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 chr11:105,858,774...105,880,790
Ensembl chr11:105,858,771...105,880,790
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Adm |
adrenomedullin |
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ISO |
CTD Direct Evidence: marker/mechanism associated with Anti-Glomerular Basement Membrane Disease |
CTD RGD |
PMID:15063164 PMID:15680492 PMID:20431304 PMID:16735801 |
RGD:2325320, RGD:1625317 |
NCBI chr 7:110,226,864...110,229,027
Ensembl chr 7:110,226,868...110,229,027
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Agt |
angiotensinogen |
disease_progression |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:11459117 PMID:15888567 |
RGD:13432360 |
NCBI chr 8:125,283,326...125,296,445
Ensembl chr 8:125,283,273...125,296,445
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Agtr2 |
angiotensin II receptor, type 2 |
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ISO |
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RGD |
PMID:19139720 |
RGD:6903845 |
NCBI chr X:21,350,863...21,355,072
Ensembl chr X:21,350,783...21,355,403
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Aif1 |
allograft inflammatory factor 1 |
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ISO |
protein:increased expression:kidney (rat) |
RGD |
PMID:17035944 |
RGD:2313038 |
NCBI chr17:35,389,967...35,394,977
Ensembl chr17:35,389,967...35,395,044
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Alb |
albumin |
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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 chr 5:90,608,729...90,624,461
Ensembl chr 5:90,608,756...90,624,461
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Alox15 |
arachidonate 15-lipoxygenase |
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ISO |
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RGD |
PMID:7967345 |
RGD:5128564 |
NCBI chr11:70,234,973...70,279,465
Ensembl chr11:70,234,978...70,242,857
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Alox5ap |
arachidonate 5-lipoxygenase activating protein |
onset |
ISO |
protein:increased expression:glomerulus, endothelial cell, cytoplasm (rat) |
RGD |
PMID:14733414 |
RGD:2313931 |
NCBI chr 5:149,201,814...149,224,963
Ensembl chr 5:149,201,577...149,224,963
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Anxa5 |
annexin A5 |
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ISO |
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RGD |
PMID:11271515 |
RGD:7241853 |
NCBI chr 3:36,503,072...36,530,036
Ensembl chr 3:36,503,072...36,530,043
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Apoe |
apolipoprotein E |
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IMP |
Apoe(-/-) Id3(-/-) double knockout |
RGD |
PMID:21801865 |
RGD:6903286 |
NCBI chr 7:19,430,169...19,434,326
Ensembl chr 7:19,430,034...19,433,113
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Axl |
AXL receptor tyrosine kinase |
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ISO |
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RGD |
PMID:11290560 |
RGD:1579882 |
NCBI chr 7:25,455,925...25,488,502
Ensembl chr 7:25,456,698...25,488,130
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Bcl2l11 |
BCL2 like 11 |
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IMP |
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RGD |
PMID:10576740 |
RGD:734641 |
NCBI chr 2:127,967,958...128,004,467
Ensembl chr 2:127,967,958...128,004,467
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Bdkrb1 |
bradykinin receptor, beta 1 |
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IMP |
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RGD |
PMID:20448019 |
RGD:7241551 |
NCBI chr12:105,570,350...105,571,770
Ensembl chr12:105,569,344...105,571,687
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C1qa |
complement component 1, q subcomponent, alpha polypeptide |
susceptibility |
ISO |
DNA:nonsense mutation (human) |
RGD |
PMID:8840296 |
RGD:1600549 |
NCBI chr 4:136,623,227...136,626,155
Ensembl chr 4:136,623,228...136,626,114
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C3 |
complement component 3 |
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ISO |
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RGD |
PMID:11950907 |
RGD:5129550 |
NCBI chr17:57,510,967...57,535,136
Ensembl chr17:57,510,970...57,535,136
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C6 |
complement component 6 |
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ISO |
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RGD |
PMID:10807586 |
RGD:1600489 |
NCBI chr15:4,756,550...4,833,527
Ensembl chr15:4,756,657...4,844,449
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Ccl1 |
C-C motif chemokine ligand 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:10385480 PMID:11157384 |
RGD:8693624 |
NCBI chr11:82,067,492...82,070,638
Ensembl chr11:82,067,483...82,196,516
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Ccl2 |
C-C motif chemokine ligand 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10385480 |
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NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279
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Ccl3 |
C-C motif chemokine ligand 3 |
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IEP ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:10385480 PMID:18941245 |
RGD:7241804 |
NCBI chr11:83,538,669...83,540,204
Ensembl chr11:83,538,670...83,540,181
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Ccl4 |
C-C motif chemokine ligand 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10385480 |
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NCBI chr11:83,553,410...83,555,509
Ensembl chr11:83,553,410...83,555,509
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Ccl5 |
C-C motif chemokine ligand 5 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10385480 |
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NCBI chr11:83,416,604...83,421,344
Ensembl chr11:83,416,604...83,421,344
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Ccl7 |
C-C motif chemokine ligand 7 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:10385480 PMID:11157384 |
RGD:8693624 |
NCBI chr11:81,936,538...81,938,351
Ensembl chr11:81,936,538...81,938,351
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Cd163 |
CD163 antigen |
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ISO |
associated with liver disease;protein:increased expression:blood serum (human) |
RGD |
PMID:26339412 |
RGD:11251207 |
NCBI chr 6:124,281,596...124,307,488
Ensembl chr 6:124,281,615...124,307,486
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Cd59a |
CD59a antigen |
resistance |
ISO |
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RGD |
PMID:7523753 |
RGD:1600500 |
NCBI chr 2:103,926,177...103,945,755
Ensembl chr 2:103,926,146...103,945,699
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Cd59b |
CD59b antigen |
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ISO |
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RGD |
PMID:7523753 |
RGD:1600500 |
NCBI chr 2:103,900,127...103,920,619
Ensembl chr 2:103,896,142...103,921,534
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Cfd |
complement factor D |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:14675043 |
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NCBI chr10:79,726,687...79,728,489
Ensembl chr10:79,726,687...79,728,489
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Cfh |
complement component factor h |
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IMP |
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RGD |
PMID:17344423 |
RGD:7365002 |
NCBI chr 1:140,013,593...140,111,149
Ensembl chr 1:140,012,446...140,111,502
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Cfi |
complement component factor i |
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IAGP |
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MouseDO |
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NCBI chr 3:129,630,432...129,668,978
Ensembl chr 3:129,629,533...129,668,981
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Cndp1 |
carnosine dipeptidase 1 |
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ISO |
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RGD |
PMID:20851293 |
RGD:7207223 |
NCBI chr18:84,628,509...84,668,359
Ensembl chr18:84,628,634...84,668,220
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Col4a3 |
collagen, type IV, alpha 3 |
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ISO |
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RGD |
PMID:11158397 |
RGD:1600928 |
NCBI chr 1:82,564,647...82,699,778
Ensembl chr 1:82,564,642...82,699,780
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Col4a4 |
collagen, type IV, alpha 4 |
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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 chr 1:82,426,140...82,564,570
Ensembl chr 1:82,426,144...82,564,570
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Cpb2 |
carboxypeptidase B2 |
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IMP |
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RGD |
PMID:18612543 |
RGD:7243117 |
NCBI chr14:75,479,727...75,520,995
Ensembl chr14:75,479,727...75,520,995
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Csf1 |
colony stimulating factor 1 (macrophage) |
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ISO |
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RGD |
PMID:11477167 |
RGD:7257579 |
NCBI chr 3:107,648,364...107,668,048
Ensembl chr 3:107,648,364...107,667,785
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Cx3cl1 |
C-X3-C motif chemokine ligand 1 |
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ISO |
mRNA, protein:increased expression:glomerulus, urine |
RGD |
PMID:14605272 |
RGD:4891995 |
NCBI chr 8:95,498,808...95,509,055
Ensembl chr 8:95,498,637...95,509,055
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Cx3cr1 |
C-X3-C motif chemokine receptor 1 |
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ISO |
mRNA:increased expression:glomerulus |
RGD |
PMID:14605272 PMID:10432400 |
RGD:4891995, RGD:4892027 |
NCBI chr 9:119,877,749...119,897,362
Ensembl chr 9:119,877,749...119,898,945
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Cxcl15 |
C-X-C motif chemokine ligand 15 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9403216 PMID:10910440 |
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NCBI chr 5:90,942,393...90,950,926
Ensembl chr 5:90,942,393...90,950,926
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Cxcr3 |
C-X-C motif chemokine receptor 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12517959 |
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NCBI chr X:100,775,141...100,777,753
Ensembl chr X:100,775,141...100,777,875
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Des |
desmin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20962747 |
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NCBI chr 1:75,336,936...75,345,223
Ensembl chr 1:75,336,973...75,345,223
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Elane |
elastase, neutrophil expressed |
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IMP |
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RGD |
PMID:19752320 |
RGD:6907051 |
NCBI chr10:79,722,146...79,724,050
Ensembl chr10:79,722,081...79,724,049
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Ep300 |
E1A binding protein p300 |
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ISO |
protein:increased expression:glomerulus, renal tubule (human) |
RGD |
PMID:17125594 |
RGD:7327154 |
NCBI chr15:81,470,329...81,536,273
Ensembl chr15:81,469,552...81,536,278
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Esr1 |
estrogen receptor 1 (alpha) |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20962747 |
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NCBI chr10:4,561,989...4,955,633
Ensembl chr10:4,561,593...4,955,614
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F2 |
coagulation factor II |
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ISO |
protein:increased expression;urine |
RGD |
PMID:17519558 PMID:15164604 |
RGD:6893586, RGD:6893593 |
NCBI chr 2:91,442,742...91,466,799
Ensembl chr 2:91,455,665...91,466,759
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Fas |
Fas cell surface death receptor |
treatment |
IMP ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:21880982 PMID:36999444 PMID:9466307 |
RGD:8686428 |
NCBI chr19:34,267,926...34,305,175
Ensembl chr19:34,268,066...34,305,172
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Fbn1 |
fibrillin 1 |
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ISO |
mRNA:increased expression:renal cortex, renal glomerulus (rat) mRNA, protein:increased expression:renal glomerulus (rat) |
RGD |
PMID:16395273 PMID:16282705 |
RGD:7365077, RGD:7387262 |
NCBI chr 2:125,142,514...125,348,417
Ensembl chr 2:125,142,514...125,349,913
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Fcgr2b |
Fc receptor, IgG, low affinity IIb |
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ISO |
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RGD |
PMID:19640933 |
RGD:5508403 |
NCBI chr 1:170,786,186...170,804,141
Ensembl chr 1:170,786,186...170,804,116
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Fcgr3 |
Fc receptor, IgG, low affinity III |
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IMP |
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RGD |
PMID:19050295 |
RGD:5508439 |
NCBI chr 1:170,878,738...170,893,477
Ensembl chr 1:170,878,743...170,892,504
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Fcgr4 |
Fc receptor, IgG, low affinity IV |
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IMP |
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RGD |
PMID:19050295 |
RGD:5508439 |
NCBI chr 1:170,846,495...170,857,330
Ensembl chr 1:170,846,489...170,857,330
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Fn1 |
fibronectin 1 |
disease_progression |
ISO |
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RGD |
PMID:20484935 |
RGD:7206839 |
NCBI chr 1:71,624,632...71,692,439
Ensembl chr 1:71,624,679...71,692,359
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Fos |
FBJ osteosarcoma oncogene |
treatment |
ISO |
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RGD |
PMID:11880336 PMID:31821871 |
RGD:7242278, RGD:405650596 |
NCBI chr12:85,520,664...85,524,048
Ensembl chr12:85,520,664...85,524,047
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Gas6 |
growth arrest specific 6 |
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ISO |
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RGD |
PMID:11290560 |
RGD:1579882 |
NCBI chr 8:13,515,374...13,544,535
Ensembl chr 8:13,515,374...13,544,490
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Gdnf |
glial cell line derived neurotrophic factor |
treatment |
ISO |
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RGD |
PMID:22105543 |
RGD:405866361 |
NCBI chr15:7,839,529...7,867,061
Ensembl chr15:7,840,327...7,867,056
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Gja5 |
gap junction protein, alpha 5 |
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ISO |
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RGD |
PMID:22945766 |
RGD:7207390 |
NCBI chr 3:96,939,718...96,960,950
Ensembl chr 3:96,812,009...96,984,732
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Ifng |
interferon gamma |
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IDA ISO |
CTD Direct Evidence: marker/mechanism associated with kidney transplantation;mRNA:increased expression:kidney |
CTD RGD |
PMID:1825860 PMID:22495297 PMID:21546865 |
RGD:6893377, RGD:6893462 |
NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797
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Il10 |
interleukin 10 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10910440 |
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NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711
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Il18 |
interleukin 18 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:18462998 |
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NCBI chr 9:50,466,000...50,493,141
Ensembl chr 9:50,466,127...50,493,140
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Il1a |
interleukin 1 alpha |
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IEP |
associated with Malaria |
RGD |
PMID:10469263 |
RGD:6907108 |
NCBI chr 2:129,141,530...129,151,892
Ensembl chr 2:129,141,530...129,151,892
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Il1b |
interleukin 1 beta |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9403216 PMID:10910440 |
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NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059
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Il1r1 |
interleukin 1 receptor, type I |
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IMP |
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RGD |
PMID:17500042 |
RGD:7207036 |
NCBI chr 1:40,261,651...40,355,361
Ensembl chr 1:40,264,240...40,356,417
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Il1rn |
interleukin 1 receptor antagonist |
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ISO IEP |
mouse model treated with human protein mRNA:increased expression:kidney (mouse) |
RGD |
PMID:22241891 PMID:21304992 |
RGD:6906885, RGD:6906960 |
NCBI chr 2:24,226,872...24,241,503
Ensembl chr 2:24,226,865...24,241,506
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Il2 |
interleukin 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9403216 PMID:10910440 |
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NCBI chr 3:37,174,862...37,180,103
Ensembl chr 3:37,174,672...37,180,108
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Il2ra |
interleukin 2 receptor, alpha chain |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10910440 |
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NCBI chr 2:11,647,603...11,698,005
Ensembl chr 2:11,647,618...11,698,004
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Il6 |
interleukin 6 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9403216 |
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NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979
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Inf2 |
inverted formin, FH2 and WH2 domain containing |
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ISO |
ClinVar Annotator: match by term: Glomerulonephritis |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr12:112,555,121...112,581,991
Ensembl chr12:112,555,218...112,581,991
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Itga3 |
integrin alpha 3 |
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ISO |
protein:decreased expression:glomerulus (rat) |
RGD |
PMID:19662603 |
RGD:2325666 |
NCBI chr11:94,935,301...94,967,637
Ensembl chr11:94,935,300...94,967,627
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Itgam |
integrin alpha M |
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IMP |
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RGD |
PMID:19752320 |
RGD:6907051 |
NCBI chr 7:127,661,812...127,717,663
Ensembl chr 7:127,661,812...127,717,663
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Itgb1 |
integrin beta 1 (fibronectin receptor beta) |
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ISO |
protein:decreased expression:glomerulus (rat) |
RGD |
PMID:19662603 |
RGD:2325666 |
NCBI chr 8:129,412,135...129,460,060
Ensembl chr 8:129,412,135...129,459,681
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Itgb2 |
integrin beta 2 |
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IMP |
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RGD |
PMID:19752320 PMID:15277234 |
RGD:6907051, RGD:6907066 |
NCBI chr10:77,366,164...77,401,542
Ensembl chr10:77,366,086...77,401,542
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Itgb3 |
integrin beta 3 |
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ISO |
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RGD |
PMID:11051455 PMID:8083378 |
RGD:6907411, RGD:6907420 |
NCBI chr11:104,498,826...104,561,302
Ensembl chr11:104,498,826...104,561,302
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Jund |
jun D proto-oncogene |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18443593 |
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NCBI chr 8:71,150,389...71,153,265
Ensembl chr 8:71,151,599...71,153,265
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Klkb1 |
kallikrein B, plasma 1 |
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ISO |
protein:increased expression:plasma: |
RGD |
PMID:2173275 |
RGD:7327152 |
NCBI chr 8:45,719,725...45,747,872
Ensembl chr 8:45,719,726...45,747,896
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Lamb2 |
laminin, beta 2 |
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ISO |
ClinVar Annotator: match by term: Glomerulonephritis |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 9:108,357,080...108,367,729
Ensembl chr 9:108,356,935...108,367,729
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Ltbp1 |
latent transforming growth factor beta binding protein 1 |
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ISO |
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RGD |
PMID:16282705 |
RGD:7387262 |
NCBI chr17:75,312,475...75,699,507
Ensembl chr17:75,312,563...75,699,507
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Ltc4s |
leukotriene C4 synthase |
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ISO |
protein:altered activity:kidney, cortex (rat) |
RGD |
PMID:7827126 |
RGD:2316641 |
NCBI chr11:50,127,288...50,129,378
Ensembl chr11:50,127,288...50,129,443
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Mapk1 |
mitogen-activated protein kinase 1 |
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IMP |
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RGD |
PMID:20203158 |
RGD:7243972 |
NCBI chr16:16,801,246...16,865,317
Ensembl chr16:16,801,246...16,865,317
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Mir100 |
microRNA 100 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25758243 |
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NCBI chr 9:41,442,721...41,442,800
