms:intron, 3' utr:IVS1+1890G>T, IVS1+8796A>G, *138C>G (rs928940, rs439154, rs315951) (human)
RGD
PMID:10916103 PMID:9370186 PMID:9844059 PMID:10079261 PMID:10566895 PMID:16209246 PMID:19280228 More...
RGD:6906961 , RGD:6909150 , RGD:6909132 , RGD:6909131 , RGD:6907427 , RGD:6907414 , RGD:6907082
NCBI chr 2:24,226,872...24,241,503
Ensembl chr 2:24,226,865...24,241,506
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Kif15
kinesin family member 15
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25133636
NCBI chr 9:122,780,146...122,847,798
Ensembl chr 9:122,780,111...122,847,798
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Lair1
leukocyte-associated Ig-like receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25133636
NCBI chr 7:4,010,072...4,076,566
Ensembl chr 7:4,006,401...4,066,178
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Laptm5
lysosomal-associated protein transmembrane 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25133636
NCBI chr 4:130,640,627...130,663,459
Ensembl chr 4:130,640,436...130,663,452
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Lcn2
lipocalin 2
ISO
protein:increased expression:urine:
RGD
PMID:21467131
RGD:7245983
NCBI chr 2:32,274,649...32,277,751
Ensembl chr 2:32,274,645...32,278,264
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Lhfpl2
lipoma HMGIC fusion partner-like 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25133636
NCBI chr13:94,193,659...94,331,918
Ensembl chr13:94,194,304...94,331,917
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Man2b1
mannosidase 2, alpha B1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25133636
NCBI chr 8:85,809,941...85,824,215
Ensembl chr 8:85,809,899...85,824,911
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Mertk
MER proto-oncogene tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25133636
NCBI chr 2:128,540,836...128,645,082
Ensembl chr 2:128,540,876...128,644,814
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Mir20a
microRNA 20a
disease_progression
ISO
RGD
PMID:29459010
RGD:25823149
NCBI chr14:115,281,589...115,281,695
Ensembl chr14:115,281,589...115,281,695
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Mmp14
matrix metallopeptidase 14 (membrane-inserted)
ISO
mRNA:increased expression:glomerulus
RGD
PMID:9848780
RGD:2314955
NCBI chr14:54,669,055...54,679,913
Ensembl chr14:54,669,069...54,682,821
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Ms4a6c
membrane-spanning 4-domains, subfamily A, member 6C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25133636
NCBI chr19:11,446,718...11,464,433
Ensembl chr19:11,446,730...11,459,556
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Mtr
5-methyltetrahydrofolate-homocysteine methyltransferase
ISO
DNA:polymorphism:Cds :2756A>G(human)
RGD
PMID:21737517
RGD:7207085
NCBI chr13:12,196,217...12,273,090
Ensembl chr13:12,197,598...12,272,999
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Muc20
mucin 20
disease_progression
ISO
DNA:repeat
RGD
PMID:16508246
RGD:7364789
NCBI chr16:32,597,793...32,617,805
Ensembl chr16:32,597,793...32,617,805
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Ngf
nerve growth factor
ISO
DNA:SNP: :rs11102930 (human)
RGD
PMID:21178826
RGD:7242801
NCBI chr 3:102,377,235...102,428,329
Ensembl chr 3:102,377,235...102,428,329
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Notch2
notch 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:32715474
NCBI chr 3:97,920,854...98,057,683
Ensembl chr 3:97,920,843...98,057,677
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Otub1
OTU domain, ubiquitin aldehyde binding 1
ISO
protein:increased expression:kidney
RGD
PMID:22279542
RGD:7175260
NCBI chr19:7,175,571...7,183,649
Ensembl chr19:7,175,567...7,183,681
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Pde5a
phosphodiesterase 5A, cGMP-specific
ISO
DNA:SNP: :rs13124532(human)
RGD
PMID:20563733
RGD:7248685
NCBI chr 3:122,522,822...122,653,023
Ensembl chr 3:122,522,596...122,653,023
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Pigr
polymeric immunoglobulin receptor
ISO
ClinVar Annotator: match by term: IgA glomerulonephritis
ClinVar
PMID:12740691 PMID:16282702
NCBI chr 1:130,754,421...130,779,986
Ensembl chr 1:130,754,421...130,779,986
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Pla2g7
phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)
disease_progression
ISO
DNA:polymorphism:exon:
RGD
PMID:12220450
RGD:7257515
NCBI chr17:43,879,009...43,923,093
Ensembl chr17:43,878,989...43,923,092
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Plau
plasminogen activator, urokinase
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:9002298
NCBI chr14:20,886,730...20,893,456
Ensembl chr14:20,886,728...20,893,453
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Prc1
protein regulator of cytokinesis 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25133636
NCBI chr 7:79,944,224...79,966,007
Ensembl chr 7:79,944,198...79,966,007
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Scgb1a1
secretoglobin, family 1A, member 1
disease_progression
ISO IAGP
OMIM:161950 | OMIM:616818
MouseDO RGD
PMID:11967037
RGD:6903255
NCBI chr19:9,061,006...9,065,320
Ensembl chr19:9,061,000...9,065,322
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Sele
selectin, endothelial cell
ISO
DNA:SNP:exon:p.H468Y (human) ClinVar Annotator: match by term: IgA nephropathy, susceptibility to
ClinVar RGD
PMID:11828340 PMID:16282702 PMID:11828340
RGD:1625253
NCBI chr 1:163,867,200...163,886,056
Ensembl chr 1:163,875,773...163,885,246
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Sell
selectin, lymphocyte
ISO
RGD
PMID:17452405 PMID:11828340
RGD:7175290 , RGD:1625253
NCBI chr 1:163,889,556...163,908,354
Ensembl chr 1:163,889,551...163,911,750
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Serpinb7
serine (or cysteine) peptidase inhibitor, clade B, member 7
disease_progression
ISO
DNA:SNPs:3' utr:2093C>T, 2180C>T (human) DNA:SNP:5' utr, exon:267G>A (human) DNA:SNP: :23167A>G (human)
RGD
PMID:18793525 PMID:16796905 PMID:16550745
RGD:7207366 , RGD:7207380 , RGD:7207372
NCBI chr 1:107,350,418...107,380,419
Ensembl chr 1:107,327,385...107,380,419
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Shh
sonic hedgehog
ISO
RGD
PMID:24744439
RGD:12859042
NCBI chr 5:28,661,838...28,672,099
Ensembl chr 5:28,661,813...28,672,254
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Slc43a3
solute carrier family 43, member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25133636
NCBI chr 2:84,766,943...84,788,853
Ensembl chr 2:84,766,923...84,788,853
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Spry2
sprouty RTK signaling antagonist 2
susceptibility
ISO
ClinVar Annotator: match by term: IgA nephropathy, susceptibility to, 3 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:25741868 PMID:25782674
NCBI chr14:106,129,381...106,134,559
Ensembl chr14:106,129,381...106,134,253
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St6galnac2
ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17480010
NCBI chr11:116,567,529...116,586,608
Ensembl chr11:116,566,129...116,585,694 Ensembl chr11:116,566,129...116,585,694
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Stat4
signal transducer and activator of transcription 4
disease_progression no_association
ISO
DNA:SNP: :rs7561832 (human) DNA:SNP:intron:c.274-28828C>G (rs10181656) (human)
RGD
PMID:20045654 PMID:20479942
RGD:7207872 , RGD:7207878
NCBI chr 1:52,026,265...52,146,348
Ensembl chr 1:52,026,307...52,146,348
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Tgfb1
