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 chr 9:11,497,182...11,516,362
Ensembl chr 9:11,497,182...11,516,358
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ADM |
adrenomedullin |
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ISO |
CTD Direct Evidence: marker/mechanism associated with Anti-Glomerular Basement Membrane Disease |
RGD CTD |
PMID:15063164 PMID:15680492 PMID:16735801 PMID:20431304 |
RGD:1625317 RGD:2325320 |
NCBI chr21:33,472,197...33,474,472
Ensembl chr21:33,471,623...33,474,495
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AGT |
angiotensinogen |
disease_progression |
ISO |
CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:11459117 PMID:15888567 |
RGD:13432360 |
NCBI chr 4:8,681,192...8,694,059
Ensembl chr 4:8,683,798...8,693,880
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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:88,703,551...88,708,451
Ensembl chr X:88,705,765...88,706,853
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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 chr12:1,104,350...1,106,179
Ensembl chr12:1,104,394...1,106,177
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ALB |
albumin |
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ISO |
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 chr13:62,133,747...62,169,349
Ensembl chr13:62,053,814...62,294,709
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ALOX15 |
arachidonate 15-lipoxygenase |
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ISO |
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RGD |
PMID:7967345 |
RGD:5128564 |
NCBI chr 5:31,883,544...31,891,357
Ensembl chr 5:31,882,501...32,038,119
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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 chr25:9,320,868...9,351,056
Ensembl chr25:9,320,864...9,351,836
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ANXA5 |
annexin A5 |
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ISO |
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RGD |
PMID:11271515 |
RGD:7241853 |
NCBI chr19:18,419,936...18,450,088
Ensembl chr19:18,407,587...18,570,378
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APOE |
apolipoprotein E |
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ISO |
Apoe(-/-) Id3(-/-) double knockout |
RGD |
PMID:21801865 |
RGD:6903286 |
NCBI chr 1:110,525,717...110,528,534
Ensembl chr 1:110,525,722...110,528,440
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AXL |
AXL receptor tyrosine kinase |
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ISO |
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RGD |
PMID:11290560 |
RGD:1579882 |
NCBI chr 1:112,699,679...112,727,434
Ensembl chr 1:112,700,365...112,726,960
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BCL2L11 |
BCL2 like 11 |
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ISO |
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RGD |
PMID:10576740 |
RGD:734641 |
NCBI chr17:35,619,804...35,665,782
Ensembl chr17:35,619,582...35,664,587
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BDKRB1 |
bradykinin receptor B1 |
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ISO |
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RGD |
PMID:20448019 |
RGD:7241551 |
NCBI chr 8:65,017,655...65,028,899
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C1QA |
complement C1q A chain |
susceptibility |
ISO |
DNA:nonsense mutation (human) |
RGD |
PMID:8840296 |
RGD:1600549 |
NCBI chr 2:76,668,086...76,671,082
Ensembl chr 2:76,668,217...76,670,977
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C3 |
complement C3 |
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ISO |
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RGD |
PMID:11950907 |
RGD:5129550 |
NCBI chr20:53,566,226...53,598,365
Ensembl chr20:53,566,261...53,598,761
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C6 |
complement C6 |
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ISO |
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RGD |
PMID:10807586 |
RGD:1600489 |
NCBI chr 4:68,223,626...68,318,773
Ensembl chr 4:68,253,255...68,318,252
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CCL1 |
C-C motif chemokine ligand 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:10385480 PMID:11157384 |
RGD:8693624 |
NCBI chr 9:38,931,895...38,936,969
Ensembl chr 9:38,933,514...38,961,187
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CCL2 |
C-C motif chemokine ligand 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10385480 |
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NCBI chr 9:39,008,187...39,009,932
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CCL4 |
chemokine (C-C motif) ligand 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10385480 |
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NCBI chr 9:37,681,342...37,682,691
Ensembl chr 9:37,676,966...37,710,209
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CCL5 |
C-C motif chemokine ligand 5 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10385480 |
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NCBI chr 9:37,817,409...37,823,852
Ensembl chr 9:37,817,305...37,823,852
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CCL7 |
C-C motif chemokine ligand 7 |
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ISO |
CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:10385480 PMID:11157384 |
RGD:8693624 |
NCBI chr 9:38,994,638...38,996,103
Ensembl chr 9:38,993,911...39,010,483
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CD163 |
CD163 molecule |
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ISO |
associated with liver disease;protein:increased expression:blood serum (human) |
RGD |
PMID:26339412 |
RGD:11251207 |
NCBI chr27:37,669,757...37,700,746
Ensembl chr27:37,669,827...37,753,106
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CD59 |
CD59 molecule |
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ISO |
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RGD |
PMID:7523753 |
RGD:1600500 |
NCBI chr18:33,977,433...33,999,145
Ensembl chr18:33,977,480...33,998,329
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CFD |
complement factor D |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:14675043 |
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NCBI chr20:57,785,297...57,787,773
Ensembl chr20:57,657,154...57,787,713
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CFH |
complement factor H |
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ISO |
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RGD |
PMID:17344423 |
RGD:7365002 |
NCBI chr38:2,878,677...2,956,226
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CFI |
complement factor I |
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ISO |
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MouseDO |
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NCBI chr32:29,936,447...29,986,755
Ensembl chr32:29,936,393...29,985,724
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CNDP1 |
carnosine dipeptidase 1 |
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ISO |
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RGD |
PMID:20851293 |
RGD:7207223 |
NCBI chr 1:4,875,790...4,912,148
Ensembl chr 1:4,876,794...4,911,976
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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 chr25:39,975,547...40,106,833
Ensembl chr25:39,975,586...40,104,782
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COL4A4 |
collagen type IV alpha 4 chain |
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ISO |
ClinVar Annotator: match by term: Glomerulonephritis |
ClinVar |
PMID:12028435 PMID:12325029 PMID:16467446 PMID:17216251 PMID:17942953 PMID:20301386 PMID:21196518 PMID:24046192 PMID:24052634 PMID:24854265 PMID:25307543 PMID:25741868 PMID:28492532 PMID:28704582 PMID:30506145 PMID:32939031 PMID:36239278 More...
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NCBI chr25:39,849,680...39,976,035
Ensembl chr25:39,854,388...39,976,189
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CPB2 |
carboxypeptidase B2 |
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ISO |
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RGD |
PMID:18612543 |
RGD:7243117 |
NCBI chr22:5,074,805...5,126,635
Ensembl chr22:5,074,816...5,126,170
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CSF1 |
colony stimulating factor 1 |
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ISO |
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RGD |
PMID:11477167 |
RGD:7257579 |
NCBI chr 6:42,028,454...42,047,028
Ensembl chr 6:42,034,149...42,049,371
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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 chr 2:59,022,794...59,032,095
Ensembl chr 2:59,022,794...59,032,095
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CX3CR1 |
C-X3-C motif chemokine receptor 1 |
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ISO |
mRNA:increased expression:glomerulus |
RGD |
PMID:10432400 PMID:14605272 |
RGD:4891995 RGD:4892027 |
NCBI chr23:8,937,069...8,954,738
Ensembl chr23:8,938,906...8,952,808
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CXCL8 |
C-X-C motif chemokine ligand 8 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9403216 PMID:10910440 |
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NCBI chr13:62,435,035...62,438,354
Ensembl chr13:62,434,422...62,438,354
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CXCR3 |
C-X-C motif chemokine receptor 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12517959 |
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NCBI chr X:55,882,433...55,884,582
Ensembl chr X:55,882,433...55,884,582
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DES |
desmin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20962747 |
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NCBI chr37:25,933,525...25,939,910
Ensembl chr37:25,933,455...25,940,985
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ELANE |
elastase, neutrophil expressed |
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ISO |
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RGD |
PMID:19752320 |
RGD:6907051 |
NCBI chr20:57,789,044...57,790,932
Ensembl chr20:57,788,062...57,790,932
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EP300 |
E1A binding protein p300 |
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ISO |
protein:increased expression:glomerulus, renal tubule (human) |
RGD |
PMID:17125594 |
RGD:7327154 |
NCBI chr10:24,076,538...24,156,708
Ensembl chr10:24,077,971...24,156,396
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ESR1 |
estrogen receptor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20962747 |
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NCBI chr 1:42,081,952...42,368,544
Ensembl chr 1:42,081,969...42,368,544
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F2 |
coagulation factor II, thrombin |
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ISO |
protein:increased expression;urine |
RGD |
PMID:15164604 PMID:17519558 |
RGD:6893586 RGD:6893593 |
NCBI chr18:42,782,744...42,799,531
Ensembl chr18:42,782,751...42,799,459
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FAS |
Fas cell surface death receptor |
treatment |
ISO |
CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:9466307 PMID:21880982 PMID:36999444 |
RGD:8686428 |
NCBI chr26:38,738,811...38,763,298
Ensembl chr26:38,737,611...38,763,321
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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:16282705 PMID:16395273 |
RGD:7365077 RGD:7387262 |
NCBI chr30:14,640,973...14,864,151
Ensembl chr30:14,640,973...14,864,151
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FCGR2B |
Fc fragment of IgG receptor IIb |
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ISO |
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RGD |
PMID:19640933 |
RGD:5508403 |
NCBI chr38:20,980,777...20,994,403
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FN1 |
fibronectin 1 |
disease_progression |
ISO |
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RGD |
PMID:20484935 |
RGD:7206839 |
NCBI chr37:22,456,854...22,522,410
Ensembl chr37:22,420,428...22,523,123
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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:405650596 RGD:7242278 |
NCBI chr 8:48,330,856...48,334,273
Ensembl chr 8:48,331,026...48,333,467
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GAS6 |
growth arrest specific 6 |
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ISO |
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RGD |
PMID:11290560 |
RGD:1579882 |
NCBI chr22:60,975,196...61,005,869
Ensembl chr22:60,974,849...61,005,875
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GDNF |
glial cell derived neurotrophic factor |
treatment |
ISO |
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RGD |
PMID:22105543 |
RGD:405866361 |
NCBI chr 4:70,966,694...70,991,860
Ensembl chr 4:70,971,432...70,989,714
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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 chr17:58,289,327...58,305,315
Ensembl chr17:58,289,327...58,305,315
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IFNG |
interferon gamma |
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ISO |
CTD Direct Evidence: marker/mechanism associated with kidney transplantation;mRNA:increased expression:kidney |
CTD RGD |
PMID:1825860 PMID:21546865 PMID:22495297 |
RGD:6893377 RGD:6893462 |
NCBI chr10:10,406,866...10,411,698
Ensembl chr10:10,406,867...10,411,698
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IL10 |
interleukin 10 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10910440 |
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NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057
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IL18 |
interleukin 18 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:18462998 |
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NCBI chr 5:20,972,742...20,995,327
Ensembl chr 5:20,972,871...20,995,348
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IL1A |
interleukin 1 alpha |
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ISO |
associated with Malaria |
RGD |
PMID:10469263 |
RGD:6907108 |
NCBI chr17:36,969,581...36,979,445
Ensembl chr17:36,970,573...36,979,435
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IL1B |
interleukin 1 beta |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9403216 PMID:10910440 |
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NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458
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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 chr10:40,825,986...40,897,898
Ensembl chr10:40,827,377...40,897,596
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IL1RN |
interleukin 1 receptor antagonist |
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ISO |
mRNA:increased expression:kidney (mouse) mouse model treated with human protein |
RGD |
PMID:21304992 PMID:22241891 |
RGD:6906885 RGD:6906960 |
NCBI chr17:37,236,690...37,250,424
Ensembl chr17:37,212,751...37,249,329
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IL2 |
interleukin 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9403216 PMID:10910440 |
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NCBI chr19:17,750,780...17,756,394
Ensembl chr19:17,750,780...17,756,394
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IL2RA |
interleukin 2 receptor subunit alpha |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10910440 |
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NCBI chr 2:29,892,130...29,948,926
Ensembl chr 2:29,894,125...29,944,643
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IL6 |
interleukin 6 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9403216 |
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NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519
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INF2 |
inverted formin 2 |
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ISO |
ClinVar Annotator: match by term: Glomerulonephritis |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 8:72,275,209...72,284,991
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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 chr 9:26,065,792...26,095,649
Ensembl chr 9:26,062,393...26,094,422
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ITGAM |
integrin subunit alpha M |
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ISO |
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RGD |
PMID:19752320 |
RGD:6907051 |
NCBI chr 6:16,944,062...16,996,525
Ensembl chr 6:16,808,971...16,996,286
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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 chr 2:3,728,472...3,757,696
Ensembl chr 2:3,670,596...3,756,961
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ITGB2 |
integrin subunit beta 2 |
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ISO |
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RGD |
PMID:15277234 PMID:19752320 |
RGD:6907051 RGD:6907066 |
NCBI chr31:38,520,733...38,547,003
Ensembl chr31:38,521,103...38,547,018
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ITGB3 |
integrin subunit beta 3 |
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ISO |
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RGD |
PMID:8083378 PMID:11051455 |
RGD:6907411 RGD:6907420 |
NCBI chr 9:9,179,667...9,231,061
Ensembl chr 9:9,182,562...9,231,451
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JUND |
JunD proto-oncogene, AP-1 transcription factor subunit |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18443593 |
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NCBI chr20:44,737,021...44,738,932
Ensembl chr20:44,736,832...44,763,020
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KLKB1 |
kallikrein B1 |
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ISO |
protein:increased expression:plasma: |
RGD |
PMID:2173275 |
RGD:7327152 |
NCBI chr16:44,492,735...44,517,854
Ensembl chr16:44,469,632...44,540,292
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LAMB2 |
laminin subunit beta 2 |
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ISO |
ClinVar Annotator: match by term: Glomerulonephritis |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr20:40,036,967...40,062,628
Ensembl chr20:40,050,157...40,062,523
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LOC477072 |
serotransferrin |
severity |
ISO |
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RGD |
PMID:22607047 |
RGD:7244194 |
NCBI chr23:30,658,250...30,683,816
Ensembl chr23:30,595,704...30,683,845
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LOC478984 |
low affinity immunoglobulin gamma Fc region receptor III |
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ISO |
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RGD |
PMID:19050295 |
RGD:5508439 |
NCBI chr38:21,054,870...21,060,948
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LOC480600 |
chemokine (C-C motif) ligand 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:10385480 PMID:18941245 |
RGD:7241804 |
NCBI chr 9:37,708,561...37,710,209
Ensembl chr 9:37,676,966...37,710,209
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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 chr17:26,129,528...26,521,782
Ensembl chr17:26,130,781...26,521,779
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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 chr11:1,893,927...1,897,028
Ensembl chr11:1,894,380...1,897,752
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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 chr26:31,013,607...31,132,998
Ensembl chr26:31,013,607...31,132,998
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MIR10B |
microRNA mir-10b |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25758243 |
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NCBI chr36:19,958,913...19,959,013
Ensembl chr36:19,958,913...19,959,013
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MIR99A-2 |
microRNA mir-99a-2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25758243 |
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NCBI chr 5:12,047,369...12,047,425
Ensembl chr 5:12,047,369...12,047,425
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MMP3 |
matrix metallopeptidase 3 (stromelysin 1, progelatinase) |
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ISO |
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RGD |
PMID:15034162 PMID:23224597 |
RGD:7241253 RGD:8694105 |
NCBI chr 5:28,949,631...28,957,915
Ensembl chr 5:28,949,631...28,958,222
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MPO |
myeloperoxidase |
disease_progression |
ISO |
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RGD |
PMID:17267745 PMID:19238910 |
RGD:7174702 RGD:7174705 |
NCBI chr 9:32,927,483...32,938,007
Ensembl chr 9:32,927,483...32,937,820
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G |
MS4A1 |
membrane spanning 4-domains A1 |
|
ISO |
protein:increased expression:kidney, glomerulus (rat) |
RGD |
PMID:7538648 |
RGD:2316995 |
NCBI chr21:50,722,142...50,734,934
Ensembl chr21:50,722,041...50,733,704
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G |
MTHFR |
methylenetetrahydrofolate reductase |
|
ISO |
DNA:transition:cds:g.677C>T (human) |
RGD |
PMID:22111818 |
RGD:6893468 |
NCBI chr 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818
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G |
MYH9 |
myosin heavy chain 9 |
|
ISO |
ClinVar Annotator: match by term: Glomerulonephritis |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr10:28,063,626...28,122,953
Ensembl chr10:28,063,624...28,122,953
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G |
NGF |
nerve growth factor |
|
ISO |
CTD Direct Evidence: marker/mechanism protein:increased expression:serum |
CTD RGD |
PMID:19169037 PMID:24244623 |
RGD:7242783 |
NCBI chr17:52,900,647...52,901,607
Ensembl chr17:52,900,647...52,901,607
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G |
NPHS1 |
NPHS1 adhesion molecule, nephrin |
|
ISO |
ClinVar Annotator: match by term: Glomerulonephritis |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:116,794,891...116,814,418
Ensembl chr 1:116,794,433...116,813,546
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G |
NPPA |
natriuretic peptide A |
|
ISO |
associated with Streptococcal Infections;protein:increased expression:plasma |
RGD |
PMID:12654066 |
RGD:7248663 |
