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.
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ACE
angiotensin I converting enzyme
ISO
RGD
PMID:19164508
RGD:2325229
NCBI chr17:57,556,294...57,577,294
Ensembl chr17:62,702,341...62,733,853
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ADM
adrenomedullin
ISO
associated with Anti-Glomerular Basement Membrane Disease CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:15063164 PMID:15680492 PMID:16735801 PMID:20431304
RGD:1625317 RGD:2325320
NCBI chr11:10,437,712...10,440,053
Ensembl chr11:10,165,418...10,167,842
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AGT
angiotensinogen
disease_progression
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:11459117 PMID:15888567
RGD:13432360
NCBI chr 1:206,252,141...206,263,830
Ensembl chr 1:211,279,015...211,291,044
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AGTR2
angiotensin II receptor type 2
ISO
RGD
PMID:19139720
RGD:6903845
NCBI chr X:105,252,903...105,257,171
Ensembl chr X:115,671,594...115,672,685
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AIF1
allograft inflammatory factor 1
ISO
protein:increased expression:kidney (rat)
RGD
PMID:17035944
RGD:2313038
NCBI chr 6:31,276,215...31,278,051
Ensembl chr 6:32,166,301...32,168,125
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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 4:50,773,244...50,790,474
Ensembl chr 4:56,605,322...56,622,418
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ALOX15
arachidonate 15-lipoxygenase
ISO
RGD
PMID:7967345
RGD:5128564
NCBI chr17:4,686,339...4,696,877
Ensembl chr17:4,677,125...4,687,669
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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 chr13:12,012,399...12,041,557
Ensembl chr13:30,425,510...30,476,607
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ANXA5
annexin A5
ISO
RGD
PMID:11271515
RGD:7241853
NCBI chr 4:113,868,218...113,897,243
Ensembl chr 4:125,006,038...125,034,972
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APOE
apolipoprotein E
ISO
Apoe(-/-) Id3(-/-) double knockout
RGD
PMID:21801865
RGD:6903286
NCBI chr19:41,853,669...41,857,252
Ensembl chr19:50,459,906...50,463,490
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AXL
AXL receptor tyrosine kinase
ISO
RGD
PMID:11290560
RGD:1579882
NCBI chr19:38,211,555...38,254,464
Ensembl chr19:46,719,615...46,761,747
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BCL2L11
BCL2 like 11
ISO
RGD
PMID:10576740
RGD:734641
NCBI chr2A:90,862,070...90,909,833
Ensembl chr2A:112,337,927...112,385,079
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BDKRB1
bradykinin receptor B1
ISO
RGD
PMID:20448019
RGD:7241551
NCBI chr14:76,885,923...76,894,456
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C1QA
complement C1q A chain
susceptibility
ISO
DNA:nonsense mutation (human)
RGD
PMID:8840296
RGD:1600549
NCBI chr 1:21,821,927...21,825,020
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C3
complement C3
ISO
RGD
PMID:11950907
RGD:5129550
NCBI chr19:5,708,211...5,753,178
Ensembl chr19:6,629,287...6,674,699
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C6
complement C6
ISO
RGD
PMID:10807586
RGD:1600489
NCBI chr 5:69,174,411...69,245,801
Ensembl chr 5:74,216,244...74,288,588
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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 chr17:22,425,022...22,430,243
Ensembl chr17:22,719,425...22,722,341
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CCL2
C-C motif chemokine ligand 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10385480
NCBI chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384
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CCL5
C-C motif chemokine ligand 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10385480
NCBI chr17:20,915,198...20,923,530
Ensembl chr17:21,210,798...21,219,172
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CD163
CD163 molecule
ISO
associated with liver disease;protein:increased expression:blood serum (human)
RGD
PMID:26339412
RGD:11251207
NCBI chr12:7,616,714...7,649,768
Ensembl chr12:7,775,343...7,810,023
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CD59
CD59 molecule (CD59 blood group)
ISO
RGD
PMID:7523753
RGD:1600500
NCBI chr11:33,680,580...33,708,479
Ensembl chr11:33,552,164...33,590,157
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CFD
complement factor D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14675043
G
CFH
complement factor H
ISO
RGD
PMID:17344423
RGD:7365002
NCBI chr 1:172,155,882...172,251,632
Ensembl chr 1:176,455,247...176,525,521
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CFI
complement factor I
ISO
MouseDO
NCBI chr 4:102,236,868...102,311,359
Ensembl chr 4:112,804,645...112,865,581
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CNDP1
carnosine dipeptidase 1
ISO
RGD
PMID:20851293
RGD:7207223
NCBI chr18:67,920,453...67,982,843
Ensembl chr18:71,162,331...71,188,879 Ensembl chr18:71,162,331...71,188,879
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COL4A3
collagen type IV alpha 3 chain
ISO
RGD
PMID:11158397
RGD:1600928
NCBI chr2B:114,410,703...114,559,336
Ensembl chr2B:233,294,783...233,371,021
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COL4A4
collagen type IV alpha 4 chain
ISO
ClinVar Annotator: match by term: 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 chr2B:114,227,135...114,410,564
Ensembl chr2B:233,065,678...233,205,892
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CPB2
carboxypeptidase B2
ISO
RGD
PMID:18612543
RGD:7243117
NCBI chr13:26,926,788...26,979,767
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CSF1
colony stimulating factor 1
ISO
RGD
PMID:11477167
RGD:7257579
NCBI chr 1:112,555,755...112,575,894
Ensembl chr 1:127,764,916...127,781,943
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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 chr16:37,646,447...37,659,078
Ensembl chr16:56,779,065...56,791,760
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CX3CR1
C-X3-C motif chemokine receptor 1
ISO
mRNA:increased expression:glomerulus
RGD
PMID:10432400 PMID:14605272
RGD:4891995 RGD:4892027
NCBI chr 3:39,158,346...39,176,604
Ensembl chr 3:39,440,955...39,457,219
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CXCL8
C-X-C motif chemokine ligand 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9403216 PMID:10910440
NCBI chr 4:50,452,857...50,456,015
Ensembl chr 4:56,286,708...56,288,083
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CXCR3
C-X-C motif chemokine receptor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12517959
NCBI chr X:60,880,759...60,883,355
Ensembl chr X:70,933,160...70,935,756
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DES
desmin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20962747
NCBI chr2B:106,675,761...106,684,129
Ensembl chr2B:225,266,261...225,273,604
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ELANE
elastase, neutrophil expressed
ISO
RGD
PMID:19752320
RGD:6907051
NCBI chr19:276,499...280,598
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EP300
E1A binding protein p300
ISO
protein:increased expression:glomerulus, renal tubule (human)
RGD
PMID:17125594
RGD:7327154
NCBI chr22:21,986,467...22,076,921
Ensembl chr22:40,079,503...40,168,604
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ESR1
estrogen receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20962747
NCBI chr 6:149,507,599...149,918,523
Ensembl chr 6:154,317,002...154,631,551
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F2
coagulation factor II, thrombin
ISO
protein:increased expression;urine
RGD
PMID:15164604 PMID:17519558
RGD:6893586 RGD:6893593
NCBI chr11:46,669,925...46,690,391
Ensembl chr11:47,227,891...47,249,157
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FAS
Fas cell surface death receptor
treatment
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:9466307 PMID:21880982 PMID:36999444
RGD:8686428
NCBI chr10:85,707,457...85,741,539
Ensembl chr10:89,217,949...89,243,612
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FBN1
fibrillin 1
ISO
mRNA, protein:increased expression:renal glomerulus (rat) mRNA:increased expression:renal cortex, renal glomerulus (rat)
RGD
PMID:16282705 PMID:16395273
RGD:7365077 RGD:7387262
NCBI chr15:27,358,780...27,593,539
Ensembl chr15:45,682,450...45,918,111
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FCGR2B
Fc gamma receptor IIb
ISO
RGD
PMID:19640933
RGD:5508403
NCBI chr 1:137,074,342...137,090,962
Ensembl chr 1:140,882,043...140,890,637
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FCGR3A
Fc gamma receptor IIIa
ISO
RGD
PMID:19050295
RGD:5508439
NCBI chr 1:137,027,943...137,036,738
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FN1
fibronectin 1
disease_progression
ISO
RGD
PMID:20484935
RGD:7206839
NCBI chr2B:102,623,568...102,698,747
Ensembl chr2B:221,208,431...221,284,003
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FOS
Fos proto-oncogene, AP-1 transcription factor subunit
treatment
ISO
RGD
PMID:11880336 PMID:31821871
RGD:405650596 RGD:7242278
NCBI chr14:55,832,570...55,835,984
Ensembl chr14:74,676,316...74,679,766
G
GAS6
growth arrest specific 6
ISO
RGD
PMID:11290560
RGD:1579882
Ensembl chr13:113,968,843...114,009,562
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GDNF
glial cell derived neurotrophic factor
treatment
ISO
RGD
PMID:22105543
RGD:405866361
NCBI chr 5:72,539,374...72,566,918
Ensembl chr 5:77,577,313...77,601,362
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GJA5
gap junction protein alpha 5
ISO
RGD
PMID:22945766
RGD:7207390
NCBI chr 1:123,200,111...123,224,626
Ensembl chr 1:112,328,337...112,329,413
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IFNG
interferon gamma
ISO
associated with kidney transplantation;mRNA:increased expression:kidney CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:1825860 PMID:21546865 PMID:22495297
RGD:6893377 RGD:6893462
NCBI chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829
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IL10
interleukin 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10910440
NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371
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IL18
interleukin 18
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:18462998
NCBI chr11:107,024,376...107,045,194
Ensembl chr11:110,867,586...110,888,371
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IL1A
interleukin 1 alpha
ISO
associated with Malaria
RGD
PMID:10469263
RGD:6907108
NCBI chr2A:89,273,482...89,284,421
Ensembl chr2A:113,784,854...113,795,801
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IL1B
interleukin 1 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9403216 PMID:10910440
NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424
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IL1R1
interleukin 1 receptor type 1
ISO
RGD
PMID:17500042
RGD:7207036
Ensembl chr2A:103,193,131...103,230,005
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IL1RN
interleukin 1 receptor antagonist
ISO
mouse model treated with human protein mRNA:increased expression:kidney (mouse)
RGD
PMID:21304992 PMID:22241891
RGD:6906885 RGD:6906960
NCBI chr2A:88,991,646...89,008,013
Ensembl chr2A:114,061,182...114,078,839
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IL2
interleukin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9403216 PMID:10910440
NCBI chr 4:114,637,328...114,642,586
Ensembl chr 4:125,782,563...125,787,984
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IL2RA
interleukin 2 receptor subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10910440
NCBI chr10:6,053,549...6,103,863
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IL6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9403216
NCBI chr 7:23,415,922...23,420,767
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INF2
inverted formin 2
ISO
ClinVar Annotator: match by term: Glomerulonephritis
ClinVar
PMID:25741868 PMID:28492532
NCBI chr14:85,339,478...85,366,336
Ensembl chr14:105,145,779...105,163,154
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ITGA3
integrin subunit alpha 3
ISO
protein:decreased expression:glomerulus (rat)
RGD
PMID:19662603
RGD:2325666
NCBI chr17:44,145,974...44,181,343
Ensembl chr17:49,019,892...49,055,245
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ITGAM
integrin subunit alpha M
ISO
RGD
PMID:19752320
RGD:6907051
NCBI chr16:23,634,476...23,707,147
Ensembl chr16:31,630,146...31,702,406
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ITGB1
integrin subunit beta 1
ISO
protein:decreased expression:glomerulus (rat)
RGD
PMID:19662603
RGD:2325666
NCBI chr10:33,023,573...33,081,384
Ensembl chr10:33,608,978...33,644,031
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ITGB2
integrin subunit beta 2
ISO
RGD
PMID:15277234 PMID:19752320
RGD:6907051 RGD:6907066
NCBI chr21:31,181,228...31,216,033
Ensembl chr21:44,470,999...44,505,963
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ITGB3
integrin subunit beta 3
ISO
RGD
PMID:8083378 PMID:11051455
RGD:6907411 RGD:6907420
NCBI chr17:10,134,450...10,194,596
Ensembl chr17:10,353,111...10,392,382
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JUND
JunD proto-oncogene, AP-1 transcription factor subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18443593
NCBI chr19:17,755,331...17,757,164
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KLKB1
kallikrein B1
ISO
protein:increased expression:plasma:
RGD
PMID:2173275
RGD:7327152
NCBI chr 4:178,398,359...178,429,448
Ensembl chr 4:190,604,901...190,636,300
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LAMB2
laminin subunit beta 2
ISO
ClinVar Annotator: match by term: Glomerulonephritis
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 3:49,045,419...49,057,340
Ensembl chr 3:50,125,460...50,137,074
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LTBP1
latent transforming growth factor beta binding protein 1
ISO
RGD
PMID:16282705
RGD:7387262
NCBI chr2A:32,956,937...33,409,286
Ensembl chr2A:33,667,191...34,120,602
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LTC4S
leukotriene C4 synthase
ISO
protein:altered activity:kidney, cortex (rat)
RGD
PMID:7827126
RGD:2316641
NCBI chr 5:174,946,346...174,950,805
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MAPK1
mitogen-activated protein kinase 1
ISO
RGD
PMID:20203158
RGD:7243972
NCBI chr22:3,883,119...3,990,368
Ensembl chr22:20,365,487...20,450,335
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MMP3
matrix metallopeptidase 3
ISO
RGD
PMID:15034162 PMID:23224597
RGD:7241253 RGD:8694105
NCBI chr11:97,776,729...97,784,549
Ensembl chr11:101,267,566...101,275,354
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MPO
myeloperoxidase
disease_progression
ISO
RGD
PMID:17267745 PMID:19238910
RGD:7174702 RGD:7174705
NCBI chr17:52,333,882...52,357,838
Ensembl chr17:57,201,073...57,212,111
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MS4A1
membrane spanning 4-domains A1
ISO
protein:increased expression:kidney, glomerulus (rat)
RGD
PMID:7538648
RGD:2316995
NCBI chr11:55,691,750...55,706,697
Ensembl chr11:59,134,617...59,149,521
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MTHFR
methylenetetrahydrofolate reductase
ISO
DNA:transition:cds:g.677C>T (human)
RGD
PMID:22111818
RGD:6893468
NCBI chr 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419
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MYH9
myosin heavy chain 9
ISO
ClinVar Annotator: match by term: Glomerulonephritis
ClinVar
PMID:25741868 PMID:28492532
NCBI chr22:17,200,623...17,305,826
Ensembl chr22:35,039,101...35,121,618
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NGF
nerve growth factor
ISO
CTD Direct Evidence: marker/mechanism protein:increased expression:serum
CTD RGD
PMID:19169037 PMID:24244623
RGD:7242783
NCBI chr 1:87,223,597...87,276,759
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NPPA
natriuretic peptide A
ISO
associated with Streptococcal Infections;protein:increased expression:plasma
RGD
PMID:12654066
RGD:7248663
NCBI chr 1:10,608,025...10,610,287
Ensembl chr 1:11,825,072...11,827,373
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PARP1
poly(ADP-ribose) polymerase 1
severity
ISO
RGD
PMID:19454727
RGD:5684011
NCBI chr 1:201,820,355...201,867,673
Ensembl chr 1:206,812,981...206,860,356
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PDGFB
platelet derived growth factor subunit B
treatment
ISO
RGD
PMID:11316849
RGD:10449490
NCBI chr22:20,127,223...20,148,407
Ensembl chr22:37,944,018...37,964,883
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PDGFD
platelet derived growth factor D
ISO
RGD
PMID:21866094
RGD:9854633
NCBI chr11:98,852,652...99,110,147
Ensembl chr11:102,357,079...102,593,273
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PLA2G7
phospholipase A2 group VII
ISO
RGD
PMID:8730430
RGD:7248794
NCBI chr 6:46,264,262...46,318,487
Ensembl chr 6:47,558,861...47,590,212
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PLCE1
phospholipase C epsilon 1
ISO
ClinVar Annotator: match by term: Glomerulonephritis
ClinVar
PMID:25741868
NCBI chr10:90,731,695...91,065,846
Ensembl chr10:94,278,550...94,575,024
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POMC
proopiomelanocortin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:4368615 PMID:6300362
NCBI chr2A:25,161,668...25,165,600
Ensembl chr2A:25,258,768...25,262,706
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PPARG
peroxisome proliferator activated receptor gamma
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:11318962
NCBI chr 3:12,215,322...12,361,669
Ensembl chr 3:12,622,397...12,705,060
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PRF1
perforin 1
ISO
RGD
PMID:17622272
RGD:6482824
NCBI chr10:67,071,141...67,078,057
Ensembl chr10:69,597,574...69,603,070
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PTAFR
platelet activating factor receptor
treatment
ISO
RGD
PMID:1668710
RGD:10041057
NCBI chr 1:27,405,880...27,436,184
Ensembl chr 1:28,447,833...28,448,861
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PTK2B
protein tyrosine kinase 2 beta
ISO
protein:increased expression:glomerulus
RGD
PMID:11774117
RGD:729912
NCBI chr 8:26,580,855...26,729,378
Ensembl chr 8:23,869,825...23,932,474
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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 chr11:57,774,560...57,780,334
Ensembl chr11:61,133,649...61,137,873
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SERPINE1
serpin family E member 1
treatment
ISO
RGD
PMID:12897205
RGD:13208810
NCBI chr 7:93,267,517...93,279,728
Ensembl chr 7:106,510,130...106,518,450
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SMAD1
SMAD family member 1
ISO
protein:increased phosphorylation:glomerulus
RGD
PMID:15591053
RGD:1643235
NCBI chr 4:137,822,269...137,899,700
Ensembl chr 4:149,481,836...149,558,135
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SPP1
secreted phosphoprotein 1
disease_progression
ISO
RGD
PMID:20720406
RGD:6903272
NCBI chr 4:80,263,711...80,271,466
Ensembl chr 4:90,988,200...90,995,935
