RGD DISEASE ONTOLOGY - ANNOTATIONS |
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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 |
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ISO |
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RGD |
PMID:19164508 |
RGD:2325229 |
NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380
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ADM |
adrenomedullin |
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ISO EXP |
CTD Direct Evidence: marker/mechanism associated with Anti-Glomerular Basement Membrane Disease |
CTD RGD |
PMID:15063164 PMID:15680492 PMID:20431304 PMID:16735801 |
RGD:2325320, RGD:1625317 |
NCBI chr11:10,305,073...10,307,397
Ensembl chr11:10,305,073...10,307,397
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AGT |
angiotensinogen |
disease_progression |
ISO EXP |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:11459117 PMID:15888567 |
RGD:13432360 |
NCBI chr 1:230,702,523...230,745,583
Ensembl chr 1:230,690,776...230,745,576
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AGTR2 |
angiotensin II receptor type 2 |
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ISO |
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RGD |
PMID:19139720 |
RGD:6903845 |
NCBI chr X:116,170,744...116,174,974
Ensembl chr X:116,170,744...116,174,974
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AIF1 |
allograft inflammatory factor 1 |
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ISO |
protein:increased expression:kidney (rat) |
RGD |
PMID:17035944 |
RGD:2313038 |
NCBI chr 6:31,615,234...31,617,015
Ensembl chr 6:31,615,217...31,617,021
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ALB |
albumin |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:3160244 PMID:6343549 PMID:6769622 PMID:8501856 PMID:17161813 PMID:17464766 PMID:18462998 PMID:19524415 More...
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NCBI chr 4:73,404,287...73,421,482
Ensembl chr 4:73,397,114...73,421,482
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ALOX15 |
arachidonate 15-lipoxygenase |
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ISO |
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RGD |
PMID:7967345 |
RGD:5128564 |
NCBI chr17:4,630,919...4,641,678
Ensembl chr17:4,630,919...4,642,294
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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 chr13:30,713,485...30,764,426
Ensembl chr13:30,713,478...30,764,426
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ANXA5 |
annexin A5 |
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ISO |
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RGD |
PMID:11271515 |
RGD:7241853 |
NCBI chr 4:121,667,946...121,696,980
Ensembl chr 4:121,667,946...121,696,995
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APOE |
apolipoprotein E |
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ISO |
Apoe(-/-) Id3(-/-) double knockout |
RGD |
PMID:21801865 |
RGD:6903286 |
NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393
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APOL1 |
apolipoprotein L1 |
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IAGP |
ClinVar Annotator: match by term: Glomerulonephritis |
ClinVar |
PMID:20635188 PMID:20647424 PMID:20668430 PMID:21997394 PMID:24033266 PMID:24206458 PMID:25741868 PMID:25788523 PMID:28492532 PMID:30332315 PMID:30340464 PMID:32581362 PMID:32675303 More...
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NCBI chr22:36,253,133...36,267,525
Ensembl chr22:36,253,071...36,267,530
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AXL |
AXL receptor tyrosine kinase |
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ISO |
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RGD |
PMID:11290560 |
RGD:1579882 |
NCBI chr19:41,219,223...41,261,766
Ensembl chr19:41,219,223...41,261,766
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BCL2L11 |
BCL2 like 11 |
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ISO |
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RGD |
PMID:10576740 |
RGD:734641 |
NCBI chr 2:111,120,914...111,168,445
Ensembl chr 2:111,119,378...111,168,444
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BDKRB1 |
bradykinin receptor B1 |
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IEP |
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RGD |
PMID:20448019 |
RGD:7241551 |
NCBI chr14:96,256,210...96,264,763
Ensembl chr14:96,256,210...96,268,967
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C1QA |
complement C1q A chain |
susceptibility |
IAGP |
DNA:nonsense mutation (human) |
RGD |
PMID:8840296 |
RGD:1600549 |
NCBI chr 1:22,636,463...22,639,678
Ensembl chr 1:22,635,077...22,639,678
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C3 |
complement C3 |
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ISO |
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RGD |
PMID:11950907 |
RGD:5129550 |
NCBI chr19:6,677,704...6,720,650
Ensembl chr19:6,677,704...6,730,562
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C6 |
complement C6 |
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ISO |
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RGD |
PMID:10807586 |
RGD:1600489 |
NCBI chr 5:41,142,116...41,261,469
Ensembl chr 5:41,142,116...41,261,438
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CCL1 |
C-C motif chemokine ligand 1 |
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ISO EXP |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:10385480 PMID:11157384 |
RGD:8693624 |
NCBI chr17:34,360,328...34,363,233
Ensembl chr17:34,360,328...34,363,233
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CCL2 |
C-C motif chemokine ligand 2 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10385480 |
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NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208
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CCL3 |
C-C motif chemokine ligand 3 |
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ISO EXP |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:10385480 PMID:18941245 |
RGD:7241804 |
NCBI chr17:36,088,256...36,090,143
Ensembl chr17:36,088,256...36,090,169
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CCL4 |
C-C motif chemokine ligand 4 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10385480 |
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NCBI chr17:36,103,827...36,105,614
Ensembl chr17:36,103,827...36,105,621
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CCL5 |
C-C motif chemokine ligand 5 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10385480 |
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NCBI chr17:35,871,491...35,880,360
Ensembl chr17:35,871,491...35,880,793
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CCL7 |
C-C motif chemokine ligand 7 |
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ISO EXP |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:10385480 PMID:11157384 |
RGD:8693624 |
NCBI chr17:34,270,221...34,272,242
Ensembl chr17:34,270,221...34,272,242
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CD163 |
CD163 molecule |
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IEP |
associated with liver disease;protein:increased expression:blood serum (human) |
RGD |
PMID:26339412 |
RGD:11251207 |
NCBI chr12:7,470,811...7,503,777
Ensembl chr12:7,470,811...7,503,893
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CD59 |
CD59 molecule (CD59 blood group) |
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ISO |
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RGD |
PMID:7523753 |
RGD:1600500 |
NCBI chr11:33,703,010...33,736,479
Ensembl chr11:33,703,010...33,736,479
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CFD |
complement factor D |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:14675043 |
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NCBI chr19:859,664...863,641
Ensembl chr19:859,453...867,884
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CFH |
complement factor H |
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ISO |
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RGD |
PMID:17344423 |
RGD:7365002 |
NCBI chr 1:196,652,043...196,747,504
Ensembl chr 1:196,651,754...196,752,476
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CFI |
complement factor I |
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ISS |
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MouseDO |
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NCBI chr 4:109,730,982...109,801,999
Ensembl chr 4:109,731,008...109,802,150
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CNDP1 |
carnosine dipeptidase 1 |
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IAGP |
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RGD |
PMID:20851293 |
RGD:7207223 |
NCBI chr18:74,534,500...74,587,212
Ensembl chr18:74,534,500...74,587,212
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COL4A3 |
collagen type IV alpha 3 chain |
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ISO |
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RGD |
PMID:11158397 |
RGD:1600928 |
NCBI chr 2:227,164,624...227,314,792
Ensembl chr 2:227,164,624...227,314,792
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COL4A4 |
collagen type IV alpha 4 chain |
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IAGP |
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...
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NCBI chr 2:226,967,360...227,164,488
Ensembl chr 2:227,002,714...227,164,453
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CPB2 |
carboxypeptidase B2 |
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ISO |
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RGD |
PMID:18612543 |
RGD:7243117 |
NCBI chr13:46,053,186...46,105,033
Ensembl chr13:46,053,186...46,105,033
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CSF1 |
colony stimulating factor 1 |
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IEP |
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RGD |
PMID:11477167 |
RGD:7257579 |
NCBI chr 1:109,910,506...109,930,992
Ensembl chr 1:109,910,242...109,930,992
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CX3CL1 |
C-X3-C motif chemokine ligand 1 |
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ISO |
mRNA, protein:increased expression:glomerulus, urine |
RGD |
PMID:14605272 |
RGD:4891995 |
NCBI chr16:57,372,490...57,385,044
Ensembl chr16:57,372,477...57,385,044
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CX3CR1 |
C-X3-C motif chemokine receptor 1 |
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ISO |
mRNA:increased expression:glomerulus |
RGD |
PMID:14605272 PMID:10432400 |
RGD:4891995, RGD:4892027 |
NCBI chr 3:39,263,494...39,292,966
Ensembl chr 3:39,263,495...39,281,735
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CXCL8 |
C-X-C motif chemokine ligand 8 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9403216 PMID:10910440 |
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NCBI chr 4:73,740,569...73,743,716
Ensembl chr 4:73,740,519...73,743,716
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CXCR3 |
C-X-C motif chemokine receptor 3 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12517959 |
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NCBI chr X:71,615,919...71,618,511
Ensembl chr X:71,615,916...71,618,511
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DES |
desmin |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20962747 |
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NCBI chr 2:219,418,377...219,426,734
Ensembl chr 2:219,418,377...219,426,735
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ELANE |
elastase, neutrophil expressed |
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ISO |
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RGD |
PMID:19752320 |
RGD:6907051 |
NCBI chr19:852,303...856,243
Ensembl chr19:851,014...856,247
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EP300 |
E1A binding protein p300 |
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IEP |
protein:increased expression:glomerulus, renal tubule (human) |
RGD |
PMID:17125594 |
RGD:7327154 |
NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,510...41,180,077
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ESR1 |
estrogen receptor 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20962747 |
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NCBI chr 6:151,656,672...152,129,619
Ensembl chr 6:151,656,691...152,129,619
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F2 |
coagulation factor II, thrombin |
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IDA IEP |
protein:increased expression;urine |
RGD |
PMID:17519558 PMID:15164604 |
RGD:6893586, RGD:6893593 |
NCBI chr11:46,719,213...46,739,506
Ensembl chr11:46,719,196...46,739,506
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FAS |
Fas cell surface death receptor |
treatment |
ISO EXP |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:21880982 PMID:36999444 PMID:9466307 |
RGD:8686428 |
NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605
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FBN1 |
fibrillin 1 |
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ISO |
mRNA:increased expression:renal cortex, renal glomerulus (rat) mRNA, protein:increased expression:renal glomerulus (rat) |
RGD |
PMID:16395273 PMID:16282705 |
RGD:7365077, RGD:7387262 |
NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721
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FCGR2A |
Fc gamma receptor IIa |
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ISO |
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RGD |
PMID:19050295 |
RGD:5508439 |
NCBI chr 1:161,505,457...161,524,048
Ensembl chr 1:161,505,430...161,524,013
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FCGR2B |
Fc gamma receptor IIb |
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IAGP |
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RGD |
PMID:19640933 |
RGD:5508403 |
NCBI chr 1:161,647,243...161,678,654
Ensembl chr 1:161,663,143...161,678,654
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FCGR3A |
Fc gamma receptor IIIa |
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ISO |
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RGD |
PMID:19050295 |
RGD:5508439 |
NCBI chr 1:161,541,759...161,550,737
Ensembl chr 1:161,541,759...161,550,968
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FN1 |
fibronectin 1 |
disease_progression |
IEP |
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RGD |
PMID:20484935 |
RGD:7206839 |
NCBI chr 2:215,360,865...215,436,068
Ensembl chr 2:215,360,440...215,436,073
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FOS |
Fos proto-oncogene, AP-1 transcription factor subunit |
treatment |
ISO |
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RGD |
PMID:11880336 PMID:31821871 |
RGD:7242278, RGD:405650596 |
NCBI chr14:75,278,828...75,282,230
Ensembl chr14:75,278,826...75,283,190
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GAS6 |
growth arrest specific 6 |
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ISO |
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RGD |
PMID:11290560 |
RGD:1579882 |
NCBI chr13:113,820,549...113,864,076
Ensembl chr13:113,820,549...113,864,076
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GDNF |
glial cell derived neurotrophic factor |
treatment |
IMP |
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RGD |
PMID:22105543 |
RGD:405866361 |
NCBI chr 5:37,812,677...37,840,041
Ensembl chr 5:37,812,677...37,840,041
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GJA5 |
gap junction protein alpha 5 |
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ISO |
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RGD |
PMID:22945766 |
RGD:7207390 |
NCBI chr 1:147,756,199...147,773,351
Ensembl chr 1:147,756,199...147,773,362
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IFNG |
interferon gamma |
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ISO EXP IEP |
CTD Direct Evidence: marker/mechanism associated with kidney transplantation;mRNA:increased expression:kidney |
CTD RGD |
PMID:1825860 PMID:22495297 PMID:21546865 |
RGD:6893377, RGD:6893462 |
NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
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IL10 |
interleukin 10 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10910440 |
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NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
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IL18 |
interleukin 18 |
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EXP |
CTD Direct Evidence: therapeutic |
CTD |
PMID:18462998 |
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NCBI chr11:112,143,260...112,164,094
Ensembl chr11:112,143,251...112,164,096
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IL1A |
interleukin 1 alpha |
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ISO |
associated with Malaria |
RGD |
PMID:10469263 |
RGD:6907108 |
NCBI chr 2:112,773,925...112,784,493
Ensembl chr 2:112,773,925...112,784,493
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IL1B |
interleukin 1 beta |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9403216 PMID:10910440 |
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NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816
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IL1R1 |
interleukin 1 receptor type 1 |
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ISO |
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RGD |
PMID:17500042 |
RGD:7207036 |
NCBI chr 2:102,070,390...102,179,874
Ensembl chr 2:102,064,544...102,179,874
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IL1RN |
interleukin 1 receptor antagonist |
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IDA ISO |
mouse model treated with human protein mRNA:increased expression:kidney (mouse) |
RGD |
PMID:22241891 PMID:21304992 |
RGD:6906885, RGD:6906960 |
NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016
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IL2 |
interleukin 2 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9403216 PMID:10910440 |
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NCBI chr 4:122,451,470...122,456,725
Ensembl chr 4:122,451,470...122,456,725
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IL2RA |
interleukin 2 receptor subunit alpha |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10910440 |
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NCBI chr10:6,010,689...6,062,367
Ensembl chr10:6,010,689...6,062,370
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IL6 |
interleukin 6 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9403216 |
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NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002
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INF2 |
inverted formin 2 |
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IAGP |
ClinVar Annotator: match by term: Glomerulonephritis |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr14:104,681,133...104,722,535
Ensembl chr14:104,681,146...104,722,535
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ITGA3 |
integrin subunit alpha 3 |
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ISO |
protein:decreased expression:glomerulus (rat) |
RGD |
PMID:19662603 |
RGD:2325666 |
NCBI chr17:50,056,110...50,090,481
Ensembl chr17:50,055,968...50,090,481
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ITGAM |
integrin subunit alpha M |
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ISO |
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RGD |
PMID:19752320 |
RGD:6907051 |
NCBI chr16:31,259,975...31,332,877
Ensembl chr16:31,259,967...31,332,892
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ITGB1 |
integrin subunit beta 1 |
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ISO |
protein:decreased expression:glomerulus (rat) |
RGD |
PMID:19662603 |
RGD:2325666 |
NCBI chr10:32,900,318...32,958,230
Ensembl chr10:32,887,273...33,005,792
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ITGB2 |
integrin subunit beta 2 |
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ISO |
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RGD |
PMID:19752320 PMID:15277234 |
RGD:6907051, RGD:6907066 |
NCBI chr21:44,885,953...44,928,815
Ensembl chr21:44,885,953...44,931,989
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ITGB3 |
integrin subunit beta 3 |
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IEP ISO |
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RGD |
PMID:11051455 PMID:8083378 |
RGD:6907411, RGD:6907420 |
NCBI chr17:47,253,827...47,313,743
Ensembl chr17:47,253,827...47,313,743
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JUND |
JunD proto-oncogene, AP-1 transcription factor subunit |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18443593 |
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NCBI chr19:18,279,694...18,281,622
Ensembl chr19:18,279,694...18,281,622
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KLKB1 |
kallikrein B1 |
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IEP |
protein:increased expression:plasma: |
RGD |
PMID:2173275 |
RGD:7327152 |
NCBI chr 4:186,210,853...186,258,471
Ensembl chr 4:186,226,438...186,258,471
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LAMB2 |
laminin subunit beta 2 |
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IAGP |
ClinVar Annotator: match by term: Glomerulonephritis |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 3:49,121,114...49,133,050
Ensembl chr 3:49,121,114...49,133,118
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LTBP1 |
latent transforming growth factor beta binding protein 1 |
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ISO |
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RGD |
PMID:16282705 |
RGD:7387262 |
NCBI chr 2:32,946,953...33,399,509
Ensembl chr 2:32,946,953...33,399,509
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LTC4S |
leukotriene C4 synthase |
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ISO |
protein:altered activity:kidney, cortex (rat) |
RGD |
PMID:7827126 |
RGD:2316641 |
NCBI chr 5:179,793,986...179,796,647
Ensembl chr 5:179,793,980...179,796,647
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MAPK1 |
mitogen-activated protein kinase 1 |
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ISO |