NCBI chr 2:84,406,317...84,408,115
Ensembl chr 2:84,396,073...84,408,385
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G |
PARP1 |
poly(ADP-ribose) polymerase 1 |
severity |
ISO |
|
RGD |
PMID:19454727 |
RGD:5684011 |
NCBI chr 7:38,503,072...38,542,556
Ensembl chr 7:38,503,067...38,542,127
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G |
PDGFB |
platelet derived growth factor subunit B |
treatment |
ISO |
|
RGD |
PMID:11316849 |
RGD:10449490 |
NCBI chr10:25,798,877...25,819,422
Ensembl chr10:25,798,938...25,817,746
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G |
PDGFD |
platelet derived growth factor D |
|
ISO |
|
RGD |
PMID:21866094 |
RGD:9854633 |
NCBI chr 5:27,863,739...28,092,376
Ensembl chr 5:27,863,591...28,089,936
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G |
PLA2G7 |
phospholipase A2 group VII |
|
ISO |
|
RGD |
PMID:8730430 |
RGD:7248794 |
NCBI chr12:14,866,229...14,908,230
Ensembl chr12:14,866,229...14,908,114
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G |
PLCE1 |
phospholipase C epsilon 1 |
|
ISO |
ClinVar Annotator: match by term: Glomerulonephritis |
ClinVar |
PMID:25741868 |
|
NCBI chr28:8,209,707...8,484,427
Ensembl chr28:8,210,058...8,481,770
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G |
POMC |
proopiomelanocortin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:4368615 PMID:6300362 |
|
NCBI chr17:19,431,396...19,438,247
Ensembl chr17:19,431,585...19,434,440
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G |
PPARG |
peroxisome proliferator activated receptor gamma |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:11318962 |
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NCBI chr20:6,134,618...6,265,481
Ensembl chr20:6,050,357...6,207,981
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G |
PRF1 |
perforin 1 |
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ISO |
|
RGD |
PMID:17622272 |
RGD:6482824 |
NCBI chr 4:21,497,865...21,502,429
Ensembl chr 4:21,498,249...21,500,864
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G |
PTAFR |
platelet activating factor receptor |
treatment |
ISO |
|
RGD |
PMID:1668710 |
RGD:10041057 |
NCBI chr 2:72,225,386...72,256,353
Ensembl chr 2:72,225,386...72,256,352
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G |
PTK2B |
protein tyrosine kinase 2 beta |
|
ISO |
protein:increased expression:glomerulus |
RGD |
PMID:11774117 |
RGD:729912 |
NCBI chr25:30,137,546...30,264,221
Ensembl chr25:30,138,209...30,264,133
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G |
SCGB1A1 |
secretoglobin family 1A member 1 |
|
ISO |
recombinant human SCGB1A1 in "experimental crescentic glomerulonephritis" model (mice) |
RGD |
PMID:18558621 |
RGD:6903251 |
NCBI chr18:54,187,487...54,191,493
Ensembl chr18:54,187,487...54,191,482
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G |
SERPINE1 |
serpin family E member 1 |
treatment |
ISO |
|
RGD |
PMID:12897205 |
RGD:13208810 |
NCBI chr 6:8,719,547...8,727,160
Ensembl chr 6:8,720,825...8,726,301
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G |
SMAD1 |
SMAD family member 1 |
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ISO |
protein:increased phosphorylation:glomerulus |
RGD |
PMID:15591053 |
RGD:1643235 |
NCBI chr15:44,093,491...44,171,177
Ensembl chr15:44,095,497...44,170,098
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G |
SPP1 |
secreted phosphoprotein 1 |
disease_progression |
ISO |
|
RGD |
PMID:20720406 |
RGD:6903272 |
NCBI chr32:11,354,070...11,362,325
Ensembl chr32:11,353,953...11,362,069
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G |
TBXAS1 |
thromboxane A synthase 1 |
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ISO |
|
RGD |
PMID:10560941 |
RGD:1601461 |
NCBI chr16:8,870,283...9,032,105
Ensembl chr16:8,870,284...9,023,462
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G |
TLR2 |
toll like receptor 2 |
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ISO |
|
RGD |
PMID:16849506 |
RGD:7241071 |
NCBI chr15:51,454,557...51,465,429
Ensembl chr15:51,454,695...51,465,241
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G |
TLR4 |
toll like receptor 4 |
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ISO |
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RGD |
PMID:16849506 PMID:20844472 |
RGD:4144104 RGD:7241071 |
NCBI chr11:71,356,390...71,367,166
Ensembl chr11:71,356,390...71,367,165
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G |
TNF |
tumor necrosis factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9403216 PMID:10910440 |
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NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
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G |
TNFRSF1A |
TNF receptor superfamily member 1A |
disease_progression treatment |
ISO |
protein:increased expression:urine |
RGD |
PMID:20525973 PMID:23400706 |
RGD:7245516 RGD:7245540 |
NCBI chr27:38,641,837...38,654,693
Ensembl chr27:38,638,753...38,700,282
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G |
TNFRSF1B |
TNF receptor superfamily member 1B |
treatment |
ISO |
|
RGD |
PMID:15841213 PMID:22449555 PMID:23400706 |
RGD:7245530 RGD:7245540 RGD:7245546 |
NCBI chr 2:84,140,179...84,151,219
Ensembl chr 2:84,141,911...84,157,191
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G |
TPO |
thyroid peroxidase |
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ISO |
|
RGD |
PMID:8393543 |
RGD:7207483 |
NCBI chr17:773,790...810,044
Ensembl chr17:773,790...810,043
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G |
VCAM1 |
vascular cell adhesion molecule 1 |
|
ISO |
protein:increased expression:kidney |
RGD |
PMID:18574676 |
RGD:7241215 |
NCBI chr 6:49,341,669...49,359,841
Ensembl chr 6:49,342,151...49,359,933
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G |
VEGFA |
vascular endothelial growth factor A |
treatment |
ISO |
|
RGD |
PMID:15195119 |
RGD:7421594 |
NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965
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G |
WT1 |
WT1 transcription factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20962747 |
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NCBI chr18:35,099,660...35,148,767
Ensembl chr18:35,103,934...35,148,000
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G |
AGT |
angiotensinogen |
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ISO |
mRNA, protein:increased expression:liver, plasma protein:increased expression:kidney, urine |
RGD |
PMID:7550093 PMID:21282555 |
RGD:11039051 RGD:5129185 |
NCBI chr 4:8,681,192...8,694,059
Ensembl chr 4:8,683,798...8,693,880
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G |
AGTR1 |
angiotensin II receptor type 1 |
|
ISO |
protein:increased expression:kidney |
RGD |
PMID:21282555 |
RGD:5129185 |
NCBI chr23:43,569,658...43,617,113
Ensembl chr23:43,614,035...43,616,238
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G |
BAX |
BCL2 associated X, apoptosis regulator |
|
ISO |
mRNA, protein:increased expression:kidney |
RGD |
PMID:12234300 |
RGD:1579984 |
NCBI chr 1:107,423,388...107,426,464
Ensembl chr 1:107,422,424...107,426,464
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G |
BCL2 |
BCL2 apoptosis regulator |
|
ISO |
mRNA, protein:decreased expression:kidney |
RGD |
PMID:12234300 |
RGD:1579984 |
NCBI chr 1:13,733,849...13,900,653
Ensembl chr 1:13,731,406...13,900,658
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G |
CCL17 |
C-C motif chemokine ligand 17 |
|
ISO |
mRNA:increased expression:glomerulus |
RGD |
PMID:20071465 |
RGD:4145614 |
NCBI chr 2:59,001,463...59,014,347
Ensembl chr 2:59,001,464...59,005,230
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G |
CCL2 |
C-C motif chemokine ligand 2 |
treatment |
ISO |
mRNA:increased expression:glomerulus |
RGD |
PMID:17898087 PMID:20071465 PMID:21894146 |
RGD:2307059 RGD:4145614 RGD:6218988 |
NCBI chr 9:39,008,187...39,009,932
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G |
CCL22 |
C-C motif chemokine ligand 22 |
|
ISO |
mRNA, protein:increased expression:glomerulus |
RGD |
PMID:12651599 |
RGD:2306306 |
NCBI chr 2:59,039,650...59,045,519
Ensembl chr 2:59,040,539...59,045,625
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G |
CCL4 |
chemokine (C-C motif) ligand 4 |
|
ISO |
mRNA:increased expression:glomerulus |
RGD |
PMID:17898087 |
RGD:2307059 |
NCBI chr 9:37,681,342...37,682,691
Ensembl chr 9:37,676,966...37,710,209
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G |
CCL5 |
C-C motif chemokine ligand 5 |
|
ISO |
mRNA:increased expression:glomerulus |
RGD |
PMID:17898087 |
RGD:2307059 |
NCBI chr 9:37,817,409...37,823,852
Ensembl chr 9:37,817,305...37,823,852
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G |
CD274 |
CD274 molecule |
treatment |
ISO |
|
RGD |
PMID:21965585 |
RGD:7248671 |
NCBI chr 1:93,461,735...93,605,772
Ensembl chr 1:93,585,518...93,603,522
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G |
CD40 |
CD40 molecule |
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ISO |
|
RGD |
PMID:15210767 |
RGD:7248442 |
NCBI chr24:33,352,992...33,383,488
Ensembl chr24:33,372,930...33,383,301
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G |
CD40LG |
CD40 ligand |
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ISO |
|
RGD |
PMID:15458437 |
RGD:5508170 |
NCBI chr X:107,001,421...107,023,007
Ensembl chr X:107,010,890...107,023,006
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G |
CD80 |
CD80 molecule |
|
ISO |
|
RGD |
PMID:10712436 |
RGD:6902936 |
NCBI chr33:23,177,136...23,208,421
Ensembl chr33:23,177,138...23,201,380
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G |
CFB |
complement factor B |
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ISO |
|
RGD |
PMID:22492944 |
RGD:7242700 |
NCBI chr12:1,400,143...1,406,267
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G |
CLU |
clusterin |
|
ISO |
protein:increased expression:urine |
RGD |
PMID:23791361 |
RGD:9068422 |
NCBI chr25:29,982,811...29,999,565
Ensembl chr25:29,982,811...29,999,563
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G |
CSF1 |
colony stimulating factor 1 |
treatment |
ISO |
|
RGD |
PMID:19242505 |
RGD:7257569 |
NCBI chr 6:42,028,454...42,047,028
Ensembl chr 6:42,034,149...42,049,371
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G |
CSF1R |
colony stimulating factor 1 receptor |
treatment ameliorates |
ISO |
|
RGD |
PMID:19242505 PMID:21519331 |
RGD:151665824 RGD:7257569 |
NCBI chr 4:58,980,699...59,010,683
Ensembl chr 4:58,980,788...59,010,510
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G |
CTLA4 |
cytotoxic T-lymphocyte associated protein 4 |
treatment |
ISO |
|
RGD |
PMID:8206086 PMID:10712436 |
RGD:11352257 RGD:6902936 |
NCBI chr37:12,647,712...12,653,874
Ensembl chr37:12,634,563...12,653,874
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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 chr 2:59,022,794...59,032,095
Ensembl chr 2:59,022,794...59,032,095
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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 chr23:8,937,069...8,954,738
Ensembl chr23:8,938,906...8,952,808
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G |
CXCL12 |
C-X-C motif chemokine ligand 12 |
|
ISO |
mRNA:increased expression:glomerulus |
RGD |
PMID:17557270 |
RGD:2306579 |
NCBI chr28:2,895,916...2,903,543
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G |
DLA-DRB1 |
MHC class II DLA DRB1 beta chain |
susceptibility |
ISO |
DNA:polymorphism (human) |
RGD |
PMID:21569485 |
RGD:5147561 |
NCBI chr12:2,151,409...2,164,564
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G |
DUSP1 |
dual specificity phosphatase 1 |
|
ISO |
mRNA:increased expression:glomerulus |
RGD |
PMID:8587253 |
RGD:633769 |
NCBI chr 4:39,588,833...39,591,065
Ensembl chr 4:39,588,339...39,590,514
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G |
GP6 |
glycoprotein VI platelet |
|
ISO |
|
RGD |
PMID:20651232 |
RGD:7242710 |
NCBI chr 1:102,586,229...102,612,067
Ensembl chr 1:102,585,544...102,613,905
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G |
IL10 |
interleukin 10 |
treatment |
ISO |
|
RGD |
PMID:23826305 |
RGD:7365004 |
NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057
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G |
IL17A |
interleukin 17A |
treatment |
ISO |
|
RGD |
PMID:23826305 |
RGD:7365004 |
NCBI chr12:19,854,129...19,862,521
Ensembl chr12:19,854,129...19,862,513
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G |
IL18 |
interleukin 18 |
|
ISO |
|
RGD |
PMID:22046355 |
RGD:6893447 |
NCBI chr 5:20,972,742...20,995,327
Ensembl chr 5:20,972,871...20,995,348
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G |
IL1B |
interleukin 1 beta |
|
ISO |
mRNA:increased expression:kidney (mouse) mRNA, protein:increased expression:kidney |
RGD |
PMID:9198037 PMID:22046355 |
RGD:6893447 RGD:7401232 |
NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458
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G |
IL1RN |
interleukin 1 receptor antagonist |
|
ISO |
|
RGD |
PMID:20071465 |
RGD:4145614 |
NCBI chr17:37,236,690...37,250,424
Ensembl chr17:37,212,751...37,249,329
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G |
IL4 |
interleukin 4 |
|
ISO |
|
RGD |
PMID:9350645 PMID:17898087 |
RGD:2307059 RGD:2317673 |
NCBI chr11:20,972,693...20,981,539
Ensembl chr11:20,972,690...20,981,534
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G |
ITGA4 |
integrin subunit alpha 4 |
treatment |
ISO |
|
RGD |
PMID:7679412 PMID:9032136 |
RGD:2308810 RGD:9698425 |
NCBI chr36:24,670,464...24,686,719
Ensembl chr36:24,653,408...24,729,057
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G |
LOC478984 |
low affinity immunoglobulin gamma Fc region receptor III |
no_association |
ISO |
DNA:polymorphism:exon:(rs396991)(human) DNA:cnv: : |
RGD |
PMID:19640933 PMID:19946017 |
RGD:5508400 RGD:5508403 |
NCBI chr38:21,054,870...21,060,948
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G |
LOC490356 |
lymphotactin |
|
ISO |
mRNA:increased expression:glomerulus |
RGD |
PMID:9717977 |
RGD:8693304 |
NCBI chr 7:29,986,433...29,991,096
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G |
MAPK14 |
mitogen-activated protein kinase 14 |
|
ISO |
|
RGD |
PMID:21894146 |
RGD:6218988 |
NCBI chr12:5,145,647...5,221,558
Ensembl chr12:5,146,037...5,220,603
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G |
MAPK8 |
mitogen-activated protein kinase 8 |
|
ISO |
|
RGD |
PMID:21894146 |
RGD:6218988 |
NCBI chr28:323,361...410,367
Ensembl chr28:368,513...406,401
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G |
MIF |
macrophage migration inhibitory factor |
|
ISO |
|
RGD |
PMID:10780884 |
RGD:1642011 |
|
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G |
MMP12 |
matrix metallopeptidase 12 |
|
ISO |
|
RGD |
PMID:21894146 |
RGD:6218988 |
NCBI chr 5:28,918,626...28,933,404
Ensembl chr 5:28,918,594...28,933,309
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G |
MMP14 |
matrix metallopeptidase 14 |
|
ISO |
mRNA:increased expression:kidney, macrophage |
RGD |
PMID:10878552 |
RGD:2314954 |
NCBI chr 8:3,183,419...3,193,079
Ensembl chr 8:3,183,606...3,194,122
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G |
NOS2 |
nitric oxide synthase 2 |
|
ISO |
|
RGD |
PMID:21894146 |
RGD:6218988 |
NCBI chr 9:42,171,821...42,210,217
Ensembl chr 9:42,171,821...42,208,588
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G |
NPPB |
natriuretic peptide B |
|
ISO |
|
RGD |
PMID:11729234 |
RGD:7248605 |
NCBI chr 2:84,395,844...84,397,473
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G |
PDCD1 |
programmed cell death 1 |
treatment |
ISO |
|
RGD |
PMID:21965585 |
RGD:7248671 |
NCBI chr25:51,606,559...51,618,903
Ensembl chr25:51,608,173...51,618,723
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G |
PPARA |
peroxisome proliferator activated receptor alpha |
|
ISO |
|
RGD |
PMID:17888025 |
RGD:5563035 |
NCBI chr10:19,934,020...20,006,096
Ensembl chr10:19,934,165...20,006,146
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G |
PTK2B |
protein tyrosine kinase 2 beta |
|
ISO |
protein:increased expression:glomerulus |
RGD |
PMID:11774117 |
RGD:729912 |
NCBI chr25:30,137,546...30,264,221
Ensembl chr25:30,138,209...30,264,133
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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 9:52,429,204...52,566,775
Ensembl chr 9:52,450,597...52,563,778
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G |
SELP |
selectin P |
|
ISO |
|
RGD |
PMID:21894146 |
RGD:6218988 |
NCBI chr 7:28,956,428...28,997,266
Ensembl chr 7:28,958,486...28,996,313
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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 4:35,961,394...35,973,733
Ensembl chr 4:35,961,958...35,973,657
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G |
SLIT2 |
slit guidance ligand 2 |
|
ISO |
mRNA:decreased expression:kidney, glomerulus |
RGD |
PMID:15215188 |
RGD:2316132 |
NCBI chr 3:88,964,707...89,311,817
Ensembl chr 3:88,966,232...89,312,955
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G |
SPP1 |
secreted phosphoprotein 1 |
|
ISO |
|
RGD |
PMID:20504883 |
RGD:6903276 |
NCBI chr32:11,354,070...11,362,325
Ensembl chr32:11,353,953...11,362,069
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G |
SYK |
spleen associated tyrosine kinase |
|
ISO |
|
RGD |
PMID:21894146 |
RGD:6218988 |
NCBI chr 1:95,903,501...95,955,577
Ensembl chr 1:95,903,566...95,955,583
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G |
TNF |
tumor necrosis factor |
|
ISO |
|
RGD |
PMID:21894146 |
RGD:6218988 |
NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
|
|
G |
VCAM1 |
vascular cell adhesion molecule 1 |
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ISO |
protein:increased expression:urine, serum: |
RGD |
PMID:23460853 |
RGD:7241232 |
NCBI chr 6:49,341,669...49,359,841
Ensembl chr 6:49,342,151...49,359,933
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G |
C1QA |
complement C1q A chain |
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ISO |
ClinVar Annotator: match by term: C1Q deficiency |
ClinVar |
PMID:7594474 PMID:8840296 PMID:9225968 PMID:9590289 PMID:21654842 PMID:22472776 PMID:25741868 PMID:26563161 PMID:28492532 PMID:29739689 PMID:30008451 More...
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NCBI chr 2:76,668,086...76,671,082
Ensembl chr 2:76,668,217...76,670,977
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G |
C1QB |
complement C1q B chain |
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ISO |
ClinVar Annotator: match by term: C1Q deficiency |
ClinVar |
PMID:17513176 PMID:21654842 PMID:25741868 PMID:28492532 |
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NCBI chr 2:76,650,440...76,655,546
Ensembl chr 2:76,650,586...76,655,549
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G |
C1QC |
complement C1q C chain |
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ISO |
ClinVar Annotator: match by term: C1Q deficiency |
ClinVar |
PMID:7029321 PMID:7900940 PMID:8630118 PMID:20635792 PMID:21654842 PMID:24157463 PMID:25741868 PMID:28082982 PMID:28492532 PMID:30008451 PMID:31357913 More...
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NCBI chr 2:76,660,039...76,664,602
Ensembl chr 2:76,660,035...76,664,577
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G |
C1QA |
complement C1q A chain |
|
ISO |
ClinVar Annotator: match by term: C1Q deficiency 1 | ClinVar Annotator: match by term: C1QA-related condition |
OMIM ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 2:76,668,086...76,671,082
Ensembl chr 2:76,668,217...76,670,977
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G |
C1QB |
complement C1q B chain |
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ISO |
ClinVar Annotator: match by term: C1Q deficiency 2 | ClinVar Annotator: match by term: C1QB-related condition |
OMIM ClinVar |
PMID:2894352 PMID:24160257 PMID:25741868 PMID:28492532 |
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NCBI chr 2:76,650,440...76,655,546
Ensembl chr 2:76,650,586...76,655,549
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G |
C1QC |
complement C1q C chain |
|
ISO |
ClinVar Annotator: match by term: C1Q deficiency 3 | ClinVar Annotator: match by term: C1QC-related condition |
OMIM ClinVar |
PMID:7029321 PMID:8630118 PMID:24157463 PMID:28492532 |
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NCBI chr 2:76,660,039...76,664,602
Ensembl chr 2:76,660,035...76,664,577
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G |
CFH |
complement factor H |
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ISO |
ClinVar Annotator: match by term: C3 GLOMERULOPATHY 3 | ClinVar Annotator: match by term: CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II |
ClinVar |
PMID:8072530 PMID:9536098 PMID:11158219 PMID:11170895 PMID:11978762 PMID:12424708 PMID:12697737 PMID:15761120 PMID:15870199 PMID:16299065 PMID:16338962 PMID:16601698 PMID:16619239 PMID:17018561 PMID:17576681 PMID:17599974 PMID:17947292 PMID:18235085 PMID:18252712 PMID:18557729 PMID:19190809 PMID:19259132 PMID:19297022 PMID:19454698 PMID:19633317 PMID:20016463 PMID:20059470 PMID:20203157 PMID:21317894 PMID:21415311 PMID:21909106 PMID:22019782 PMID:22171659 PMID:22223606 PMID:22389686 PMID:22403278 PMID:22410797 PMID:22456601 PMID:23431077 PMID:23685748 PMID:23852337 PMID:24036949 PMID:24036952 PMID:24498017 PMID:25037630 PMID:25087612 PMID:25741868 PMID:25814826 PMID:25880396 PMID:26215151 PMID:26376859 PMID:26501415 PMID:26559391 PMID:26691988 PMID:26826462 PMID:27718086 PMID:28011711 PMID:28492532 PMID:28859202 PMID:28941939 PMID:29410599 PMID:29500241 PMID:29888403 PMID:30560448 PMID:30674459 PMID:31447099 PMID:31575699 PMID:31589614 PMID:33519811 PMID:34169201 PMID:34189567 PMID:34260947 PMID:34508573 PMID:34748552 PMID:35925583 PMID:36246952 PMID:36445700 More...
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NCBI chr38:2,878,677...2,956,226
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G |
CFHR5 |
complement factor H related 5 |
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ISO |
ClinVar Annotator: match by term: C3 glomerulonephritis | ClinVar Annotator: match by term: CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II | ClinVar Annotator: match by term: CFHR5 deficiency |
OMIM ClinVar |
PMID:16299065 PMID:17000000 PMID:19365580 PMID:20513133 PMID:20800271 PMID:22503529 PMID:22527104 PMID:22622361 PMID:24033266 PMID:25260719 PMID:25741868 PMID:26825529 PMID:27064621 PMID:28054583 PMID:28492532 PMID:28750028 PMID:29148534 PMID:30225434 PMID:30295827 PMID:31664448 PMID:31848144 PMID:32723786 PMID:32928961 PMID:33213850 PMID:33367879 PMID:34238373 More...