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TBXAS1
thromboxane A synthase 1
ISO
RGD
PMID:10560941
RGD:1601461
NCBI chr 7:131,772,947...131,958,647
Ensembl chr 7:144,255,211...144,439,523
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TF
transferrin
severity
ISO
RGD
PMID:22607047
RGD:7244194
NCBI chr 3:130,799,063...130,830,227
Ensembl chr 3:138,274,159...138,305,476
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TLR2
toll like receptor 2
ISO
RGD
PMID:16849506
RGD:7241071
NCBI chr 4:146,024,653...146,091,388
Ensembl chr 4:157,866,977...157,869,331
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TLR4
toll like receptor 4
ISO
RGD
PMID:16849506 PMID:20844472
RGD:4144104 RGD:7241071
NCBI chr 9:88,827,495...88,840,458
Ensembl chr 9:117,180,550...117,190,711
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TNF
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9403216 PMID:10910440
NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
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TNFRSF1A
TNF receptor superfamily member 1A
treatment disease_progression
ISO
protein:increased expression:urine
RGD
PMID:20525973 PMID:23400706
RGD:7245516 RGD:7245540
NCBI chr12:6,457,617...6,470,969
Ensembl chr12:6,374,257...6,387,613
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TNFRSF1B
TNF receptor superfamily member 1B
treatment
ISO
RGD
PMID:15841213 PMID:22449555 PMID:23400706
RGD:7245530 RGD:7245540 RGD:7245546
NCBI chr 1:10,915,743...10,957,765
Ensembl chr 1:12,130,663...12,172,646
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TPO
thyroid peroxidase
ISO
RGD
PMID:8393543
RGD:7207483
NCBI chr2A:1,364,083...1,491,284
Ensembl chr2A:1,335,556...1,493,055
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VCAM1
vascular cell adhesion molecule 1
ISO
protein:increased expression:kidney
RGD
PMID:18574676
RGD:7241215
NCBI chr 1:103,377,815...103,395,118
Ensembl chr 1:102,091,336...102,107,732
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VEGFA
vascular endothelial growth factor A
treatment
ISO
RGD
PMID:15195119
RGD:7421594
NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353
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WT1
WT1 transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20962747
NCBI chr11:32,349,807...32,398,494
Ensembl chr11:32,238,720...32,287,249
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AGT
angiotensinogen
ISO
protein:increased expression:kidney, urine mRNA, protein:increased expression:liver, plasma
RGD
PMID:7550093 PMID:21282555
RGD:11039051 RGD:5129185
NCBI chr 1:206,252,141...206,263,830
Ensembl chr 1:211,279,015...211,291,044
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AGTR1
angiotensin II receptor type 1
ISO
protein:increased expression:kidney
RGD
PMID:21282555
RGD:5129185
NCBI chr 3:145,722,475...145,767,550
Ensembl chr 3:153,341,947...153,345,380
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BAX
BCL2 associated X, apoptosis regulator
ISO
mRNA, protein:increased expression:kidney
RGD
PMID:12234300
RGD:1579984
NCBI chr19:45,955,926...45,962,870
Ensembl chr19:54,793,594...54,800,468
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BCL2
BCL2 apoptosis regulator
ISO
mRNA, protein:decreased expression:kidney
RGD
PMID:12234300
RGD:1579984
NCBI chr18:56,481,212...56,679,012
Ensembl chr18:59,802,443...59,992,100
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CCL17
C-C motif chemokine ligand 17
ISO
mRNA:increased expression:glomerulus
RGD
PMID:20071465
RGD:4145614
NCBI chr16:37,678,518...37,689,350
Ensembl chr16:56,819,949...56,822,131
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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 chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384
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CCL22
C-C motif chemokine ligand 22
ISO
mRNA, protein:increased expression:glomerulus
RGD
PMID:12651599
RGD:2306306
NCBI chr16:37,631,861...37,640,208
Ensembl chr16:56,765,367...56,771,213
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CCL5
C-C motif chemokine ligand 5
ISO
mRNA:increased expression:glomerulus
RGD
PMID:17898087
RGD:2307059
NCBI chr17:20,915,198...20,923,530
Ensembl chr17:21,210,798...21,219,172
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CD274
CD274 molecule
treatment
ISO
RGD
PMID:21965585
RGD:7248671
NCBI chr 9:5,269,270...5,289,629
Ensembl chr 9:5,454,391...5,474,402
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CD40
CD40 molecule
ISO
RGD
PMID:15210767
RGD:7248442
NCBI chr20:42,455,711...42,467,139
Ensembl chr20:43,541,619...43,552,994
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CD40LG
CD40 ligand
ISO
RGD
PMID:15458437
RGD:5508170
NCBI chr X:125,776,138...125,788,820
Ensembl chr X:136,042,849...136,058,202
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CD80
CD80 molecule
ISO
RGD
PMID:10712436
RGD:6902936
NCBI chr 3:116,646,590...116,683,725
Ensembl chr 3:123,559,559...123,594,870
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CFB
complement factor B
ISO
RGD
PMID:22492944
RGD:7242700
NCBI chr 6:31,606,716...31,612,782
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CLU
clusterin
ISO
protein:increased expression:urine
RGD
PMID:23791361
RGD:9068422
NCBI chr 8:26,867,973...26,884,838
Ensembl chr 8:24,070,053...24,083,523
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CSF1
colony stimulating factor 1
treatment
ISO
RGD
PMID:19242505
RGD:7257569
NCBI chr 1:112,555,755...112,575,894
Ensembl chr 1:127,764,916...127,781,943
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CSF1R
colony stimulating factor 1 receptor
treatment ameliorates
ISO
RGD
PMID:19242505 PMID:21519331
RGD:151665824 RGD:7257569
NCBI chr 5:145,478,725...145,537,858
Ensembl chr 5:151,483,572...151,517,415
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CTLA4
cytotoxic T-lymphocyte associated protein 4
treatment
ISO
RGD
PMID:8206086 PMID:10712436
RGD:11352257 RGD:6902936
NCBI chr2B:91,054,917...91,106,234
Ensembl chr2B:209,239,417...209,244,498
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CX3CL1
C-X3-C motif chemokine ligand 1
ISO
mRNA, protein:increased expression:glomerulus
RGD
PMID:19590241
RGD:4891946
NCBI chr16:37,646,447...37,659,078
Ensembl chr16:56,779,065...56,791,760
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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 3:39,158,346...39,176,604
Ensembl chr 3:39,440,955...39,457,219
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CXCL12
C-X-C motif chemokine ligand 12
ISO
mRNA:increased expression:glomerulus
RGD
PMID:17557270
RGD:2306579
NCBI chr10:41,296,975...41,384,864
Ensembl chr10:44,552,480...44,564,231
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DUSP1
dual specificity phosphatase 1
ISO
mRNA:increased expression:glomerulus
RGD
PMID:8587253
RGD:633769
NCBI chr 5:168,121,536...168,124,671
Ensembl chr 5:175,032,803...175,035,960
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FCGR3A
Fc gamma receptor IIIa
no_association
ISO
DNA:polymorphism:exon:(rs396991)(human) DNA:cnv: :
RGD
PMID:19640933 PMID:19946017
RGD:5508400 RGD:5508403
NCBI chr 1:137,027,943...137,036,738
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GP6
glycoprotein VI platelet
ISO
RGD
PMID:20651232
RGD:7242710
NCBI chr19:52,051,138...52,071,673
Ensembl chr19:60,746,578...60,770,643
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IL10
interleukin 10
treatment
ISO
RGD
PMID:23826305
RGD:7365004
NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371
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IL17A
interleukin 17A
treatment
ISO
RGD
PMID:23826305
RGD:7365004
NCBI chr 6:51,736,269...51,740,538
Ensembl chr 6:53,004,820...53,009,074
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IL18
interleukin 18
ISO
RGD
PMID:22046355
RGD:6893447
NCBI chr11:107,024,376...107,045,194
Ensembl chr11:110,867,586...110,888,371
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IL1B
interleukin 1 beta
ISO
mRNA, protein:increased expression:kidney mRNA:increased expression:kidney (mouse)
RGD
PMID:9198037 PMID:22046355
RGD:6893447 RGD:7401232
NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424
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IL1RN
interleukin 1 receptor antagonist
ISO
RGD
PMID:20071465
RGD:4145614
NCBI chr2A:88,991,646...89,008,013
Ensembl chr2A:114,061,182...114,078,839
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IL4
interleukin 4
ISO
RGD
PMID:9350645 PMID:17898087
RGD:2307059 RGD:2317673
NCBI chr 5:128,091,342...128,099,886
Ensembl chr 5:134,253,039...134,261,581
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ITGA4
integrin subunit alpha 4
treatment
ISO
RGD
PMID:7679412 PMID:9032136
RGD:2308810 RGD:9698425
NCBI chr2B:68,719,376...68,802,488
Ensembl chr2B:186,530,187...186,612,203
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LOC100978961
lymphotactin
ISO
mRNA:increased expression:glomerulus
RGD
PMID:9717977
RGD:8693304
NCBI chr 1:143,837,578...144,068,261
Ensembl chr 1:147,785,654...147,790,587
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LOC100995226
HLA class II histocompatibility antigen, DP beta 1 chain
ISO
RGD
PMID:21569485
RGD:5147561
NCBI chr 6:32,648,780...32,659,613
Ensembl chr 6:33,763,566...33,774,387
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MAPK14
mitogen-activated protein kinase 14
ISO
RGD
PMID:21894146
RGD:6218988
NCBI chr 6:35,586,847...35,683,041
Ensembl chr 6:36,788,233...36,871,114
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MAPK8
mitogen-activated protein kinase 8
ISO
RGD
PMID:21894146
RGD:6218988
NCBI chr10:45,806,748...45,936,362
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MIF
macrophage migration inhibitory factor
ISO
RGD
PMID:10780884
RGD:1642011
NCBI chr22:4,646,986...4,647,831
Ensembl chr22:22,730,807...22,732,009
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MMP12
matrix metallopeptidase 12
ISO
RGD
PMID:21894146
RGD:6218988
NCBI chr11:97,809,644...97,822,063
Ensembl chr11:101,294,475...101,306,762
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MMP14
matrix metallopeptidase 14
ISO
mRNA:increased expression:kidney, macrophage
RGD
PMID:10878552
RGD:2314954
NCBI chr14:3,654,125...3,665,158
Ensembl chr14:21,753,305...21,764,058
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NOS2
nitric oxide synthase 2
ISO
RGD
PMID:21894146
RGD:6218988
NCBI chr17:28,984,295...29,021,516
Ensembl chr17:29,471,510...29,617,093
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NPPB
natriuretic peptide B
ISO
RGD
PMID:11729234
RGD:7248605
NCBI chr 1:10,621,416...10,622,960
Ensembl chr 1:11,838,518...11,839,995
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PDCD1
programmed cell death 1
treatment
ISO
RGD
PMID:21965585
RGD:7248671
NCBI chr12:130,849,353...130,858,776
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PF4
platelet factor 4
treatment
ISO
RGD
PMID:7573480
RGD:329901920
NCBI chr 4:50,208,806...50,210,570
Ensembl chr 4:56,041,833...56,043,750
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PPARA
peroxisome proliferator activated receptor alpha
ISO
RGD
PMID:17888025
RGD:5563035
Ensembl chr22:45,218,364...45,302,970
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PTK2B
protein tyrosine kinase 2 beta
ISO
protein:increased expression:glomerulus
RGD
PMID:11774117
RGD:729912
NCBI chr 8:26,580,855...26,729,378
Ensembl chr 8:23,869,825...23,932,474
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RAPGEF1
Rap guanine nucleotide exchange factor 1
ISO
protein:increased expression:renal glomerulus
RGD
PMID:18784646
RGD:11534983
NCBI chr 9:102,698,970...102,861,482
Ensembl chr 9:131,337,001...131,495,664
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SELP
selectin P
ISO
RGD
PMID:21894146
RGD:6218988
NCBI chr 1:145,071,094...145,112,851
Ensembl chr 1:148,793,677...148,834,701
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SLC34A1
solute carrier family 34 member 1
ISO
protein:decreased expression:kidney, brush border membrane (mouse)
RGD
PMID:19193726
RGD:7242947
NCBI chr 5:172,685,862...172,700,440
Ensembl chr 5:179,748,492...179,762,975
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SLIT2
slit guidance ligand 2
ISO
mRNA:decreased expression:kidney, glomerulus
RGD
PMID:15215188
RGD:2316132
NCBI chr 4:14,654,448...15,023,708
Ensembl chr 4:20,158,952...20,314,656
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SPP1
secreted phosphoprotein 1
ISO
RGD
PMID:20504883
RGD:6903276
NCBI chr 4:80,263,711...80,271,466
Ensembl chr 4:90,988,200...90,995,935
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SYK
spleen associated tyrosine kinase
ISO
RGD
PMID:21894146
RGD:6218988
NCBI chr 9:61,859,767...61,956,619
Ensembl chr 9:89,959,599...90,056,101
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TNF
tumor necrosis factor
ISO
RGD
PMID:21894146
RGD:6218988
NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
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VCAM1
vascular cell adhesion molecule 1
ISO
protein:increased expression:urine, serum:
RGD
PMID:23460853
RGD:7241232
NCBI chr 1:103,377,815...103,395,118
Ensembl chr 1:102,091,336...102,107,732
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C1QA
complement C1q A chain
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 1:21,821,927...21,825,020
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C1QB
complement C1q B chain
ISO
ClinVar Annotator: match by term: C1Q deficiency
ClinVar
PMID:17513176 PMID:21654842 PMID:25741868 PMID:28492532
NCBI chr 1:21,838,514...21,846,855
Ensembl chr 1:22,786,685...22,797,581
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C1QC
complement C1q 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 1:21,828,969...21,833,518
Ensembl chr 1:22,770,582...22,782,176
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C1QA
complement C1q A chain
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 1:21,821,927...21,825,020
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C1QB
complement C1q B chain
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 1:21,838,514...21,846,855
Ensembl chr 1:22,786,685...22,797,581
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C1QC
complement C1q 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 1:21,828,969...21,833,518
Ensembl chr 1:22,770,582...22,782,176
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CFH
complement 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 1:172,155,882...172,251,632
Ensembl chr 1:176,455,247...176,525,521
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CFHR5
complement factor H related 5
ISO
ClinVar Annotator: match by term: C3 glomerulonephritis | ClinVar Annotator: match by term: CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II | ClinVar Annotator: match by term: CFHR5 deficiency
OMIM ClinVar
PMID:16299065 PMID:17000000 PMID:19365580 PMID:20513133 PMID:20800271 PMID:22503529 PMID:22527104 PMID:22622361 PMID:24033266 PMID:25260719 PMID:25741868 PMID:26825529 PMID:27064621 PMID:28054583 PMID:28492532 PMID:28750028 PMID:29148534 PMID:30225434 PMID:30295827 PMID:31664448 PMID:31848144 PMID:32723786 PMID:32928961 PMID:33213850 PMID:33367879 PMID:34238373 More...
NCBI chr 1:172,541,948...172,574,591
Ensembl chr 1:176,876,635...176,908,723
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CX3CL1
C-X3-C motif chemokine ligand 1
ISO
RGD
PMID:12028445
RGD:9491783
NCBI chr16:37,646,447...37,659,078
Ensembl chr16:56,779,065...56,791,760
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CX3CR1
C-X3-C motif chemokine receptor 1
ISO
RGD
PMID:12028445
RGD:9491783
NCBI chr 3:39,158,346...39,176,604
Ensembl chr 3:39,440,955...39,457,219
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CCL2
C-C motif chemokine ligand 2
treatment
ISO
RGD
PMID:8903512 PMID:17314328
RGD:8549743 RGD:8549770
NCBI chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384
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CD40
CD40 molecule
ISO
RGD
PMID:14569091
RGD:7248599
NCBI chr20:42,455,711...42,467,139
Ensembl chr20:43,541,619...43,552,994
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CD40LG
CD40 ligand
treatment
ISO
RGD
PMID:14569091
RGD:7248599
NCBI chr X:125,776,138...125,788,820
Ensembl chr X:136,042,849...136,058,202
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CSF1R
colony stimulating factor 1 receptor
treatment
ISO
RGD
PMID:23408165
RGD:151665815
NCBI chr 5:145,478,725...145,537,858
Ensembl chr 5:151,483,572...151,517,415
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IL1B
interleukin 1 beta
ISO
RGD
PMID:19959716
RGD:7175502
NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424
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IL1RN
interleukin 1 receptor antagonist
treatment
ISO
human protein in a rat model
RGD
PMID:7637259
RGD:8551712
NCBI chr2A:88,991,646...89,008,013
Ensembl chr2A:114,061,182...114,078,839
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JUND
JunD proto-oncogene, AP-1 transcription factor subunit
ISO
RGD
PMID:18443593
RGD:2293336
NCBI chr19:17,755,331...17,757,164
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LOC100991644
low affinity immunoglobulin gamma Fc region receptor II-a
ISO
DNA:CNV:3'UTR:
RGD
PMID:16482158
RGD:2293335
NCBI chr 1:136,892,311...136,906,450
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MMP12
matrix metallopeptidase 12
ISO
RGD
PMID:12626598 PMID:20488952
RGD:2325762 RGD:737630
NCBI chr11:97,809,644...97,822,063
Ensembl chr11:101,294,475...101,306,762
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MMP3
matrix metallopeptidase 3
ISO
RGD
PMID:11095647
RGD:7241255
NCBI chr11:97,776,729...97,784,549
Ensembl chr11:101,267,566...101,275,354
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MMP9
matrix metallopeptidase 9
ISO
protein:increased expression:renal cortex (rat)
RGD
PMID:16046515
RGD:2313720
NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129
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MTOR
mechanistic target of rapamycin kinase
ISO
RGD
PMID:21403644
RGD:7245940
NCBI chr 1:9,871,700...10,028,704
Ensembl chr 1:11,093,765...11,249,841
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STAT6
signal transducer and activator of transcription 6
ISO
RGD
PMID:21985369
RGD:7243976
Ensembl chr12:32,068,679...32,085,099
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ACE2
angiotensin converting enzyme 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16723697
NCBI chr X:8,189,267...8,229,415
Ensembl chr X:15,470,896...15,510,891
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ACTA2
actin alpha 2, smooth muscle
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20493835
NCBI chr10:85,660,983...85,678,729
Ensembl chr10:89,164,344...89,182,080
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ACTN4
actinin alpha 4
susceptibility
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal
RGD ClinVar
PMID:10700177 PMID:16251236 PMID:18594871 PMID:19142020 PMID:19956976 PMID:21680739 PMID:22732337 PMID:23890478 PMID:24130771 PMID:25741868 PMID:26248470 PMID:26346198 PMID:26467025 PMID:27535533 PMID:28492532 PMID:29869118 PMID:31027891 PMID:31930129 More...