transforming growth factor, beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11728950
NCBI chr 7:25,386,406...25,404,503
Ensembl chr 7:25,386,427...25,404,502
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Timp1
tissue inhibitor of metalloproteinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25133636
NCBI chr X:20,736,524...20,740,972
Ensembl chr X:20,736,405...20,740,974
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Tlr1
toll-like receptor 1
susceptibility
ISO
DNA:snps:promoter, cds:g.-414C>T, p.N248S (rs5743557, rs4833095) (human)
RGD
PMID:21108742
RGD:7246898
NCBI chr 5:65,082,023...65,090,945
Ensembl chr 5:65,082,022...65,090,906
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Tlr9
toll-like receptor 9
severity treatment
IAGP IEP IDA ISO
DNA, mRNA:SNP, increased expression:exon, spleen:g.159C>G (mouse) associated with Graft vs Host Disease; mRNA:increased expression:splenocyte (mouse) DNA:SNPs:intron, exon:IVS4-44A>G, c.1635G>A (rs352139, rs352140) (human)
RGD
PMID:18776126 PMID:21621468 PMID:21621468 PMID:18776126
RGD:7246889 , RGD:7246893 , RGD:7246893 , RGD:7246889
NCBI chr 9:106,099,797...106,104,075
Ensembl chr 9:106,099,797...106,104,082
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Tnf
tumor necrosis factor
treatment
ISO
RGD
PMID:9844059
RGD:6909132
NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
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Tnfrsf1a
tumor necrosis factor receptor superfamily, member 1a
treatment
ISO
protein:increased expression:serum
RGD
PMID:16209246 PMID:9844059
RGD:6907414 , RGD:6909132
NCBI chr 6:125,326,686...125,339,446
Ensembl chr 6:125,326,325...125,339,447
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Tnfrsf1b
tumor necrosis factor receptor superfamily, member 1b
treatment
ISO
protein:increased expression:serum
RGD
PMID:16209246 PMID:9844059
RGD:6907414 , RGD:6909132
NCBI chr 4:144,938,938...144,973,453
Ensembl chr 4:144,940,033...144,973,440
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Tnfsf13
tumor necrosis factor (ligand) superfamily, member 13
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22197929
NCBI chr11:69,573,403...69,576,380
Ensembl chr11:69,573,672...69,576,610
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Tnfsf13b
tumor necrosis factor (ligand) superfamily, member 13b
IAGP
OMIM:161950
MouseDO
NCBI chr 8:10,056,637...10,086,000
Ensembl chr 8:10,056,467...10,089,072
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Tnfsf14
tumor necrosis factor (ligand) superfamily, member 14
IAGP
OMIM:161950
MouseDO
NCBI chr17:57,496,437...57,501,182
Ensembl chr17:57,496,492...57,501,177
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Vav3
vav 3 oncogene
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25305756
NCBI chr 3:109,247,757...109,593,010
Ensembl chr 3:109,247,969...109,593,014
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Vsig4
V-set and immunoglobulin domain containing 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25133636
NCBI chr X:95,290,807...95,337,044
Ensembl chr X:95,290,809...95,337,044
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Was
Wiskott-Aldrich syndrome
IAGP
OMIM:161950 | OMIM:616818
MouseDO
NCBI chr X:7,947,705...7,956,730
Ensembl chr X:7,947,692...7,956,737
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Mir146
microRNA 146
IMP
RGD
PMID:31666653
RGD:126925182
NCBI chr11:43,265,224...43,265,288
Ensembl chr11:43,265,224...43,265,288
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Alb
albumin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10916085 PMID:12217854 PMID:18176075 PMID:23994741
NCBI chr 5:90,608,729...90,624,461
Ensembl chr 5:90,608,756...90,624,461
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Ccl1
C-C motif chemokine ligand 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10385480
NCBI chr11:82,067,492...82,070,638
Ensembl chr11:82,067,483...82,196,516
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Ccl11
C-C motif chemokine ligand 11
ISO
RGD
PMID:21952467
RGD:7247743
NCBI chr11:81,948,658...81,953,781
Ensembl chr11:81,948,649...81,953,781
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Ccl2
C-C motif chemokine ligand 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10385480
NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279
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Ccl7
C-C motif chemokine ligand 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10385480
NCBI chr11:81,936,538...81,938,351
Ensembl chr11:81,936,538...81,938,351
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Crp
C-reactive protein, pentraxin-related
onset
ISO IEP
associated with ureteral obstruction CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:17014549 PMID:21383672 PMID:21383672 PMID:21383672
RGD:6907431 , RGD:6907431 , RGD:6907431
NCBI chr 1:172,525,623...172,527,533
Ensembl chr 1:172,525,622...172,660,598
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Cyp2c65
cytochrome P450, family 2, subfamily c, polypeptide 65
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19814645
NCBI chr19:39,049,450...39,082,392
Ensembl chr19:39,049,459...39,082,388
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Cyp2d22
cytochrome P450, family 2, subfamily d, polypeptide 22
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19814645
NCBI chr15:82,254,728...82,264,461
Ensembl chr15:82,254,728...82,264,461
G
Dcn
decorin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16005714
NCBI chr10:97,315,362...97,354,025
Ensembl chr10:97,315,471...97,354,005
G
mt-Tf
tRNA phenylalanine, mitochondrial
ISO
ClinVar Annotator: match by term: Interstitial nephritis
ClinVar
PMID:11231339 PMID:20142618 PMID:31965079
NCBI chr MT:1...68
Ensembl chr MT:1...68
G
Ngf
nerve growth factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16889433
NCBI chr 3:102,377,235...102,428,329
Ensembl chr 3:102,377,235...102,428,329
G
Ren2
renin 2 tandem duplication of Ren1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:27428043
G
Rnls
renalase, FAD-dependent amine oxidase
ISO
RGD
PMID:24022426
RGD:7327155
NCBI chr19:33,115,140...33,369,695
Ensembl chr19:33,115,147...33,369,665
G
Thbs1
thrombospondin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16005714
NCBI chr 2:117,942,357...117,957,614
Ensembl chr 2:117,942,357...117,957,614
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Xdh
xanthine dehydrogenase
ISO
RGD
PMID:15933230
RGD:13209024
NCBI chr17:74,190,890...74,257,191
Ensembl chr17:74,190,890...74,257,191
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Fan1
FANCD2/FANCI-associated nuclease 1
ISO IAGP
ClinVar Annotator: match by term: FAN1-related condition | ClinVar Annotator: match by term: Karyomegalic interstitial nephritis OMIM:614817
OMIM ClinVar MouseDO
PMID:7847351 PMID:8546134 PMID:16678356 PMID:17304531 PMID:20621605 PMID:20670886 PMID:22772369 PMID:25741868 PMID:26546047 PMID:27196444 PMID:28492532 PMID:29590070 PMID:30773290 PMID:31263571 PMID:32111193 PMID:32220227 PMID:34386670 More...
NCBI chr 7:63,994,627...64,023,874
Ensembl chr 7:63,996,506...64,023,843
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Mtmr10
myotubularin related protein 10
ISO
ClinVar Annotator: match by term: FAN1-related condition | ClinVar Annotator: match by term: Karyomegalic interstitial nephritis
ClinVar
PMID:7847351 PMID:16678356 PMID:17304531 PMID:20621605 PMID:20670886 PMID:22772369 PMID:25741868 PMID:26546047 PMID:27196444 PMID:28492532 PMID:30773290 PMID:31263571 PMID:32111193 PMID:32220227 PMID:34386670 More...