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NCBI chr 7:5,723,819...5,752,881
Ensembl chr 7:5,724,129...5,752,816
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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 chr 2:59,022,794...59,032,095
Ensembl chr 2:59,022,794...59,032,095
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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 chr23:8,937,069...8,954,738
Ensembl chr23:8,938,906...8,952,808
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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 chr 9:39,008,187...39,009,932
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G |
CD40 |
CD40 molecule |
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ISO |
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RGD |
PMID:14569091 |
RGD:7248599 |
NCBI chr24:33,352,992...33,383,488
Ensembl chr24:33,372,930...33,383,301
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G |
CD40LG |
CD40 ligand |
treatment |
ISO |
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RGD |
PMID:14569091 |
RGD:7248599 |
NCBI chr X:107,001,421...107,023,007
Ensembl chr X:107,010,890...107,023,006
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G |
CSF1R |
colony stimulating factor 1 receptor |
treatment |
ISO |
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RGD |
PMID:23408165 |
RGD:151665815 |
NCBI chr 4:58,980,699...59,010,683
Ensembl chr 4:58,980,788...59,010,510
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G |
IL1B |
interleukin 1 beta |
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ISO |
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RGD |
PMID:19959716 |
RGD:7175502 |
NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458
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G |
IL1RN |
interleukin 1 receptor antagonist |
treatment |
ISO |
human protein in a rat model |
RGD |
PMID:7637259 |
RGD:8551712 |
NCBI chr17:37,236,690...37,250,424
Ensembl chr17:37,212,751...37,249,329
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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 chr20:44,737,021...44,738,932
Ensembl chr20:44,736,832...44,763,020
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G |
LOC480600 |
chemokine (C-C motif) ligand 3 |
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ISO |
associated with Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis |
RGD |
PMID:17898087 PMID:18846416 |
RGD:2307059 RGD:7241813 |
NCBI chr 9:37,708,561...37,710,209
Ensembl chr 9:37,676,966...37,710,209
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G |
MMP12 |
matrix metallopeptidase 12 |
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ISO |
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RGD |
PMID:12626598 PMID:20488952 |
RGD:2325762 RGD:737630 |
NCBI chr 5:28,918,626...28,933,404
Ensembl chr 5:28,918,594...28,933,309
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G |
MMP3 |
matrix metallopeptidase 3 (stromelysin 1, progelatinase) |
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ISO |
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RGD |
PMID:11095647 |
RGD:7241255 |
NCBI chr 5:28,949,631...28,957,915
Ensembl chr 5:28,949,631...28,958,222
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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 chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293
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G |
MTOR |
mechanistic target of rapamycin kinase |
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ISO |
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RGD |
PMID:21403644 |
RGD:7245940 |
NCBI chr 2:84,818,893...84,939,283
Ensembl chr 2:84,787,708...84,939,114
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G |
STAT6 |
signal transducer and activator of transcription 6 |
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ISO |
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RGD |
PMID:21985369 |
RGD:7243976 |
NCBI chr10:1,232,515...1,247,011
Ensembl chr10:1,233,691...1,247,075
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G |
TLR9 |
toll like receptor 9 |
severity |
ISO |
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RGD |
PMID:20847283 |
RGD:7246899 |
NCBI chr20:37,529,322...37,547,117
Ensembl chr20:37,542,340...37,547,114 Ensembl chr20:37,542,340...37,547,114
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G |
ACE2 |
angiotensin converting enzyme 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16723697 |
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NCBI chr X:11,798,839...11,839,591
Ensembl chr X:11,798,839...11,900,594
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G |
ACTA2 |
actin alpha 2, smooth muscle |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20493835 |
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NCBI chr26:38,700,434...38,714,915
Ensembl chr26:38,700,480...38,711,753
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G |
ACTN4 |
actinin alpha 4 |
susceptibility |
ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal |
RGD ClinVar |
PMID:10700177 PMID:16251236 PMID:18594871 PMID:19142020 PMID:19956976 PMID:21680739 PMID:22732337 PMID:23890478 PMID:24130771 PMID:25741868 PMID:26248470 PMID:26346198 PMID:26467025 PMID:27535533 PMID:28492532 PMID:29869118 PMID:31027891 PMID:31930129 More...
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RGD:1598731 |
NCBI chr 1:114,354,993...114,427,997
Ensembl chr 1:114,309,693...114,427,991
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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:11575049 RGD:2292230 |
NCBI chr19:35,097,968...35,133,330
Ensembl chr19:35,098,639...35,169,724
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G |
AGT |
angiotensinogen |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:19858406 PMID:21357516 |
RGD:5129175 |
NCBI chr 4:8,681,192...8,694,059
Ensembl chr 4:8,683,798...8,693,880
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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 chr23:43,569,658...43,617,113
Ensembl chr23:43,614,035...43,616,238
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G |
AGTR2 |
angiotensin II receptor type 2 |
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ISO |
protein:increased expression:kidney cortex |
RGD |
PMID:21357516 |
RGD:5129175 |
NCBI chr X:88,703,551...88,708,451
Ensembl chr X:88,705,765...88,706,853
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G |
ANGPT2 |
angiopoietin 2 |
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ISO |
mRNA, protein:increased expression:glomerulus (rat) |
RGD |
PMID:16628643 |
RGD:2314213 |
NCBI chr16:58,404,049...58,458,344
Ensembl chr16:58,405,259...58,457,701
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G |
ANLN |
anillin, actin binding protein |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr14:47,805,113...47,854,749
Ensembl chr14:47,804,845...47,853,633
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G |
ARHGAP24 |
Rho GTPase activating protein 24 |
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ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis |
ClinVar |
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NCBI chr32:8,838,567...9,574,712
Ensembl chr32:9,073,260...9,579,472
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G |
AXDND1 |
axonemal dynein light chain domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal |
ClinVar |
PMID:8589695 PMID:10742096 PMID:11805166 PMID:15253708 PMID:15327385 PMID:18823551 PMID:19406966 PMID:20947785 PMID:21355056 PMID:24509478 PMID:24742477 PMID:25741868 PMID:28492532 PMID:30655312 PMID:32581362 More...
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NCBI chr 7:20,375,973...20,480,886
Ensembl chr 7:20,383,249...20,480,823
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G |
B9D2 |
B9 domain containing 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16191423 PMID:18682491 PMID:20493835 |
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NCBI chr 1:112,621,832...112,627,726
Ensembl chr 1:112,621,633...112,643,885
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G |
BDKRB1 |
bradykinin receptor B1 |
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ISO |
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RGD |
PMID:21412216 |
RGD:7175321 |
NCBI chr 8:65,017,655...65,028,899
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G |
C2 |
complement C2 |
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ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis |
ClinVar |
PMID:2249879 PMID:6308626 PMID:8181962 PMID:16518403 PMID:16936732 PMID:18806293 PMID:21541267 PMID:24033266 PMID:25741868 PMID:28492532 More...
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NCBI chr12:1,363,656...1,399,732
Ensembl chr12:1,363,803...1,399,728
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G |
C3 |
complement C3 |
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ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis |
ClinVar |
PMID:1976733 PMID:7870343 PMID:16687714 PMID:17634448 PMID:17767156 PMID:18325906 PMID:19168221 PMID:19259132 PMID:20664795 PMID:21576320 PMID:22718507 PMID:23112567 PMID:23455636 PMID:25741868 PMID:28492532 More...
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NCBI chr20:53,566,226...53,598,365
Ensembl chr20:53,566,261...53,598,761
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G |
CASP9 |
caspase 9 |
treatment |
ISO |
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RGD |
PMID:28245472 |
RGD:13782344 |
NCBI chr 2:82,033,759...82,076,710
Ensembl chr 2:82,031,563...82,090,484
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G |
CAT |
catalase |
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ISO |
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RGD |
PMID:22443450 |
RGD:7205647 |
NCBI chr18:33,383,005...33,422,447
Ensembl chr18:33,383,005...33,422,447
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G |
CCN2 |
cellular communication network factor 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17121042 |
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NCBI chr 1:25,508,082...25,511,058
Ensembl chr 1:25,507,662...25,510,145
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G |
CD2AP |
CD2 associated protein |
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ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr12:15,538,215...15,683,619
Ensembl chr12:15,538,356...15,681,011
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G |
CFB |
complement factor B |
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ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis |
ClinVar |
PMID:2249879 PMID:6308626 PMID:8181962 PMID:16518403 PMID:16936732 PMID:18806293 PMID:21541267 PMID:24033266 PMID:25741868 PMID:28492532 More...
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NCBI chr12:1,400,143...1,406,267
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G |
CFH |
complement factor H |
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ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis |
ClinVar |
PMID:8072530 PMID:15870199 PMID:16299065 PMID:17089378 PMID:17947292 PMID:18252712 PMID:19259132 PMID:21909106 PMID:25741868 PMID:28492532 PMID:34189567 PMID:35925583 More...
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NCBI chr38:2,878,677...2,956,226
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G |
CFI |
complement factor I |
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ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis |
ClinVar |
PMID:18825487 PMID:25741868 PMID:28492532 |
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NCBI chr32:29,936,447...29,986,755
Ensembl chr32:29,936,393...29,985,724
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G |
CMAS |
cytidine monophosphate N-acetylneuraminic acid synthetase |
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ISO |
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MouseDO |
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NCBI chr27:25,097,907...25,117,003
Ensembl chr27:25,098,091...25,116,965
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G |
COL4A1 |
collagen type IV alpha 1 chain |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16191423 PMID:18682491 |
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NCBI chr22:58,511,210...58,651,949
Ensembl chr22:58,512,212...58,588,666
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G |
COL4A3 |
collagen type IV alpha 3 chain |
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ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis |
ClinVar |
PMID:14871398 PMID:17216251 PMID:18385178 PMID:24033266 PMID:24854265 PMID:25741868 PMID:26346198 PMID:26467025 PMID:28492532 PMID:29924831 PMID:30245029 More...
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NCBI chr25:39,975,547...40,106,833
Ensembl chr25:39,975,586...40,104,782
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G |
COL4A4 |
collagen type IV alpha 4 chain |
|
ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis |
ClinVar |
PMID:12028435 PMID:15618242 PMID:17396119 PMID:19129241 PMID:20029656 PMID:21196518 PMID:24033266 PMID:24052634 PMID:24522496 PMID:24854265 PMID:25307543 PMID:25514610 PMID:25741868 PMID:26467025 PMID:26809805 PMID:27281700 PMID:28492532 PMID:31049720 PMID:31922066 More...
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NCBI chr25:39,849,680...39,976,035
Ensembl chr25:39,854,388...39,976,189
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G |
COL4A5 |
collagen type IV alpha 5 chain |
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ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis |
ClinVar |
PMID:8648925 PMID:9195222 PMID:10561141 PMID:10752524 PMID:14514738 PMID:14993485 PMID:15780079 PMID:21505094 PMID:24033266 PMID:24854265 PMID:25741868 PMID:26809805 PMID:27281700 PMID:28492532 PMID:28844315 More...
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NCBI chr X:81,982,119...82,248,428
Ensembl chr X:81,982,275...82,247,679
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G |
COQ2 |
coenzyme Q2, polyprenyltransferase |
|
ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr32:7,143,476...7,162,765
Ensembl chr32:7,139,126...7,162,764
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G |
COQ8B |
coenzyme Q8B |
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ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis |
ClinVar |
PMID:25741868 PMID:32543055 |
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NCBI chr 1:113,056,369...113,075,773
Ensembl chr 1:113,057,141...113,102,074
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G |
CRB2 |
crumbs cell polarity complex component 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 9:59,427,661...59,450,436
Ensembl chr 9:59,427,569...59,450,434
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G |
CUBN |
cubilin |
|
ISO |
ClinVar Annotator: match by term: Glomerulosclerosis, focal |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 2:19,784,125...20,041,840
Ensembl chr 2:19,784,198...20,041,839
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G |
EDN1 |
endothelin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16191423 |
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NCBI chr35:11,808,892...11,815,383
Ensembl chr35:11,808,892...11,815,383
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G |
EYA1 |
EYA transcriptional coactivator and phosphatase 1 |
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ISO |
ClinVar Annotator: match by term: Glomerulosclerosis, focal |
ClinVar |
PMID:10991693 PMID:24033266 PMID:25741868 PMID:31049720 |
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NCBI chr29:20,176,306...20,595,131
Ensembl chr29:20,177,014...20,525,653
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G |
FN1 |
fibronectin 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16191423 |
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NCBI chr37:22,456,854...22,522,410
Ensembl chr37:22,420,428...22,523,123
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G |
GNAQ |
G protein subunit alpha q |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16267159 |
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NCBI chr 1:80,733,530...80,928,065
Ensembl chr 1:80,715,366...80,928,065
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G |
HAVCR1 |
hepatitis A virus cellular receptor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19225054 |
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NCBI chr 4:53,012,223...53,066,611
Ensembl chr 4:53,046,970...53,128,952 Ensembl chr 4:53,046,970...53,128,952
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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 chr25:35,120,566...35,136,560
Ensembl chr25:35,119,784...35,135,545
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G |
HSPB1 |
heat shock protein family B (small) member 1 |
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ISO |
protein:increased expression:glomerulus, podocyte: |
RGD |
PMID:21931298 |
RGD:10402764 |
NCBI chr 6:7,487,164...7,488,576
Ensembl chr 6:7,487,250...7,488,576
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IL1B |
interleukin 1 beta |
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ISO |
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RGD |
PMID:21412216 |
RGD:7175321 |
NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458
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G |
INF2 |
inverted formin 2 |
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ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal |
ClinVar |
PMID:21866090 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30655312 PMID:32451589 More...
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NCBI chr 8:72,275,209...72,284,991
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ITGB3 |
integrin subunit beta 3 |
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ISO |
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RGD |
PMID:21804539 |
RGD:6907385 |
NCBI chr 9:9,179,667...9,231,061
Ensembl chr 9:9,182,562...9,231,451
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G |
ITGB4 |
integrin subunit beta 4 |
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ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis |
ClinVar |
PMID:25741868 |
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NCBI chr 9:4,825,148...4,855,266
Ensembl chr 9:4,825,292...4,855,820
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G |
KIRREL2 |
kirre like nephrin family adhesion molecule 2 |
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ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal |
ClinVar |
PMID:19406966 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr 1:116,784,756...116,792,138
Ensembl chr 1:116,784,745...116,792,709
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G |
LAMB2 |
laminin subunit beta 2 |
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ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal |
ClinVar |
PMID:20556798 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr20:40,036,967...40,062,628
Ensembl chr20:40,050,157...40,062,523
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G |
LIPC |
lipase C, hepatic type |
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ISO |
protein:reduced expression:serum (rat) |
RGD |
PMID:14531811 |
RGD:2308781 |
NCBI chr30:23,432,460...23,584,037
Ensembl chr30:23,432,493...23,584,037
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G |
LMX1B |
LIM homeobox transcription factor 1 beta |
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ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 9:56,542,844...56,625,609
Ensembl chr 9:56,542,826...56,625,530
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G |
LOC480600 |
chemokine (C-C motif) ligand 3 |
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ISO |
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RGD |
PMID:17684420 |
RGD:7241818 |
NCBI chr 9:37,708,561...37,710,209
Ensembl chr 9:37,676,966...37,710,209
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G |
LPL |
lipoprotein lipase |
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ISO |
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RGD |
PMID:14531811 |
RGD:2308781 |
NCBI chr25:37,078,306...37,102,729
Ensembl chr25:37,079,756...37,102,700
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G |
MED28 |
mediator complex subunit 28 |
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ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis |
ClinVar |
PMID:25741868 |
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NCBI chr 3:62,887,095...62,895,588
Ensembl chr 3:62,890,515...62,895,562
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G |
MIR193A |
microRNA mir-193a |
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ISO |
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MouseDO |
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NCBI chr 9:41,316,481...41,316,536
Ensembl chr 9:41,316,474...41,316,542
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G |
MMP2 |
matrix metallopeptidase 2 |
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ISO |
mRNA, protein:increased expression, increased activity:kidney |
RGD |
PMID:19357873 |
RGD:2325738 |
NCBI chr 2:60,471,092...60,492,991
Ensembl chr 2:60,471,257...60,494,113
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G |
MMP9 |
matrix metallopeptidase 9 |
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ISO |
mRNA, protein:increased expression, increased activity:kidney |
RGD |
PMID:19357873 |
RGD:2325738 |
NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293
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G |
MPV17 |
mitochondrial inner membrane protein MPV17 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18818194 |
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NCBI chr17:21,280,523...21,290,967
Ensembl chr17:21,281,361...21,290,339
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G |
MYH10 |
myosin heavy chain 10 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9678433 |
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NCBI chr 5:33,239,800...33,360,459
Ensembl chr 5:33,241,266...33,360,934
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G |
MYH9 |
myosin heavy chain 9 |
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ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis |
ClinVar |
PMID:19557653 PMID:23144074 PMID:24033266 PMID:25741868 PMID:26346198 PMID:26467025 PMID:26969326 PMID:27068579 PMID:28492532 More...
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NCBI chr10:28,063,626...28,122,953
Ensembl chr10:28,063,624...28,122,953
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G |
MYO1E |
myosin IE |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr30:24,067,622...24,265,567
Ensembl chr30:24,068,283...24,265,311
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G |
MYO9A |
myosin IXA |
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ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal |
ClinVar |
PMID:25741868 PMID:33412162 |
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NCBI chr30:35,386,299...35,606,993
Ensembl chr30:35,389,424...35,606,859
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G |
NLRP3 |
NLR family pyrin domain containing 3 |
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ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis |
ClinVar |
PMID:17509468 PMID:18263599 PMID:18311798 PMID:19319132 PMID:20182451 PMID:21245836 PMID:21621776 PMID:22128899 PMID:22403613 PMID:22524199 PMID:22529966 PMID:22843550 PMID:22935299 PMID:24033266 PMID:24098386 PMID:24158955 PMID:24431285 PMID:24649046 PMID:25586466 PMID:25596455 PMID:25741868 PMID:26020059 PMID:26033552 PMID:26178285 PMID:26273672 PMID:26467025 PMID:26535712 PMID:26848126 PMID:27036377 PMID:27060062 PMID:27819323 PMID:27943647 PMID:28028683 PMID:28137891 PMID:28185410 PMID:28492532 PMID:28692792 PMID:29102545 PMID:29117789 PMID:29148409 PMID:29977033 PMID:30214525 More...
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NCBI chr 8:251,776...313,290
Ensembl chr 8:253,407...313,059
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G |
NOC3L |
NOC3 like DNA replication regulator |
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ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis |
ClinVar |
PMID:25741868 |
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NCBI chr28:8,484,224...8,519,840
Ensembl chr28:8,484,226...8,519,692
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G |
NOS2 |
nitric oxide synthase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16191423 |
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NCBI chr 9:42,171,821...42,210,217
Ensembl chr 9:42,171,821...42,208,588
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G |
NPHP1 |
nephrocystin 1 |
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ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr17:35,076,527...35,136,674
Ensembl chr17:35,076,636...35,136,425
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G |
NPHP3 |
nephrocystin 3 |
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ISO |
ClinVar Annotator: match by term: Glomerulosclerosis, focal |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr23:29,662,486...29,703,629
Ensembl chr23:29,645,641...29,703,805
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G |
NPHP4 |
nephrocystin 4 |
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ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 5:59,819,236...59,936,220
Ensembl chr 5:59,814,274...59,929,386
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G |
NPHS1 |
NPHS1 adhesion molecule, nephrin |
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ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal |
ClinVar |
PMID:9915943 PMID:10652016 PMID:11317351 PMID:11726550 PMID:11854170 PMID:12324903 PMID:12631336 PMID:15086927 PMID:15338398 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 chr 1:116,794,891...116,814,418
Ensembl chr 1:116,794,433...116,813,546
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G |
NPHS2 |
NPHS2 stomatin family member, podocin |
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ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal |
ClinVar |
PMID:1523708 PMID:8589695 PMID:10742096 PMID:11805166 PMID:11805168 PMID:11854170 PMID:12446471 PMID:12464671 PMID:12644922 PMID:12707396 PMID:12776285 PMID:14570703 PMID:14675423 PMID:14701729 PMID:14978175 PMID:15042551 PMID:15253708 PMID:15264208 PMID:15327385 PMID:15496146 PMID:15769810 PMID:15954915 PMID:15968559 PMID:16286890 PMID:16291839 PMID:16481888 PMID:16810518 PMID:16900088 PMID:17109732 PMID:17371932 PMID:17899208 PMID:17942957 PMID:18216321 PMID:18499321 PMID:18683072 PMID:18823551 PMID:19145239 PMID:19268410 PMID:19406966 PMID:19520069 PMID:19812541 PMID:20333530 PMID:20798252 PMID:20947785 PMID:21355056 PMID:21415313 PMID:21636722 PMID:21722858 PMID:22228437 PMID:22578956 PMID:23242530 PMID:23349334 PMID:23515051 PMID:23595123 PMID:23645318 PMID:23800802 PMID:24072147 PMID:24227627 PMID:24509478 PMID:24715228 PMID:24742477 PMID:24969201 PMID:25349199 PMID:25525159 PMID:25599733 PMID:25741868 PMID:26138234 PMID:26211502 PMID:26413278 PMID:26420286 PMID:26467025 PMID:26467726 PMID:27885584 PMID:28492532 PMID:28529802 PMID:28658201 PMID:28712774 PMID:28780565 PMID:29869118 PMID:30241959 PMID:30260545 PMID:30348286 PMID:30655312 PMID:31027891 PMID:31738409 PMID:32129207 PMID:32467597 PMID:32581362 PMID:33193607 PMID:33532864 PMID:34405919 PMID:34853150 More...
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NCBI chr 7:20,347,526...20,375,975
Ensembl chr 7:20,354,134...20,374,020
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G |
NUP93 |
nucleoporin 93 |
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ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis |
ClinVar |
PMID:32581362 |
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NCBI chr 2:59,465,482...59,573,871
Ensembl chr 2:59,465,487...59,574,033
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G |
PAX2 |
paired box 2 |
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ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal |
ClinVar |
PMID:3377002 PMID:8589702 PMID:9106533 PMID:11093271 PMID:11241473 PMID:11461952 PMID:22213154 PMID:22350371 PMID:24429398 PMID:24676634 PMID:25741868 PMID:27226968 PMID:28492532 PMID:31001663 PMID:32203253 PMID:33532864 PMID:34696790 PMID:35444690 More...