RGD:1598731
NCBI chr19:35,742,758...35,825,321
Ensembl chr19:44,313,569...44,395,508
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ACTR3
actin related protein 3
ISO
protein:increased expression:renal glomerulus (rat) DNA:missense mutation:cds:p.L111F (rat)
RGD
PMID:18064521 PMID:27251563
RGD:11575049 RGD:2292230
NCBI chr2B:827,184...900,424
Ensembl chr2B:114,373,392...114,445,729
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AGT
angiotensinogen
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:19858406 PMID:21357516
RGD:5129175
NCBI chr 1:206,252,141...206,263,830
Ensembl chr 1:211,279,015...211,291,044
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AGTR1
angiotensin II receptor type 1
ISO
protein:increased expression:kidney cortex
RGD
PMID:21357516
RGD:5129175
NCBI chr 3:145,722,475...145,767,550
Ensembl chr 3:153,341,947...153,345,380
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AGTR2
angiotensin II receptor type 2
ISO
protein:increased expression:kidney cortex
RGD
PMID:21357516
RGD:5129175
NCBI chr X:105,252,903...105,257,171
Ensembl chr X:115,671,594...115,672,685
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ANGPT2
angiopoietin 2
ISO
mRNA, protein:increased expression:glomerulus (rat)
RGD
PMID:16628643
RGD:2314213
NCBI chr 8:718,367...782,534
Ensembl chr 8:6,506,014...6,566,915
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ANLN
anillin, actin binding protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 7:37,011,518...37,075,349
Ensembl chr 7:37,243,917...37,304,137
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ARHGAP24
Rho GTPase activating protein 24
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
ClinVar
NCBI chr 4:77,788,074...78,316,357
Ensembl chr 4:88,619,296...89,045,861
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AXDND1
axonemal dynein light chain domain containing 1
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar 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 1:154,847,978...155,043,339
Ensembl chr 1:158,536,967...158,724,251
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BDKRB1
bradykinin receptor B1
ISO
RGD
PMID:21412216
RGD:7175321
NCBI chr14:76,885,923...76,894,456
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C2
complement C2
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
ClinVar
PMID:2249879 PMID:6308626 PMID:8181962 PMID:16518403 PMID:16936732 PMID:18806293 PMID:21541267 PMID:24033266 PMID:25741868 PMID:28492532 More...
NCBI chr 6:31,590,135...31,606,368
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C3
complement C3
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
ClinVar
PMID:1976733 PMID:7870343 PMID:16687714 PMID:17634448 PMID:17767156 PMID:18325906 PMID:19168221 PMID:19259132 PMID:20664795 PMID:21576320 PMID:22718507 PMID:23112567 PMID:23455636 PMID:25741868 PMID:28492532 More...
NCBI chr19:5,708,211...5,753,178
Ensembl chr19:6,629,287...6,674,699
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CASP9
caspase 9
treatment
ISO
RGD
PMID:28245472
RGD:13782344
NCBI chr 1:14,630,659...14,662,865
Ensembl chr 1:15,624,666...15,656,266
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CAT
catalase
ISO
RGD
PMID:22443450
RGD:7205647
NCBI chr11:34,413,253...34,446,831
Ensembl chr11:34,289,603...34,323,160
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CCN2
cellular communication network factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17121042
NCBI chr 6:129,729,572...129,733,113
Ensembl chr 6:133,836,319...133,842,077
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CD2AP
CD2 associated protein
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 6:47,065,284...47,210,746
Ensembl chr 6:48,328,863...48,474,163
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CFB
complement factor B
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
ClinVar
PMID:2249879 PMID:6308626 PMID:8181962 PMID:16518403 PMID:16936732 PMID:18806293 PMID:21541267 PMID:24033266 PMID:25741868 PMID:28492532 More...
NCBI chr 6:31,606,716...31,612,782
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CFH
complement factor H
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
ClinVar
PMID:8072530 PMID:15870199 PMID:16299065 PMID:17089378 PMID:17947292 PMID:18252712 PMID:19259132 PMID:21909106 PMID:25741868 PMID:28492532 PMID:34189567 PMID:35925583 More...
NCBI chr 1:172,155,882...172,251,632
Ensembl chr 1:176,455,247...176,525,521
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CFI
complement factor I
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
ClinVar
PMID:18825487 PMID:25741868 PMID:28492532
NCBI chr 4:102,236,868...102,311,359
Ensembl chr 4:112,804,645...112,865,581
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CMAS
cytidine monophosphate N-acetylneuraminic acid synthetase
ISO
MouseDO
NCBI chr12:64,234,241...64,253,306
Ensembl chr12:66,838,670...66,857,774
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COL4A1
collagen type IV alpha 1 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16191423 PMID:18682491
NCBI chr13:91,282,617...91,440,187
Ensembl chr13:110,407,009...110,562,529
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COL4A3
collagen type IV alpha 3 chain
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
ClinVar
PMID:14871398 PMID:17216251 PMID:18385178 PMID:24033266 PMID:24854265 PMID:25741868 PMID:26346198 PMID:26467025 PMID:28492532 PMID:29924831 PMID:30245029 More...
NCBI chr2B:114,410,703...114,559,336
Ensembl chr2B:233,294,783...233,371,021
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COL4A4
collagen type IV alpha 4 chain
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
ClinVar
PMID:12028435 PMID:15618242 PMID:17396119 PMID:19129241 PMID:20029656 PMID:21196518 PMID:24033266 PMID:24052634 PMID:24522496 PMID:24854265 PMID:25307543 PMID:25514610 PMID:25741868 PMID:26467025 PMID:26809805 PMID:27281700 PMID:28492532 PMID:31049720 PMID:31922066 More...
NCBI chr2B:114,227,135...114,410,564
Ensembl chr2B:233,065,678...233,205,892
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COL4A5
collagen type IV alpha 5 chain
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
ClinVar
PMID:8648925 PMID:9195222 PMID:10561141 PMID:10752524 PMID:14514738 PMID:14993485 PMID:15780079 PMID:21505094 PMID:24033266 PMID:24854265 PMID:25741868 PMID:26809805 PMID:27281700 PMID:28492532 PMID:28844315 More...
NCBI chr X:97,538,978...97,797,019
Ensembl chr X:108,008,689...108,166,095
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COQ2
coenzyme Q2, polyprenyltransferase
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
ClinVar
PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr 4:40,913,015...40,934,594
Ensembl chr 4:46,762,659...46,784,014
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COQ8B
coenzyme Q8B
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
ClinVar
PMID:25741868 PMID:32543055
NCBI chr19:37,735,725...37,761,160
Ensembl chr19:46,242,576...46,267,503
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CRB2
crumbs cell polarity complex component 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 9:94,473,423...94,511,285
Ensembl chr 9:123,011,968...123,032,855
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CUBN
cubilin
ISO
ClinVar Annotator: match by term: Glomerulosclerosis, focal
ClinVar
PMID:25741868 PMID:28492532
NCBI chr10:17,141,464...17,446,867
Ensembl chr10:17,415,551...17,719,129
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EDN1
endothelin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16191423
NCBI chr 6:12,076,312...12,142,861
Ensembl chr 6:12,462,718...12,503,545
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EYA1
EYA transcriptional coactivator and phosphatase 1
ISO
ClinVar Annotator: match by term: Glomerulosclerosis, focal
ClinVar
PMID:10991693 PMID:24033266 PMID:25741868 PMID:31049720
NCBI chr 8:67,728,057...68,060,069
Ensembl chr 8:69,387,769...69,551,829
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FN1
fibronectin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16191423
NCBI chr2B:102,623,568...102,698,747
Ensembl chr2B:221,208,431...221,284,003
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HAVCR1
hepatitis A virus cellular receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19225054
NCBI chr 5:152,429,337...152,459,800
Ensembl chr 5:158,413,073...158,442,481
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HR
HR lysine demethylase and nuclear receptor corepressor
ISO
RGD
PMID:21325752
RGD:150520024
NCBI chr 8:21,359,348...21,378,315
Ensembl chr 8:18,298,709...18,316,151
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HSPB1
heat shock protein family B (small) member 1
ISO
protein:increased expression:glomerulus, podocyte:
RGD
PMID:21931298
RGD:10402764
NCBI chr 7:67,716,021...67,717,762
Ensembl chr 7:82,751,523...82,752,984
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IL1B
interleukin 1 beta
ISO
RGD
PMID:21412216
RGD:7175321
NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424
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INF2
inverted formin 2
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal
ClinVar
PMID:21866090 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30655312 PMID:32451589 More...
NCBI chr14:85,339,478...85,366,336
Ensembl chr14:105,145,779...105,163,154
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ITGB3
integrin subunit beta 3
ISO
RGD
PMID:21804539
RGD:6907385
NCBI chr17:10,134,450...10,194,596
Ensembl chr17:10,353,111...10,392,382
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ITGB4
integrin subunit beta 4
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
ClinVar
PMID:25741868
NCBI chr17:69,671,252...69,708,520
Ensembl chr17:75,222,376...75,259,401
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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 chr19:32,769,592...32,785,045
Ensembl chr19:41,518,306...41,533,467
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LAMB2
laminin subunit beta 2
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal
ClinVar
PMID:20556798 PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr 3:49,045,419...49,057,340
Ensembl chr 3:50,125,460...50,137,074
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LIPC
lipase C, hepatic type
ISO
protein:reduced expression:serum (rat)
RGD
PMID:14531811
RGD:2308781
NCBI chr15:37,363,507...37,537,723
Ensembl chr15:55,814,017...55,847,005
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LMX1B
LIM homeobox transcription factor 1 beta
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 9:97,730,850...97,820,554
Ensembl chr 9:126,240,722...126,322,420
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LOC100978865
nuclear RNA export factor 2
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
ClinVar
PMID:23686279
NCBI chr X:91,029,232...91,040,710
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LOC100986730
guanine nucleotide-binding protein G(q) subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16267159
NCBI chr 9:46,816,409...47,129,116
Ensembl chr 9:76,575,815...76,773,849
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LPL
lipoprotein lipase
ISO
RGD
PMID:14531811
RGD:2308781
NCBI chr 8:19,164,541...19,193,100
Ensembl chr 8:16,113,415...16,142,966
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MED28
mediator complex subunit 28
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
ClinVar
PMID:25741868
NCBI chr 4:12,035,441...12,051,718
Ensembl chr 4:17,328,975...17,348,546
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MMP2
matrix metallopeptidase 2
ISO
mRNA, protein:increased expression, increased activity:kidney
RGD
PMID:19357873
RGD:2325738
NCBI chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279
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MMP9
matrix metallopeptidase 9
ISO
mRNA, protein:increased expression, increased activity:kidney
RGD
PMID:19357873
RGD:2325738
NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129
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MPV17
mitochondrial inner membrane protein MPV17
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18818194
NCBI chr2A:27,311,551...27,325,249
Ensembl chr2A:27,399,258...27,414,090
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MYH10
myosin heavy chain 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9678433
NCBI chr17:43,023,922...43,180,159
Ensembl chr17:47,761,322...47,911,192
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MYH9
myosin heavy chain 9
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
ClinVar
PMID:19557653 PMID:23144074 PMID:24033266 PMID:25741868 PMID:26346198 PMID:26467025 PMID:26969326 PMID:27068579 PMID:28492532 More...
NCBI chr22:17,200,623...17,305,826
Ensembl chr22:35,039,101...35,121,618
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MYO1E
myosin IE
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr15:38,106,599...38,343,040
Ensembl chr15:56,413,570...56,649,722
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MYO9A
myosin IXA
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal
ClinVar
PMID:25741868 PMID:33412162
NCBI chr15:50,771,747...51,069,700
Ensembl chr15:69,541,318...69,760,771
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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 chr 1:223,052,307...223,084,736
Ensembl chr 1:228,505,147...228,537,216
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NOC3L
NOC3 like DNA replication regulator
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
ClinVar
PMID:25741868
NCBI chr10:91,052,341...91,101,068
Ensembl chr10:94,579,840...94,609,405
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NOS2
nitric oxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16191423
NCBI chr17:28,984,295...29,021,516
Ensembl chr17:29,471,510...29,617,093
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NPHP1
nephrocystin 1
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
ClinVar
PMID:25741868 PMID:28492532
NCBI chr2A:91,520,612...91,602,187
Ensembl chr2A:111,625,267...111,706,205
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NPHP3
nephrocystin 3
ISO
ClinVar Annotator: match by term: Glomerulosclerosis, focal
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 3:129,753,399...129,795,300
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NPHP4
nephrocystin 4
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:4,620,593...4,756,363
Ensembl chr 1:5,878,739...6,012,864
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NPHS1
NPHS1 adhesion molecule, nephrin
disease_progression
ISO
mRNA:increased expression:urine (human) protein:decreased expression:kidney,renal glomerulus (human)
RGD
PMID:21414970 PMID:30900988
RGD:15023481 RGD:38549367
NCBI chr19:32,742,802...32,770,600
Ensembl chr19:41,492,444...41,518,471
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NPHS2
NPHS2 stomatin family member, podocin
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal
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:15954915 PMID:15968559 PMID:16286890 PMID:16291839 PMID:16481888 PMID:16810518 PMID:16900088 PMID:17109732 PMID:17371932 PMID:17899208 PMID:17942957 PMID:18216321 PMID:18499321 PMID:18683072 PMID:18823551 PMID:19145239 PMID:19268410 PMID:19406966 PMID:19520069 PMID:19812541 PMID:20333530 PMID:20798252 PMID:20947785 PMID:21355056 PMID:21415313 PMID:21636722 PMID:21722858 PMID:22228437 PMID:22578956 PMID:23242530 PMID:23349334 PMID:23515051 PMID:23595123 PMID:23645318 PMID:23800802 PMID:24072147 PMID:24227627 PMID:24509478 PMID:24715228 PMID:24742477 PMID:24969201 PMID:25349199 PMID:25525159 PMID:25599733 PMID:25741868 PMID:26138234 PMID:26211502 PMID:26413278 PMID:26420286 PMID:26467025 PMID:26467726 PMID:27885584 PMID:28492532 PMID:28529802 PMID:28658201 PMID:28712774 PMID:28780565 PMID:29869118 PMID:30241959 PMID:30260545 PMID:30348286 PMID:30655312 PMID:31027891 PMID:31738409 PMID:32129207 PMID:32467597 PMID:32581362 PMID:33193607 PMID:33532864 PMID:34405919 PMID:34853150 More...
NCBI chr 1:155,038,753...155,064,332
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NUP93
nucleoporin 93
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
ClinVar
PMID:32581362
NCBI chr16:37,007,481...37,122,785
Ensembl chr16:56,140,546...56,255,561
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PAX2
paired box 2
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal
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 chr10:97,344,978...97,429,086
Ensembl chr10:100,822,676...100,904,028
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PCNA
proliferating cell nuclear antigen
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17121042
NCBI chr20:5,134,930...5,146,603
Ensembl chr20:4,927,731...4,939,440
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PDSS2
decaprenyl diphosphate synthase subunit 2
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 6:104,963,942...105,272,807
Ensembl chr 6:108,833,223...109,137,055
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PIAS1
protein inhibitor of activated STAT 1
ISO
RGD
PMID:19350281
RGD:8693412
NCBI chr15:47,006,718...47,141,035
Ensembl chr15:65,276,530...65,410,105
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PLCE1
phospholipase C epsilon 1
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal
ClinVar
PMID:18975016 PMID:20507940 PMID:25060053 PMID:25741868 PMID:26467025 PMID:28492532 More...