NCBI chr 7:63,937,443...63,990,556
Ensembl chr 7:63,937,401...63,990,554
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Cdkn1a
cyclin dependent kinase inhibitor 1A
treatment
ISO
RGD
PMID:24119646
RGD:10043363
NCBI chr17:29,309,953...29,319,696
Ensembl chr17:29,309,950...29,319,701
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Il13
interleukin 13
ISO
RGD
PMID:17429054
RGD:2290347
NCBI chr11:53,522,150...53,525,529
Ensembl chr11:53,522,151...53,525,529
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Il17a
interleukin 17A
ISO
Protein:increased expression:plasma (rat)
RGD
PMID:22772331
RGD:9068937
NCBI chr 1:20,801,129...20,804,720
Ensembl chr 1:20,801,129...20,804,720
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Lgals1
lectin, galactose binding, soluble 1
ISO
protein:decreased expression:glomerulus, podocytes (rat)
RGD
PMID:19079321
RGD:2316526
NCBI chr15:78,810,925...78,814,665
Ensembl chr15:78,810,925...78,814,665
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Lmx1b
LIM homeobox transcription factor 1 beta
ISO
ClinVar Annotator: match by term: Lipoid nephrosis
ClinVar
PMID:23687361 PMID:32581362
NCBI chr 2:33,450,977...33,531,219
Ensembl chr 2:33,450,977...33,530,620
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Nr3c1
nuclear receptor subfamily 3, group C, member 1
disease_progression
ISO
RGD
PMID:17890747
RGD:7174718
NCBI chr18:39,543,598...39,652,485
Ensembl chr18:39,543,598...39,652,474
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Stat6
signal transducer and activator of transcription 6
severity no_association
ISO
DNA:polymorphism:3' utr:g.2964G>A (human) DNA:polymorphism:3' utr:2964G>A (human) DNA:repeat:exon, 5' utr:g.-3041(GT)15-16 (human)
RGD
PMID:12900808 PMID:15687724 PMID:19011907
RGD:7244138 , RGD:7244146 , RGD:7244144
NCBI chr10:127,478,855...127,496,856
Ensembl chr10:127,478,855...127,496,826
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Ager
advanced glycosylation end product-specific receptor
ISO
DNA:polymorphisms:promoter, intron:g.-429T>C rs1800625, g.-374T>A rs1800624, g.2184A>G rs3134940 (human)
RGD
PMID:22513366
RGD:6767309
NCBI chr17:34,816,545...34,819,911
Ensembl chr17:34,816,836...34,819,910
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Apoc3
apolipoprotein C-III
ISO
protein:increased expression:serum
RGD
PMID:17957542
RGD:7207211
NCBI chr 9:46,144,348...46,146,934
Ensembl chr 9:46,144,231...46,146,934
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C3
complement component 3
ISO
protein:decreased expression:serum CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:31182691 PMID:21888025
RGD:7175544
NCBI chr17:57,510,967...57,535,136
Ensembl chr17:57,510,970...57,535,136
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Ccl2
C-C motif chemokine ligand 2
severity susceptibility
ISO
protein:increased expression:urine (human) DNA:snp:promoter:g.-2518A>G (human)
RGD
PMID:8558841 PMID:15188361
RGD:8549732 , RGD:11528534
NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279
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Ccl3
C-C motif chemokine ligand 3
IEP
RGD
PMID:18187931
RGD:7241814
NCBI chr11:83,538,669...83,540,204
Ensembl chr11:83,538,670...83,540,181
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Ccr1
C-C motif chemokine receptor 1
disease_progression
IMP
RGD
PMID:15153561
RGD:5688164
NCBI chr 9:123,762,163...123,768,729
Ensembl chr 9:123,762,161...123,768,729
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Cd40
CD40 antigen
treatment
IMP IDA
RGD
PMID:23799000 PMID:18566369 PMID:19265127
RGD:7248418 , RGD:7248429 , RGD:7248425
NCBI chr 2:164,897,535...164,913,574
Ensembl chr 2:164,897,547...164,914,868
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Cd40lg
CD40 ligand
treatment
ISO IDA IMP
protein:increased expression:serum
RGD
PMID:20726330 PMID:11751940 PMID:12632425 PMID:13130474 PMID:15693003
RGD:7248426 , RGD:7248714 , RGD:7248710 , RGD:7248600 , RGD:7248439
NCBI chr X:56,257,448...56,269,402
Ensembl chr X:56,257,503...56,269,402
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Cfb
complement factor B
IMP IEP ISO
RGD
PMID:10623824 PMID:3183062 PMID:21893562
RGD:7242736 , RGD:7242763 , RGD:7242755
NCBI chr17:35,075,350...35,081,492
Ensembl chr17:35,075,350...35,081,494
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Cfh
complement component factor h
ISO
RGD
PMID:22171659
RGD:5684551
NCBI chr 1:140,013,593...140,111,149
Ensembl chr 1:140,012,446...140,111,502
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Clu
clusterin
IEP
mRNA:increased expression: epithelial cell of renal tubule
RGD
PMID:9546356
RGD:8890679
NCBI chr14:66,206,093...66,218,992
Ensembl chr14:66,205,932...66,218,996
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Col1a1
collagen, type I, alpha 1
ISO IDA IEP
associated with Graft vs Host Disease mRNA, protein:increased expression:kidney cortex
RGD
PMID:21354048 PMID:7700025 PMID:7723234
RGD:5688301 , RGD:5688333 , RGD:5688332
NCBI chr11:94,827,050...94,843,868
Ensembl chr11:94,827,050...94,843,868
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Crp
C-reactive protein, pentraxin-related
no_association
ISO
DNA:SNP
RGD
PMID:18852001 PMID:17596285 PMID:20039408 PMID:15692982
RGD:6907400 , RGD:5508454 , RGD:6909146 , RGD:6909145
NCBI chr 1:172,525,623...172,527,533
Ensembl chr 1:172,525,622...172,660,598
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Csf1
colony stimulating factor 1 (macrophage)
IMP ISO
RGD
PMID:21885670 PMID:17659436
RGD:7257567 , RGD:7257589
NCBI chr 3:107,648,364...107,668,048
Ensembl chr 3:107,648,364...107,667,785
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Ctla4
cytotoxic T-lymphocyte-associated protein 4
ISO
RGD
PMID:15146424
RGD:7204726
NCBI chr 1:60,948,184...60,954,991
Ensembl chr 1:60,926,159...60,954,991
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Egf
epidermal growth factor
ISO
RGD
PMID:21354048
RGD:5688301
NCBI chr 3:129,471,223...129,548,971
Ensembl chr 3:129,471,214...129,548,965
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Fas
Fas cell surface death receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:33632240 PMID:38555047
NCBI chr19:34,267,926...34,305,175
Ensembl chr19:34,268,066...34,305,172
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Fcgr2b
Fc receptor, IgG, low affinity IIb
IMP
RGD
PMID:15681388
RGD:7240529
NCBI chr 1:170,786,186...170,804,141
Ensembl chr 1:170,786,186...170,804,116
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Fcgr3
Fc receptor, IgG, low affinity III
ISO
DNA:missense mutation:cds:p.H131R (human)
RGD
PMID:15004265
RGD:5147975
NCBI chr 1:170,878,738...170,893,477
Ensembl chr 1:170,878,743...170,892,504
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Fcgr4
Fc receptor, IgG, low affinity IV
susceptibility
ISO
DNA:SNP:cds:p.V158F (human)
RGD
PMID:17596285
RGD:5508454
NCBI chr 1:170,846,495...170,857,330
Ensembl chr 1:170,846,489...170,857,330
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H2-Aa
histocompatibility 2, class II antigen A, alpha
susceptibility
ISO
DNA:polymorphisms:cds:HLA-DQA1*0101 (human) DNA:polymorphisms:cds:HLA-DQA1*0102 (human)
RGD
PMID:12651073
RGD:40902999
NCBI chr17:34,501,718...34,506,797
Ensembl chr17:34,501,718...34,506,797
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H2-Eb1
histocompatibility 2, class II antigen E beta
susceptibility
ISO
DNA:polymorphisms:cds:HLA-DRB1*1501 (human)
RGD
PMID:12651073
RGD:40902999
NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648
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Ifng
interferon gamma
ISO
protein:increased expression:serum,urine CTD Direct Evidence: marker/mechanism protein:increased processing:kidney
CTD RGD
PMID:31182691 PMID:22764573 PMID:29925830
RGD:6893369 , RGD:14974252
NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797
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Il17a
interleukin 17A
treatment
IDA
RGD
PMID:25129462
RGD:9244623
NCBI chr 1:20,801,129...20,804,720
Ensembl chr 1:20,801,129...20,804,720
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Il18
interleukin 18
IEP
RGD
PMID:20980973
RGD:6893449
NCBI chr 9:50,466,000...50,493,141
Ensembl chr 9:50,466,127...50,493,140
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Il1b
interleukin 1 beta
IDA IEP
mRNA:increased expression:renal glomerulus (mouse)
RGD
PMID:21641991 PMID:20410215
RGD:7175315 , RGD:7175344
NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059
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Il1rn
interleukin 1 receptor antagonist
resistance
ISO
associated with Lupus Erythematosus, Systemic; protein:increased expression:serum (human)
RGD
PMID:20538031
RGD:6907068
NCBI chr 2:24,226,872...24,241,503
Ensembl chr 2:24,226,865...24,241,506
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Itgam
integrin alpha M
ISO
RGD
PMID:21719445
RGD:5147916
NCBI chr 7:127,661,812...127,717,663
Ensembl chr 7:127,661,812...127,717,663
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Jak1
Janus kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31182691