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NCBI chr28:13,442,894...13,519,853
Ensembl chr28:13,442,893...13,532,094
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G |
PCNA |
proliferating cell nuclear antigen |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17121042 |
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NCBI chr24:16,478,774...16,485,992
Ensembl chr24:16,478,769...16,484,992
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G |
PDSS2 |
decaprenyl diphosphate synthase subunit 2 |
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ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr12:64,371,548...64,620,652
Ensembl chr12:64,338,950...64,620,367
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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 chr30:32,116,363...32,232,530
Ensembl chr30:32,119,311...32,228,945
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G |
PLCE1 |
phospholipase C epsilon 1 |
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ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal |
ClinVar |
PMID:18975016 PMID:20507940 PMID:25060053 PMID:25741868 PMID:26467025 PMID:28492532 More...
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NCBI chr28:8,209,707...8,484,427
Ensembl chr28:8,210,058...8,481,770
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G |
PMM2 |
phosphomannomutase 2 |
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ISO |
ClinVar Annotator: match by term: Glomerulosclerosis, focal |
ClinVar |
PMID:9140401 PMID:9497260 PMID:9781039 PMID:10386614 PMID:10527672 PMID:10700701 PMID:10854097 PMID:10922383 PMID:11058895 PMID:11134235 PMID:11409861 PMID:11517108 PMID:11530212 PMID:11916319 PMID:12244009 PMID:15844218 PMID:16540464 PMID:17166182 PMID:17451957 PMID:19357119 PMID:20301289 PMID:21228398 PMID:21541725 PMID:22975760 PMID:24424129 PMID:25333069 PMID:25355454 PMID:25741868 PMID:26014514 PMID:26488408 PMID:28373276 PMID:28492532 PMID:28940310 PMID:30061496 PMID:30740725 PMID:31474318 PMID:32581362 PMID:32860008 More...
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NCBI chr 6:33,346,969...33,371,095
Ensembl chr 6:33,347,270...33,371,025
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G |
PPP3CA |
protein phosphatase 3 catalytic subunit alpha |
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ISO |
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RGD |
PMID:26436650 |
RGD:13515117 |
NCBI chr32:22,688,141...22,996,693
Ensembl chr32:22,688,143...22,996,688
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G |
PPP3CB |
protein phosphatase 3 catalytic subunit beta |
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ISO |
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RGD |
PMID:26436650 |
RGD:13515117 |
NCBI chr 4:23,976,023...24,028,139
Ensembl chr 4:23,977,317...24,028,153
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G |
PSAP |
prosaposin |
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ISO |
ClinVar Annotator: match by term: Hyalinosis, Segmental Glomerular |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 PMID:30976395 PMID:35456468 |
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NCBI chr 4:22,571,095...22,603,880
Ensembl chr 4:22,572,153...22,603,848
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G |
RAP1GAP |
RAP1 GTPase activating protein |
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ISO |
mRNA:increased expression:renal glomerulus (human) |
RGD |
PMID:24642466 |
RGD:9835343 |
NCBI chr 2:77,509,592...77,554,620
Ensembl chr 2:77,527,914...77,544,205
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G |
RPGRIP1L |
RPGRIP1 like |
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ISO |
ClinVar Annotator: match by term: Glomerulosclerosis, focal |
ClinVar |
PMID:19430481 PMID:20301500 PMID:25741868 PMID:28492532 |
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NCBI chr 2:62,080,159...62,179,694
Ensembl chr 2:62,080,080...62,178,284
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G |
SCARB2 |
scavenger receptor class B member 2 |
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ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal |
ClinVar |
PMID:25088547 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr32:788,117...865,496
Ensembl chr32:790,379...865,502
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G |
SDCCAG8 |
SHH signaling and ciliogenesis regulator SDCCAG8 |
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ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal |
ClinVar |
PMID:25741868 |
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NCBI chr 7:34,395,977...34,631,479
Ensembl chr 7:34,396,345...34,631,462
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G |
SERPINE1 |
serpin family E member 1 |
treatment |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:18682491 PMID:22303720 |
RGD:13208548 |
NCBI chr 6:8,719,547...8,727,160
Ensembl chr 6:8,720,825...8,726,301
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G |
SHH |
sonic hedgehog signaling molecule |
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ISO |
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RGD |
PMID:24744439 |
RGD:12859042 |
NCBI chr16:18,650,553...18,663,571
Ensembl chr16:18,484,809...18,662,903
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G |
SLC17A5 |
solute carrier family 17 member 5 |
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ISO |
ClinVar Annotator: match by term: Glomerulosclerosis, focal |
ClinVar |
PMID:25741868 PMID:28492532 PMID:29140481 |
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NCBI chr12:35,648,349...35,683,115
Ensembl chr12:35,649,376...35,683,534
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G |
SMARCAL1 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 |
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ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal |
ClinVar |
PMID:11799392 PMID:15880370 PMID:16840568 PMID:17089404 PMID:18805831 PMID:19127206 PMID:20301550 PMID:21914180 PMID:22998683 PMID:24589093 PMID:25741868 PMID:26499378 PMID:28492532 PMID:28796785 PMID:29127259 PMID:30784191 More...
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NCBI chr37:23,364,941...23,425,206
Ensembl chr37:23,367,220...23,419,248
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G |
SPP1 |
secreted phosphoprotein 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9294829 |
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NCBI chr32:11,354,070...11,362,325
Ensembl chr32:11,353,953...11,362,069
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G |
SRGAP1 |
SLIT-ROBO Rho GTPase activating protein 1 |
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ISO |
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MouseDO |
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NCBI chr10:6,677,409...6,947,495
Ensembl chr10:6,677,403...6,944,677
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G |
TMEM63C |
transmembrane protein 63C |
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ISO |
protein:decreased expression:kidney,renal glomerulus (human) |
RGD |
PMID:30900988 |
RGD:15023481 |
NCBI chr 8:50,000,306...50,076,457
Ensembl chr 8:50,020,823...50,074,060
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G |
TNF |
tumor necrosis factor |
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ISO |
protein:increased expression:serum |
RGD |
PMID:21221075 |
RGD:7245511 |
NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
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G |
TNFAIP2 |
TNF alpha induced protein 2 |
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ISO |
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MouseDO |
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NCBI chr 8:70,965,776...70,977,807
Ensembl chr 8:70,967,741...70,976,396
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G |
TNFRSF1A |
TNF receptor superfamily member 1A |
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ISO |
protein:increased expression:serum |
RGD |
PMID:21221075 |
RGD:7245511 |
NCBI chr27:38,641,837...38,654,693
Ensembl chr27:38,638,753...38,700,282
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G |
TNFRSF1B |
TNF receptor superfamily member 1B |
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ISO |
protein:increased expression:serum |
RGD |
PMID:21221075 |
RGD:7245511 |
NCBI chr 2:84,140,179...84,151,219
Ensembl chr 2:84,141,911...84,157,191
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G |
TRPC6 |
transient receptor potential cation channel subfamily C member 6 |
treatment |
ISO |
DNA:SNP:exon:p.P15S (human) ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal |
RGD ClinVar |
PMID:19936226 PMID:21839714 PMID:22980509 PMID:23385000 PMID:25019165 PMID:25741868 PMID:26467025 PMID:28492532 PMID:32581362 More...
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RGD:7247440 RGD:7247444 RGD:7247445 |
NCBI chr 5:29,897,378...30,007,885
Ensembl chr 5:29,897,210...30,007,723
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G |
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 1:91,242,010...91,277,030
Ensembl chr 1:91,241,509...91,272,495
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G |
VWF |
von Willebrand factor |
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ISO |
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RGD |
PMID:22295953 |
RGD:7207031 |
NCBI chr27:38,834,812...38,972,614
Ensembl chr27:38,833,837...39,320,142
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WT1 |
WT1 transcription factor |
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ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis |
ClinVar |
PMID:7795587 PMID:8388765 PMID:9108089 PMID:9531607 PMID:10571943 PMID:11241055 PMID:11738793 PMID:12471221 PMID:15150775 PMID:15483024 PMID:18559874 PMID:18591546 PMID:18618575 PMID:19171881 PMID:19205749 PMID:19221039 PMID:19494353 PMID:19536888 PMID:20368469 PMID:20413658 PMID:20435628 PMID:20595692 PMID:21504297 PMID:21508141 PMID:21851196 PMID:23117548 PMID:23515051 PMID:25110071 PMID:25145932 PMID:25349199 PMID:25383892 PMID:25741868 PMID:25818337 PMID:25932436 PMID:26467025 PMID:26725263 PMID:28492532 PMID:30406062 PMID:33226606 PMID:34386660 PMID:34727091 PMID:38219185 More...
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NCBI chr18:35,099,660...35,148,767
Ensembl chr18:35,103,934...35,148,000
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G |
ZMPSTE24 |
zinc metallopeptidase STE24 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17152860 |
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NCBI chr15:2,669,546...2,708,480
Ensembl chr15:2,670,326...2,709,160
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ACE |
angiotensin I converting enzyme |
treatment |
ISO |
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RGD |
PMID:8505110 |
RGD:12880006 |
NCBI chr 9:11,497,182...11,516,362
Ensembl chr 9:11,497,182...11,516,358
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ACTN4 |
actinin alpha 4 |
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ISO |
ClinVar Annotator: match by term: ACTN4-related condition | ClinVar Annotator: match by term: Focal sclerosis with hyalinosis | ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 1 |
OMIM ClinVar |
PMID:9536098 PMID:10700177 PMID:16251236 PMID:17576681 PMID:18594871 PMID:19142020 PMID:19956976 PMID:21680739 PMID:22351778 PMID:22732337 PMID:23890478 PMID:24130771 PMID:25741868 PMID:26248470 PMID:26301083 PMID:26346198 PMID:26467025 PMID:26740551 PMID:27535533 PMID:28492532 PMID:29869118 PMID:30406062 PMID:31027891 PMID:36090564 More...
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NCBI chr 1:114,354,993...114,427,997
Ensembl chr 1:114,309,693...114,427,991
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ARHGAP24 |
Rho GTPase activating protein 24 |
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ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 1 |
ClinVar |
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NCBI chr32:8,838,567...9,574,712
Ensembl chr32:9,073,260...9,579,472
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AXDND1 |
axonemal dynein light chain domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis |
ClinVar |
PMID:8589695 PMID:10742096 PMID:11805166 PMID:15253708 PMID:15327385 PMID:18823551 PMID:19406966 PMID:20947785 PMID:21355056 PMID:24509478 PMID:24742477 PMID:25741868 PMID:28492532 PMID:30655312 PMID:32581362 More...
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NCBI chr 7:20,375,973...20,480,886
Ensembl chr 7:20,383,249...20,480,823
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C2 |
complement C2 |
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ISO |
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis |
ClinVar |
PMID:2249879 PMID:6308626 PMID:8181962 PMID:16518403 PMID:16936732 PMID:18806293 PMID:21541267 PMID:24033266 PMID:25741868 PMID:28492532 More...
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NCBI chr12:1,363,656...1,399,732
Ensembl chr12:1,363,803...1,399,728
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C3 |
complement C3 |
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ISO |
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 chr20:53,566,226...53,598,365
Ensembl chr20:53,566,261...53,598,761
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G |
CD2AP |
CD2 associated protein |
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ISO |
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis |
ClinVar |
PMID:25741868 |
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NCBI chr12:15,538,215...15,683,619
Ensembl chr12:15,538,356...15,681,011
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CFB |
complement factor B |
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ISO |
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis |
ClinVar |
PMID:2249879 PMID:6308626 PMID:8181962 PMID:16518403 PMID:16936732 PMID:18806293 PMID:21541267 PMID:24033266 PMID:25741868 PMID:28492532 More...
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NCBI chr12:1,400,143...1,406,267
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CFI |
complement factor I |
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ISO |
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis |
ClinVar |
PMID:18825487 PMID:25741868 PMID:28492532 |
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NCBI chr32:29,936,447...29,986,755
Ensembl chr32:29,936,393...29,985,724
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COL4A4 |
collagen type IV alpha 4 chain |
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ISO |
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis |
ClinVar |
PMID:19129241 PMID:21196518 PMID:24052634 PMID:24522496 PMID:24854265 PMID:25307543 PMID:25741868 PMID:26809805 PMID:27281700 PMID:28492532 PMID:31049720 PMID:31922066 More...
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NCBI chr25:39,849,680...39,976,035
Ensembl chr25:39,854,388...39,976,189
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CUBN |
cubilin |
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ISO |
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 2:19,784,125...20,041,840
Ensembl chr 2:19,784,198...20,041,839
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EYA1 |
EYA transcriptional coactivator and phosphatase 1 |
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ISO |
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis |
ClinVar |
PMID:10991693 PMID:24033266 PMID:25741868 PMID:31049720 |
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NCBI chr29:20,176,306...20,595,131
Ensembl chr29:20,177,014...20,525,653
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G |
INF2 |
inverted formin 2 |
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ISO |
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 8:72,275,209...72,284,991
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KIRREL2 |
kirre like nephrin family adhesion molecule 2 |
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ISO |
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 1:116,784,756...116,792,138
Ensembl chr 1:116,784,745...116,792,709
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G |
LAMB2 |
laminin subunit beta 2 |
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ISO |
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis |
ClinVar |
PMID:20556798 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr20:40,036,967...40,062,628
Ensembl chr20:40,050,157...40,062,523
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G |
MYH9 |
myosin heavy chain 9 |
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ISO |
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis |
ClinVar |
PMID:19557653 PMID:23144074 PMID:24033266 PMID:25741868 PMID:26346198 PMID:26467025 PMID:26969326 PMID:27068579 PMID:28492532 More...
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NCBI chr10:28,063,626...28,122,953
Ensembl chr10:28,063,624...28,122,953
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G |
MYO9A |
myosin IXA |
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ISO |
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis |
ClinVar |
PMID:25741868 PMID:33412162 |
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NCBI chr30:35,386,299...35,606,993
Ensembl chr30:35,389,424...35,606,859
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G |
NLRP3 |
NLR family pyrin domain containing 3 |
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ISO |
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis |
ClinVar |
PMID:17509468 PMID:18263599 PMID:18311798 PMID:19319132 PMID:20182451 PMID:21245836 PMID:21621776 PMID:22128899 PMID:22403613 PMID:22524199 PMID:22529966 PMID:22843550 PMID:22935299 PMID:24033266 PMID:24098386 PMID:24158955 PMID:24431285 PMID:24649046 PMID:25586466 PMID:25596455 PMID:25741868 PMID:26020059 PMID:26033552 PMID:26178285 PMID:26273672 PMID:26467025 PMID:26535712 PMID:26848126 PMID:27036377 PMID:27060062 PMID:27819323 PMID:27943647 PMID:28028683 PMID:28137891 PMID:28185410 PMID:28492532 PMID:28692792 PMID:29102545 PMID:29117789 PMID:29148409 PMID:29977033 PMID:30214525 More...
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NCBI chr 8:251,776...313,290
Ensembl chr 8:253,407...313,059
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G |
NPHP3 |
nephrocystin 3 |
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ISO |
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr23:29,662,486...29,703,629
Ensembl chr23:29,645,641...29,703,805
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G |
NPHS1 |
NPHS1 adhesion molecule, nephrin |
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ISO |
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 chr 1:116,794,891...116,814,418
Ensembl chr 1:116,794,433...116,813,546
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G |
NPHS2 |
NPHS2 stomatin family member, podocin |
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ISO |
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis |
ClinVar |
PMID:8589695 PMID:10742096 PMID:11805166 PMID:11854170 PMID:12446471 PMID:12464671 PMID:12707396 PMID:12776285 PMID:14978175 PMID:15042551 PMID:15253708 PMID:15327385 PMID:15496146 PMID:15769810 PMID:15954915 PMID:15968559 PMID:16286890 PMID:16481888 PMID:16810518 PMID:16900088 PMID:17371932 PMID:17899208 PMID:17942957 PMID:18216321 PMID:18499321 PMID:18683072 PMID:18823551 PMID:19145239 PMID:19268410 PMID:19406966 PMID:19520069 PMID:19812541 PMID:20333530 PMID:20798252 PMID:20947785 PMID:21355056 PMID:21415313 PMID:21722858 PMID:22228437 PMID:22578956 PMID:23242530 PMID:23349334 PMID:23515051 PMID:23595123 PMID:23645318 PMID:23800802 PMID:24227627 PMID:24509478 PMID:24715228 PMID:24742477 PMID:24969201 PMID:25599733 PMID:25741868 PMID:26138234 PMID:26211502 PMID:26413278 PMID:26420286 PMID:26467025 PMID:27885584 PMID:28492532 PMID:28529802 PMID:28712774 PMID:28780565 PMID:29869118 PMID:30241959 PMID:30260545 PMID:30348286 PMID:30655312 PMID:31027891 PMID:31738409 PMID:32129207 PMID:32467597 PMID:32581362 PMID:33193607 PMID:33532864 PMID:34405919 PMID:34853150 More...
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NCBI chr 7:20,347,526...20,375,975
Ensembl chr 7:20,354,134...20,374,020
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G |
NUP107 |
nucleoporin 107 |
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ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 1 |
ClinVar |
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NCBI chr10:10,838,881...10,887,347
Ensembl chr10:10,838,944...10,887,197
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G |
PAX2 |
paired box 2 |
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ISO |
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis |
ClinVar |
PMID:3377002 PMID:8589702 PMID:9106533 PMID:11093271 PMID:11241473 PMID:11461952 PMID:22213154 PMID:22350371 PMID:24429398 PMID:24676634 PMID:25741868 PMID:27226968 PMID:28492532 PMID:31001663 PMID:32203253 PMID:33532864 PMID:34696790 PMID:35444690 More...
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NCBI chr28:13,442,894...13,519,853
Ensembl chr28:13,442,893...13,532,094
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G |
PLCE1 |
phospholipase C epsilon 1 |
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ISO |
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr28:8,209,707...8,484,427
Ensembl chr28:8,210,058...8,481,770
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G |
PMM2 |
phosphomannomutase 2 |
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ISO |
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis |
ClinVar |
PMID:9140401 PMID:9497260 PMID:9781039 PMID:10386614 PMID:10527672 PMID:10700701 PMID:10854097 PMID:10922383 PMID:11058895 PMID:11134235 PMID:11409861 PMID:11517108 PMID:11530212 PMID:11916319 PMID:12244009 PMID:15844218 PMID:16540464 PMID:17166182 PMID:17451957 PMID:19357119 PMID:20301289 PMID:21228398 PMID:21541725 PMID:22975760 PMID:24424129 PMID:25333069 PMID:25355454 PMID:25741868 PMID:26014514 PMID:26488408 PMID:28373276 PMID:28492532 PMID:28940310 PMID:30061496 PMID:30740725 PMID:31474318 PMID:32581362 PMID:32860008 More...
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NCBI chr 6:33,346,969...33,371,095
Ensembl chr 6:33,347,270...33,371,025
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G |
RPGRIP1L |
RPGRIP1 like |
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ISO |
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis |
ClinVar |
PMID:19430481 PMID:20301500 PMID:25741868 PMID:28492532 |
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NCBI chr 2:62,080,159...62,179,694
Ensembl chr 2:62,080,080...62,178,284
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G |
SCARB2 |
scavenger receptor class B member 2 |
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ISO |
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr32:788,117...865,496
Ensembl chr32:790,379...865,502
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G |
SDCCAG8 |
SHH signaling and ciliogenesis regulator SDCCAG8 |
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ISO |
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis |
ClinVar |
PMID:25741868 |
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NCBI chr 7:34,395,977...34,631,479
Ensembl chr 7:34,396,345...34,631,462
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G |
SLC17A5 |
solute carrier family 17 member 5 |
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ISO |
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis |
ClinVar |
PMID:25741868 PMID:28492532 PMID:29140481 |
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NCBI chr12:35,648,349...35,683,115
Ensembl chr12:35,649,376...35,683,534
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G |
SMARCAL1 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 |
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ISO |
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis |
ClinVar |
PMID:11799392 PMID:15880370 PMID:16840568 PMID:17089404 PMID:18805831 PMID:19127206 PMID:20301550 PMID:21914180 PMID:22998683 PMID:24589093 PMID:25741868 PMID:26499378 PMID:28492532 PMID:28796785 PMID:29127259 PMID:30784191 More...