Ensembl chr 9:41,442,721...41,442,800
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Mir10b |
microRNA 10b |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25758243 |
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NCBI chr 2:74,556,414...74,556,481
Ensembl chr 2:74,556,414...74,556,481
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Mmp3 |
matrix metallopeptidase 3 |
|
ISO |
|
RGD |
PMID:15034162 PMID:23224597 |
RGD:7241253, RGD:8694105 |
NCBI chr 9:7,445,845...7,455,975
Ensembl chr 9:7,445,822...7,455,975
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G |
Mpo |
myeloperoxidase |
disease_progression |
IMP ISO |
|
RGD |
PMID:17267745 PMID:19238910 |
RGD:7174702, RGD:7174705 |
NCBI chr11:87,684,610...87,695,238
Ensembl chr11:87,684,407...87,695,239
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G |
Ms4a1 |
membrane-spanning 4-domains, subfamily A, member 1 |
|
ISO |
protein:increased expression:kidney, glomerulus (rat) |
RGD |
PMID:7538648 |
RGD:2316995 |
NCBI chr19:11,227,043...11,243,513
Ensembl chr19:11,227,039...11,243,605
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G |
Mthfr |
methylenetetrahydrofolate reductase |
|
ISO |
DNA:transition:cds:g.677C>T (human) |
RGD |
PMID:22111818 |
RGD:6893468 |
NCBI chr 4:148,123,534...148,144,019
Ensembl chr 4:148,123,534...148,144,008
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G |
Myh9 |
myosin, heavy polypeptide 9, non-muscle |
|
ISO |
ClinVar Annotator: match by term: Glomerulonephritis |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr15:77,644,788...77,726,315
Ensembl chr15:77,644,787...77,726,375
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G |
Ngf |
nerve growth factor |
|
ISO |
protein:increased expression:serum CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:24244623 PMID:19169037 |
RGD:7242783 |
NCBI chr 3:102,377,235...102,428,329
Ensembl chr 3:102,377,235...102,428,329
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G |
Nppa |
natriuretic peptide type A |
|
ISO |
associated with Streptococcal Infections;protein:increased expression:plasma |
RGD |
PMID:12654066 |
RGD:7248663 |
NCBI chr 4:148,085,179...148,086,531
Ensembl chr 4:148,085,179...148,086,536
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G |
Parp1 |
poly (ADP-ribose) polymerase family, member 1 |
severity |
IMP |
|
RGD |
PMID:19454727 |
RGD:5684011 |
NCBI chr 1:180,396,456...180,428,564
Ensembl chr 1:180,396,489...180,428,819
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G |
Pdgfb |
platelet derived growth factor, B polypeptide |
treatment |
ISO |
|
RGD |
PMID:11316849 |
RGD:10449490 |
NCBI chr15:79,880,066...79,899,178
Ensembl chr15:79,880,075...79,899,178
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G |
Pdgfd |
platelet-derived growth factor, D polypeptide |
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ISO |
|
RGD |
PMID:21866094 |
RGD:9854633 |
NCBI chr 9:6,168,377...6,534,284
Ensembl chr 9:6,168,584...6,378,850
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G |
Pla2g7 |
phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma) |
|
ISO |
|
RGD |
PMID:8730430 |
RGD:7248794 |
NCBI chr17:43,879,009...43,923,093
Ensembl chr17:43,878,989...43,923,092
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G |
Plce1 |
phospholipase C, epsilon 1 |
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ISO |
ClinVar Annotator: match by term: Glomerulonephritis |
ClinVar |
PMID:25741868 |
|
NCBI chr19:38,469,438...38,773,549
Ensembl chr19:38,469,557...38,773,474
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G |
Pomc |
pro-opiomelanocortin-alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:4368615 PMID:6300362 |
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NCBI chr12:4,004,945...4,010,643
Ensembl chr12:4,004,951...4,010,642
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G |
Pparg |
peroxisome proliferator activated receptor gamma |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:11318962 |
|
NCBI chr 6:115,337,828...115,467,365
Ensembl chr 6:115,337,912...115,467,360
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G |
Prf1 |
perforin 1 (pore forming protein) |
|
ISO |
|
RGD |
PMID:17622272 |
RGD:6482824 |
NCBI chr10:61,133,530...61,140,463
Ensembl chr10:61,133,612...61,140,459
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G |
Ptafr |
platelet-activating factor receptor |
treatment |
ISO |
|
RGD |
PMID:1668710 |
RGD:10041057 |
NCBI chr 4:132,291,378...132,309,994
Ensembl chr 4:132,291,378...132,309,994
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G |
Ptk2b |
PTK2 protein tyrosine kinase 2 beta |
|
ISO |
protein:increased expression:glomerulus |
RGD |
PMID:11774117 |
RGD:729912 |
NCBI chr14:66,390,706...66,518,549
Ensembl chr14:66,390,706...66,518,501
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G |
Scgb1a1 |
secretoglobin, family 1A, member 1 |
|
ISO |
recombinant human SCGB1A1 in "experimental crescentic glomerulonephritis" model (mice) |
RGD |
PMID:18558621 |
RGD:6903251 |
NCBI chr19:9,061,006...9,065,320
Ensembl chr19:9,061,000...9,065,322
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G |
Serpine1 |
serine (or cysteine) peptidase inhibitor, clade E, member 1 |
treatment |
ISO |
|
RGD |
PMID:12897205 |
RGD:13208810 |
NCBI chr 5:137,090,358...137,101,126
Ensembl chr 5:137,090,358...137,101,122
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G |
Smad1 |
SMAD family member 1 |
|
ISO |
protein:increased phosphorylation:glomerulus |
RGD |
PMID:15591053 |
RGD:1643235 |
NCBI chr 8:80,065,024...80,126,057
Ensembl chr 8:80,065,024...80,126,147
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G |
Spp1 |
secreted phosphoprotein 1 |
disease_progression |
ISO |
|
RGD |
PMID:20720406 |
RGD:6903272 |
NCBI chr 5:104,582,977...104,588,919
Ensembl chr 5:104,582,984...104,588,916
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G |
Tbxas1 |
thromboxane A synthase 1, platelet |
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ISO |
|
RGD |
PMID:10560941 |
RGD:1601461 |
NCBI chr 6:38,817,897...39,061,524
Ensembl chr 6:38,852,338...39,061,519
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G |
Tlr2 |
toll-like receptor 2 |
|
IMP |
|
RGD |
PMID:16849506 |
RGD:7241071 |
NCBI chr 3:83,743,579...83,749,045
Ensembl chr 3:83,743,579...83,749,074
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G |
Tlr4 |
toll-like receptor 4 |
|
IMP IDA |
|
RGD |
PMID:20844472 PMID:16849506 |
RGD:4144104, RGD:7241071 |
NCBI chr 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521
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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 chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
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G |
Tnfrsf1a |
tumor necrosis factor receptor superfamily, member 1a |
disease_progression treatment |
ISO |
protein:increased expression:urine |
RGD |
PMID:20525973 PMID:23400706 |
RGD:7245516, RGD:7245540 |
NCBI chr 6:125,326,686...125,339,446
Ensembl chr 6:125,326,325...125,339,447
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G |
Tnfrsf1b |
tumor necrosis factor receptor superfamily, member 1b |
treatment |
IMP ISO |
|
RGD |
PMID:15841213 PMID:22449555 PMID:23400706 |
RGD:7245530, RGD:7245546, RGD:7245540 |
NCBI chr 4:144,938,938...144,973,453
Ensembl chr 4:144,940,033...144,973,440
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G |
Tpo |
thyroid peroxidase |
|
ISO |
|
RGD |
PMID:8393543 |
RGD:7207483 |
NCBI chr12:30,104,658...30,182,983
Ensembl chr12:30,104,658...30,182,623
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G |
Trf |
transferrin |
severity |
ISO |
|
RGD |
PMID:22607047 |
RGD:7244194 |
NCBI chr 9:103,086,075...103,107,485
Ensembl chr 9:103,081,200...103,107,643
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G |
Vcam1 |
vascular cell adhesion molecule 1 |
|
ISO |
protein:increased expression:kidney |
RGD |
PMID:18574676 |
RGD:7241215 |
NCBI chr 3:115,903,669...115,923,337
Ensembl chr 3:115,903,598...115,923,337
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G |
Vegfa |
vascular endothelial growth factor A |
treatment |
ISO |
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RGD |
PMID:15195119 |
RGD:7421594 |
NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295
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G |
Wt1 |
WT1 transcription factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20962747 |
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NCBI chr 2:104,956,874...105,003,959
Ensembl chr 2:104,956,874...105,003,961
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G |
Agt |
angiotensinogen |
|
ISO |
protein:increased expression:kidney, urine mRNA, protein:increased expression:liver, plasma |
RGD |
PMID:21282555 PMID:7550093 |
RGD:5129185, RGD:11039051 |
NCBI chr 8:125,283,326...125,296,445
Ensembl chr 8:125,283,273...125,296,445
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G |
Agtr1a |
angiotensin II receptor, type 1a |
|
ISO |
protein:increased expression:kidney |
RGD |
PMID:21282555 |
RGD:5129185 |
NCBI chr13:30,520,339...30,566,850
Ensembl chr13:30,520,424...30,566,850
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G |
Bax |
BCL2-associated X protein |
|
ISO |
mRNA, protein:increased expression:kidney |
RGD |
PMID:12234300 |
RGD:1579984 |
NCBI chr 7:45,111,124...45,116,332
Ensembl chr 7:45,111,121...45,116,322
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G |
Bcl2 |
B cell leukemia/lymphoma 2 |
|
ISO |
mRNA, protein:decreased expression:kidney |
RGD |
PMID:12234300 |
RGD:1579984 |
NCBI chr 1:106,465,906...106,642,020
Ensembl chr 1:106,465,908...106,642,004
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G |
Ccl17 |
C-C motif chemokine ligand 17 |
|
ISO |
mRNA:increased expression:glomerulus |
RGD |
PMID:20071465 |
RGD:4145614 |
NCBI chr 8:95,535,996...95,538,666
Ensembl chr 8:95,537,081...95,538,664
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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 chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279
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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 8:95,472,312...95,478,016
Ensembl chr 8:95,472,218...95,478,327
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G |
Ccl4 |
C-C motif chemokine ligand 4 |
|
ISO |
mRNA:increased expression:glomerulus |
RGD |
PMID:17898087 |
RGD:2307059 |
NCBI chr11:83,553,410...83,555,509
Ensembl chr11:83,553,410...83,555,509
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G |
Ccl5 |
C-C motif chemokine ligand 5 |
|
ISO |
mRNA:increased expression:glomerulus |
RGD |
PMID:17898087 |
RGD:2307059 |
NCBI chr11:83,416,604...83,421,344
Ensembl chr11:83,416,604...83,421,344
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G |
Cd274 |
CD274 antigen |
treatment |
IMP |
|
RGD |
PMID:21965585 |
RGD:7248671 |
NCBI chr19:29,339,428...29,365,495
Ensembl chr19:29,344,855...29,365,495
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G |
Cd40 |
CD40 antigen |
|
IMP |
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RGD |
PMID:15210767 |
RGD:7248442 |
NCBI chr 2:164,897,535...164,913,574
Ensembl chr 2:164,897,547...164,914,868
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G |
Cd40lg |
CD40 ligand |
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ISO |
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RGD |
PMID:15458437 |
RGD:5508170 |
NCBI chr X:56,257,448...56,269,402
Ensembl chr X:56,257,503...56,269,402
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G |
Cd80 |
CD80 antigen |
|
ISO |
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RGD |
PMID:10712436 |
RGD:6902936 |
NCBI chr16:38,277,793...38,316,682
Ensembl chr16:38,275,923...38,316,697
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G |
Cfb |
complement factor B |
|
IMP |
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RGD |
PMID:22492944 |
RGD:7242700 |
NCBI chr17:35,075,350...35,081,492
Ensembl chr17:35,075,350...35,081,494
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G |
Clu |
clusterin |
|
ISO |
protein:increased expression:urine |
RGD |
PMID:23791361 |
RGD:9068422 |
NCBI chr14:66,206,093...66,218,992
Ensembl chr14:66,205,932...66,218,996
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G |
Csf1 |
colony stimulating factor 1 (macrophage) |
treatment |
ISO |
|
RGD |
PMID:19242505 |
RGD:7257569 |
NCBI chr 3:107,648,364...107,668,048
Ensembl chr 3:107,648,364...107,667,785
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G |
Csf1r |
colony stimulating factor 1 receptor |
treatment ameliorates |
ISO |
|
RGD |
PMID:19242505 PMID:21519331 |
RGD:7257569, RGD:151665824 |
NCBI chr18:61,238,644...61,264,211
Ensembl chr18:61,233,670...61,265,221
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G |
Ctla4 |
cytotoxic T-lymphocyte-associated protein 4 |
treatment |
IMP ISO |
|
RGD |
PMID:10712436 PMID:8206086 PMID:10712436 |
RGD:6902936, RGD:11352257, RGD:6902936 |
NCBI chr 1:60,948,184...60,954,991
Ensembl chr 1:60,926,159...60,954,991
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G |
Cx3cl1 |
C-X3-C motif chemokine ligand 1 |
|
ISO |
mRNA, protein:increased expression:glomerulus |
RGD |
PMID:19590241 |
RGD:4891946 |
NCBI chr 8:95,498,808...95,509,055
Ensembl chr 8:95,498,637...95,509,055
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G |
Cx3cr1 |
C-X3-C motif chemokine receptor 1 |
|
ISO |
mRNA, protein:increased expression:glomerulus |
RGD |
PMID:19590241 |
RGD:4891946 |
NCBI chr 9:119,877,749...119,897,362
Ensembl chr 9:119,877,749...119,898,945
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G |
Cxcl12 |
C-X-C motif chemokine ligand 12 |
|
ISO |
mRNA:increased expression:glomerulus |
RGD |
PMID:17557270 |
RGD:2306579 |
NCBI chr 6:117,145,496...117,158,329
Ensembl chr 6:117,145,496...117,158,328
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G |
Dusp1 |
dual specificity phosphatase 1 |
|
ISO |
mRNA:increased expression:glomerulus |
RGD |
PMID:8587253 |
RGD:633769 |
NCBI chr17:26,724,565...26,727,446
Ensembl chr17:26,724,564...26,781,102
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G |
Fcgr4 |
Fc receptor, IgG, low affinity IV |
no_association |
ISO |
DNA:cnv: : DNA:polymorphism:exon:(rs396991)(human) |
RGD |
PMID:19946017 PMID:19640933 |
RGD:5508400, RGD:5508403 |
NCBI chr 1:170,846,495...170,857,330
Ensembl chr 1:170,846,489...170,857,330
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G |
Gp6 |
glycoprotein 6 platelet |
|
IMP |
|
RGD |
PMID:20651232 |
RGD:7242710 |
NCBI chr 7:4,365,852...4,400,849
Ensembl chr 7:4,366,964...4,400,743
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G |
H2-Eb1 |
histocompatibility 2, class II antigen E beta |
susceptibility |
ISO |
DNA:polymorphism (human) |
RGD |
PMID:21569485 |
RGD:5147561 |
NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648
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G |
Il10 |
interleukin 10 |
treatment |
ISO |
|
RGD |
PMID:23826305 |
RGD:7365004 |
NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711
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G |
Il17a |
interleukin 17A |
treatment |
ISO |
|
RGD |
PMID:23826305 |
RGD:7365004 |
NCBI chr 1:20,801,129...20,804,720
Ensembl chr 1:20,801,129...20,804,720
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G |
Il18 |
interleukin 18 |
|
IMP |
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RGD |
PMID:22046355 |
RGD:6893447 |
NCBI chr 9:50,466,000...50,493,141
Ensembl chr 9:50,466,127...50,493,140
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G |
Il1b |
interleukin 1 beta |
|
IEP ISO |
mRNA:increased expression:kidney (mouse) mRNA, protein:increased expression:kidney |
RGD |
PMID:22046355 PMID:9198037 |
RGD:6893447, RGD:7401232 |
NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059
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G |
Il1rn |
interleukin 1 receptor antagonist |
|
ISO |
|
RGD |
PMID:20071465 |
RGD:4145614 |
NCBI chr 2:24,226,872...24,241,503
Ensembl chr 2:24,226,865...24,241,506
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G |
Il4 |
interleukin 4 |
|
ISO |
|
RGD |
PMID:9350645 PMID:17898087 |
RGD:2317673, RGD:2307059 |
NCBI chr11:53,503,287...53,509,492
Ensembl chr11:53,493,809...53,509,496
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G |
Itga4 |
integrin alpha 4 |
treatment |
ISO |
|
RGD |
PMID:9032136 PMID:7679412 |
RGD:2308810, RGD:9698425 |
NCBI chr 2:79,084,767...79,163,458
Ensembl chr 2:79,085,770...79,163,467
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G |
Mapk14 |
mitogen-activated protein kinase 14 |
|
ISO |
|
RGD |
PMID:21894146 |
RGD:6218988 |
NCBI chr17:28,910,316...28,967,379
Ensembl chr17:28,910,303...28,967,380
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G |
Mapk8 |
mitogen-activated protein kinase 8 |
|
ISO |
|
RGD |
PMID:21894146 |
RGD:6218988 |
NCBI chr14:33,099,855...33,169,213
Ensembl chr14:33,099,855...33,169,115
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G |
Mif |
macrophage migration inhibitory factor (glycosylation-inhibiting factor) |
|
ISO |
|
RGD |
PMID:10780884 |
RGD:1642011 |
NCBI chr10:75,695,187...75,696,111
Ensembl chr10:75,695,187...75,696,074
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G |
Mmp12 |
matrix metallopeptidase 12 |
|
ISO |
|
RGD |
PMID:21894146 |
RGD:6218988 |
NCBI chr 9:7,344,397...7,360,461
Ensembl chr 9:7,344,381...7,369,499
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G |
Mmp14 |
matrix metallopeptidase 14 (membrane-inserted) |
|
ISO |
mRNA:increased expression:kidney, macrophage |
RGD |
PMID:10878552 |
RGD:2314954 |
NCBI chr14:54,669,055...54,679,913
Ensembl chr14:54,669,069...54,682,821
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G |
Nos2 |
nitric oxide synthase 2, inducible |
|
ISO |
|
RGD |
PMID:21894146 |
RGD:6218988 |
NCBI chr11:78,811,613...78,851,052
Ensembl chr11:78,811,613...78,851,080
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G |
Nppb |
natriuretic peptide type B |
|
IDA |
|
RGD |
PMID:11729234 |
RGD:7248605 |
NCBI chr 4:148,070,264...148,071,662
Ensembl chr 4:148,070,245...148,071,662
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G |
Pdcd1 |
programmed cell death 1 |
treatment |
ISO |
|
RGD |
PMID:21965585 |
RGD:7248671 |
NCBI chr 1:93,966,027...93,980,278
Ensembl chr 1:93,966,027...93,980,278
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G |
Pf4 |
platelet factor 4 |
treatment |
ISO |
|
RGD |
PMID:7573480 |
RGD:329901920 |
NCBI chr 5:90,920,362...90,921,242
Ensembl chr 5:90,920,294...90,921,242
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G |
Ppara |
peroxisome proliferator activated receptor alpha |
|
IDA |
|
RGD |
PMID:17888025 |
RGD:5563035 |
NCBI chr15:85,619,112...85,691,052
Ensembl chr15:85,619,184...85,687,020
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G |
Ptk2b |
PTK2 protein tyrosine kinase 2 beta |
|
ISO |
protein:increased expression:glomerulus |
RGD |
PMID:11774117 |
RGD:729912 |
NCBI chr14:66,390,706...66,518,549
Ensembl chr14:66,390,706...66,518,501
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G |
Rapgef1 |
Rap guanine nucleotide exchange factor (GEF) 1 |
|
ISO |
protein:increased expression:renal glomerulus |
RGD |
PMID:18784646 |
RGD:11534983 |
NCBI chr 2:29,509,732...29,630,376
Ensembl chr 2:29,509,732...29,630,990
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G |
Selp |
selectin, platelet |
|
ISO |
|
RGD |
PMID:21894146 |
RGD:6218988 |
NCBI chr 1:163,942,833...163,977,595
Ensembl chr 1:163,942,833...163,977,595
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G |
Slc34a1 |
solute carrier family 34 (sodium phosphate), member 1 |
|
IEP |
protein:decreased expression:kidney, brush border membrane (mouse) |
RGD |
PMID:19193726 |
RGD:7242947 |
NCBI chr13:55,547,435...55,562,508
Ensembl chr13:55,546,000...55,563,405
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G |
Slit2 |
slit guidance ligand 2 |
|
ISO |
mRNA:decreased expression:kidney, glomerulus |
RGD |
PMID:15215188 |
RGD:2316132 |
NCBI chr 5:48,138,633...48,465,077
Ensembl chr 5:48,140,480...48,465,075
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G |
Spp1 |
secreted phosphoprotein 1 |
|
IEP |
|
RGD |
PMID:20504883 |
RGD:6903276 |
NCBI chr 5:104,582,977...104,588,919
Ensembl chr 5:104,582,984...104,588,916
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G |
Syk |
spleen tyrosine kinase |
|
ISO |
|
RGD |
PMID:21894146 |
RGD:6218988 |
NCBI chr13:52,736,670...52,802,828
Ensembl chr13:52,737,209...52,802,828
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G |
Tnf |
tumor necrosis factor |
|
ISO |
|
RGD |
PMID:21894146 |
RGD:6218988 |
NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
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G |
Vcam1 |
vascular cell adhesion molecule 1 |
|
IEP |
protein:increased expression:urine, serum: |
RGD |
PMID:23460853 |
RGD:7241232 |
NCBI chr 3:115,903,669...115,923,337
Ensembl chr 3:115,903,598...115,923,337
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G |
Xcl1 |
chemokine (C motif) ligand 1 |
|
ISO |
mRNA:increased expression:glomerulus |
RGD |
PMID:9717977 |
RGD:8693304 |
NCBI chr 1:164,759,216...164,763,094
Ensembl chr 1:164,759,213...164,763,096
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G |
C1qa |
complement component 1, q subcomponent, alpha polypeptide |
|
ISO |
ClinVar Annotator: match by term: C1Q deficiency |
ClinVar |
PMID:7594474 PMID:8840296 PMID:9225968 PMID:9590289 PMID:21654842 PMID:22472776 PMID:25741868 PMID:26563161 PMID:28492532 PMID:29739689 PMID:30008451 More...
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NCBI chr 4:136,623,227...136,626,155
Ensembl chr 4:136,623,228...136,626,114
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G |
C1qb |
complement component 1, q subcomponent, beta polypeptide |
|
ISO |
ClinVar Annotator: match by term: C1Q deficiency |
ClinVar |
PMID:17513176 PMID:21654842 PMID:25741868 PMID:28492532 |
|
NCBI chr 4:136,607,437...136,613,511
Ensembl chr 4:136,607,440...136,613,498
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G |
C1qc |
complement component 1, q subcomponent, C chain |
|
ISO |
ClinVar Annotator: match by term: C1Q deficiency |
ClinVar |
PMID:7029321 PMID:7900940 PMID:8630118 PMID:20635792 PMID:21654842 PMID:24157463 PMID:25741868 PMID:28082982 PMID:28492532 PMID:30008451 PMID:31357913 More...