NCBI chr 4:101,009,171...101,122,493
Ensembl chr 4:101,009,564...101,122,479
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Klkb1
kallikrein B, plasma 1
susceptibility
ISO
DNA:SNPs:promoter:
RGD
PMID:19307730
RGD:7327150
NCBI chr 8:45,719,725...45,747,872
Ensembl chr 8:45,719,726...45,747,896
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Mbl2
mannose-binding lectin (protein C) 2
disease_progression
ISO
DNA:polymorphism:exon:
RGD
PMID:24850777
RGD:12910847
NCBI chr19:30,210,306...30,217,087
Ensembl chr19:30,210,342...30,217,087
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Mir125a
microRNA 125a
ISO
RNA:decreased expression:kidney
RGD
PMID:30972208
RGD:26884458
NCBI chr17:18,051,074...18,051,141
Ensembl chr17:18,051,074...18,051,141
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Mmp2
matrix metallopeptidase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22479529
NCBI chr 8:93,553,920...93,580,049
Ensembl chr 8:93,553,919...93,580,048
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Mmp9
matrix metallopeptidase 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22479529
NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770
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Mpo
myeloperoxidase
susceptibility
ISO
DNA:polymorphism: :−463G > A (human)
RGD
PMID:17896805
RGD:7174701
NCBI chr11:87,684,610...87,695,238
Ensembl chr11:87,684,407...87,695,239
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Mtor
mechanistic target of rapamycin kinase
IMP
RGD
PMID:17283580
RGD:7245502
NCBI chr 4:148,533,039...148,642,142
Ensembl chr 4:148,533,068...148,642,140
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Muc20
mucin 20
IEP
RGD
PMID:14565953
RGD:7364790
NCBI chr16:32,597,793...32,617,805
Ensembl chr16:32,597,793...32,617,805
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Nr3c1
nuclear receptor subfamily 3, group C, member 1
IEP ISO
RGD
PMID:21509671 PMID:17880936
RGD:7174713 , RGD:7174734
NCBI chr18:39,543,598...39,652,485
Ensembl chr18:39,543,598...39,652,474
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Otub1
OTU domain, ubiquitin aldehyde binding 1
ISO
protein:increased expression:kidney
RGD
PMID:22279542
RGD:7175260
NCBI chr19:7,175,571...7,183,649
Ensembl chr19:7,175,567...7,183,681
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Pdcd1
programmed cell death 1
onset
ISO IMP
DNA:polymorphism: : DNA:polymorphism:intron:6867 C>T (human)
RGD
PMID:15934088 PMID:21041733 PMID:15352422
RGD:7248675 , RGD:7248678 , RGD:7248676
NCBI chr 1:93,966,027...93,980,278
Ensembl chr 1:93,966,027...93,980,278
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Sell
selectin, lymphocyte
IEP
RGD
PMID:20512127
RGD:7175284
NCBI chr 1:163,889,556...163,908,354
Ensembl chr 1:163,889,551...163,911,750
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Serping1
serine (or cysteine) peptidase inhibitor, clade G, member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:4014294
NCBI chr 2:84,595,704...84,605,748
Ensembl chr 2:84,595,731...84,605,788
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Snrpe
small nuclear ribonucleoprotein E
treatment
IDA
mouse model
RGD
PMID:15494537
RGD:10760401
NCBI chr 1:133,531,609...133,538,018
Ensembl chr 1:133,531,609...133,538,029
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Stat1
signal transducer and activator of transcription 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31182691
NCBI chr 1:52,158,588...52,201,024
Ensembl chr 1:52,158,599...52,201,024
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Stat4
signal transducer and activator of transcription 4
IMP
RGD
PMID:20980973
RGD:6893449
NCBI chr 1:52,026,265...52,146,348
Ensembl chr 1:52,026,307...52,146,348
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Stat6
signal transducer and activator of transcription 6
disease_progression
IMP
RGD
PMID:12874250
RGD:7244140
NCBI chr10:127,478,855...127,496,856
Ensembl chr10:127,478,855...127,496,826
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Tlr7
toll-like receptor 7
IMP
RGD
PMID:19944565
RGD:7246905
NCBI chr X:166,086,376...166,113,570
Ensembl chr X:166,087,925...166,113,554
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Tlr9
toll-like receptor 9
severity treatment no_association
IMP IEP IDA ISO
mRNA, protein:increased expression:kidney (mouse) associated with Graft vs Host Disease protein:increased expression:renal glomerulus (human) associated with Lupus Erythematosus, Systemic; DNA:snps:promoter, intron:g.-1486T>C, g.+1174A>G (rs187084, rs352139) (human, North Indian) DNA:snps:intron, exon:g.+1174G>A, g.+1635C>T (rs352139, rs352140) (human, Chinese)
RGD
PMID:23467932 PMID:17469139 PMID:21127878 PMID:19578108 PMID:22787315 PMID:20497632 More...
RGD:7245987 , RGD:7246911 , RGD:7246897 , RGD:7246896 , RGD:7245989 , RGD:7246884
NCBI chr 9:106,099,797...106,104,075
Ensembl chr 9:106,099,797...106,104,082
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Tnf
tumor necrosis factor
ISO
protein:increased expression:glomerular mesangial cell
RGD
PMID:7750940
RGD:7394786
NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
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Tnfrsf11b
tumor necrosis factor receptor superfamily, member 11b (osteoprotegerin)
ISO
associated with Lupus Erythematosus, Systemic;protein:increased expression:urine
RGD
PMID:21691937
RGD:7205483
NCBI chr15:54,114,014...54,141,700
Ensembl chr15:54,114,015...54,141,880
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Tnfrsf1a
tumor necrosis factor receptor superfamily, member 1a
severity
IGI ISO
RGD
PMID:19201910 PMID:10906156
RGD:7245569 , RGD:7245572
NCBI chr 6:125,326,686...125,339,446
Ensembl chr 6:125,326,325...125,339,447
G
Tnfrsf1b
tumor necrosis factor receptor superfamily, member 1b
treatment
ISO IDA
RGD
PMID:22846145 PMID:22674120
RGD:7245541 , RGD:7245544
NCBI chr 4:144,938,938...144,973,453
Ensembl chr 4:144,940,033...144,973,440
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Vcam1
vascular cell adhesion molecule 1
severity
ISO
protein:increased expression:urine
RGD
PMID:22788914
RGD:7241032
NCBI chr 3:115,903,669...115,923,337
Ensembl chr 3:115,903,598...115,923,337
G
Fan1
FANCD2/FANCI-associated nuclease 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22772369
NCBI chr 7:63,994,627...64,023,874
Ensembl chr 7:63,996,506...64,023,843
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Alb
albumin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1556257
NCBI chr 5:90,608,729...90,624,461
Ensembl chr 5:90,608,756...90,624,461
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Angpt2
angiopoietin 2
ISO
protein:increased expression:glomerulus (rat)
RGD
PMID:18272601
RGD:2314193
NCBI chr 8:18,740,279...18,791,578
Ensembl chr 8:18,740,279...18,791,578
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C1qa
complement component 1, q subcomponent, alpha polypeptide
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8840296
NCBI chr 4:136,623,227...136,626,155
Ensembl chr 4:136,623,228...136,626,114
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C3
complement component 3
ISO
ClinVar Annotator: match by term: Mesangiocapillary glomerulonephritis
ClinVar
PMID:32581362
NCBI chr17:57,510,967...57,535,136
Ensembl chr17:57,510,970...57,535,136
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Ccl2
C-C motif chemokine ligand 2
treatment
ISO
RGD
PMID:10411686
RGD:8549648
NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279
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Ccn2
cellular communication network factor 2
ISO
protein:increased expression:kidney, glomerulus (rat)
RGD
PMID:15172885
RGD:1601118
NCBI chr10:24,471,340...24,474,581
Ensembl chr10:24,471,340...24,474,581
G
Ccr6
C-C motif chemokine receptor 6
treatment
ISO
RGD
PMID:23192593
RGD:7483632
NCBI chr17:8,454,875...8,477,353
Ensembl chr17:8,454,875...8,475,973
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Cdk2
cyclin dependent kinase 2
ISO
RGD
PMID:17893107
RGD:2293563
NCBI chr10:128,533,807...128,540,920
Ensembl chr10:128,533,808...128,540,900
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Cdkn1b
cyclin dependent kinase inhibitor 1B
ISO
protein:decreased expression:kidney
RGD
PMID:16787597
RGD:2293620
NCBI chr 6:134,897,364...134,902,488
Ensembl chr 6:134,897,364...134,902,476
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Cfb
complement factor B
IMP ISO
RGD
PMID:12091909 PMID:2329415
RGD:734771 , RGD:7242760
NCBI chr17:35,075,350...35,081,492
Ensembl chr17:35,075,350...35,081,494
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Cfh
complement component factor h
ISO IAGP
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Mesangiocapillary glomerulonephritis | ClinVar Annotator: match by term: Mesangiocapillary glomerulonephritis, type II | ClinVar Annotator: match by term: Non-immunoglobulin-mediated membranoproliferative glomerulonephritis
CTD ClinVar MouseDO
PMID:14978182 PMID:21415311 PMID:22223606 PMID:22403278 PMID:25741868 PMID:28492532 PMID:32581362 PMID:34189567 PMID:34508573 More...