NCBI chr10:90,731,695...91,065,846
Ensembl chr10:94,278,550...94,575,024
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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 chr16:7,731,266...7,782,871
Ensembl chr16:8,971,692...9,020,406
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PPP3CA
protein phosphatase 3 catalytic subunit alpha
ISO
RGD
PMID:26436650
RGD:13515117
NCBI chr 4:93,447,095...93,770,339
Ensembl chr 4:104,113,520...104,435,394
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PPP3CB
protein phosphatase 3 catalytic subunit beta
ISO
RGD
PMID:26436650
RGD:13515117
NCBI chr10:69,984,241...70,043,352
Ensembl chr10:72,443,051...72,501,752
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PSAP
prosaposin
ISO
ClinVar Annotator: match by term: Hyalinosis, Segmental Glomerular
ClinVar
PMID:24033266 PMID:25741868 PMID:28492532 PMID:30976395 PMID:35456468
NCBI chr10:68,286,359...68,321,349
Ensembl chr10:70,810,881...70,828,781
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RAP1GAP
RAP1 GTPase activating protein
ISO
mRNA:increased expression:renal glomerulus (human)
RGD
PMID:24642466
RGD:9835343
NCBI chr 1:20,790,076...20,860,511
Ensembl chr 1:21,754,733...21,824,405
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RPGRIP1L
RPGRIP1 like
ISO
ClinVar Annotator: match by term: Glomerulosclerosis, focal
ClinVar
PMID:19430481 PMID:20301500 PMID:25741868 PMID:28492532
NCBI chr16:33,836,361...33,939,265
Ensembl chr16:52,920,796...53,023,174
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SCARB2
scavenger receptor class B member 2
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal
ClinVar
PMID:25088547 PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr 4:47,992,589...48,047,528
Ensembl chr 4:53,830,488...53,886,059
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SDCCAG8
SHH signaling and ciliogenesis regulator SDCCAG8
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal
ClinVar
PMID:25741868
NCBI chr 1:218,856,571...219,107,855
Ensembl chr 1:224,239,009...224,481,132
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SERPINE1
serpin family E member 1
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:18682491 PMID:22303720
RGD:13208548
NCBI chr 7:93,267,517...93,279,728
Ensembl chr 7:106,510,130...106,518,450
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SHH
sonic hedgehog signaling molecule
ISO
RGD
PMID:24744439
RGD:12859042
NCBI chr 7:147,400,112...147,414,036
Ensembl chr 7:159,114,666...159,126,651
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SLC17A5
solute carrier family 17 member 5
ISO
ClinVar Annotator: match by term: Glomerulosclerosis, focal
ClinVar
PMID:25741868 PMID:28492532 PMID:29140481
NCBI chr 6:71,404,354...71,477,511
Ensembl chr 6:74,702,447...74,760,557
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SMARCAL1
SNF2 related chromatin remodeling annealing helicase 1
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal
ClinVar
PMID:11799392 PMID:15880370 PMID:16840568 PMID:17089404 PMID:18805831 PMID:19127206 PMID:20301550 PMID:21914180 PMID:22998683 PMID:24589093 PMID:25741868 PMID:26499378 PMID:28492532 PMID:28796785 PMID:29127259 PMID:30784191 More...
NCBI chr2B:103,672,934...103,743,802
Ensembl chr2B:222,276,353...222,347,258
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SPP1
secreted phosphoprotein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9294829
NCBI chr 4:80,263,711...80,271,466
Ensembl chr 4:90,988,200...90,995,935
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SRGAP1
SLIT-ROBO Rho GTPase activating protein 1
ISO
MouseDO
NCBI chr12:24,760,093...25,066,794
Ensembl chr12:25,262,893...25,564,180
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TGFB1
transforming growth factor beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16191423 PMID:18682491 PMID:20493835
NCBI chr19:38,324,009...38,347,003
Ensembl chr19:46,831,659...46,852,973
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TMEM63C
transmembrane protein 63C
ISO
protein:decreased expression:kidney,renal glomerulus (human)
RGD
PMID:30900988
RGD:15023481
NCBI chr14:57,734,857...57,812,529
Ensembl chr14:76,974,416...77,011,555
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TNF
tumor necrosis factor
ISO
protein:increased expression:serum
RGD
PMID:21221075
RGD:7245511
NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
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TNFAIP2
TNF alpha induced protein 2
ISO
MouseDO
NCBI chr14:83,745,176...83,759,157
Ensembl chr14:103,561,181...103,570,309
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TNFRSF1A
TNF receptor superfamily member 1A
ISO
protein:increased expression:serum
RGD
PMID:21221075
RGD:7245511
NCBI chr12:6,457,617...6,470,969
Ensembl chr12:6,374,257...6,387,613
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TNFRSF1B
TNF receptor superfamily member 1B
ISO
protein:increased expression:serum
RGD
PMID:21221075
RGD:7245511
NCBI chr 1:10,915,743...10,957,765
Ensembl chr 1:12,130,663...12,172,646
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TRPC6
transient receptor potential cation channel subfamily C member 6
treatment
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal DNA:SNP:exon:p.P15S (human)
RGD ClinVar
PMID:19936226 PMID:21839714 PMID:22980509 PMID:23385000 PMID:25019165 PMID:25741868 PMID:26467025 PMID:28492532 PMID:32581362 More...
RGD:7247440 RGD:7247444 RGD:7247445
NCBI chr11:96,414,498...96,551,670
Ensembl chr11:99,919,410...100,050,685
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VLDLR
very low density lipoprotein receptor
ISO
protein:decreased expression:adipose tissue, skeletal muscle (rat)
RGD
PMID:11786096
RGD:2324671
NCBI chr 9:2,428,639...2,463,796
Ensembl chr 9:2,621,199...2,653,980
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VWF
von Willebrand factor
ISO
RGD
PMID:22295953
RGD:7207031
NCBI chr12:6,073,836...6,249,806
Ensembl chr12:5,990,612...6,165,153
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WT1
WT1 transcription factor
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
ClinVar
PMID:7795587 PMID:8388765 PMID:9108089 PMID:9531607 PMID:10571943 PMID:11241055 PMID:11738793 PMID:12471221 PMID:15150775 PMID:15483024 PMID:18559874 PMID:18591546 PMID:18618575 PMID:19171881 PMID:19205749 PMID:19221039 PMID:19494353 PMID:19536888 PMID:20368469 PMID:20413658 PMID:20435628 PMID:20595692 PMID:21504297 PMID:21508141 PMID:21851196 PMID:23117548 PMID:23515051 PMID:25110071 PMID:25145932 PMID:25349199 PMID:25383892 PMID:25741868 PMID:25818337 PMID:25932436 PMID:26467025 PMID:26725263 PMID:28492532 PMID:30406062 PMID:33226606 PMID:34386660 PMID:34727091 PMID:38219185 More...
NCBI chr11:32,349,807...32,398,494
Ensembl chr11:32,238,720...32,287,249
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ZMPSTE24
zinc metallopeptidase STE24
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17152860
NCBI chr 1:39,545,264...39,589,721
Ensembl chr 1:40,869,076...40,912,747
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ACE
angiotensin I converting enzyme
treatment
ISO
RGD
PMID:8505110
RGD:12880006
NCBI chr17:57,556,294...57,577,294
Ensembl chr17:62,702,341...62,733,853
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ACTN4
actinin alpha 4
ISO
ClinVar Annotator: match by term: ACTN4-related condition | ClinVar Annotator: match by term: Focal sclerosis with hyalinosis | ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 1
OMIM ClinVar
PMID:9536098 PMID:10700177 PMID:16251236 PMID:17576681 PMID:18594871 PMID:19142020 PMID:19956976 PMID:21680739 PMID:22351778 PMID:22732337 PMID:23890478 PMID:24130771 PMID:25741868 PMID:26248470 PMID:26301083 PMID:26346198 PMID:26467025 PMID:26740551 PMID:27535533 PMID:28492532 PMID:29869118 PMID:30406062 PMID:31027891 PMID:36090564 More...
NCBI chr19:35,742,758...35,825,321
Ensembl chr19:44,313,569...44,395,508
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ARHGAP24
Rho GTPase activating protein 24
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 1
ClinVar
NCBI chr 4:77,788,074...78,316,357
Ensembl chr 4:88,619,296...89,045,861
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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 1:154,847,978...155,043,339
Ensembl chr 1:158,536,967...158,724,251
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C2
complement C2
ISO
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis
ClinVar
PMID:2249879 PMID:6308626 PMID:8181962 PMID:16518403 PMID:16936732 PMID:18806293 PMID:21541267 PMID:24033266 PMID:25741868 PMID:28492532 More...
NCBI chr 6:31,590,135...31,606,368
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C3
complement C3
ISO
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis
ClinVar
PMID:1976733 PMID:17634448 PMID:18325906 PMID:19168221 PMID:25741868 PMID:28492532 More...
NCBI chr19:5,708,211...5,753,178
Ensembl chr19:6,629,287...6,674,699
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CD2AP
CD2 associated protein
ISO
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis
ClinVar
PMID:25741868
NCBI chr 6:47,065,284...47,210,746
Ensembl chr 6:48,328,863...48,474,163
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CFB
complement factor B
ISO
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis
ClinVar
PMID:2249879 PMID:6308626 PMID:8181962 PMID:16518403 PMID:16936732 PMID:18806293 PMID:21541267 PMID:24033266 PMID:25741868 PMID:28492532 More...
NCBI chr 6:31,606,716...31,612,782
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CFI
complement factor I
ISO
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis
ClinVar
PMID:18825487 PMID:25741868 PMID:28492532
NCBI chr 4:102,236,868...102,311,359
Ensembl chr 4:112,804,645...112,865,581
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COL4A4
collagen type IV alpha 4 chain
ISO
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis
ClinVar
PMID:19129241 PMID:21196518 PMID:24052634 PMID:24522496 PMID:24854265 PMID:25307543 PMID:25741868 PMID:26809805 PMID:27281700 PMID:28492532 PMID:31049720 PMID:31922066 More...
NCBI chr2B:114,227,135...114,410,564
Ensembl chr2B:233,065,678...233,205,892
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CUBN
cubilin
ISO
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis
ClinVar
PMID:25741868 PMID:28492532
NCBI chr10:17,141,464...17,446,867
Ensembl chr10:17,415,551...17,719,129
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EYA1
EYA transcriptional coactivator and phosphatase 1
ISO
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis
ClinVar
PMID:10991693 PMID:24033266 PMID:25741868 PMID:31049720
NCBI chr 8:67,728,057...68,060,069
Ensembl chr 8:69,387,769...69,551,829
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INF2
inverted formin 2
ISO
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis
ClinVar
PMID:25741868 PMID:28492532
NCBI chr14:85,339,478...85,366,336
Ensembl chr14:105,145,779...105,163,154
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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 chr19:32,769,592...32,785,045
Ensembl chr19:41,518,306...41,533,467
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LAMB2
laminin subunit beta 2
ISO
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis
ClinVar
PMID:20556798 PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr 3:49,045,419...49,057,340
Ensembl chr 3:50,125,460...50,137,074
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MYH9
myosin heavy chain 9
ISO
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis
ClinVar
PMID:19557653 PMID:23144074 PMID:24033266 PMID:25741868 PMID:26346198 PMID:26467025 PMID:26969326 PMID:27068579 PMID:28492532 More...
NCBI chr22:17,200,623...17,305,826
Ensembl chr22:35,039,101...35,121,618
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MYO9A
myosin IXA
ISO
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis
ClinVar
PMID:25741868 PMID:33412162
NCBI chr15:50,771,747...51,069,700
Ensembl chr15:69,541,318...69,760,771
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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 chr 1:223,052,307...223,084,736
Ensembl chr 1:228,505,147...228,537,216
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NPHP3
nephrocystin 3
ISO
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 3:129,753,399...129,795,300
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NPHS2
NPHS2 stomatin family member, podocin
ISO
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis
ClinVar
PMID:8589695 PMID:10742096 PMID:11805166 PMID:11854170 PMID:12446471 PMID:12464671 PMID:12707396 PMID:12776285 PMID:14978175 PMID:15042551 PMID:15253708 PMID:15327385 PMID:15496146 PMID:15769810 PMID:15954915 PMID:15968559 PMID:16286890 PMID:16481888 PMID:16810518 PMID:16900088 PMID:17371932 PMID:17899208 PMID:17942957 PMID:18216321 PMID:18499321 PMID:18683072 PMID:18823551 PMID:19145239 PMID:19268410 PMID:19406966 PMID:19520069 PMID:19812541 PMID:20333530 PMID:20798252 PMID:20947785 PMID:21355056 PMID:21415313 PMID:21722858 PMID:22228437 PMID:22578956 PMID:23242530 PMID:23349334 PMID:23515051 PMID:23595123 PMID:23645318 PMID:23800802 PMID:24227627 PMID:24509478 PMID:24715228 PMID:24742477 PMID:24969201 PMID:25599733 PMID:25741868 PMID:26138234 PMID:26211502 PMID:26413278 PMID:26420286 PMID:26467025 PMID:27885584 PMID:28492532 PMID:28529802 PMID:28712774 PMID:28780565 PMID:29869118 PMID:30241959 PMID:30260545 PMID:30348286 PMID:30655312 PMID:31027891 PMID:31738409 PMID:32129207 PMID:32467597 PMID:32581362 PMID:33193607 PMID:33532864 PMID:34405919 PMID:34853150 More...
NCBI chr 1:155,038,753...155,064,332
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NUP107
nucleoporin 107
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 1
ClinVar
NCBI chr12:66,198,838...66,254,505
Ensembl chr12:68,981,409...69,035,642
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PAX2
paired box 2
ISO
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis
ClinVar
PMID:3377002 PMID:8589702 PMID:9106533 PMID:11093271 PMID:11241473 PMID:11461952 PMID:22213154 PMID:22350371 PMID:24429398 PMID:24676634 PMID:25741868 PMID:27226968 PMID:28492532 PMID:31001663 PMID:32203253 PMID:33532864 PMID:34696790 PMID:35444690 More...
NCBI chr10:97,344,978...97,429,086
Ensembl chr10:100,822,676...100,904,028
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PLCE1
phospholipase C epsilon 1
ISO
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr10:90,731,695...91,065,846
Ensembl chr10:94,278,550...94,575,024
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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 chr16:7,731,266...7,782,871
Ensembl chr16:8,971,692...9,020,406
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RPGRIP1L
RPGRIP1 like
ISO
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis
ClinVar
PMID:19430481 PMID:20301500 PMID:25741868 PMID:28492532
NCBI chr16:33,836,361...33,939,265
Ensembl chr16:52,920,796...53,023,174
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SCARB2
scavenger receptor class B member 2
ISO
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr 4:47,992,589...48,047,528
Ensembl chr 4:53,830,488...53,886,059
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SDCCAG8
SHH signaling and ciliogenesis regulator SDCCAG8
ISO
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis
ClinVar
PMID:25741868
NCBI chr 1:218,856,571...219,107,855
Ensembl chr 1:224,239,009...224,481,132
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SLC17A5
solute carrier family 17 member 5
ISO
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis
ClinVar
PMID:25741868 PMID:28492532 PMID:29140481
NCBI chr 6:71,404,354...71,477,511
Ensembl chr 6:74,702,447...74,760,557
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SMARCAL1
SNF2 related chromatin remodeling annealing helicase 1
ISO
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis
ClinVar
PMID:11799392 PMID:15880370 PMID:16840568 PMID:17089404 PMID:18805831 PMID:19127206 PMID:20301550 PMID:21914180 PMID:22998683 PMID:24589093 PMID:25741868 PMID:26499378 PMID:28492532 PMID:28796785 PMID:29127259 PMID:30784191 More...
NCBI chr2B:103,672,934...103,743,802
Ensembl chr2B:222,276,353...222,347,258
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TRPC6
transient receptor potential cation channel subfamily C member 6
ISO
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis
ClinVar
PMID:25741868 PMID:28492532
NCBI chr11:96,414,498...96,551,670
Ensembl chr11:99,919,410...100,050,685
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TRPC6
transient receptor potential cation channel subfamily C member 6
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 2 | ClinVar Annotator: match by term: TRPC6-related condition
OMIM ClinVar
PMID:2298509 PMID:10200986 PMID:15879175 PMID:15924139 PMID:16932363 PMID:19129465 PMID:19380626 PMID:19936226 PMID:21734084 PMID:22732337 PMID:22980509 PMID:23171048 PMID:23291369 PMID:23645677 PMID: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 chr11:96,414,498...96,551,670
Ensembl chr11:99,919,410...100,050,685
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CD2AP
CD2 associated protein
ISO
ClinVar Annotator: match by term: CD2AP-related condition | ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 3, susceptibility to
OMIM ClinVar
PMID:10514378 PMID:12764198 PMID:17713465 PMID:18443213 PMID:19131354 PMID:22971997 PMID:24033266 PMID:25741868 PMID:26346198 PMID:28492532 PMID:30406062 PMID:30612599 PMID:31027891 PMID:33712733 PMID:34408996 PMID:36134775 More...