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RGD |
PMID:20203158 |
RGD:7243972 |
NCBI chr22:21,759,657...21,867,680
Ensembl chr22:21,759,657...21,867,680
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MIR100 |
microRNA 100 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25758243 |
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NCBI chr11:122,152,229...122,152,308
Ensembl chr11:122,152,229...122,152,308
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MIR10B |
microRNA 10b |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25758243 |
|
NCBI chr 2:176,150,303...176,150,412
Ensembl chr 2:176,150,303...176,150,412
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G |
MMP3 |
matrix metallopeptidase 3 |
|
IEP ISO |
|
RGD |
PMID:15034162 PMID:23224597 |
RGD:7241253, RGD:8694105 |
NCBI chr11:102,835,801...102,843,609
Ensembl chr11:102,835,801...102,843,609
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G |
MPO |
myeloperoxidase |
disease_progression |
ISO IEP |
|
RGD |
PMID:17267745 PMID:19238910 |
RGD:7174702, RGD:7174705 |
NCBI chr17:58,269,855...58,280,935
Ensembl chr17:58,269,855...58,280,935
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G |
MS4A1 |
membrane spanning 4-domains A1 |
|
ISO |
protein:increased expression:kidney, glomerulus (rat) |
RGD |
PMID:7538648 |
RGD:2316995 |
NCBI chr11:60,455,847...60,470,752
Ensembl chr11:60,455,846...60,470,752
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|
G |
MTHFR |
methylenetetrahydrofolate reductase |
|
IAGP |
DNA:transition:cds:g.677C>T (human) |
RGD |
PMID:22111818 |
RGD:6893468 |
NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455
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G |
MYH9 |
myosin heavy chain 9 |
|
IAGP |
ClinVar Annotator: match by term: Glomerulonephritis |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr22:36,281,280...36,387,967
Ensembl chr22:36,281,280...36,388,010
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|
G |
NGF |
nerve growth factor |
|
IEP EXP |
protein:increased expression:serum CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:24244623 PMID:19169037 |
RGD:7242783 |
NCBI chr 1:115,285,917...115,338,249
Ensembl chr 1:115,285,904...115,338,770
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|
G |
NPHS1 |
NPHS1 adhesion molecule, nephrin |
|
EXP IAGP |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Glomerulonephritis |
CTD ClinVar |
PMID:11337370 PMID:20962747 PMID:25741868 |
|
NCBI chr19:35,825,372...35,852,504
Ensembl chr19:35,825,372...35,869,287
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G |
NPPA |
natriuretic peptide A |
|
IEP |
associated with Streptococcal Infections;protein:increased expression:plasma |
RGD |
PMID:12654066 |
RGD:7248663 |
NCBI chr 1:11,845,709...11,847,783
Ensembl chr 1:11,845,709...11,848,345
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|
G |
PARP1 |
poly(ADP-ribose) polymerase 1 |
severity |
ISO |
|
RGD |
PMID:19454727 |
RGD:5684011 |
NCBI chr 1:226,360,691...226,408,093
Ensembl chr 1:226,360,210...226,408,154
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|
G |
PDGFB |
platelet derived growth factor subunit B |
treatment |
ISO |
|
RGD |
PMID:11316849 |
RGD:10449490 |
NCBI chr22:39,223,359...39,244,982
Ensembl chr22:39,223,359...39,244,982
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G |
PDGFD |
platelet derived growth factor D |
|
ISO |
|
RGD |
PMID:21866094 |
RGD:9854633 |
NCBI chr11:103,907,189...104,164,147
Ensembl chr11:103,907,189...104,164,379
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G |
PLA2G7 |
phospholipase A2 group VII |
|
IEP |
|
RGD |
PMID:8730430 |
RGD:7248794 |
NCBI chr 6:46,704,201...46,735,721
Ensembl chr 6:46,704,201...46,735,693
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G |
PLCE1 |
phospholipase C epsilon 1 |
|
IAGP |
ClinVar Annotator: match by term: Glomerulonephritis |
ClinVar |
PMID:25741868 |
|
NCBI chr10:93,993,931...94,332,823
Ensembl chr10:93,993,931...94,332,823
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G |
POMC |
proopiomelanocortin |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:4368615 PMID:6300362 |
|
NCBI chr 2:25,160,860...25,168,580
Ensembl chr 2:25,160,853...25,168,903
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G |
PPARG |
peroxisome proliferator activated receptor gamma |
|
EXP |
CTD Direct Evidence: therapeutic |
CTD |
PMID:11318962 |
|
NCBI chr 3:12,287,368...12,434,344
Ensembl chr 3:12,287,368...12,434,356
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G |
PRF1 |
perforin 1 |
|
ISO |
|
RGD |
PMID:17622272 |
RGD:6482824 |
NCBI chr10:70,597,348...70,602,741
Ensembl chr10:70,597,348...70,602,759
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G |
PTAFR |
platelet activating factor receptor |
treatment |
ISO |
|
RGD |
PMID:1668710 |
RGD:10041057 |
NCBI chr 1:28,147,166...28,193,856
Ensembl chr 1:28,147,166...28,193,936
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G |
PTK2B |
protein tyrosine kinase 2 beta |
|
IEP |
protein:increased expression:glomerulus |
RGD |
PMID:11774117 |
RGD:729912 |
NCBI chr 8:27,310,506...27,459,391
Ensembl chr 8:27,311,482...27,459,391
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G |
SCGB1A1 |
secretoglobin family 1A member 1 |
|
IDA |
recombinant human SCGB1A1 in "experimental crescentic glomerulonephritis" model (mice) |
RGD |
PMID:18558621 |
RGD:6903251 |
NCBI chr11:62,419,033...62,423,195
Ensembl chr11:62,405,103...62,423,195
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G |
SERPINE1 |
serpin family E member 1 |
treatment |
IMP |
|
RGD |
PMID:12897205 |
RGD:13208810 |
NCBI chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247
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G |
SMAD1 |
SMAD family member 1 |
|
ISO |
protein:increased phosphorylation:glomerulus |
RGD |
PMID:15591053 |
RGD:1643235 |
NCBI chr 4:145,480,770...145,559,176
Ensembl chr 4:145,481,194...145,559,176
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G |
SPP1 |
secreted phosphoprotein 1 |
disease_progression |
ISO |
|
RGD |
PMID:20720406 |
RGD:6903272 |
NCBI chr 4:87,975,714...87,983,411
Ensembl chr 4:87,975,667...87,983,532
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G |
TBXAS1 |
thromboxane A synthase 1 |
|
ISO |
|
RGD |
PMID:10560941 |
RGD:1601461 |
NCBI chr 7:139,778,242...140,020,293
Ensembl chr 7:139,777,051...140,020,325
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G |
TF |
transferrin |
severity |
IEP |
|
RGD |
PMID:22607047 |
RGD:7244194 |
NCBI chr 3:133,661,998...133,796,641
Ensembl chr 3:133,746,040...133,796,641
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G |
TLR2 |
toll like receptor 2 |
|
ISO |
|
RGD |
PMID:16849506 |
RGD:7241071 |
NCBI chr 4:153,684,280...153,710,637
Ensembl chr 4:153,684,050...153,706,260
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G |
TLR4 |
toll like receptor 4 |
|
ISO |
|
RGD |
PMID:20844472 PMID:16849506 |
RGD:4144104, RGD:7241071 |
NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735
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G |
TNF |
tumor necrosis factor |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9403216 PMID:10910440 |
|
NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
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G |
TNFRSF1A |
TNF receptor superfamily member 1A |
disease_progression treatment |
IEP |
protein:increased expression:urine |
RGD |
PMID:20525973 PMID:23400706 |
RGD:7245516, RGD:7245540 |
NCBI chr12:6,328,771...6,342,076
Ensembl chr12:6,328,757...6,342,114
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G |
TNFRSF1B |
TNF receptor superfamily member 1B |
treatment |
ISO IEP |
|
RGD |
PMID:15841213 PMID:22449555 PMID:23400706 |
RGD:7245530, RGD:7245546, RGD:7245540 |
NCBI chr 1:12,166,991...12,209,220
Ensembl chr 1:12,166,991...12,209,228
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G |
TPO |
thyroid peroxidase |
|
IDA |
|
RGD |
PMID:8393543 |
RGD:7207483 |
NCBI chr 2:1,374,047...1,543,673
Ensembl chr 2:1,374,066...1,543,711
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G |
VCAM1 |
vascular cell adhesion molecule 1 |
|
IEP |
protein:increased expression:kidney |
RGD |
PMID:18574676 |
RGD:7241215 |
NCBI chr 1:100,719,742...100,739,045
Ensembl chr 1:100,719,742...100,739,045
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G |
VEGFA |
vascular endothelial growth factor A |
treatment |
IDA |
|
RGD |
PMID:15195119 |
RGD:7421594 |
NCBI chr 6:43,770,211...43,786,487
Ensembl chr 6:43,770,184...43,786,487
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G |
WT1 |
WT1 transcription factor |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20962747 |
|
NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564
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G |
AGT |
angiotensinogen |
|
ISO |
protein:increased expression:kidney, urine mRNA, protein:increased expression:liver, plasma |
RGD |
PMID:21282555 PMID:7550093 |
RGD:5129185, RGD:11039051 |
NCBI chr 1:230,702,523...230,745,583
Ensembl chr 1:230,690,776...230,745,576
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G |
AGTR1 |
angiotensin II receptor type 1 |
|
ISO |
protein:increased expression:kidney |
RGD |
PMID:21282555 |
RGD:5129185 |
NCBI chr 3:148,697,903...148,743,003
Ensembl chr 3:148,697,784...148,743,008
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G |
BAX |
BCL2 associated X, apoptosis regulator |
|
ISO |
mRNA, protein:increased expression:kidney |
RGD |
PMID:12234300 |
RGD:1579984 |
NCBI chr19:48,954,875...48,961,798
Ensembl chr19:48,954,815...48,961,798
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G |
BCL2 |
BCL2 apoptosis regulator |
|
ISO |
mRNA, protein:decreased expression:kidney |
RGD |
PMID:12234300 |
RGD:1579984 |
NCBI chr18:63,123,346...63,320,090
Ensembl chr18:63,123,346...63,320,128
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G |
CCL17 |
C-C motif chemokine ligand 17 |
|
ISO |
mRNA:increased expression:glomerulus |
RGD |
PMID:20071465 |
RGD:4145614 |
NCBI chr16:57,396,093...57,416,063
Ensembl chr16:57,404,767...57,416,063
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|
G |
CCL2 |
C-C motif chemokine ligand 2 |
treatment |
ISO |
mRNA:increased expression:glomerulus |
RGD |
PMID:21894146 PMID:20071465 PMID:17898087 |
RGD:6218988, RGD:4145614, RGD:2307059 |
NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208
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G |
CCL22 |
C-C motif chemokine ligand 22 |
|
ISO |
mRNA, protein:increased expression:glomerulus |
RGD |
PMID:12651599 |
RGD:2306306 |
NCBI chr16:57,357,909...57,366,189
Ensembl chr16:57,358,783...57,366,189
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G |
CCL4 |
C-C motif chemokine ligand 4 |
|
ISO |
mRNA:increased expression:glomerulus |
RGD |
PMID:17898087 |
RGD:2307059 |
NCBI chr17:36,103,827...36,105,614
Ensembl chr17:36,103,827...36,105,621
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G |
CCL5 |
C-C motif chemokine ligand 5 |
|
ISO |
mRNA:increased expression:glomerulus |
RGD |
PMID:17898087 |
RGD:2307059 |
NCBI chr17:35,871,491...35,880,360
Ensembl chr17:35,871,491...35,880,793
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G |
CD274 |
CD274 molecule |
treatment |
ISO |
|
RGD |
PMID:21965585 |
RGD:7248671 |
NCBI chr 9:5,450,542...5,470,554
Ensembl chr 9:5,450,503...5,470,566
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G |
CD40 |
CD40 molecule |
|
ISO |
|
RGD |
PMID:15210767 |
RGD:7248442 |
NCBI chr20:46,118,314...46,129,858
Ensembl chr20:46,118,271...46,129,863
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G |
CD40LG |
CD40 ligand |
|
ISO |
|
RGD |
PMID:15458437 |
RGD:5508170 |
NCBI chr X:136,648,158...136,660,390
Ensembl chr X:136,648,158...136,660,390
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G |
CD80 |
CD80 molecule |
|
ISO |
|
RGD |
PMID:10712436 |
RGD:6902936 |
NCBI chr 3:119,524,293...119,559,614
Ensembl chr 3:119,524,293...119,559,614
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G |
CFB |
complement factor B |
|
ISO |
|
RGD |
PMID:22492944 |
RGD:7242700 |
NCBI chr 6:31,946,095...31,952,084
Ensembl chr 6:31,945,650...31,952,086
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G |
CLU |
clusterin |
|
ISO |
protein:increased expression:urine |
RGD |
PMID:23791361 |
RGD:9068422 |
NCBI chr 8:27,596,917...27,614,700
Ensembl chr 8:27,596,917...27,614,700
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G |
CSF1 |
colony stimulating factor 1 |
treatment |
ISO |
|
RGD |
PMID:19242505 |
RGD:7257569 |
NCBI chr 1:109,910,506...109,930,992
Ensembl chr 1:109,910,242...109,930,992
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G |
CSF1R |
colony stimulating factor 1 receptor |
treatment ameliorates |
ISO |
|
RGD |
PMID:19242505 PMID:21519331 |
RGD:7257569, RGD:151665824 |
NCBI chr 5:150,053,295...150,113,365
Ensembl chr 5:150,053,291...150,113,372
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G |
CTLA4 |
cytotoxic T-lymphocyte associated protein 4 |
treatment |
IMP IDA ISO |
|
RGD |
PMID:10712436 PMID:8206086 PMID:10712436 |
RGD:6902936, RGD:11352257, RGD:6902936 |
NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965
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G |
CX3CL1 |
C-X3-C motif chemokine ligand 1 |
|
ISO |
mRNA, protein:increased expression:glomerulus |
RGD |
PMID:19590241 |
RGD:4891946 |
NCBI chr16:57,372,490...57,385,044
Ensembl chr16:57,372,477...57,385,044
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G |
CX3CR1 |
C-X3-C motif chemokine receptor 1 |
|
ISO |
mRNA, protein:increased expression:glomerulus |
RGD |
PMID:19590241 |
RGD:4891946 |
NCBI chr 3:39,263,494...39,292,966
Ensembl chr 3:39,263,495...39,281,735
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G |
CXCL12 |
C-X-C motif chemokine ligand 12 |
|
ISO |
mRNA:increased expression:glomerulus |
RGD |
PMID:17557270 |
RGD:2306579 |
NCBI chr10:44,370,165...44,385,097
Ensembl chr10:44,370,165...44,386,493
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G |
DUSP1 |
dual specificity phosphatase 1 |
|
ISO |
mRNA:increased expression:glomerulus |
RGD |
PMID:8587253 |
RGD:633769 |
NCBI chr 5:172,768,096...172,771,195
Ensembl chr 5:172,768,096...172,771,195
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G |
FCGR3A |
Fc gamma receptor IIIa |
no_association |
IAGP |
DNA:cnv: : DNA:polymorphism:exon:(rs396991)(human) |
RGD |
PMID:19946017 PMID:19640933 |
RGD:5508400, RGD:5508403 |
NCBI chr 1:161,541,759...161,550,737
Ensembl chr 1:161,541,759...161,550,968
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G |
GP6 |
glycoprotein VI platelet |
|
ISO |
|
RGD |
PMID:20651232 |
RGD:7242710 |
NCBI chr19:55,013,705...55,038,264
Ensembl chr19:55,013,705...55,038,264
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G |
HLA-DPB1 |
major histocompatibility complex, class II, DP beta 1 |
|
IAGP |
|
RGD |
PMID:21569485 |
RGD:5147561 |
NCBI chr 6:33,075,990...33,089,696
Ensembl chr 6:33,075,936...33,089,696
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|
G |
HLA-DRB1 |
major histocompatibility complex, class II, DR beta 1 |
susceptibility |
IAGP |
DNA:polymorphism (human) |
RGD |
PMID:21569485 |
RGD:5147561 |
NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848
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G |
IL10 |
interleukin 10 |
treatment |
ISO |
|
RGD |
PMID:23826305 |
RGD:7365004 |
NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
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G |
IL17A |
interleukin 17A |
treatment |
ISO |
|
RGD |
PMID:23826305 |
RGD:7365004 |
NCBI chr 6:52,186,375...52,190,638
Ensembl chr 6:52,186,375...52,190,638
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G |
IL18 |
interleukin 18 |
|
ISO |
|
RGD |
PMID:22046355 |
RGD:6893447 |
NCBI chr11:112,143,260...112,164,094
Ensembl chr11:112,143,251...112,164,096
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G |
IL1B |
interleukin 1 beta |
|
ISO |
mRNA:increased expression:kidney (mouse) mRNA, protein:increased expression:kidney |
RGD |
PMID:22046355 PMID:9198037 |
RGD:6893447, RGD:7401232 |
NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816
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G |
IL1RN |
interleukin 1 receptor antagonist |
|
ISO |
|
RGD |
PMID:20071465 |
RGD:4145614 |
NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016
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G |
IL4 |
interleukin 4 |
|
ISO |
|
RGD |
PMID:9350645 PMID:17898087 |
RGD:2317673, RGD:2307059 |
NCBI chr 5:132,673,989...132,682,678
Ensembl chr 5:132,673,986...132,682,678
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G |
ITGA4 |
integrin subunit alpha 4 |
treatment |
ISO |
|
RGD |
PMID:9032136 PMID:7679412 |
RGD:2308810, RGD:9698425 |
NCBI chr 2:181,457,205...181,538,940
Ensembl chr 2:181,457,202...181,538,940
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G |
MAPK14 |
mitogen-activated protein kinase 14 |
|
ISO |
|
RGD |
PMID:21894146 |
RGD:6218988 |
NCBI chr 6:36,027,808...36,124,214
Ensembl chr 6:36,027,752...36,122,511
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G |
MAPK8 |
mitogen-activated protein kinase 8 |
|
ISO |
|
RGD |
PMID:21894146 |
RGD:6218988 |
NCBI chr10:48,306,677...48,439,360
Ensembl chr10:48,306,639...48,439,360
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G |
MIF |
macrophage migration inhibitory factor |
|
ISO |
|
RGD |
PMID:10780884 |
RGD:1642011 |
NCBI chr22:23,894,383...23,895,223
Ensembl chr22:23,894,383...23,895,227
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G |
MMP12 |
matrix metallopeptidase 12 |
|
ISO |
|
RGD |
PMID:21894146 |
RGD:6218988 |
NCBI chr11:102,862,736...102,874,982
Ensembl chr11:102,862,736...102,874,982
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G |
MMP14 |
matrix metallopeptidase 14 |
|
ISO |
mRNA:increased expression:kidney, macrophage |
RGD |
PMID:10878552 |
RGD:2314954 |
NCBI chr14:22,836,585...22,847,758
Ensembl chr14:22,836,560...22,849,041
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G |
NOS2 |
nitric oxide synthase 2 |
|
ISO |
|
RGD |
PMID:21894146 |
RGD:6218988 |
NCBI chr17:27,756,766...27,800,529
Ensembl chr17:27,756,766...27,800,529
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G |
NPPB |
natriuretic peptide B |
|
ISO |
|
RGD |
PMID:11729234 |
RGD:7248605 |
NCBI chr 1:11,857,464...11,858,945
Ensembl chr 1:11,857,464...11,858,945
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G |
PDCD1 |
programmed cell death 1 |
treatment |
ISO |
|
RGD |
PMID:21965585 |
RGD:7248671 |
NCBI chr 2:241,849,884...241,858,894
Ensembl chr 2:241,849,884...241,858,894
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G |
PF4 |
platelet factor 4 |
treatment |
ISO |
|
RGD |
PMID:7573480 |
RGD:329901920 |
NCBI chr 4:73,980,811...73,982,124
Ensembl chr 4:73,980,811...73,982,027
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G |
PPARA |
peroxisome proliferator activated receptor alpha |
|
ISO |
|
RGD |
PMID:17888025 |
RGD:5563035 |
NCBI chr22:46,150,526...46,243,756
Ensembl chr22:46,150,521...46,243,755
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G |
PTK2B |
protein tyrosine kinase 2 beta |
|
ISO |
protein:increased expression:glomerulus |
RGD |
PMID:11774117 |
RGD:729912 |
NCBI chr 8:27,310,506...27,459,391
Ensembl chr 8:27,311,482...27,459,391
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G |
RAPGEF1 |
Rap guanine nucleotide exchange factor 1 |
|
ISO |
protein:increased expression:renal glomerulus |
RGD |
PMID:18784646 |
RGD:11534983 |
NCBI chr 9:131,576,775...131,740,076
Ensembl chr 9:131,576,770...131,740,076
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G |
SELP |
selectin P |
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ISO |
|
RGD |
PMID:21894146 |
RGD:6218988 |
NCBI chr 1:169,588,849...169,630,124
Ensembl chr 1:169,588,849...169,630,193
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G |
SLC34A1 |
solute carrier family 34 member 1 |
|
ISO |
protein:decreased expression:kidney, brush border membrane (mouse) |
RGD |
PMID:19193726 |
RGD:7242947 |
NCBI chr 5:177,384,434...177,398,848
Ensembl chr 5:177,379,235...177,398,848
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G |
SLIT2 |
slit guidance ligand 2 |
|
ISO |
mRNA:decreased expression:kidney, glomerulus |
RGD |
PMID:15215188 |
RGD:2316132 |
NCBI chr 4:20,251,905...20,620,561
Ensembl chr 4:20,251,905...20,620,561
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G |
SPP1 |
secreted phosphoprotein 1 |
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ISO |
|
RGD |
PMID:20504883 |
RGD:6903276 |
NCBI chr 4:87,975,714...87,983,411
Ensembl chr 4:87,975,667...87,983,532
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G |
SYK |
spleen associated tyrosine kinase |
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ISO |
|
RGD |
PMID:21894146 |
RGD:6218988 |
NCBI chr 9:90,801,600...90,898,549
Ensembl chr 9:90,801,787...90,898,549
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G |
TNF |
tumor necrosis factor |
|
ISO |
|
RGD |
PMID:21894146 |
RGD:6218988 |
NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
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G |
VCAM1 |
vascular cell adhesion molecule 1 |
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ISO |
protein:increased expression:urine, serum: |
RGD |
PMID:23460853 |
RGD:7241232 |
NCBI chr 1:100,719,742...100,739,045
Ensembl chr 1:100,719,742...100,739,045
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G |
XCL1 |
X-C motif chemokine ligand 1 |
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ISO |
mRNA:increased expression:glomerulus |
RGD |
PMID:9717977 |
RGD:8693304 |
NCBI chr 1:168,576,605...168,582,069
Ensembl chr 1:168,576,605...168,582,069
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G |
C1QA |
complement C1q A chain |
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IAGP |
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...
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NCBI chr 1:22,636,463...22,639,678
Ensembl chr 1:22,635,077...22,639,678
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G |
C1QB |
complement C1q B chain |
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IAGP |
ClinVar Annotator: match by term: C1Q deficiency |
ClinVar |
PMID:17513176 PMID:21654842 PMID:25741868 PMID:28492532 |
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NCBI chr 1:22,653,236...22,661,637
Ensembl chr 1:22,652,762...22,661,637
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G |
C1QC |
complement C1q C chain |
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IAGP |
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...