NCBI chr 1:140,013,593...140,111,149
Ensembl chr 1:140,012,446...140,111,502
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Cfi
complement component factor i
IDA
RGD
PMID:18202746
RGD:6906892
NCBI chr 3:129,630,432...129,668,978
Ensembl chr 3:129,629,533...129,668,981
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Cxcr1
C-X-C motif chemokine receptor 1
ISO
RGD
PMID:23336303
RGD:7207859
NCBI chr 1:74,228,862...74,233,867
Ensembl chr 1:74,230,944...74,233,790
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Edn1
endothelin 1
treatment
ISO
mRNA, protein:increased expression:glomerulus (rat)
RGD
PMID:8569091 PMID:11601021
RGD:4144848 , RGD:8662296
NCBI chr13:42,454,952...42,461,466
Ensembl chr13:42,454,952...42,461,466
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Ep300
E1A binding protein p300
treatment
ISO
RGD
PMID:24344329
RGD:9588308
NCBI chr15:81,470,329...81,536,273
Ensembl chr15:81,469,552...81,536,278
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F5
coagulation factor V
ISO
RGD
PMID:15172885
RGD:1601118
NCBI chr 1:163,979,396...164,048,539
Ensembl chr 1:163,979,407...164,047,846
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Fn1
fibronectin 1
ISO
RGD
PMID:10082755
RGD:7206847
NCBI chr 1:71,624,632...71,692,439
Ensembl chr 1:71,624,679...71,692,359
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Il1b
interleukin 1 beta
ISO
RGD
PMID:21871881
RGD:7175308
NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059
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Kcnt2
potassium channel, subfamily T, member 2
ISO
ClinVar Annotator: match by term: Mesangiocapillary glomerulonephritis
ClinVar
PMID:32581362
NCBI chr 1:140,173,373...140,541,783
Ensembl chr 1:140,173,896...140,539,805
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Myoc
myocilin
ISO
protein:increased expression:renal glomerulus (rat)
RGD
PMID:15610237
RGD:7401266
NCBI chr 1:162,466,719...162,477,263
Ensembl chr 1:162,466,724...162,477,262
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Pfn1
profilin 1
ISO
RGD
PMID:8651905
RGD:729497
NCBI chr11:70,542,670...70,547,625
Ensembl chr11:70,542,676...70,545,470
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Pon1
paraoxonase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16175651
NCBI chr 6:5,168,101...5,193,824
Ensembl chr 6:5,168,090...5,193,946
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Prf1
perforin 1 (pore forming protein)
ISO
mRNA:increased expression:glomerulus
RGD
PMID:10886554
RGD:1599935
NCBI chr10:61,133,530...61,140,463
Ensembl chr10:61,133,612...61,140,459
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Sparc
secreted acidic cysteine rich glycoprotein
ISO
mRNA:increased expression:glomerulus
RGD
PMID:8644857
RGD:2300070
NCBI chr11:55,284,985...55,310,906
Ensembl chr11:55,285,326...55,314,009
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Tgfbr2
transforming growth factor, beta receptor II
ISO
RGD
PMID:11703592
RGD:1601601
NCBI chr 9:115,916,763...116,004,431
Ensembl chr 9:115,913,361...116,004,428
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Tlr1
toll-like receptor 1
IEP
mRNA:increased expression:renal glomerulus (mouse)
RGD
PMID:18256364
RGD:7246909
NCBI chr 5:65,082,023...65,090,945
Ensembl chr 5:65,082,022...65,090,906
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Tlr11
toll-like receptor 11
IEP
mRNA:increased expression:renal glomerulus (mouse)
RGD
PMID:18256364
RGD:7246909
NCBI chr14:50,595,371...50,601,120
Ensembl chr14:50,595,371...50,601,120
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Tlr2
toll-like receptor 2
IEP
mRNA:increased expression:renal glomerulus (mouse)
RGD
PMID:18256364
RGD:7246909
NCBI chr 3:83,743,579...83,749,045
Ensembl chr 3:83,743,579...83,749,074
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Tlr4
toll-like receptor 4
IEP
mRNA:increased expression:renal glomerulus (mouse)
RGD
PMID:18256364
RGD:7246909
NCBI chr 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521
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Tlr5
toll-like receptor 5
IEP
mRNA:increased expression:renal glomerulus (mouse)
RGD
PMID:18256364
RGD:7246909
NCBI chr 1:182,782,317...182,804,010
Ensembl chr 1:182,782,353...182,804,010
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Tlr6
toll-like receptor 6
IEP
mRNA:increased expression:renal glomerulus (mouse)
RGD
PMID:18256364
RGD:7246909
NCBI chr 5:65,109,373...65,128,387
Ensembl chr 5:65,109,374...65,117,440
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Tlr7
toll-like receptor 7
IEP
mRNA:increased expression:renal glomerulus (mouse)
RGD
PMID:18256364
RGD:7246909
NCBI chr X:166,086,376...166,113,570
Ensembl chr X:166,087,925...166,113,554
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Tlr8
toll-like receptor 8
IEP
mRNA:increased expression:renal glomerulus (mouse)
RGD
PMID:18256364
RGD:7246909
NCBI chr X:166,024,119...166,047,325
Ensembl chr X:166,025,692...166,047,325
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Tlr9
toll-like receptor 9
IEP
mRNA:increased expression:renal glomerulus (mouse)
RGD
PMID:18256364
RGD:7246909
NCBI chr 9:106,099,797...106,104,075
Ensembl chr 9:106,099,797...106,104,082
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Tslp
thymic stromal lymphopoietin
ISO IAGP
CTD Direct Evidence: marker/mechanism OMIM:305800
CTD MouseDO
PMID:17686814
NCBI chr18:32,948,436...32,952,852
Ensembl chr18:32,948,436...32,952,850
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A2m
alpha-2-macroglobulin
ISO
protein:increased expression:serum
RGD
PMID:9453001
RGD:10046046
NCBI chr 6:121,612,920...121,656,197
Ensembl chr 6:121,612,335...121,656,186
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Abca1
ATP-binding cassette, sub-family A member 1
ISO
RGD
PMID:12507911
RGD:1598547
NCBI chr 4:53,030,789...53,159,988
Ensembl chr 4:53,030,787...53,159,895
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Alb
albumin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1342223 PMID:9794552 PMID:11938814 PMID:12776520 PMID:15385633 PMID:17622271 More...