NCBI chr 6:47,065,284...47,210,746
Ensembl chr 6:48,328,863...48,474,163
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ADSS1
adenylosuccinate synthase 1
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5
ClinVar
PMID:28492532
Ensembl chr14:105,169,769...105,190,333
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AHNAK2
AHNAK nucleoprotein 2
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5
ClinVar
PMID:28492532
NCBI chr14:85,587,016...85,627,319
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AKT1
AKT serine/threonine kinase 1
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5
ClinVar
PMID:28492532
NCBI chr14:85,417,229...85,444,722
Ensembl chr14:105,208,128...105,236,756
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BRF1
BRF1 general transcription factor IIIB subunit
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5
ClinVar
PMID:28492532
NCBI chr14:85,851,908...85,950,489
Ensembl chr14:105,635,757...105,714,465
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BTBD6
BTB domain containing 6
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5
ClinVar
PMID:28492532
NCBI chr14:85,883,988...85,886,491
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CDCA4
cell division cycle associated 4
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5
ClinVar
PMID:28492532
NCBI chr14:85,659,022...85,670,182
Ensembl chr14:105,444,672...105,445,397
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CEP170B
centrosomal protein 170B
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5
ClinVar
PMID:28492532
NCBI chr14:85,515,684...85,548,410
Ensembl chr14:105,307,591...105,332,523
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CLBA1
clathrin binding box of aftiphilin containing 1
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5
ClinVar
PMID:28492532
NCBI chr14:85,634,349...85,649,411
Ensembl chr14:105,419,834...105,441,870
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GPR132
G protein-coupled receptor 132
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5
ClinVar
PMID:28492532
NCBI chr14:85,697,589...85,716,764
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INF2
inverted formin 2
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 | ClinVar Annotator: match by term: INF2-related condition
OMIM ClinVar
PMID:6054293 PMID:9536098 PMID:16199547 PMID:17576681 PMID:20023659 PMID:20803156 PMID:21258034 PMID:21415313 PMID:21866090 PMID:22187985 PMID:22961558 PMID:23014460 PMID:23349334 PMID:23515051 PMID: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 More...
NCBI chr14:85,339,478...85,366,336
Ensembl chr14:105,145,779...105,163,154
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JAG2
jagged canonical Notch ligand 2
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5
ClinVar
PMID:28492532
NCBI chr14:85,785,586...85,812,056
Ensembl chr14:105,569,837...105,585,878
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NUDT14
nudix hydrolase 14
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5
ClinVar
PMID:28492532
NCBI chr14:85,816,561...85,824,887
Ensembl chr14:105,600,783...105,605,538
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PACS2
phosphofurin acidic cluster sorting protein 2
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5
ClinVar
PMID:28492532
NCBI chr14:85,935,807...86,035,935
Ensembl chr14:105,737,878...105,810,349
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PLD4
phospholipase D family member 4
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5
ClinVar
PMID:28492532
NCBI chr14:85,574,724...85,587,176
Ensembl chr14:105,360,584...105,369,247
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SIVA1
SIVA1 apoptosis inducing factor
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5
ClinVar
PMID:28492532
NCBI chr14:85,404,148...85,408,254
Ensembl chr14:105,196,118...105,202,678
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ZBTB42
zinc finger and BTB domain containing 42
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5
ClinVar
PMID:28492532
NCBI chr14:85,449,536...85,453,692
Ensembl chr14:105,243,998...105,245,266
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LDHAL6B
lactate dehydrogenase A like 6B
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 6
ClinVar
PMID:25741868
NCBI chr15:38,176,451...38,179,189
Ensembl chr15:56,484,343...56,485,488
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MYO1E
myosin IE
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 6 | ClinVar Annotator: match by term: MYO1E-related condition
OMIM ClinVar
PMID:9536098 PMID:17576681 PMID:21756023 PMID:25741868 PMID:28492532 PMID:33532864 More...
NCBI chr15:38,106,599...38,343,040
Ensembl chr15:56,413,570...56,649,722
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PAX2
paired box 2
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 7
OMIM ClinVar
PMID: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 chr10:97,344,978...97,429,086
Ensembl chr10:100,822,676...100,904,028
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ANLN
anillin, actin binding protein
ISO
ClinVar Annotator: match by term: ANLN-related condition | ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 8
OMIM ClinVar
PMID:24676636 PMID:25741868 PMID:28106320 PMID:28492532 PMID:29869118
NCBI chr 7:37,011,518...37,075,349
Ensembl chr 7:37,243,917...37,304,137
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SYNPO
synaptopodin
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 8
ClinVar
PMID:25741868 PMID:33615071
NCBI chr 5:146,048,956...146,083,490
Ensembl chr 5:152,046,207...152,085,595
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CRB2
crumbs cell polarity complex component 2
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 9
OMIM ClinVar
PMID:25557779 PMID:25741868 PMID:26795916 PMID:27004616 PMID:27942854 PMID:28492532 PMID:30212996 PMID:32581362 PMID:33532864 More...
NCBI chr 9:94,473,423...94,511,285
Ensembl chr 9:123,011,968...123,032,855
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TRIM8
tripartite motif containing 8
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis and neurodevelopmental syndrome | ClinVar Annotator: match by term: TRIM8-related condition
OMIM ClinVar
PMID:25741868 PMID:27346735 PMID:28492532 PMID:29758562 PMID:30244534 PMID:32193649 PMID:32531461 PMID:33508234 PMID:34930159 More...
NCBI chr10:99,242,187...99,256,342
Ensembl chr10:102,707,199...102,720,565
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CFH
complement factor H
ISO
DNA:SNPs,Haplotype::
RGD
PMID:17517971
RGD:7364995
NCBI chr 1:172,155,882...172,251,632
Ensembl chr 1:176,455,247...176,525,521
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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 chr2B:102,574,700...102,612,492
Ensembl chr2B:221,159,439...221,197,360
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FN1
fibronectin 1
ISO
ClinVar Annotator: match by term: Glomerulopathy with fibronectin deposits 2
OMIM ClinVar
PMID:1544672 PMID:7564073 PMID:7747733 PMID:9536098 PMID:12042895 PMID:17576681 PMID:18268355 PMID:25741868 PMID:28492532 PMID:29100092 PMID:30599297 PMID:32200603 PMID:36774238 More...
NCBI chr2B:102,623,568...102,698,747
Ensembl chr2B:221,208,431...221,284,003
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INF2
inverted formin 2
ISO
ClinVar Annotator: match by term: Glomerulopathy with fibronectin deposits 2
ClinVar
PMID:25741868
NCBI chr14:85,339,478...85,366,336
Ensembl chr14:105,145,779...105,163,154
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ACE
angiotensin I converting enzyme
treatment
ISO
RGD
PMID:21718676
RGD:12879389
NCBI chr17:57,556,294...57,577,294
Ensembl chr17:62,702,341...62,733,853
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AGER
advanced glycosylation end-product specific receptor
treatment
ISO
associated with Diabetic Nephropathies
RGD
PMID:20554645 PMID:23046363
RGD:7243247 RGD:7244139
NCBI chr 6:31,828,363...31,831,981
Ensembl chr 6:32,708,251...32,711,641
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AGTR1
angiotensin II receptor type 1
ISO
mRNA:decreased expression:kidney
RGD
PMID:12495295
RGD:6903859
NCBI chr 3:145,722,475...145,767,550
Ensembl chr 3:153,341,947...153,345,380
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AGTR2
angiotensin II receptor type 2
ISO
mRNA:increased expression:kidney associated with Kidney Failure, Chronic
RGD
PMID:12495295 PMID:20042458 PMID:20631980
RGD:6903284 RGD:6903859 RGD:6903882
NCBI chr X:105,252,903...105,257,171
Ensembl chr X:115,671,594...115,672,685
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APOE
apolipoprotein E
ISO
protein:increased expression:renal glomerulus (rat)
RGD
PMID:21907828 PMID:22207560
RGD:6903199 RGD:6903285
NCBI chr19:41,853,669...41,857,252
Ensembl chr19:50,459,906...50,463,490
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COL3A1
collagen type III alpha 1 chain
ISO
RGD
PMID:20610530
RGD:7257557
NCBI chr2B:76,285,115...76,322,703
Ensembl chr2B:194,204,613...194,242,956
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ESR2
estrogen receptor 2
susceptibility
ISO
protein:decreased expression:renal glomerulus (mouse)
RGD
PMID:12000739
RGD:7364801
NCBI chr14:44,807,875...44,919,780
Ensembl chr14:63,064,402...63,131,303
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FBN1
fibrillin 1
ISO
associated with Hypertension
RGD
PMID:16380460
RGD:7365080
NCBI chr15:27,358,780...27,593,539
Ensembl chr15:45,682,450...45,918,111
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HBEGF
heparin binding EGF like growth factor
induced
ISO
RGD
PMID:16107576
RGD:1556472
NCBI chr 5:135,699,553...135,713,366
Ensembl chr 5:141,816,402...141,830,531
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IL1B
interleukin 1 beta
ISO
associated with Hypertension
RGD
PMID:19948880
RGD:7175503
NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424
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MMP1
matrix metallopeptidase 1
ISO
protein:decreased expression:kidney (rat) associated with Hyperhomocysteinemia
RGD
PMID:20406136 PMID:21275176
RGD:7207203 RGD:7207363
NCBI chr11:97,730,545...97,739,190
Ensembl chr11:101,221,393...101,230,104
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MMP9
matrix metallopeptidase 9
ISO
associated with Hyperhomocysteinemia associated with Obesity;mRNA:decreased expression:glomerulus
RGD
PMID:9300240 PMID:20406136
RGD:7207203 RGD:8547929
NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129
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NPHS1
NPHS1 adhesion molecule, nephrin
treatment
ISO
RGD
PMID:22125642
RGD:40902998
NCBI chr19:32,742,802...32,770,600
Ensembl chr19:41,492,444...41,518,471
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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 chr10:97,344,978...97,429,086
Ensembl chr10:100,822,676...100,904,028
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PLA2G7
phospholipase A2 group VII
ISO
RGD
PMID:16213192
RGD:7248790
NCBI chr 6:46,264,262...46,318,487
Ensembl chr 6:47,558,861...47,590,212
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PLEKHA7
pleckstrin homology domain containing A7
ameliorates
ISO
compared to wild type
RGD
PMID:25136115
RGD:11079199
NCBI chr11:16,861,464...17,095,610
Ensembl chr11:16,555,368...16,647,075
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PPARG
peroxisome proliferator activated receptor gamma
treatment
ISO
RGD
PMID:11318962
RGD:8553043
NCBI chr 3:12,215,322...12,361,669
Ensembl chr 3:12,622,397...12,705,060
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RGS2
regulator of G protein signaling 2
susceptibility
ISO
associated with Hypertension
RGD
PMID:26606876
RGD:13524570
NCBI chr 1:168,273,112...168,276,348
Ensembl chr 1:172,566,701...172,569,955
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RNLS
renalase, FAD dependent amine oxidase
ISO
RGD
PMID:24022426
RGD:7327155
NCBI chr10:84,996,999...85,304,240
Ensembl chr10:88,503,683...88,808,990
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SERPINE1
serpin family E member 1
treatment
ISO
mRNA, protein:increased expression:kidney (rat)
RGD
PMID:26999660 PMID:27129290
RGD:11073618 RGD:11073688
NCBI chr 7:93,267,517...93,279,728
Ensembl chr 7:106,510,130...106,518,450
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SHC1
SHC adaptor protein 1
ameliorates
ISO
RGD
PMID:27270176
RGD:12792230
NCBI chr 1:130,310,778...130,323,001
Ensembl chr 1:133,920,532...133,929,008
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SLC2A1
solute carrier family 2 member 1
ISO
RGD
PMID:19918242
RGD:12879501
NCBI chr 1:42,224,273...42,257,184
Ensembl chr 1:43,600,733...43,634,143
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SPP1
secreted phosphoprotein 1
ISO
RGD
PMID:12675855
RGD:6903837
NCBI chr 4:80,263,711...80,271,466
Ensembl chr 4:90,988,200...90,995,935
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SYNPO
synaptopodin
treatment
ISO
RGD
PMID:22125642
RGD:40902998
NCBI chr 5:146,048,956...146,083,490
Ensembl chr 5:152,046,207...152,085,595
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TNFRSF1B
TNF receptor superfamily member 1B
ISO
associated with Hypertension
RGD
PMID:23389459
RGD:7245475
NCBI chr 1:10,915,743...10,957,765
Ensembl chr 1:12,130,663...12,172,646
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SOX18
SRY-box transcription factor 18
ISO
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...
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ACE
angiotensin I converting enzyme
disease_progression
ISO
DNA:polymorphism:intron: ClinVar Annotator: match by term: Susceptibility to progression to renal failure in IgA nephropathy
RGD ClinVar
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 More...
RGD:7257515
NCBI chr17:57,556,294...57,577,294
Ensembl chr17:62,702,341...62,733,853
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ACSM3
acyl-CoA synthetase medium chain family member 3
disease_progression
ISO
DNA:polymorphism: :
RGD
PMID:12484505
RGD:7241283
NCBI chr16:17,611,715...17,644,587
Ensembl chr16:20,796,425...20,829,315
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ADAM10
ADAM metallopeptidase domain 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:32715474
NCBI chr15:37,562,930...37,717,175
Ensembl chr15:55,873,606...56,027,188
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ADD1
adducin 1
disease_progression
ISO
DNA:polymorphism:cds:rs4961(human)
RGD
PMID:19838659
RGD:7174725
NCBI chr 4:2,986,301...3,072,590
Ensembl chr 4:2,920,781...2,975,012
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ADD2
adducin 2
disease_progression
ISO
DNA:polymorphism:cds: rs4984(human)
RGD
PMID:19838659
RGD:7174725
NCBI chr2A:70,724,454...70,831,248
Ensembl chr2A:71,839,470...71,895,106
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AGT
angiotensinogen
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9259580
NCBI chr 1:206,252,141...206,263,830
Ensembl chr 1:211,279,015...211,291,044
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AGTR1
angiotensin II receptor type 1
ISO
protein:increased expression:kidney tubule
RGD
PMID:15930094
RGD:6903851
NCBI chr 3:145,722,475...145,767,550
Ensembl chr 3:153,341,947...153,345,380
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AGTR2
angiotensin II receptor type 2
disease_progression
ISO
DNA:polymorphism: :1818A>T (human) protein:increased expression:kidney tubule
RGD
PMID:15930094 PMID:19194560
RGD:6903844 RGD:6903851
NCBI chr X:105,252,903...105,257,171
Ensembl chr X:115,671,594...115,672,685
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AURKB
aurora kinase B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25133636
NCBI chr17:43,447,661...43,453,864
Ensembl chr17:48,180,066...48,186,129
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B4GALT1
beta-1,4-galactosyltransferase 1
ISO
OMIM:161950 | OMIM:616818
MouseDO
NCBI chr 9:32,889,124...32,945,759
Ensembl chr 9:33,691,733...33,754,192
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C1QA
complement C1q A chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8840296 PMID:25133636
NCBI chr 1:21,821,927...21,825,020
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C1QB
complement C1q B chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25133636
NCBI chr 1:21,838,514...21,846,855
Ensembl chr 1:22,786,685...22,797,581
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C2
complement C2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25133636
NCBI chr 6:31,590,135...31,606,368
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C3
complement C3
ISO
mRNA,protein:increased expression, increased activity:kidney
RGD
PMID:11287758
RGD:7175543
NCBI chr19:5,708,211...5,753,178
Ensembl chr19:6,629,287...6,674,699
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CARD9
caspase recruitment domain family member 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25305756
NCBI chr 9:107,432,709...107,446,271
Ensembl chr 9:136,416,279...136,424,756
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CCL2
C-C motif chemokine ligand 2
ISO
protein:increased expression:kidney
RGD
PMID:18433541
RGD:2307041
NCBI chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384
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CCL20
C-C motif chemokine ligand 20
disease_progression
ISO
RGD
PMID:23192593
RGD:7483632
NCBI chr2B:115,052,768...115,056,479
Ensembl chr2B:233,862,505...233,866,225
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CCR6
C-C motif chemokine receptor 6
disease_progression
ISO
RGD
PMID:23192593
RGD:7483632
NCBI chr 6:165,094,563...165,109,774
Ensembl chr 6:170,069,689...170,084,779
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CD14
CD14 molecule
disease_progression
ISO
DNA:polymorphism:promoter:c. -159C>T (human)
RGD
PMID:12566518
RGD:7204499
NCBI chr 5:135,996,265...135,997,909
Ensembl chr 5:142,113,082...142,118,966
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CD163
CD163 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25133636
NCBI chr12:7,616,714...7,649,768
Ensembl chr12:7,775,343...7,810,023
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CD44
CD44 molecule (IN blood group)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25133636
NCBI chr11:35,110,732...35,258,238
Ensembl chr11:34,985,634...35,079,009
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CFB
complement factor B
disease_progression
ISO
protein:increased expression:serum mRNA:increased expression:kidney
RGD
PMID:3118258 PMID:8567024 PMID:17385664
RGD:7242737 RGD:7242754 RGD:7242759
NCBI chr 6:31,606,716...31,612,782
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CHGA
chromogranin A
ISO
associated with Hypertension;DNA:polymorphism:promoter:-415T>C (human)
RGD
PMID:20113265
RGD:6906902
NCBI chr14:73,555,834...73,568,547
Ensembl chr14:92,895,450...92,908,159
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CORO1C
coronin 1C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25133636
NCBI chr12:106,220,755...106,306,098
Ensembl chr12:109,617,093...109,674,368
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CXCR2
C-X-C motif chemokine receptor 2
ISO
DNA:SNPs: :rs4674257, rs4674259 (human)
RGD
PMID:21214373
RGD:7257677
NCBI chr2B:105,387,198...105,400,533
Ensembl chr2B:223,997,066...223,998,148
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FABP1
fatty acid binding protein 1
ISO
protein:increased expression:urine (human)
RGD
PMID:16118482
RGD:1578453
NCBI chr2A:87,256,032...87,303,505
Ensembl chr2A:89,165,315...89,170,448
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FAS
Fas cell surface death receptor
treatment
ISO
RGD
PMID:29844269
RGD:13792576
NCBI chr10:85,707,457...85,741,539
Ensembl chr10:89,217,949...89,243,612
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FCAR
Fc alpha receptor
ISO
RGD
PMID:21985370 PMID:22451718
RGD:7242063 RGD:7242167
NCBI chr19:51,919,345...51,935,340
Ensembl chr19:60,614,405...60,630,480
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FCGR3A
Fc gamma receptor IIIa
disease_progression
ISO
DNA:polymorphism:exon:p.F176V(human)
RGD
PMID:16221721
RGD:5508463
NCBI chr 1:137,027,943...137,036,738
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FN1
fibronectin 1
ISO
protein:increased expression:kidney
RGD
PMID:15925904
RGD:7206844
NCBI chr2B:102,623,568...102,698,747
Ensembl chr2B:221,208,431...221,284,003
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FOXM1
forkhead box M1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25133636
NCBI chr12:2,978,400...2,999,077
Ensembl chr12:2,910,028...2,930,503
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GPR183
G protein-coupled receptor 183
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25133636
NCBI chr13:80,461,908...80,475,046
Ensembl chr13:99,601,220...99,602,305
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HAVCR1
hepatitis A virus cellular receptor 1
ISO
protein:increased expression:urine:
RGD
PMID:21467131 PMID:23135864
RGD:7245479 RGD:7245983
NCBI chr 5:152,429,337...152,459,800
Ensembl chr 5:158,413,073...158,442,481
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HPSE
heparanase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25133636
NCBI chr 4:40,863,491...40,905,693
Ensembl chr 4:46,709,621...46,755,157
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IGF1R
insulin like growth factor 1 receptor
ISO
DNA: snp::rs2229765
RGD
PMID:21047277
RGD:7242795
NCBI chr15:77,332,926...77,648,474
Ensembl chr15:96,535,164...96,832,974
G
IL18
interleukin 18
ISO
RGD
PMID:22518072
RGD:6893446
NCBI chr11:107,024,376...107,045,194
Ensembl chr11:110,867,586...110,888,371
G
IL1A
interleukin 1 alpha
no_association
ISO
DNA:SNP:promoter
RGD
PMID:21049406
RGD:6907116
NCBI chr2A:89,273,482...89,284,421
Ensembl chr2A:113,784,854...113,795,801
G
IL1B
interleukin 1 beta
no_association
ISO
DNA:SNP DNA:SNPs: :rs1143627, rs3917356, rs1143633 (human)
RGD
PMID:19280228 PMID:21049406
RGD:6907082 RGD:6907116
NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424
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IL1RN
interleukin 1 receptor antagonist
susceptibility
ISO
rat model treated with human protein protein:decreased expression:serum, urine (human) mouse model treated with human protein response to immunoglobulin therapy DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human) DNA:polymorphisms:intron, 3' utr:IVS1+1890G>T, IVS1+8796A>G, *138C>G (rs928940, rs439154, rs315951) (human)
RGD
PMID:9370186 PMID:9844059 PMID:10079261 PMID:10566895 PMID:10916103 PMID:16209246 PMID:19280228 More...