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NCBI chr 1:22,643,633...22,648,108
Ensembl chr 1:22,643,014...22,648,110
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G |
C1QA |
complement C1q A chain |
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IAGP |
ClinVar Annotator: match by term: C1QA-related condition ClinVar Annotator: match by term: C1Q deficiency 1 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 1:22,636,463...22,639,678
Ensembl chr 1:22,635,077...22,639,678
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G |
C1QB |
complement C1q B chain |
|
IAGP |
ClinVar Annotator: match by term: C1Q deficiency 2 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 |
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NCBI chr 1:22,653,236...22,661,637
Ensembl chr 1:22,652,762...22,661,637
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G |
C1QC |
complement C1q C chain |
|
IAGP |
ClinVar Annotator: match by term: C1QC-related condition ClinVar Annotator: match by term: C1Q deficiency 3 |
OMIM ClinVar |
PMID:7029321 PMID:8630118 PMID:24157463 PMID:28492532 |
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NCBI chr 1:22,643,633...22,648,108
Ensembl chr 1:22,643,014...22,648,110
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G |
CFH |
complement factor H |
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IAGP |
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...
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NCBI chr 1:196,652,043...196,747,504
Ensembl chr 1:196,651,754...196,752,476
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G |
CFHR5 |
complement factor H related 5 |
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IAGP |
ClinVar Annotator: match by term: CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II | ClinVar Annotator: match by term: CFHR5 deficiency 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:9536098 PMID:16299065 PMID:17000000 PMID:17576681 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...
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NCBI chr 1:196,975,034...197,009,678
Ensembl chr 1:196,975,010...197,009,678
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G |
CX3CL1 |
C-X3-C motif chemokine ligand 1 |
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ISO |
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RGD |
PMID:12028445 |
RGD:9491783 |
NCBI chr16:57,372,490...57,385,044
Ensembl chr16:57,372,477...57,385,044
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G |
CX3CR1 |
C-X3-C motif chemokine receptor 1 |
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ISO |
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RGD |
PMID:12028445 |
RGD:9491783 |
NCBI chr 3:39,263,494...39,292,966
Ensembl chr 3:39,263,495...39,281,735
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G |
CCL2 |
C-C motif chemokine ligand 2 |
treatment |
ISO |
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RGD |
PMID:8903512 PMID:17314328 |
RGD:8549743, RGD:8549770 |
NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208
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G |
CCL3 |
C-C motif chemokine ligand 3 |
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IEP ISO |
associated with Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis |
RGD |
PMID:18846416 PMID:17898087 |
RGD:7241813, RGD:2307059 |
NCBI chr17:36,088,256...36,090,143
Ensembl chr17:36,088,256...36,090,169
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G |
CD40 |
CD40 molecule |
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ISO |
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RGD |
PMID:14569091 |
RGD:7248599 |
NCBI chr20:46,118,314...46,129,858
Ensembl chr20:46,118,271...46,129,863
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G |
CD40LG |
CD40 ligand |
treatment |
ISO |
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RGD |
PMID:14569091 |
RGD:7248599 |
NCBI chr X:136,648,158...136,660,390
Ensembl chr X:136,648,158...136,660,390
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G |
CSF1R |
colony stimulating factor 1 receptor |
treatment |
ISO |
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RGD |
PMID:23408165 |
RGD:151665815 |
NCBI chr 5:150,053,295...150,113,365
Ensembl chr 5:150,053,291...150,113,372
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G |
FCGR2A |
Fc gamma receptor IIa |
|
ISO |
DNA:CNV:3'UTR: |
RGD |
PMID:16482158 |
RGD:2293335 |
NCBI chr 1:161,505,457...161,524,048
Ensembl chr 1:161,505,430...161,524,013
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G |
IL1B |
interleukin 1 beta |
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ISO |
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RGD |
PMID:19959716 |
RGD:7175502 |
NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816
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G |
IL1RN |
interleukin 1 receptor antagonist |
treatment |
IDA |
human protein in a rat model |
RGD |
PMID:7637259 |
RGD:8551712 |
NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016
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G |
JUND |
JunD proto-oncogene, AP-1 transcription factor subunit |
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ISO |
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RGD |
PMID:18443593 |
RGD:2293336 |
NCBI chr19:18,279,694...18,281,622
Ensembl chr19:18,279,694...18,281,622
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G |
MMP12 |
matrix metallopeptidase 12 |
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ISO |
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RGD |
PMID:20488952 PMID:12626598 |
RGD:2325762, RGD:737630 |
NCBI chr11:102,862,736...102,874,982
Ensembl chr11:102,862,736...102,874,982
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G |
MMP3 |
matrix metallopeptidase 3 |
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ISO |
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RGD |
PMID:11095647 |
RGD:7241255 |
NCBI chr11:102,835,801...102,843,609
Ensembl chr11:102,835,801...102,843,609
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G |
MMP9 |
matrix metallopeptidase 9 |
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ISO |
protein:increased expression:renal cortex (rat) |
RGD |
PMID:16046515 |
RGD:2313720 |
NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
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G |
MTOR |
mechanistic target of rapamycin kinase |
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ISO |
|
RGD |
PMID:21403644 |
RGD:7245940 |
NCBI chr 1:11,106,535...11,262,551
Ensembl chr 1:11,106,535...11,262,556
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G |
STAT6 |
signal transducer and activator of transcription 6 |
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ISO |
|
RGD |
PMID:21985369 |
RGD:7243976 |
NCBI chr12:57,095,408...57,111,362
Ensembl chr12:57,095,408...57,132,139
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G |
TLR9 |
toll like receptor 9 |
severity |
ISO |
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RGD |
PMID:20847283 |
RGD:7246899 |
NCBI chr 3:52,221,080...52,225,645
Ensembl chr 3:52,221,080...52,225,645
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G |
ACE2 |
angiotensin converting enzyme 2 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16723697 |
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NCBI chr X:15,518,197...15,607,211
Ensembl chr X:15,494,566...15,607,236
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G |
ACTA2 |
actin alpha 2, smooth muscle |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20493835 |
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NCBI chr10:88,935,074...88,991,337
Ensembl chr10:88,934,822...88,991,339
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G |
ACTN4 |
actinin alpha 4 |
susceptibility |
IAGP EXP |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar Annotator: match by term: Glomerulosclerosis, focal CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:16251236 PMID:18594871 PMID:19142020 PMID:19956976 PMID:21680739 PMID:22732337 PMID:23890478 PMID:24130771 PMID:25741868 PMID:26248470 PMID:26346198 PMID:26467025 PMID:27535533 PMID:28492532 PMID:29869118 PMID:31027891 PMID:31930129 PMID:10700177 More...
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RGD:1598731 |
NCBI chr19:38,647,649...38,731,589
Ensembl chr19:38,647,649...38,731,589
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G |
ACTR3 |
actin related protein 3 |
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ISO |
DNA:missense mutation:cds:p.L111F (rat) protein:increased expression:renal glomerulus (rat) |
RGD |
PMID:18064521 PMID:27251563 |
RGD:2292230, RGD:11575049 |
NCBI chr 2:113,889,934...113,962,596
Ensembl chr 2:113,890,063...113,962,596
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G |
AGT |
angiotensinogen |
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ISO EXP |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:19858406 PMID:21357516 |
RGD:5129175 |
NCBI chr 1:230,702,523...230,745,583
Ensembl chr 1:230,690,776...230,745,576
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G |
AGTR1 |
angiotensin II receptor type 1 |
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ISO |
protein:increased expression:kidney cortex |
RGD |
PMID:21357516 |
RGD:5129175 |
NCBI chr 3:148,697,903...148,743,003
Ensembl chr 3:148,697,784...148,743,008
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G |
AGTR2 |
angiotensin II receptor type 2 |
|
ISO |
protein:increased expression:kidney cortex |
RGD |
PMID:21357516 |
RGD:5129175 |
NCBI chr X:116,170,744...116,174,974
Ensembl chr X:116,170,744...116,174,974
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G |
ANGPT2 |
angiopoietin 2 |
|
ISO |
mRNA, protein:increased expression:glomerulus (rat) |
RGD |
PMID:16628643 |
RGD:2314213 |
NCBI chr 8:6,499,632...6,563,245
Ensembl chr 8:6,499,632...6,563,409
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G |
ANLN |
anillin, actin binding protein |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
|
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NCBI chr 7:36,389,862...36,453,791
Ensembl chr 7:36,389,821...36,453,791
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G |
APOL1 |
apolipoprotein L1 |
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EXP IAGP |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hyalinosis, Segmental Glomerular |
CTD ClinVar |
PMID:20635188 PMID:20647424 PMID:20668430 PMID:21997394 PMID:24033266 PMID:24206458 PMID:25741868 PMID:25788523 PMID:25993319 PMID:28218918 PMID:28492532 PMID:28650456 PMID:30332315 PMID:30340464 PMID:32581362 PMID:32675303 More...
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NCBI chr22:36,253,133...36,267,525
Ensembl chr22:36,253,071...36,267,530
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G |
ARHGAP24 |
Rho GTPase activating protein 24 |
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IAGP |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis |
ClinVar |
|
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NCBI chr 4:85,475,150...86,002,666
Ensembl chr 4:85,475,150...86,002,668
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G |
AXDND1 |
axonemal dynein light chain domain containing 1 |
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IAGP |
ClinVar Annotator: match by term: Glomerulosclerosis, focal ClinVar Annotator: match by term: Focal segmental glomerulosclerosis |
ClinVar |
PMID:8589695 PMID:10742096 PMID:11805166 PMID:15253708 PMID:15327385 PMID:18823551 PMID:19406966 PMID:20947785 PMID:21355056 PMID:24509478 PMID:24742477 PMID:25741868 PMID:28492532 PMID:30655312 PMID:32581362 More...
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NCBI chr 1:179,365,705...179,554,735
Ensembl chr 1:179,365,720...179,554,735
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G |
BDKRB1 |
bradykinin receptor B1 |
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ISO |
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RGD |
PMID:21412216 |
RGD:7175321 |
NCBI chr14:96,256,210...96,264,763
Ensembl chr14:96,256,210...96,268,967
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G |
C2 |
complement C2 |
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IAGP |
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...
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NCBI chr 6:31,897,783...31,945,672
Ensembl chr 6:31,897,785...31,945,673
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G |
C3 |
complement C3 |
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IAGP |
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...
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NCBI chr19:6,677,704...6,720,650
Ensembl chr19:6,677,704...6,730,562
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G |
CASP9 |
caspase 9 |
treatment |
ISO |
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RGD |
PMID:28245472 |
RGD:13782344 |
NCBI chr 1:15,491,401...15,524,912
Ensembl chr 1:15,490,832...15,526,534
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G |
CAT |
catalase |
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ISO |
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RGD |
PMID:22443450 |
RGD:7205647 |
NCBI chr11:34,438,934...34,472,060
Ensembl chr11:34,438,934...34,472,060
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G |
CCL11 |
C-C motif chemokine ligand 11 |
treatment |
ISO |
|
RGD |
PMID:22427838 |
RGD:7247740 |
NCBI chr17:34,285,742...34,288,334
Ensembl chr17:34,285,742...34,288,334
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G |
CCL3 |
C-C motif chemokine ligand 3 |
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IEP |
|
RGD |
PMID:17684420 |
RGD:7241818 |
NCBI chr17:36,088,256...36,090,143
Ensembl chr17:36,088,256...36,090,169
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G |
CCN2 |
cellular communication network factor 2 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17121042 |
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NCBI chr 6:131,948,176...131,951,372
Ensembl chr 6:131,948,176...131,951,372
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G |
CD2AP |
CD2 associated protein |
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IAGP EXP |
FSGS3, OMIM:607832, DNA:splice-site mutaton ClinVar Annotator: match by term: Focal segmental glomerulosclerosis CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:25741868 PMID:28492532 PMID:12764198 |
RGD:1600628 |
NCBI chr 6:47,477,789...47,627,263
Ensembl chr 6:47,477,789...47,627,263
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G |
CFB |
complement factor B |
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ISO IAGP |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis |
ClinVar RGD |
PMID:2249879 PMID:6308626 PMID:8181962 PMID:16518403 PMID:16936732 PMID:18806293 PMID:21541267 PMID:24033266 PMID:25741868 PMID:28492532 PMID:17522263 More...
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RGD:7242704 |
NCBI chr 6:31,946,095...31,952,084
Ensembl chr 6:31,945,650...31,952,086
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G |
CFH |
complement factor H |
|
IAGP |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis |
ClinVar |
PMID:8072530 PMID:15870199 PMID:16299065 PMID:17089378 PMID:17947292 PMID:18252712 PMID:19259132 PMID:21909106 PMID:25741868 PMID:28492532 PMID:34189567 PMID:35925583 More...
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NCBI chr 1:196,652,043...196,747,504
Ensembl chr 1:196,651,754...196,752,476
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G |
CFI |
complement factor I |
|
IAGP |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis |
ClinVar |
PMID:18825487 PMID:25741868 PMID:28492532 |
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NCBI chr 4:109,730,982...109,801,999
Ensembl chr 4:109,731,008...109,802,150
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G |
CMAS |
cytidine monophosphate N-acetylneuraminic acid synthetase |
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ISS |
|
MouseDO |
|
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NCBI chr12:22,046,218...22,065,668
Ensembl chr12:22,046,218...22,065,674
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G |
COL4A1 |
collagen type IV alpha 1 chain |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16191423 PMID:18682491 |
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NCBI chr13:110,148,963...110,307,157
Ensembl chr13:110,148,963...110,307,202
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G |
COL4A3 |
collagen type IV alpha 3 chain |
|
IAGP |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis |
ClinVar |
PMID:14871398 PMID:17216251 PMID:18385178 PMID:24033266 PMID:24854265 PMID:25741868 PMID:26346198 PMID:26467025 PMID:28492532 PMID:29924831 PMID:30245029 More...
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NCBI chr 2:227,164,624...227,314,792
Ensembl chr 2:227,164,624...227,314,792
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COL4A4 |
collagen type IV alpha 4 chain |
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IAGP |
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...
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NCBI chr 2:226,967,360...227,164,488
Ensembl chr 2:227,002,714...227,164,453
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COL4A5 |
collagen type IV alpha 5 chain |
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IAGP |
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...
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NCBI chr X:108,439,838...108,697,545
Ensembl chr X:108,439,838...108,697,545
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COQ2 |
coenzyme Q2, polyprenyltransferase |
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IAGP |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr 4:83,263,824...83,285,134
Ensembl chr 4:83,261,536...83,284,914
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COQ8B |
coenzyme Q8B |
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IAGP |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis |
ClinVar |
PMID:25741868 PMID:32543055 |
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NCBI chr19:40,691,530...40,716,886
Ensembl chr19:40,691,514...40,725,784
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CRB2 |
crumbs cell polarity complex component 2 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 9:123,354,065...123,380,326
Ensembl chr 9:123,356,170...123,380,324
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CUBN |
cubilin |
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IAGP |
ClinVar Annotator: match by term: Glomerulosclerosis, focal |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr10:16,823,966...17,129,811
Ensembl chr10:16,823,966...17,129,811
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EDN1 |
endothelin 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16191423 |
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NCBI chr 6:12,230,516...12,297,194
Ensembl chr 6:12,290,361...12,297,194
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EYA1 |
EYA transcriptional coactivator and phosphatase 1 |
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IAGP |
ClinVar Annotator: match by term: Glomerulosclerosis, focal |
ClinVar |
PMID:10991693 PMID:24033266 PMID:25741868 PMID:31049720 |
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NCBI chr 8:71,197,433...71,548,094
Ensembl chr 8:71,197,433...71,592,025
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FN1 |
fibronectin 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16191423 |
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NCBI chr 2:215,360,865...215,436,068
Ensembl chr 2:215,360,440...215,436,073
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GNAQ |
G protein subunit alpha q |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16267159 |
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NCBI chr 9:77,716,097...78,031,811
Ensembl chr 9:77,716,097...78,031,811
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HAVCR1 |
hepatitis A virus cellular receptor 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19225054 |
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NCBI chr 5:157,029,413...157,069,407
Ensembl chr 5:157,026,742...157,069,396
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HR |
HR lysine demethylase and nuclear receptor corepressor |
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ISO |
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RGD |
PMID:21325752 |
RGD:150520024 |
NCBI chr 8:22,114,419...22,131,052
Ensembl chr 8:22,114,419...22,133,384
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HSPB1 |
heat shock protein family B (small) member 1 |
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IEP |
protein:increased expression:glomerulus, podocyte: |
RGD |
PMID:21931298 |
RGD:10402764 |
NCBI chr 7:76,302,673...76,304,292
Ensembl chr 7:76,302,673...76,305,813
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IL1B |
interleukin 1 beta |
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ISO |
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RGD |
PMID:21412216 |
RGD:7175321 |
NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816
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INF2 |
inverted formin 2 |
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EXP IAGP |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal |
CTD ClinVar |
PMID:20023659 PMID:21866090 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30655312 PMID:32451589 More...
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NCBI chr14:104,681,133...104,722,535
Ensembl chr14:104,681,146...104,722,535
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ITGB3 |
integrin subunit beta 3 |
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ISO |
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RGD |
PMID:21804539 |
RGD:6907385 |
NCBI chr17:47,253,827...47,313,743
Ensembl chr17:47,253,827...47,313,743
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ITGB4 |
integrin subunit beta 4 |
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IAGP |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis |
ClinVar |
PMID:25741868 |
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NCBI chr17:75,721,459...75,757,818
Ensembl chr17:75,721,328...75,757,818
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KIRREL2 |
kirre like nephrin family adhesion molecule 2 |
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IAGP |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal |
ClinVar |
PMID:19406966 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr19:35,851,399...35,867,136
Ensembl chr19:35,855,861...35,867,136
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LAMB2 |
laminin subunit beta 2 |
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IAGP |
ClinVar Annotator: match by term: Glomerulosclerosis, focal ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal |
ClinVar |
PMID:20556798 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr 3:49,121,114...49,133,050
Ensembl chr 3:49,121,114...49,133,118
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LIPC |
lipase C, hepatic type |
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ISO |
protein:reduced expression:serum (rat) |
RGD |
PMID:14531811 |
RGD:2308781 |
NCBI chr15:58,431,991...58,569,844
Ensembl chr15:58,410,569...58,569,844
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LMX1B |
LIM homeobox transcription factor 1 beta |
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IAGP |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 9:126,613,928...126,701,032
Ensembl chr 9:126,613,928...126,701,032
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LOC107982234 |
WT1/WT1-AS bi-directional promoter region |
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IAGP |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis |
ClinVar |
PMID:18559874 PMID:18591546 PMID:19171881 PMID:19221039 PMID:19494353 PMID:19536888 PMID:20368469 PMID:20413658 PMID:20435628 PMID:25110071 PMID:25741868 PMID:25932436 PMID:26725263 PMID:28492532 More...
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NCBI chr11:32,430,169...32,437,423
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LOC112997540 |
Sharpr-MPRA regulatory region 13773 |
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IAGP |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr 4:83,284,501...83,284,930
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LOC126806995 |
BRD4-independent group 4 enhancer GRCh37_chr4:17615609-17616808 |
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IAGP |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis |
ClinVar |
PMID:25741868 |
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NCBI chr 4:17,613,986...17,615,185
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LPL |
lipoprotein lipase |
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ISO |
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RGD |
PMID:14531811 |
RGD:2308781 |
NCBI chr 8:19,939,253...19,967,259
Ensembl chr 8:19,901,717...19,967,259
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MED28 |
mediator complex subunit 28 |
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IAGP |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis |
ClinVar |
PMID:25741868 |
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NCBI chr 4:17,614,641...17,634,105
Ensembl chr 4:17,614,641...17,634,105
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MFF-DT |
MFF divergent transcript |
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IAGP |
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...
