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 |
susceptibility |
ISO |
associated with Purpura, Schoenlein-Henoch;DNA:polymorphisms,haplotype: :-240A>T,2350A>G (human) |
RGD |
PMID:22895845 |
RGD:11533935 |
NCBI chr10:91,410,129...91,430,246
Ensembl chr10:90,910,316...90,931,131
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Agtr1a |
angiotensin II receptor, type 1a |
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IMP |
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RGD |
PMID:12077487 |
RGD:6903864 |
NCBI chr17:34,383,397...34,435,523
Ensembl chr17:34,174,429...34,226,946
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Alb |
albumin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:161594 PMID:2945356 PMID:3656695 PMID:4065304 PMID:9380243 PMID:16326737 More...
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NCBI chr14:17,891,564...17,907,043
Ensembl chr14:17,607,381...17,622,836
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Bdkrb1 |
bradykinin receptor B1 |
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ISO |
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RGD |
PMID:18809736 |
RGD:7241554 |
NCBI chr 6:130,275,631...130,284,968
Ensembl chr 6:124,510,870...124,513,747
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Casp8 |
caspase 8 |
treatment |
IEP |
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RGD |
PMID:28039298 |
RGD:13782307 |
NCBI chr 9:67,747,109...67,806,699
Ensembl chr 9:60,264,075...60,312,542
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Ccl2 |
C-C motif chemokine ligand 2 |
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ISO |
associated with Purpura, Schoenlein-Henoch;protein:increased expression:urine (human) |
RGD |
PMID:24414608 |
RGD:11528565 |
NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,005,424...67,007,226
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Ccl3 |
C-C motif chemokine ligand 3 |
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IEP |
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RGD |
PMID:21370451 |
RGD:7175323 |
NCBI chr10:68,948,889...68,950,439
Ensembl chr10:68,451,388...68,452,938
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Ccnd2 |
cyclin D2 |
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IEP |
mRNA:increased expression:kidney cortex |
RGD |
PMID:15654821 |
RGD:2289180 |
NCBI chr 4:161,653,048...161,675,422
Ensembl chr 4:159,962,363...159,989,495
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Ccr5 |
C-C motif chemokine receptor 5 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26055553 |
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NCBI chr 8:132,629,097...132,660,980
Ensembl chr 8:123,752,325...123,759,260
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Cxcr2 |
C-X-C motif chemokine receptor 2 |
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IMP |
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RGD |
PMID:11313419 |
RGD:7257685 |
NCBI chr 9:83,178,645...83,185,017
Ensembl chr 9:75,729,115...75,739,425
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Cyp1a1 |
cytochrome P450, family 1, subfamily a, polypeptide 1 |
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ISO |
mRNA, protein:increased expression:kidney |
RGD |
PMID:21907489 |
RGD:7175305 |
NCBI chr 8:66,991,940...66,998,014
Ensembl chr 8:58,096,077...58,102,125
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Cyp2j4 |
cytochrome P450, family 2, subfamily j, polypeptide 4 |
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IMP |
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RGD |
PMID:25840911 |
RGD:12904676 |
NCBI chr 5:116,295,691...116,323,219
Ensembl chr 5:111,178,703...111,244,794
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Cyp2j4em1Sage |
cytochrome P450, family 2, subfamily j, polypeptide 4, ZFN induced mutant 1, Sage |
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IMP |
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RGD |
PMID:25840911 |
RGD:12904676 |
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Edn1 |
endothelin 1 |
treatment |
IEP |
mRNA, protein:increased expression:multiple (rat) |
RGD |
PMID:9176845 |
RGD:8662324 |
NCBI chr17:22,660,799...22,666,687
Ensembl chr17:22,454,420...22,460,885
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Fas |
Fas cell surface death receptor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26590112 |
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NCBI chr 1:241,212,155...241,245,774