RGD:6906961 RGD:6907082 RGD:6907414 RGD:6907427 RGD:6909131 RGD:6909132 RGD:6909150
NCBI chr2A:88,991,646...89,008,013
Ensembl chr2A:114,061,182...114,078,839
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KIF15
kinesin family member 15
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25133636
NCBI chr 3:44,656,791...44,774,655
Ensembl chr 3:45,713,962...45,809,700
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LAIR1
leukocyte associated immunoglobulin like receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25133636
NCBI chr19:51,306,570...51,316,878
Ensembl chr19:60,146,873...60,156,597
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LAPTM5
lysosomal protein transmembrane 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25133636
NCBI chr 1:30,005,941...30,031,366
Ensembl chr 1:31,032,963...31,058,385
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LCN2
lipocalin 2
ISO
protein:increased expression:urine:
RGD
PMID:21467131
RGD:7245983
NCBI chr 9:99,259,278...99,274,494
Ensembl chr 9:127,940,799...127,944,798
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LHFPL2
LHFPL tetraspan subfamily member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25133636
NCBI chr 5:36,663,171...36,825,272
Ensembl chr 5:37,289,046...37,314,043
G
LOC100972994
HLA class II histocompatibility antigen, DQ beta 1 chain
disease_progression
ISO
CTD Direct Evidence: marker/mechanism DNA:polymorphism: :HLA-DQB1*0301(human)
CTD RGD
PMID:7638860 PMID:25305756
RGD:36174018
NCBI chr 6:32,237,395...32,244,201
Ensembl chr 6:33,353,599...33,360,272
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LOC100991118
defensin alpha 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22197929 PMID:25305756
NCBI chr 8:264,298...265,962
G
LOC117975341
complement factor H-related protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21399633
NCBI chr 1:172,355,204...172,389,914
G
MAN2B1
mannosidase alpha class 2B member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25133636
NCBI chr19:12,208,319...12,228,934
Ensembl chr19:12,954,103...12,974,056
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MERTK
MER proto-oncogene, tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25133636
NCBI chr2A:89,977,226...90,109,970
Ensembl chr2A:113,056,852...113,162,052
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MMP14
matrix metallopeptidase 14
ISO
mRNA:increased expression:glomerulus
RGD
PMID:9848780
RGD:2314955
NCBI chr14:3,654,125...3,665,158
Ensembl chr14:21,753,305...21,764,058
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MS4A6A
membrane spanning 4-domains A6A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25133636
NCBI chr11:55,402,207...55,413,959
Ensembl chr11:58,847,867...58,860,947
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MTR
5-methyltetrahydrofolate-homocysteine methyltransferase
ISO
DNA:polymorphism:Cds :2756A>G(human)
RGD
PMID:21737517
RGD:7207085
NCBI chr 1:212,353,195...212,463,304
Ensembl chr 1:217,358,050...217,460,946
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NGF
nerve growth factor
ISO
DNA:SNP: :rs11102930 (human)
RGD
PMID:21178826
RGD:7242801
NCBI chr 1:87,223,597...87,276,759
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NOTCH2
notch receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:32715474
NCBI chr 1:82,457,829...82,615,142
Ensembl chr 1:117,538,243...117,612,840
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OTUB1
OTU deubiquitinase, ubiquitin aldehyde binding 1
ISO
protein:increased expression:kidney
RGD
PMID:22279542
RGD:7175260
NCBI chr11:59,342,820...59,355,386
Ensembl chr11:62,690,542...62,706,542
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PDE5A
phosphodiesterase 5A
ISO
DNA:SNP: :rs13124532(human)
RGD
PMID:20563733
RGD:7248685
NCBI chr 4:111,682,772...111,817,234
Ensembl chr 4:122,832,175...122,966,636
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PIGR
polymeric immunoglobulin receptor
ISO
ClinVar Annotator: match by term: IgA glomerulonephritis
ClinVar
PMID:12740691 PMID:16282702
NCBI chr 1:182,532,773...182,550,662
Ensembl chr 1:186,811,152...186,829,793
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PLA2G7
phospholipase A2 group VII
disease_progression
ISO
DNA:polymorphism:exon:
RGD
PMID:12220450
RGD:7257515
NCBI chr 6:46,264,262...46,318,487
Ensembl chr 6:47,558,861...47,590,212
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PLAU
plasminogen activator, urokinase
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:9002298
NCBI chr10:70,433,340...70,441,569
Ensembl chr10:73,105,895...73,113,136
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PRC1
protein regulator of cytokinesis 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25133636
NCBI chr15:69,659,420...69,687,707
Ensembl chr15:88,856,323...88,884,071
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SCGB1A1
secretoglobin family 1A member 1
disease_progression
ISO
OMIM:161950 | OMIM:616818
RGD MouseDO
PMID:11967037
RGD:6903255
NCBI chr11:57,774,560...57,780,334
Ensembl chr11:61,133,649...61,137,873
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SELE
selectin E
ISO
ClinVar Annotator: match by term: IgA nephropathy, susceptibility to
ClinVar
PMID:11828340 PMID:16282702
NCBI chr 1:145,205,684...145,217,143
Ensembl chr 1:148,930,437...148,938,313
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SELL
selectin L
ISO
RGD
PMID:11828340 PMID:17452405
RGD:1625253 RGD:7175290
NCBI chr 1:145,173,700...145,194,927
Ensembl chr 1:148,895,373...148,916,393
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SERPINB7
serpin family B member 7
disease_progression
ISO
DNA:SNPs:3' utr:2093C>T, 2180C>T (human) DNA:SNP: :23167A>G (human) DNA:SNP:5' utr, exon:267G>A (human)
RGD
PMID:16550745 PMID:16796905 PMID:18793525
RGD:7207366 RGD:7207372 RGD:7207380
NCBI chr18:57,112,242...57,164,213
Ensembl chr18:60,445,135...60,475,165
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SHH
sonic hedgehog signaling molecule
ISO
RGD
PMID:24744439
RGD:12859042
NCBI chr 7:147,400,112...147,414,036
Ensembl chr 7:159,114,666...159,126,651
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SLC43A3
solute carrier family 43 member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25133636
NCBI chr11:52,647,840...52,668,017
Ensembl chr 3:160,138,345...160,158,459
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SPRY2
sprouty RTK signaling antagonist 2
susceptibility
ISO
ClinVar Annotator: match by term: IgA nephropathy, susceptibility to, 3
OMIM ClinVar
PMID:25741868 PMID:25782674
NCBI chr13:61,569,658...61,574,817
Ensembl chr13:80,596,346...80,597,408
G
ST6GALNAC2
ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17480010
NCBI chr17:70,513,376...70,534,277
Ensembl chr17:76,204,947...76,226,088
G
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 chr2B:78,331,402...78,549,231
Ensembl chr2B:196,247,881...196,366,011
G
TGFB1
transforming growth factor beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11728950
NCBI chr19:38,324,009...38,347,003
Ensembl chr19:46,831,659...46,852,973
G
TIMP1
TIMP metallopeptidase inhibitor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25133636
NCBI chr X:40,018,190...40,022,636
Ensembl chr X:47,914,906...47,919,419
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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 4:33,119,485...33,133,541
Ensembl chr 4:38,979,006...38,981,366
G
TNF
tumor necrosis factor
treatment
ISO
RGD
PMID:9844059
RGD:6909132
NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
G
TNFRSF1A
TNF receptor superfamily member 1A
treatment
ISO
protein:increased expression:serum
RGD
PMID:9844059 PMID:16209246
RGD:6907414 RGD:6909132
NCBI chr12:6,457,617...6,470,969
Ensembl chr12:6,374,257...6,387,613
G
TNFRSF1B
TNF receptor superfamily member 1B
treatment
ISO
protein:increased expression:serum
RGD
PMID:9844059 PMID:16209246
RGD:6907414 RGD:6909132
NCBI chr 1:10,915,743...10,957,765
Ensembl chr 1:12,130,663...12,172,646
G
TNFSF13
TNF superfamily member 13
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22197929
NCBI chr17:7,589,931...7,593,527
Ensembl chr17:7,576,465...7,579,834
G
TNFSF13B
TNF superfamily member 13b
ISO
OMIM:161950
MouseDO
NCBI chr13:89,399,044...89,438,837
Ensembl chr13:108,536,617...108,574,296
G
TNFSF14
TNF superfamily member 14
ISO
OMIM:161950
MouseDO
NCBI chr19:5,691,648...5,700,935
Ensembl chr19:6,614,378...6,621,763
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VAV3
vav guanine nucleotide exchange factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25305756
NCBI chr 1:110,101,651...110,531,294
Ensembl chr 1:109,210,813...109,617,658
G
VSIG4
V-set and immunoglobulin domain containing 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25133636
NCBI chr X:55,137,938...55,155,569
Ensembl chr X:65,211,313...65,229,332
G
WAS
WASP actin nucleation promoting factor
ISO
OMIM:161950 | OMIM:616818
MouseDO
NCBI chr X:40,982,132...40,989,767
Ensembl chr X:48,842,765...48,850,380
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CDKN1A
cyclin dependent kinase inhibitor 1A
treatment
ISO
RGD
PMID:24119646
RGD:10043363
NCBI chr 6:36,241,405...36,250,032
Ensembl chr 6:37,436,990...37,445,599
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IL13
interleukin 13
ISO
RGD
PMID:17429054
RGD:2290347
NCBI chr 5:128,073,863...128,078,453
Ensembl chr 5:134,235,788...134,240,548
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IL17A
interleukin 17A
ISO
Protein:increased expression:plasma (rat)
RGD
PMID:22772331
RGD:9068937
NCBI chr 6:51,736,269...51,740,538
Ensembl chr 6:53,004,820...53,009,074
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LGALS1
galectin 1
ISO
protein:decreased expression:glomerulus, podocytes (rat)
RGD
PMID:19079321
RGD:2316526
NCBI chr22:18,593,154...18,597,432
Ensembl chr22:36,426,228...36,430,356
G
LMX1B
LIM homeobox transcription factor 1 beta
ISO
ClinVar Annotator: match by term: Lipoid nephrosis
ClinVar
PMID:23687361 PMID:32581362
NCBI chr 9:97,730,850...97,820,554
Ensembl chr 9:126,240,722...126,322,420
G
NR3C1
nuclear receptor subfamily 3 group C member 1
disease_progression
ISO
RGD
PMID:17890747
RGD:7174718
NCBI chr 5:138,634,278...139,089,171
Ensembl chr 5:144,741,452...144,865,269
G
STAT6
signal transducer and activator of transcription 6
no_association severity
ISO
DNA:polymorphism:3' utr:2964G>A (human) DNA:polymorphism:3' utr:g.2964G>A (human) DNA:repeat:exon, 5' utr:g.-3041(GT)15-16 (human)
RGD
PMID:12900808 PMID:15687724 PMID:19011907
RGD:7244138 RGD:7244144 RGD:7244146
Ensembl chr12:32,068,679...32,085,099
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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 chr 6:31,828,363...31,831,981
Ensembl chr 6:32,708,251...32,711,641
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APOC3
apolipoprotein C3
ISO
protein:increased expression:serum
RGD
PMID:17957542
RGD:7207211
NCBI chr11:111,667,816...111,670,861
Ensembl chr11:115,600,416...115,603,460
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C3
complement C3
ISO
protein:decreased expression:serum CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:21888025 PMID:31182691
RGD:7175544
NCBI chr19:5,708,211...5,753,178
Ensembl chr19:6,629,287...6,674,699
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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:11528534 RGD:8549732
NCBI chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384
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CCR1
C-C motif chemokine receptor 1
disease_progression
ISO
RGD
PMID:15153561
RGD:5688164
NCBI chr 3:46,107,526...46,114,229
Ensembl chr 3:47,214,688...47,215,755
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CD40
CD40 molecule
treatment
ISO
RGD
PMID:18566369 PMID:19265127 PMID:23799000
RGD:7248418 RGD:7248425 RGD:7248429
NCBI chr20:42,455,711...42,467,139
Ensembl chr20:43,541,619...43,552,994
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CD40LG
CD40 ligand
treatment
ISO
protein:increased expression:serum
RGD
PMID:11751940 PMID:12632425 PMID:13130474 PMID:15693003 PMID:20726330
RGD:7248426 RGD:7248439 RGD:7248600 RGD:7248710 RGD:7248714
NCBI chr X:125,776,138...125,788,820
Ensembl chr X:136,042,849...136,058,202
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CFB
complement factor B
ISO
RGD
PMID:3183062 PMID:10623824 PMID:21893562
RGD:7242736 RGD:7242755 RGD:7242763
NCBI chr 6:31,606,716...31,612,782
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CFH
complement factor H
ISO
RGD
PMID:22171659
RGD:5684551
NCBI chr 1:172,155,882...172,251,632
Ensembl chr 1:176,455,247...176,525,521
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CLU
clusterin
ISO
mRNA:increased expression: epithelial cell of renal tubule
RGD
PMID:9546356
RGD:8890679
NCBI chr 8:26,867,973...26,884,838
Ensembl chr 8:24,070,053...24,083,523
G
COL1A1
collagen type I alpha 1 chain
ISO
mRNA, protein:increased expression:kidney cortex associated with Graft vs Host Disease
RGD
PMID:7700025 PMID:7723234 PMID:21354048
RGD:5688301 RGD:5688332 RGD:5688333
NCBI chr17:44,274,349...44,291,764
Ensembl chr17:49,150,677...49,166,677
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CRP
C-reactive protein
no_association
ISO
DNA:SNP
RGD
PMID:15692982 PMID:17596285 PMID:18852001 PMID:20039408
RGD:5508454 RGD:6907400 RGD:6909145 RGD:6909146
NCBI chr 1:135,062,102...135,064,402
G
CSF1
colony stimulating factor 1
ISO
RGD
PMID:17659436 PMID:21885670
RGD:7257567 RGD:7257589
NCBI chr 1:112,555,755...112,575,894
Ensembl chr 1:127,764,916...127,781,943
G
CTLA4
cytotoxic T-lymphocyte associated protein 4
ISO
RGD
PMID:15146424
RGD:7204726
NCBI chr2B:91,054,917...91,106,234
Ensembl chr2B:209,239,417...209,244,498
G
EGF
epidermal growth factor
ISO
RGD
PMID:21354048
RGD:5688301
NCBI chr 4:102,410,724...102,509,691
Ensembl chr 4:112,977,565...113,076,460
G
FAS
Fas cell surface death receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:33632240 PMID:38555047
NCBI chr10:85,707,457...85,741,539
Ensembl chr10:89,217,949...89,243,612
G
FCGR2B
Fc gamma receptor IIb
ISO
RGD
PMID:15681388
RGD:7240529
NCBI chr 1:137,074,342...137,090,962
Ensembl chr 1:140,882,043...140,890,637
G
FCGR3A
Fc gamma receptor IIIa
susceptibility
ISO
DNA:SNP:cds:p.V158F (human)
RGD
PMID:17596285
RGD:5508454
NCBI chr 1:137,027,943...137,036,738
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IFNG
interferon gamma
ISO
protein:increased expression:serum,urine CTD Direct Evidence: marker/mechanism protein:increased processing:kidney
RGD CTD
PMID:22764573 PMID:29925830 PMID:31182691
RGD:14974252 RGD:6893369
NCBI chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829
G
IL17A
interleukin 17A
treatment
ISO
RGD
PMID:25129462
RGD:9244623
NCBI chr 6:51,736,269...51,740,538
Ensembl chr 6:53,004,820...53,009,074
G
IL18
interleukin 18
ISO
RGD
PMID:20980973
RGD:6893449
NCBI chr11:107,024,376...107,045,194
Ensembl chr11:110,867,586...110,888,371
G
IL1B
interleukin 1 beta
ISO
mRNA:increased expression:renal glomerulus (mouse)
RGD
PMID:20410215 PMID:21641991
RGD:7175315 RGD:7175344
NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424
G
IL1RN
interleukin 1 receptor antagonist
resistance
ISO
associated with Lupus Erythematosus, Systemic; protein:increased expression:serum (human)
RGD
PMID:20538031
RGD:6907068
NCBI chr2A:88,991,646...89,008,013
Ensembl chr2A:114,061,182...114,078,839
G
ITGAM
integrin subunit alpha M
ISO
RGD
PMID:21719445
RGD:5147916
NCBI chr16:23,634,476...23,707,147
Ensembl chr16:31,630,146...31,702,406
G
JAK1
Janus kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31182691
NCBI chr 1:64,083,562...64,315,909
Ensembl chr 1:65,973,904...66,024,991
G
KLKB1
kallikrein B1
susceptibility
ISO
DNA:SNPs:promoter:
RGD
PMID:19307730
RGD:7327150
NCBI chr 4:178,398,359...178,429,448
Ensembl chr 4:190,604,901...190,636,300
G
LOC100991644
low affinity immunoglobulin gamma Fc region receptor II-a
ISO
ClinVar Annotator: match by term: Lupus nephritis, susceptibility to
ClinVar
PMID:8636449 PMID:9843982 PMID:10675363 PMID:15367919 PMID:19915573 PMID:19965803 PMID:24033266 PMID:25741868 More...