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NCBI chr 2:227,221,052...227,325,164
Ensembl chr 2:227,221,052...227,325,711
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MIR193A |
microRNA 193a |
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ISS |
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MouseDO |
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NCBI chr17:31,559,996...31,560,083
Ensembl chr17:31,559,996...31,560,083
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MMP2 |
matrix metallopeptidase 2 |
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ISO |
mRNA, protein:increased expression, increased activity:kidney |
RGD |
PMID:19357873 |
RGD:2325738 |
NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691
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MMP9 |
matrix metallopeptidase 9 |
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ISO |
mRNA, protein:increased expression, increased activity:kidney |
RGD |
PMID:19357873 |
RGD:2325738 |
NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
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G |
MPV17 |
mitochondrial inner membrane protein MPV17 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18818194 |
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NCBI chr 2:27,309,492...27,323,097
Ensembl chr 2:27,309,492...27,325,680
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MT-TY |
mitochondrially encoded tRNA-Tyr (UAU/C) |
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IAGP |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis and dilated cardiomyopathy |
ClinVar |
PMID:14598342 PMID:31965079 |
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NCBI chr MT:5,826...5,891
Ensembl chr MT:5,826...5,891
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MYH10 |
myosin heavy chain 10 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9678433 |
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NCBI chr17:8,474,212...8,630,725
Ensembl chr17:8,474,207...8,631,376
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MYH9 |
myosin heavy chain 9 |
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ISO IAGP EXP |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:18794856 PMID:19557653 PMID:23144074 PMID:24033266 PMID:25741868 PMID:26346198 PMID:26467025 PMID:26969326 PMID:27068579 PMID:28492532 PMID:21402784 More...
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RGD:6903254 |
NCBI chr22:36,281,280...36,387,967
Ensembl chr22:36,281,280...36,388,010
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MYO1E |
myosin IE |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr15:59,132,434...59,372,871
Ensembl chr15:59,132,434...59,372,871
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MYO9A |
myosin IXA |
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ISS IAGP |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal |
MouseDO ClinVar |
PMID:25741868 PMID:33412162 |
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NCBI chr15:71,822,291...72,118,600
Ensembl chr15:71,822,291...72,118,577
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NLRP3 |
NLR family pyrin domain containing 3 |
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IAGP |
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...
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NCBI chr 1:247,416,077...247,448,817
Ensembl chr 1:247,332,331...247,449,108
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NOC3L |
NOC3 like DNA replication regulator |
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IAGP |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis |
ClinVar |
PMID:25741868 |
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NCBI chr10:94,314,907...94,362,939
Ensembl chr10:94,333,226...94,362,959
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NOS2 |
nitric oxide synthase 2 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16191423 |
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NCBI chr17:27,756,766...27,800,529
Ensembl chr17:27,756,766...27,800,529
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NPHP1 |
nephrocystin 1 |
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IAGP |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 2:110,123,348...110,205,013
Ensembl chr 2:110,122,311...110,205,066
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NPHP3 |
nephrocystin 3 |
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IAGP |
ClinVar Annotator: match by term: Glomerulosclerosis, focal |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 3:132,680,609...132,722,409
Ensembl chr 3:132,680,609...132,722,432
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NPHP3-ACAD11 |
NPHP3-ACAD11 readthrough (NMD candidate) |
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IAGP |
ClinVar Annotator: match by term: Glomerulosclerosis, focal |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 3:132,558,138...132,722,459
Ensembl chr 3:132,558,142...132,722,459
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NPHP4 |
nephrocystin 4 |
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IAGP |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 1:5,862,811...5,992,425
Ensembl chr 1:5,862,811...5,992,473
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G |
NPHS1 |
NPHS1 adhesion molecule, nephrin |
disease_progression |
IEP |
mRNA:increased expression:urine (human) protein:decreased expression:kidney,renal glomerulus (human) |
RGD |
PMID:21414970 PMID:30900988 |
RGD:38549367, RGD:15023481 |
NCBI chr19:35,862,915...35,869,357
Ensembl chr19:35,825,964...35,869,287
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NPHS1 |
NPHS1 adhesion molecule, nephrin |
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EXP IAGP |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar Annotator: match by term: Glomerulosclerosis, focal ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal |
CTD ClinVar |
PMID:9915943 PMID:10652016 PMID:11317351 PMID:11726550 PMID:11854170 PMID:12324903 PMID:12631336 PMID:15086927 PMID:15338398 PMID:15942677 PMID:17211152 PMID:17371932 PMID:18443213 PMID:18503012 PMID:18614772 PMID:19406966 PMID:19808243 PMID:19812541 PMID:20172850 PMID:20507940 PMID:20798252 PMID:20981092 PMID:21228398 PMID:21415313 PMID:22565185 PMID:23349334 PMID:23595123 PMID:24130771 PMID:24142548 PMID:24371179 PMID:24472419 PMID:24742477 PMID:24902943 PMID:24948143 PMID:25349199 PMID:25741868 PMID:25804400 PMID:26248470 PMID:26346198 PMID:26467025 PMID:26560236 PMID:26668027 PMID:26764160 PMID:26990548 PMID:27019444 PMID:27312921 PMID:27535533 PMID:27884173 PMID:28117080 PMID:28492532 PMID:28658201 PMID:28724397 PMID:28780565 PMID:29474669 PMID:30013592 PMID:30215773 PMID:30721404 PMID:31655822 PMID:31738409 PMID:33216373 PMID:33980730 More...
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NCBI chr19:35,825,372...35,852,504
Ensembl chr19:35,825,372...35,869,287
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NPHS2 |
NPHS2 stomatin family member, podocin |
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EXP IAGP |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Glomerulosclerosis, focal ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal |
CTD ClinVar |
PMID:1523708 PMID:8589695 PMID:10742096 PMID:11805166 PMID:11805168 PMID:11854170 PMID:12446471 PMID:12464671 PMID:12644922 PMID:12707396 PMID:12776285 PMID:14570703 PMID:14675423 PMID:14701729 PMID:14978175 PMID:15042551 PMID:15253708 PMID:15264208 PMID:15327385 PMID:15496146 PMID:15769810 PMID:15942677 PMID:15954915 PMID:15968559 PMID:16286890 PMID:16291839 PMID:16481888 PMID:16810518 PMID:16900088 PMID:17109732 PMID:17371932 PMID:17899208 PMID:17942957 PMID:18216321 PMID:18499321 PMID:18683072 PMID:18823551 PMID:19145239 PMID:19268410 PMID:19406966 PMID:19520069 PMID:19812541 PMID:20333530 PMID:20798252 PMID:20947785 PMID:21355056 PMID:21415313 PMID:21636722 PMID:21722858 PMID:22228437 PMID:22578956 PMID:23242530 PMID:23349334 PMID:23515051 PMID:23595123 PMID:23645318 PMID:23800802 PMID:24072147 PMID:24227627 PMID:24509478 PMID:24715228 PMID:24742477 PMID:24969201 PMID:25349199 PMID:25525159 PMID:25599733 PMID:25741868 PMID:26138234 PMID:26211502 PMID:26413278 PMID:26420286 PMID:26467025 PMID:26467726 PMID:27885584 PMID:28492532 PMID:28529802 PMID:28658201 PMID:28712774 PMID:28780565 PMID:29869118 PMID:30241959 PMID:30260545 PMID:30348286 PMID:30655312 PMID:31027891 PMID:31738409 PMID:32129207 PMID:32467597 PMID:32581362 PMID:33193607 PMID:33532864 PMID:34405919 PMID:34853150 More...
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NCBI chr 1:179,550,539...179,575,948
Ensembl chr 1:179,550,539...179,575,952
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NUP93 |
nucleoporin 93 |
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IAGP |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis |
ClinVar |
PMID:32581362 |
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NCBI chr16:56,730,129...56,850,286
Ensembl chr16:56,730,118...56,850,286
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G |
NXF5 |
nuclear RNA export factor 5 |
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IAGP |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis |
ClinVar |
PMID:23686279 |
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NCBI chr X:101,832,112...101,857,577
Ensembl chr X:101,832,537...101,843,278 Ensembl chr X:101,832,537...101,843,278
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G |
PAX2 |
paired box 2 |
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EXP IAGP |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Glomerulosclerosis, focal ClinVar Annotator: match by term: Focal segmental glomerulosclerosis |
CTD ClinVar |
PMID:3377002 PMID:8589702 PMID:9106533 PMID:11093271 PMID:11241473 PMID:11461952 PMID:22213154 PMID:22350371 PMID:24429398 PMID:24676634 PMID:25741868 PMID:27226968 PMID:28492532 PMID:31001663 PMID:32203253 PMID:33532864 PMID:34696790 PMID:35444690 More...
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NCBI chr10:100,735,396...100,829,944
Ensembl chr10:100,735,396...100,829,944
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G |
PCNA |
proliferating cell nuclear antigen |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17121042 |
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NCBI chr20:5,114,953...5,126,622
Ensembl chr20:5,114,953...5,126,626
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G |
PDSS2 |
decaprenyl diphosphate synthase subunit 2 |
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IAGP |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 6:107,152,562...107,459,564
Ensembl chr 6:107,152,562...107,459,564
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G |
PIAS1 |
protein inhibitor of activated STAT 1 |
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ISO |
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RGD |
PMID:19350281 |
RGD:8693412 |
NCBI chr15:68,054,315...68,193,847
Ensembl chr15:68,054,309...68,198,603
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G |
PLCE1 |
phospholipase C epsilon 1 |
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IAGP |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 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...
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NCBI chr10:93,993,931...94,332,823
Ensembl chr10:93,993,931...94,332,823
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PLCE1-AS1 |
PLCE1 antisense RNA 1 |
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IAGP |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr10:94,279,290...94,287,070
Ensembl chr10:94,278,280...94,287,478
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PMM2 |
phosphomannomutase 2 |
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IAGP |
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...
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NCBI chr16:8,797,839...8,849,325
Ensembl chr16:8,788,823...8,862,534
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PPP3CA |
protein phosphatase 3 catalytic subunit alpha |
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IEP |
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RGD |
PMID:26436650 |
RGD:13515117 |
NCBI chr 4:101,023,418...101,347,526
Ensembl chr 4:101,023,409...101,348,278
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PPP3CB |
protein phosphatase 3 catalytic subunit beta |
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IEP |
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RGD |
PMID:26436650 |
RGD:13515117 |
NCBI chr10:73,436,433...73,496,024
Ensembl chr10:73,436,433...73,496,024
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RAP1GAP |
RAP1 GTPase activating protein |
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IEP |
mRNA:increased expression:renal glomerulus (human) |
RGD |
PMID:24642466 |
RGD:9835343 |
NCBI chr 1:21,596,221...21,669,357
Ensembl chr 1:21,596,221...21,669,357
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REG1A |
regenerating family member 1 alpha |
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IAGP |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis |
ClinVar |
PMID:25741868 |
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NCBI chr 2:79,120,488...79,123,409
Ensembl chr 2:79,120,362...79,123,409
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RPGRIP1L |
RPGRIP1 like |
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IAGP |
ClinVar Annotator: match by term: Glomerulosclerosis, focal |
ClinVar |
PMID:19430481 PMID:20301500 PMID:25741868 PMID:28492532 |
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NCBI chr16:53,598,153...53,703,859
Ensembl chr16:53,598,153...53,703,938
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SCARB2 |
scavenger receptor class B member 2 |
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IAGP |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal |
ClinVar |
PMID:25088547 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr 4:76,158,737...76,234,532
Ensembl chr 4:76,158,737...76,234,536
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SDCCAG8 |
SHH signaling and ciliogenesis regulator SDCCAG8 |
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IAGP |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal |
ClinVar |
PMID:25741868 |
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NCBI chr 1:243,256,041...243,500,091
Ensembl chr 1:243,256,034...243,500,091
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SERPINE1 |
serpin family E member 1 |
treatment |
ISO EXP |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:18682491 PMID:22303720 |
RGD:13208548 |
NCBI chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247
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SHH |
sonic hedgehog signaling molecule |
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IEP |
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RGD |
PMID:24744439 |
RGD:12859042 |
NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463
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SLC17A5 |
solute carrier family 17 member 5 |
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IAGP |
ClinVar Annotator: match by term: Glomerulosclerosis, focal |
ClinVar |
PMID:25741868 PMID:28492532 PMID:29140481 |
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NCBI chr 6:73,593,379...73,653,992
Ensembl chr 6:73,593,379...73,653,992
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SMARCAL1 |
SNF2 related chromatin remodeling annealing helicase 1 |
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IAGP |
ClinVar Annotator: match by term: Glomerulosclerosis, focal 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...
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NCBI chr 2:216,412,484...216,483,053
Ensembl chr 2:216,412,383...216,483,053
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SPP1 |
secreted phosphoprotein 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9294829 |
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NCBI chr 4:87,975,714...87,983,411
Ensembl chr 4:87,975,667...87,983,532
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SREBF2 |
sterol regulatory element binding transcription factor 2 |
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ISO |
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RGD |
PMID:16316337 |
RGD:1581416 |
NCBI chr22:41,833,105...41,907,305
Ensembl chr22:41,833,105...41,907,306
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SRGAP1 |
SLIT-ROBO Rho GTPase activating protein 1 |
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ISS |
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MouseDO |
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NCBI chr12:63,844,700...64,162,217
Ensembl chr12:63,843,761...64,162,217
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TGFB1 |
transforming growth factor beta 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16191423 PMID:18682491 PMID:20493835 |
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NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922
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TMEM63C |
transmembrane protein 63C |
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IEP |
protein:decreased expression:kidney,renal glomerulus (human) |
RGD |
PMID:30900988 |
RGD:15023481 |
NCBI chr14:77,181,798...77,259,495
Ensembl chr14:77,116,568...77,259,495
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TNF |
tumor necrosis factor |
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ISO |
protein:increased expression:serum |
RGD |
PMID:21221075 |
RGD:7245511 |
NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
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TNFAIP2 |
TNF alpha induced protein 2 |
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ISS |
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MouseDO |
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NCBI chr14:103,121,469...103,137,439
Ensembl chr14:103,121,476...103,137,439
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TNFRSF1A |
TNF receptor superfamily member 1A |
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ISO |
protein:increased expression:serum |
RGD |
PMID:21221075 |
RGD:7245511 |
NCBI chr12:6,328,771...6,342,076
Ensembl chr12:6,328,757...6,342,114
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TNFRSF1B |
TNF receptor superfamily member 1B |
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ISO |
protein:increased expression:serum |
RGD |
PMID:21221075 |
RGD:7245511 |
NCBI chr 1:12,166,991...12,209,220
Ensembl chr 1:12,166,991...12,209,228
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TRPC6 |
transient receptor potential cation channel subfamily C member 6 |
treatment |
ISO IAGP EXP |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal CTD Direct Evidence: marker/mechanism DNA:missense mutation:exon:p.P112Q (human) DNA:nonsense mutation, missense mutations: :multiple DNA:SNP:exon:p.P15S (human) |
ClinVar CTD RGD |
PMID:19936226 PMID:22980509 PMID:25019165 PMID:25741868 PMID:26467025 PMID:26892346 PMID:28492532 PMID:32581362 PMID:23385000 PMID:15879175 PMID:15924139 PMID:21839714 PMID:22980509 More...
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RGD:7247440, RGD:7247581, RGD:7247580, RGD:7247445, RGD:7247444 |
NCBI chr11:101,451,564...101,584,007
Ensembl chr11:101,451,564...101,872,562
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VLDLR |
very low density lipoprotein receptor |
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ISO |
protein:decreased expression:adipose tissue, skeletal muscle (rat) |
RGD |
PMID:11786096 |
RGD:2324671 |
NCBI chr 9:2,621,787...2,660,056
Ensembl chr 9:2,621,182...2,660,056
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VWF |
von Willebrand factor |
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IEP |
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RGD |
PMID:22295953 |
RGD:7207031 |
NCBI chr12:5,948,877...6,124,670
Ensembl chr12:5,948,877...6,124,770
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WT1 |
WT1 transcription factor |
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IAGP |
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...
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NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564
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ZMPSTE24 |
zinc metallopeptidase STE24 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17152860 |
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NCBI chr 1:40,258,236...40,294,180
Ensembl chr 1:40,258,041...40,294,180
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ACE |
angiotensin I converting enzyme |
treatment |
ISO |
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RGD |
PMID:8505110 |
RGD:12880006 |
NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380
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ACTN4 |
actinin alpha 4 |
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IAGP ISS |
ClinVar Annotator: match by term: ACTN4-related condition | ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 1 ClinVar Annotator: match by term: Focal sclerosis with hyalinosis | ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 1 OMIM:603278 |
OMIM ClinVar MouseDO |
PMID:9536098 PMID:10700177 PMID:16251236 PMID:17576681 PMID:18594871 PMID:19142020 PMID:19956976 PMID:21680739 PMID:22351778 PMID:22732337 PMID:23890478 PMID:24130771 PMID:25741868 PMID:26248470 PMID:26301083 PMID:26346198 PMID:26467025 PMID:26740551 PMID:27535533 PMID:28492532 PMID:29869118 PMID:30406062 PMID:31027891 PMID:36090564 More...
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NCBI chr19:38,647,649...38,731,589
Ensembl chr19:38,647,649...38,731,589
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APOL1 |
apolipoprotein L1 |
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IAGP |
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis |
ClinVar |
PMID:20635188 PMID:20647424 PMID:20668430 PMID:21997394 PMID:24033266 PMID:24206458 PMID:25741868 PMID:25788523 PMID:28492532 PMID:30332315 PMID:30340464 PMID:32581362 PMID:32675303 More...
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NCBI chr22:36,253,133...36,267,525
Ensembl chr22:36,253,071...36,267,530
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ARHGAP24 |
Rho GTPase activating protein 24 |
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IAGP |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 1 |
ClinVar |
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NCBI chr 4:85,475,150...86,002,666
Ensembl chr 4:85,475,150...86,002,668
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AXDND1 |
axonemal dynein light chain domain containing 1 |
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IAGP |
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...
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NCBI chr 1:179,365,705...179,554,735
Ensembl chr 1:179,365,720...179,554,735
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C2 |
complement C2 |
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IAGP |
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...
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NCBI chr 6:31,897,783...31,945,672
Ensembl chr 6:31,897,785...31,945,673
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C3 |
complement C3 |
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IAGP |
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis |
ClinVar |
PMID:1976733 PMID:17634448 PMID:18325906 PMID:19168221 PMID:25741868 PMID:28492532 More...
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NCBI chr19:6,677,704...6,720,650
Ensembl chr19:6,677,704...6,730,562
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CD2AP |
CD2 associated protein |
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IAGP |
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis |
ClinVar |
PMID:25741868 |
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NCBI chr 6:47,477,789...47,627,263
Ensembl chr 6:47,477,789...47,627,263
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CFB |
complement factor B |
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IAGP |
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...
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NCBI chr 6:31,946,095...31,952,084
Ensembl chr 6:31,945,650...31,952,086
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CFI |
complement factor I |
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IAGP |
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis |
ClinVar |
PMID:18825487 PMID:25741868 PMID:28492532 |
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NCBI chr 4:109,730,982...109,801,999
Ensembl chr 4:109,731,008...109,802,150
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COL4A4 |
collagen type IV alpha 4 chain |
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IAGP |
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...
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NCBI chr 2:226,967,360...227,164,488
Ensembl chr 2:227,002,714...227,164,453
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CUBN |
cubilin |
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IAGP |
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr10:16,823,966...17,129,811
Ensembl chr10:16,823,966...17,129,811
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EYA1 |
EYA transcriptional coactivator and phosphatase 1 |
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IAGP |
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis |
ClinVar |
PMID:10991693 PMID:24033266 PMID:25741868 PMID:31049720 |
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NCBI chr 8:71,197,433...71,548,094
Ensembl chr 8:71,197,433...71,592,025
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G |
INF2 |
inverted formin 2 |
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IAGP |
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr14:104,681,133...104,722,535
Ensembl chr14:104,681,146...104,722,535
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G |
KIRREL2 |
kirre like nephrin family adhesion molecule 2 |
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IAGP |
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr19:35,851,399...35,867,136
Ensembl chr19:35,855,861...35,867,136
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LAMB2 |
laminin subunit beta 2 |
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IAGP |
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis |
ClinVar |
PMID:20556798 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr 3:49,121,114...49,133,050
Ensembl chr 3:49,121,114...49,133,118
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G |
LOC130064361 |
ATAC-STARR-seq lymphoblastoid silent region 10579 |
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IAGP |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 1 |
ClinVar |
PMID:25741868 |
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NCBI chr19:38,647,909...38,647,988
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MYH9 |
myosin heavy chain 9 |
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IAGP |
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...
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NCBI chr22:36,281,280...36,387,967
Ensembl chr22:36,281,280...36,388,010
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MYO9A |
myosin IXA |
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IAGP |
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis |
ClinVar |
PMID:25741868 PMID:33412162 |
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NCBI chr15:71,822,291...72,118,600
Ensembl chr15:71,822,291...72,118,577
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NLRP3 |
NLR family pyrin domain containing 3 |
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IAGP |
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...