Ensembl chr 1:231,798,960...231,832,591
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Fcgr3a |
Fc gamma receptor 3A |
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ISO |
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RGD |
PMID:16520389 |
RGD:5508402 |
NCBI chr13:85,782,636...85,792,656
Ensembl chr13:83,249,872...83,259,921
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Foxc2 |
forkhead box C2 |
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ISO |
DNA:insertion:1006insA |
RGD |
PMID:15523639 |
RGD:1601217 |
NCBI chr19:66,094,718...66,097,420
Ensembl chr19:49,185,662...49,188,737
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Icam1 |
intercellular adhesion molecule 1 |
treatment |
IMP |
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RGD |
PMID:8773354 |
RGD:8547716 |
NCBI chr 8:27,829,688...27,841,618
Ensembl chr 8:19,553,645...19,565,438
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Ifng |
interferon gamma |
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ISO |
associated with bacterial infection;protein:increased expression:serum |
RGD |
PMID:22752353 |
RGD:6893461 |
NCBI chr 7:55,789,180...55,793,216
Ensembl chr 7:53,903,337...53,907,375
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Il4 |
interleukin 4 |
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IEP |
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RGD |
PMID:7967345 |
RGD:5128564 |
NCBI chr10:38,272,003...38,277,549
Ensembl chr10:37,771,203...37,776,750
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Itga4 |
integrin subunit alpha 4 |
treatment |
IMP |
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RGD |
PMID:9773789 |
RGD:9698422 |
NCBI chr 3:84,569,487...84,646,276
Ensembl chr 3:64,163,085...64,233,715
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Itgal |
integrin subunit alpha L |
treatment |
IMP |
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RGD |
PMID:8773354 |
RGD:8547716 |
NCBI chr 1:191,348,424...191,386,228
Ensembl chr 1:181,918,183...181,955,732
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Itgam |
integrin subunit alpha M |
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ISO |
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RGD |
PMID:21900205 |
RGD:7207258 |
NCBI chr 1:192,089,496...192,139,947
Ensembl chr 1:182,659,000...182,709,503
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Itgb2 |
integrin subunit beta 2 |
treatment |
IMP |
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RGD |
PMID:8773354 |
RGD:8547716 |
NCBI chr20:11,061,009...11,097,242
Ensembl chr20:11,061,430...11,097,600
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Lepr |
leptin receptor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29988851 |
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NCBI chr 5:121,409,735...121,593,201
Ensembl chr 5:116,289,823...116,475,908
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Lgals1 |
galectin 1 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:11044214 |
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NCBI chr 7:112,365,695...112,368,801
Ensembl chr 7:110,481,392...110,488,345
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Lgals3 |
galectin 3 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:11044214 |
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NCBI chr15:23,099,795...23,111,731
Ensembl chr15:20,607,692...20,632,025
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Lgals9 |
galectin 9 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:11044214 |
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NCBI chr10:64,405,044...64,428,249
Ensembl chr10:63,907,018...63,930,045
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Mt-atp8 |
mitochondrially encoded ATP synthase membrane subunit 8 |
susceptibility |
ISO |
DNA:transversion: :m.7778G>T (mouse) |
RGD |
PMID:19759059 |
RGD:5490297 |
Ensembl chr MT:7,758...7,961
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Mtor |
mechanistic target of rapamycin kinase |
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ISO |
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RGD |
PMID:22696604 |
RGD:7245508 |
NCBI chr 5:164,167,985...164,277,438
Ensembl chr 5:158,884,804...158,994,311
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G |
Nos3 |
nitric oxide synthase 3 |
susceptibility |
ISO |
associated with Purpura, Schoenlein-Henoch;DNA:polymorphisms,haplotype: :894G>T,-786T>C (human) |