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NCBI chr37:23,364,941...23,425,206
Ensembl chr37:23,367,220...23,419,248
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G |
TRPC6 |
transient receptor potential cation channel subfamily C member 6 |
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ISO |
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 5:29,897,378...30,007,885
Ensembl chr 5:29,897,210...30,007,723
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G |
TRPC6 |
transient receptor potential cation channel subfamily C member 6 |
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ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 2 | ClinVar Annotator: match by term: TRPC6-related condition |
OMIM ClinVar |
PMID:2298509 PMID:10200986 PMID:15879175 PMID:15924139 PMID:16932363 PMID:19129465 PMID:19380626 PMID:19936226 PMID:21734084 PMID:22732337 PMID:22980509 PMID:23171048 PMID:23291369 PMID:23645677 PMID:23663351 PMID:25019165 PMID:25741868 PMID:26127002 PMID:26147534 PMID:26467025 PMID:26892346 PMID:27573339 PMID:28117080 PMID:28204945 PMID:28492532 PMID:28780565 PMID:28921387 PMID:29127259 PMID:29700422 PMID:30295827 PMID:30586318 PMID:30655312 PMID:31266804 PMID:31266820 PMID:31576025 PMID:31936014 PMID:31937884 PMID:32509715 PMID:33532864 PMID:33884742 PMID:35051376 PMID:35064937 PMID:35749414 PMID:35913909 More...
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NCBI chr 5:29,897,378...30,007,885
Ensembl chr 5:29,897,210...30,007,723
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G |
CD2AP |
CD2 associated protein |
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ISO |
ClinVar Annotator: match by term: CD2AP-related condition | ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 3, susceptibility to |
OMIM ClinVar |
PMID:10514378 PMID:12764198 PMID:17713465 PMID:18443213 PMID:19131354 PMID:22971997 PMID:24033266 PMID:25741868 PMID:26346198 PMID:28492532 PMID:30406062 PMID:30612599 PMID:31027891 PMID:33712733 PMID:34408996 PMID:36134775 More...
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NCBI chr12:15,538,215...15,683,619
Ensembl chr12:15,538,356...15,681,011
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ADSS1 |
adenylosuccinate synthase 1 |
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ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:72,288,246...72,305,479
Ensembl chr 8:72,288,323...72,305,479
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G |
AHNAK2 |
AHNAK nucleoprotein 2 |
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ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:72,423,322...72,446,388
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G |
AKT1 |
AKT serine/threonine kinase 1 |
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ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:72,317,399...72,335,686
Ensembl chr 8:72,317,869...72,335,193
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G |
BRF1 |
BRF1 RNA polymerase III transcription initiation factor subunit |
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ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:72,588,578...72,632,259
Ensembl chr 8:72,588,693...72,632,263
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G |
BTBD6 |
BTB domain containing 6 |
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ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:72,605,715...72,607,189
Ensembl chr 8:72,605,516...72,607,023
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G |
CDCA4 |
cell division cycle associated 4 |
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ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:72,457,671...72,465,630
Ensembl chr 8:72,458,160...72,465,767
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G |
CEP170B |
centrosomal protein 170B |
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ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:72,374,536...72,399,714
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G |
CLBA1 |
clathrin binding box of aftiphilin containing 1 |
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ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:72,448,580...72,454,685
Ensembl chr 8:72,443,323...72,454,191
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G |
GPR132 |
G protein-coupled receptor 132 |
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ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:72,478,585...72,493,165
Ensembl chr 8:72,479,905...72,493,609
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G |
INF2 |
inverted formin 2 |
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ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 | ClinVar Annotator: match by term: INF2-related condition |
OMIM ClinVar |
PMID:6054293 PMID:9536098 PMID:16199547 PMID:17576681 PMID:20023659 PMID:20803156 PMID:21258034 PMID:21415313 PMID:21866090 PMID:22187985 PMID:22961558 PMID:23014460 PMID:23349334 PMID:23515051 PMID:23521651 PMID:24174593 PMID:24750328 PMID:25165188 PMID:25407002 PMID:25676889 PMID:25741868 PMID:25741869 PMID:25943269 PMID:26086034 PMID:26248470 PMID:26467025 PMID:26467726 PMID:26764407 PMID:27350175 PMID:27549087 PMID:28492532 PMID:28658201 PMID:28780565 PMID:29653220 PMID:29869118 PMID:30126379 PMID:30373780 PMID:30406062 PMID:30586318 PMID:30680856 PMID:30773290 PMID:30962575 PMID:31328266 PMID:31515790 PMID:31924668 PMID:31937884 PMID:32444357 PMID:32451589 PMID:32604935 PMID:32901917 PMID:33443052 PMID:33712733 PMID:34120753 PMID:36413997 PMID:36506246 PMID:36637069 PMID:37772439 More...
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NCBI chr 8:72,275,209...72,284,991
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G |
JAG2 |
jagged canonical Notch ligand 2 |
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ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:72,535,539...72,553,531
Ensembl chr 8:72,535,107...72,550,322
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G |
NUDT14 |
nudix hydrolase 14 |
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ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:72,562,314...72,568,542
Ensembl chr 8:72,562,314...72,567,057
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G |
PACS2 |
phosphofurin acidic cluster sorting protein 2 |
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ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:72,672,861...72,721,655
Ensembl chr 8:72,673,472...72,721,215
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G |
PLD4 |
phospholipase D family member 4 |
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ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:72,410,076...72,417,681
Ensembl chr 8:72,416,637...72,417,384
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G |
SIVA1 |
SIVA1 apoptosis inducing factor |
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ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:72,309,400...72,313,726
Ensembl chr 8:72,309,447...72,313,640
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G |
ZBTB42 |
zinc finger and BTB domain containing 42 |
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ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:72,339,038...72,346,109
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G |
LDHAL6B |
lactate dehydrogenase A like 6B |
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ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 6 |
ClinVar |
PMID:25741868 |
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NCBI chr 1:46,878,452...46,880,160
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G |
MYO1E |
myosin IE |
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ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 6 | ClinVar Annotator: match by term: MYO1E-related condition |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:21756023 PMID:25741868 PMID:28492532 PMID:33532864 More...
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NCBI chr30:24,067,622...24,265,567
Ensembl chr30:24,068,283...24,265,311
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G |
PAX2 |
paired box 2 |
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ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 7 |
OMIM ClinVar |
PMID:3077329 PMID:3377002 PMID:8589702 PMID:9106533 PMID:10466411 PMID:10533062 PMID:11093271 PMID:11241473 PMID:11461952 PMID:16199547 PMID:20301624 PMID:21108633 PMID:21654726 PMID:22213154 PMID:22350371 PMID:23539225 PMID:24429398 PMID:24676634 PMID:25741868 PMID:27226968 PMID:27657687 PMID:28041643 PMID:28492532 PMID:28566479 PMID:29973660 PMID:30076350 PMID:30241513 PMID:30773290 PMID:31001663 PMID:31027891 PMID:31060108 PMID:31576025 PMID:31692565 PMID:32203253 PMID:32604935 PMID:32776440 PMID:33532864 PMID:33997468 PMID:34696790 PMID:35444690 PMID:35574290 PMID:36549658 More...
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NCBI chr28:13,442,894...13,519,853
Ensembl chr28:13,442,893...13,532,094
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G |
ANLN |
anillin, actin binding protein |
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ISO |
ClinVar Annotator: match by term: ANLN-related condition | ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 8 |
OMIM ClinVar |
PMID:24676636 PMID:25741868 PMID:28106320 PMID:28492532 PMID:29869118 |
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NCBI chr14:47,805,113...47,854,749
Ensembl chr14:47,804,845...47,853,633
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G |
SYNPO |
synaptopodin |
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ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 8 |
ClinVar |
PMID:25741868 PMID:33615071 |
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NCBI chr 4:58,501,361...58,549,340
Ensembl chr 4:58,497,734...58,550,438
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G |
CRB2 |
crumbs cell polarity complex component 2 |
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ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 9 |
OMIM ClinVar |
PMID:25557779 PMID:25741868 PMID:26795916 PMID:27004616 PMID:27942854 PMID:28492532 PMID:30212996 PMID:32581362 PMID:33532864 More...
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NCBI chr 9:59,427,661...59,450,436
Ensembl chr 9:59,427,569...59,450,434
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G |
TRIM8 |
tripartite motif containing 8 |
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ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis and neurodevelopmental syndrome | ClinVar Annotator: match by term: TRIM8-related condition |
OMIM ClinVar |
PMID:25741868 PMID:27346735 PMID:28492532 PMID:29758562 PMID:30244534 PMID:32193649 PMID:32531461 PMID:33508234 PMID:34930159 More...
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NCBI chr28:15,124,310...15,138,660
Ensembl chr28:15,123,348...15,146,355
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G |
CFH |
complement factor H |
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ISO |
DNA:SNPs,Haplotype:: |
RGD |
PMID:17517971 |
RGD:7364995 |
NCBI chr38:2,878,677...2,956,226
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G |
ATIC |
5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase |
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ISO |
ClinVar Annotator: match by term: Glomerulopathy with fibronectin deposits 2 |
ClinVar |
PMID:25741868 PMID:28492532 PMID:29100092 PMID:32200603 |
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NCBI chr37:22,420,645...22,446,769
Ensembl chr37:22,420,603...22,446,697
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G |
FN1 |
fibronectin 1 |
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ISO |
ClinVar Annotator: match by term: Glomerulopathy with fibronectin deposits 2 |
OMIM ClinVar |
PMID:1544672 PMID:7564073 PMID:7747733 PMID:9536098 PMID:12042895 PMID:17576681 PMID:18268355 PMID:25741868 PMID:28492532 PMID:29100092 PMID:30599297 PMID:32200603 PMID:36774238 More...
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NCBI chr37:22,456,854...22,522,410
Ensembl chr37:22,420,428...22,523,123
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G |
INF2 |
inverted formin 2 |
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ISO |
ClinVar Annotator: match by term: Glomerulopathy with fibronectin deposits 2 |
ClinVar |
PMID:25741868 |
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NCBI chr 8:72,275,209...72,284,991
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G |
ACE |
angiotensin I converting enzyme |
treatment |
ISO |
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RGD |
PMID:21718676 |
RGD:12879389 |
NCBI chr 9:11,497,182...11,516,362
Ensembl chr 9:11,497,182...11,516,358
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G |
AGER |
advanced glycosylation end-product specific receptor |
treatment |
ISO |
associated with Diabetic Nephropathies |
RGD |
PMID:20554645 PMID:23046363 |
RGD:7243247 RGD:7244139 |
NCBI chr12:1,574,251...1,577,410
Ensembl chr12:1,574,251...1,577,129
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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 chr23:43,569,658...43,617,113
Ensembl chr23:43,614,035...43,616,238
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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:12495295 PMID:20042458 PMID:20631980 |
RGD:6903284 RGD:6903859 RGD:6903882 |
NCBI chr X:88,703,551...88,708,451
Ensembl chr X:88,705,765...88,706,853
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G |
APOE |
apolipoprotein E |
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ISO |
protein:increased expression:renal glomerulus (rat) |
RGD |
PMID:21907828 PMID:22207560 |
RGD:6903199 RGD:6903285 |
NCBI chr 1:110,525,717...110,528,534
Ensembl chr 1:110,525,722...110,528,440
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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 chr36:30,488,250...30,526,367
Ensembl chr36:30,488,488...30,536,765
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G |
ESR2 |
estrogen receptor 2 |
susceptibility |
ISO |
protein:decreased expression:renal glomerulus (mouse) |
RGD |
PMID:12000739 |
RGD:7364801 |
NCBI chr 8:38,645,917...38,715,347
Ensembl chr 8:38,645,430...38,702,691
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G |
FBN1 |
fibrillin 1 |
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ISO |
associated with Hypertension |
RGD |
PMID:16380460 |
RGD:7365080 |
NCBI chr30:14,640,973...14,864,151
Ensembl chr30:14,640,973...14,864,151
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G |
HBEGF |
heparin binding EGF like growth factor |
induced |
ISO |
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RGD |
PMID:16107576 |
RGD:1556472 |
NCBI chr 2:35,551,248...35,563,310
Ensembl chr 2:35,551,250...35,563,043
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G |
IL1B |
interleukin 1 beta |
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ISO |
associated with Hypertension |
RGD |
PMID:19948880 |
RGD:7175503 |
NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458
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G |
MMP1 |
matrix metallopeptidase 1 |
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ISO |
protein:decreased expression:kidney (rat) associated with Hyperhomocysteinemia |
RGD |
PMID:20406136 PMID:21275176 |
RGD:7207203 RGD:7207363 |
NCBI chr 5:28,978,385...28,986,644
Ensembl chr 5:28,978,473...28,986,648
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G |
MMP9 |
matrix metallopeptidase 9 |
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ISO |
associated with Obesity;mRNA:decreased expression:glomerulus associated with Hyperhomocysteinemia |
RGD |
PMID:9300240 PMID:20406136 |
RGD:7207203 RGD:8547929 |
NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293
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G |
PAX2 |
paired box 2 |
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ISO |
ClinVar Annotator: match by term: Glomerulosclerosis |
ClinVar |
PMID:3377002 PMID:8589702 PMID:9106533 PMID:11093271 PMID:11241473 PMID:11461952 PMID:22213154 PMID:22350371 PMID:24429398 PMID:24676634 PMID:25741868 PMID:27226968 PMID:28492532 PMID:31001663 PMID:32203253 PMID:33532864 PMID:34696790 PMID:35444690 More...
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NCBI chr28:13,442,894...13,519,853
Ensembl chr28:13,442,893...13,532,094
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G |
PLA2G7 |
phospholipase A2 group VII |
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ISO |
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RGD |
PMID:16213192 |
RGD:7248790 |
NCBI chr12:14,866,229...14,908,230
Ensembl chr12:14,866,229...14,908,114
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G |
PLEKHA7 |
pleckstrin homology domain containing A7 |
ameliorates |
ISO |
compared to wild type |
RGD |
PMID:25136115 |
RGD:11079199 |
NCBI chr21:39,426,313...39,564,683
Ensembl chr21:39,427,401...39,645,585
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G |
PPARG |
peroxisome proliferator activated receptor gamma |
treatment |
ISO |
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RGD |
PMID:11318962 |
RGD:8553043 |
NCBI chr20:6,134,618...6,265,481
Ensembl chr20:6,050,357...6,207,981
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G |
RGS2 |
regulator of G protein signaling 2 |
susceptibility |
ISO |
associated with Hypertension |
RGD |
PMID:26606876 |
RGD:13524570 |
NCBI chr38:6,200,237...6,203,491
Ensembl chr38:6,200,657...6,203,494
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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 chr26:38,137,662...38,413,666
Ensembl chr26:38,083,371...38,414,033
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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 6:8,719,547...8,727,160
Ensembl chr 6:8,720,825...8,726,301
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G |
SHC1 |
SHC adaptor protein 1 |
ameliorates |
ISO |
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RGD |
PMID:27270176 |
RGD:12792230 |
NCBI chr 7:42,501,829...42,509,613
Ensembl chr 7:42,500,185...42,508,276
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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 chr15:463,307...493,145
Ensembl chr15:463,237...493,140
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G |
SPP1 |
secreted phosphoprotein 1 |
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ISO |
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RGD |
PMID:12675855 |
RGD:6903837 |
NCBI chr32:11,354,070...11,362,325
Ensembl chr32:11,353,953...11,362,069
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G |
SYNPO |
synaptopodin |
treatment |
ISO |
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RGD |
PMID:22125642 |
RGD:40902998 |
NCBI chr 4:58,501,361...58,549,340
Ensembl chr 4:58,497,734...58,550,438
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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 2:84,140,179...84,151,219
Ensembl chr 2:84,141,911...84,157,191
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G |
SOX18 |
SRY-box transcription factor 18 |
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ISO |
ClinVar Annotator: match by term: Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome |
OMIM ClinVar |
PMID:2484451 PMID:12740761 PMID:24697860 PMID:25741868 PMID:28492532 PMID:29307792 More...
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NCBI chr24:47,494,581...47,496,563
Ensembl chr24:47,494,902...47,496,970
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G |
ACE |
angiotensin I converting enzyme |
disease_progression |
ISO |
DNA:polymorphism:intron: ClinVar Annotator: match by term: Susceptibility to progression to renal failure in IgA nephropathy |
RGD ClinVar |
PMID:1313972 PMID:1319114 PMID:1328889 PMID:1386652 PMID:1976655 PMID:2847529 PMID:2849100 PMID:7593601 PMID:7729604 PMID:7783416 PMID:7854377 PMID:7909524 PMID:8131299 PMID:8131300 PMID:8136829 PMID:8170965 PMID:8208911 PMID:8298638 PMID:8314010 PMID:8541160 PMID:8644984 PMID:8675669 PMID:9120002 PMID:9236417 PMID:9259580 PMID:9699903 PMID:9737775 PMID:9916793 PMID:10099885 PMID:10636736 PMID:10643899 PMID:10841123 PMID:11687636 PMID:11956052 PMID:12220450 PMID:12666117 PMID:14657821 PMID:14872014 PMID:15110771 PMID:15277638 PMID:15381116 PMID:15531537 PMID:15534175 PMID:15635071 PMID:19221299 More...