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NCBI chr 1:247,416,077...247,448,817
Ensembl chr 1:247,332,331...247,449,108
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NPHP3 |
nephrocystin 3 |
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IAGP |
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 3:132,680,609...132,722,409
Ensembl chr 3:132,680,609...132,722,432
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G |
NPHP3-ACAD11 |
NPHP3-ACAD11 readthrough (NMD candidate) |
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IAGP |
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 3:132,558,138...132,722,459
Ensembl chr 3:132,558,142...132,722,459
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G |
NPHS1 |
NPHS1 adhesion molecule, nephrin |
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IAGP |
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis |
ClinVar |
PMID:9915943 PMID:11726550 PMID:11854170 PMID:18503012 PMID:18614772 PMID:19406966 PMID:19812541 PMID:20172850 PMID:20507940 PMID:20798252 PMID:21415313 PMID:22565185 PMID:24130771 PMID:24472419 PMID:24742477 PMID:24902943 PMID:24948143 PMID:25349199 PMID:25741868 PMID:26248470 PMID:26467025 PMID:26668027 PMID:26764160 PMID:27019444 PMID:27312921 PMID:28492532 PMID:29474669 PMID:30013592 PMID:31655822 PMID:31738409 More...
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NCBI chr19:35,825,372...35,852,504
Ensembl chr19:35,825,372...35,869,287
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G |
NPHS2 |
NPHS2 stomatin family member, podocin |
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IAGP |
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...
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NCBI chr 1:179,550,539...179,575,948
Ensembl chr 1:179,550,539...179,575,952
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G |
NUP107 |
nucleoporin 107 |
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IAGP |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 1 |
ClinVar |
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NCBI chr12:68,686,978...68,745,809
Ensembl chr12:68,686,951...68,745,809
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PAX2 |
paired box 2 |
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IAGP |
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...
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NCBI chr10:100,735,396...100,829,944
Ensembl chr10:100,735,396...100,829,944
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G |
PLCE1 |
phospholipase C epsilon 1 |
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IAGP |
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr10:93,993,931...94,332,823
Ensembl chr10:93,993,931...94,332,823
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PMM2 |
phosphomannomutase 2 |
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IAGP |
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...
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NCBI chr16:8,797,839...8,849,325
Ensembl chr16:8,788,823...8,862,534
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RPGRIP1L |
RPGRIP1 like |
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IAGP |
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis |
ClinVar |
PMID:19430481 PMID:20301500 PMID:25741868 PMID:28492532 |
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NCBI chr16:53,598,153...53,703,859
Ensembl chr16:53,598,153...53,703,938
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SCARB2 |
scavenger receptor class B member 2 |
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IAGP |
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr 4:76,158,737...76,234,532
Ensembl chr 4:76,158,737...76,234,536
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G |
SDCCAG8 |
SHH signaling and ciliogenesis regulator SDCCAG8 |
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IAGP |
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis |
ClinVar |
PMID:25741868 |
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NCBI chr 1:243,256,041...243,500,091
Ensembl chr 1:243,256,034...243,500,091
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G |
SLC17A5 |
solute carrier family 17 member 5 |
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IAGP |
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis |
ClinVar |
PMID:25741868 PMID:28492532 PMID:29140481 |
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NCBI chr 6:73,593,379...73,653,992
Ensembl chr 6:73,593,379...73,653,992
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G |
SMARCAL1 |
SNF2 related chromatin remodeling annealing helicase 1 |
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IAGP |
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...
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NCBI chr 2:216,412,484...216,483,053
Ensembl chr 2:216,412,383...216,483,053
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G |
TRPC6 |
transient receptor potential cation channel subfamily C member 6 |
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IAGP |
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr11:101,451,564...101,584,007
Ensembl chr11:101,451,564...101,872,562
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G |
TRPC6 |
transient receptor potential cation channel subfamily C member 6 |
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IAGP ISS EXP |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 2 | ClinVar Annotator: match by term: TRPC6-related condition OMIM:603965 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:2298509 PMID:10200986 PMID:15879175 PMID:15924139 PMID:16199547 PMID:16932363 PMID:19129465 PMID:19380626 PMID:19936226 PMID:21734084 PMID:22732337 PMID:22980509 PMID:23171048 PMID:23291369 PMID:23645677 PMID:23663351 PMID:25019165 PMID:25741868 PMID:26127002 PMID:26147534 PMID:26467025 PMID:26892346 PMID:27573339 PMID:28117080 PMID:28204945 PMID:28492532 PMID:28780565 PMID:28921387 PMID:29127259 PMID:29700422 PMID:30295827 PMID:30586318 PMID:30655312 PMID:31266804 PMID:31266820 PMID:31576025 PMID:31936014 PMID:31937884 PMID:32509715 PMID:33532864 PMID:33884742 PMID:35051376 PMID:35064937 PMID:35749414 PMID:35913909 More...
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NCBI chr11:101,451,564...101,584,007
Ensembl chr11:101,451,564...101,872,562
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CD2AP |
CD2 associated protein |
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IAGP ISS |
ClinVar Annotator: match by term: CD2AP-related condition | ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 3, susceptibility to OMIM:607832 |
OMIM ClinVar MouseDO |
PMID:9536098 PMID:10514378 PMID:12764198 PMID:17576681 PMID:17713465 PMID:18443213 PMID:19131354 PMID:22971997 PMID:24033266 PMID:25741868 PMID:26346198 PMID:28492532 PMID:30406062 PMID:30612599 PMID:31027891 PMID:33712733 PMID:34408996 PMID:36134775 More...
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NCBI chr 6:47,477,789...47,627,263
Ensembl chr 6:47,477,789...47,627,263
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CD2AP-DT |
CD2AP divergent transcript |
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IAGP |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 3, susceptibility to |
ClinVar |
PMID:25741868 |
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NCBI chr 6:47,477,243...47,478,072
Ensembl chr 6:47,476,441...47,478,160
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G |
LOC129996604 |
ATAC-STARR-seq lymphoblastoid silent region 17275 |
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IAGP |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 3, susceptibility to |
ClinVar |
PMID:25741868 |
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NCBI chr 6:47,477,551...47,478,060
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G |
APOL1 |
apolipoprotein L1 |
susceptibility |
IAGP |
ClinVar Annotator: match by term: APOL1-related condition | ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 4, susceptibility to |
OMIM ClinVar |
PMID:20635188 PMID:20647424 PMID:20668430 PMID:21997394 PMID:24033266 PMID:24206458 PMID:25741868 PMID:25788523 PMID:25993319 PMID:28218918 PMID:28492532 PMID:28650456 PMID:30332315 PMID:30340464 PMID:32581362 PMID:32675303 More...
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NCBI chr22:36,253,133...36,267,525
Ensembl chr22:36,253,071...36,267,530
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G |
ADSS1 |
adenylosuccinate synthase 1 |
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IAGP |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 |
ClinVar |
PMID:28492532 |
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NCBI chr14:104,724,229...104,747,325
Ensembl chr14:104,724,174...104,747,325
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AHNAK2 |
AHNAK nucleoprotein 2 |
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IAGP |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 |
ClinVar |
PMID:28492532 |
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NCBI chr14:104,937,253...104,978,374
Ensembl chr14:104,937,244...104,978,374
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AKT1 |
AKT serine/threonine kinase 1 |
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IAGP |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 |
ClinVar |
PMID:28492532 |
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NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,759
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G |
BRF1 |
BRF1 general transcription factor IIIB subunit |
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IAGP |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 |
ClinVar |
PMID:28492532 |
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NCBI chr14:105,209,286...105,315,589
Ensembl chr14:105,209,286...105,315,589
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G |
BTBD6 |
BTB domain containing 6 |
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IAGP |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 |
ClinVar |
PMID:28492532 |
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NCBI chr14:105,248,533...105,251,093
Ensembl chr14:105,248,533...105,251,093
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G |
CDCA4 |
cell division cycle associated 4 |
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IAGP |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 |
ClinVar |
PMID:28492532 |
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NCBI chr14:105,009,573...105,021,083
Ensembl chr14:105,009,573...105,021,083
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G |
CEP170B |
centrosomal protein 170B |
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IAGP |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 |
ClinVar |
PMID:28492532 |
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NCBI chr14:104,864,513...104,896,747
Ensembl chr14:104,865,268...104,896,747
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CLBA1 |
clathrin binding box of aftiphilin containing 1 |
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IAGP |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 |
ClinVar |
PMID:28492532 |
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NCBI chr14:104,985,788...105,001,274
Ensembl chr14:104,985,775...105,010,482
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GPR132 |
G protein-coupled receptor 132 |
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IAGP |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 |
ClinVar |
PMID:28492532 |
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NCBI chr14:105,049,395...105,065,430
Ensembl chr14:105,049,395...105,065,445
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G |
INF2 |
inverted formin 2 |
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IAGP EXP |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 | ClinVar Annotator: match by term: INF2-related condition CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:6054293 PMID:9536098 PMID:16199547 PMID:17576681 PMID:20023659 PMID:20803156 PMID:21258034 PMID:21415313 PMID:21866090 PMID:22187985 PMID:22961558 PMID:23014460 PMID:23349334 PMID:23515051 PMID:23521651 PMID:24174593 PMID:24750328 PMID:25165188 PMID:25407002 PMID:25676889 PMID:25741868 PMID:25741869 PMID:25943269 PMID:26086034 PMID:26248470 PMID:26467025 PMID:26467726 PMID:26764407 PMID:27350175 PMID:27549087 PMID:28492532 PMID:28658201 PMID:28780565 PMID:29653220 PMID:29869118 PMID:30126379 PMID:30373780 PMID:30406062 PMID:30586318 PMID:30680856 PMID:30773290 PMID:30962575 PMID:31328266 PMID:31515790 PMID:31924668 PMID:31937884 PMID:32444357 PMID:32451589 PMID:32604935 PMID:32901917 PMID:33443052 PMID:33712733 PMID:34120753 PMID:36413997 PMID:36506246 PMID:36637069 PMID:37772439 PMID:39536114 More...
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NCBI chr14:104,681,133...104,722,535
Ensembl chr14:104,681,146...104,722,535
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G |
JAG2 |
jagged canonical Notch ligand 2 |
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IAGP |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 |
ClinVar |
PMID:28492532 |
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NCBI chr14:105,140,995...105,168,776
Ensembl chr14:105,140,982...105,168,824
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G |
LOC130056627 |
ATAC-STARR-seq lymphoblastoid silent region 6191 |
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IAGP |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 |
ClinVar |
PMID:25741868 |
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NCBI chr14:104,689,642...104,689,731
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G |
LOC130056630 |
ATAC-STARR-seq lymphoblastoid silent region 6194 |
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IAGP |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:25741868 PMID:28492532 |
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NCBI chr14:104,708,728...104,708,877
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NUDT14 |
nudix hydrolase 14 |
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IAGP |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 |
ClinVar |
PMID:28492532 |
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NCBI chr14:105,172,939...105,181,312
Ensembl chr14:105,172,938...105,181,323
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G |
PACS2 |
phosphofurin acidic cluster sorting protein 2 |
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IAGP |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 |
ClinVar |
PMID:28492532 |
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NCBI chr14:105,300,774...105,398,147
Ensembl chr14:105,300,563...105,398,147
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G |
PLD4 |
phospholipase D family member 4 |
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IAGP |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 |
ClinVar |
PMID:28492532 |
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NCBI chr14:104,924,879...104,937,785
Ensembl chr14:104,924,713...104,937,761
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G |
SIVA1 |
SIVA1 apoptosis inducing factor |
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IAGP |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 |
ClinVar |
PMID:28492532 |
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NCBI chr14:104,753,147...104,759,654
Ensembl chr14:104,753,147...104,768,494
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G |
ZBTB42 |
zinc finger and BTB domain containing 42 |
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IAGP |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 |
ClinVar |
PMID:28492532 |
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NCBI chr14:104,800,554...104,804,712
Ensembl chr14:104,800,596...104,804,712
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LDHAL6B |
lactate dehydrogenase A like 6B |
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IAGP |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 6 |
ClinVar |
PMID:25741868 |
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NCBI chr15:59,206,843...59,208,588
Ensembl chr15:59,206,843...59,208,588
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G |
LOC112272600 |
Sharpr-MPRA regulatory region 4265 |
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IAGP |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 6 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr15:59,138,210...59,138,504
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G |
MYO1E |
myosin IE |
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IAGP |
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...
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NCBI chr15:59,132,434...59,372,871
Ensembl chr15:59,132,434...59,372,871
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G |
LOC110120845 |
VISTA enhancer hs229 |
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IAGP |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 7 |
ClinVar |
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NCBI chr10:100,786,833...100,789,007
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G |
PAX2 |
paired box 2 |
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IAGP |
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...
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NCBI chr10:100,735,396...100,829,944
Ensembl chr10:100,735,396...100,829,944
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ANLN |
anillin, actin binding protein |
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IAGP |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 8 ClinVar Annotator: match by term: ANLN-related condition ClinVar Annotator: match by term: ANLN-related condition | ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 8 |
OMIM ClinVar |
PMID:24676636 PMID:25741868 PMID:28106320 PMID:28492532 PMID:29869118 PMID:30076350 More...
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NCBI chr 7:36,389,862...36,453,791
Ensembl chr 7:36,389,821...36,453,791
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G |
SYNPO |
synaptopodin |
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IAGP |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 8 |
ClinVar |
PMID:25741868 PMID:33615071 |
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NCBI chr 5:150,586,010...150,659,207
Ensembl chr 5:150,601,080...150,659,207
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G |
CRB2 |
crumbs cell polarity complex component 2 |
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IAGP |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 9 |
ClinVar OMIM |
PMID:25557779 PMID:25741868 PMID:26795916 PMID:27004616 PMID:27942854 PMID:28492532 PMID:30212996 PMID:32581362 PMID:33532864 More...
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NCBI chr 9:123,354,065...123,380,326
Ensembl chr 9:123,356,170...123,380,324
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G |
TRIM8 |
tripartite motif containing 8 |
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IAGP |
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...
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NCBI chr10:102,644,479...102,658,319
Ensembl chr10:102,642,503...102,662,789
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G |
CFH |
complement factor H |
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IAGP ISO |
DNA:SNPs,Haplotype:: |
RGD |
PMID:17517971 PMID:17517971 |
RGD:7364995, RGD:7364995 |
NCBI chr 1:196,652,043...196,747,504
Ensembl chr 1:196,651,754...196,752,476
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G |
ATIC |
5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase |
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IAGP |
ClinVar Annotator: match by term: Glomerulopathy with fibronectin deposits 2 |
ClinVar |
PMID:25741868 PMID:28492532 PMID:29100092 PMID:32200603 |
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NCBI chr 2:215,312,059...215,368,592
Ensembl chr 2:215,311,956...215,349,773
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G |
FN1 |
fibronectin 1 |
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IAGP EXP |
ClinVar Annotator: match by term: Glomerulopathy with fibronectin deposits 2 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:1544672 PMID:7564073 PMID:7747733 PMID:9536098 PMID:12042895 PMID:16199547 PMID:17576681 PMID:18268355 PMID:25741868 PMID:28492532 PMID:28518168 PMID:29100092 PMID:30599297 PMID:32200603 PMID:32461654 PMID:36774238 More...
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NCBI chr 2:215,360,865...215,436,068
Ensembl chr 2:215,360,440...215,436,073
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G |
FN1-DT |
FN1 divergent transcript |
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IAGP |
ClinVar Annotator: match by term: Glomerulopathy with fibronectin deposits 2 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 2:215,435,691...215,438,945
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G |
INF2 |
inverted formin 2 |
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IAGP |
ClinVar Annotator: match by term: Glomerulopathy with fibronectin deposits 2 |
ClinVar |
PMID:25741868 |
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NCBI chr14:104,681,133...104,722,535
Ensembl chr14:104,681,146...104,722,535
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G |
LOC122861289 |
Sharpr-MPRA regulatory region 10603 |
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IAGP |
ClinVar Annotator: match by term: Glomerulopathy with fibronectin deposits 2 |
ClinVar |
PMID:25741868 PMID:28492532 PMID:29100092 PMID:32200603 |
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NCBI chr 2:215,420,546...215,420,840
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G |
LOC126806496 |
CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:216240057-216241256 |
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IAGP |
ClinVar Annotator: match by term: Glomerulopathy with fibronectin deposits 2 |
ClinVar |
PMID:18268355 PMID:25741868 PMID:28492532 PMID:29100092 |
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NCBI chr 2:215,375,334...215,376,533
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G |
LOC126806497 |
BRD4-independent group 4 enhancer GRCh37_chr2:216255920-216257119 |
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IAGP |
ClinVar Annotator: match by term: Glomerulopathy with fibronectin deposits 2 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 2:215,391,197...215,392,396
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G |
LOC126806498 |
CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:216288045-216289244 |
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IAGP |
ClinVar Annotator: match by term: Glomerulopathy with fibronectin deposits 2 |
ClinVar |
PMID:25741868 PMID:28492532 PMID:29100092 PMID:32200603 |
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NCBI chr 2:215,423,322...215,424,521
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G |
LOC126806499 |
CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:216298103-216299302 |
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IAGP |
ClinVar Annotator: match by term: Glomerulopathy with fibronectin deposits 2 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 2:215,433,380...215,434,579
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G |
ACE |
angiotensin I converting enzyme |
treatment |
ISO |
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RGD |
PMID:21718676 |
RGD:12879389 |
NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380
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G |
AGER |
advanced glycosylation end-product specific receptor |
treatment |
ISO |
associated with Diabetic Nephropathies |
RGD |
PMID:23046363 PMID:20554645 |
RGD:7243247, RGD:7244139 |
NCBI chr 6:32,180,969...32,184,253
Ensembl chr 6:32,180,968...32,184,322
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G |
AGTR1 |
angiotensin II receptor type 1 |
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ISO |
mRNA:decreased expression:kidney |
RGD |
PMID:12495295 |
RGD:6903859 |
NCBI chr 3:148,697,903...148,743,003
Ensembl chr 3:148,697,784...148,743,008
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G |
AGTR2 |
angiotensin II receptor type 2 |
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ISO |
associated with Kidney Failure, Chronic mRNA:increased expression:kidney |
RGD |
PMID:20042458 PMID:20631980 PMID:12495295 |
RGD:6903284, RGD:6903882, RGD:6903859 |
NCBI chr X:116,170,744...116,174,974
Ensembl chr X:116,170,744...116,174,974
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G |
APOE |
apolipoprotein E |
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ISO |
protein:increased expression:renal glomerulus (rat) |
RGD |
PMID:22207560 PMID:21907828 |
RGD:6903199, RGD:6903285 |
NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393
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G |
COL3A1 |
collagen type III alpha 1 chain |
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ISO |
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RGD |
PMID:20610530 |
RGD:7257557 |
NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746
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G |
ESR2 |
estrogen receptor 2 |
susceptibility |
ISO |
protein:decreased expression:renal glomerulus (mouse) |
RGD |
PMID:12000739 |
RGD:7364801 |
NCBI chr14:64,226,707...64,338,613
Ensembl chr14:64,084,232...64,338,112
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G |
FBN1 |
fibrillin 1 |
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ISO |
associated with Hypertension |
RGD |
PMID:16380460 |
RGD:7365080 |
NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721
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G |
HBEGF |
heparin binding EGF like growth factor |
induced |
IDA |
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RGD |
PMID:16107576 |
RGD:1556472 |
NCBI chr 5:140,332,843...140,346,603
Ensembl chr 5:140,332,843...140,346,603
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G |
IL1B |
interleukin 1 beta |
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ISO |
associated with Hypertension |
RGD |
PMID:19948880 |
RGD:7175503 |
NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816
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G |
MMP1 |
matrix metallopeptidase 1 |
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ISO |
associated with Hyperhomocysteinemia protein:decreased expression:kidney (rat) |
RGD |
PMID:20406136 PMID:21275176 |
RGD:7207203, RGD:7207363 |
NCBI chr11:102,789,919...102,798,160
Ensembl chr11:102,789,401...102,798,160
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G |
MMP9 |
matrix metallopeptidase 9 |
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ISO |
associated with Hyperhomocysteinemia associated with Obesity;mRNA:decreased expression:glomerulus |
RGD |
PMID:20406136 PMID:9300240 |
RGD:7207203, RGD:8547929 |
NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
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G |
NPHS1 |
NPHS1 adhesion molecule, nephrin |
treatment |
ISO |
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RGD |
PMID:22125642 |
RGD:40902998 |
NCBI chr19:35,862,915...35,869,357
Ensembl chr19:35,825,964...35,869,287
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G |
PAX2 |
paired box 2 |
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IAGP |
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...