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NCBI chr 4:136,617,115...136,620,225
Ensembl chr 4:136,617,115...136,620,376
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G |
C1qa |
complement component 1, q subcomponent, alpha polypeptide |
|
ISO |
ClinVar Annotator: match by term: C1Q deficiency 1 | ClinVar Annotator: match by term: C1QA-related condition |
OMIM ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 4:136,623,227...136,626,155
Ensembl chr 4:136,623,228...136,626,114
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G |
C1qb |
complement component 1, q subcomponent, beta polypeptide |
|
ISO |
ClinVar Annotator: match by term: C1Q deficiency 2 | ClinVar Annotator: match by term: C1QB-related condition |
OMIM ClinVar |
PMID:2894352 PMID:24160257 PMID:25741868 PMID:28492532 |
|
NCBI chr 4:136,607,437...136,613,511
Ensembl chr 4:136,607,440...136,613,498
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G |
C1qc |
complement component 1, q subcomponent, C chain |
|
ISO |
ClinVar Annotator: match by term: C1Q deficiency 3 | ClinVar Annotator: match by term: C1QC-related condition |
OMIM ClinVar |
PMID:7029321 PMID:8630118 PMID:24157463 PMID:28492532 |
|
NCBI chr 4:136,617,115...136,620,225
Ensembl chr 4:136,617,115...136,620,376
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G |
Cfh |
complement component factor h |
|
ISO |
ClinVar Annotator: match by term: C3 GLOMERULOPATHY 3 | ClinVar Annotator: match by term: CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II |
ClinVar |
PMID:8072530 PMID:9536098 PMID:11158219 PMID:11170895 PMID:11978762 PMID:12424708 PMID:12697737 PMID:15761120 PMID:15870199 PMID:16299065 PMID:16338962 PMID:16601698 PMID:16619239 PMID:17018561 PMID:17576681 PMID:17599974 PMID:17947292 PMID:18235085 PMID:18252712 PMID:18557729 PMID:19190809 PMID:19259132 PMID:19297022 PMID:19454698 PMID:19633317 PMID:20016463 PMID:20059470 PMID:20203157 PMID:21317894 PMID:21415311 PMID:21909106 PMID:22019782 PMID:22171659 PMID:22223606 PMID:22389686 PMID:22403278 PMID:22410797 PMID:22456601 PMID:23431077 PMID:23685748 PMID:23852337 PMID:24036949 PMID:24036952 PMID:24498017 PMID:25037630 PMID:25087612 PMID:25741868 PMID:25814826 PMID:25880396 PMID:26215151 PMID:26376859 PMID:26501415 PMID:26559391 PMID:26691988 PMID:26826462 PMID:27718086 PMID:28011711 PMID:28492532 PMID:28859202 PMID:28941939 PMID:29410599 PMID:29500241 PMID:29888403 PMID:30560448 PMID:30674459 PMID:31447099 PMID:31575699 PMID:31589614 PMID:33519811 PMID:34169201 PMID:34189567 PMID:34260947 PMID:34508573 PMID:34748552 PMID:35925583 PMID:36246952 PMID:36445700 More...
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NCBI chr 1:140,013,593...140,111,149
Ensembl chr 1:140,012,446...140,111,502
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G |
Cx3cl1 |
C-X3-C motif chemokine ligand 1 |
|
ISO |
|
RGD |
PMID:12028445 |
RGD:9491783 |
NCBI chr 8:95,498,808...95,509,055
Ensembl chr 8:95,498,637...95,509,055
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G |
Cx3cr1 |
C-X3-C motif chemokine receptor 1 |
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ISO |
|
RGD |
PMID:12028445 |
RGD:9491783 |
NCBI chr 9:119,877,749...119,897,362
Ensembl chr 9:119,877,749...119,898,945
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G |
Ccl2 |
C-C motif chemokine ligand 2 |
treatment |
ISO |
|
RGD |
PMID:8903512 PMID:17314328 |
RGD:8549743, RGD:8549770 |
NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279
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G |
Ccl3 |
C-C motif chemokine ligand 3 |
|
ISO |
associated with Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis |
RGD |
PMID:18846416 PMID:17898087 |
RGD:7241813, RGD:2307059 |
NCBI chr11:83,538,669...83,540,204
Ensembl chr11:83,538,670...83,540,181
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G |
Cd40 |
CD40 antigen |
|
IMP |
|
RGD |
PMID:14569091 |
RGD:7248599 |
NCBI chr 2:164,897,535...164,913,574
Ensembl chr 2:164,897,547...164,914,868
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G |
Cd40lg |
CD40 ligand |
treatment |
IMP |
|
RGD |
PMID:14569091 |
RGD:7248599 |
NCBI chr X:56,257,448...56,269,402
Ensembl chr X:56,257,503...56,269,402
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G |
Csf1r |
colony stimulating factor 1 receptor |
treatment |
ISO |
|
RGD |
PMID:23408165 |
RGD:151665815 |
NCBI chr18:61,238,644...61,264,211
Ensembl chr18:61,233,670...61,265,221
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G |
Fcgr3 |
Fc receptor, IgG, low affinity III |
|
ISO |
DNA:CNV:3'UTR: |
RGD |
PMID:16482158 |
RGD:2293335 |
NCBI chr 1:170,878,738...170,893,477
Ensembl chr 1:170,878,743...170,892,504
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G |
Il1b |
interleukin 1 beta |
|
ISO |
|
RGD |
PMID:19959716 |
RGD:7175502 |
NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059
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G |
Il1rn |
interleukin 1 receptor antagonist |
treatment |
ISO |
human protein in a rat model |
RGD |
PMID:7637259 |
RGD:8551712 |
NCBI chr 2:24,226,872...24,241,503
Ensembl chr 2:24,226,865...24,241,506
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G |
Jund |
jun D proto-oncogene |
|
ISO |
|
RGD |
PMID:18443593 |
RGD:2293336 |
NCBI chr 8:71,150,389...71,153,265
Ensembl chr 8:71,151,599...71,153,265
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G |
Mmp12 |
matrix metallopeptidase 12 |
|
ISO |
|
RGD |
PMID:20488952 PMID:12626598 |
RGD:2325762, RGD:737630 |
NCBI chr 9:7,344,397...7,360,461
Ensembl chr 9:7,344,381...7,369,499
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G |
Mmp3 |
matrix metallopeptidase 3 |
|
ISO |
|
RGD |
PMID:11095647 |
RGD:7241255 |
NCBI chr 9:7,445,845...7,455,975
Ensembl chr 9:7,445,822...7,455,975
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G |
Mmp9 |
matrix metallopeptidase 9 |
|
ISO |
protein:increased expression:renal cortex (rat) |
RGD |
PMID:16046515 |
RGD:2313720 |
NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770
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G |
Mtor |
mechanistic target of rapamycin kinase |
|
ISO |
|
RGD |
PMID:21403644 |
RGD:7245940 |
NCBI chr 4:148,533,039...148,642,142
Ensembl chr 4:148,533,068...148,642,140
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G |
Stat6 |
signal transducer and activator of transcription 6 |
|
IMP |
|
RGD |
PMID:21985369 |
RGD:7243976 |
NCBI chr10:127,478,855...127,496,856
Ensembl chr10:127,478,855...127,496,826
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G |
Tlr9 |
toll-like receptor 9 |
severity |
IMP |
|
RGD |
PMID:20847283 |
RGD:7246899 |
NCBI chr 9:106,099,797...106,104,075
Ensembl chr 9:106,099,797...106,104,082
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G |
Ace2 |
angiotensin converting enzyme 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16723697 |
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NCBI chr X:162,922,338...162,971,414
Ensembl chr X:162,922,328...162,971,416
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G |
Acta2 |
actin alpha 2, smooth muscle, aorta |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20493835 |
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NCBI chr19:34,217,736...34,232,985
Ensembl chr19:34,218,490...34,232,990
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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 CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:16251236 PMID:18594871 PMID:19142020 PMID:19956976 PMID:21680739 PMID:22732337 PMID:23890478 PMID:24130771 PMID:25741868 PMID:26248470 PMID:26346198 PMID:26467025 PMID:27535533 PMID:28492532 PMID:29869118 PMID:31027891 PMID:31930129 PMID:10700177 More...
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RGD:1598731 |
NCBI chr 7:28,592,673...28,661,799
Ensembl chr 7:28,592,673...28,661,765
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G |
Actr3 |
ARP3 actin-related protein 3 |
|
ISO |
DNA:missense mutation:cds:p.L111F (rat) protein:increased expression:renal glomerulus (rat) |
RGD |
PMID:18064521 PMID:27251563 |
RGD:2292230, RGD:11575049 |
NCBI chr 1:125,320,642...125,363,464
Ensembl chr 1:125,320,642...125,363,464
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G |
Agt |
angiotensinogen |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:19858406 PMID:21357516 |
RGD:5129175 |
NCBI chr 8:125,283,326...125,296,445
Ensembl chr 8:125,283,273...125,296,445
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G |
Agtr1a |
angiotensin II receptor, type 1a |
|
ISO |
protein:increased expression:kidney cortex |
RGD |
PMID:21357516 |
RGD:5129175 |
NCBI chr13:30,520,339...30,566,850
Ensembl chr13:30,520,424...30,566,850
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G |
Agtr2 |
angiotensin II receptor, type 2 |
|
ISO |
protein:increased expression:kidney cortex |
RGD |
PMID:21357516 |
RGD:5129175 |
NCBI chr X:21,350,863...21,355,072
Ensembl chr X:21,350,783...21,355,403
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G |
Angpt2 |
angiopoietin 2 |
|
ISO |
mRNA, protein:increased expression:glomerulus (rat) |
RGD |
PMID:16628643 |
RGD:2314213 |
NCBI chr 8:18,740,279...18,791,578
Ensembl chr 8:18,740,279...18,791,578
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G |
Anln |
anillin, actin binding protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 9:22,243,305...22,302,132
Ensembl chr 9:22,243,308...22,300,484
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G |
Arhgap24 |
Rho GTPase activating protein 24 |
|
ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis |
ClinVar |
|
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NCBI chr 5:102,355,043...103,053,743
Ensembl chr 5:102,629,257...103,045,803
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G |
Axdnd1 |
axonemal dynein light chain domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal |
ClinVar |
PMID:8589695 PMID:10742096 PMID:11805166 PMID:15253708 PMID:15327385 PMID:18823551 PMID:19406966 PMID:20947785 PMID:21355056 PMID:24509478 PMID:24742477 PMID:25741868 PMID:28492532 PMID:30655312 PMID:32581362 More...
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NCBI chr 1:156,157,985...156,248,743
Ensembl chr 1:156,151,079...156,248,729
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G |
Bdkrb1 |
bradykinin receptor, beta 1 |
|
IMP |
|
RGD |
PMID:21412216 |
RGD:7175321 |
NCBI chr12:105,570,350...105,571,770
Ensembl chr12:105,569,344...105,571,687
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G |
C2 |
complement C2 |
|
ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis |
ClinVar |
PMID:2249879 PMID:6308626 PMID:8181962 PMID:16518403 PMID:16936732 PMID:18806293 PMID:21541267 PMID:24033266 PMID:25741868 PMID:28492532 More...
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NCBI chr17:35,081,578...35,101,076
Ensembl chr17:35,081,580...35,117,241
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G |
C3 |
complement component 3 |
|
ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis |
ClinVar |
PMID:1976733 PMID:7870343 PMID:16687714 PMID:17634448 PMID:17767156 PMID:18325906 PMID:19168221 PMID:19259132 PMID:20664795 PMID:21576320 PMID:22718507 PMID:23112567 PMID:23455636 PMID:25741868 PMID:28492532 More...
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NCBI chr17:57,510,967...57,535,136
Ensembl chr17:57,510,970...57,535,136
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G |
Casp9 |
caspase 9 |
treatment |
ISO |
|
RGD |
PMID:28245472 |
RGD:13782344 |
NCBI chr 4:141,520,923...141,543,289
Ensembl chr 4:141,520,923...141,543,287
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G |
Cat |
catalase |
|
IMP |
|
RGD |
PMID:22443450 |
RGD:7205647 |
NCBI chr 2:103,284,249...103,315,498
Ensembl chr 2:103,284,194...103,315,505
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G |
Ccl11 |
C-C motif chemokine ligand 11 |
treatment |
IDA |
|
RGD |
PMID:22427838 |
RGD:7247740 |
NCBI chr11:81,948,658...81,953,781
Ensembl chr11:81,948,649...81,953,781
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G |
Ccl3 |
C-C motif chemokine ligand 3 |
|
ISO |
|
RGD |
PMID:17684420 |
RGD:7241818 |
NCBI chr11:83,538,669...83,540,204
Ensembl chr11:83,538,670...83,540,181
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G |
Ccn2 |
cellular communication network factor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17121042 |
|
NCBI chr10:24,471,340...24,474,581
Ensembl chr10:24,471,340...24,474,581
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G |
Cd2ap |
CD2-associated protein |
|
ISO |
FSGS3, OMIM:607832, DNA:splice-site mutaton ClinVar Annotator: match by term: Focal segmental glomerulosclerosis CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:25741868 PMID:28492532 PMID:12764198 |
RGD:1600628 |
NCBI chr17:43,059,857...43,187,593
Ensembl chr17:43,103,842...43,187,556
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G |
Cfb |
complement factor B |
|
IMP ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis |
ClinVar RGD |
PMID:2249879 PMID:6308626 PMID:8181962 PMID:16518403 PMID:16936732 PMID:18806293 PMID:21541267 PMID:24033266 PMID:25741868 PMID:28492532 PMID:17522263 More...
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RGD:7242704 |
NCBI chr17:35,075,350...35,081,492
Ensembl chr17:35,075,350...35,081,494
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G |
Cfh |
complement component factor h |
|
ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis |
ClinVar |
PMID:8072530 PMID:15870199 PMID:16299065 PMID:17089378 PMID:17947292 PMID:18252712 PMID:19259132 PMID:21909106 PMID:25741868 PMID:28492532 PMID:34189567 PMID:35925583 More...
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NCBI chr 1:140,013,593...140,111,149
Ensembl chr 1:140,012,446...140,111,502
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G |
Cfi |
complement component factor i |
|
ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis |
ClinVar |
PMID:18825487 PMID:25741868 PMID:28492532 |
|
NCBI chr 3:129,630,432...129,668,978
Ensembl chr 3:129,629,533...129,668,981
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G |
Cmas |
cytidine monophospho-N-acetylneuraminic acid synthetase |
|
IAGP |
|
MouseDO |
|
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NCBI chr 6:142,702,468...142,721,440
Ensembl chr 6:142,702,412...142,721,440
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G |
Col4a1 |
collagen, type IV, alpha 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16191423 PMID:18682491 |
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NCBI chr 8:11,248,423...11,362,889
Ensembl chr 8:11,248,423...11,362,826
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G |
Col4a3 |
collagen, type IV, alpha 3 |
|
ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis |
ClinVar |
PMID:14871398 PMID:17216251 PMID:18385178 PMID:24033266 PMID:24854265 PMID:25741868 PMID:26346198 PMID:26467025 PMID:28492532 PMID:29924831 PMID:30245029 More...
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NCBI chr 1:82,564,647...82,699,778
Ensembl chr 1:82,564,642...82,699,780
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G |
Col4a4 |
collagen, type IV, alpha 4 |
|
ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis |
ClinVar |
PMID:12028435 PMID:15618242 PMID:17396119 PMID:19129241 PMID:20029656 PMID:21196518 PMID:24033266 PMID:24052634 PMID:24522496 PMID:24854265 PMID:25307543 PMID:25514610 PMID:25741868 PMID:26467025 PMID:26809805 PMID:27281700 PMID:28492532 PMID:31049720 PMID:31922066 More...
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NCBI chr 1:82,426,140...82,564,570
Ensembl chr 1:82,426,144...82,564,570
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G |
Col4a5 |
collagen, type IV, alpha 5 |
|
ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis |
ClinVar |
PMID:8648925 PMID:9195222 PMID:10561141 PMID:10752524 PMID:14514738 PMID:14993485 PMID:15780079 PMID:21505094 PMID:24033266 PMID:24854265 PMID:25741868 PMID:26809805 PMID:27281700 PMID:28492532 PMID:28844315 More...
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NCBI chr X:140,258,367...140,472,232
Ensembl chr X:140,258,381...140,472,230
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G |
Coq2 |
coenzyme Q2 4-hydroxybenzoate polyprenyltransferase |
|
ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
|
NCBI chr 5:100,802,589...100,822,154
Ensembl chr 5:100,802,589...100,823,006
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G |
Coq8b |
coenzyme Q8B |
|
ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis |
ClinVar |
PMID:25741868 PMID:32543055 |
|
NCBI chr 7:26,928,112...26,957,374
Ensembl chr 7:26,932,448...26,957,375
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G |
Crb2 |
crumbs family member 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
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NCBI chr 2:37,666,238...37,689,115
Ensembl chr 2:37,666,261...37,689,115
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G |
Cubn |
cubilin |
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ISO |
ClinVar Annotator: match by term: Glomerulosclerosis, focal |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 2:13,281,149...13,496,687
Ensembl chr 2:13,281,149...13,496,624
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G |
Edn1 |
endothelin 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16191423 |
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NCBI chr13:42,454,952...42,461,466
Ensembl chr13:42,454,952...42,461,466
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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 chr 1:14,239,177...14,381,259
Ensembl chr 1:14,239,178...14,380,459
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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 chr 1:71,624,632...71,692,439
Ensembl chr 1:71,624,679...71,692,359
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G |
Gnaq |
guanine nucleotide binding protein, alpha q polypeptide |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16267159 |
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NCBI chr19:16,110,048...16,365,884
Ensembl chr19:16,110,195...16,364,827
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G |
Havcr1 |
hepatitis A virus cellular receptor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19225054 |
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NCBI chr11:46,630,644...46,670,405
Ensembl chr11:46,625,907...46,670,405
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G |
Hr |
lysine demethylase and nuclear receptor corepressor |
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ISO |
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RGD |
PMID:21325752 |
RGD:150520024 |
NCBI chr14:70,789,644...70,810,988
Ensembl chr14:70,789,652...70,810,988
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G |
Hspb1 |
heat shock protein 1 |
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ISO |
protein:increased expression:glomerulus, podocyte: |
RGD |
PMID:21931298 |
RGD:10402764 |
NCBI chr 5:135,916,773...135,918,417
Ensembl chr 5:135,916,773...135,918,417
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G |
Il1b |
interleukin 1 beta |
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IDA |
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RGD |
PMID:21412216 |
RGD:7175321 |
NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059
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G |
Inf2 |
inverted formin, FH2 and WH2 domain containing |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal |
CTD ClinVar |
PMID:20023659 PMID:21866090 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30655312 PMID:32451589 More...
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NCBI chr12:112,555,121...112,581,991
Ensembl chr12:112,555,218...112,581,991
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G |
Itgb3 |
integrin beta 3 |
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IGI |
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RGD |
PMID:21804539 |
RGD:6907385 |
NCBI chr11:104,498,826...104,561,302
Ensembl chr11:104,498,826...104,561,302
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G |
Itgb4 |
integrin beta 4 |
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ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis |
ClinVar |
PMID:25741868 |
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NCBI chr11:115,865,556...115,899,238
Ensembl chr11:115,865,535...115,899,238
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G |
Kirrel2 |
kirre like nephrin family adhesion molecule 2 |
|
ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal |
ClinVar |
PMID:19406966 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr 7:30,146,955...30,160,105
Ensembl chr 7:30,146,959...30,157,115
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G |
Lamb2 |
laminin, 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 chr 9:108,357,080...108,367,729
Ensembl chr 9:108,356,935...108,367,729
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G |
Lipc |
lipase, hepatic |
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ISO |
protein:reduced expression:serum (rat) |
RGD |
PMID:14531811 |
RGD:2308781 |
NCBI chr 9:70,705,410...70,859,503
Ensembl chr 9:70,705,410...70,859,508
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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 2:33,450,977...33,531,219
Ensembl chr 2:33,450,977...33,530,620
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G |
LOC107983946 |
Wt1 promoter region |
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ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis |
ClinVar |
PMID:18559874 PMID:18591546 PMID:19171881 PMID:19221039 PMID:19494353 PMID:19536888 PMID:20368469 PMID:20413658 PMID:20435628 PMID:25110071 PMID:25741868 PMID:25932436 PMID:26725263 PMID:28492532 More...