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RGD:7257515 |
NCBI chr 9:11,497,182...11,516,362
Ensembl chr 9:11,497,182...11,516,358
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G |
ACSM3 |
acyl-CoA synthetase medium chain family member 3 |
disease_progression |
ISO |
DNA:polymorphism: : |
RGD |
PMID:12484505 |
RGD:7241283 |
NCBI chr 6:24,558,010...24,594,326
Ensembl chr 6:24,558,142...24,582,728
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G |
ADAM10 |
ADAM metallopeptidase domain 10 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:32715474 |
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NCBI chr30:23,605,724...23,732,038
Ensembl chr30:23,606,517...23,731,823
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G |
ADD1 |
adducin 1 |
disease_progression |
ISO |
DNA:polymorphism:cds:rs4961(human) |
RGD |
PMID:19838659 |
RGD:7174725 |
NCBI chr 3:61,356,643...61,443,851
Ensembl chr 3:61,358,162...61,474,830
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G |
ADD2 |
adducin 2 |
disease_progression |
ISO |
DNA:polymorphism:cds: rs4984(human) |
RGD |
PMID:19838659 |
RGD:7174725 |
NCBI chr10:69,056,367...69,098,775
Ensembl chr10:69,057,267...69,098,521
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G |
AGT |
angiotensinogen |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9259580 |
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NCBI chr 4:8,681,192...8,694,059
Ensembl chr 4:8,683,798...8,693,880
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G |
AGTR1 |
angiotensin II receptor type 1 |
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ISO |
protein:increased expression:kidney tubule |
RGD |
PMID:15930094 |
RGD:6903851 |
NCBI chr23:43,569,658...43,617,113
Ensembl chr23:43,614,035...43,616,238
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G |
AGTR2 |
angiotensin II receptor type 2 |
disease_progression |
ISO |
DNA:polymorphism: :1818A>T (human) protein:increased expression:kidney tubule |
RGD |
PMID:15930094 PMID:19194560 |
RGD:6903844 RGD:6903851 |
NCBI chr X:88,703,551...88,708,451
Ensembl chr X:88,705,765...88,706,853
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G |
AURKB |
aurora kinase B |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25133636 |
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NCBI chr 5:33,014,098...33,028,951
Ensembl chr 5:33,014,102...33,033,948
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G |
B4GALT1 |
beta-1,4-galactosyltransferase 1 |
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ISO |
OMIM:161950 | OMIM:616818 |
MouseDO |
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NCBI chr11:50,223,880...50,276,745
Ensembl chr11:50,226,242...50,276,730
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G |
B9D2 |
B9 domain containing 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11728950 |
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NCBI chr 1:112,621,832...112,627,726
Ensembl chr 1:112,621,633...112,643,885
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G |
C1QA |
complement C1q A chain |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8840296 PMID:25133636 |
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NCBI chr 2:76,668,086...76,671,082
Ensembl chr 2:76,668,217...76,670,977
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G |
C1QB |
complement C1q B chain |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25133636 |
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NCBI chr 2:76,650,440...76,655,546
Ensembl chr 2:76,650,586...76,655,549
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G |
C2 |
complement C2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25133636 |
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NCBI chr12:1,363,656...1,399,732
Ensembl chr12:1,363,803...1,399,728
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G |
C3 |
complement C3 |
|
ISO |
mRNA,protein:increased expression, increased activity:kidney |
RGD |
PMID:11287758 |
RGD:7175543 |
NCBI chr20:53,566,226...53,598,365
Ensembl chr20:53,566,261...53,598,761
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G |
CARD9 |
caspase recruitment domain family member 9 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25305756 |
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NCBI chr 9:49,110,913...49,120,758
Ensembl chr 9:49,113,923...49,120,591
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G |
CCL2 |
C-C motif chemokine ligand 2 |
|
ISO |
protein:increased expression:kidney |
RGD |
PMID:18433541 |
RGD:2307041 |
NCBI chr 9:39,008,187...39,009,932
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G |
CCL20 |
C-C motif chemokine ligand 20 |
disease_progression |
ISO |
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RGD |
PMID:23192593 |
RGD:7483632 |
NCBI chr25:40,506,385...40,509,903
Ensembl chr25:40,506,753...40,509,709
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G |
CCR6 |
C-C motif chemokine receptor 6 |
disease_progression |
ISO |
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RGD |
PMID:23192593 |
RGD:7483632 |
NCBI chr 1:54,932,798...54,960,646
Ensembl chr 1:54,932,690...54,959,740
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G |
CD14 |
CD14 molecule |
disease_progression |
ISO |
DNA:polymorphism:promoter:c. -159C>T (human) |
RGD |
PMID:12566518 |
RGD:7204499 |
NCBI chr 2:35,790,505...35,792,967
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G |
CD163 |
CD163 molecule |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25133636 |
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NCBI chr27:37,669,757...37,700,746
Ensembl chr27:37,669,827...37,753,106
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G |
CD44 |
CD44 molecule |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25133636 |
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NCBI chr18:32,735,493...32,826,483
Ensembl chr18:32,737,907...32,827,107
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G |
CFB |
complement factor B |
disease_progression |
ISO |
mRNA:increased expression:kidney protein:increased expression:serum |
RGD |
PMID:3118258 PMID:8567024 PMID:17385664 |
RGD:7242737 RGD:7242754 RGD:7242759 |
NCBI chr12:1,400,143...1,406,267
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G |
CHGA |
chromogranin A |
|
ISO |
associated with Hypertension;DNA:polymorphism:promoter:-415T>C (human) |
RGD |
PMID:20113265 |
RGD:6906902 |
NCBI chr 8:1,970,966...1,973,511
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G |
CORO1C |
coronin 1C |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25133636 |
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NCBI chr26:18,161,707...18,236,654
Ensembl chr26:18,176,441...18,236,652
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G |
CXCR2 |
C-X-C motif chemokine receptor 2 |
|
ISO |
DNA:SNPs: :rs4674257, rs4674259 (human) |
RGD |
PMID:21214373 |
RGD:7257677 |
NCBI chr37:24,831,351...24,846,387
Ensembl chr37:24,843,171...24,844,247
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G |
DLA-DQB1 |
major histocompatibility complex, class II, DQ beta 1 |
disease_progression |
ISO |
DNA:polymorphism: :HLA-DQB1*0301(human) CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:7638860 PMID:25305756 |
RGD:36174018 |
NCBI chr12:2,305,307...2,307,711
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G |
FABP1 |
fatty acid binding protein 1 |
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ISO |
protein:increased expression:urine (human) |
RGD |
PMID:16118482 |
RGD:1578453 |
NCBI chr17:38,242,119...38,247,969
Ensembl chr17:38,242,119...38,247,962
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G |
FAS |
Fas cell surface death receptor |
treatment |
ISO |
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RGD |
PMID:29844269 |
RGD:13792576 |
NCBI chr26:38,738,811...38,763,298
Ensembl chr26:38,737,611...38,763,321
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G |
FCAR |
Fc fragment of IgA receptor |
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ISO |
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RGD |
PMID:21985370 PMID:22451718 |
RGD:7242063 RGD:7242167 |
NCBI chr 1:102,709,675...102,720,680
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G |
FN1 |
fibronectin 1 |
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ISO |
protein:increased expression:kidney |
RGD |
PMID:15925904 |
RGD:7206844 |
NCBI chr37:22,456,854...22,522,410
Ensembl chr37:22,420,428...22,523,123
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G |
FOXM1 |
forkhead box M1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25133636 |
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NCBI chr27:41,894,605...41,905,656
Ensembl chr27:41,894,672...41,905,663
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G |
GPR183 |
G protein-coupled receptor 183 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25133636 |
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NCBI chr22:49,332,665...49,347,721
Ensembl chr22:49,333,188...49,347,593
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G |
HAVCR1 |
hepatitis A virus cellular receptor 1 |
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ISO |
protein:increased expression:urine: |
RGD |
PMID:21467131 PMID:23135864 |
RGD:7245479 RGD:7245983 |
NCBI chr 4:53,012,223...53,066,611
Ensembl chr 4:53,046,970...53,128,952 Ensembl chr 4:53,046,970...53,128,952
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G |
HPSE |
heparanase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25133636 |
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NCBI chr32:7,166,437...7,199,659
Ensembl chr32:7,167,856...7,199,665
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G |
IGF1R |
insulin like growth factor 1 receptor |
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ISO |
DNA: snp::rs2229765 |
RGD |
PMID:21047277 |
RGD:7242795 |
NCBI chr 3:41,795,337...42,096,255
Ensembl chr 3:41,794,623...42,090,387
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G |
IL18 |
interleukin 18 |
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ISO |
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RGD |
PMID:22518072 |
RGD:6893446 |
NCBI chr 5:20,972,742...20,995,327
Ensembl chr 5:20,972,871...20,995,348
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G |
IL1A |
interleukin 1 alpha |
no_association |
ISO |
DNA:SNP:promoter |
RGD |
PMID:21049406 |
RGD:6907116 |
NCBI chr17:36,969,581...36,979,445
Ensembl chr17:36,970,573...36,979,435
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G |
IL1B |
interleukin 1 beta |
no_association |
ISO |
DNA:SNPs: :rs1143627, rs3917356, rs1143633 (human) |
RGD |
PMID:19280228 PMID:21049406 |
RGD:6907082 RGD:6907116 |
NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458
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G |
IL1RN |
interleukin 1 receptor antagonist |
susceptibility |
ISO |
mouse model treated with human protein rat model treated with human protein DNA:polymorphisms:intron, 3' utr:IVS1+1890G>T, IVS1+8796A>G, *138C>G (rs928940, rs439154, rs315951) (human) DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human) protein:decreased expression:serum, urine (human) response to immunoglobulin therapy |
RGD |
PMID:9370186 PMID:9844059 PMID:10079261 PMID:10566895 PMID:10916103 PMID:16209246 PMID:19280228 More...
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RGD:6906961 RGD:6907082 RGD:6907414 RGD:6907427 RGD:6909131 RGD:6909132 RGD:6909150 |
NCBI chr17:37,236,690...37,250,424
Ensembl chr17:37,212,751...37,249,329
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G |
KIF15 |
kinesin family member 15 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25133636 |
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NCBI chr20:43,454,025...43,532,361
Ensembl chr20:43,359,206...43,532,219
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G |
LAIR1 |
leukocyte associated immunoglobulin like receptor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25133636 |
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NCBI chr 1:102,913,792...102,921,902
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G |
LAPTM5 |
lysosomal protein transmembrane 5 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25133636 |
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NCBI chr 2:70,188,382...70,215,361
Ensembl chr 2:70,152,739...70,333,073
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G |
LCN2 |
lipocalin 2 |
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ISO |
protein:increased expression:urine: |
RGD |
PMID:21467131 |
RGD:7245983 |
NCBI chr 9:55,328,118...55,342,535
Ensembl chr 9:55,328,133...55,332,038
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G |
LHFPL2 |
LHFPL tetraspan subfamily member 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25133636 |
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NCBI chr 3:28,255,389...28,279,510
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G |
LOC478984 |
low affinity immunoglobulin gamma Fc region receptor III |
disease_progression |
ISO |
DNA:polymorphism:exon:p.F176V(human) |
RGD |
PMID:16221721 |
RGD:5508463 |
NCBI chr38:21,054,870...21,060,948
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G |
LOC612553 |
membrane-spanning 4-domains subfamily A member 6D |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25133636 |
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NCBI chr21:50,569,747...50,579,721
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G |
MAN2B1 |
mannosidase alpha class 2B member 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25133636 |
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NCBI chr20:49,446,162...49,461,812
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G |
MERTK |
MER proto-oncogene, tyrosine kinase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25133636 |
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NCBI chr17:36,336,787...36,445,796
Ensembl chr17:36,336,861...36,445,380
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G |
MIR20A |
microRNA mir-20a |
disease_progression |
ISO |
|
RGD |
PMID:29459010 |
RGD:25823149 |
NCBI chr22:42,478,462...42,478,520
Ensembl chr22:42,478,462...42,478,520
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G |
MMP14 |
matrix metallopeptidase 14 |
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ISO |
mRNA:increased expression:glomerulus |
RGD |
PMID:9848780 |
RGD:2314955 |
NCBI chr 8:3,183,419...3,193,079
Ensembl chr 8:3,183,606...3,194,122
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G |
MTR |
5-methyltetrahydrofolate-homocysteine methyltransferase |
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ISO |
DNA:polymorphism:Cds :2756A>G(human) |
RGD |
PMID:21737517 |
RGD:7207085 |
NCBI chr 4:3,219,851...3,328,000
Ensembl chr 4:3,215,090...3,328,115
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G |
MUC20 |
mucin 20, cell surface associated |
disease_progression |
ISO |
DNA:repeat |
RGD |
PMID:16508246 |
RGD:7364789 |
NCBI chr33:29,044,104...29,055,583
Ensembl chr33:29,045,880...29,055,479
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G |
NGF |
nerve growth factor |
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ISO |
DNA:SNP: :rs11102930 (human) |
RGD |
PMID:21178826 |
RGD:7242801 |
NCBI chr17:52,900,647...52,901,607
Ensembl chr17:52,900,647...52,901,607
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G |
NOTCH2 |
notch receptor 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:32715474 |
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NCBI chr17:56,854,825...57,020,157
Ensembl chr17:56,860,429...57,020,857
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G |
OTUB1 |
OTU deubiquitinase, ubiquitin aldehyde binding 1 |
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ISO |
protein:increased expression:kidney |
RGD |
PMID:22279542 |
RGD:7175260 |
NCBI chr 3:40,225,531...40,226,507
Ensembl chr 3:40,225,474...40,226,612 Ensembl chr18:40,225,474...40,226,612
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G |
PDE5A |
phosphodiesterase 5A |
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ISO |
DNA:SNP: :rs13124532(human) |
RGD |
PMID:20563733 |
RGD:7248685 |
NCBI chr32:38,272,573...38,407,517
Ensembl chr32:38,244,338...38,407,522
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G |
PIGR |
polymeric immunoglobulin receptor |
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ISO |
ClinVar Annotator: match by term: IgA glomerulonephritis |
ClinVar |
PMID:12740691 PMID:16282702 |
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NCBI chr 7:6,070,407...6,087,605
Ensembl chr 7:6,070,407...6,087,605
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G |
PLA2G7 |
phospholipase A2 group VII |
disease_progression |
ISO |
DNA:polymorphism:exon: |
RGD |
PMID:12220450 |
RGD:7257515 |
NCBI chr12:14,866,229...14,908,230
Ensembl chr12:14,866,229...14,908,114
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G |
PLAU |
plasminogen activator, urokinase |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:9002298 |
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NCBI chr 4:24,329,139...24,333,893
Ensembl chr 4:24,328,925...24,334,851
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G |
PRC1 |
protein regulator of cytokinesis 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25133636 |
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NCBI chr 3:53,252,893...53,279,717
Ensembl chr 3:53,253,626...53,279,211
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G |
SCGB1A1 |
secretoglobin family 1A member 1 |
disease_progression |
ISO |
OMIM:161950 | OMIM:616818 |
RGD MouseDO |
PMID:11967037 |
RGD:6903255 |
NCBI chr18:54,187,487...54,191,493
Ensembl chr18:54,187,487...54,191,482
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G |
SELE |
selectin E |
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ISO |
ClinVar Annotator: match by term: IgA nephropathy, susceptibility to |
ClinVar |
PMID:11828340 PMID:16282702 |
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NCBI chr 7:28,888,503...28,898,787
Ensembl chr 7:28,888,197...28,898,786
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G |
SELL |
selectin L |
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ISO |
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RGD |
PMID:11828340 PMID:17452405 |
RGD:1625253 RGD:7175290 |
NCBI chr 7:28,906,752...28,927,959
Ensembl chr 7:28,906,809...29,094,008
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G |
SERPINB7 |
serpin family B member 7 |
disease_progression |
ISO |
DNA:SNPs:3' utr:2093C>T, 2180C>T (human) DNA:SNP: :23167A>G (human) DNA:SNP:5' utr, exon:267G>A (human) |
RGD |
PMID:16550745 PMID:16796905 PMID:18793525 |
RGD:7207366 RGD:7207372 RGD:7207380 |
NCBI chr 1:13,336,067...13,392,674
Ensembl chr 1:13,336,837...13,358,125
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G |
SHH |
sonic hedgehog signaling molecule |
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ISO |
|
RGD |
PMID:24744439 |
RGD:12859042 |
NCBI chr16:18,650,553...18,663,571
Ensembl chr16:18,484,809...18,662,903
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G |
SLC43A3 |
solute carrier family 43 member 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25133636 |
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NCBI chr18:38,723,146...38,745,048
Ensembl chr18:38,723,534...38,744,636
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G |
SPRY2 |
sprouty RTK signaling antagonist 2 |
susceptibility |
ISO |
ClinVar Annotator: match by term: IgA nephropathy, susceptibility to, 3 |
OMIM ClinVar |
PMID:25741868 PMID:25782674 |
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NCBI chr22:33,366,139...33,371,102
Ensembl chr22:33,366,931...33,367,878
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G |
ST6GALNAC2 |
ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17480010 |
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NCBI chr 9:4,154,685...4,165,054
Ensembl chr 9:4,152,689...4,165,416
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G |
STAT4 |
signal transducer and activator of transcription 4 |
disease_progression no_association |
ISO |
DNA:SNP: :rs7561832 (human) DNA:SNP:intron:c.274-28828C>G (rs10181656) (human) |
RGD |
PMID:20045654 PMID:20479942 |
RGD:7207872 RGD:7207878 |
NCBI chr37:1,566,563...1,685,378
Ensembl chr37:1,566,585...1,829,894
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G |
TIMP1 |
TIMP metallopeptidase inhibitor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25133636 |
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NCBI chr X:41,201,623...41,205,314
Ensembl chr X:41,201,638...41,205,310
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G |
TLR1 |
toll like receptor 1 |
susceptibility |
ISO |
DNA:snps:promoter, cds:g.-414C>T, p.N248S (rs5743557, rs4833095) (human) |
RGD |
PMID:21108742 |
RGD:7246898 |
NCBI chr 3:73,504,359...73,544,822
Ensembl chr 3:73,539,715...73,544,624
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G |
TLR9 |
toll like receptor 9 |
severity treatment |
ISO |
DNA:SNPs:intron, exon:IVS4-44A>G, c.1635G>A (rs352139, rs352140) (human) associated with Graft vs Host Disease associated with Graft vs Host Disease; mRNA:increased expression:splenocyte (mouse) DNA, mRNA:SNP, increased expression:exon, spleen:g.159C>G (mouse) |
RGD |
PMID:18776126 PMID:21621468 |
RGD:7246889 RGD:7246893 |
NCBI chr20:37,529,322...37,547,117
Ensembl chr20:37,542,340...37,547,114 Ensembl chr20:37,542,340...37,547,114
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G |
TNF |
tumor necrosis factor |
treatment |
ISO |
|
RGD |
PMID:9844059 |
RGD:6909132 |
NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
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G |
TNFRSF1A |
TNF receptor superfamily member 1A |
treatment |
ISO |
protein:increased expression:serum |
RGD |
PMID:9844059 PMID:16209246 |
RGD:6907414 RGD:6909132 |
NCBI chr27:38,641,837...38,654,693
Ensembl chr27:38,638,753...38,700,282
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G |
TNFRSF1B |
TNF receptor superfamily member 1B |
treatment |
ISO |
protein:increased expression:serum |
RGD |
PMID:9844059 PMID:16209246 |
RGD:6907414 RGD:6909132 |
NCBI chr 2:84,140,179...84,151,219
Ensembl chr 2:84,141,911...84,157,191
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G |
TNFSF13 |
TNF superfamily member 13 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22197929 |
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NCBI chr 5:32,482,723...32,484,790
Ensembl chr 5:32,482,723...32,484,789
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G |
TNFSF13B |
TNF superfamily member 13b |
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ISO |
OMIM:161950 |
MouseDO |
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NCBI chr22:57,036,307...57,069,053
Ensembl chr22:57,036,292...57,068,320
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G |
TNFSF14 |
TNF superfamily member 14 |
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ISO |
OMIM:161950 |
MouseDO |
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NCBI chr20:53,604,101...53,607,522
Ensembl chr20:53,603,709...53,607,522
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G |
VAV3 |
vav guanine nucleotide exchange factor 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25305756 |
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NCBI chr 6:43,663,787...44,002,362
Ensembl chr 6:43,559,985...44,000,811
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G |
VSIG4 |
V-set and immunoglobulin domain containing 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25133636 |
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NCBI chr X:50,839,979...50,881,684
Ensembl chr X:50,803,330...50,881,618
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G |
WAS |
WASP actin nucleation promoting factor |
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ISO |
OMIM:161950 | OMIM:616818 |
MouseDO |
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NCBI chr X:41,882,240...41,890,053
Ensembl chr X:41,882,875...41,890,058
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G |
CDKN1A |
cyclin dependent kinase inhibitor 1A |
treatment |
ISO |
|
RGD |
PMID:24119646 |
RGD:10043363 |
NCBI chr12:5,746,898...5,755,103
Ensembl chr12:5,745,852...5,892,281