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NCBI chr10:100,735,396...100,829,944
Ensembl chr10:100,735,396...100,829,944
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G |
PLA2G7 |
phospholipase A2 group VII |
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IMP |
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RGD |
PMID:16213192 |
RGD:7248790 |
NCBI chr 6:46,704,201...46,735,721
Ensembl chr 6:46,704,201...46,735,693
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G |
PLEKHA7 |
pleckstrin homology domain containing A7 |
ameliorates |
ISO |
compared to wild type |
RGD |
PMID:25136115 PMID:25136115 |
RGD:11079199, RGD:11079199 |
NCBI chr11:16,777,297...17,014,414
Ensembl chr11:16,777,297...17,014,415
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G |
PPARG |
peroxisome proliferator activated receptor gamma |
treatment |
ISO |
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RGD |
PMID:11318962 |
RGD:8553043 |
NCBI chr 3:12,287,368...12,434,344
Ensembl chr 3:12,287,368...12,434,356
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G |
RGS2 |
regulator of G protein signaling 2 |
susceptibility |
ISO |
associated with Hypertension |
RGD |
PMID:26606876 |
RGD:13524570 |
NCBI chr 1:192,809,039...192,812,275
Ensembl chr 1:192,809,039...192,812,275
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G |
RNLS |
renalase, FAD dependent amine oxidase |
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ISO |
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RGD |
PMID:24022426 |
RGD:7327155 |
NCBI chr10:88,171,523...88,583,318
Ensembl chr10:88,273,864...88,584,530
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G |
SERPINE1 |
serpin family E member 1 |
treatment |
ISO |
mRNA, protein:increased expression:kidney (rat) |
RGD |
PMID:26999660 PMID:27129290 |
RGD:11073618, RGD:11073688 |
NCBI chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247
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G |
SHC1 |
SHC adaptor protein 1 |
ameliorates |
ISO |
compared to SS/JrHsdMcwi |
RGD |
PMID:27270176 |
RGD:12792230 |
NCBI chr 1:154,962,298...154,974,376
Ensembl chr 1:154,962,298...154,974,395
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G |
SLC2A1 |
solute carrier family 2 member 1 |
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ISO |
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RGD |
PMID:19918242 |
RGD:12879501 |
NCBI chr 1:42,925,353...42,958,868
Ensembl chr 1:42,925,353...42,958,893
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G |
SPP1 |
secreted phosphoprotein 1 |
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ISO |
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RGD |
PMID:12675855 |
RGD:6903837 |
NCBI chr 4:87,975,714...87,983,411
Ensembl chr 4:87,975,667...87,983,532
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G |
SYNPO |
synaptopodin |
treatment |
ISO |
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RGD |
PMID:22125642 |
RGD:40902998 |
NCBI chr 5:150,586,010...150,659,207
Ensembl chr 5:150,601,080...150,659,207
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G |
TNFRSF1B |
TNF receptor superfamily member 1B |
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ISO |
associated with Hypertension |
RGD |
PMID:23389459 |
RGD:7245475 |
NCBI chr 1:12,166,991...12,209,220
Ensembl chr 1:12,166,991...12,209,228
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G |
LOC130066420 |
ATAC-STARR-seq lymphoblastoid silent region 13204 |
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IAGP |
ClinVar Annotator: match by term: Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr20:64,049,329...64,049,378
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G |
SOX18 |
SRY-box transcription factor 18 |
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IAGP |
ClinVar Annotator: match by term: Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome ClinVar Annotator: match by term: Glomerulonephritis with sparse hair and telangiectases | ClinVar Annotator: match by term: Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome |
ClinVar OMIM |
PMID:2484451 PMID:12740761 PMID:24697860 PMID:25741868 PMID:28492532 PMID:29307792 More...
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NCBI chr20:64,047,582...64,049,639
Ensembl chr20:64,047,582...64,049,639
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G |
ACE |
angiotensin I converting enzyme |
disease_progression |
IEA IAGP EXP |
ClinVar Annotator: match by term: Susceptibility to progression to renal failure in IgA nephropathy CTD Direct Evidence: marker/mechanism DNA:polymorphism:intron: |
ClinVar CTD RGD |
PMID:1313972 PMID:1319114 PMID:1328889 PMID:1386652 PMID:1976655 PMID:2847529 PMID:2849100 PMID:7593601 PMID:7729604 PMID:7783416 PMID:7854377 PMID:7909524 PMID:8131299 PMID:8131300 PMID:8136829 PMID:8170965 PMID:8208911 PMID:8298638 PMID:8314010 PMID:8541160 PMID:8644984 PMID:8675669 PMID:9120002 PMID:9236417 PMID:9259580 PMID:9699903 PMID:9737775 PMID:9916793 PMID:10099885 PMID:10636736 PMID:10643899 PMID:10841123 PMID:11687636 PMID:11956052 PMID:12220450 PMID:12666117 PMID:14657821 PMID:14872014 PMID:15110771 PMID:15277638 PMID:15381116 PMID:15531537 PMID:15534175 PMID:15635071 PMID:19221299 PMID:15118671 PMID:12220450 More...
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RGD:1331525, RGD:7257515 |
NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380
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G |
ACSM3 |
acyl-CoA synthetase medium chain family member 3 |
disease_progression |
IAGP |
DNA:polymorphism: : |
RGD |
PMID:12484505 |
RGD:7241283 |
NCBI chr16:20,674,405...20,797,581
Ensembl chr16:20,610,243...20,797,581
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G |
ADAM10 |
ADAM metallopeptidase domain 10 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:32715474 |
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NCBI chr15:58,588,809...58,749,707
Ensembl chr15:58,588,809...58,749,791
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G |
ADD1 |
adducin 1 |
disease_progression |
IAGP |
DNA:polymorphism:cds:rs4961(human) |
RGD |
PMID:19838659 |
RGD:7174725 |
NCBI chr 4:2,843,844...2,930,062
Ensembl chr 4:2,843,844...2,930,076
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G |
ADD2 |
adducin 2 |
disease_progression |
IAGP |
DNA:polymorphism:cds: rs4984(human) |
RGD |
PMID:19838659 |
RGD:7174725 |
NCBI chr 2:70,656,784...70,768,200
Ensembl chr 2:70,607,618...70,768,225
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G |
AGT |
angiotensinogen |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9259580 |
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NCBI chr 1:230,702,523...230,745,583
Ensembl chr 1:230,690,776...230,745,576
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G |
AGTR1 |
angiotensin II receptor type 1 |
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IEP |
protein:increased expression:kidney tubule |
RGD |
PMID:15930094 |
RGD:6903851 |
NCBI chr 3:148,697,903...148,743,003
Ensembl chr 3:148,697,784...148,743,008
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G |
AGTR2 |
angiotensin II receptor type 2 |
disease_progression |
IAGP IEP |
DNA:polymorphism: :1818A>T (human) protein:increased expression:kidney tubule |
RGD |
PMID:19194560 PMID:15930094 |
RGD:6903844, RGD:6903851 |
NCBI chr X:116,170,744...116,174,974
Ensembl chr X:116,170,744...116,174,974
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G |
AURKB |
aurora kinase B |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25133636 |
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NCBI chr17:8,204,731...8,210,575
Ensembl chr17:8,204,733...8,210,600
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G |
B4GALT1 |
beta-1,4-galactosyltransferase 1 |
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ISS |
OMIM:161950 | OMIM:616818 |
MouseDO |
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NCBI chr 9:33,104,077...33,185,089
Ensembl chr 9:33,100,493...33,167,336
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G |
C1QA |
complement C1q A chain |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8840296 PMID:25133636 |
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NCBI chr 1:22,636,463...22,639,678
Ensembl chr 1:22,635,077...22,639,678
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G |
C1QB |
complement C1q B chain |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25133636 |
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NCBI chr 1:22,653,236...22,661,637
Ensembl chr 1:22,652,762...22,661,637
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G |
C2 |
complement C2 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25133636 |
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NCBI chr 6:31,897,783...31,945,672
Ensembl chr 6:31,897,785...31,945,673
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G |
C3 |
complement C3 |
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IEP |
mRNA,protein:increased expression, increased activity:kidney |
RGD |
PMID:11287758 |
RGD:7175543 |
NCBI chr19:6,677,704...6,720,650
Ensembl chr19:6,677,704...6,730,562
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G |
CARD9 |
caspase recruitment domain family member 9 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25305756 |
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NCBI chr 9:136,363,956...136,373,669
Ensembl chr 9:136,363,956...136,373,681
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G |
CCL2 |
C-C motif chemokine ligand 2 |
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ISO |
protein:increased expression:kidney |
RGD |
PMID:18433541 |
RGD:2307041 |
NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208
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G |
CCL20 |
C-C motif chemokine ligand 20 |
disease_progression |
IEP |
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RGD |
PMID:23192593 |
RGD:7483632 |
NCBI chr 2:227,813,842...227,817,556
Ensembl chr 2:227,805,739...227,817,564
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G |
CCR6 |
C-C motif chemokine receptor 6 |
disease_progression |
IEP |
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RGD |
PMID:23192593 |
RGD:7483632 |
NCBI chr 6:167,111,795...167,139,141
Ensembl chr 6:167,111,807...167,139,141
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G |
CD14 |
CD14 molecule |
disease_progression |
IAGP |
DNA:polymorphism:promoter:c. -159C>T (human) |
RGD |
PMID:12566518 |
RGD:7204499 |
NCBI chr 5:140,631,732...140,633,701
Ensembl chr 5:140,631,728...140,633,700
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G |
CD163 |
CD163 molecule |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25133636 |
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NCBI chr12:7,470,811...7,503,777
Ensembl chr12:7,470,811...7,503,893
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G |
CD44 |
CD44 molecule (IN blood group) |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25133636 |
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NCBI chr11:35,139,171...35,232,402
Ensembl chr11:35,138,882...35,232,402
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G |
CFB |
complement factor B |
disease_progression |
IEP IAGP |
mRNA:increased expression:kidney protein:increased expression:serum |
RGD |
PMID:8567024 PMID:17385664 PMID:3118258 |
RGD:7242737, RGD:7242759, RGD:7242754 |
NCBI chr 6:31,946,095...31,952,084
Ensembl chr 6:31,945,650...31,952,086
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G |
CFHR1 |
complement factor H related 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21399633 |
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NCBI chr 1:196,819,731...196,832,189
Ensembl chr 1:196,819,731...196,837,159
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G |
CFHR3 |
complement factor H related 3 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21399633 |
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NCBI chr 1:196,774,840...196,795,407
Ensembl chr 1:196,774,813...196,795,407
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G |
CHGA |
chromogranin A |
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IAGP |
associated with Hypertension;DNA:polymorphism:promoter:-415T>C (human) |
RGD |
PMID:20113265 |
RGD:6906902 |
NCBI chr14:92,922,664...92,935,285
Ensembl chr14:92,923,150...92,935,285
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G |
CORO1C |
coronin 1C |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25133636 |
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NCBI chr12:108,645,109...108,731,518
Ensembl chr12:108,645,109...108,731,526
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G |
CXCR2 |
C-X-C motif chemokine receptor 2 |
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IAGP |
DNA:SNPs: :rs4674257, rs4674259 (human) |
RGD |
PMID:21214373 |
RGD:7257677 |
NCBI chr 2:218,125,294...218,137,251
Ensembl chr 2:218,125,289...218,137,251
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G |
DEFA5 |
defensin alpha 5 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22197929 PMID:25305756 |
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NCBI chr 8:7,055,304...7,056,739
Ensembl chr 8:7,055,304...7,056,739
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G |
FABP1 |
fatty acid binding protein 1 |
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IEP |
protein:increased expression:urine (human) |
RGD |
PMID:16118482 |
RGD:1578453 |
NCBI chr 2:88,122,982...88,128,062
Ensembl chr 2:88,122,982...88,128,062
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G |
FAS |
Fas cell surface death receptor |
treatment |
ISO |
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RGD |
PMID:29844269 |
RGD:13792576 |
NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605
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G |
FCAR |
Fc alpha receptor |
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IEP IMP |
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RGD |
PMID:22451718 PMID:21985370 |
RGD:7242063, RGD:7242167 |
NCBI chr19:54,874,235...54,891,420
Ensembl chr19:54,874,235...54,891,420
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G |
FCGR3A |
Fc gamma receptor IIIa |
disease_progression |
IAGP |
DNA:polymorphism:exon:p.F176V(human) |
RGD |
PMID:16221721 |
RGD:5508463 |
NCBI chr 1:161,541,759...161,550,737
Ensembl chr 1:161,541,759...161,550,968
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G |
FN1 |
fibronectin 1 |
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IEP |
protein:increased expression:kidney |
RGD |
PMID:15925904 |
RGD:7206844 |
NCBI chr 2:215,360,865...215,436,068
Ensembl chr 2:215,360,440...215,436,073
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G |
FOXM1 |
forkhead box M1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25133636 |
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NCBI chr12:2,857,680...2,877,174
Ensembl chr12:2,857,680...2,877,174
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G |
GPR183 |
G protein-coupled receptor 183 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25133636 |
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NCBI chr13:99,294,539...99,307,399
Ensembl chr13:99,294,539...99,307,399
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G |
HAVCR1 |
hepatitis A virus cellular receptor 1 |
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IEP |
protein:increased expression:urine: |
RGD |
PMID:23135864 PMID:21467131 |
RGD:7245479, RGD:7245983 |
NCBI chr 5:157,029,413...157,069,407
Ensembl chr 5:157,026,742...157,069,396
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G |
HLA-DQB1 |
major histocompatibility complex, class II, DQ beta 1 |
disease_progression |
EXP IAGP |
CTD Direct Evidence: marker/mechanism DNA:polymorphism: :HLA-DQB1*0301(human) |
CTD RGD |
PMID:25305756 PMID:7638860 |
RGD:36174018 |
NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383
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G |
HPSE |
heparanase |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25133636 |
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NCBI chr 4:83,292,461...83,335,153
Ensembl chr 4:83,292,461...83,335,153
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G |
IGF1R |
insulin like growth factor 1 receptor |
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IAGP |
DNA: snp::rs2229765 |
RGD |
PMID:21047277 |
RGD:7242795 |
NCBI chr15:98,648,539...98,964,530
Ensembl chr15:98,648,539...98,964,530
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G |
IL18 |
interleukin 18 |
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IEP |
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RGD |
PMID:22518072 |
RGD:6893446 |
NCBI chr11:112,143,260...112,164,094
Ensembl chr11:112,143,251...112,164,096
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G |
IL1A |
interleukin 1 alpha |
no_association |
IAGP |
DNA:SNP:promoter |
RGD |
PMID:21049406 |
RGD:6907116 |
NCBI chr 2:112,773,925...112,784,493
Ensembl chr 2:112,773,925...112,784,493
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G |
IL1B |
interleukin 1 beta |
no_association |
IAGP |
DNA:SNPs: :rs1143627, rs3917356, rs1143633 (human) |
RGD |
PMID:19280228 PMID:21049406 |
RGD:6907082, RGD:6907116 |
NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816
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G |
IL1RN |
interleukin 1 receptor antagonist |
susceptibility |
IAGP IDA ISO IEP |
DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human) mouse model treated with human protein response to immunoglobulin therapy rat model treated with human protein protein:decreased expression:serum, urine (human) DNA:polymorphisms:intron, 3' utr:IVS1+1890G>T, IVS1+8796A>G, *138C>G (rs928940, rs439154, rs315951) (human) |
RGD |
PMID:10916103 PMID:9370186 PMID:9844059 PMID:10079261 PMID:10566895 PMID:16209246 PMID:19280228 More...