NCBI chr 5:90,608,729...90,624,461
Ensembl chr 5:90,608,756...90,624,461
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Apoa1
apolipoprotein A-I
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7900854
NCBI chr 9:46,139,928...46,141,767
Ensembl chr 9:46,139,878...46,141,764
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Apoe
apolipoprotein E
ISO
protein:increased expression:serum (rat)
RGD
PMID:22785171
RGD:6903854
NCBI chr 7:19,430,169...19,434,326
Ensembl chr 7:19,430,034...19,433,113
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C3
complement component 3
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:25954969 PMID:10729746
RGD:5129563
NCBI chr17:57,510,967...57,535,136
Ensembl chr17:57,510,970...57,535,136
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C7
complement component 7
ISO
RGD
PMID:6241952
RGD:1599528
NCBI chr15:5,017,232...5,093,230
Ensembl chr15:5,018,244...5,093,222
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Cd40
CD40 antigen
treatment
ISO IMP
RGD
PMID:23223173 PMID:23223173
RGD:8547786 , RGD:8547786
NCBI chr 2:164,897,535...164,913,574
Ensembl chr 2:164,897,547...164,914,868
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Cd40lg
CD40 ligand
treatment
IMP
associated with Lupus Erythematosus, Systemic
RGD
PMID:17911451 PMID:7564113
RGD:7248430 , RGD:7248720
NCBI chr X:56,257,448...56,269,402
Ensembl chr X:56,257,503...56,269,402
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Cdkn1b
cyclin dependent kinase inhibitor 1B
treatment
ISO
RGD
PMID:24583340
RGD:10045363
NCBI chr 6:134,897,364...134,902,488
Ensembl chr 6:134,897,364...134,902,476
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Cfb
complement factor B
susceptibility
ISO
RGD
PMID:3272818
RGD:7242764
NCBI chr17:35,075,350...35,081,492
Ensembl chr17:35,075,350...35,081,494
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Cfh
complement component factor h
ISO
mRNA, protein:increased expression:glomerulus
RGD
PMID:12911541
RGD:1599888
NCBI chr 1:140,013,593...140,111,149
Ensembl chr 1:140,012,446...140,111,502
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Gaa
glucosidase, alpha, acid
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15466083
NCBI chr11:119,158,789...119,176,284
Ensembl chr11:119,158,713...119,176,280
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H2-Aa
histocompatibility 2, class II antigen A, alpha
ISO
DNA:SNP: :rs2187668 (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:11436868 PMID:21323541
RGD:5147785
NCBI chr17:34,501,718...34,506,797
Ensembl chr17:34,501,718...34,506,797
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H2-Eb1
histocompatibility 2, class II antigen E beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11436868
NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648
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Il1b
interleukin 1 beta
ISO
RGD
PMID:20588061
RGD:7175342
NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059
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Lrp2
low density lipoprotein receptor-related protein 2
ISO
mRNA:decreased expression:glomerulus
RGD
PMID:10919857
RGD:1641827
NCBI chr 2:69,254,679...69,416,373
Ensembl chr 2:69,254,684...69,416,409
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Lrpap1
low density lipoprotein receptor-related protein associated protein 1
ISO
mRNA, protein:increased expression:glomerulus, epithelial cell
RGD
PMID:7778686 PMID:7723231
RGD:1641937 , RGD:1641936
NCBI chr 5:35,248,834...35,263,043
Ensembl chr 5:35,248,845...35,263,110
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Map3k5
mitogen-activated protein kinase kinase kinase 5
ISO
protein:increased activity,protein:renal glomerulus:
RGD
PMID:18178252
RGD:10412641
NCBI chr10:19,809,847...20,018,496
Ensembl chr10:19,810,218...20,018,499
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Mme
membrane metallo endopeptidase
ISO
antenatal membranous glomerulonephritis ClinVar Annotator: match by term: Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization
ClinVar RGD
PMID:15464186 PMID:24033266 PMID:25565308 PMID:25741868 PMID:26991897 PMID:27588448 PMID:28492532 PMID:30415211 PMID:15464186 More...
RGD:1600817
NCBI chr 3:63,202,632...63,291,134
Ensembl chr 3:63,148,958...63,293,451
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Mmp9
matrix metallopeptidase 9
ISO
RGD
PMID:8613533
RGD:8547919
NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770
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Nphs1
nephrosis 1, nephrin
ISO
RGD
PMID:15882266
RGD:1598706
NCBI chr 7:30,157,259...30,188,048
Ensembl chr 7:30,157,740...30,186,648
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Nphs2
nephrosis 2, podocin
ISO
RGD
PMID:15882266
RGD:1598706
NCBI chr 1:156,138,105...156,155,605
Ensembl chr 1:156,138,297...156,155,605
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Nqo1
NAD(P)H dehydrogenase, quinone 1
treatment
ISO
RGD
PMID:28711658
RGD:13439719
NCBI chr 8:108,114,856...108,139,012
Ensembl chr 8:108,114,857...108,129,838
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Ptger3
prostaglandin E receptor 3 (subtype EP3)
ISO
mRNA:increased expression:renal cortex (rat)
RGD
PMID:14636300
RGD:10043359
NCBI chr 3:157,272,459...157,350,392
Ensembl chr 3:157,272,529...157,351,525
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Ptpru
protein tyrosine phosphatase receptor type U
ISO
mRNA, protein:decreased expression:glomerulus
RGD
PMID:17457373
RGD:1642654
NCBI chr 4:131,495,768...131,565,617
Ensembl chr 4:131,495,768...131,565,599
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Rhoa
ras homolog family member A
ISO
protein:increased activity:epithelial cell
RGD
PMID:17376765
RGD:1642963
NCBI chr 9:108,183,359...108,215,142
Ensembl chr 9:108,183,328...108,215,133
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Shh
sonic hedgehog
ISO
RGD
PMID:24744439
RGD:12859042
NCBI chr 5:28,661,838...28,672,099
Ensembl chr 5:28,661,813...28,672,254
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Sparc
secreted acidic cysteine rich glycoprotein
ISO
protein:increased expression:kidney
RGD
PMID:8943481
RGD:2300069
NCBI chr11:55,284,985...55,310,906
Ensembl chr11:55,285,326...55,314,009
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Tbxas1
thromboxane A synthase 1, platelet
ISO
RGD
PMID:8982653
RGD:1601473
NCBI chr 6:38,817,897...39,061,524
Ensembl chr 6:38,852,338...39,061,519
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Trf
transferrin
ISO
associated with Lupus Erythematosus, Systemic
RGD
PMID:22328173
RGD:7244198
NCBI chr 9:103,086,075...103,107,485
Ensembl chr 9:103,081,200...103,107,643
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Tslp
thymic stromal lymphopoietin
treatment
IMP
RGD
PMID:11920357
RGD:38549592
NCBI chr18:32,948,436...32,952,852
Ensembl chr18:32,948,436...32,952,850
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Fbn1
fibrillin 1
ISO
mRNA:increased expression:cortex of kidney
RGD
PMID:25482639
RGD:12910487
NCBI chr 2:125,142,514...125,348,417
Ensembl chr 2:125,142,514...125,349,913
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Fgfr1
fibroblast growth factor receptor 1
ISO
mRNA:increased expression:mesangial cell
RGD
PMID:10592054
RGD:10402100
NCBI chr 8:26,008,808...26,067,819
Ensembl chr 8:26,003,670...26,065,734
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Gadd45g
growth arrest and DNA-damage-inducible 45 gamma
ISO
mRNA,protein:increased expression:kidney
RGD
PMID:16736195
RGD:14700866
NCBI chr13:52,000,711...52,002,511
Ensembl chr13:52,000,714...52,002,504
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Itga8
integrin alpha 8
ISO
mRNA:increased expression:cortex of kidney
RGD
PMID:25482639
RGD:12910487
NCBI chr 2:12,111,443...12,306,755
Ensembl chr 2:12,111,443...12,306,733
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Itgam
integrin alpha M
exacerbates
ISO
RGD
PMID:10623679
RGD:329901927
NCBI chr 7:127,661,812...127,717,663
Ensembl chr 7:127,661,812...127,717,663
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Nr4a1
nuclear receptor subfamily 4, group A, member 1
ISO
mRNA,protein:increased expression:kidney
RGD
PMID:16736195
RGD:14700866
NCBI chr15:101,151,783...101,172,676
Ensembl chr15:101,152,150...101,172,676
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Pdgfd
platelet-derived growth factor, D polypeptide
treatment
ISO
mRNA,protein:increased expression:glomerulus,serum:
RGD
PMID:17308324 PMID:12937299
RGD:9854629 , RGD:9854637
NCBI chr 9:6,168,377...6,534,284
Ensembl chr 9:6,168,584...6,378,850
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Rapgef1
Rap guanine nucleotide exchange factor (GEF) 1
ISO
protein:increased expression:renal glomerulus
RGD
PMID:20725139
RGD:11534982
NCBI chr 2:29,509,732...29,630,376
Ensembl chr 2:29,509,732...29,630,990
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Vwf
Von Willebrand factor
ISO
protein:increased expression:glomerulus:
RGD
PMID:10450036
RGD:11079208
NCBI chr 6:125,529,911...125,663,642
Ensembl chr 6:125,523,737...125,663,642
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Anxa5
annexin A5
ISO
protein:increased expression:urine
RGD
PMID:17999093
RGD:7242031
NCBI chr 3:36,503,072...36,530,036
Ensembl chr 3:36,503,072...36,530,043
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Avil
advillin
ISO
ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome
ClinVar
PMID:25741868 PMID:29058690
NCBI chr10:126,835,933...126,856,857
Ensembl chr10:126,836,578...126,856,863
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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:19268410 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:27193387 PMID:28117080 PMID:28476686 PMID:28492532 PMID:28658201 PMID:28780565 PMID:29382718 PMID:29644057 PMID:29660491 PMID:29982877 PMID:30013592 PMID:30260545 PMID:30280213 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:35099763 PMID:35368817 PMID:36167728 PMID:36239278 More...