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NCBI chr 2:104,956,361...104,957,127
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G |
Lpl |
lipoprotein lipase |
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ISO |
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RGD |
PMID:14531811 |
RGD:2308781 |
NCBI chr 8:69,333,207...69,359,584
Ensembl chr 8:69,333,143...69,360,100
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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 5:45,677,571...45,686,626
Ensembl chr 5:45,677,571...45,686,618
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G |
Mir193a |
microRNA 193a |
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IAGP |
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MouseDO |
|
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NCBI chr11:79,602,795...79,602,860
Ensembl chr11:79,602,795...79,602,860
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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 8:93,553,920...93,580,049
Ensembl chr 8:93,553,919...93,580,048
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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 chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770
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G |
Mpv17 |
MpV17 mitochondrial inner membrane protein |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18818194 |
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NCBI chr 5:31,298,007...31,311,595
Ensembl chr 5:31,297,998...31,311,595
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G |
mt-Ty |
tRNA tyrosine, mitochondrial |
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ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis and dilated cardiomyopathy |
ClinVar |
PMID:14598342 PMID:31965079 |
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NCBI chr MT:5,260...5,326
Ensembl chr MT:5,260...5,326
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G |
Myh10 |
myosin, heavy polypeptide 10, non-muscle |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9678433 |
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NCBI chr11:68,581,228...68,707,451
Ensembl chr11:68,582,385...68,707,458
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G |
Myh9 |
myosin, heavy polypeptide 9, non-muscle |
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IMP ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:18794856 PMID:19557653 PMID:23144074 PMID:24033266 PMID:25741868 PMID:26346198 PMID:26467025 PMID:26969326 PMID:27068579 PMID:28492532 PMID:21402784 More...
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RGD:6903254 |
NCBI chr15:77,644,788...77,726,315
Ensembl chr15:77,644,787...77,726,375
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G |
Myo1e |
myosin IE |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 9:70,114,632...70,307,349
Ensembl chr 9:70,114,632...70,307,048
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G |
Myo9a |
myosin IXa |
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IAGP ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal |
MouseDO ClinVar |
PMID:25741868 PMID:33412162 |
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NCBI chr 9:59,658,128...59,836,149
Ensembl chr 9:59,658,179...59,836,149
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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 chr11:59,432,395...59,457,781
Ensembl chr11:59,432,394...59,457,782
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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 chr19:38,776,565...38,808,754
Ensembl chr19:38,776,572...38,807,681
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G |
Nos2 |
nitric oxide synthase 2, inducible |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16191423 |
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NCBI chr11:78,811,613...78,851,052
Ensembl chr11:78,811,613...78,851,080
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G |
Nphp1 |
nephronophthisis 1 (juvenile) homolog (human) |
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ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 2:127,582,652...127,630,833
Ensembl chr 2:127,582,652...127,630,817
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G |
Nphp3 |
nephronophthisis 3 (adolescent) |
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ISO |
ClinVar Annotator: match by term: Glomerulosclerosis, focal |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 9:103,879,743...103,921,010
Ensembl chr 9:103,879,743...103,921,017
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G |
Nphp4 |
nephronophthisis 4 (juvenile) homolog (human) |
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ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 4:152,561,163...152,647,641
Ensembl chr 4:152,561,163...152,647,640
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G |
Nphs1 |
nephrosis 1, nephrin |
disease_progression |
ISO |
mRNA:increased expression:urine (human) protein:decreased expression:kidney,renal glomerulus (human) |
RGD |
PMID:21414970 PMID:30900988 |
RGD:38549367, RGD:15023481 |
NCBI chr 7:30,157,259...30,188,048
Ensembl chr 7:30,157,740...30,186,648
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G |
Nphs2 |
nephrosis 2, podocin |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal |
CTD ClinVar |
PMID:1523708 PMID:8589695 PMID:10742096 PMID:11805166 PMID:11805168 PMID:11854170 PMID:12446471 PMID:12464671 PMID:12644922 PMID:12707396 PMID:12776285 PMID:14570703 PMID:14675423 PMID:14701729 PMID:14978175 PMID:15042551 PMID:15253708 PMID:15264208 PMID:15327385 PMID:15496146 PMID:15769810 PMID:15942677 PMID:15954915 PMID:15968559 PMID:16286890 PMID:16291839 PMID:16481888 PMID:16810518 PMID:16900088 PMID:17109732 PMID:17371932 PMID:17899208 PMID:17942957 PMID:18216321 PMID:18499321 PMID:18683072 PMID:18823551 PMID:19145239 PMID:19268410 PMID:19406966 PMID:19520069 PMID:19812541 PMID:20333530 PMID:20798252 PMID:20947785 PMID:21355056 PMID:21415313 PMID:21636722 PMID:21722858 PMID:22228437 PMID:22578956 PMID:23242530 PMID:23349334 PMID:23515051 PMID:23595123 PMID:23645318 PMID:23800802 PMID:24072147 PMID:24227627 PMID:24509478 PMID:24715228 PMID:24742477 PMID:24969201 PMID:25349199 PMID:25525159 PMID:25599733 PMID:25741868 PMID:26138234 PMID:26211502 PMID:26413278 PMID:26420286 PMID:26467025 PMID:26467726 PMID:27885584 PMID:28492532 PMID:28529802 PMID:28658201 PMID:28712774 PMID:28780565 PMID:29869118 PMID:30241959 PMID:30260545 PMID:30348286 PMID:30655312 PMID:31027891 PMID:31738409 PMID:32129207 PMID:32467597 PMID:32581362 PMID:33193607 PMID:33532864 PMID:34405919 PMID:34853150 More...
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NCBI chr 1:156,138,105...156,155,605
Ensembl chr 1:156,138,297...156,155,605
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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 8:94,941,203...95,043,858
Ensembl chr 8:94,941,192...95,043,855
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G |
Nxf2 |
nuclear RNA export factor 2 |
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ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis |
ClinVar |
PMID:23686279 |
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NCBI chr X:133,845,275...133,865,503
Ensembl chr X:133,845,275...133,865,503
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G |
Pax2 |
paired box 2 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal |
CTD ClinVar |
PMID:3377002 PMID:8589702 PMID:9106533 PMID:11093271 PMID:11241473 PMID:11461952 PMID:22213154 PMID:22350371 PMID:24429398 PMID:24676634 PMID:25741868 PMID:27226968 PMID:28492532 PMID:31001663 PMID:32203253 PMID:33532864 PMID:34696790 PMID:35444690 More...
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NCBI chr19:44,735,040...44,826,708
Ensembl chr19:44,735,057...44,826,310
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G |
Pcna |
proliferating cell nuclear antigen |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17121042 |
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NCBI chr 2:132,091,206...132,095,100
Ensembl chr 2:132,091,082...132,095,234
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G |
Pdss2 |
prenyl (solanesyl) 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 chr10:43,095,396...43,340,878
Ensembl chr10:43,097,482...43,340,878
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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 chr 9:62,785,648...62,888,161
Ensembl chr 9:62,785,650...62,895,206
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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 chr19:38,469,438...38,773,549
Ensembl chr19:38,469,557...38,773,474
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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 chr16:8,455,467...8,475,472
Ensembl chr16:8,455,538...8,480,331
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G |
Ppp3ca |
protein phosphatase 3, catalytic subunit, alpha isoform |
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ISO |
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RGD |
PMID:26436650 |
RGD:13515117 |
NCBI chr 3:136,375,778...136,643,488
Ensembl chr 3:136,375,885...136,643,488
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G |
Ppp3cb |
protein phosphatase 3, catalytic subunit, beta isoform |
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ISO |
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RGD |
PMID:26436650 |
RGD:13515117 |
NCBI chr14:20,549,432...20,596,641
Ensembl chr14:20,549,432...20,596,641
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G |
Psap |
prosaposin |
|
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 chr10:60,113,436...60,138,379
Ensembl chr10:60,113,449...60,138,376
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G |
Rap1gap |
Rap1 GTPase-activating protein |
|
ISO |
mRNA:increased expression:renal glomerulus (human) |
RGD |
PMID:24642466 |
RGD:9835343 |
NCBI chr 4:137,391,549...137,457,172
Ensembl chr 4:137,392,037...137,457,172
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G |
Reg1 |
regenerating islet-derived 1 |
|
ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis |
ClinVar |
PMID:25741868 |
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NCBI chr 6:78,402,966...78,405,651
Ensembl chr 6:78,399,694...78,405,650
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G |
Ren2 |
renin 2 tandem duplication of Ren1 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27428043 |
|
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G |
Rpgrip1l |
Rpgrip1-like |
|
ISO |
ClinVar Annotator: match by term: Glomerulosclerosis, focal |
ClinVar |
PMID:19430481 PMID:20301500 PMID:25741868 PMID:28492532 |
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NCBI chr 8:91,943,658...92,039,919
Ensembl chr 8:91,943,658...92,039,890
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G |
Scarb2 |
scavenger receptor class B, member 2 |
|
ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal |
ClinVar |
PMID:25088547 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr 5:92,589,170...92,653,516
Ensembl chr 5:92,589,173...92,654,692
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G |
Sdccag8 |
serologically defined colon cancer antigen 8 |
|
ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal |
ClinVar |
PMID:25741868 |
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NCBI chr 1:176,642,226...176,848,004
Ensembl chr 1:176,642,226...176,848,003
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G |
Serpine1 |
serine (or cysteine) peptidase inhibitor, clade E, member 1 |
treatment |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:18682491 PMID:22303720 |
RGD:13208548 |
NCBI chr 5:137,090,358...137,101,126
Ensembl chr 5:137,090,358...137,101,122
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G |
Shh |
sonic hedgehog |
|
ISO |
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RGD |
PMID:24744439 |
RGD:12859042 |
NCBI chr 5:28,661,838...28,672,099
Ensembl chr 5:28,661,813...28,672,254
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G |
Slc17a5 |
solute carrier family 17 (anion/sugar transporter), member 5 |
|
ISO |
ClinVar Annotator: match by term: Glomerulosclerosis, focal |
ClinVar |
PMID:25741868 PMID:28492532 PMID:29140481 |
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NCBI chr 9:78,443,769...78,495,346
Ensembl chr 9:78,443,770...78,495,323
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G |
Smarcal1 |
SNF2 related chromatin remodeling ATPase like 1 |
|
ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal |
ClinVar |
PMID:11799392 PMID:15880370 PMID:16840568 PMID:17089404 PMID:18805831 PMID:19127206 PMID:20301550 PMID:21914180 PMID:22998683 PMID:24589093 PMID:25741868 PMID:26499378 PMID:28492532 PMID:28796785 PMID:29127259 PMID:30784191 More...
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|
NCBI chr 1:72,575,593...72,675,949
Ensembl chr 1:72,622,410...72,672,293
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G |
Spp1 |
secreted phosphoprotein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9294829 |
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NCBI chr 5:104,582,977...104,588,919
Ensembl chr 5:104,582,984...104,588,916
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G |
Srgap1 |
SLIT-ROBO Rho GTPase activating protein 1 |
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IAGP |
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MouseDO |
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NCBI chr10:121,616,896...121,883,740
Ensembl chr10:121,616,896...121,883,220
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G |
Tgfb1 |
transforming growth factor, beta 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16191423 PMID:18682491 PMID:20493835 |
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NCBI chr 7:25,386,406...25,404,503
Ensembl chr 7:25,386,427...25,404,502
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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 chr12:87,068,114...87,138,598
Ensembl chr12:87,068,114...87,136,817
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G |
Tnf |
tumor necrosis factor |
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IEP |
protein:increased expression:serum |
RGD |
PMID:21221075 |
RGD:7245511 |
NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
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G |
Tnfaip2 |
tumor necrosis factor, alpha-induced protein 2 |
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IAGP |
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MouseDO |
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NCBI chr12:111,408,898...111,421,452
Ensembl chr12:111,408,903...111,421,452
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G |
Tnfrsf1a |
tumor necrosis factor receptor superfamily, member 1a |
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IEP |
protein:increased expression:serum |
RGD |
PMID:21221075 |
RGD:7245511 |
NCBI chr 6:125,326,686...125,339,446
Ensembl chr 6:125,326,325...125,339,447
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G |
Tnfrsf1b |
tumor necrosis factor receptor superfamily, member 1b |
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IEP |
protein:increased expression:serum |
RGD |
PMID:21221075 |
RGD:7245511 |
NCBI chr 4:144,938,938...144,973,453
Ensembl chr 4:144,940,033...144,973,440
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G |
Trpc6 |
transient receptor potential cation channel, subfamily C, member 6 |
treatment |
ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal CTD Direct Evidence: marker/mechanism DNA:missense mutation:exon:p.P112Q (human) DNA:nonsense mutation, missense mutations: :multiple DNA:SNP:exon:p.P15S (human) |
ClinVar CTD RGD |
PMID:19936226 PMID:22980509 PMID:25019165 PMID:25741868 PMID:26467025 PMID:26892346 PMID:28492532 PMID:32581362 PMID:23385000 PMID:15879175 PMID:15924139 PMID:21839714 PMID:22980509 More...
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RGD:7247440, RGD:7247581, RGD:7247580, RGD:7247445, RGD:7247444 |
NCBI chr 9:8,543,868...8,680,753
Ensembl chr 9:8,544,143...8,680,742
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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 chr19:27,190,070...27,231,631
Ensembl chr19:27,193,884...27,231,631
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G |
Vwf |
Von Willebrand factor |
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ISO |
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RGD |
PMID:22295953 |
RGD:7207031 |
NCBI chr 6:125,529,911...125,663,642
Ensembl chr 6:125,523,737...125,663,642
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G |
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 chr 2:104,956,874...105,003,959
Ensembl chr 2:104,956,874...105,003,961
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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 chr 4:120,916,434...120,955,452
Ensembl chr 4:120,916,434...120,955,438
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G |
Ace |
angiotensin I converting enzyme |
treatment |
ISO |
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RGD |
PMID:8505110 |
RGD:12880006 |
NCBI chr11:105,858,774...105,880,790
Ensembl chr11:105,858,771...105,880,790
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G |
Actn4 |
actinin alpha 4 |
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ISO IAGP |
ClinVar Annotator: match by term: ACTN4-related condition | ClinVar Annotator: match by term: Focal sclerosis with hyalinosis | ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 1 OMIM:603278 |
OMIM ClinVar MouseDO |
PMID:9536098 PMID:10700177 PMID:16251236 PMID:17576681 PMID:18594871 PMID:19142020 PMID:19956976 PMID:21680739 PMID:22351778 PMID:22732337 PMID:23890478 PMID:24130771 PMID:25741868 PMID:26248470 PMID:26301083 PMID:26346198 PMID:26467025 PMID:26740551 PMID:27535533 PMID:28492532 PMID:29869118 PMID:30406062 PMID:31027891 PMID:36090564 More...
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NCBI chr 7:28,592,673...28,661,799
Ensembl chr 7:28,592,673...28,661,765
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G |
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 chr 5:102,355,043...103,053,743
Ensembl chr 5:102,629,257...103,045,803
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G |
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 1:156,157,985...156,248,743
Ensembl chr 1:156,151,079...156,248,729
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G |
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 chr17:35,081,578...35,101,076
Ensembl chr17:35,081,580...35,117,241
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G |
C3 |
complement component 3 |
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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 chr17:57,510,967...57,535,136
Ensembl chr17:57,510,970...57,535,136
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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 chr17:43,059,857...43,187,593
Ensembl chr17:43,103,842...43,187,556
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G |
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 chr17:35,075,350...35,081,492
Ensembl chr17:35,075,350...35,081,494
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G |
Cfi |
complement component 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 chr 3:129,630,432...129,668,978
Ensembl chr 3:129,629,533...129,668,981
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G |
Col4a4 |
collagen, type IV, alpha 4 |
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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 chr 1:82,426,140...82,564,570
Ensembl chr 1:82,426,144...82,564,570
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G |
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 2:13,281,149...13,496,687
Ensembl chr 2:13,281,149...13,496,624
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G |
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 chr 1:14,239,177...14,381,259
Ensembl chr 1:14,239,178...14,380,459
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G |
Inf2 |
inverted formin, FH2 and WH2 domain containing |
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ISO |
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr12:112,555,121...112,581,991
Ensembl chr12:112,555,218...112,581,991
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G |
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 7:30,146,955...30,160,105
Ensembl chr 7:30,146,959...30,157,115
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G |
Lamb2 |
laminin, 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 chr 9:108,357,080...108,367,729
Ensembl chr 9:108,356,935...108,367,729
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G |
Myh9 |
myosin, heavy polypeptide 9, non-muscle |
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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 chr15:77,644,788...77,726,315
Ensembl chr15:77,644,787...77,726,375
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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 chr 9:59,658,128...59,836,149
Ensembl chr 9:59,658,179...59,836,149
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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 chr11:59,432,395...59,457,781
Ensembl chr11:59,432,394...59,457,782
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G |
Nphp3 |
nephronophthisis 3 (adolescent) |
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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 9:103,879,743...103,921,010
Ensembl chr 9:103,879,743...103,921,017
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G |
Nphs2 |
nephrosis 2, 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 1:156,138,105...156,155,605
Ensembl chr 1:156,138,297...156,155,605
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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 chr10:117,586,526...117,628,607
Ensembl chr10:117,586,526...117,628,610
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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 chr19:44,735,040...44,826,708
Ensembl chr19:44,735,057...44,826,310
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G |
Plce1 |
phospholipase C, epsilon 1 |
|
ISO |
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr19:38,469,438...38,773,549
Ensembl chr19:38,469,557...38,773,474
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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 chr16:8,455,467...8,475,472
Ensembl chr16:8,455,538...8,480,331
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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 8:91,943,658...92,039,919
Ensembl chr 8:91,943,658...92,039,890
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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 chr 5:92,589,170...92,653,516
Ensembl chr 5:92,589,173...92,654,692
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G |
Sdccag8 |
serologically defined colon cancer antigen 8 |
|
ISO |
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis |
ClinVar |
PMID:25741868 |
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NCBI chr 1:176,642,226...176,848,004
Ensembl chr 1:176,642,226...176,848,003
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G |
Slc17a5 |
solute carrier family 17 (anion/sugar transporter), member 5 |
|
ISO |
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis |
ClinVar |
PMID:25741868 PMID:28492532 PMID:29140481 |
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NCBI chr 9:78,443,769...78,495,346
Ensembl chr 9:78,443,770...78,495,323
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G |
Smarcal1 |
SNF2 related chromatin remodeling ATPase like 1 |
|
ISO |
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis |
ClinVar |
PMID:11799392 PMID:15880370 PMID:16840568 PMID:17089404 PMID:18805831 PMID:19127206 PMID:20301550 PMID:21914180 PMID:22998683 PMID:24589093 PMID:25741868 PMID:26499378 PMID:28492532 PMID:28796785 PMID:29127259 PMID:30784191 More...