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RGD:6906961, RGD:6909150, RGD:6909132, RGD:6909131, RGD:6907427, RGD:6907414, RGD:6907082 |
NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016
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G |
KIF15 |
kinesin family member 15 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25133636 |
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NCBI chr 3:44,761,794...44,868,687
Ensembl chr 3:44,761,721...44,873,376
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G |
LAIR1 |
leukocyte associated immunoglobulin like receptor 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25133636 |
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NCBI chr19:54,351,384...54,376,088
Ensembl chr19:54,351,384...54,370,558
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G |
LAPTM5 |
lysosomal protein transmembrane 5 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25133636 |
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NCBI chr 1:30,732,469...30,757,774
Ensembl chr 1:30,732,469...30,757,774
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G |
LCN2 |
lipocalin 2 |
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IEP |
protein:increased expression:urine: |
RGD |
PMID:21467131 |
RGD:7245983 |
NCBI chr 9:128,149,453...128,153,453
Ensembl chr 9:128,149,071...128,153,453
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G |
LHFPL2 |
LHFPL tetraspan subfamily member 2 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25133636 |
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NCBI chr 5:78,485,230...78,648,772
Ensembl chr 5:78,485,215...78,770,021
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G |
MAN2B1 |
mannosidase alpha class 2B member 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25133636 |
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NCBI chr19:12,646,512...12,666,742
Ensembl chr19:12,643,831...12,666,742
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G |
MERTK |
MER proto-oncogene, tyrosine kinase |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25133636 |
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NCBI chr 2:111,898,607...112,029,561
Ensembl chr 2:111,898,607...112,029,561
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G |
MIR20A |
microRNA 20a |
disease_progression |
IEP |
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RGD |
PMID:29459010 |
RGD:25823149 |
NCBI chr13:91,351,065...91,351,135
Ensembl chr13:91,351,065...91,351,135
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G |
MMP14 |
matrix metallopeptidase 14 |
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ISO |
mRNA:increased expression:glomerulus |
RGD |
PMID:9848780 |
RGD:2314955 |
NCBI chr14:22,836,585...22,847,758
Ensembl chr14:22,836,560...22,849,041
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G |
MS4A6A |
membrane spanning 4-domains A6A |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25133636 |
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NCBI chr11:60,171,607...60,184,666
Ensembl chr11:60,171,607...60,184,666
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G |
MTR |
5-methyltetrahydrofolate-homocysteine methyltransferase |
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IAGP |
DNA:polymorphism:Cds :2756A>G(human) |
RGD |
PMID:21737517 |
RGD:7207085 |
NCBI chr 1:236,795,281...236,903,981
Ensembl chr 1:236,795,260...236,921,278
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G |
MUC20 |
mucin 20, cell surface associated |
disease_progression |
IAGP |
DNA:repeat |
RGD |
PMID:16508246 |
RGD:7364789 |
NCBI chr 3:195,720,978...195,733,551
Ensembl chr 3:195,720,884...195,741,123
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G |
NGF |
nerve growth factor |
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IAGP |
DNA:SNP: :rs11102930 (human) |
RGD |
PMID:21178826 |
RGD:7242801 |
NCBI chr 1:115,285,917...115,338,249
Ensembl chr 1:115,285,904...115,338,770
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G |
NOTCH2 |
notch receptor 2 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:32715474 |
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NCBI chr 1:119,911,553...120,069,662
Ensembl chr 1:119,911,553...120,100,779
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G |
OTUB1 |
OTU deubiquitinase, ubiquitin aldehyde binding 1 |
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IEP |
protein:increased expression:kidney |
RGD |
PMID:22279542 |
RGD:7175260 |
NCBI chr11:63,986,438...63,998,412
Ensembl chr11:63,985,853...64,001,811
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G |
PDE5A |
phosphodiesterase 5A |
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IAGP |
DNA:SNP: :rs13124532(human) |
RGD |
PMID:20563733 |
RGD:7248685 |
NCBI chr 4:119,494,403...119,628,804
Ensembl chr 4:119,494,397...119,628,804
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G |
PIGR |
polymeric immunoglobulin receptor |
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IAGP |
ClinVar Annotator: match by term: IgA glomerulonephritis |
ClinVar |
PMID:12740691 PMID:16282702 |
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NCBI chr 1:206,928,522...206,946,466
Ensembl chr 1:206,928,522...206,946,466
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G |
PLA2G7 |
phospholipase A2 group VII |
disease_progression |
IAGP |
DNA:polymorphism:exon: |
RGD |
PMID:12220450 |
RGD:7257515 |
NCBI chr 6:46,704,201...46,735,721
Ensembl chr 6:46,704,201...46,735,693
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G |
PLAU |
plasminogen activator, urokinase |
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EXP |
CTD Direct Evidence: therapeutic |
CTD |
PMID:9002298 |
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NCBI chr10:73,909,164...73,917,494
Ensembl chr10:73,909,177...73,917,496
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G |
PRC1 |
protein regulator of cytokinesis 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25133636 |
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NCBI chr15:90,966,040...90,994,535
Ensembl chr15:90,966,040...90,995,629
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G |
SCGB1A1 |
secretoglobin family 1A member 1 |
disease_progression |
IAGP ISS |
OMIM:161950 | OMIM:616818 |
MouseDO RGD |
PMID:11967037 |
RGD:6903255 |
NCBI chr11:62,419,033...62,423,195
Ensembl chr11:62,405,103...62,423,195
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G |
SELE |
selectin E |
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IAGP |
DNA:SNP:exon:p.H468Y (human) ClinVar Annotator: match by term: IgA nephropathy, susceptibility to |
ClinVar RGD |
PMID:11828340 PMID:16282702 PMID:11828340 |
RGD:1625253 |
NCBI chr 1:169,722,640...169,734,079
Ensembl chr 1:169,722,640...169,764,705
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G |
SELL |
selectin L |
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IEP IAGP |
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RGD |
PMID:17452405 PMID:11828340 |
RGD:7175290, RGD:1625253 |
NCBI chr 1:169,690,667...169,711,620
Ensembl chr 1:169,690,665...169,711,702
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G |
SERPINB7 |
serpin family B member 7 |
disease_progression |
IAGP |
DNA:SNPs:3' utr:2093C>T, 2180C>T (human) DNA:SNP:5' utr, exon:267G>A (human) DNA:SNP: :23167A>G (human) |
RGD |
PMID:18793525 PMID:16796905 PMID:16550745 |
RGD:7207366, RGD:7207380, RGD:7207372 |
NCBI chr18:63,753,057...63,805,370
Ensembl chr18:63,752,935...63,805,376
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G |
SHH |
sonic hedgehog signaling molecule |
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IEP |
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RGD |
PMID:24744439 |
RGD:12859042 |
NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463
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G |
SLC43A3 |
solute carrier family 43 member 3 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25133636 |
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NCBI chr11:57,406,954...57,427,580
Ensembl chr11:57,406,954...57,427,580
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G |
SPRY2 |
sprouty RTK signaling antagonist 2 |
susceptibility |
IAGP EXP |
ClinVar Annotator: match by term: IgA nephropathy, susceptibility to, 3 CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM |
PMID:25741868 PMID:25782674 |
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NCBI chr13:80,335,976...80,341,126
Ensembl chr13:80,335,976...80,341,126
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G |
ST6GALNAC2 |
ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 2 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17480010 |
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NCBI chr17:76,565,377...76,585,860
Ensembl chr17:76,565,377...76,586,956
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G |
STAT4 |
signal transducer and activator of transcription 4 |
disease_progression no_association |
IAGP |
DNA:SNP: :rs7561832 (human) DNA:SNP:intron:c.274-28828C>G (rs10181656) (human) |
RGD |
PMID:20045654 PMID:20479942 |
RGD:7207872, RGD:7207878 |
NCBI chr 2:191,029,576...191,151,596
Ensembl chr 2:191,029,576...191,178,435
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G |
TGFB1 |
transforming growth factor beta 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11728950 |
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NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922
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G |
TIMP1 |
TIMP metallopeptidase inhibitor 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25133636 |
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NCBI chr X:47,582,436...47,586,789
Ensembl chr X:47,582,408...47,586,789
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G |
TLR1 |
toll like receptor 1 |
susceptibility |
IAGP |
DNA:snps:promoter, cds:g.-414C>T, p.N248S (rs5743557, rs4833095) (human) |
RGD |
PMID:21108742 |
RGD:7246898 |
NCBI chr 4:38,787,569...38,805,644
Ensembl chr 4:38,787,555...38,856,817
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G |
TLR9 |
toll like receptor 9 |
severity treatment |
ISO IAGP |
DNA, mRNA:SNP, increased expression:exon, spleen:g.159C>G (mouse) associated with Graft vs Host Disease; mRNA:increased expression:splenocyte (mouse) DNA:SNPs:intron, exon:IVS4-44A>G, c.1635G>A (rs352139, rs352140) (human) |
RGD |
PMID:18776126 PMID:21621468 PMID:21621468 PMID:18776126 |
RGD:7246889, RGD:7246893, RGD:7246893, RGD:7246889 |
NCBI chr 3:52,221,080...52,225,645
Ensembl chr 3:52,221,080...52,225,645
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G |
TNF |
tumor necrosis factor |
treatment |
IEP |
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RGD |
PMID:9844059 |
RGD:6909132 |
NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
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G |
TNFRSF1A |
TNF receptor superfamily member 1A |
treatment |
IEP IDA |
protein:increased expression:serum |
RGD |
PMID:16209246 PMID:9844059 |
RGD:6907414, RGD:6909132 |
NCBI chr12:6,328,771...6,342,076
Ensembl chr12:6,328,757...6,342,114
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G |
TNFRSF1B |
TNF receptor superfamily member 1B |
treatment |
IEP IDA |
protein:increased expression:serum |
RGD |
PMID:16209246 PMID:9844059 |
RGD:6907414, RGD:6909132 |
NCBI chr 1:12,166,991...12,209,220
Ensembl chr 1:12,166,991...12,209,228
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G |
TNFSF13 |
TNF superfamily member 13 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22197929 |
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NCBI chr17:7,558,282...7,561,601
Ensembl chr17:7,558,292...7,561,608
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G |
TNFSF13B |
TNF superfamily member 13b |
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ISS |
OMIM:161950 |
MouseDO |
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NCBI chr13:108,269,629...108,308,484
Ensembl chr13:108,251,240...108,308,484
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G |
TNFSF14 |
TNF superfamily member 14 |
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ISS |
OMIM:161950 |
MouseDO |
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NCBI chr19:6,661,253...6,670,588
Ensembl chr19:6,658,085...6,670,588
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G |
VAV3 |
vav guanine nucleotide exchange factor 3 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25305756 |
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NCBI chr 1:107,571,161...107,965,180
Ensembl chr 1:107,571,161...107,965,180
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G |
VSIG4 |
V-set and immunoglobulin domain containing 4 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25133636 |
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NCBI chr X:66,021,738...66,040,080
Ensembl chr X:66,021,738...66,040,125
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G |
WAS |
WASP actin nucleation promoting factor |
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ISS |
OMIM:161950 | OMIM:616818 |
MouseDO |
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NCBI chr X:48,676,636...48,691,427
Ensembl chr X:48,676,596...48,691,431
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G |
MIR146A |
microRNA 146a |
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ISO |
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RGD |
PMID:31666653 |
RGD:126925182 |
NCBI chr 5:160,485,352...160,485,450
Ensembl chr 5:160,485,352...160,485,450
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G |
CDKN1A |
cyclin dependent kinase inhibitor 1A |
treatment |
ISO |
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RGD |
PMID:24119646 |
RGD:10043363 |
NCBI chr 6:36,676,463...36,687,332
Ensembl chr 6:36,676,460...36,687,397
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G |
IL13 |
interleukin 13 |
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ISO |
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RGD |
PMID:17429054 |
RGD:2290347 |
NCBI chr 5:132,656,522...132,661,110
Ensembl chr 5:132,656,263...132,661,110
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G |
IL17A |
interleukin 17A |
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ISO |
Protein:increased expression:plasma (rat) |
RGD |
PMID:22772331 |
RGD:9068937 |
NCBI chr 6:52,186,375...52,190,638
Ensembl chr 6:52,186,375...52,190,638
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G |
LGALS1 |
galectin 1 |
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ISO |
protein:decreased expression:glomerulus, podocytes (rat) |
RGD |
PMID:19079321 |
RGD:2316526 |
NCBI chr22:37,675,636...37,679,802
Ensembl chr22:37,675,636...37,679,802
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G |
LMX1B |
LIM homeobox transcription factor 1 beta |
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IAGP |
ClinVar Annotator: match by term: Lipoid nephrosis |
ClinVar |
PMID:23687361 PMID:32581362 |
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NCBI chr 9:126,613,928...126,701,032
Ensembl chr 9:126,613,928...126,701,032
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G |
NPHS1 |
NPHS1 adhesion molecule, nephrin |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18256598 |
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NCBI chr19:35,825,372...35,852,504
Ensembl chr19:35,825,372...35,869,287
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G |
NR3C1 |
nuclear receptor subfamily 3 group C member 1 |
disease_progression |
IEP |
|
RGD |
PMID:17890747 |
RGD:7174718 |
NCBI chr 5:143,277,931...143,435,512
Ensembl chr 5:143,277,931...143,435,512
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G |
STAT6 |
signal transducer and activator of transcription 6 |
severity no_association |
IAGP |
DNA:polymorphism:3' utr:g.2964G>A (human) DNA:polymorphism:3' utr:2964G>A (human) DNA:repeat:exon, 5' utr:g.-3041(GT)15-16 (human) |
RGD |
PMID:12900808 PMID:15687724 PMID:19011907 |
RGD:7244138, RGD:7244146, RGD:7244144 |
NCBI chr12:57,095,408...57,111,362
Ensembl chr12:57,095,408...57,132,139
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G |
AGER |
advanced glycosylation end-product specific receptor |
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IAGP |
DNA:polymorphisms:promoter, intron:g.-429T>C rs1800625, g.-374T>A rs1800624, g.2184A>G rs3134940 (human) |
RGD |
PMID:22513366 |
RGD:6767309 |
NCBI chr 6:32,180,969...32,184,253
Ensembl chr 6:32,180,968...32,184,322
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G |
APOC3 |
apolipoprotein C3 |
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IEP |
protein:increased expression:serum |
RGD |
PMID:17957542 |
RGD:7207211 |
NCBI chr11:116,829,907...116,833,072
Ensembl chr11:116,829,706...116,833,072
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G |
C3 |
complement C3 |
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IEP EXP |
protein:decreased expression:serum CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:31182691 PMID:21888025 |
RGD:7175544 |
NCBI chr19:6,677,704...6,720,650
Ensembl chr19:6,677,704...6,730,562
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G |
CCL2 |
C-C motif chemokine ligand 2 |
severity susceptibility |
IEP IAGP |
protein:increased expression:urine (human) DNA:snp:promoter:g.-2518A>G (human) |
RGD |
PMID:8558841 PMID:15188361 |
RGD:8549732, RGD:11528534 |
NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208
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G |
CCL3 |
C-C motif chemokine ligand 3 |
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ISO |
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RGD |
PMID:18187931 |
RGD:7241814 |
NCBI chr17:36,088,256...36,090,143
Ensembl chr17:36,088,256...36,090,169
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G |
CCR1 |
C-C motif chemokine receptor 1 |
disease_progression |
ISO |
|
RGD |
PMID:15153561 |
RGD:5688164 |
NCBI chr 3:46,201,711...46,208,313
Ensembl chr 3:46,201,711...46,208,313
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G |
CD40 |
CD40 molecule |
treatment |
ISO |
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RGD |
PMID:23799000 PMID:18566369 PMID:19265127 |
RGD:7248418, RGD:7248429, RGD:7248425 |
NCBI chr20:46,118,314...46,129,858
Ensembl chr20:46,118,271...46,129,863
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G |
CD40LG |
CD40 ligand |
treatment |
IEP ISO IMP IDA |
protein:increased expression:serum |
RGD |
PMID:20726330 PMID:11751940 PMID:12632425 PMID:13130474 PMID:15693003 |
RGD:7248426, RGD:7248714, RGD:7248710, RGD:7248600, RGD:7248439 |
NCBI chr X:136,648,158...136,660,390
Ensembl chr X:136,648,158...136,660,390
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G |
CFB |
complement factor B |
|
ISO IEP |
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RGD |
PMID:10623824 PMID:3183062 PMID:21893562 |
RGD:7242736, RGD:7242763, RGD:7242755 |
NCBI chr 6:31,946,095...31,952,084
Ensembl chr 6:31,945,650...31,952,086
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G |
CFH |
complement factor H |
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IAGP |
|
RGD |
PMID:22171659 |
RGD:5684551 |
NCBI chr 1:196,652,043...196,747,504
Ensembl chr 1:196,651,754...196,752,476
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G |
CLU |
clusterin |
|
ISO |
mRNA:increased expression: epithelial cell of renal tubule |
RGD |
PMID:9546356 |
RGD:8890679 |
NCBI chr 8:27,596,917...27,614,700
Ensembl chr 8:27,596,917...27,614,700
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G |
COL1A1 |
collagen type I alpha 1 chain |
|
IEP ISO |
associated with Graft vs Host Disease mRNA, protein:increased expression:kidney cortex |
RGD |
PMID:21354048 PMID:7700025 PMID:7723234 |
RGD:5688301, RGD:5688333, RGD:5688332 |
NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632
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G |
CRP |
C-reactive protein |
no_association |
IDA IAGP |
DNA:SNP |
RGD |
PMID:18852001 PMID:17596285 PMID:20039408 PMID:15692982 |
RGD:6907400, RGD:5508454, RGD:6909146, RGD:6909145 |
NCBI chr 1:159,712,289...159,714,589
Ensembl chr 1:159,712,289...159,714,589
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G |
CSF1 |
colony stimulating factor 1 |
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ISO IEP |
|
RGD |
PMID:21885670 PMID:17659436 |
RGD:7257567, RGD:7257589 |
NCBI chr 1:109,910,506...109,930,992
Ensembl chr 1:109,910,242...109,930,992
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G |
CTLA4 |
cytotoxic T-lymphocyte associated protein 4 |
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IDA |
|
RGD |
PMID:15146424 |
RGD:7204726 |
NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965
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G |
EGF |
epidermal growth factor |
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IEP |
|
RGD |
PMID:21354048 |
RGD:5688301 |
NCBI chr 4:109,912,883...110,013,766
Ensembl chr 4:109,912,883...110,013,766
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G |
FAS |
Fas cell surface death receptor |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:33632240 PMID:38555047 |
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NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605
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G |
FCGR2A |
Fc gamma receptor IIa |
|
IAGP |
DNA:missense mutation:cds:p.H131R (human) ClinVar Annotator: match by term: Lupus nephritis, susceptibility to |
ClinVar RGD |
PMID:8636449 PMID:9843982 PMID:10675363 PMID:15367919 PMID:19915573 PMID:19965803 PMID:24033266 PMID:25741868 PMID:15004265 More...
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RGD:5147975 |
NCBI chr 1:161,505,457...161,524,048
Ensembl chr 1:161,505,430...161,524,013
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FCGR2B |
Fc gamma receptor IIb |
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ISO |
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RGD |
PMID:15681388 |
RGD:7240529 |
NCBI chr 1:161,647,243...161,678,654
Ensembl chr 1:161,663,143...161,678,654
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FCGR3A |
Fc gamma receptor IIIa |
susceptibility |
IAGP |
DNA:SNP:cds:p.V158F (human) |
RGD |
PMID:17596285 |
RGD:5508454 |
NCBI chr 1:161,541,759...161,550,737
Ensembl chr 1:161,541,759...161,550,968
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FCGR3B |
Fc gamma receptor IIIb |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16482158 |
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NCBI chr 1:161,623,196...161,631,963
Ensembl chr 1:161,623,196...161,631,963
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HLA-DQA1 |
major histocompatibility complex, class II, DQ alpha 1 |
susceptibility |
IAGP |
DNA:polymorphisms:cds:HLA-DQA1*0101 (human) DNA:polymorphisms:cds:HLA-DQA1*0102 (human) |
RGD |
PMID:12651073 PMID:12651073 |
RGD:40902999, RGD:40902999 |
NCBI chr 6:32,637,406...32,655,272
Ensembl chr 6:32,628,179...32,647,062
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HLA-DRB1 |
major histocompatibility complex, class II, DR beta 1 |
susceptibility |
IAGP |
DNA:polymorphisms:cds:HLA-DRB1*1501 (human) |
RGD |
PMID:12651073 |
RGD:40902999 |
NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848
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IFNG |
interferon gamma |
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IEP EXP IDA |
protein:increased expression:serum,urine CTD Direct Evidence: marker/mechanism protein:increased processing:kidney |
CTD RGD |
PMID:31182691 PMID:22764573 PMID:29925830 |
RGD:6893369, RGD:14974252 |
NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
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IL17A |
interleukin 17A |
treatment |
ISO |
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RGD |
PMID:25129462 |
RGD:9244623 |
NCBI chr 6:52,186,375...52,190,638
Ensembl chr 6:52,186,375...52,190,638
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IL18 |
interleukin 18 |
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ISO |
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RGD |
PMID:20980973 |
RGD:6893449 |
NCBI chr11:112,143,260...112,164,094
Ensembl chr11:112,143,251...112,164,096
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IL1B |
interleukin 1 beta |
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ISO |
mRNA:increased expression:renal glomerulus (mouse) |
RGD |
PMID:21641991 PMID:20410215 |
RGD:7175315, RGD:7175344 |
NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816
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IL1RN |
interleukin 1 receptor antagonist |
resistance |
IEP |
associated with Lupus Erythematosus, Systemic; protein:increased expression:serum (human) |
RGD |
PMID:20538031 |
RGD:6907068 |
NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016
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ITGAM |
integrin subunit alpha M |
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IAGP |
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RGD |
PMID:21719445 |
RGD:5147916 |
NCBI chr16:31,259,975...31,332,877
Ensembl chr16:31,259,967...31,332,892
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JAK1 |
Janus kinase 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:31182691 |
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NCBI chr 1:64,833,229...65,067,746
Ensembl chr 1:64,833,223...65,067,754
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KLKB1 |
kallikrein B1 |
susceptibility |
IAGP |
DNA:SNPs:promoter: |
RGD |
PMID:19307730 |
RGD:7327150 |
NCBI chr 4:186,210,853...186,258,471
Ensembl chr 4:186,226,438...186,258,471
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MBL2 |
mannose binding lectin 2 |
disease_progression |
IAGP |
DNA:polymorphism:exon: |
RGD |
PMID:24850777 |
RGD:12910847 |
NCBI chr10:52,765,380...52,772,784
Ensembl chr10:52,765,380...52,772,784
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MIR125A |
microRNA 125a |
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ISO |
RNA:decreased expression:kidney |
RGD |
PMID:30972208 |
RGD:26884458 |
NCBI chr19:51,693,254...51,693,339
Ensembl chr19:51,693,254...51,693,339
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MMP2 |
matrix metallopeptidase 2 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22479529 |
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NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691
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MMP9 |
matrix metallopeptidase 9 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22479529 |
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NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
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MPO |
myeloperoxidase |
susceptibility |
IAGP |
DNA:polymorphism: :−463G > A (human) |
RGD |
PMID:17896805 |
RGD:7174701 |
NCBI chr17:58,269,855...58,280,935
Ensembl chr17:58,269,855...58,280,935
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MTOR |
mechanistic target of rapamycin kinase |
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ISO |
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RGD |
PMID:17283580 |
RGD:7245502 |
NCBI chr 1:11,106,535...11,262,551
Ensembl chr 1:11,106,535...11,262,556
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MUC20 |
mucin 20, cell surface associated |
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ISO |
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RGD |
PMID:14565953 |
RGD:7364790 |
NCBI chr 3:195,720,978...195,733,551
Ensembl chr 3:195,720,884...195,741,123
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NR3C1 |
nuclear receptor subfamily 3 group C member 1 |
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ISO IEP |
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RGD |
PMID:21509671 PMID:17880936 |
RGD:7174713, RGD:7174734 |
NCBI chr 5:143,277,931...143,435,512
Ensembl chr 5:143,277,931...143,435,512
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OTUB1 |
OTU deubiquitinase, ubiquitin aldehyde binding 1 |
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IEP |
protein:increased expression:kidney |
RGD |
PMID:22279542 |
RGD:7175260 |
NCBI chr11:63,986,438...63,998,412
Ensembl chr11:63,985,853...64,001,811
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PDCD1 |
programmed cell death 1 |
onset |
IAGP ISO |
DNA:polymorphism: : DNA:polymorphism:intron:6867 C>T (human) |
RGD |
PMID:15934088 PMID:21041733 PMID:15352422 |
RGD:7248675, RGD:7248678, RGD:7248676 |
NCBI chr 2:241,849,884...241,858,894
Ensembl chr 2:241,849,884...241,858,894
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SELL |
selectin L |
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ISO |
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RGD |
PMID:20512127 |
RGD:7175284 |
NCBI chr 1:169,690,667...169,711,620
Ensembl chr 1:169,690,665...169,711,702
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SERPING1 |
serpin family G member 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:4014294 |
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NCBI chr11:57,597,685...57,614,848
Ensembl chr11:57,597,387...57,619,171
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SNRPE |
small nuclear ribonucleoprotein polypeptide E |
treatment |
IDA |
mouse model |
RGD |
PMID:15494537 |
RGD:10760401 |
NCBI chr 1:203,861,599...203,871,152
Ensembl chr 1:203,861,599...203,871,152
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STAT1 |
signal transducer and activator of transcription 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:31182691 |
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NCBI chr 2:190,969,149...191,014,171
Ensembl chr 2:190,908,460...191,020,960
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STAT4 |
signal transducer and activator of transcription 4 |
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ISO |
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RGD |
PMID:20980973 |
RGD:6893449 |
NCBI chr 2:191,029,576...191,151,596
Ensembl chr 2:191,029,576...191,178,435
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STAT6 |
signal transducer and activator of transcription 6 |
disease_progression |
ISO |
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RGD |
PMID:12874250 |
RGD:7244140 |
NCBI chr12:57,095,408...57,111,362
Ensembl chr12:57,095,408...57,132,139
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TLR7 |
toll like receptor 7 |
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ISO |
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RGD |
PMID:19944565 |
RGD:7246905 |
NCBI chr X:12,867,072...12,890,361
Ensembl chr X:12,867,072...12,890,361
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TLR9 |
toll like receptor 9 |
severity treatment no_association |
ISO IEP IAGP |
mRNA, protein:increased expression:kidney (mouse) associated with Graft vs Host Disease protein:increased expression:renal glomerulus (human) associated with Lupus Erythematosus, Systemic; DNA:snps:promoter, intron:g.-1486T>C, g.+1174A>G (rs187084, rs352139) (human, North Indian) DNA:snps:intron, exon:g.+1174G>A, g.+1635C>T (rs352139, rs352140) (human, Chinese) |
RGD |
PMID:23467932 PMID:17469139 PMID:21127878 PMID:19578108 PMID:22787315 PMID:20497632 More...