NCBI chr 1:156,157,985...156,248,743
Ensembl chr 1:156,151,079...156,248,729
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Col4a3
collagen, type IV, alpha 3
ISO
ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome
ClinVar
PMID:25741868
NCBI chr 1:82,564,647...82,699,778
Ensembl chr 1:82,564,642...82,699,780
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Col4a4
collagen, type IV, alpha 4
ISO
ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:82,426,140...82,564,570
Ensembl chr 1:82,426,144...82,564,570
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Col4a5
collagen, type IV, alpha 5
ISO
ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome
ClinVar
PMID:32581362
NCBI chr X:140,258,367...140,472,232
Ensembl chr X:140,258,381...140,472,230
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Crb2
crumbs family member 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 2:37,666,238...37,689,115
Ensembl chr 2:37,666,261...37,689,115
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Fat1
FAT atypical cadherin 1
ISO
ClinVar Annotator: match by term: Familial idiopathic steroid-resistant nephrotic syndrome
ClinVar
PMID:25615407 PMID:25741868 PMID:26905694 PMID:30862798
NCBI chr 8:45,386,137...45,505,294
Ensembl chr 8:45,388,484...45,505,294
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Nphs2
nephrosis 2, 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: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:27193387 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:30280213 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:35099763 PMID:35368817 PMID:36167728 PMID:36239278 More...
NCBI chr 1:156,138,105...156,155,605
Ensembl chr 1:156,138,297...156,155,605
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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 chr18:39,543,598...39,652,485
Ensembl chr18:39,543,598...39,652,474
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Nup205
nucleoporin 205
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26878725
NCBI chr 6:35,154,551...35,224,534
Ensembl chr 6:35,154,356...35,224,531
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Nup93
nucleoporin 93
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26878725
NCBI chr 8:94,941,203...95,043,858
Ensembl chr 8:94,941,192...95,043,855
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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 chr19:44,735,040...44,826,708
Ensembl chr19:44,735,057...44,826,310
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Pla2g7
phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)
disease_progression
ISO
RGD
PMID:9853251
RGD:7248793
NCBI chr17:43,879,009...43,923,093
Ensembl chr17:43,878,989...43,923,092
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Plce1
phospholipase C, epsilon 1
ISO
DNA:mutations: :
RGD
PMID:20591883
RGD:7257521
NCBI chr19:38,469,438...38,773,549
Ensembl chr19:38,469,557...38,773,474
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Smarcal1
SNF2 related chromatin remodeling ATPase 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 chr 1:72,575,593...72,675,949
Ensembl chr 1:72,622,410...72,672,293
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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 9:8,543,868...8,680,753
Ensembl chr 9:8,544,143...8,680,742
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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 chr10:126,858,201...126,866,683
Ensembl chr10:126,847,441...126,866,709
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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:9090524 PMID:9398852 PMID:9475094 PMID:9499425 PMID:9529364 PMID:9536098 PMID:9607189 PMID:10094551 PMID:10505699 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:24033266 PMID:24161391 PMID:24856380 PMID:25501161 PMID:25623218 PMID:25741868 PMID:25813279 PMID:25818337 PMID:26069768 PMID:26467025 PMID:27719739 PMID:28204945 PMID:28492532 PMID:28780565 PMID:29668062 PMID:29869118 PMID:30406062 PMID:30655312 PMID:32352694 PMID:32581362 PMID:33742552 PMID:34386660 PMID:34622098 PMID:35211794 PMID:35904974 PMID:36245711 PMID:36964972 PMID:36980135 More...
NCBI chr 2:104,956,874...105,003,959
Ensembl chr 2:104,956,874...105,003,961
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Xpo5
exportin 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26878725
NCBI chr17:46,513,737...46,554,524
Ensembl chr17:46,513,708...46,554,524
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Dgke
diacylglycerol kinase, epsilon
susceptibility
ISO
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 7 | ClinVar Annotator: match by term: DGKE-related condition | ClinVar Annotator: match by term: Hemolytic uremic syndrome with DGKE deficiency | ClinVar Annotator: match by term: Immunoglobulin-mediated membranoproliferative glomerulonephritis | ClinVar Annotator: match by term: Nephrotic syndrome, type 7
ClinVar OMIM
PMID:23274426 PMID:23542698 PMID:24747643 PMID:25135762 PMID:25349199 PMID:25443527 PMID:25741868 PMID:25854283 PMID:28056875 PMID:28117080 PMID:28492532 PMID:28496993 PMID:28526779 PMID:28720077 PMID:29127259 PMID:29590070 PMID:29869118 PMID:37466676 More...
NCBI chr11:88,926,005...88,951,644
Ensembl chr11:88,926,005...88,957,676
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Calca
calcitonin/calcitonin-related polypeptide, alpha
IMP
RGD
PMID:15928032
RGD:7204486
NCBI chr 7:114,225,223...114,236,145
Ensembl chr 7:114,230,713...114,235,592
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Ace
angiotensin I converting enzyme
ISO
protein:decreased expression:kidney, brush border epithelial cell (human)
RGD
PMID:10504496
RGD:8158033
NCBI chr11:105,858,774...105,880,790
Ensembl chr11:105,858,771...105,880,790
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Ambp
alpha 1 microglobulin/bikunin precursor
ISO
RGD
PMID:19205372
RGD:6904156
NCBI chr 4:63,061,512...63,072,409
Ensembl chr 4:63,061,512...63,073,036
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B2m
beta-2 microglobulin
ISO
RGD
PMID:21797109
RGD:6482315
NCBI chr 2:121,978,168...121,983,563
Ensembl chr 2:121,978,167...121,983,564
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Bmp7
bone morphogenetic protein 7
ISO
protein:decreased expression:kidney
RGD
PMID:16034630
RGD:2289039
NCBI chr 2:172,709,805...172,782,114
Ensembl chr 2:172,709,805...172,782,114
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Calca
calcitonin/calcitonin-related polypeptide, alpha
ISO
RGD
PMID:15286264
RGD:7205498
NCBI chr 7:114,225,223...114,236,145
Ensembl chr 7:114,230,713...114,235,592
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Cfb
complement factor B
ISO
associated with pregnancy complications;protein:increased activity:plasma
RGD
PMID:20218820
RGD:7242756
NCBI chr17:35,075,350...35,081,492
Ensembl chr17:35,075,350...35,081,494
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Crp
C-reactive protein, pentraxin-related
ISO
RGD
PMID:21797109
RGD:6482315
NCBI chr 1:172,525,623...172,527,533
Ensembl chr 1:172,525,622...172,660,598
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Cxcr1
C-X-C motif chemokine receptor 1
ISO
DNA:SNP: :2608G>C (human) DNA:mutations, polymorphisms: :multiple
RGD
PMID:22325052 PMID:17786197
RGD:7207860 , RGD:7207864
NCBI chr 1:74,228,862...74,233,867
Ensembl chr 1:74,230,944...74,233,790
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Cxcr2
C-X-C motif chemokine receptor 2
IMP
RGD
PMID:21814172
RGD:7257675
NCBI chr 1:74,193,153...74,200,405
Ensembl chr 1:74,193,150...74,200,405
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Cyb5a
cytochrome b5 type A (microsomal)
ISO
RGD
PMID:9848217
RGD:1599663
NCBI chr18:84,869,463...84,897,996
Ensembl chr18:84,856,829...84,897,996
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Il1rn
interleukin 1 receptor antagonist
ISO
protein:increased expression:urine (human)
RGD
PMID:8640042
RGD:6907372
NCBI chr 2:24,226,872...24,241,503
Ensembl chr 2:24,226,865...24,241,506
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Il3
interleukin 3
ISO
mRNA:increased expression:kidney
RGD
PMID:18214547
RGD:2317665
NCBI chr11:54,155,911...54,158,105
Ensembl chr11:54,156,129...54,158,103
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Pgf
placental growth factor
ISO
protein:decreased expression:plasma
RGD
PMID:20213923
RGD:6483586
NCBI chr12:85,213,413...85,224,087
Ensembl chr12:85,213,409...85,224,564
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Pim1
proviral integration site 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23565217
NCBI chr17:29,709,759...29,715,085
Ensembl chr17:29,709,727...29,715,086
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Retn
resistin
ISO
protein:increased expression:plasma
RGD
PMID:20178460
RGD:7207160
NCBI chr 8:3,705,770...3,709,818
Ensembl chr 8:3,705,770...3,710,110
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Tlr1
toll-like receptor 1
susceptibility
ISO
DNA:snp:cds:p.S602I (human)
RGD
PMID:19543401
RGD:7246906
NCBI chr 5:65,082,023...65,090,945
Ensembl chr 5:65,082,022...65,090,906
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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:9590287 PMID:9837817 PMID:23687361 PMID:24042019 PMID:25741868 PMID:26560070 PMID:28059119 PMID:28492532 PMID:28780565 PMID:29127259 PMID:29869118 PMID:32356190 PMID:32581362 PMID:32791958 PMID:33532864 More...