NCBI chr 1:136,892,311...136,906,450
G
MBL2
mannose binding lectin 2
disease_progression
ISO
DNA:polymorphism:exon:
RGD
PMID:24850777
RGD:12910847
NCBI chr10:49,401,364...49,409,328
Ensembl chr10:51,527,758...51,543,432
G
MMP2
matrix metallopeptidase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22479529
NCBI chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279
G
MMP9
matrix metallopeptidase 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22479529
NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129
G
MPO
myeloperoxidase
susceptibility
ISO
DNA:polymorphism: :−463G > A (human)
RGD
PMID:17896805
RGD:7174701
NCBI chr17:52,333,882...52,357,838
Ensembl chr17:57,201,073...57,212,111
G
MTOR
mechanistic target of rapamycin kinase
ISO
RGD
PMID:17283580
RGD:7245502
NCBI chr 1:9,871,700...10,028,704
Ensembl chr 1:11,093,765...11,249,841
G
NR3C1
nuclear receptor subfamily 3 group C member 1
ISO
RGD
PMID:17880936 PMID:21509671
RGD:7174713 RGD:7174734
NCBI chr 5:138,634,278...139,089,171
Ensembl chr 5:144,741,452...144,865,269
G
OTUB1
OTU deubiquitinase, ubiquitin aldehyde binding 1
ISO
protein:increased expression:kidney
RGD
PMID:22279542
RGD:7175260
NCBI chr11:59,342,820...59,355,386
Ensembl chr11:62,690,542...62,706,542
G
PDCD1
programmed cell death 1
onset
ISO
DNA:polymorphism:intron:6867 C>T (human) DNA:polymorphism: :
RGD
PMID:15352422 PMID:15934088 PMID:21041733
RGD:7248675 RGD:7248676 RGD:7248678
NCBI chr12:130,849,353...130,858,776
G
SELL
selectin L
ISO
RGD
PMID:20512127
RGD:7175284
NCBI chr 1:145,173,700...145,194,927
Ensembl chr 1:148,895,373...148,916,393
G
SERPING1
serpin family G member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:4014294
NCBI chr11:52,838,502...52,855,781
Ensembl chr11:56,309,686...56,326,639
G
SNRPE
small nuclear ribonucleoprotein polypeptide E
treatment
ISO
mouse model
RGD
PMID:15494537
RGD:10760401
NCBI chr 1:179,466,263...179,474,779
Ensembl chr 1:183,755,392...183,764,937
G
STAT1
signal transducer and activator of transcription 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31182691
NCBI chr2B:78,270,642...78,316,074
Ensembl chr2B:196,186,906...196,232,280
G
STAT4
signal transducer and activator of transcription 4
ISO
RGD
PMID:20980973
RGD:6893449
NCBI chr2B:78,331,402...78,549,231
Ensembl chr2B:196,247,881...196,366,011
G
STAT6
signal transducer and activator of transcription 6
disease_progression
ISO
RGD
PMID:12874250
RGD:7244140
Ensembl chr12:32,068,679...32,085,099
G
TLR7
toll like receptor 7
ISO
RGD
PMID:19944565
RGD:7246905
NCBI chr X:5,479,247...5,504,810
Ensembl chr X:12,767,981...12,790,517
G
TNF
tumor necrosis factor
ISO
protein:increased expression:glomerular mesangial cell
RGD
PMID:7750940
RGD:7394786
NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
G
TNFRSF11B
TNF receptor superfamily member 11b
ISO
associated with Lupus Erythematosus, Systemic;protein:increased expression:urine
RGD
PMID:21691937
RGD:7205483
NCBI chr 8:115,614,778...115,643,387
Ensembl chr 8:118,134,305...118,162,422
G
TNFRSF1A
TNF receptor superfamily member 1A
severity
ISO
RGD
PMID:10906156 PMID:19201910
RGD:7245569 RGD:7245572
NCBI chr12:6,457,617...6,470,969
Ensembl chr12:6,374,257...6,387,613
G
TNFRSF1B
TNF receptor superfamily member 1B
treatment
ISO
RGD
PMID:22674120 PMID:22846145
RGD:7245541 RGD:7245544
NCBI chr 1:10,915,743...10,957,765
Ensembl chr 1:12,130,663...12,172,646
G
VCAM1
vascular cell adhesion molecule 1
severity
ISO
protein:increased expression:urine
RGD
PMID:22788914
RGD:7241032
NCBI chr 1:103,377,815...103,395,118
Ensembl chr 1:102,091,336...102,107,732
G
ALB
albumin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1556257
NCBI chr 4:50,773,244...50,790,474
Ensembl chr 4:56,605,322...56,622,418
G
ANGPT2
angiopoietin 2
ISO
protein:increased expression:glomerulus (rat)
RGD
PMID:16014048 PMID:18272601
RGD:2314193 RGD:2314222
NCBI chr 8:718,367...782,534
Ensembl chr 8:6,506,014...6,566,915
G
C1QA
complement C1q A chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8840296
NCBI chr 1:21,821,927...21,825,020
G
C3
complement C3
ISO
ClinVar Annotator: match by term: Mesangiocapillary glomerulonephritis
ClinVar
PMID:32581362
NCBI chr19:5,708,211...5,753,178
Ensembl chr19:6,629,287...6,674,699
G
CCL2
C-C motif chemokine ligand 2
treatment
ISO
RGD
PMID:10411686
RGD:8549648
NCBI chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384
G
CCN2
cellular communication network factor 2
ISO
protein:increased expression:kidney, glomerulus (rat)
RGD
PMID:15172885
RGD:1601118
NCBI chr 6:129,729,572...129,733,113
Ensembl chr 6:133,836,319...133,842,077
G
CCR6
C-C motif chemokine receptor 6
treatment
ISO
RGD
PMID:23192593
RGD:7483632
NCBI chr 6:165,094,563...165,109,774
Ensembl chr 6:170,069,689...170,084,779
G
CDK2
cyclin dependent kinase 2
ISO
RGD
PMID:17893107
RGD:2293563
NCBI chr12:32,940,225...32,946,236
Ensembl chr12:33,189,934...33,195,945
G
CDKN1B
cyclin dependent kinase inhibitor 1B
ISO
protein:decreased expression:kidney
RGD
PMID:16787597
RGD:2293620
NCBI chr12:12,742,258...12,747,404
Ensembl chr12:13,120,306...13,125,541
G
CFB
complement factor B
ISO
RGD
PMID:2329415 PMID:12091909
RGD:7242760 RGD:734771
NCBI chr 6:31,606,716...31,612,782
G
CFH
complement factor H
ISO
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
ClinVar
PMID:21415311 PMID:22223606 PMID:22403278 PMID:25741868 PMID:28492532 PMID:32581362 PMID:34189567 PMID:34508573 More...
NCBI chr 1:172,155,882...172,251,632
Ensembl chr 1:176,455,247...176,525,521
G
CFHR5
complement factor H related 5
ISO
ClinVar Annotator: match by term: Mesangiocapillary glomerulonephritis, type II
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:172,541,948...172,574,591
Ensembl chr 1:176,876,635...176,908,723
G
CFI
complement factor I
ISO
RGD
PMID:18202746
RGD:6906892
NCBI chr 4:102,236,868...102,311,359
Ensembl chr 4:112,804,645...112,865,581
G
CXCR1
C-X-C motif chemokine receptor 1
ISO
RGD
PMID:23336303
RGD:7207859
NCBI chr2B:105,429,576...105,433,243
Ensembl chr2B:224,028,838...224,029,890
G
EDN1
endothelin 1
treatment
ISO
mRNA, protein:increased expression:glomerulus (rat)
RGD
PMID:8569091 PMID:11601021
RGD:4144848 RGD:8662296
NCBI chr 6:12,076,312...12,142,861
Ensembl chr 6:12,462,718...12,503,545
G
EP300
E1A binding protein p300
treatment
ISO
RGD
PMID:24344329
RGD:9588308
NCBI chr22:21,986,467...22,076,921
Ensembl chr22:40,079,503...40,168,604
G
F5
coagulation factor V
ISO
RGD
PMID:15172885
RGD:1601118
NCBI chr 1:144,996,757...145,070,046
Ensembl chr 1:148,718,897...148,790,915
G
FN1
fibronectin 1
ISO
RGD
PMID:10082755
RGD:7206847
NCBI chr2B:102,623,568...102,698,747
Ensembl chr2B:221,208,431...221,284,003
G
IL1B
interleukin 1 beta
ISO
RGD
PMID:21871881
RGD:7175308
NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424
G
KCNT2
potassium sodium-activated channel subfamily T member 2
ISO
ClinVar Annotator: match by term: Mesangiocapillary glomerulonephritis
ClinVar
PMID:32581362
NCBI chr 1:171,722,130...172,112,927
Ensembl chr 1:176,003,920...176,390,592
G
LOC117976634
complement factor H-related protein 2
ISO
ClinVar Annotator: match by term: Non-immunoglobulin-mediated membranoproliferative glomerulonephritis
ClinVar
PMID:25741868 PMID:28492532 PMID:29093712 PMID:34260947
NCBI chr 1:172,481,728...172,522,715
G
MYOC
myocilin
ISO
protein:increased expression:renal glomerulus (rat)
RGD
PMID:15610237
RGD:7401266
NCBI chr 1:147,128,541...147,146,227
Ensembl chr 1:150,841,630...150,858,628
G
PFN1
profilin 1
ISO
RGD
PMID:8651905
RGD:729497
NCBI chr17:4,993,853...4,996,811
Ensembl chr17:4,981,765...4,985,022
G
PON1
paraoxonase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16175651
NCBI chr 7:87,253,476...87,279,650
Ensembl chr 7:100,841,286...100,867,493
G
PRF1
perforin 1
ISO
mRNA:increased expression:glomerulus
RGD
PMID:10886554
RGD:1599935
NCBI chr10:67,071,141...67,078,057
Ensembl chr10:69,597,574...69,603,070
G
SPARC
secreted protein acidic and cysteine rich
ISO
mRNA:increased expression:glomerulus
RGD
PMID:8644857
RGD:2300070
NCBI chr 5:147,087,903...147,112,466
Ensembl chr 5:153,090,181...153,115,750
G
TGFBR2
transforming growth factor beta receptor 2
ISO
RGD
PMID:11703592
RGD:1601601
NCBI chr 3:30,536,187...30,623,653
Ensembl chr 3:30,854,460...30,938,856
G
TLR1
toll like receptor 1
ISO
mRNA:increased expression:renal glomerulus (mouse)
RGD
PMID:18256364
RGD:7246909
NCBI chr 4:33,119,485...33,133,541
Ensembl chr 4:38,979,006...38,981,366
G
TLR2
toll like receptor 2
ISO
mRNA:increased expression:renal glomerulus (mouse)
RGD
PMID:18256364
RGD:7246909
NCBI chr 4:146,024,653...146,091,388
Ensembl chr 4:157,866,977...157,869,331
G
TLR4
toll like receptor 4
ISO
mRNA:increased expression:renal glomerulus (mouse)
RGD
PMID:18256364
RGD:7246909
NCBI chr 9:88,827,495...88,840,458
Ensembl chr 9:117,180,550...117,190,711
G
TLR5
toll like receptor 5
ISO
mRNA:increased expression:renal glomerulus (mouse)
RGD
PMID:18256364
RGD:7246909
NCBI chr 1:198,787,046...198,819,537
Ensembl chr 1:203,798,767...203,801,343
G
TLR6
toll like receptor 6
ISO
mRNA:increased expression:renal glomerulus (mouse)
RGD
PMID:18256364
RGD:7246909
NCBI chr 4:33,153,151...33,174,053
Ensembl chr 4:39,009,103...39,011,490
G
TLR7
toll like receptor 7
ISO
mRNA:increased expression:renal glomerulus (mouse)
RGD
PMID:18256364
RGD:7246909
NCBI chr X:5,479,247...5,504,810
Ensembl chr X:12,767,981...12,790,517
G
TLR8
toll like receptor 8
ISO
mRNA:increased expression:renal glomerulus (mouse)
RGD
PMID:18256364
RGD:7246909
NCBI chr X:5,518,742...5,535,304
G
TSLP
thymic stromal lymphopoietin
ISO
CTD Direct Evidence: marker/mechanism OMIM:305800
CTD MouseDO
PMID:17686814
NCBI chr 5:106,440,136...106,446,849
Ensembl chr 5:112,242,490...112,250,130
G
ABCA1
ATP binding cassette subfamily A member 1
ISO
RGD
PMID:12507911
RGD:1598547
NCBI chr 9:75,948,831...76,096,136
Ensembl chr 9:104,076,516...104,224,188
G
ALB
albumin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1342223 PMID:9794552 PMID:11938814 PMID:12776520 PMID:15385633 PMID:17622271 More...