RGD |
PMID:22895845 |
RGD:11533935 |
NCBI chr 4:11,686,088...11,706,604
Ensembl chr 4:10,793,834...10,814,166
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Parp1 |
poly (ADP-ribose) polymerase 1 |
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ISO |
associated with Lupus Erythematosus, Systemic;DNA:SNPs:promoter, exon:-1963A>G, 28077G>A (human) |
RGD |
PMID:16461442 |
RGD:1601085 |
NCBI chr13:94,839,484...94,871,295
Ensembl chr13:92,307,586...92,339,404
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Plau |
plasminogen activator, urokinase |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:12671112 |
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NCBI chr15:3,505,485...3,511,987
Ensembl chr15:3,456,232...3,462,775
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Ptk2 |
protein tyrosine kinase 2 |
treatment |
IDA |
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RGD |
PMID:25176084 |
RGD:10041073 |
NCBI chr 7:107,015,730...107,220,865
Ensembl chr 7:105,126,728...105,331,783
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Ptk2b |
protein tyrosine kinase 2 beta |
treatment |
IDA |
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RGD |
PMID:25176084 |
RGD:10041073 |
NCBI chr15:44,536,275...44,656,754
Ensembl chr15:40,360,723...40,481,282
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Serpinb7 |
serpin family B member 7 |
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IEP |
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RGD |
PMID:11473647 |
RGD:70611 |
NCBI chr13:23,884,466...23,956,834
Ensembl chr13:23,395,671...23,442,205
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G |
Smad6 |
SMAD family member 6 |
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IEP |
mRNA:decreased expression:kidney |
RGD |
PMID:11170839 |
RGD:2315074 |
NCBI chr 8:73,345,457...73,414,985
Ensembl chr 8:64,450,114...64,519,763
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Smad7 |
SMAD family member 7 |
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IEP |
mRNA:decreased expression:kidney |
RGD |
PMID:11170839 |
RGD:2315074 |
NCBI chr18:71,263,508...71,291,849
Ensembl chr18:68,988,429...69,016,765
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Snrpd1 |
small nuclear ribonucleoprotein D1 polypeptide |
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IDA |
associated with Lupus Erythematosus, Systemic in humans |
RGD |
PMID:11771960 |
RGD:10755697 |
NCBI chr18:1,969,351...1,980,207
Ensembl chr18:1,696,852...1,708,256
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G |
Cxcr2 |
C-X-C motif chemokine receptor 2 |
susceptibility |
ISO |
DNA:polymorphism: :1208C>T (human) |
RGD |
PMID:22325052 |
RGD:7207860 |
NCBI chr 9:83,178,645...83,185,017
Ensembl chr 9:75,729,115...75,739,425
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Rbp4 |
retinol binding protein 4 |
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ISO |
protein:decreased expression:blood plasma (human) |
RGD |
PMID:20163326 |
RGD:329853301 |
NCBI chr 1:245,306,349...245,313,551
Ensembl chr 1:235,893,917...235,901,399
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Apoa1 |
apolipoprotein A1 |
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ISO |
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RGD |
PMID:22659101 |
RGD:7241207 |
NCBI chr 8:55,423,945...55,425,729
Ensembl chr 8:46,527,144...46,529,035
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Tlr2 |
toll-like receptor 2 |
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ISO |
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RGD |
PMID:22194975 |
RGD:7207900 |
NCBI chr 2:171,499,189...171,504,831
Ensembl chr 2:169,197,419...169,206,630
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Tlr4 |
toll-like receptor 4 |
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ISO |
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RGD |
PMID:22194975 |
RGD:7207900 |
NCBI chr 5:85,161,247...85,174,882
Ensembl chr 5:80,145,826...80,159,628
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Cldn14 |
claudin 14 |
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ISO |
ClinVar Annotator: match by term: Alport syndrome |
ClinVar |
PMID:30311386 |
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NCBI chr11:46,701,940...46,799,049
Ensembl chr11:33,232,220...33,329,171
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Col4a3 |
collagen type IV alpha 3 chain |