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NCBI chr 1:72,575,593...72,675,949
Ensembl chr 1:72,622,410...72,672,293
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G |
Trpc6 |
transient receptor potential cation channel, subfamily C, member 6 |
|
ISO |
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 9:8,543,868...8,680,753
Ensembl chr 9:8,544,143...8,680,742
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G |
Trpc6 |
transient receptor potential cation channel, subfamily C, member 6 |
|
ISO IAGP |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 2 | ClinVar Annotator: match by term: TRPC6-related condition OMIM:603965 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:2298509 PMID:10200986 PMID:15879175 PMID:15924139 PMID: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 9:8,543,868...8,680,753
Ensembl chr 9:8,544,143...8,680,742
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G |
Cd2ap |
CD2-associated protein |
|
ISO IAGP |
ClinVar Annotator: match by term: CD2AP-related condition | ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 3, susceptibility to OMIM:607832 |
OMIM ClinVar MouseDO |
PMID: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 chr17:43,059,857...43,187,593
Ensembl chr17:43,103,842...43,187,556
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G |
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 chr12:112,586,481...112,607,789
Ensembl chr12:112,586,479...112,607,794
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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 chr12:112,738,631...112,766,278
Ensembl chr12:112,738,628...112,766,277
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G |
Akt1 |
thymoma viral proto-oncogene 1 |
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ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 |
ClinVar |
PMID:28492532 |
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NCBI chr12:112,620,260...112,641,266
Ensembl chr12:112,620,255...112,641,318
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G |
Brf1 |
BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit |
|
ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 |
ClinVar |
PMID:28492532 |
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NCBI chr12:112,919,251...112,964,327
Ensembl chr12:112,923,705...112,964,324
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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 chr12:112,937,880...112,943,113
Ensembl chr12:112,940,102...112,942,565
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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 chr12:112,783,849...112,793,141
Ensembl chr12:112,783,849...112,793,043
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G |
Cep170b |
centrosomal protein 170B |
|
ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 |
ClinVar |
PMID:28492532 |
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NCBI chr12:112,687,950...112,713,026
Ensembl chr12:112,686,889...112,713,026
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G |
Clba1 |
clathrin binding box of aftiphilin containing 1 |
|
ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 |
ClinVar |
PMID:28492532 |
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NCBI chr12:112,772,595...112,779,865
Ensembl chr12:112,772,557...112,779,872
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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 chr12:112,814,493...112,832,035
Ensembl chr12:112,814,493...112,831,848
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Inf2 |
inverted formin, FH2 and WH2 domain containing |
|
ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 | ClinVar Annotator: match by term: INF2-related condition CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:6054293 PMID:9536098 PMID:16199547 PMID:17576681 PMID:20023659 PMID:20803156 PMID:21258034 PMID:21415313 PMID:21866090 PMID:22187985 PMID:22961558 PMID:23014460 PMID:23349334 PMID:23515051 PMID:23521651 PMID:24174593 PMID:24750328 PMID:25165188 PMID:25407002 PMID:25676889 PMID:25741868 PMID:25741869 PMID:25943269 PMID:26086034 PMID:26248470 PMID:26467025 PMID:26467726 PMID:26764407 PMID:27350175 PMID:27549087 PMID:28492532 PMID:28658201 PMID:28780565 PMID:29653220 PMID:29869118 PMID:30126379 PMID:30373780 PMID:30406062 PMID:30586318 PMID:30680856 PMID:30773290 PMID:30962575 PMID:31328266 PMID:31515790 PMID:31924668 PMID:31937884 PMID:32444357 PMID:32451589 PMID:32604935 PMID:32901917 PMID:33443052 PMID:33712733 PMID:34120753 PMID:36413997 PMID:36506246 PMID:36637069 PMID:37772439 More...
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NCBI chr12:112,555,121...112,581,991
Ensembl chr12:112,555,218...112,581,991
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G |
Jag2 |
jagged 2 |
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ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 |
ClinVar |
PMID:28492532 |
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NCBI chr12:112,871,439...112,893,437
Ensembl chr12:112,871,439...112,893,396
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G |
Nudt14 |
nudix hydrolase 14 |
|
ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 |
ClinVar |
PMID:28492532 |
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NCBI chr12:112,897,911...112,905,762
Ensembl chr12:112,897,911...112,905,744
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G |
Pacs2 |
phosphofurin acidic cluster sorting protein 2 |
|
ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 |
ClinVar |
PMID:28492532 |
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NCBI chr12:112,977,998...113,038,021
Ensembl chr12:112,978,128...113,038,021
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G |
Pld4 |
phospholipase D family member 4 |
|
ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 |
ClinVar |
PMID:28492532 |
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NCBI chr12:112,727,089...112,735,420
Ensembl chr12:112,727,089...112,735,424
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G |
Siva1 |
SIVA1, apoptosis-inducing factor |
|
ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 |
ClinVar |
PMID:28492532 |
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NCBI chr12:112,611,262...112,615,586
Ensembl chr12:112,611,113...112,615,583
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G |
Zbtb42 |
zinc finger and BTB domain containing 42 |
|
ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 |
ClinVar |
PMID:28492532 |
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NCBI chr12:112,645,042...112,649,181
Ensembl chr12:112,645,262...112,649,181
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G |
Ldhal6b |
lactate dehydrogenase A-like 6B |
|
ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 6 |
ClinVar |
PMID:25741868 |
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NCBI chr17:5,467,598...5,469,042
Ensembl chr17:5,467,598...5,469,042
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G |
Myo1e |
myosin IE |
|
ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 6 | ClinVar Annotator: match by term: MYO1E-related condition |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:21756023 PMID:25741868 PMID:28492532 PMID:33532864 More...
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NCBI chr 9:70,114,632...70,307,349
Ensembl chr 9:70,114,632...70,307,048
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G |
Pax2 |
paired box 2 |
|
ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 7 |
OMIM ClinVar |
PMID:3077329 PMID:3377002 PMID:8589702 PMID:9106533 PMID:10466411 PMID:10533062 PMID:11093271 PMID:11241473 PMID:11461952 PMID:16199547 PMID:20301624 PMID:21108633 PMID:21654726 PMID:22213154 PMID:22350371 PMID:23539225 PMID:24429398 PMID:24676634 PMID:25741868 PMID:27226968 PMID:27657687 PMID:28041643 PMID:28492532 PMID:28566479 PMID:29973660 PMID:30076350 PMID:30241513 PMID:30773290 PMID:31001663 PMID:31027891 PMID:31060108 PMID:31576025 PMID:31692565 PMID:32203253 PMID:32604935 PMID:32776440 PMID:33532864 PMID:33997468 PMID:34696790 PMID:35444690 PMID:35574290 PMID:36549658 More...
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NCBI chr19:44,735,040...44,826,708
Ensembl chr19:44,735,057...44,826,310
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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 chr 9:22,243,305...22,302,132
Ensembl chr 9:22,243,308...22,300,484
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G |
Synpo |
synaptopodin |
|
ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 8 |
ClinVar |
PMID:25741868 PMID:33615071 |
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NCBI chr18:60,727,053...60,793,241
Ensembl chr18:60,727,045...60,793,214
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G |
Crb2 |
crumbs family member 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 2:37,666,238...37,689,115
Ensembl chr 2:37,666,261...37,689,115
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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 chr19:46,490,087...46,504,894
Ensembl chr19:46,490,141...46,505,287
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G |
Cfh |
complement component factor h |
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ISO IMP |
DNA:SNPs,Haplotype:: |
RGD |
PMID:17517971 PMID:17517971 |
RGD:7364995, RGD:7364995 |
NCBI chr 1:140,013,593...140,111,149
Ensembl chr 1:140,012,446...140,111,502
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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 chr 1:71,596,315...71,618,562
Ensembl chr 1:71,596,309...71,618,790
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G |
Fn1 |
fibronectin 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Glomerulopathy with fibronectin deposits 2 |
OMIM CTD 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 chr 1:71,624,632...71,692,439
Ensembl chr 1:71,624,679...71,692,359
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G |
Inf2 |
inverted formin, FH2 and WH2 domain containing |
|
ISO |
ClinVar Annotator: match by term: Glomerulopathy with fibronectin deposits 2 |
ClinVar |
PMID:25741868 |
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NCBI chr12:112,555,121...112,581,991
Ensembl chr12:112,555,218...112,581,991
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G |
Ace |
angiotensin I converting enzyme |
treatment |
ISO |
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RGD |
PMID:21718676 |
RGD:12879389 |
NCBI chr11:105,858,774...105,880,790
Ensembl chr11:105,858,771...105,880,790
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G |
Ager |
advanced glycosylation end product-specific receptor |
treatment |
IMP IDA |
associated with Diabetic Nephropathies |
RGD |
PMID:23046363 PMID:20554645 |
RGD:7243247, RGD:7244139 |
NCBI chr17:34,816,545...34,819,911
Ensembl chr17:34,816,836...34,819,910
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G |
Agtr1a |
angiotensin II receptor, type 1a |
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ISO |
mRNA:decreased expression:kidney |
RGD |
PMID:12495295 |
RGD:6903859 |
NCBI chr13:30,520,339...30,566,850
Ensembl chr13:30,520,424...30,566,850
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G |
Agtr2 |
angiotensin II receptor, type 2 |
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ISO IMP |
associated with Kidney Failure, Chronic mRNA:increased expression:kidney |
RGD |
PMID:20042458 PMID:20631980 PMID:12495295 |
RGD:6903284, RGD:6903882, RGD:6903859 |
NCBI chr X:21,350,863...21,355,072
Ensembl chr X:21,350,783...21,355,403
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G |
Apoe |
apolipoprotein E |
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ISO |
protein:increased expression:renal glomerulus (rat) |
RGD |
PMID:22207560 PMID:21907828 |
RGD:6903199, RGD:6903285 |
NCBI chr 7:19,430,169...19,434,326
Ensembl chr 7:19,430,034...19,433,113
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G |
Col3a1 |
collagen, type III, alpha 1 |
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ISO |
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RGD |
PMID:20610530 |
RGD:7257557 |
NCBI chr 1:45,350,698...45,388,866
Ensembl chr 1:45,350,698...45,388,866
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G |
Esr2 |
estrogen receptor 2 (beta) |
susceptibility |
IEP |
protein:decreased expression:renal glomerulus (mouse) |
RGD |
PMID:12000739 |
RGD:7364801 |
NCBI chr12:76,167,193...76,224,033
Ensembl chr12:76,167,193...76,224,033
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G |
Fbn1 |
fibrillin 1 |
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IMP |
associated with Hypertension |
RGD |
PMID:16380460 |
RGD:7365080 |
NCBI chr 2:125,142,514...125,348,417
Ensembl chr 2:125,142,514...125,349,913
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G |
Hbegf |
heparin-binding EGF-like growth factor |
induced |
ISO |
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RGD |
PMID:16107576 |
RGD:1556472 |
NCBI chr18:36,637,980...36,648,858
Ensembl chr18:36,637,980...36,648,858
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G |
Il1b |
interleukin 1 beta |
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ISO |
associated with Hypertension |
RGD |
PMID:19948880 |
RGD:7175503 |
NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059
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G |
Mmp1a |
matrix metallopeptidase 1a (interstitial collagenase) |
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ISO |
associated with Hyperhomocysteinemia protein:decreased expression:kidney (rat) |
RGD |
PMID:20406136 PMID:21275176 |
RGD:7207203, RGD:7207363 |
NCBI chr 9:7,464,141...7,476,870
Ensembl chr 9:7,464,141...7,476,857
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G |
Mmp1b |
matrix metallopeptidase 1b (interstitial collagenase) |
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ISO |
associated with Hyperhomocysteinemia protein:decreased expression:kidney (rat) |
RGD |
PMID:20406136 PMID:21275176 |
RGD:7207203 RGD:7207363 |
NCBI chr 9:7,367,670...7,388,026
Ensembl chr 9:7,368,239...7,388,047
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G |
Mmp9 |
matrix metallopeptidase 9 |
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ISO |
associated with Hyperhomocysteinemia associated with Obesity;mRNA:decreased expression:glomerulus |
RGD |
PMID:20406136 PMID:9300240 |
RGD:7207203, RGD:8547929 |
NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770
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G |
Nphs1 |
nephrosis 1, nephrin |
treatment |
IEP |
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RGD |
PMID:22125642 |
RGD:40902998 |
NCBI chr 7:30,157,259...30,188,048
Ensembl chr 7:30,157,740...30,186,648
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G |
Pax2 |
paired box 2 |
|
ISO |
ClinVar Annotator: match by term: Glomerulosclerosis |
ClinVar |
PMID:3377002 PMID:8589702 PMID:9106533 PMID:11093271 PMID:11241473 PMID:11461952 PMID:22213154 PMID:22350371 PMID:24429398 PMID:24676634 PMID:25741868 PMID:27226968 PMID:28492532 PMID:31001663 PMID:32203253 PMID:33532864 PMID:34696790 PMID:35444690 More...
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NCBI chr19:44,735,040...44,826,708
Ensembl chr19:44,735,057...44,826,310
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G |
Pla2g7 |
phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma) |
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ISO |
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RGD |
PMID:16213192 |
RGD:7248790 |
NCBI chr17:43,879,009...43,923,093
Ensembl chr17:43,878,989...43,923,092
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G |
Plekha7 |
pleckstrin homology domain containing, family A member 7 |
ameliorates |
ISO |
compared to wild type |
RGD |
PMID:25136115 PMID:25136115 |
RGD:11079199, RGD:11079199 |
NCBI chr 7:115,722,722...115,907,617
Ensembl chr 7:115,722,720...115,907,611
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G |
Pparg |
peroxisome proliferator activated receptor gamma |
treatment |
ISO |
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RGD |
PMID:11318962 |
RGD:8553043 |
NCBI chr 6:115,337,828...115,467,365
Ensembl chr 6:115,337,912...115,467,360
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G |
Rgs2 |
regulator of G-protein signaling 2 |
susceptibility |
ISO |
associated with Hypertension |
RGD |
PMID:26606876 |
RGD:13524570 |
NCBI chr 1:143,875,076...143,879,887
Ensembl chr 1:143,875,076...143,879,899
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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 chr19:33,115,140...33,369,695
Ensembl chr19:33,115,147...33,369,665
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G |
Serpine1 |
serine (or cysteine) peptidase inhibitor, clade E, member 1 |
treatment |
ISO |
mRNA, protein:increased expression:kidney (rat) |
RGD |
PMID:26999660 PMID:27129290 |
RGD:11073618, RGD:11073688 |
NCBI chr 5:137,090,358...137,101,126
Ensembl chr 5:137,090,358...137,101,122
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G |
Shc1 |
src homology 2 domain-containing transforming protein C1 |
ameliorates |
ISO |
compared to SS/JrHsdMcwi |
RGD |
PMID:27270176 |
RGD:12792230 |
NCBI chr 3:89,325,858...89,337,336
Ensembl chr 3:89,325,750...89,337,334
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G |
Slc2a1 |
solute carrier family 2 (facilitated glucose transporter), member 1 |
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IEP |
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RGD |
PMID:19918242 |
RGD:12879501 |
NCBI chr 4:118,966,001...118,994,527
Ensembl chr 4:118,965,908...118,995,180
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G |
Spp1 |
secreted phosphoprotein 1 |
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ISO |
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RGD |
PMID:12675855 |
RGD:6903837 |
NCBI chr 5:104,582,977...104,588,919
Ensembl chr 5:104,582,984...104,588,916
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G |
Synpo |
synaptopodin |
treatment |
IEP |
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RGD |
PMID:22125642 |
RGD:40902998 |
NCBI chr18:60,727,053...60,793,241
Ensembl chr18:60,727,045...60,793,214
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G |
Tnfrsf1b |
tumor necrosis factor receptor superfamily, member 1b |
|
IMP |
associated with Hypertension |
RGD |
PMID:23389459 |
RGD:7245475 |
NCBI chr 4:144,938,938...144,973,453
Ensembl chr 4:144,940,033...144,973,440
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G |
Sox18 |
SRY (sex determining region Y)-box 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 chr 2:181,311,630...181,313,433
Ensembl chr 2:181,311,629...181,313,433
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G |
Ace |
angiotensin I converting enzyme |
disease_progression |
ISO |
ClinVar Annotator: match by term: Susceptibility to progression to renal failure in IgA nephropathy CTD Direct Evidence: marker/mechanism DNA:polymorphism:intron: |
ClinVar CTD RGD |
PMID:1313972 PMID:1319114 PMID:1328889 PMID:1386652 PMID:1976655 PMID:2847529 PMID:2849100 PMID:7593601 PMID:7729604 PMID:7783416 PMID:7854377 PMID:7909524 PMID:8131299 PMID:8131300 PMID:8136829 PMID:8170965 PMID:8208911 PMID:8298638 PMID:8314010 PMID:8541160 PMID:8644984 PMID:8675669 PMID:9120002 PMID:9236417 PMID:9259580 PMID:9699903 PMID:9737775 PMID:9916793 PMID:10099885 PMID:10636736 PMID:10643899 PMID:10841123 PMID:11687636 PMID:11956052 PMID:12220450 PMID:12666117 PMID:14657821 PMID:14872014 PMID:15110771 PMID:15277638 PMID:15381116 PMID:15531537 PMID:15534175 PMID:15635071 PMID:19221299 PMID:15118671 PMID:12220450 More...