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G |
IL13 |
interleukin 13 |
|
ISO |
|
RGD |
PMID:17429054 |
RGD:2290347 |
NCBI chr11:20,957,870...20,961,391
Ensembl chr11:20,958,464...20,961,388
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G |
IL17A |
interleukin 17A |
|
ISO |
Protein:increased expression:plasma (rat) |
RGD |
PMID:22772331 |
RGD:9068937 |
NCBI chr12:19,854,129...19,862,521
Ensembl chr12:19,854,129...19,862,513
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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 chr10:26,932,351...26,935,580
Ensembl chr10:26,932,301...26,935,646
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G |
LMX1B |
LIM homeobox transcription factor 1 beta |
|
ISO |
ClinVar Annotator: match by term: Lipoid nephrosis |
ClinVar |
PMID:23687361 PMID:32581362 |
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NCBI chr 9:56,542,844...56,625,609
Ensembl chr 9:56,542,826...56,625,530
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G |
NPHS1 |
NPHS1 adhesion molecule, nephrin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18256598 |
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NCBI chr 1:116,794,891...116,814,418
Ensembl chr 1:116,794,433...116,813,546
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G |
NR3C1 |
nuclear receptor subfamily 3 group C member 1 |
disease_progression |
ISO |
|
RGD |
PMID:17890747 |
RGD:7174718 |
NCBI chr 2:38,124,568...38,242,510
Ensembl chr 2:38,123,190...38,240,755
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G |
STAT6 |
signal transducer and activator of transcription 6 |
severity no_association |
ISO |
DNA:polymorphism:3' utr:g.2964G>A (human) DNA:polymorphism:3' utr:2964G>A (human) DNA:repeat:exon, 5' utr:g.-3041(GT)15-16 (human) |
RGD |
PMID:12900808 PMID:15687724 PMID:19011907 |
RGD:7244138 RGD:7244144 RGD:7244146 |
NCBI chr10:1,232,515...1,247,011
Ensembl chr10:1,233,691...1,247,075
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G |
AGER |
advanced glycosylation end-product specific receptor |
|
ISO |
DNA:polymorphisms:promoter, intron:g.-429T>C rs1800625, g.-374T>A rs1800624, g.2184A>G rs3134940 (human) |
RGD |
PMID:22513366 |
RGD:6767309 |
NCBI chr12:1,574,251...1,577,410
Ensembl chr12:1,574,251...1,577,129
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G |
APOC3 |
apolipoprotein C3 |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:17957542 |
RGD:7207211 |
NCBI chr 5:16,744,423...16,746,992
Ensembl chr 5:16,744,423...16,746,992
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G |
C3 |
complement C3 |
|
ISO |
protein:decreased expression:serum CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:21888025 PMID:31182691 |
RGD:7175544 |
NCBI chr20:53,566,226...53,598,365
Ensembl chr20:53,566,261...53,598,761
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G |
CCL2 |
C-C motif chemokine ligand 2 |
severity susceptibility |
ISO |
protein:increased expression:urine (human) DNA:snp:promoter:g.-2518A>G (human) |
RGD |
PMID:8558841 PMID:15188361 |
RGD:11528534 RGD:8549732 |
NCBI chr 9:39,008,187...39,009,932
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G |
CCR1 |
chemokine (C-C motif) receptor 1 |
disease_progression |
ISO |
|
RGD |
PMID:15153561 |
RGD:5688164 |
NCBI chr20:42,421,356...42,427,177
Ensembl chr20:42,421,356...42,426,958
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G |
CD40 |
CD40 molecule |
treatment |
ISO |
|
RGD |
PMID:18566369 PMID:19265127 PMID:23799000 |
RGD:7248418 RGD:7248425 RGD:7248429 |
NCBI chr24:33,352,992...33,383,488
Ensembl chr24:33,372,930...33,383,301
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G |
CD40LG |
CD40 ligand |
treatment |
ISO |
protein:increased expression:serum |
RGD |
PMID:11751940 PMID:12632425 PMID:13130474 PMID:15693003 PMID:20726330 |
RGD:7248426 RGD:7248439 RGD:7248600 RGD:7248710 RGD:7248714 |
NCBI chr X:107,001,421...107,023,007
Ensembl chr X:107,010,890...107,023,006
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G |
CFB |
complement factor B |
|
ISO |
|
RGD |
PMID:3183062 PMID:10623824 PMID:21893562 |
RGD:7242736 RGD:7242755 RGD:7242763 |
NCBI chr12:1,400,143...1,406,267
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G |
CFH |
complement factor H |
|
ISO |
|
RGD |
PMID:22171659 |
RGD:5684551 |
NCBI chr38:2,878,677...2,956,226
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G |
CLU |
clusterin |
|
ISO |
mRNA:increased expression: epithelial cell of renal tubule |
RGD |
PMID:9546356 |
RGD:8890679 |
NCBI chr25:29,982,811...29,999,565
Ensembl chr25:29,982,811...29,999,563
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G |
COL1A1 |
collagen type I alpha 1 chain |
|
ISO |
mRNA, protein:increased expression:kidney cortex associated with Graft vs Host Disease |
RGD |
PMID:7700025 PMID:7723234 PMID:21354048 |
RGD:5688301 RGD:5688332 RGD:5688333 |
NCBI chr 9:26,183,852...26,199,927
Ensembl chr 9:26,183,852...26,199,927
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|
G |
CRP |
C-reactive protein |
no_association |
ISO |
DNA:SNP |
RGD |
PMID:15692982 PMID:17596285 PMID:18852001 PMID:20039408 |
RGD:5508454 RGD:6907400 RGD:6909145 RGD:6909146 |
NCBI chr38:22,396,787...22,398,180
Ensembl chr38:22,396,263...22,399,166
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G |
CSF1 |
colony stimulating factor 1 |
|
ISO |
|
RGD |
PMID:17659436 PMID:21885670 |
RGD:7257567 RGD:7257589 |
NCBI chr 6:42,028,454...42,047,028
Ensembl chr 6:42,034,149...42,049,371
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|
G |
CTLA4 |
cytotoxic T-lymphocyte associated protein 4 |
|
ISO |
|
RGD |
PMID:15146424 |
RGD:7204726 |
NCBI chr37:12,647,712...12,653,874
Ensembl chr37:12,634,563...12,653,874
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|
G |
DLA-DRB1 |
MHC class II DLA DRB1 beta chain |
susceptibility |
ISO |
DNA:polymorphisms:cds:HLA-DRB1*1501 (human) |
RGD |
PMID:12651073 |
RGD:40902999 |
NCBI chr12:2,151,409...2,164,564
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G |
EGF |
epidermal growth factor |
|
ISO |
|
RGD |
PMID:21354048 |
RGD:5688301 |
NCBI chr32:30,073,541...30,166,904
Ensembl chr32:30,073,950...30,166,295
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G |
FAS |
Fas cell surface death receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:33632240 PMID:38555047 |
|
NCBI chr26:38,738,811...38,763,298
Ensembl chr26:38,737,611...38,763,321
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G |
FCGR2B |
Fc fragment of IgG receptor IIb |
|
ISO |
|
RGD |
PMID:15681388 |
RGD:7240529 |
NCBI chr38:20,980,777...20,994,403
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G |
IFNG |
interferon gamma |
|
ISO |
protein:increased processing:kidney CTD Direct Evidence: marker/mechanism protein:increased expression:serum,urine |
RGD CTD |
PMID:22764573 PMID:29925830 PMID:31182691 |
RGD:14974252 RGD:6893369 |
NCBI chr10:10,406,866...10,411,698
Ensembl chr10:10,406,867...10,411,698
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|
G |
IL17A |
interleukin 17A |
treatment |
ISO |
|
RGD |
PMID:25129462 |
RGD:9244623 |
NCBI chr12:19,854,129...19,862,521
Ensembl chr12:19,854,129...19,862,513
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G |
IL18 |
interleukin 18 |
|
ISO |
|
RGD |
PMID:20980973 |
RGD:6893449 |
NCBI chr 5:20,972,742...20,995,327
Ensembl chr 5:20,972,871...20,995,348
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G |
IL1B |
interleukin 1 beta |
|
ISO |
mRNA:increased expression:renal glomerulus (mouse) |
RGD |
PMID:20410215 PMID:21641991 |
RGD:7175315 RGD:7175344 |
NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458
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|
G |
IL1RN |
interleukin 1 receptor antagonist |
resistance |
ISO |
associated with Lupus Erythematosus, Systemic; protein:increased expression:serum (human) |
RGD |
PMID:20538031 |
RGD:6907068 |
NCBI chr17:37,236,690...37,250,424
Ensembl chr17:37,212,751...37,249,329
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G |
ITGAM |
integrin subunit alpha M |
|
ISO |
|
RGD |
PMID:21719445 |
RGD:5147916 |
NCBI chr 6:16,944,062...16,996,525
Ensembl chr 6:16,808,971...16,996,286
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G |
JAK1 |
Janus kinase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:31182691 |
|
NCBI chr 5:45,251,653...45,408,571
Ensembl chr 5:45,251,653...45,408,571
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G |
KLKB1 |
kallikrein B1 |
susceptibility |
ISO |
DNA:SNPs:promoter: |
RGD |
PMID:19307730 |
RGD:7327150 |
NCBI chr16:44,492,735...44,517,854
Ensembl chr16:44,469,632...44,540,292
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G |
LOC478984 |
low affinity immunoglobulin gamma Fc region receptor III |
susceptibility |
ISO |
DNA:SNP:cds:p.V158F (human) |
RGD |
PMID:17596285 |
RGD:5508454 |
NCBI chr38:21,054,870...21,060,948
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G |
LOC480600 |
chemokine (C-C motif) ligand 3 |
|
ISO |
|
RGD |
PMID:18187931 |
RGD:7241814 |
NCBI chr 9:37,708,561...37,710,209
Ensembl chr 9:37,676,966...37,710,209
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G |
MBL1 |
mannose binding lectin 1 |
disease_progression |
ISO |
DNA:polymorphism:exon: |
RGD |
PMID:24850777 |
RGD:12910847 |
NCBI chr 4:29,419,886...29,424,377
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G |
MIR125A |
microRNA mir-125a |
|
ISO |
RNA:decreased expression:kidney |
RGD |
PMID:30972208 |
RGD:26884458 |
NCBI chr 1:105,400,273...105,400,332
Ensembl chr 1:105,400,270...105,400,337
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G |
MMP2 |
matrix metallopeptidase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22479529 |
|
NCBI chr 2:60,471,092...60,492,991
Ensembl chr 2:60,471,257...60,494,113
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G |
MMP9 |
matrix metallopeptidase 9 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22479529 |
|
NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293
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G |
MPO |
myeloperoxidase |
susceptibility |
ISO |
DNA:polymorphism: :−463G > A (human) |
RGD |
PMID:17896805 |
RGD:7174701 |
NCBI chr 9:32,927,483...32,938,007
Ensembl chr 9:32,927,483...32,937,820
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G |
MTOR |
mechanistic target of rapamycin kinase |
|
ISO |
|
RGD |
PMID:17283580 |
RGD:7245502 |
NCBI chr 2:84,818,893...84,939,283
Ensembl chr 2:84,787,708...84,939,114
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G |
MUC20 |
mucin 20, cell surface associated |
|
ISO |
|
RGD |
PMID:14565953 |
RGD:7364790 |
NCBI chr33:29,044,104...29,055,583
Ensembl chr33:29,045,880...29,055,479
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G |
NR3C1 |
nuclear receptor subfamily 3 group C member 1 |
|
ISO |
|
RGD |
PMID:17880936 PMID:21509671 |
RGD:7174713 RGD:7174734 |
NCBI chr 2:38,124,568...38,242,510
Ensembl chr 2:38,123,190...38,240,755
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G |
OTUB1 |
OTU deubiquitinase, ubiquitin aldehyde binding 1 |
|
ISO |
protein:increased expression:kidney |
RGD |
PMID:22279542 |
RGD:7175260 |
NCBI chr 3:40,225,531...40,226,507
Ensembl chr 3:40,225,474...40,226,612 Ensembl chr18:40,225,474...40,226,612
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G |
PDCD1 |
programmed cell death 1 |
onset |
ISO |
DNA:polymorphism: : DNA:polymorphism:intron:6867 C>T (human) |
RGD |
PMID:15352422 PMID:15934088 PMID:21041733 |
RGD:7248675 RGD:7248676 RGD:7248678 |
NCBI chr25:51,606,559...51,618,903
Ensembl chr25:51,608,173...51,618,723
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G |
SELL |
selectin L |
|
ISO |
|
RGD |
PMID:20512127 |
RGD:7175284 |
NCBI chr 7:28,906,752...28,927,959
Ensembl chr 7:28,906,809...29,094,008
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G |
SERPING1 |
serpin family G member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:4014294 |
|
NCBI chr18:38,570,354...38,580,751
Ensembl chr18:38,570,607...38,581,665
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|
G |
SNRPE |
small nuclear ribonucleoprotein polypeptide E |
treatment |
ISO |
mouse model |
RGD |
PMID:15494537 |
RGD:10760401 |
NCBI chr38:515,808...521,536
Ensembl chr38:515,860...521,535
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|
G |
STAT1 |
signal transducer and activator of transcription 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:31182691 |
|
NCBI chr37:1,513,438...1,549,837
Ensembl chr37:1,507,219...1,550,178
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G |
STAT4 |
signal transducer and activator of transcription 4 |
|
ISO |
|
RGD |
PMID:20980973 |
RGD:6893449 |
NCBI chr37:1,566,563...1,685,378
Ensembl chr37:1,566,585...1,829,894
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G |
STAT6 |
signal transducer and activator of transcription 6 |
disease_progression |
ISO |
|
RGD |
PMID:12874250 |
RGD:7244140 |
NCBI chr10:1,232,515...1,247,011
Ensembl chr10:1,233,691...1,247,075
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G |
TLR7 |
toll like receptor 7 |
|
ISO |
|
RGD |
PMID:19944565 |
RGD:7246905 |
NCBI chr X:9,331,243...9,360,461
Ensembl chr X:9,314,815...9,359,603
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G |
TLR9 |
toll like receptor 9 |
severity no_association treatment |
ISO |
protein:increased expression:renal glomerulus (human) DNA:snps:intron, exon:g.+1174G>A, g.+1635C>T (rs352139, rs352140) (human, Chinese) mRNA, protein:increased expression:kidney (mouse) associated with Lupus Erythematosus, Systemic; DNA:snps:promoter, intron:g.-1486T>C, g.+1174A>G (rs187084, rs352139) (human, North Indian) associated with Graft vs Host Disease |
RGD |
PMID:17469139 PMID:19578108 PMID:20497632 PMID:21127878 PMID:22787315 PMID:23467932 More...
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RGD:7245987 RGD:7245989 RGD:7246884 RGD:7246896 RGD:7246897 RGD:7246911 |
NCBI chr20:37,529,322...37,547,117
Ensembl chr20:37,542,340...37,547,114 Ensembl chr20:37,542,340...37,547,114
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G |
TNF |
tumor necrosis factor |
|
ISO |
protein:increased expression:glomerular mesangial cell |
RGD |
PMID:7750940 |
RGD:7394786 |
NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
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G |
TNFRSF11B |
TNF receptor superfamily member 11b |
|
ISO |
associated with Lupus Erythematosus, Systemic;protein:increased expression:urine |
RGD |
PMID:21691937 |
RGD:7205483 |
NCBI chr13:18,155,765...18,183,263
Ensembl chr13:18,156,367...18,183,444
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G |
TNFRSF1A |
TNF receptor superfamily member 1A |
severity |
ISO |
|
RGD |
PMID:10906156 PMID:19201910 |
RGD:7245569 RGD:7245572 |
NCBI chr27:38,641,837...38,654,693
Ensembl chr27:38,638,753...38,700,282
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G |
TNFRSF1B |
TNF receptor superfamily member 1B |
treatment |
ISO |
|
RGD |
PMID:22674120 PMID:22846145 |
RGD:7245541 RGD:7245544 |
NCBI chr 2:84,140,179...84,151,219
Ensembl chr 2:84,141,911...84,157,191
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G |
VCAM1 |
vascular cell adhesion molecule 1 |
severity |
ISO |
protein:increased expression:urine |
RGD |
PMID:22788914 |
RGD:7241032 |
NCBI chr 6:49,341,669...49,359,841
Ensembl chr 6:49,342,151...49,359,933
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G |
ALB |
albumin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:1556257 |
|
NCBI chr13:62,133,747...62,169,349
Ensembl chr13:62,053,814...62,294,709
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G |
ANGPT2 |
angiopoietin 2 |
|
ISO |
protein:increased expression:glomerulus (rat) |
RGD |
PMID:16014048 PMID:18272601 |
RGD:2314193 RGD:2314222 |
NCBI chr16:58,404,049...58,458,344
Ensembl chr16:58,405,259...58,457,701
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G |
C1QA |
complement C1q A chain |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8840296 |
|
NCBI chr 2:76,668,086...76,671,082
Ensembl chr 2:76,668,217...76,670,977
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G |
C3 |
complement C3 |
|
ISO |
ClinVar Annotator: match by term: Mesangiocapillary glomerulonephritis |
ClinVar |
PMID:32581362 |
|
NCBI chr20:53,566,226...53,598,365
Ensembl chr20:53,566,261...53,598,761
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G |
CCL2 |
C-C motif chemokine ligand 2 |
treatment |
ISO |
|
RGD |
PMID:10411686 |
RGD:8549648 |
NCBI chr 9:39,008,187...39,009,932
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G |
CCN2 |
cellular communication network factor 2 |
|
ISO |
protein:increased expression:kidney, glomerulus (rat) |
RGD |
PMID:15172885 |
RGD:1601118 |
NCBI chr 1:25,508,082...25,511,058
Ensembl chr 1:25,507,662...25,510,145
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G |
CCR6 |
C-C motif chemokine receptor 6 |
treatment |
ISO |
|
RGD |
PMID:23192593 |
RGD:7483632 |
NCBI chr 1:54,932,798...54,960,646
Ensembl chr 1:54,932,690...54,959,740
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G |
CDK2 |
cyclin dependent kinase 2 |
|
ISO |
|
RGD |
PMID:17893107 |
RGD:2293563 |
NCBI chr10:300,863...306,546
Ensembl chr10:300,903...305,438
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G |
CDKN1B |
cyclin dependent kinase inhibitor 1B |
|
ISO |
protein:decreased expression:kidney |
RGD |
PMID:16787597 |
RGD:2293620 |
NCBI chr27:33,609,154...33,613,558
Ensembl chr27:33,611,760...33,612,906
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G |
CFB |
complement factor B |
|
ISO |
|
RGD |
PMID:2329415 PMID:12091909 |
RGD:7242760 RGD:734771 |
NCBI chr12:1,400,143...1,406,267
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G |
CFH |
complement factor H |
|
ISO |
ClinVar Annotator: match by term: Mesangiocapillary glomerulonephritis | ClinVar Annotator: match by term: Mesangiocapillary glomerulonephritis, type II | ClinVar Annotator: match by term: Non-immunoglobulin-mediated membranoproliferative glomerulonephritis |
ClinVar |
PMID:21415311 PMID:22223606 PMID:22403278 PMID:25741868 PMID:28492532 PMID:32581362 PMID:34189567 PMID:34508573 More...
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|
NCBI chr38:2,878,677...2,956,226
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G |
CFHR5 |
complement factor H related 5 |
|
ISO |
ClinVar Annotator: match by term: Mesangiocapillary glomerulonephritis, type II |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 7:5,723,819...5,752,881
Ensembl chr 7:5,724,129...5,752,816
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G |
CFI |
complement factor I |
|
ISO |
|
RGD |
PMID:18202746 |
RGD:6906892 |
NCBI chr32:29,936,447...29,986,755
Ensembl chr32:29,936,393...29,985,724
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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 chr35:11,808,892...11,815,383
Ensembl chr35:11,808,892...11,815,383
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G |
F5 |
coagulation factor V |
|
ISO |
|
RGD |
PMID:15172885 |
RGD:1601118 |
NCBI chr 7:28,999,481...29,069,603
Ensembl chr 7:28,999,512...29,069,296
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G |
FN1 |
fibronectin 1 |
|
ISO |
|
RGD |
PMID:10082755 |
RGD:7206847 |
NCBI chr37:22,456,854...22,522,410
Ensembl chr37:22,420,428...22,523,123
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G |
IL1B |
interleukin 1 beta |
|
ISO |
|
RGD |
PMID:21871881 |
RGD:7175308 |
NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458
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G |
KCNT2 |
potassium sodium-activated channel subfamily T member 2 |
|
ISO |
ClinVar Annotator: match by term: Mesangiocapillary glomerulonephritis |
ClinVar |
PMID:32581362 |
|
NCBI chr38:3,006,639...3,382,234
Ensembl chr38:3,006,140...3,380,218
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G |
MYOC |
myocilin |
|
ISO |
protein:increased expression:renal glomerulus (rat) |
RGD |
PMID:15610237 |
RGD:7401266 |
NCBI chr 7:27,335,314...27,346,821
Ensembl chr 7:27,335,314...27,346,820
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G |
PFN1 |
profilin 1 |
|
ISO |
|
RGD |
PMID:8651905 |
RGD:729497 |
NCBI chr 5:31,670,483...31,671,891
Ensembl chr 5:31,670,194...31,671,895
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G |
PON1 |
paraoxonase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16175651 |
|
NCBI chr14:20,565,620...20,600,774
Ensembl chr14:20,565,641...20,642,985
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G |
PRF1 |
perforin 1 |
|
ISO |
mRNA:increased expression:glomerulus |
RGD |
PMID:10886554 |
RGD:1599935 |
NCBI chr 4:21,497,865...21,502,429
Ensembl chr 4:21,498,249...21,500,864
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G |
SPARC |
secreted protein acidic and cysteine rich |
|
ISO |
mRNA:increased expression:glomerulus |
RGD |
PMID:8644857 |
RGD:2300070 |
NCBI chr 4:57,659,541...57,682,147
Ensembl chr 4:57,659,650...57,681,711
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G |
TGFBR2 |
transforming growth factor beta receptor 2 |
|
ISO |
|
RGD |
PMID:11703592 |
RGD:1601601 |
NCBI chr23:13,886,869...13,946,480
Ensembl chr23:13,889,000...13,977,636
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G |
TLR1 |
toll like receptor 1 |
|
ISO |
mRNA:increased expression:renal glomerulus (mouse) |
RGD |
PMID:18256364 |
RGD:7246909 |
NCBI chr 3:73,504,359...73,544,822
Ensembl chr 3:73,539,715...73,544,624
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G |
TLR2 |
toll like receptor 2 |
|
ISO |
mRNA:increased expression:renal glomerulus (mouse) |
RGD |
PMID:18256364 |
RGD:7246909 |
NCBI chr15:51,454,557...51,465,429
Ensembl chr15:51,454,695...51,465,241
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G |
TLR4 |
toll like receptor 4 |
|
ISO |
mRNA:increased expression:renal glomerulus (mouse) |
RGD |
PMID:18256364 |
RGD:7246909 |
NCBI chr11:71,356,390...71,367,166
Ensembl chr11:71,356,390...71,367,165
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G |
TLR5 |
toll like receptor 5 |
|
ISO |
mRNA:increased expression:renal glomerulus (mouse) |
RGD |
PMID:18256364 |
RGD:7246909 |
NCBI chr38:23,700,323...23,705,628
Ensembl chr38:23,702,033...23,705,314
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G |
TLR6 |
toll like receptor 6 |
|
ISO |
mRNA:increased expression:renal glomerulus (mouse) |
RGD |
PMID:18256364 |
RGD:7246909 |
NCBI chr 3:73,504,357...73,523,964
Ensembl chr 3:73,520,706...73,523,099
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G |
TLR7 |
toll like receptor 7 |
|
ISO |
mRNA:increased expression:renal glomerulus (mouse) |
RGD |
PMID:18256364 |
RGD:7246909 |
NCBI chr X:9,331,243...9,360,461
Ensembl chr X:9,314,815...9,359,603
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G |
TLR8 |
toll like receptor 8 |
|
ISO |
mRNA:increased expression:renal glomerulus (mouse) |
RGD |
PMID:18256364 |
RGD:7246909 |
NCBI chr X:9,381,159...9,399,938
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G |
TLR9 |
toll like receptor 9 |
|
ISO |
mRNA:increased expression:renal glomerulus (mouse) |
RGD |
PMID:18256364 |
RGD:7246909 |
NCBI chr20:37,529,322...37,547,117
Ensembl chr20:37,542,340...37,547,114 Ensembl chr20:37,542,340...37,547,114
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G |
TSLP |
thymic stromal lymphopoietin |
|
ISO |
CTD Direct Evidence: marker/mechanism OMIM:305800 |
CTD MouseDO |
PMID:17686814 |
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NCBI chr 3:1,502,469...1,507,696
Ensembl chr 3:1,503,188...1,507,696
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G |
ZC3H7B |
zinc finger CCCH-type containing 7B |
treatment |
ISO |
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RGD |
PMID:24344329 |
RGD:9588308 |
NCBI chr10:23,882,379...23,944,850
Ensembl chr10:23,884,981...23,920,131
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G |
A2M |
alpha-2-macroglobulin |
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ISO |
protein:increased expression:serum |
RGD |
PMID:9453001 |
RGD:10046046 |
NCBI chr27:36,654,328...36,695,775
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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 chr11:60,761,669...60,869,753
Ensembl chr11:60,761,655...60,890,496
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G |
ALB |
albumin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:1342223 PMID:9794552 PMID:11938814 PMID:12776520 PMID:15385633 PMID:17622271 More...