NCBI chr 2:33,450,977...33,531,219
Ensembl chr 2:33,450,977...33,530,620
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Crp
C-reactive protein, pentraxin-related
disease_progression
ISO
RGD
PMID:20813859
RGD:6907435
NCBI chr 1:172,525,623...172,527,533
Ensembl chr 1:172,525,622...172,660,598
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H2-Aa
histocompatibility 2, class II antigen A, alpha
ISO
DNA:polymorphism (human)
RGD
PMID:12556395
RGD:5147802
NCBI chr17:34,501,718...34,506,797
Ensembl chr17:34,501,718...34,506,797
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H2-Ab1
histocompatibility 2, class II antigen A, beta 1
ISO
DNA:polymorphisms:cds:HLA-DQB1*05, HLA-DQB1*0501 (human)
RGD
PMID:12556395
RGD:5147802
NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393
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H2-Eb1
histocompatibility 2, class II antigen E beta
ISO
DNA:polymorphism (human)
RGD
PMID:12556395
RGD:5147802
NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648
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Muc1
mucin 1, transmembrane
ISO
protein:increased expression:kidney tubule, serum:
RGD
PMID:17162148
RGD:7246892
NCBI chr 3:89,136,363...89,140,688
Ensembl chr 3:89,136,364...89,140,688
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Atg4a
autophagy related 4A, cysteine peptidase
ISO
ClinVar Annotator: match by term: X-linked Alport syndrome
ClinVar
NCBI chr X:139,854,594...139,947,190
Ensembl chr X:139,857,656...139,947,266
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Col4a4
collagen, type IV, alpha 4
ISO
ClinVar Annotator: match by term: X-linked Alport syndrome
ClinVar
PMID:12028435 PMID:17216251 PMID:17396119 PMID:19129241 PMID:19675380 PMID:20029656 PMID:24033266 PMID:25514610 PMID:25741868 PMID:25755845 PMID:26467025 PMID:28492532 More...
NCBI chr 1:82,426,140...82,564,570
Ensembl chr 1:82,426,144...82,564,570
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Col4a5
collagen, type IV, alpha 5
ISO IAGP
ClinVar Annotator: match by term: COL4A5-related condition | ClinVar Annotator: match by term: X-linked Alport syndrome OMIM:301050
OMIM ClinVar MouseDO
PMID:94548 PMID:1330889 PMID:1352287 PMID:1363780 PMID:1376965 PMID:1577459 PMID:1598909 PMID:1635357 PMID:1672282 PMID:1783380 PMID:2349482 PMID:2680980 PMID:2995919 PMID:6650503 PMID:7485125 PMID:7599631 PMID:7695699 PMID:7969679 PMID:8218237 PMID:8406498 PMID:8433568 PMID:8455372 PMID:8648925 PMID:8651292 PMID:8651296 PMID:8738805 PMID:8807602 PMID:8825605 PMID:8887300 PMID:8940267 PMID:9150741 PMID:9195222 PMID:9452056 PMID:9535854 PMID:9536098 PMID:9724608 PMID:9848783 PMID:10094548 PMID:10561141 PMID:10563487 PMID:10684360 PMID:10752524 PMID:10862091 PMID:10872188 PMID:11223851 PMID:11462238 PMID:11572889 PMID:12028435 PMID:12105244 PMID:12796257 PMID:13582260 PMID:14514738 PMID:14604828 PMID:14856448 PMID:14993485 PMID:15044104 PMID:15780079 PMID:15954103 PMID:15957001 PMID:16199547 PMID:16941480 PMID:17277342 PMID:17396119 PMID:17576681 PMID:17660027 PMID:18083113 PMID:18332068 PMID:18343956 PMID:18616531 PMID:19019929 PMID:19344236 PMID:19728970 PMID:19919694 PMID:19965530 PMID:20130921 PMID:20301386 PMID:20378821 PMID:20574986 PMID:20881942 PMID:20884774 PMID:21332469 PMID:21505094 PMID:21688191 PMID:21848006 PMID:22921432 PMID:22995991 PMID:23144074 PMID:23371956 PMID:23572034 PMID:23720012 PMID:23967202 PMID:24033266 PMID:24033287 PMID:24046192 PMID:24077912 PMID:24088041 PMID:24130771 PMID:24304881 PMID:24359068 PMID:24470729 PMID:24472419 PMID:24522658 PMID:24759409 PMID:24854265 PMID:25183659 PMID:25307721 PMID:25525159 PMID:25572247 PMID:25575550 PMID:25644381 PMID:25739341 PMID:25741868 PMID:25788563 PMID:25876686 PMID:26014433 PMID:26063487 PMID:26346198 PMID:26467025 PMID:26613025 PMID:26633545 PMID:26809805 PMID:26934356 PMID:27281700 PMID:27353043 PMID:27627812 PMID:27725732 PMID:28492532 PMID:28542346 PMID:28780565 PMID:28827396 PMID:28844315 PMID:28864840 PMID:29098738 PMID:29127259 PMID:29142990 PMID:29144512 PMID:29198386 PMID:29204651 PMID:29270492 PMID:29526710 PMID:29801666 PMID:29854973 PMID:29959198 PMID:30128941 PMID:30295827 PMID:30311386 PMID:30348286 PMID:30477285 PMID:30577881 PMID:30586318 PMID:30647093 PMID:30655312 PMID:30661074 PMID:30691124 PMID:30773290 PMID:30919572 PMID:30968591 PMID:31027891 PMID:31096494 PMID:31138263 PMID:31144478 PMID:31328266 PMID:31349857 PMID:31481700 PMID:31576025 PMID:31738409 PMID:31850286 PMID:31922066 PMID:32203225 PMID:32359821 PMID:32405592 PMID:32604935 PMID:32607233 PMID:32647767 PMID:32659759 PMID:32939031 PMID:33040356 PMID:33128955 PMID:33226606 PMID:33233744 PMID:33309955 PMID:33330536 PMID:33352923 PMID:33369211 PMID:33532864 PMID:33633790 PMID:33712733 PMID:33851121 PMID:33854215 PMID:34008892 PMID:34215756 PMID:34225668 PMID:34400539 PMID:34440452 PMID:34693267 PMID:34746741 PMID:34901190 PMID:35004319 PMID:35005319 PMID:35020912 PMID:35022790 PMID:35132093 PMID:35155874 PMID:35243249 PMID:35368817 PMID:35580552 PMID:35643372 PMID:35789182 PMID:35802133 PMID:36100708 PMID:36177613 PMID:36239278 PMID:36553470 PMID:36588757 PMID:36633841 PMID:36685964 PMID:36721056 PMID:36874354 PMID:37097554 PMID:37100867 PMID:37464296 PMID:38249544 PMID:38668984 PMID:38680391 PMID:38790222 PMID:39413162 More...
NCBI chr X:140,258,367...140,472,232
Ensembl chr X:140,258,381...140,472,230
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Col4a6
collagen, type IV, alpha 6
ISO
ClinVar Annotator: match by term: X-linked Alport syndrome
ClinVar
NCBI chr X:139,948,399...140,257,091
Ensembl chr X:139,948,399...140,257,072
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Fn1
fibronectin 1
ISO
ClinVar Annotator: match by term: X-linked Alport syndrome
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:71,624,632...71,692,439
Ensembl chr 1:71,624,679...71,692,359
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Msr1
macrophage scavenger receptor 1
ISO
ClinVar Annotator: match by term: X-linked Alport syndrome
ClinVar
PMID:12244320 PMID:12958598 PMID:21791690 PMID:24082139 PMID:25333069 PMID:25741868 PMID:28492532 More...
NCBI chr 8:39,996,284...40,095,790
Ensembl chr 8:40,034,726...40,095,714
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Zc3h12c
zinc finger CCCH type containing 12C
ISO
ClinVar Annotator: match by term: X-linked Alport syndrome
ClinVar
PMID:25741868
NCBI chr 9:52,020,869...52,080,028
Ensembl chr 9:52,022,644...52,079,872
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