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RGD:1331525, RGD:7257515 |
NCBI chr11:105,858,774...105,880,790
Ensembl chr11:105,858,771...105,880,790
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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 7:119,360,106...119,384,119
Ensembl chr 7:119,360,146...119,386,736
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G |
Adam10 |
a disintegrin and metallopeptidase domain 10 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:32715474 |
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NCBI chr 9:70,586,133...70,687,511
Ensembl chr 9:70,586,279...70,687,511
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G |
Add1 |
adducin 1 |
disease_progression |
ISO |
DNA:polymorphism:cds:rs4961(human) |
RGD |
PMID:19838659 |
RGD:7174725 |
NCBI chr 5:34,731,008...34,789,652
Ensembl chr 5:34,731,008...34,789,652
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G |
Add2 |
adducin 2 |
disease_progression |
ISO |
DNA:polymorphism:cds: rs4984(human) |
RGD |
PMID:19838659 |
RGD:7174725 |
NCBI chr 6:86,005,663...86,101,391
Ensembl chr 6:86,005,663...86,101,391
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G |
Agt |
angiotensinogen |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9259580 |
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NCBI chr 8:125,283,326...125,296,445
Ensembl chr 8:125,283,273...125,296,445
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G |
Agtr1a |
angiotensin II receptor, type 1a |
|
ISO |
protein:increased expression:kidney tubule |
RGD |
PMID:15930094 |
RGD:6903851 |
NCBI chr13:30,520,339...30,566,850
Ensembl chr13:30,520,424...30,566,850
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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:19194560 PMID:15930094 |
RGD:6903844, RGD:6903851 |
NCBI chr X:21,350,863...21,355,072
Ensembl chr X:21,350,783...21,355,403
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G |
Aurkb |
aurora kinase B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25133636 |
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NCBI chr11:68,936,477...68,942,490
Ensembl chr11:68,936,473...68,942,490
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G |
B4galt1 |
UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1 |
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IAGP |
OMIM:161950 | OMIM:616818 |
MouseDO |
|
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NCBI chr 4:40,804,602...40,855,711
Ensembl chr 4:40,804,602...40,854,005
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G |
C1qa |
complement component 1, q subcomponent, alpha polypeptide |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8840296 PMID:25133636 |
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NCBI chr 4:136,623,227...136,626,155
Ensembl chr 4:136,623,228...136,626,114
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G |
C1qb |
complement component 1, q subcomponent, beta polypeptide |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25133636 |
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NCBI chr 4:136,607,437...136,613,511
Ensembl chr 4:136,607,440...136,613,498
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G |
C2 |
complement C2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25133636 |
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NCBI chr17:35,081,578...35,101,076
Ensembl chr17:35,081,580...35,117,241
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G |
C3 |
complement component 3 |
|
ISO |
mRNA,protein:increased expression, increased activity:kidney |
RGD |
PMID:11287758 |
RGD:7175543 |
NCBI chr17:57,510,967...57,535,136
Ensembl chr17:57,510,970...57,535,136
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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 2:26,242,199...26,250,957
Ensembl chr 2:26,242,188...26,250,930
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G |
Ccl2 |
C-C motif chemokine ligand 2 |
|
ISO |
protein:increased expression:kidney |
RGD |
PMID:18433541 |
RGD:2307041 |
NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279
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G |
Ccl20 |
C-C motif chemokine ligand 20 |
disease_progression |
ISO |
|
RGD |
PMID:23192593 |
RGD:7483632 |
NCBI chr 1:83,094,487...83,096,888
Ensembl chr 1:83,094,487...83,096,888
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G |
Ccr6 |
C-C motif chemokine receptor 6 |
disease_progression |
ISO |
|
RGD |
PMID:23192593 |
RGD:7483632 |
NCBI chr17:8,454,875...8,477,353
Ensembl chr17:8,454,875...8,475,973
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G |
Cd14 |
CD14 antigen |
disease_progression |
ISO |
DNA:polymorphism:promoter:c. -159C>T (human) |
RGD |
PMID:12566518 |
RGD:7204499 |
NCBI chr18:36,858,117...36,859,868
Ensembl chr18:36,858,120...36,859,851
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G |
Cd163 |
CD163 antigen |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25133636 |
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NCBI chr 6:124,281,596...124,307,488
Ensembl chr 6:124,281,615...124,307,486
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G |
Cd44 |
CD44 antigen |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25133636 |
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NCBI chr 2:102,641,486...102,732,014
Ensembl chr 2:102,641,486...102,732,010
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G |
Cfb |
complement factor B |
disease_progression |
ISO |
mRNA:increased expression:kidney protein:increased expression:serum |
RGD |
PMID:8567024 PMID:17385664 PMID:3118258 |
RGD:7242737, RGD:7242759, RGD:7242754 |
NCBI chr17:35,075,350...35,081,492
Ensembl chr17:35,075,350...35,081,494
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G |
Cfhr1 |
complement factor H-related 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21399633 |
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NCBI chr 1:139,474,802...139,487,960
Ensembl chr 1:139,474,791...139,488,010
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G |
Cfhr2 |
complement factor H-related 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21399633 |
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NCBI chr 1:139,738,030...139,786,437
Ensembl chr 1:139,731,905...139,786,456
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G |
Chga |
chromogranin A |
|
ISO |
associated with Hypertension;DNA:polymorphism:promoter:-415T>C (human) |
RGD |
PMID:20113265 |
RGD:6906902 |
NCBI chr12:102,521,200...102,531,286
Ensembl chr12:102,521,228...102,531,287
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G |
Coro1c |
coronin, actin binding protein 1C |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25133636 |
|
NCBI chr 5:113,980,500...114,046,767
Ensembl chr 5:113,980,497...114,046,819
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G |
Cxcr2 |
C-X-C motif chemokine receptor 2 |
|
ISO |
DNA:SNPs: :rs4674257, rs4674259 (human) |
RGD |
PMID:21214373 |
RGD:7257677 |
NCBI chr 1:74,193,153...74,200,405
Ensembl chr 1:74,193,150...74,200,405
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G |
Defa21 |
defensin, alpha, 21 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22197929 PMID:25305756 |
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NCBI chr 8:21,515,561...21,516,533
Ensembl chr 8:21,515,561...21,516,532
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G |
Fabp1 |
fatty acid binding protein 1, liver |
|
ISO |
protein:increased expression:urine (human) |
RGD |
PMID:16118482 |
RGD:1578453 |
NCBI chr 6:71,176,863...71,182,018
Ensembl chr 6:71,176,811...71,182,007
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G |
Fas |
Fas cell surface death receptor |
treatment |
ISO |
|
RGD |
PMID:29844269 |
RGD:13792576 |
NCBI chr19:34,267,926...34,305,175
Ensembl chr19:34,268,066...34,305,172
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G |
Fcgr4 |
Fc receptor, IgG, low affinity IV |
disease_progression |
ISO |
DNA:polymorphism:exon:p.F176V(human) |
RGD |
PMID:16221721 |
RGD:5508463 |
NCBI chr 1:170,846,495...170,857,330
Ensembl chr 1:170,846,489...170,857,330
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G |
Fn1 |
fibronectin 1 |
|
ISO |
protein:increased expression:kidney |
RGD |
PMID:15925904 |
RGD:7206844 |
NCBI chr 1:71,624,632...71,692,439
Ensembl chr 1:71,624,679...71,692,359
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G |
Foxm1 |
forkhead box M1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25133636 |
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NCBI chr 6:128,339,957...128,352,849
Ensembl chr 6:128,339,930...128,353,109
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G |
Gpr183 |
G protein-coupled receptor 183 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25133636 |
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NCBI chr14:122,189,743...122,202,605
Ensembl chr14:122,189,963...122,202,607
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G |
H2-Ab1 |
histocompatibility 2, class II antigen A, beta 1 |
disease_progression |
ISO |
CTD Direct Evidence: marker/mechanism DNA:polymorphism: :HLA-DQB1*0301(human) |
CTD RGD |
PMID:25305756 PMID:7638860 |
RGD:36174018 |
NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393
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G |
Havcr1 |
hepatitis A virus cellular receptor 1 |
|
ISO |
protein:increased expression:urine: |
RGD |
PMID:23135864 PMID:21467131 |
RGD:7245479, RGD:7245983 |
NCBI chr11:46,630,644...46,670,405
Ensembl chr11:46,625,907...46,670,405
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G |
Hpse |
heparanase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25133636 |
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NCBI chr 5:100,827,350...100,867,582
Ensembl chr 5:100,827,350...100,867,582
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G |
Igf1r |
insulin-like growth factor I receptor |
|
ISO |
DNA: snp::rs2229765 |
RGD |
PMID:21047277 |
RGD:7242795 |
NCBI chr 7:67,601,486...67,883,416
Ensembl chr 7:67,602,575...67,883,416
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G |
Il18 |
interleukin 18 |
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ISO |
|
RGD |
PMID:22518072 |
RGD:6893446 |
NCBI chr 9:50,466,000...50,493,141
Ensembl chr 9:50,466,127...50,493,140
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G |
Il1a |
interleukin 1 alpha |
no_association |
ISO |
DNA:SNP:promoter:-889C>T (human) |
RGD |
PMID:21049406 |
RGD:6907116 |
NCBI chr 2:129,141,530...129,151,892
Ensembl chr 2:129,141,530...129,151,892
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G |
Il1b |
interleukin 1 beta |
no_association |
ISO |
DNA:SNPs: :rs1143627, rs3917356, rs1143633 (human) |
RGD |
PMID:19280228 PMID:21049406 |
RGD:6907082, RGD:6907116 |
NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059
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G |
Il1rn |
interleukin 1 receptor antagonist |
susceptibility |
ISO IMP |
DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human) mouse model treated with human protein response to immunoglobulin therapy rat model treated with human protein protein:decreased expression:serum, urine (human) DNA:polymorphisms:intron, 3' utr:IVS1+1890G>T, IVS1+8796A>G, *138C>G (rs928940, rs439154, rs315951) (human) |
RGD |
PMID:10916103 PMID:9370186 PMID:9844059 PMID:10079261 PMID:10566895 PMID:16209246 PMID:19280228 More...
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RGD:6906961, RGD:6909150, RGD:6909132, RGD:6909131, RGD:6907427, RGD:6907414, RGD:6907082 |
NCBI chr 2:24,226,872...24,241,503
Ensembl chr 2:24,226,865...24,241,506
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G |
Kif15 |
kinesin family member 15 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25133636 |
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NCBI chr 9:122,780,146...122,847,798
Ensembl chr 9:122,780,111...122,847,798
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G |
Lair1 |
leukocyte-associated Ig-like receptor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25133636 |
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NCBI chr 7:4,010,072...4,076,566
Ensembl chr 7:4,006,401...4,066,178
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G |
Laptm5 |
lysosomal-associated protein transmembrane 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25133636 |
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NCBI chr 4:130,640,627...130,663,459
Ensembl chr 4:130,640,436...130,663,452
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G |
Lcn2 |
lipocalin 2 |
|
ISO |
protein:increased expression:urine: |
RGD |
PMID:21467131 |
RGD:7245983 |
NCBI chr 2:32,274,649...32,277,751
Ensembl chr 2:32,274,645...32,278,264
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G |
Lhfpl2 |
lipoma HMGIC fusion partner-like 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25133636 |
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NCBI chr13:94,193,659...94,331,918
Ensembl chr13:94,194,304...94,331,917
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G |
Man2b1 |
mannosidase 2, alpha B1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25133636 |
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NCBI chr 8:85,809,941...85,824,215
Ensembl chr 8:85,809,899...85,824,911
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G |
Mertk |
MER proto-oncogene tyrosine kinase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25133636 |
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NCBI chr 2:128,540,836...128,645,082
Ensembl chr 2:128,540,876...128,644,814
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G |
Mir20a |
microRNA 20a |
disease_progression |
ISO |
|
RGD |
PMID:29459010 |
RGD:25823149 |
NCBI chr14:115,281,589...115,281,695
Ensembl chr14:115,281,589...115,281,695
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G |
Mmp14 |
matrix metallopeptidase 14 (membrane-inserted) |
|
ISO |
mRNA:increased expression:glomerulus |
RGD |
PMID:9848780 |
RGD:2314955 |
NCBI chr14:54,669,055...54,679,913
Ensembl chr14:54,669,069...54,682,821
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G |
Ms4a6c |
membrane-spanning 4-domains, subfamily A, member 6C |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25133636 |
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NCBI chr19:11,446,718...11,464,433
Ensembl chr19:11,446,730...11,459,556
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G |
Mtr |
5-methyltetrahydrofolate-homocysteine methyltransferase |
|
ISO |
DNA:polymorphism:Cds :2756A>G(human) |
RGD |
PMID:21737517 |
RGD:7207085 |
NCBI chr13:12,196,217...12,273,090
Ensembl chr13:12,197,598...12,272,999
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G |
Muc20 |
mucin 20 |
disease_progression |
ISO |
DNA:repeat |
RGD |
PMID:16508246 |
RGD:7364789 |
NCBI chr16:32,597,793...32,617,805
Ensembl chr16:32,597,793...32,617,805
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G |
Ngf |
nerve growth factor |
|
ISO |
DNA:SNP: :rs11102930 (human) |
RGD |
PMID:21178826 |
RGD:7242801 |
NCBI chr 3:102,377,235...102,428,329
Ensembl chr 3:102,377,235...102,428,329
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G |
Notch2 |
notch 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:32715474 |
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NCBI chr 3:97,920,854...98,057,683
Ensembl chr 3:97,920,843...98,057,677
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G |
Otub1 |
OTU domain, ubiquitin aldehyde binding 1 |
|
ISO |
protein:increased expression:kidney |
RGD |
PMID:22279542 |
RGD:7175260 |
NCBI chr19:7,175,571...7,183,649
Ensembl chr19:7,175,567...7,183,681
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G |
Pde5a |
phosphodiesterase 5A, cGMP-specific |
|
ISO |
DNA:SNP: :rs13124532(human) |
RGD |
PMID:20563733 |
RGD:7248685 |
NCBI chr 3:122,522,822...122,653,023
Ensembl chr 3:122,522,596...122,653,023
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G |
Pigr |
polymeric immunoglobulin receptor |
|
ISO |
ClinVar Annotator: match by term: IgA glomerulonephritis |
ClinVar |
PMID:12740691 PMID:16282702 |
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NCBI chr 1:130,754,421...130,779,986
Ensembl chr 1:130,754,421...130,779,986
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G |
Pla2g7 |
phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma) |
disease_progression |
ISO |
DNA:polymorphism:exon: |
RGD |
PMID:12220450 |
RGD:7257515 |
NCBI chr17:43,879,009...43,923,093
Ensembl chr17:43,878,989...43,923,092
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G |
Plau |
plasminogen activator, urokinase |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:9002298 |
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NCBI chr14:20,886,730...20,893,456
Ensembl chr14:20,886,728...20,893,453
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G |
Prc1 |
protein regulator of cytokinesis 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25133636 |
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NCBI chr 7:79,944,224...79,966,007
Ensembl chr 7:79,944,198...79,966,007
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G |
Scgb1a1 |
secretoglobin, family 1A, member 1 |
disease_progression |
ISO IAGP |
OMIM:161950 | OMIM:616818 |
MouseDO RGD |
PMID:11967037 |
RGD:6903255 |
NCBI chr19:9,061,006...9,065,320
Ensembl chr19:9,061,000...9,065,322
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G |
Sele |
selectin, endothelial cell |
|
ISO |
DNA:SNP:exon:p.H468Y (human) ClinVar Annotator: match by term: IgA nephropathy, susceptibility to |
ClinVar RGD |
PMID:11828340 PMID:16282702 PMID:11828340 |
RGD:1625253 |
NCBI chr 1:163,867,200...163,886,056
Ensembl chr 1:163,875,773...163,885,246
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G |
Sell |
selectin, lymphocyte |
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ISO |
|
RGD |
PMID:17452405 PMID:11828340 |
RGD:7175290, RGD:1625253 |
NCBI chr 1:163,889,556...163,908,354
Ensembl chr 1:163,889,551...163,911,750
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G |
Serpinb7 |
serine (or cysteine) peptidase inhibitor, clade B, member 7 |
disease_progression |
ISO |
DNA:SNPs:3' utr:2093C>T, 2180C>T (human) DNA:SNP:5' utr, exon:267G>A (human) DNA:SNP: :23167A>G (human) |
RGD |
PMID:18793525 PMID:16796905 PMID:16550745 |
RGD:7207366, RGD:7207380, RGD:7207372 |
NCBI chr 1:107,350,418...107,380,419
Ensembl chr 1:107,327,385...107,380,419
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G |
Shh |
sonic hedgehog |
|
ISO |
|
RGD |
PMID:24744439 |
RGD:12859042 |
NCBI chr 5:28,661,838...28,672,099
Ensembl chr 5:28,661,813...28,672,254
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G |
Slc43a3 |
solute carrier family 43, member 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25133636 |
|
NCBI chr 2:84,766,943...84,788,853
Ensembl chr 2:84,766,923...84,788,853
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G |
Spry2 |
sprouty RTK signaling antagonist 2 |
susceptibility |
ISO |
ClinVar Annotator: match by term: IgA nephropathy, susceptibility to, 3 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:25741868 PMID:25782674 |
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NCBI chr14:106,129,381...106,134,559
Ensembl chr14:106,129,381...106,134,253
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G |
St6galnac2 |
ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17480010 |
|
NCBI chr11:116,567,529...116,586,608
Ensembl chr11:116,566,129...116,585,694 Ensembl chr11:116,566,129...116,585,694
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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 chr 1:52,026,265...52,146,348
Ensembl chr 1:52,026,307...52,146,348
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G |
Tgfb1 |
transforming growth factor, beta 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11728950 |
|
NCBI chr 7:25,386,406...25,404,503
Ensembl chr 7:25,386,427...25,404,502
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G |
Timp1 |
tissue inhibitor of metalloproteinase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25133636 |
|
NCBI chr X:20,736,524...20,740,972
Ensembl chr X:20,736,405...20,740,974
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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 5:65,082,023...65,090,945
Ensembl chr 5:65,082,022...65,090,906
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G |
Tlr9 |
toll-like receptor 9 |
severity treatment |
IAGP IEP IDA ISO |
DNA, mRNA:SNP, increased expression:exon, spleen:g.159C>G (mouse) associated with Graft vs Host Disease; mRNA:increased expression:splenocyte (mouse) DNA:SNPs:intron, exon:IVS4-44A>G, c.1635G>A (rs352139, rs352140) (human) |
RGD |
PMID:18776126 PMID:21621468 PMID:21621468 PMID:18776126 |
RGD:7246889, RGD:7246893, RGD:7246893, RGD:7246889 |
NCBI chr 9:106,099,797...106,104,075
Ensembl chr 9:106,099,797...106,104,082
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G |
Tnf |
tumor necrosis factor |
treatment |
ISO |
|
RGD |
PMID:9844059 |
RGD:6909132 |
NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
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G |
Tnfrsf1a |
tumor necrosis factor receptor superfamily, member 1a |
treatment |
ISO |
protein:increased expression:serum |
RGD |
PMID:16209246 PMID:9844059 |
RGD:6907414, RGD:6909132 |
NCBI chr 6:125,326,686...125,339,446
Ensembl chr 6:125,326,325...125,339,447
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G |
Tnfrsf1b |
tumor necrosis factor receptor superfamily, member 1b |
treatment |
ISO |
protein:increased expression:serum |
RGD |
PMID:16209246 PMID:9844059 |
RGD:6907414, RGD:6909132 |
NCBI chr 4:144,938,938...144,973,453
Ensembl chr 4:144,940,033...144,973,440
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G |
Tnfsf13 |
tumor necrosis factor (ligand) superfamily, member 13 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22197929 |
|
NCBI chr11:69,573,403...69,576,380
Ensembl chr11:69,573,672...69,576,610
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G |
Tnfsf13b |