NCBI chr 4:50,773,244...50,790,474
Ensembl chr 4:56,605,322...56,622,418
G
APOA1
apolipoprotein A1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7900854
NCBI chr11:111,673,539...111,675,428
Ensembl chr11:115,606,136...115,608,122
G
APOE
apolipoprotein E
ISO
protein:increased expression:serum (rat)
RGD
PMID:22785171
RGD:6903854
NCBI chr19:41,853,669...41,857,252
Ensembl chr19:50,459,906...50,463,490
G
C3
complement C3
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:10729746 PMID:25954969
RGD:5129563
NCBI chr19:5,708,211...5,753,178
Ensembl chr19:6,629,287...6,674,699
G
C7
complement C7
ISO
RGD
PMID:6241952
RGD:1599528
NCBI chr 5:69,405,041...69,478,445
Ensembl chr 5:74,447,559...74,520,649
G
CD40
CD40 molecule
treatment
ISO
RGD
PMID:23223173
RGD:8547786
NCBI chr20:42,455,711...42,467,139
Ensembl chr20:43,541,619...43,552,994
G
CD40LG
CD40 ligand
treatment
ISO
associated with Lupus Erythematosus, Systemic
RGD
PMID:7564113 PMID:17911451
RGD:7248430 RGD:7248720
NCBI chr X:125,776,138...125,788,820
Ensembl chr X:136,042,849...136,058,202
G
CDKN1B
cyclin dependent kinase inhibitor 1B
treatment
ISO
RGD
PMID:24583340
RGD:10045363
NCBI chr12:12,742,258...12,747,404
Ensembl chr12:13,120,306...13,125,541
G
CFB
complement factor B
susceptibility
ISO
RGD
PMID:3272818
RGD:7242764
NCBI chr 6:31,606,716...31,612,782
G
CFH
complement factor H
ISO
mRNA, protein:increased expression:glomerulus
RGD
PMID:12911541
RGD:1599888
NCBI chr 1:172,155,882...172,251,632
Ensembl chr 1:176,455,247...176,525,521
G
GAA
alpha glucosidase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15466083
NCBI chr17:74,188,296...74,206,593
Ensembl chr17:79,723,699...79,741,839
G
IL1B
interleukin 1 beta
ISO
RGD
PMID:20588061
RGD:7175342
NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424
G
LOC100979269
alpha-2-macroglobulin
ISO
protein:increased expression:serum
RGD
PMID:9453001
RGD:10046046
NCBI chr12:9,154,457...9,202,833
Ensembl chr12:9,385,359...9,433,979
G
LRP2
LDL receptor related protein 2
ISO
mRNA:decreased expression:glomerulus
RGD
PMID:10919857
RGD:1641827
NCBI chr2B:56,407,871...56,640,471
Ensembl chr2B:173,873,767...174,103,697
G
LRPAP1
LDL receptor related protein associated protein 1
ISO
mRNA, protein:increased expression:glomerulus, epithelial cell
RGD
PMID:7723231 PMID:7778686
RGD:1641936 RGD:1641937
NCBI chr 4:3,663,649...3,683,450
Ensembl chr 4:3,646,179...3,666,098
G
MAP3K5
mitogen-activated protein kinase kinase kinase 5
ISO
protein:increased activity,protein:renal glomerulus:
RGD
PMID:18178252
RGD:10412641
NCBI chr 6:134,316,841...134,582,843
Ensembl chr 6:138,406,398...138,641,727
G
MME
membrane metalloendopeptidase
ISO
ClinVar Annotator: match by term: Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization
ClinVar
PMID:15464186 PMID:24033266 PMID:25565308 PMID:25741868 PMID:26991897 PMID:27588448 PMID:28492532 PMID:30415211 More...
NCBI chr 3:152,085,694...152,240,148
Ensembl chr 3:160,197,566...160,292,119
G
MMP9
matrix metallopeptidase 9
ISO
RGD
PMID:8613533
RGD:8547919
NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129
G
NPHS1
NPHS1 adhesion molecule, nephrin
ISO
RGD
PMID:15882266
RGD:1598706
NCBI chr19:32,742,802...32,770,600
Ensembl chr19:41,492,444...41,518,471
G
NPHS2
NPHS2 stomatin family member, podocin
ISO
RGD
PMID:15882266
RGD:1598706
NCBI chr 1:155,038,753...155,064,332
G
NQO1
NAD(P)H quinone dehydrogenase 1
treatment
ISO
RGD
PMID:28711658
RGD:13439719
NCBI chr16:50,090,696...50,106,495
Ensembl chr16:69,470,288...69,489,731
G
PTGER3
prostaglandin E receptor 3
ISO
mRNA:increased expression:renal cortex (rat)
RGD
PMID:14636300
RGD:10043359
NCBI chr 1:70,076,610...70,271,475
Ensembl chr 1:72,059,441...72,254,063
G
PTPRU
protein tyrosine phosphatase receptor type U
ISO
mRNA, protein:decreased expression:glomerulus
RGD
PMID:17457373
RGD:1642654
NCBI chr 1:28,507,078...28,597,154
Ensembl chr 1:29,551,912...29,622,104
G
RHOA
ras homolog family member A
ISO
protein:increased activity:epithelial cell
RGD
PMID:17376765
RGD:1642963
NCBI chr 3:49,282,009...49,339,887
G
SHH
sonic hedgehog signaling molecule
ISO
RGD
PMID:24744439
RGD:12859042
NCBI chr 7:147,400,112...147,414,036
Ensembl chr 7:159,114,666...159,126,651
G
SPARC
secreted protein acidic and cysteine rich
ISO
protein:increased expression:kidney
RGD
PMID:8943481
RGD:2300069
NCBI chr 5:147,087,903...147,112,466
Ensembl chr 5:153,090,181...153,115,750
G
TBXAS1
thromboxane A synthase 1
ISO
RGD
PMID:8982653
RGD:1601473
NCBI chr 7:131,772,947...131,958,647
Ensembl chr 7:144,255,211...144,439,523
G
TF
transferrin
ISO
associated with Lupus Erythematosus, Systemic
RGD
PMID:22328173
RGD:7244198
NCBI chr 3:130,799,063...130,830,227
Ensembl chr 3:138,274,159...138,305,476
G
TSLP
thymic stromal lymphopoietin
treatment
ISO
RGD
PMID:11920357
RGD:38549592
NCBI chr 5:106,440,136...106,446,849
Ensembl chr 5:112,242,490...112,250,130
G
FBN1
fibrillin 1
ISO
mRNA:increased expression:cortex of kidney
RGD
PMID:25482639
RGD:12910487
NCBI chr15:27,358,780...27,593,539
Ensembl chr15:45,682,450...45,918,111
G
FGFR1
fibroblast growth factor receptor 1
ISO
mRNA:increased expression:mesangial cell
RGD
PMID:10592054
RGD:10402100
NCBI chr 8:37,713,133...37,773,098
Ensembl chr 8:34,890,147...34,948,904
G
GADD45G
growth arrest and DNA damage inducible gamma
ISO
mRNA,protein:increased expression:kidney
RGD
PMID:16736195
RGD:14700866
NCBI chr 9:60,695,307...60,696,860
Ensembl chr 9:88,740,411...88,741,958
G
ITGA8
integrin subunit alpha 8
ISO
mRNA:increased expression:cortex of kidney
RGD
PMID:25482639
RGD:12910487
NCBI chr10:15,838,320...16,045,206
Ensembl chr10:16,114,999...16,321,360
G
ITGAM
integrin subunit alpha M
exacerbates
ISO
RGD
PMID:10623679
RGD:329901927
NCBI chr16:23,634,476...23,707,147
Ensembl chr16:31,630,146...31,702,406
G
NR4A1
nuclear receptor subfamily 4 group A member 1
ISO
mRNA,protein:increased expression:kidney
RGD
PMID:16736195
RGD:14700866
NCBI chr12:36,703,903...36,740,211
Ensembl chr12:37,480,300...37,501,188
G
PDGFD
platelet derived growth factor D
treatment
ISO
mRNA,protein:increased expression:glomerulus,serum:
RGD
PMID:12937299 PMID:17308324
RGD:9854629 RGD:9854637
NCBI chr11:98,852,652...99,110,147
Ensembl chr11:102,357,079...102,593,273
G
RAPGEF1
Rap guanine nucleotide exchange factor 1
ISO
protein:increased expression:renal glomerulus
RGD
PMID:20725139
RGD:11534982
NCBI chr 9:102,698,970...102,861,482
Ensembl chr 9:131,337,001...131,495,664
G
VWF
von Willebrand factor
ISO
protein:increased expression:glomerulus:
RGD
PMID:10450036
RGD:11079208
NCBI chr12:6,073,836...6,249,806
Ensembl chr12:5,990,612...6,165,153
G
ANXA5
annexin A5
ISO
protein:increased expression:urine
RGD
PMID:17999093
RGD:7242031
NCBI chr 4:113,868,218...113,897,243
Ensembl chr 4:125,006,038...125,034,972
G
AVIL
advillin
ISO
ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome
ClinVar
PMID:25741868 PMID:29058690
NCBI chr12:31,108,569...31,129,307
Ensembl chr12:31,369,872...31,389,847
G
AXDND1
axonemal dynein light chain domain containing 1
ISO
ClinVar Annotator: match by term: Nephrotic syndrome, type 2 | ClinVar Annotator: match by term: Nephrotic syndrome, type 2, susceptibility to | ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome
ClinVar
PMID:8589695 PMID:9536098 PMID:10742096 PMID:11805166 PMID:12464671 PMID:12707396 PMID:14675423 PMID:14701729 PMID:14978175 PMID:15015071 PMID:15253708 PMID:15327385 PMID:15496146 PMID:15769810 PMID:15817495 PMID:16354237 PMID:16898497 PMID:17371932 PMID:17576681 PMID:17699384 PMID:17899208 PMID:18216321 PMID:18443213 PMID:18709391 PMID:18823551 PMID:19145239 PMID:19371226 PMID:19406966 PMID:19876656 PMID:20507940 PMID:20798252 PMID:20947785 PMID:21171529 PMID:21355056 PMID:21415313 PMID:22565185 PMID:22578956 PMID:22763815 PMID:23242530 PMID:23349334 PMID:23515051 PMID:23595123 PMID:23645318 PMID:24033266 PMID:24227627 PMID:24413855 PMID:24509478 PMID:24742477 PMID:24856380 PMID:25349199 PMID:25525159 PMID:25720465 PMID:25741868 PMID:26211502 PMID:26413278 PMID:26420286 PMID:26455708 PMID:26467025 PMID:26594346 PMID:26668027 PMID:28117080 PMID:28476686 PMID:28492532 PMID:28658201 PMID:28780565 PMID:29382718 PMID:29644057 PMID:29660491 PMID:29982877 PMID:30013592 PMID:30260545 PMID:30295827 PMID:30348286 PMID:30406062 PMID:30450462 PMID:30655312 PMID:31027891 PMID:31308032 PMID:32581362 PMID:32604935 PMID:33102883 PMID:33193607 PMID:33305316 PMID:33532864 PMID:35368817 PMID:36167728 PMID:36239278 More...
NCBI chr 1:154,847,978...155,043,339
Ensembl chr 1:158,536,967...158,724,251
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COL4A3
collagen type IV alpha 3 chain
ISO
ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome
ClinVar
PMID:25741868
NCBI chr2B:114,410,703...114,559,336
Ensembl chr2B:233,294,783...233,371,021
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COL4A4
collagen type IV alpha 4 chain
ISO
ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome
ClinVar
PMID:25741868 PMID:28492532
NCBI chr2B:114,227,135...114,410,564
Ensembl chr2B:233,065,678...233,205,892
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COL4A5
collagen type IV alpha 5 chain
ISO
ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome
ClinVar
PMID:32581362
NCBI chr X:97,538,978...97,797,019
Ensembl chr X:108,008,689...108,166,095
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CRB2
crumbs cell polarity complex component 2
ISO
ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome
ClinVar
PMID:25557779 PMID:25741868 PMID:27004616 PMID:27942854 PMID:28492532 PMID:30212996 PMID:32581362 More...
NCBI chr 9:94,473,423...94,511,285
Ensembl chr 9:123,011,968...123,032,855
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FAT1
FAT atypical cadherin 1
ISO
ClinVar Annotator: match by term: Familial idiopathic steroid-resistant nephrotic syndrome
ClinVar
PMID:25615407 PMID:25741868 PMID:26905694 PMID:30862798
NCBI chr 4:178,752,261...178,895,038
Ensembl chr 4:190,952,737...191,093,357
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NPHS2
NPHS2 stomatin family member, podocin
ISO
ClinVar Annotator: match by term: NPHS2-related condition | ClinVar Annotator: match by term: Nephrotic syndrome, type 2 | ClinVar Annotator: match by term: Nephrotic syndrome, type 2, susceptibility to | ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome
OMIM ClinVar
PMID:1523708 PMID:8589695 PMID:8606597 PMID:9536098 PMID:10742096 PMID:11729243 PMID:11733557 PMID:11805166 PMID:11805168 PMID:11854170 PMID: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:27885584 PMID:28117080 PMID:28204945 PMID:28385484 PMID:28476686 PMID:28492532 PMID:28529802 PMID:28658201 PMID:28712774 PMID:28780565 PMID:29049388 PMID:29127259 PMID:29382718 PMID:29644057 PMID:29660491 PMID:29869118 PMID:29982877 PMID:30013592 PMID:30241959 PMID:30260545 PMID:30295827 PMID:30348286 PMID:30406062 PMID:30450462 PMID:30609409 PMID:30655312 PMID:30721404 PMID:31027891 PMID:31308032 PMID:31738409 PMID:32129207 PMID:32467597 PMID:32581362 PMID:32604935 PMID:33102883 PMID:33193607 PMID:33305316 PMID:33428103 PMID:33532864 PMID:33980730 PMID:34031707 PMID:34405919 PMID:34853150 PMID:35368817 PMID:36167728 PMID:36239278 More...
NCBI chr 1:155,038,753...155,064,332
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NR3C1
nuclear receptor subfamily 3 group C member 1
ISO
mRNA:alternative form:blood, mononuclear cell
RGD
PMID:20419394
RGD:7174729
NCBI chr 5:138,634,278...139,089,171
Ensembl chr 5:144,741,452...144,865,269
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NUP205
nucleoporin 205
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26878725
NCBI chr 7:127,525,777...127,620,680
Ensembl chr 7:140,037,092...140,118,983
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NUP93
nucleoporin 93
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26878725
NCBI chr16:37,007,481...37,122,785
Ensembl chr16:56,140,546...56,255,561
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PAX2
paired box 2
ISO
ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome
ClinVar
PMID:3377002 PMID:8589702 PMID:9106533 PMID:11093271 PMID:11241473 PMID:11461952 PMID:22213154 PMID:22350371 PMID:24429398 PMID:24676634 PMID:25741868 PMID:27226968 PMID:28492532 PMID:31001663 PMID:32203253 PMID:33532864 PMID:34696790 PMID:35444690 More...
NCBI chr10:97,344,978...97,429,086
Ensembl chr10:100,822,676...100,904,028
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PLA2G7
phospholipase A2 group VII
disease_progression
ISO
RGD
PMID:9853251
RGD:7248793
NCBI chr 6:46,264,262...46,318,487
Ensembl chr 6:47,558,861...47,590,212
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PLCE1
phospholipase C epsilon 1
ISO
DNA:mutations: :
RGD
PMID:20591883
RGD:7257521
NCBI chr10:90,731,695...91,065,846
Ensembl chr10:94,278,550...94,575,024
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SMARCAL1
SNF2 related chromatin remodeling annealing helicase 1
ISO
ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome
ClinVar
PMID:11799392 PMID:15880370 PMID:16840568 PMID:17089404 PMID:18805831 PMID:19127206 PMID:20301550 PMID:21914180 PMID:22998683 PMID:24589093 PMID:25741868 PMID:26499378 PMID:28492532 PMID:28796785 PMID:29127259 More...
NCBI chr2B:103,672,934...103,743,802
Ensembl chr2B:222,276,353...222,347,258
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TRPC6
transient receptor potential cation channel subfamily C member 6
ISO
DNA:missense mutations, SNPs:exon, intron:multiple
RGD
PMID:21511817
RGD:7247446
NCBI chr11:96,414,498...96,551,670
Ensembl chr11:99,919,410...100,050,685
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TSFM
Ts translation elongation factor, mitochondrial
ISO
ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome
ClinVar
PMID:25741868 PMID:29058690
NCBI chr12:31,123,500...31,154,310
Ensembl chr12:31,404,783...31,415,595 Ensembl chr12:31,404,783...31,415,595
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WT1
WT1 transcription factor
ISO
ClinVar Annotator: match by term: Familial idiopathic steroid-resistant nephrotic syndrome | ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome
ClinVar
PMID:1302008 PMID:1327525 PMID:1338906 PMID:1655284 PMID:1658787 PMID:6307071 PMID:7795587 PMID:8295405 PMID:9090524 PMID:9398852 PMID:9475094 PMID:9499425 PMID:9529364 PMID:9536098 PMID:9607189 PMID:10094551 PMID:10470095 PMID:10505699 PMID:10505700 PMID:10561752 PMID:10670748 PMID:10762296 PMID:10792605 PMID:11007843 PMID:11182928 PMID:12050205 PMID:12970737 PMID:15150775 PMID:15509792 PMID:16439601 PMID:17496156 PMID:17541636 PMID:17576681 PMID:17694336 PMID:17853480 PMID:19484379 PMID:20442690 PMID:21499692 PMID:22099579 PMID:22815844 PMID:22908070 PMID:23295293 PMID:23302619 PMID:23497137 PMID:23515051 PMID:23715653 PMID:23935527 PMID:24033266 PMID:24161391 PMID:24856380 PMID:25501161 PMID:25623218 PMID:25741868 PMID:25813279 PMID:25818337 PMID:26069768 PMID:26467025 PMID:27013732 PMID:27719739 PMID:27899157 PMID:28204945 PMID:28492532 PMID:28780565 PMID:29668062 PMID:30406062 PMID:30655312 PMID:32352694 PMID:32581362 PMID:34622098 PMID:35211794 PMID:35904974 PMID:36980135 More...
NCBI chr11:32,349,807...32,398,494
Ensembl chr11:32,238,720...32,287,249
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XPO5
exportin 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26878725
NCBI chr 6:43,114,408...43,168,113
Ensembl chr 6:44,406,765...44,458,029
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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 chr17:50,912,079...50,946,655
Ensembl chr17:55,773,896...55,802,485
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LMX1B
LIM homeobox transcription factor 1 beta
ISO
ClinVar Annotator: match by term: Focal Segmental Glomerulosclerosis 10 | ClinVar Annotator: match by term: Nail-patella-like renal disease
OMIM ClinVar
PMID:23687361 PMID:24042019 PMID:25741868 PMID:26560070 PMID:28059119 PMID:28492532 PMID:29127259 PMID:32356190 PMID:32581362 PMID:32791958 PMID:33532864 More...
NCBI chr 9:97,730,850...97,820,554
Ensembl chr 9:126,240,722...126,322,420
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