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NCBI chr13:62,133,747...62,169,349
Ensembl chr13:62,053,814...62,294,709
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G |
APOA1 |
apolipoprotein A1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7900854 |
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NCBI chr 5:16,740,071...16,742,081
Ensembl chr 5:16,740,130...16,741,943
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G |
APOE |
apolipoprotein E |
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ISO |
protein:increased expression:serum (rat) |
RGD |
PMID:22785171 |
RGD:6903854 |
NCBI chr 1:110,525,717...110,528,534
Ensembl chr 1:110,525,722...110,528,440
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G |
C3 |
complement C3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:10729746 PMID:25954969 |
RGD:5129563 |
NCBI chr20:53,566,226...53,598,365
Ensembl chr20:53,566,261...53,598,761
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G |
C7 |
complement C7 |
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ISO |
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RGD |
PMID:6241952 |
RGD:1599528 |
NCBI chr 4:68,450,660...68,502,753
Ensembl chr 4:68,451,578...68,513,386
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G |
CD40 |
CD40 molecule |
treatment |
ISO |
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RGD |
PMID:23223173 |
RGD:8547786 |
NCBI chr24:33,352,992...33,383,488
Ensembl chr24:33,372,930...33,383,301
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G |
CD40LG |
CD40 ligand |
treatment |
ISO |
associated with Lupus Erythematosus, Systemic |
RGD |
PMID:7564113 PMID:17911451 |
RGD:7248430 RGD:7248720 |
NCBI chr X:107,001,421...107,023,007
Ensembl chr X:107,010,890...107,023,006
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G |
CDKN1B |
cyclin dependent kinase inhibitor 1B |
treatment |
ISO |
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RGD |
PMID:24583340 |
RGD:10045363 |
NCBI chr27:33,609,154...33,613,558
Ensembl chr27:33,611,760...33,612,906
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G |
CFB |
complement factor B |
susceptibility |
ISO |
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RGD |
PMID:3272818 |
RGD:7242764 |
NCBI chr12:1,400,143...1,406,267
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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 chr38:2,878,677...2,956,226
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G |
DLA-DRB1 |
MHC class II DLA DRB1 beta chain |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11436868 |
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NCBI chr12:2,151,409...2,164,564
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G |
GAA |
alpha glucosidase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15466083 |
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NCBI chr 9:1,601,092...1,615,582
Ensembl chr 9:1,601,121...1,656,597
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G |
IL1B |
interleukin 1 beta |
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ISO |
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RGD |
PMID:20588061 |
RGD:7175342 |
NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458
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G |
LOC477072 |
serotransferrin |
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ISO |
associated with Lupus Erythematosus, Systemic |
RGD |
PMID:22328173 |
RGD:7244198 |
NCBI chr23:30,658,250...30,683,816
Ensembl chr23:30,595,704...30,683,845
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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 chr36:13,910,450...14,107,081
Ensembl chr36:13,911,865...14,107,546
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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:7723231 PMID:7778686 |
RGD:1641936 RGD:1641937 |
NCBI chr 3:60,840,804...60,852,821
Ensembl chr 3:60,840,882...60,901,258
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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 1:29,107,813...29,306,437
Ensembl chr 1:29,108,591...29,306,503
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G |
MME |
membrane metalloendopeptidase |
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ISO |
ClinVar Annotator: match by term: Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization |
ClinVar |
PMID:15464186 PMID:24033266 PMID:25565308 PMID:25741868 PMID:26991897 PMID:27588448 PMID:28492532 PMID:30415211 More...
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NCBI chr23:48,966,222...49,059,919
Ensembl chr23:48,971,066...49,059,919
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G |
MMP9 |
matrix metallopeptidase 9 |
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ISO |
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RGD |
PMID:8613533 |
RGD:8547919 |
NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293
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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 7:20,347,526...20,375,975
Ensembl chr 7:20,354,134...20,374,020
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G |
NQO1 |
NAD(P)H quinone dehydrogenase 1 |
treatment |
ISO |
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RGD |
PMID:28711658 |
RGD:13439719 |
NCBI chr 5:79,979,593...79,990,875
Ensembl chr 5:79,978,865...79,989,860
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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 6:74,932,789...74,986,573
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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 2:71,284,979...71,363,253
Ensembl chr 2:71,285,851...71,363,691
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G |
RHOA |
ras homolog family member A |
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ISO |
protein:increased activity:epithelial cell |
RGD |
PMID:17376765 |
RGD:1642963 |
NCBI chr20:39,824,552...39,888,089
Ensembl chr20:39,824,575...39,887,215
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G |
SHH |
sonic hedgehog signaling molecule |
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ISO |
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RGD |
PMID:24744439 |
RGD:12859042 |
NCBI chr16:18,650,553...18,663,571
Ensembl chr16:18,484,809...18,662,903
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G |
SPARC |
secreted protein acidic and cysteine rich |
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ISO |
protein:increased expression:kidney |
RGD |
PMID:8943481 |
RGD:2300069 |
NCBI chr 4:57,659,541...57,682,147
Ensembl chr 4:57,659,650...57,681,711
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G |
TBXAS1 |
thromboxane A synthase 1 |
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ISO |
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RGD |
PMID:8982653 |
RGD:1601473 |
NCBI chr16:8,870,283...9,032,105
Ensembl chr16:8,870,284...9,023,462
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G |
TSLP |
thymic stromal lymphopoietin |
treatment |
ISO |
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RGD |
PMID:11920357 |
RGD:38549592 |
NCBI chr 3:1,502,469...1,507,696
Ensembl chr 3:1,503,188...1,507,696
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G |
FBN1 |
fibrillin 1 |
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ISO |
mRNA:increased expression:cortex of kidney |
RGD |
PMID:25482639 |
RGD:12910487 |
NCBI chr30:14,640,973...14,864,151
Ensembl chr30:14,640,973...14,864,151
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G |
FGFR1 |
fibroblast growth factor receptor 1 |
|
ISO |
mRNA:increased expression:mesangial cell |
RGD |
PMID:10592054 |
RGD:10402100 |
NCBI chr16:27,029,902...27,080,514
Ensembl chr16:27,031,588...27,078,261
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G |
GADD45G |
growth arrest and DNA damage inducible gamma |
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ISO |
mRNA,protein:increased expression:kidney |
RGD |
PMID:16736195 |
RGD:14700866 |
NCBI chr 1:96,745,001...96,746,535
Ensembl chr 1:96,744,985...96,746,520
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G |
ITGA8 |
integrin subunit alpha 8 |
|
ISO |
mRNA:increased expression:cortex of kidney |
RGD |
PMID:25482639 |
RGD:12910487 |
NCBI chr 2:21,034,630...21,244,304
Ensembl chr 2:21,075,653...21,241,951
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G |
ITGAM |
integrin subunit alpha M |
exacerbates |
ISO |
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RGD |
PMID:10623679 |
RGD:329901927 |
NCBI chr 6:16,944,062...16,996,525
Ensembl chr 6:16,808,971...16,996,286
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G |
NR4A1 |
nuclear receptor subfamily 4 group A member 1 |
|
ISO |
mRNA,protein:increased expression:kidney |
RGD |
PMID:16736195 |
RGD:14700866 |
NCBI chr27:2,947,729...2,965,045
Ensembl chr27:2,891,053...2,955,655
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G |
PDGFD |
platelet derived growth factor D |
treatment |
ISO |
mRNA,protein:increased expression:glomerulus,serum: |
RGD |
PMID:12937299 PMID:17308324 |
RGD:9854629 RGD:9854637 |
NCBI chr 5:27,863,739...28,092,376
Ensembl chr 5:27,863,591...28,089,936
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G |
RAPGEF1 |
Rap guanine nucleotide exchange factor 1 |
|
ISO |
protein:increased expression:renal glomerulus |
RGD |
PMID:20725139 |
RGD:11534982 |
NCBI chr 9:52,429,204...52,566,775
Ensembl chr 9:52,450,597...52,563,778
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G |
VWF |
von Willebrand factor |
|
ISO |
protein:increased expression:glomerulus: |
RGD |
PMID:10450036 |
RGD:11079208 |
NCBI chr27:38,834,812...38,972,614
Ensembl chr27:38,833,837...39,320,142
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G |
ANXA5 |
annexin A5 |
|
ISO |
protein:increased expression:urine |
RGD |
PMID:17999093 |
RGD:7242031 |
NCBI chr19:18,419,936...18,450,088
Ensembl chr19:18,407,587...18,570,378
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G |
AVIL |
advillin |
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ISO |
ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome |
ClinVar |
PMID:25741868 PMID:29058690 |
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NCBI chr10:1,855,598...1,875,156
Ensembl chr10:1,856,162...1,872,303
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G |
AXDND1 |
axonemal dynein light chain domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Nephrotic syndrome, type 2 | ClinVar Annotator: match by term: Nephrotic syndrome, type 2, susceptibility to | ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome |
ClinVar |
PMID:8589695 PMID:9536098 PMID:10742096 PMID:11805166 PMID:12464671 PMID:12707396 PMID:14675423 PMID:14701729 PMID:14978175 PMID:15015071 PMID:15253708 PMID:15327385 PMID:15496146 PMID:15769810 PMID:15817495 PMID:16354237 PMID:16898497 PMID:17371932 PMID:17576681 PMID:17699384 PMID:17899208 PMID:18216321 PMID:18443213 PMID:18709391 PMID:18823551 PMID:19145239 PMID:19371226 PMID:19406966 PMID:19876656 PMID:20507940 PMID:20798252 PMID:20947785 PMID:21171529 PMID:21355056 PMID:21415313 PMID:22565185 PMID:22578956 PMID:22763815 PMID:23242530 PMID:23349334 PMID:23515051 PMID:23595123 PMID:23645318 PMID:24033266 PMID:24227627 PMID:24413855 PMID:24509478 PMID:24742477 PMID:24856380 PMID:25349199 PMID:25525159 PMID:25720465 PMID:25741868 PMID:26211502 PMID:26413278 PMID:26420286 PMID:26455708 PMID:26467025 PMID:26594346 PMID:26668027 PMID:28117080 PMID:28476686 PMID:28492532 PMID:28658201 PMID:28780565 PMID:29382718 PMID:29644057 PMID:29660491 PMID:29982877 PMID:30013592 PMID:30260545 PMID:30295827 PMID:30348286 PMID:30406062 PMID:30450462 PMID:30655312 PMID:31027891 PMID:31308032 PMID:32581362 PMID:32604935 PMID:33102883 PMID:33193607 PMID:33305316 PMID:33532864 PMID:35368817 PMID:36167728 PMID:36239278 More...
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NCBI chr 7:20,375,973...20,480,886
Ensembl chr 7:20,383,249...20,480,823
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G |
COL4A3 |
collagen type IV alpha 3 chain |
|
ISO |
ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr25:39,975,547...40,106,833
Ensembl chr25:39,975,586...40,104,782
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G |
COL4A4 |
collagen type IV alpha 4 chain |
|
ISO |
ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr25:39,849,680...39,976,035
Ensembl chr25:39,854,388...39,976,189
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G |
COL4A5 |
collagen type IV alpha 5 chain |
|
ISO |
ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome |
ClinVar |
PMID:32581362 |
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NCBI chr X:81,982,119...82,248,428
Ensembl chr X:81,982,275...82,247,679
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G |
CRB2 |
crumbs cell polarity complex component 2 |
|
ISO |
ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome |
ClinVar |
PMID:25557779 PMID:25741868 PMID:27004616 PMID:27942854 PMID:28492532 PMID:30212996 PMID:32581362 More...
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NCBI chr 9:59,427,661...59,450,436
Ensembl chr 9:59,427,569...59,450,434
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G |
EEF1AKMT3 |
EEF1A lysine methyltransferase 3 |
|
ISO |
ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome |
ClinVar |
PMID:25741868 PMID:29058690 |
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NCBI chr10:1,833,759...1,842,646
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G |
FAT1 |
FAT atypical cadherin 1 |
|
ISO |
ClinVar Annotator: match by term: Familial idiopathic steroid-resistant nephrotic syndrome |
ClinVar |
PMID:25615407 PMID:25741868 PMID:26905694 PMID:30862798 |
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NCBI chr16:44,113,621...44,241,187
Ensembl chr16:44,128,386...44,241,192
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G |
NPHS1 |
NPHS1 adhesion molecule, nephrin |
|
ISO |
ClinVar Annotator: match by term: Familial idiopathic steroid-resistant nephrotic syndrome |
ClinVar |
PMID:15086927 PMID:15968559 PMID:17211152 PMID:25741868 PMID:28476686 PMID:28492532 More...
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NCBI chr 1:116,794,891...116,814,418
Ensembl chr 1:116,794,433...116,813,546
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G |
NPHS2 |
NPHS2 stomatin family member, podocin |
|
ISO |
ClinVar Annotator: match by term: NPHS2-related condition | ClinVar Annotator: match by term: Nephrotic syndrome, type 2 | ClinVar Annotator: match by term: Nephrotic syndrome, type 2, susceptibility to | ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome |
OMIM ClinVar |
PMID:1523708 PMID:8589695 PMID:8606597 PMID:9536098 PMID:10742096 PMID:11729243 PMID:11733557 PMID:11805166 PMID:11805168 PMID:11854170 PMID:12446471 PMID:12464671 PMID:12608558 PMID:12644922 PMID:12649741 PMID:12707396 PMID:12776285 PMID:14570703 PMID:14675423 PMID:14701729 PMID:14978175 PMID:15015071 PMID:15042551 PMID:15059485 PMID:15253708 PMID:15264208 PMID:15322893 PMID:15327385 PMID:15496146 PMID:15504144 PMID:15769810 PMID:15780077 PMID:15817495 PMID:15954915 PMID:15968559 PMID:16199547 PMID:16286890 PMID:16291839 PMID:16354237 PMID:16481888 PMID:16721582 PMID:16810518 PMID:16898497 PMID:16900088 PMID:17109732 PMID:17216259 PMID:17218332 PMID:17371932 PMID:17576681 PMID:17699384 PMID:17899208 PMID:17942957 PMID:18216321 PMID:18380020 PMID:18443213 PMID:18499321 PMID:18596732 PMID:18683072 PMID:18709391 PMID:18726620 PMID:18823551 PMID:19067903 PMID:19145239 PMID:19268410 PMID:19371226 PMID:19406966 PMID:19520069 PMID:19674119 PMID:19812541 PMID:19876656 PMID:20001346 PMID:20333530 PMID:20507940 PMID:20798252 PMID:20947785 PMID:21125408 PMID:21171529 PMID:21355056 PMID:21415313 PMID:21636722 PMID:21722858 PMID:22228437 PMID:22565185 PMID:22578956 PMID:22763815 PMID:23013956 PMID:23242530 PMID:23349334 PMID:23515051 PMID:23595123 PMID:23645318 PMID:23800802 PMID:23913389 PMID:24033266 PMID:24072147 PMID:24089165 PMID:24227627 PMID:24413855 PMID:24500309 PMID:24509478 PMID:24511133 PMID:24596097 PMID:24715228 PMID:24742477 PMID:24856380 PMID:24969201 PMID:25060053 PMID:25349199 PMID:25525159 PMID:25573908 PMID:25599733 PMID:25720465 PMID:25741868 PMID:25852895 PMID:25903641 PMID:26138234 PMID:26211502 PMID:26413278 PMID:26420286 PMID:26455708 PMID:26467025 PMID:26467726 PMID:26594346 PMID:26668027 PMID:26820844 PMID:27885584 PMID:28117080 PMID:28204945 PMID:28385484 PMID:28476686 PMID:28492532 PMID:28529802 PMID:28658201 PMID:28712774 PMID:28780565 PMID:29049388 PMID:29127259 PMID:29382718 PMID:29644057 PMID:29660491 PMID:29869118 PMID:29982877 PMID:30013592 PMID:30241959 PMID:30260545 PMID:30295827 PMID:30348286 PMID:30406062 PMID:30450462 PMID:30609409 PMID:30655312 PMID:30721404 PMID:31027891 PMID:31308032 PMID:31738409 PMID:32129207 PMID:32467597 PMID:32581362 PMID:32604935 PMID:33102883 PMID:33193607 PMID:33305316 PMID:33428103 PMID:33532864 PMID:33980730 PMID:34031707 PMID:34405919 PMID:34853150 PMID:35368817 PMID:36167728 PMID:36239278 More...
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NCBI chr 7:20,347,526...20,375,975
Ensembl chr 7:20,354,134...20,374,020
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G |
NR3C1 |
nuclear receptor subfamily 3 group C member 1 |
|
ISO |
mRNA:alternative form:blood, mononuclear cell |
RGD |
PMID:20419394 |
RGD:7174729 |
NCBI chr 2:38,124,568...38,242,510
Ensembl chr 2:38,123,190...38,240,755
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G |
NUP205 |
nucleoporin 205 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26878725 |
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NCBI chr16:12,609,392...12,688,871
Ensembl chr16:12,609,403...12,689,136
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G |
NUP93 |
nucleoporin 93 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26878725 |
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NCBI chr 2:59,465,482...59,573,871
Ensembl chr 2:59,465,487...59,574,033
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G |
PAX2 |
paired box 2 |
|
ISO |
ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome |
ClinVar |
PMID:3377002 PMID:8589702 PMID:9106533 PMID:11093271 PMID:11241473 PMID:11461952 PMID:22213154 PMID:22350371 PMID:24429398 PMID:24676634 PMID:25741868 PMID:27226968 PMID:28492532 PMID:31001663 PMID:32203253 PMID:33532864 PMID:34696790 PMID:35444690 More...
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NCBI chr28:13,442,894...13,519,853
Ensembl chr28:13,442,893...13,532,094
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G |
PLA2G7 |
phospholipase A2 group VII |
disease_progression |
ISO |
|
RGD |
PMID:9853251 |
RGD:7248793 |
NCBI chr12:14,866,229...14,908,230
Ensembl chr12:14,866,229...14,908,114
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G |
PLCE1 |
phospholipase C epsilon 1 |
|
ISO |
DNA:mutations: : |
RGD |
PMID:20591883 |
RGD:7257521 |
NCBI chr28:8,209,707...8,484,427
Ensembl chr28:8,210,058...8,481,770
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G |
SMARCAL1 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 |
|
ISO |
ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome |
ClinVar |
PMID:11799392 PMID:15880370 PMID:16840568 PMID:17089404 PMID:18805831 PMID:19127206 PMID:20301550 PMID:21914180 PMID:22998683 PMID:24589093 PMID:25741868 PMID:26499378 PMID:28492532 PMID:28796785 PMID:29127259 More...
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NCBI chr37:23,364,941...23,425,206
Ensembl chr37:23,367,220...23,419,248
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G |
TRPC6 |
transient receptor potential cation channel subfamily C member 6 |
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ISO |
DNA:missense mutations, SNPs:exon, intron:multiple |
RGD |
PMID:21511817 |
RGD:7247446 |
NCBI chr 5:29,897,378...30,007,885
Ensembl chr 5:29,897,210...30,007,723
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G |
WT1 |
WT1 transcription factor |
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ISO |
ClinVar Annotator: match by term: Familial idiopathic steroid-resistant nephrotic syndrome | ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome |
ClinVar |
PMID:1302008 PMID:1327525 PMID:1338906 PMID:1655284 PMID:1658787 PMID:6307071 PMID:7795587 PMID:8295405 PMID:9090524 PMID:9398852 PMID:9475094 PMID:9499425 PMID:9529364 PMID:9536098 PMID:9607189 PMID:10094551 PMID:10470095 PMID:10505699 PMID:10505700 PMID:10561752 PMID:10670748 PMID:10762296 PMID:10792605 PMID:11007843 PMID:11182928 PMID:12050205 PMID:12970737 PMID:15150775 PMID:15509792 PMID:16439601 PMID:17496156 PMID:17541636 PMID:17576681 PMID:17694336 PMID:17853480 PMID:19484379 PMID:20442690 PMID:21499692 PMID:22099579 PMID:22815844 PMID:22908070 PMID:23295293 PMID:23302619 PMID:23497137 PMID:23515051 PMID:23715653 PMID:23935527 PMID:24033266 PMID:24161391 PMID:24856380 PMID:25501161 | |