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RGD:7245987, RGD:7246911, RGD:7246897, RGD:7246896, RGD:7245989, RGD:7246884 |
NCBI chr 3:52,221,080...52,225,645
Ensembl chr 3:52,221,080...52,225,645
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TNF |
tumor necrosis factor |
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IEP |
protein:increased expression:glomerular mesangial cell |
RGD |
PMID:7750940 |
RGD:7394786 |
NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
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TNFRSF11B |
TNF receptor superfamily member 11b |
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IEP |
associated with Lupus Erythematosus, Systemic;protein:increased expression:urine |
RGD |
PMID:21691937 |
RGD:7205483 |
NCBI chr 8:118,923,557...118,951,885
Ensembl chr 8:118,923,557...118,951,885
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TNFRSF1A |
TNF receptor superfamily member 1A |
severity |
ISO IEP |
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RGD |
PMID:19201910 PMID:10906156 |
RGD:7245569, RGD:7245572 |
NCBI chr12:6,328,771...6,342,076
Ensembl chr12:6,328,757...6,342,114
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TNFRSF1B |
TNF receptor superfamily member 1B |
treatment |
IDA ISO |
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RGD |
PMID:22846145 PMID:22674120 |
RGD:7245541, RGD:7245544 |
NCBI chr 1:12,166,991...12,209,220
Ensembl chr 1:12,166,991...12,209,228
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VCAM1 |
vascular cell adhesion molecule 1 |
severity |
IEP |
protein:increased expression:urine |
RGD |
PMID:22788914 |
RGD:7241032 |
NCBI chr 1:100,719,742...100,739,045
Ensembl chr 1:100,719,742...100,739,045
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ALB |
albumin |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:1556257 |
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NCBI chr 4:73,404,287...73,421,482
Ensembl chr 4:73,397,114...73,421,482
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ANGPT2 |
angiopoietin 2 |
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ISO |
protein:increased expression:glomerulus (rat) |
RGD |
PMID:18272601 |
RGD:2314193 |
NCBI chr 8:6,499,632...6,563,245
Ensembl chr 8:6,499,632...6,563,409
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C1QA |
complement C1q A chain |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8840296 |
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NCBI chr 1:22,636,463...22,639,678
Ensembl chr 1:22,635,077...22,639,678
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C3 |
complement C3 |
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IAGP |
ClinVar Annotator: match by term: Mesangiocapillary glomerulonephritis |
ClinVar |
PMID:32581362 |
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NCBI chr19:6,677,704...6,720,650
Ensembl chr19:6,677,704...6,730,562
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CCL2 |
C-C motif chemokine ligand 2 |
treatment |
ISO |
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RGD |
PMID:10411686 |
RGD:8549648 |
NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208
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CCN2 |
cellular communication network factor 2 |
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ISO |
protein:increased expression:kidney, glomerulus (rat) |
RGD |
PMID:15172885 |
RGD:1601118 |
NCBI chr 6:131,948,176...131,951,372
Ensembl chr 6:131,948,176...131,951,372
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CCR6 |
C-C motif chemokine receptor 6 |
treatment |
ISO |
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RGD |
PMID:23192593 |
RGD:7483632 |
NCBI chr 6:167,111,795...167,139,141
Ensembl chr 6:167,111,807...167,139,141
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CDK2 |
cyclin dependent kinase 2 |
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ISO |
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RGD |
PMID:17893107 |
RGD:2293563 |
NCBI chr12:55,966,830...55,972,789
Ensembl chr12:55,966,781...55,972,789
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CDKN1B |
cyclin dependent kinase inhibitor 1B |
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ISO |
protein:decreased expression:kidney |
RGD |
PMID:16787597 |
RGD:2293620 |
NCBI chr12:12,717,368...12,722,369
Ensembl chr12:12,685,498...12,722,369
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CFB |
complement factor B |
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ISO IDA |
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RGD |
PMID:12091909 PMID:2329415 |
RGD:734771, RGD:7242760 |
NCBI chr 6:31,946,095...31,952,084
Ensembl chr 6:31,945,650...31,952,086
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CFH |
complement factor H |
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EXP IAGP ISS |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Non-immunoglobulin-mediated membranoproliferative glomerulonephritis OMIM:305800 ClinVar Annotator: match by term: Mesangiocapillary glomerulonephritis ClinVar Annotator: match by term: Mesangiocapillary glomerulonephritis, type II |
CTD ClinVar MouseDO |
PMID:14978182 PMID:21415311 PMID:22223606 PMID:22403278 PMID:25741868 PMID:28492532 PMID:32581362 PMID:34189567 PMID:34508573 More...
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NCBI chr 1:196,652,043...196,747,504
Ensembl chr 1:196,651,754...196,752,476
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CFHR2 |
complement factor H related 2 |
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IAGP |
ClinVar Annotator: match by term: Non-immunoglobulin-mediated membranoproliferative glomerulonephritis |
ClinVar |
PMID:25741868 PMID:28492532 PMID:29093712 PMID:34260947 |
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NCBI chr 1:196,943,738...196,959,622
Ensembl chr 1:196,943,738...196,959,622
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CFHR5 |
complement factor H related 5 |
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IAGP |
ClinVar Annotator: match by term: Mesangiocapillary glomerulonephritis, type II |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 1:196,975,034...197,009,678
Ensembl chr 1:196,975,010...197,009,678
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CFI |
complement factor I |
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ISO |
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RGD |
PMID:18202746 |
RGD:6906892 |
NCBI chr 4:109,730,982...109,801,999
Ensembl chr 4:109,731,008...109,802,150
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G |
CXCR1 |
C-X-C motif chemokine receptor 1 |
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ISO |
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RGD |
PMID:23336303 |
RGD:7207859 |
NCBI chr 2:218,162,841...218,166,962
Ensembl chr 2:218,162,841...218,166,962
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G |
EDN1 |
endothelin 1 |
treatment |
ISO |
mRNA, protein:increased expression:glomerulus (rat) |
RGD |
PMID:8569091 PMID:11601021 |
RGD:4144848, RGD:8662296 |
NCBI chr 6:12,230,516...12,297,194
Ensembl chr 6:12,290,361...12,297,194
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EP300 |
E1A binding protein p300 |
treatment |
ISO |
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RGD |
PMID:24344329 |
RGD:9588308 |
NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,510...41,180,077
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F5 |
coagulation factor V |
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ISO |
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RGD |
PMID:15172885 |
RGD:1601118 |
NCBI chr 1:169,511,951...169,586,481
Ensembl chr 1:169,511,951...169,586,588
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FN1 |
fibronectin 1 |
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ISO |
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RGD |
PMID:10082755 |
RGD:7206847 |
NCBI chr 2:215,360,865...215,436,068
Ensembl chr 2:215,360,440...215,436,073
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IL1B |
interleukin 1 beta |
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ISO |
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RGD |
PMID:21871881 |
RGD:7175308 |
NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816
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KCNT2 |
potassium sodium-activated channel subfamily T member 2 |
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IAGP |
ClinVar Annotator: match by term: Mesangiocapillary glomerulonephritis |
ClinVar |
PMID:32581362 |
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NCBI chr 1:196,225,779...196,608,440
Ensembl chr 1:196,225,779...196,609,225
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MYOC |
myocilin |
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ISO |
protein:increased expression:renal glomerulus (rat) |
RGD |
PMID:15610237 |
RGD:7401266 |
NCBI chr 1:171,635,417...171,652,688
Ensembl chr 1:171,635,417...171,652,688
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PFN1 |
profilin 1 |
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ISO |
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RGD |
PMID:8651905 |
RGD:729497 |
NCBI chr17:4,945,652...4,948,530
Ensembl chr17:4,945,652...4,949,061
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PON1 |
paraoxonase 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16175651 |
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NCBI chr 7:95,297,676...95,324,532
Ensembl chr 7:95,297,676...95,324,532
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PRF1 |
perforin 1 |
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ISO |
mRNA:increased expression:glomerulus |
RGD |
PMID:10886554 |
RGD:1599935 |
NCBI chr10:70,597,348...70,602,741
Ensembl chr10:70,597,348...70,602,759
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SPARC |
secreted protein acidic and cysteine rich |
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ISO |
mRNA:increased expression:glomerulus |
RGD |
PMID:8644857 |
RGD:2300070 |
NCBI chr 5:151,661,096...151,686,915
Ensembl chr 5:151,661,096...151,686,975
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TGFBR2 |
transforming growth factor beta receptor 2 |
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ISO |
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RGD |
PMID:11703592 |
RGD:1601601 |
NCBI chr 3:30,606,356...30,694,142
Ensembl chr 3:30,606,478...30,694,249
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TLR1 |
toll like receptor 1 |
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ISO |
mRNA:increased expression:renal glomerulus (mouse) |
RGD |
PMID:18256364 |
RGD:7246909 |
NCBI chr 4:38,787,569...38,805,644
Ensembl chr 4:38,787,555...38,856,817
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G |
TLR2 |
toll like receptor 2 |
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ISO |
mRNA:increased expression:renal glomerulus (mouse) |
RGD |
PMID:18256364 |
RGD:7246909 |
NCBI chr 4:153,684,280...153,710,637
Ensembl chr 4:153,684,050...153,706,260
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TLR4 |
toll like receptor 4 |
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ISO |
mRNA:increased expression:renal glomerulus (mouse) |
RGD |
PMID:18256364 |
RGD:7246909 |
NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735
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G |
TLR5 |
toll like receptor 5 |
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ISO |
mRNA:increased expression:renal glomerulus (mouse) |
RGD |
PMID:18256364 |
RGD:7246909 |
NCBI chr 1:223,109,404...223,143,248
Ensembl chr 1:223,109,404...223,143,292
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TLR6 |
toll like receptor 6 |
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ISO |
mRNA:increased expression:renal glomerulus (mouse) |
RGD |
PMID:18256364 |
RGD:7246909 |
NCBI chr 4:38,822,897...38,868,390
Ensembl chr 4:38,822,897...38,856,817
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TLR7 |
toll like receptor 7 |
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ISO |
mRNA:increased expression:renal glomerulus (mouse) |
RGD |
PMID:18256364 |
RGD:7246909 |
NCBI chr X:12,867,072...12,890,361
Ensembl chr X:12,867,072...12,890,361
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TLR8 |
toll like receptor 8 |
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ISO |
mRNA:increased expression:renal glomerulus (mouse) |
RGD |
PMID:18256364 |
RGD:7246909 |
NCBI chr X:12,906,620...12,923,169
Ensembl chr X:12,906,620...12,923,169
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G |
TLR9 |
toll like receptor 9 |
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ISO |
mRNA:increased expression:renal glomerulus (mouse) |
RGD |
PMID:18256364 |
RGD:7246909 |
NCBI chr 3:52,221,080...52,225,645
Ensembl chr 3:52,221,080...52,225,645
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TSLP |
thymic stromal lymphopoietin |
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EXP ISS |
CTD Direct Evidence: marker/mechanism OMIM:305800 |
CTD MouseDO |
PMID:17686814 |
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NCBI chr 5:111,070,062...111,078,026
Ensembl chr 5:111,070,062...111,078,026
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G |
A2M |
alpha-2-macroglobulin |
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ISO |
protein:increased expression:serum |
RGD |
PMID:9453001 |
RGD:10046046 |
NCBI chr12:9,067,708...9,116,229
Ensembl chr12:9,067,664...9,116,229
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G |
ABCA1 |
ATP binding cassette subfamily A member 1 |
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ISO |
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RGD |
PMID:12507911 |
RGD:1598547 |
NCBI chr 9:104,781,006...104,928,155
Ensembl chr 9:104,781,006...104,928,155
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G |
ALB |
albumin |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:1342223 PMID:9794552 PMID:11938814 PMID:12776520 PMID:15385633 PMID:17622271 More...
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NCBI chr 4:73,404,287...73,421,482
Ensembl chr 4:73,397,114...73,421,482
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G |
APOA1 |
apolipoprotein A1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7900854 |
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NCBI chr11:116,835,751...116,837,622
Ensembl chr11:116,835,751...116,837,622
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G |
APOE |
apolipoprotein E |
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ISO |
protein:increased expression:serum (rat) |
RGD |
PMID:22785171 |
RGD:6903854 |
NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393
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G |
C3 |
complement C3 |
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ISO EXP |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:25954969 PMID:10729746 |
RGD:5129563 |
NCBI chr19:6,677,704...6,720,650
Ensembl chr19:6,677,704...6,730,562
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C7 |
complement C7 |
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ISO |
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RGD |
PMID:6241952 |
RGD:1599528 |
NCBI chr 5:40,909,497...40,984,643
Ensembl chr 5:40,909,492...41,020,216
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G |
CD40 |
CD40 molecule |
treatment |
ISO |
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RGD |
PMID:23223173 PMID:23223173 |
RGD:8547786, RGD:8547786 |
NCBI chr20:46,118,314...46,129,858
Ensembl chr20:46,118,271...46,129,863
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G |
CD40LG |
CD40 ligand |
treatment |
ISO |
associated with Lupus Erythematosus, Systemic |
RGD |
PMID:17911451 PMID:7564113 |
RGD:7248430, RGD:7248720 |
NCBI chr X:136,648,158...136,660,390
Ensembl chr X:136,648,158...136,660,390
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G |
CDKN1B |
cyclin dependent kinase inhibitor 1B |
treatment |
ISO |
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RGD |
PMID:24583340 |
RGD:10045363 |
NCBI chr12:12,717,368...12,722,369
Ensembl chr12:12,685,498...12,722,369
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G |
CFB |
complement factor B |
susceptibility |
IAGP |
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RGD |
PMID:3272818 |
RGD:7242764 |
NCBI chr 6:31,946,095...31,952,084
Ensembl chr 6:31,945,650...31,952,086
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G |
CFH |
complement factor H |
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ISO |
mRNA, protein:increased expression:glomerulus |
RGD |
PMID:12911541 |
RGD:1599888 |
NCBI chr 1:196,652,043...196,747,504
Ensembl chr 1:196,651,754...196,752,476
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GAA |
alpha glucosidase |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15466083 |
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NCBI chr17:80,101,581...80,119,881
Ensembl chr17:80,101,533...80,119,881
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G |
HLA-DQA1 |
major histocompatibility complex, class II, DQ alpha 1 |
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IAGP EXP |
DNA:SNP: :rs2187668 (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:11436868 PMID:21323541 |
RGD:5147785 |
NCBI chr 6:32,637,406...32,655,272
Ensembl chr 6:32,628,179...32,647,062
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G |
HLA-DRB1 |
major histocompatibility complex, class II, DR beta 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11436868 |
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NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848
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IL1B |
interleukin 1 beta |
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ISO |
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RGD |
PMID:20588061 |
RGD:7175342 |
NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816
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G |
LRP2 |
LDL receptor related protein 2 |
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ISO |
mRNA:decreased expression:glomerulus |
RGD |
PMID:10919857 |
RGD:1641827 |
NCBI chr 2:169,127,109...169,362,534
Ensembl chr 2:169,127,109...169,362,534
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G |
LRPAP1 |
LDL receptor related protein associated protein 1 |
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ISO |
mRNA, protein:increased expression:glomerulus, epithelial cell |
RGD |
PMID:7778686 PMID:7723231 |
RGD:1641937, RGD:1641936 |
NCBI chr 4:3,503,612...3,532,422
Ensembl chr 4:3,503,612...3,532,446
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G |
MAP3K5 |
mitogen-activated protein kinase kinase kinase 5 |
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ISO |
protein:increased activity,protein:renal glomerulus: |
RGD |
PMID:18178252 |
RGD:10412641 |
NCBI chr 6:136,557,046...136,793,091
Ensembl chr 6:136,557,046...136,793,097
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MME |
membrane metalloendopeptidase |
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IAGP |
antenatal membranous glomerulonephritis ClinVar Annotator: match by term: Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization |
ClinVar RGD |
PMID:15464186 PMID:24033266 PMID:25565308 PMID:25741868 PMID:26991897 PMID:27588448 PMID:28492532 PMID:30415211 PMID:15464186 More...
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RGD:1600817 |
NCBI chr 3:155,024,202...155,183,729
Ensembl chr 3:155,024,124...155,183,704
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G |
MMP9 |
matrix metallopeptidase 9 |
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ISO |
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RGD |
PMID:8613533 |
RGD:8547919 |
NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
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G |
NPHS1 |
NPHS1 adhesion molecule, nephrin |
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ISO |
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RGD |
PMID:15882266 |
RGD:1598706 |
NCBI chr19:35,862,915...35,869,357
Ensembl chr19:35,825,964...35,869,287
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G |
NPHS2 |
NPHS2 stomatin family member, podocin |
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ISO |
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RGD |
PMID:15882266 |
RGD:1598706 |
NCBI chr 1:179,550,539...179,575,948
Ensembl chr 1:179,550,539...179,575,952
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G |
NQO1 |
NAD(P)H quinone dehydrogenase 1 |
treatment |
ISO |
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RGD |
PMID:28711658 |
RGD:13439719 |
NCBI chr16:69,709,401...69,726,560
Ensembl chr16:69,706,996...69,726,668
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G |
PTGER3 |
prostaglandin E receptor 3 |
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ISO |
mRNA:increased expression:renal cortex (rat) |
RGD |
PMID:14636300 |
RGD:10043359 |
NCBI chr 1:70,852,358...71,047,816
Ensembl chr 1:70,852,353...71,047,816
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G |
PTPRU |
protein tyrosine phosphatase receptor type U |
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ISO |
mRNA, protein:decreased expression:glomerulus |
RGD |
PMID:17457373 |
RGD:1642654 |
NCBI chr 1:29,236,522...29,326,800
Ensembl chr 1:29,236,516...29,326,813
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