tumor necrosis factor (ligand) superfamily, member 13b |
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IAGP |
OMIM:161950 |
MouseDO |
|
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NCBI chr 8:10,056,637...10,086,000
Ensembl chr 8:10,056,467...10,089,072
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G |
Tnfsf14 |
tumor necrosis factor (ligand) superfamily, member 14 |
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IAGP |
OMIM:161950 |
MouseDO |
|
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NCBI chr17:57,496,437...57,501,182
Ensembl chr17:57,496,492...57,501,177
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G |
Vav3 |
vav 3 oncogene |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25305756 |
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NCBI chr 3:109,247,757...109,593,010
Ensembl chr 3:109,247,969...109,593,014
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G |
Vsig4 |
V-set and immunoglobulin domain containing 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25133636 |
|
NCBI chr X:95,290,807...95,337,044
Ensembl chr X:95,290,809...95,337,044
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G |
Was |
Wiskott-Aldrich syndrome |
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IAGP |
OMIM:161950 | OMIM:616818 |
MouseDO |
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NCBI chr X:7,947,705...7,956,730
Ensembl chr X:7,947,692...7,956,737
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G |
Mir146 |
microRNA 146 |
|
IMP |
|
RGD |
PMID:31666653 |
RGD:126925182 |
NCBI chr11:43,265,224...43,265,288
Ensembl chr11:43,265,224...43,265,288
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G |
Cdkn1a |
cyclin dependent kinase inhibitor 1A |
treatment |
ISO |
|
RGD |
PMID:24119646 |
RGD:10043363 |
NCBI chr17:29,309,953...29,319,696
Ensembl chr17:29,309,950...29,319,701
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G |
Il13 |
interleukin 13 |
|
ISO |
|
RGD |
PMID:17429054 |
RGD:2290347 |
NCBI chr11:53,522,150...53,525,529
Ensembl chr11:53,522,151...53,525,529
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G |
Il17a |
interleukin 17A |
|
ISO |
Protein:increased expression:plasma (rat) |
RGD |
PMID:22772331 |
RGD:9068937 |
NCBI chr 1:20,801,129...20,804,720
Ensembl chr 1:20,801,129...20,804,720
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G |
Lgals1 |
lectin, galactose binding, soluble 1 |
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ISO |
protein:decreased expression:glomerulus, podocytes (rat) |
RGD |
PMID:19079321 |
RGD:2316526 |
NCBI chr15:78,810,925...78,814,665
Ensembl chr15:78,810,925...78,814,665
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G |
Lmx1b |
LIM homeobox transcription factor 1 beta |
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ISO |
ClinVar Annotator: match by term: Lipoid nephrosis |
ClinVar |
PMID:23687361 PMID:32581362 |
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NCBI chr 2:33,450,977...33,531,219
Ensembl chr 2:33,450,977...33,530,620
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G |
Nr3c1 |
nuclear receptor subfamily 3, group C, member 1 |
disease_progression |
ISO |
|
RGD |
PMID:17890747 |
RGD:7174718 |
NCBI chr18:39,543,598...39,652,485
Ensembl chr18:39,543,598...39,652,474
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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:7244146, RGD:7244144 |
NCBI chr10:127,478,855...127,496,856
Ensembl chr10:127,478,855...127,496,826
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G |
Ager |
advanced glycosylation end product-specific receptor |
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ISO |
DNA:polymorphisms:promoter, intron:g.-429T>C rs1800625, g.-374T>A rs1800624, g.2184A>G rs3134940 (human) |
RGD |
PMID:22513366 |
RGD:6767309 |
NCBI chr17:34,816,545...34,819,911
Ensembl chr17:34,816,836...34,819,910
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G |
Apoc3 |
apolipoprotein C-III |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:17957542 |
RGD:7207211 |
NCBI chr 9:46,144,348...46,146,934
Ensembl chr 9:46,144,231...46,146,934
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G |
C3 |
complement component 3 |
|
ISO |
protein:decreased expression:serum CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:31182691 PMID:21888025 |
RGD:7175544 |
NCBI chr17:57,510,967...57,535,136
Ensembl chr17:57,510,970...57,535,136
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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:8549732, RGD:11528534 |
NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279
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G |
Ccl3 |
C-C motif chemokine ligand 3 |
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IEP |
|
RGD |
PMID:18187931 |
RGD:7241814 |
NCBI chr11:83,538,669...83,540,204
Ensembl chr11:83,538,670...83,540,181
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G |
Ccr1 |
C-C motif chemokine receptor 1 |
disease_progression |
IMP |
|
RGD |
PMID:15153561 |
RGD:5688164 |
NCBI chr 9:123,762,163...123,768,729
Ensembl chr 9:123,762,161...123,768,729
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G |
Cd40 |
CD40 antigen |
treatment |
IMP IDA |
|
RGD |
PMID:23799000 PMID:18566369 PMID:19265127 |
RGD:7248418, RGD:7248429, RGD:7248425 |
NCBI chr 2:164,897,535...164,913,574
Ensembl chr 2:164,897,547...164,914,868
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G |
Cd40lg |
CD40 ligand |
treatment |
ISO IDA IMP |
protein:increased expression:serum |
RGD |
PMID:20726330 PMID:11751940 PMID:12632425 PMID:13130474 PMID:15693003 |
RGD:7248426, RGD:7248714, RGD:7248710, RGD:7248600, RGD:7248439 |
NCBI chr X:56,257,448...56,269,402
Ensembl chr X:56,257,503...56,269,402
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G |
Cfb |
complement factor B |
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IMP IEP ISO |
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RGD |
PMID:10623824 PMID:3183062 PMID:21893562 |
RGD:7242736, RGD:7242763, RGD:7242755 |
NCBI chr17:35,075,350...35,081,492
Ensembl chr17:35,075,350...35,081,494
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G |
Cfh |
complement component factor h |
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ISO |
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RGD |
PMID:22171659 |
RGD:5684551 |
NCBI chr 1:140,013,593...140,111,149
Ensembl chr 1:140,012,446...140,111,502
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G |
Clu |
clusterin |
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IEP |
mRNA:increased expression: epithelial cell of renal tubule |
RGD |
PMID:9546356 |
RGD:8890679 |
NCBI chr14:66,206,093...66,218,992
Ensembl chr14:66,205,932...66,218,996
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G |
Col1a1 |
collagen, type I, alpha 1 |
|
ISO IDA IEP |
associated with Graft vs Host Disease mRNA, protein:increased expression:kidney cortex |
RGD |
PMID:21354048 PMID:7700025 PMID:7723234 |
RGD:5688301, RGD:5688333, RGD:5688332 |
NCBI chr11:94,827,050...94,843,868
Ensembl chr11:94,827,050...94,843,868
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G |
Crp |
C-reactive protein, pentraxin-related |
no_association |
ISO |
DNA:SNP |
RGD |
PMID:18852001 PMID:17596285 PMID:20039408 PMID:15692982 |
RGD:6907400, RGD:5508454, RGD:6909146, RGD:6909145 |
NCBI chr 1:172,525,623...172,527,533
Ensembl chr 1:172,525,622...172,660,598
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G |
Csf1 |
colony stimulating factor 1 (macrophage) |
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IMP ISO |
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RGD |
PMID:21885670 PMID:17659436 |
RGD:7257567, RGD:7257589 |
NCBI chr 3:107,648,364...107,668,048
Ensembl chr 3:107,648,364...107,667,785
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G |
Ctla4 |
cytotoxic T-lymphocyte-associated protein 4 |
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ISO |
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RGD |
PMID:15146424 |
RGD:7204726 |
NCBI chr 1:60,948,184...60,954,991
Ensembl chr 1:60,926,159...60,954,991
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G |
Egf |
epidermal growth factor |
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ISO |
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RGD |
PMID:21354048 |
RGD:5688301 |
NCBI chr 3:129,471,223...129,548,971
Ensembl chr 3:129,471,214...129,548,965
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G |
Fas |
Fas cell surface death receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:33632240 PMID:38555047 |
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NCBI chr19:34,267,926...34,305,175
Ensembl chr19:34,268,066...34,305,172
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G |
Fcgr2b |
Fc receptor, IgG, low affinity IIb |
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IMP |
|
RGD |
PMID:15681388 |
RGD:7240529 |
NCBI chr 1:170,786,186...170,804,141
Ensembl chr 1:170,786,186...170,804,116
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G |
Fcgr3 |
Fc receptor, IgG, low affinity III |
|
ISO |
DNA:missense mutation:cds:p.H131R (human) |
RGD |
PMID:15004265 |
RGD:5147975 |
NCBI chr 1:170,878,738...170,893,477
Ensembl chr 1:170,878,743...170,892,504
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G |
Fcgr4 |
Fc receptor, IgG, low affinity IV |
susceptibility |
ISO |
DNA:SNP:cds:p.V158F (human) |
RGD |
PMID:17596285 |
RGD:5508454 |
NCBI chr 1:170,846,495...170,857,330
Ensembl chr 1:170,846,489...170,857,330
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G |
H2-Aa |
histocompatibility 2, class II antigen A, alpha |
susceptibility |
ISO |
DNA:polymorphisms:cds:HLA-DQA1*0101 (human) DNA:polymorphisms:cds:HLA-DQA1*0102 (human) |
RGD |
PMID:12651073 |
RGD:40902999 |
NCBI chr17:34,501,718...34,506,797
Ensembl chr17:34,501,718...34,506,797
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G |
H2-Eb1 |
histocompatibility 2, class II antigen E beta |
susceptibility |
ISO |
DNA:polymorphisms:cds:HLA-DRB1*1501 (human) |
RGD |
PMID:12651073 |
RGD:40902999 |
NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648
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G |
Ifng |
interferon gamma |
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ISO |
protein:increased expression:serum,urine CTD Direct Evidence: marker/mechanism protein:increased processing:kidney |
CTD RGD |
PMID:31182691 PMID:22764573 PMID:29925830 |
RGD:6893369, RGD:14974252 |
NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797
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G |
Il17a |
interleukin 17A |
treatment |
IDA |
|
RGD |
PMID:25129462 |
RGD:9244623 |
NCBI chr 1:20,801,129...20,804,720
Ensembl chr 1:20,801,129...20,804,720
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G |
Il18 |
interleukin 18 |
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IEP |
|
RGD |
PMID:20980973 |
RGD:6893449 |
NCBI chr 9:50,466,000...50,493,141
Ensembl chr 9:50,466,127...50,493,140
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G |
Il1b |
interleukin 1 beta |
|
IDA IEP |
mRNA:increased expression:renal glomerulus (mouse) |
RGD |
PMID:21641991 PMID:20410215 |
RGD:7175315, RGD:7175344 |
NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059
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G |
Il1rn |
interleukin 1 receptor antagonist |
resistance |
ISO |
associated with Lupus Erythematosus, Systemic; protein:increased expression:serum (human) |
RGD |
PMID:20538031 |
RGD:6907068 |
NCBI chr 2:24,226,872...24,241,503
Ensembl chr 2:24,226,865...24,241,506
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G |
Itgam |
integrin alpha M |
|
ISO |
|
RGD |
PMID:21719445 |
RGD:5147916 |
NCBI chr 7:127,661,812...127,717,663
Ensembl chr 7:127,661,812...127,717,663
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G |
Jak1 |
Janus kinase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:31182691 |
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NCBI chr 4:101,009,171...101,122,493
Ensembl chr 4:101,009,564...101,122,479
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G |
Klkb1 |
kallikrein B, plasma 1 |
susceptibility |
ISO |
DNA:SNPs:promoter: |
RGD |
PMID:19307730 |
RGD:7327150 |
NCBI chr 8:45,719,725...45,747,872
Ensembl chr 8:45,719,726...45,747,896
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|
G |
Mbl2 |
mannose-binding lectin (protein C) 2 |
disease_progression |
ISO |
DNA:polymorphism:exon: |
RGD |
PMID:24850777 |
RGD:12910847 |
NCBI chr19:30,210,306...30,217,087
Ensembl chr19:30,210,342...30,217,087
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G |
Mir125a |
microRNA 125a |
|
ISO |
RNA:decreased expression:kidney |
RGD |
PMID:30972208 |
RGD:26884458 |
NCBI chr17:18,051,074...18,051,141
Ensembl chr17:18,051,074...18,051,141
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G |
Mmp2 |
matrix metallopeptidase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22479529 |
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NCBI chr 8:93,553,920...93,580,049
Ensembl chr 8:93,553,919...93,580,048
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G |
Mmp9 |
matrix metallopeptidase 9 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22479529 |
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NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770
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G |
Mpo |
myeloperoxidase |
susceptibility |
ISO |
DNA:polymorphism: :−463G > A (human) |
RGD |
PMID:17896805 |
RGD:7174701 |
NCBI chr11:87,684,610...87,695,238
Ensembl chr11:87,684,407...87,695,239
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G |
Mtor |
mechanistic target of rapamycin kinase |
|
IMP |
|
RGD |
PMID:17283580 |
RGD:7245502 |
NCBI chr 4:148,533,039...148,642,142
Ensembl chr 4:148,533,068...148,642,140
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G |
Muc20 |
mucin 20 |
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IEP |
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RGD |
PMID:14565953 |
RGD:7364790 |
NCBI chr16:32,597,793...32,617,805
Ensembl chr16:32,597,793...32,617,805
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G |
Nr3c1 |
nuclear receptor subfamily 3, group C, member 1 |
|
IEP ISO |
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RGD |
PMID:21509671 PMID:17880936 |
RGD:7174713, RGD:7174734 |
NCBI chr18:39,543,598...39,652,485
Ensembl chr18:39,543,598...39,652,474
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G |
Otub1 |
OTU domain, ubiquitin aldehyde binding 1 |
|
ISO |
protein:increased expression:kidney |
RGD |
PMID:22279542 |
RGD:7175260 |
NCBI chr19:7,175,571...7,183,649
Ensembl chr19:7,175,567...7,183,681
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G |
Pdcd1 |
programmed cell death 1 |
onset |
ISO IMP |
DNA:polymorphism: : DNA:polymorphism:intron:6867 C>T (human) |
RGD |
PMID:15934088 PMID:21041733 PMID:15352422 |
RGD:7248675, RGD:7248678, RGD:7248676 |
NCBI chr 1:93,966,027...93,980,278
Ensembl chr 1:93,966,027...93,980,278
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G |
Sell |
selectin, lymphocyte |
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IEP |
|
RGD |
PMID:20512127 |
RGD:7175284 |
NCBI chr 1:163,889,556...163,908,354
Ensembl chr 1:163,889,551...163,911,750
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G |
Serping1 |
serine (or cysteine) peptidase inhibitor, clade G, member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:4014294 |
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NCBI chr 2:84,595,704...84,605,748
Ensembl chr 2:84,595,731...84,605,788
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G |
Snrpe |
small nuclear ribonucleoprotein E |
treatment |
IDA |
mouse model |
RGD |
PMID:15494537 |
RGD:10760401 |
NCBI chr 1:133,531,609...133,538,018
Ensembl chr 1:133,531,609...133,538,029
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G |
Stat1 |
signal transducer and activator of transcription 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:31182691 |
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NCBI chr 1:52,158,588...52,201,024
Ensembl chr 1:52,158,599...52,201,024
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G |
Stat4 |
signal transducer and activator of transcription 4 |
|
IMP |
|
RGD |
PMID:20980973 |
RGD:6893449 |
NCBI chr 1:52,026,265...52,146,348
Ensembl chr 1:52,026,307...52,146,348
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G |
Stat6 |
signal transducer and activator of transcription 6 |
disease_progression |
IMP |
|
RGD |
PMID:12874250 |
RGD:7244140 |
NCBI chr10:127,478,855...127,496,856
Ensembl chr10:127,478,855...127,496,826
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G |
Tlr7 |
toll-like receptor 7 |
|
IMP |
|
RGD |
PMID:19944565 |
RGD:7246905 |
NCBI chr X:166,086,376...166,113,570
Ensembl chr X:166,087,925...166,113,554
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G |
Tlr9 |
toll-like receptor 9 |
severity treatment no_association |
IMP IEP IDA ISO |
mRNA, protein:increased expression:kidney (mouse) associated with Graft vs Host Disease protein:increased expression:renal glomerulus (human) associated with Lupus Erythematosus, Systemic; DNA:snps:promoter, intron:g.-1486T>C, g.+1174A>G (rs187084, rs352139) (human, North Indian) DNA:snps:intron, exon:g.+1174G>A, g.+1635C>T (rs352139, rs352140) (human, Chinese) |
RGD |
PMID:23467932 PMID:17469139 PMID:21127878 PMID:19578108 PMID:22787315 PMID:20497632 More...
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RGD:7245987, RGD:7246911, RGD:7246897, RGD:7246896, RGD:7245989, RGD:7246884 |
NCBI chr 9:106,099,797...106,104,075
Ensembl chr 9:106,099,797...106,104,082
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G |
Tnf |
tumor necrosis factor |
|
ISO |
protein:increased expression:glomerular mesangial cell |
RGD |
PMID:7750940 |
RGD:7394786 |
NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
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G |
Tnfrsf11b |
tumor necrosis factor receptor superfamily, member 11b (osteoprotegerin) |
|
ISO |
associated with Lupus Erythematosus, Systemic;protein:increased expression:urine |
RGD |
PMID:21691937 |
RGD:7205483 |
NCBI chr15:54,114,014...54,141,700
Ensembl chr15:54,114,015...54,141,880
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G |
Tnfrsf1a |
tumor necrosis factor receptor superfamily, member 1a |
severity |
IGI ISO |
|
RGD |
PMID:19201910 PMID:10906156 |
RGD:7245569, RGD:7245572 |
NCBI chr 6:125,326,686...125,339,446
Ensembl chr 6:125,326,325...125,339,447
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|
G |
Tnfrsf1b |
tumor necrosis factor receptor superfamily, member 1b |
treatment |
ISO IDA |
|
RGD |
PMID:22846145 PMID:22674120 |
RGD:7245541, RGD:7245544 |
NCBI chr 4:144,938,938...144,973,453
Ensembl chr 4:144,940,033...144,973,440
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G |
Vcam1 |
vascular cell adhesion molecule 1 |
severity |
ISO |
protein:increased expression:urine |
RGD |
PMID:22788914 |
RGD:7241032 |
NCBI chr 3:115,903,669...115,923,337
Ensembl chr 3:115,903,598...115,923,337
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G |
Alb |
albumin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:1556257 |
|
NCBI chr 5:90,608,729...90,624,461
Ensembl chr 5:90,608,756...90,624,461
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G |
Angpt2 |
angiopoietin 2 |
|
ISO |
protein:increased expression:glomerulus (rat) |
RGD |
PMID:18272601 |
RGD:2314193 |
NCBI chr 8:18,740,279...18,791,578
Ensembl chr 8:18,740,279...18,791,578
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G |
C1qa |
complement component 1, q subcomponent, alpha polypeptide |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8840296 |
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NCBI chr 4:136,623,227...136,626,155
Ensembl chr 4:136,623,228...136,626,114
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G |
C3 |
complement component 3 |
|
ISO |
ClinVar Annotator: match by term: Mesangiocapillary glomerulonephritis |
ClinVar |
PMID:32581362 |
|
NCBI chr17:57,510,967...57,535,136
Ensembl chr17:57,510,970...57,535,136
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G |
Ccl2 |
C-C motif chemokine ligand 2 |
treatment |
ISO |
|
RGD |
PMID:10411686 |
RGD:8549648 |
NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279
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G |
Ccn2 |
cellular communication network factor 2 |
|
ISO |
protein:increased expression:kidney, glomerulus (rat) |
RGD |
PMID:15172885 |
RGD:1601118 |
NCBI chr10:24,471,340...24,474,581
Ensembl chr10:24,471,340...24,474,581
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G |
Ccr6 |
C-C motif chemokine receptor 6 |
treatment |
ISO |
|
RGD |
PMID:23192593 |
RGD:7483632 |
NCBI chr17:8,454,875...8,477,353
Ensembl chr17:8,454,875...8,475,973
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G |
Cdk2 |
cyclin dependent kinase 2 |
|
ISO |
|
RGD |
PMID:17893107 |
RGD:2293563 |
NCBI chr10:128,533,807...128,540,920
Ensembl chr10:128,533,808...128,540,900
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G |
Cdkn1b |
cyclin dependent kinase inhibitor 1B |
|
ISO |
protein:decreased expression:kidney |
RGD |
PMID:16787597 |
RGD:2293620 |
NCBI chr 6:134,897,364...134,902,488
Ensembl chr 6:134,897,364...134,902,476
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G |
Cfb |
complement factor B |
|
IMP ISO |
|
RGD |
PMID:12091909 PMID:2329415 |
RGD:734771, RGD:7242760 |
NCBI chr17:35,075,350...35,081,492
Ensembl chr17:35,075,350...35,081,494
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G |
Cfh |
complement component factor h |
|
ISO IAGP |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Mesangiocapillary glomerulonephritis | ClinVar Annotator: match by term: Mesangiocapillary glomerulonephritis, type II | ClinVar Annotator: match by term: Non-immunoglobulin-mediated membranoproliferative glomerulonephritis |
CTD ClinVar MouseDO |
PMID:14978182 PMID:21415311 PMID:22223606 PMID:22403278 PMID:25741868 PMID:28492532 PMID:32581362 PMID:34189567 PMID:34508573 More...
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NCBI chr 1:140,013,593...140,111,149
Ensembl chr 1:140,012,446...140,111,502
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G |
Cfi |
complement component factor i |
|
IDA |
|
RGD |
PMID:18202746 |
RGD:6906892 |
NCBI chr 3:129,630,432...129,668,978
Ensembl chr 3:129,629,533...129,668,981
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G |
Cxcr1 |
C-X-C motif chemokine receptor 1 |
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ISO |
|
RGD |
PMID:23336303 |
RGD:7207859 |
NCBI chr 1:74,228,862...74,233,867
Ensembl chr 1:74,230,944...74,233,790
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G |
Edn1 |
endothelin 1 |
treatment |
ISO |
mRNA, protein:increased expression:glomerulus (rat) |
RGD |
PMID:8569091 PMID:11601021 |
RGD:4144848, RGD:8662296 |
NCBI chr13:42,454,952...42,461,466
Ensembl chr13:42,454,952...42,461,466
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G |
Ep300 |
E1A binding protein p300 |
treatment |
ISO |
|
RGD |
PMID:24344329 |
RGD:9588308 |
NCBI chr15:81,470,329...81,536,273
Ensembl chr15:81,469,552...81,536,278
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G |
F5 |
coagulation factor V |
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ISO |
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RGD |
PMID:15172885 |
RGD:1601118 |
NCBI chr 1:163,979,396...164,048,539
Ensembl chr 1:163,979,407...164,047,846
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G |
Fn1 |
fibronectin 1 |
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ISO |
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RGD |
PMID:10082755 |
RGD:7206847 |
NCBI chr 1:71,624,632...71,692,439
Ensembl chr 1:71,624,679...71,692,359
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G |
Il1b |
interleukin 1 beta |
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ISO |
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RGD |
PMID:21871881 |
RGD:7175308 |
NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059
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G |
Kcnt2 |
potassium channel, subfamily T, member 2 |
|
ISO |
ClinVar Annotator: match by term: Mesangiocapillary glomerulonephritis |
ClinVar |
PMID:32581362 |
|
NCBI chr 1:140,173,373...140,541,783
Ensembl chr 1:140,173,896...140,539,805
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G |
Myoc |
myocilin |
|
ISO |
protein:increased expression:renal glomerulus (rat) |
RGD |
PMID:15610237 |
RGD:7401266 |
NCBI chr 1:162,466,719...162,477,263
Ensembl chr 1:162,466,724...162,477,262
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G |
Pfn1 |
profilin 1 |
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ISO |
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RGD |
PMID:8651905 |
RGD:729497 |
NCBI chr11:70,542,670...70,547,625
Ensembl chr11:70,542,676...70,545,470
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G |
Pon1 |
paraoxonase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16175651 |
|
NCBI chr 6:5,168,101...5,193,824
Ensembl chr 6:5,168,090...5,193,946
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G |
Prf1 |
perforin 1 (pore forming protein) |
|
ISO |
mRNA:increased expression:glomerulus |
RGD |
PMID:10886554 |
RGD:1599935 |
NCBI chr10:61,133,530...61,140,463
Ensembl chr10:61,133,612...61,140,459
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G |
Sparc |
secreted acidic cysteine rich glycoprotein |
|
ISO |
mRNA:increased expression:glomerulus |
RGD |
PMID:8644857 |
RGD:2300070 |
NCBI chr11:55,284,985...55,310,906
Ensembl chr11:55,285,326...55,314,009
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G |
Tgfbr2 |
transforming growth factor, beta receptor II |
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ISO |
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RGD |
PMID:11703592 |
RGD:1601601 |
NCBI chr 9:115,916,763...116,004,431
Ensembl chr 9:115,913,361...116,004,428
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G |
Tlr1 |
toll-like receptor 1 |
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IEP |
mRNA:increased expression:renal glomerulus (mouse) |
RGD |
PMID:18256364 |
RGD:7246909 |
NCBI chr 5:65,082,023...65,090,945
Ensembl chr 5:65,082,022...65,090,906
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G |
Tlr11 |
toll-like receptor 11 |
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IEP |
mRNA:increased expression:renal glomerulus (mouse) |
RGD |
PMID:18256364 |
RGD:7246909 |
NCBI chr14:50,595,371...50,601,120
Ensembl chr14:50,595,371...50,601,120
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G |
Tlr2 |
toll-like receptor 2 |
|
IEP |
mRNA:increased expression:renal glomerulus (mouse) |
RGD |
PMID:18256364 |
RGD:7246909 |
NCBI chr 3:83,743,579...83,749,045
Ensembl chr 3:83,743,579...83,749,074
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G |
Tlr4 |
toll-like receptor 4 |
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IEP |
mRNA:increased expression:renal glomerulus (mouse) |
RGD |
PMID:18256364 |
RGD:7246909 |
NCBI chr 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521
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G |
Tlr5 |
toll-like receptor 5 |
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IEP |
mRNA:increased expression:renal glomerulus (mouse) |
RGD |
PMID:18256364 |
RGD:7246909 |
NCBI chr 1:182,782,317...182,804,010
Ensembl chr 1:182,782,353...182,804,010
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G |
Tlr6 |
toll-like receptor 6 |
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IEP |
mRNA:increased expression:renal glomerulus (mouse) |
RGD |
PMID:18256364 |
RGD:7246909 |
NCBI chr 5:65,109,373...65,128,387
Ensembl chr 5:65,109,374...65,117,440
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G |
Tlr7 |
toll-like receptor 7 |
|
IEP |
mRNA:increased expression:renal glomerulus (mouse) |
RGD |
PMID:18256364 |
RGD:7246909 |
NCBI chr X:166,086,376...166,113,570
Ensembl chr X:166,087,925...166,113,554
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G |
Tlr8 |
toll-like receptor 8 |
|
IEP |
mRNA:increased expression:renal glomerulus (mouse) |
RGD |
PMID:18256364 |
RGD:7246909 |
NCBI chr X:166,024,119...166,047,325
Ensembl chr X:166,025,692...166,047,325
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G |
Tlr9 |
toll-like receptor 9 |
|
IEP |
mRNA:increased expression:renal glomerulus (mouse) |
RGD |
PMID:18256364 |
RGD:7246909 |
NCBI chr 9:106,099,797...106,104,075
Ensembl chr 9:106,099,797...106,104,082
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G |
Tslp |
thymic stromal lymphopoietin |
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ISO IAGP |
CTD Direct Evidence: marker/mechanism OMIM:305800 |
CTD MouseDO |
PMID:17686814 |
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NCBI chr18:32,948,436...32,952,852
Ensembl chr18:32,948,436...32,952,850
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G |
A2m |
alpha-2-macroglobulin |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:9453001 |
RGD:10046046 |
NCBI chr 6:121,612,920...121,656,197
Ensembl chr 6:121,612,335...121,656,186
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G |
Abca1 |
ATP-binding cassette, sub-family A member 1 |
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ISO |
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RGD |
PMID:12507911 |
RGD:1598547 |
NCBI chr 4:53,030,789...53,159,988
Ensembl chr 4:53,030,787...53,159,895
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G |
Alb |
albumin |
|
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 chr 5:90,608,729...90,624,461
Ensembl chr 5:90,608,756...90,624,461
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G |
Apoa1 |
apolipoprotein A-I |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7900854 |
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NCBI chr 9:46,139,928...46,141,767
Ensembl chr 9:46,139,878...46,141,764
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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 7:19,430,169...19,434,326
Ensembl chr 7:19,430,034...19,433,113
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G |
C3 |
complement component 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:25954969 PMID:10729746 |
RGD:5129563 |
NCBI chr17:57,510,967...57,535,136
Ensembl chr17:57,510,970...57,535,136
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G |
C7 |
complement component 7 |
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ISO |
|
RGD |
PMID:6241952 |
RGD:1599528 |
NCBI chr15:5,017,232...5,093,230
Ensembl chr15:5,018,244...5,093,222
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G |
Cd40 |
CD40 antigen |
treatment |
ISO IMP |
|
RGD |
PMID:23223173 PMID:23223173 |
RGD:8547786, RGD:8547786 |
NCBI chr 2:164,897,535...164,913,574
Ensembl chr 2:164,897,547...164,914,868
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G |
Cd40lg |
CD40 ligand |
treatment |
IMP |
associated with Lupus Erythematosus, Systemic |
RGD |
PMID:17911451 PMID:7564113 |
RGD:7248430, RGD:7248720 |
NCBI chr X:56,257,448...56,269,402
Ensembl chr X:56,257,503...56,269,402
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G |
Cdkn1b |
cyclin dependent kinase inhibitor 1B |
treatment |
ISO |
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RGD |
PMID:24583340 |
RGD:10045363 |
NCBI chr 6:134,897,364...134,902,488
Ensembl chr 6:134,897,364...134,902,476
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G |
Cfb |
complement factor B |
susceptibility |
ISO |
|
RGD |
PMID:3272818 |
RGD:7242764 |
NCBI chr17:35,075,350...35,081,492
Ensembl chr17:35,075,350...35,081,494
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G |
Cfh |
complement component factor h |
|
ISO |
mRNA, protein:increased expression:glomerulus |
RGD |
PMID:12911541 |
RGD:1599888 |
NCBI chr 1:140,013,593...140,111,149
Ensembl chr 1:140,012,446...140,111,502
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G |
Gaa |
glucosidase, alpha, acid |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15466083 |
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NCBI chr11:119,158,789...119,176,284
Ensembl chr11:119,158,713...119,176,280
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G |
H2-Aa |
histocompatibility 2, class II antigen A, alpha |
|
ISO |
DNA:SNP: :rs2187668 (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:11436868 PMID:21323541 |
RGD:5147785 |
NCBI chr17:34,501,718...34,506,797
Ensembl chr17:34,501,718...34,506,797
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G |
H2-Eb1 |
histocompatibility 2, class II antigen E beta |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11436868 |
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NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648
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G |
Il1b |
interleukin 1 beta |
|
ISO |
|
RGD |
PMID:20588061 |
RGD:7175342 |
NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059
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G |
Lrp2 |
low density lipoprotein receptor-related protein 2 |
|
ISO |
mRNA:decreased expression:glomerulus |
RGD |
PMID:10919857 |
RGD:1641827 |
NCBI chr 2:69,254,679...69,416,373
Ensembl chr 2:69,254,684...69,416,409
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G |
Lrpap1 |
low density lipoprotein receptor-related protein associated protein 1 |
|
ISO |
mRNA, protein:increased expression:glomerulus, epithelial cell |
RGD |
PMID:7778686 PMID:7723231 |
RGD:1641937, RGD:1641936 |
NCBI chr 5:35,248,834...35,263,043
Ensembl chr 5:35,248,845...35,263,110
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G |
Map3k5 |
mitogen-activated protein kinase kinase kinase 5 |
|
ISO |
protein:increased activity,protein:renal glomerulus: |
RGD |
PMID:18178252 |
RGD:10412641 |
NCBI chr10:19,809,847...20,018,496
Ensembl chr10:19,810,218...20,018,499
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G |
Mme |
membrane metallo endopeptidase |
|
ISO |
antenatal membranous glomerulonephritis ClinVar Annotator: match by term: Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization |
ClinVar RGD |
PMID:15464186 PMID:24033266 PMID:25565308 PMID:25741868 PMID:26991897 PMID:27588448 PMID:28492532 PMID:30415211 PMID:15464186 More...
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RGD:1600817 |
NCBI chr 3:63,202,632...63,291,134
Ensembl chr 3:63,148,958...63,293,451
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G |
Mmp9 |
matrix metallopeptidase 9 |
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ISO |
|
RGD |
PMID:8613533 |
RGD:8547919 |
NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770
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G |
Nphs1 |
nephrosis 1, nephrin |
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ISO |
|
RGD |
PMID:15882266 |
RGD:1598706 |
NCBI chr 7:30,157,259...30,188,048
Ensembl chr 7:30,157,740...30,186,648
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G |
Nphs2 |
nephrosis 2, podocin |
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ISO |
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RGD |
PMID:15882266 |
RGD:1598706 |
NCBI chr 1:156,138,105...156,155,605
Ensembl chr 1:156,138,297...156,155,605
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G |
Nqo1 |
NAD(P)H dehydrogenase, quinone 1 |
treatment |
ISO |
|
RGD |
PMID:28711658 |
RGD:13439719 |
NCBI chr 8:108,114,856...108,139,012
Ensembl chr 8:108,114,857...108,129,838
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G |
Ptger3 |
prostaglandin E receptor 3 (subtype EP3) |
|
ISO |
mRNA:increased expression:renal cortex (rat) |
RGD |
PMID:14636300 |
RGD:10043359 |
NCBI chr 3:157,272,459...157,350,392
Ensembl chr 3:157,272,529...157,351,525
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G |
Ptpru |
protein tyrosine phosphatase receptor type U |
|
ISO |
mRNA, protein:decreased expression:glomerulus |
RGD |
PMID:17457373 |
RGD:1642654 |
NCBI chr 4:131,495,768...131,565,617
Ensembl chr 4:131,495,768...131,565,599
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G |
Rhoa |
ras homolog family member A |
|
ISO |
protein:increased activity:epithelial cell |
RGD |
PMID:17376765 |
RGD:1642963 |
NCBI chr 9:108,183,359...108,215,142
Ensembl chr 9:108,183,328...108,215,133
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G |
Shh |
sonic hedgehog |
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ISO |
|
RGD |
PMID:24744439 |
RGD:12859042 |
NCBI chr 5:28,661,838...28,672,099
Ensembl chr 5:28,661,813...28,672,254
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G |
Sparc |
secreted acidic cysteine rich glycoprotein |
|
ISO |
protein:increased expression:kidney |
RGD |
PMID:8943481 |
RGD:2300069 |
NCBI chr11:55,284,985...55,310,906
Ensembl chr11:55,285,326...55,314,009
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G |
Tbxas1 |
thromboxane A synthase 1, platelet |
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ISO |
|
RGD |
PMID:8982653 |
RGD:1601473 |
NCBI chr 6:38,817,897...39,061,524
Ensembl chr 6:38,852,338...39,061,519
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G |
Trf |
transferrin |
|
ISO |
associated with Lupus Erythematosus, Systemic |
RGD |
PMID:22328173 |
RGD:7244198 |
NCBI chr 9:103,086,075...103,107,485
Ensembl chr 9:103,081,200...103,107,643
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G |
Tslp |
thymic stromal lymphopoietin |
treatment |
IMP |
|
RGD |
PMID:11920357 |
RGD:38549592 |
NCBI chr18:32,948,436...32,952,852
Ensembl chr18:32,948,436...32,952,850
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G |
Fbn1 |
fibrillin 1 |
|
ISO |
mRNA:increased expression:cortex of kidney |
RGD |
PMID:25482639 |
RGD:12910487 |
NCBI chr 2:125,142,514...125,348,417
Ensembl chr 2:125,142,514...125,349,913
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G |
Fgfr1 |
fibroblast growth factor receptor 1 |
|
ISO |
mRNA:increased expression:mesangial cell |
RGD |
PMID:10592054 |
RGD:10402100 |
NCBI chr 8:26,008,808...26,067,819
Ensembl chr 8:26,003,670...26,065,734
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G |
Gadd45g |
growth arrest and DNA-damage-inducible 45 gamma |
|
ISO |
mRNA,protein:increased expression:kidney |
RGD |
PMID:16736195 |
RGD:14700866 |
NCBI chr13:52,000,711...52,002,511
Ensembl chr13:52,000,714...52,002,504
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G |
Itga8 |
integrin alpha 8 |
|
ISO |
mRNA:increased expression:cortex of kidney |
RGD |
PMID:25482639 |
RGD:12910487 |
NCBI chr 2:12,111,443...12,306,755
Ensembl chr 2:12,111,443...12,306,733
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G |
Itgam |
integrin alpha M |
exacerbates |
ISO |
|
RGD |
PMID:10623679 |
RGD:329901927 |
NCBI chr 7:127,661,812...127,717,663
Ensembl chr 7:127,661,812...127,717,663
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|
G |
Nr4a1 |
nuclear receptor subfamily 4, group A, member 1 |
|
ISO |
mRNA,protein:increased expression:kidney |
RGD |
PMID:16736195 |
RGD:14700866 |
NCBI chr15:101,151,783...101,172,676
Ensembl chr15:101,152,150...101,172,676
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|
G |
Pdgfd |
platelet-derived growth factor, D polypeptide |
treatment |
ISO |
mRNA,protein:increased expression:glomerulus,serum: |
RGD |
PMID:17308324 PMID:12937299 |
RGD:9854629, RGD:9854637 |
NCBI chr 9:6,168,377...6,534,284
Ensembl chr 9:6,168,584...6,378,850
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G |
Rapgef1 |
Rap guanine nucleotide exchange factor (GEF) 1 |
|
ISO |
protein:increased expression:renal glomerulus |
RGD |
PMID:20725139 |
RGD:11534982 |
NCBI chr 2:29,509,732...29,630,376
Ensembl chr 2:29,509,732...29,630,990
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G |
Vwf |
Von Willebrand factor |
|
ISO |
protein:increased expression:glomerulus: |
RGD |
PMID:10450036 |
RGD:11079208 |
NCBI chr 6:125,529,911...125,663,642
Ensembl chr 6:125,523,737...125,663,642
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G |
Anxa5 |
annexin A5 |
|
ISO |
protein:increased expression:urine |
RGD |
PMID:17999093 |
RGD:7242031 |
NCBI chr 3:36,503,072...36,530,036
Ensembl chr 3:36,503,072...36,530,043
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G |
Avil |
advillin |
|
ISO |
ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome |
ClinVar |
PMID:25741868 PMID:29058690 |
|
NCBI chr10:126,835,933...126,856,857
Ensembl chr10:126,836,578...126,856,863
|
|
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 1:156,157,985...156,248,743
Ensembl chr 1:156,151,079...156,248,729
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Col4a3 |
collagen, type IV, alpha 3 |
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ISO |
ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 1:82,564,647...82,699,778
Ensembl chr 1:82,564,642...82,699,780
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G |
Col4a4 |
collagen, type IV, alpha 4 |
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ISO |
ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 1:82,426,140...82,564,570
Ensembl chr 1:82,426,144...82,564,570
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G |
Col4a5 |
collagen, type IV, alpha 5 |
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ISO |
ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome |
ClinVar |
PMID:32581362 |
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NCBI chr X:140,258,367...140,472,232
Ensembl chr X:140,258,381...140,472,230
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G |
Crb2 |
crumbs family member 2 |
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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 2:37,666,238...37,689,115
Ensembl chr 2:37,666,261...37,689,115
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G |
Fat1 |
FAT atypical cadherin 1 |
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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 chr 8:45,386,137...45,505,294
Ensembl chr 8:45,388,484...45,505,294
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G |
Nphs2 |
nephrosis 2, podocin |
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ISO |
ClinVar Annotator: match by term: NPHS2-related condition | ClinVar Annotator: match by term: Nephrotic syndrome, type 2 | ClinVar Annotator: match by term: Nephrotic syndrome, type 2, susceptibility to | ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:1523708 PMID:8589695 PMID:8606597 PMID:9536098 PMID:10742096 PMID:11729243 PMID:11733557 PMID:11805166 PMID:11805168 PMID:11854170 PMID:12446471 PMID:12464671 PMID:12608558 PMID:12644922 PMID:12649741 PMID:12707396 PMID:12776285 PMID:14570703 PMID:14675423 PMID:14701729 PMID:14978175 PMID:15015071 PMID:15042551 PMID:15059485 PMID:15253708 PMID:15264208 PMID:15322893 PMID:15327385 PMID:15496146 PMID:15504144 PMID:15769810 PMID:15780077 PMID:15817495 PMID:15954915 PMID:15968559 PMID:16199547 PMID:16286890 PMID:16291839 PMID:16354237 PMID:16481888 PMID:16721582 PMID:16810518 PMID:16898497 PMID:16900088 PMID:17109732 PMID:17216259 PMID:17218332 PMID:17371932 PMID:17576681 PMID:17699384 PMID:17899208 PMID:17942957 PMID:18216321 PMID:18380020 PMID:18443213 PMID:18499321 PMID:18596732 PMID:18683072 PMID:18709391 PMID:18726620 PMID:18823551 PMID:19067903 PMID:19145239 PMID:19268410 PMID:19371226 PMID:19406966 PMID:19520069 PMID:19674119 PMID:19812541 PMID:19876656 PMID:20001346 PMID:20333530 PMID:20507940 PMID:20798252 PMID:20947785 PMID:21125408 PMID:21171529 PMID:21355056 PMID:21415313 PMID:21636722 PMID:21722858 PMID:22228437 PMID:22565185 PMID:22578956 PMID:22763815 PMID:23013956 PMID:23242530 PMID:23349334 PMID:23515051 PMID:23595123 PMID:23645318 PMID:23800802 PMID:23913389 PMID:24033266 PMID:24072147 PMID:24089165 PMID:24227627 PMID:24413855 PMID:24500309 PMID:24509478 PMID:24511133 PMID:24596097 PMID:24715228 PMID:24742477 PMID:24856380 PMID:24969201 PMID:25060053 PMID:25349199 PMID:25525159 PMID:25573908 PMID:25599733 PMID:25720465 PMID:25741868 PMID:25852895 PMID:25903641 PMID:26138234 PMID:26211502 PMID:26413278 PMID:26420286 PMID:26455708 PMID:26467025 PMID:26467726 PMID:26594346 PMID:26668027 PMID:26820844 PMID: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 1:156,138,105...156,155,605
Ensembl chr 1:156,138,297...156,155,605
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Nr3c1 |
nuclear receptor subfamily 3, group C, member 1 |
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ISO |
mRNA:alternative form:blood, mononuclear cell |
RGD |
PMID:20419394 |
RGD:7174729 |
NCBI chr18:39,543,598...39,652,485
Ensembl chr18:39,543,598...39,652,474
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Nup205 |
nucleoporin 205 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26878725 |
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NCBI chr 6:35,154,551...35,224,534
Ensembl chr 6:35,154,356...35,224,531
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Nup93 |
nucleoporin 93 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26878725 |
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NCBI chr 8:94,941,203...95,043,858
Ensembl chr 8:94,941,192...95,043,855
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Pax2 |
paired box 2 |
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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 chr19:44,735,040...44,826,708
Ensembl chr19:44,735,057...44,826,310
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Pla2g7 |
phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma) |
disease_progression |
ISO |
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RGD |
PMID:9853251 |
RGD:7248793 |
NCBI chr17:43,879,009...43,923,093
Ensembl chr17:43,878,989...43,923,092
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Plce1 |
phospholipase C, epsilon 1 |
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ISO |
DNA:mutations: : |
RGD |
PMID:20591883 |
RGD:7257521 |
NCBI chr19:38,469,438...38,773,549
Ensembl chr19:38,469,557...38,773,474
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Smarcal1 |
SNF2 related chromatin remodeling ATPase like 1 |
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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 | |