susceptibility |
ISO |
DNA:deletion, nonsense mutations ClinVar Annotator: match by term: Alport syndrome | ClinVar Annotator: match by term: Congenital hereditary hematuria CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:1400291 PMID:2557550 PMID:7780062 PMID:7987301 PMID:7987396 PMID:8956999 PMID:9195222 PMID:9269635 PMID:9536098 PMID:9724608 PMID:11044206 PMID:11134255 PMID:11961012 PMID:12028435 PMID:12631109 PMID:14582039 PMID:14871398 PMID:15086897 PMID:15618242 PMID:15880327 PMID:15954103 PMID:16199547 PMID:17216251 PMID:17576681 PMID:18385178 PMID:18436078 PMID:19525337 PMID:20301386 PMID:20847057 PMID:21157337 PMID:21862460 PMID:21897443 PMID:22887978 PMID:23297803 PMID:23325022 PMID:23927549 PMID:23967202 PMID:24033266 PMID:24033287 PMID:24052634 PMID:24130771 PMID:24633401 PMID:24854265 PMID:24944784 PMID:25229338 PMID:25307543 PMID:25407002 PMID:25450602 PMID:25514610 PMID:25575550 PMID:25596306 PMID:25741868 PMID:25888712 PMID:26277931 PMID:26346198 PMID:26411580 PMID:26467025 PMID:26795916 PMID:26809805 PMID:26934356 PMID:26940125 PMID:27281700 PMID:27391953 PMID:27485810 PMID:27627812 PMID:27859054 PMID:27932480 PMID:28117080 PMID:28492532 PMID:28542346 PMID:28570636 PMID:28632965 PMID:28658201 PMID:28780565 PMID:28968992 PMID:29098738 PMID:29127259 PMID:29204651 PMID:29270492 PMID:29271581 PMID:29644057 PMID:29742505 PMID:29801666 PMID:29854973 PMID:29924831 PMID:29946535 PMID:30076350 PMID:30245029 PMID:30295827 PMID:30311386 PMID:30406062 PMID:30450445 PMID:30476138 PMID:30487145 PMID:30506145 PMID:30586318 PMID:30647093 PMID:30661074 PMID:30773290 PMID:30819905 PMID:30881523 PMID:30883042 PMID:31027891 PMID:31130284 PMID:31256874 PMID:31306228 PMID:31328266 PMID:31477057 PMID:31625567 PMID:31738409 PMID:31865346 PMID:32359821 PMID:32647767 PMID:32703181 PMID:32723786 PMID:32860008 PMID:32887937 PMID:32939031 PMID:33040356 PMID:33179747 PMID:33226606 PMID:33229591 PMID:33369211 PMID:33532864 PMID:33712733 PMID:33772369 PMID:33774048 PMID:33838161 PMID:33854215 PMID:33980730 PMID:34013111 PMID:34215756 PMID:34400539 PMID:34426522 PMID:34440452 PMID:34662886 PMID:34746741 PMID:34906502 PMID:35090027 PMID:35102923 PMID:35177655 PMID:35301649 PMID:35325889 PMID:35369551 PMID:35372954 PMID:35386907 PMID:35880347 PMID:36013122 PMID:36100708 PMID:36117978 PMID:36130833 PMID:36134775 PMID:36292665 PMID:36925663 PMID:36938085 PMID:37097554 PMID:37362409 PMID:37849993 PMID:38214412 PMID:7987301 More...
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RGD:1600924 |
NCBI chr 9:91,323,990...91,453,088
Ensembl chr 9:83,875,561...84,001,895
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Col4a4 |
collagen type IV alpha 4 chain |
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ISO |
ClinVar Annotator: match by term: Alport syndrome | ClinVar Annotator: match by term: Congenital hereditary hematuria | ClinVar Annotator: match by term: Disease of glomerular basement membrane |
ClinVar |
PMID:1721625 PMID:3385421 PMID:9536098 PMID:9792860 PMID:11134255 PMID:11685592 PMID:11961012 PMID:12028435 PMID:12325029 PMID:12631110 PMID:14582039 PMID:14871398 PMID:15618242 PMID:15880327 PMID:16199547 PMID:16338941 PMID:16467446 PMID:17216251 PMID:17396119 PMID:17576681 PMID:17942953 PMID:19129241 PMID:19675380 PMID:20029656 PMID:20301386 PMID:21196518 PMID:21897443 PMID:22887978 PMID:23349334 PMID:23967202 PMID:24033266 PMID:24033287 PMID:24046192 PMID:24052634 PMID:24130771 PMID:24472419 PMID:24522496 PMID:24633401 PMID:24854265 PMID:25229338 PMID:25307543 PMID:25381091 PMID:25514610 PMID:25575550 PMID:25596306 PMID:25741868 PMID:25755845 PMID:26346198 PMID:26467025 PMID:26809805 PMID:26934356 PMID:27281700 PMID:27365461 PMID:27859054 PMID:27884173 PMID:28059119 PMID:28117080 PMID:28476686 PMID:28492532 PMID:28542346 PMID:28632965 PMID:28658201 PMID:28704582 PMID:28780565 PMID:28844315 PMID:28968992 PMID:28976722 PMID:29098738 PMID:29204651 PMID:29496980 PMID:29801666 PMID:29854973 PMID:29907799 PMID:29924831 PMID:30076350 PMID:30406062 PMID:30450445 PMID:30506145 PMID:30586318 PMID:30647093 PMID:30745910 PMID:30808327 PMID:30883042 PMID:30968591 PMID:31019026 PMID:31049720 PMID:31246743 PMID:31328266 PMID:31387071 PMID:31408864 PMID:31589614 PMID:31922066 PMID:32332277 PMID:32604935 PMID:32703181 PMID:32939031 PMID:33048202 PMID:33095447 PMID:33233744 PMID:33532864 PMID:33772369 PMID:33838161 PMID:33854215 PMID:34400539 PMID:34448697 PMID:34584596 PMID:34625929 PMID:34746741 PMID:34993602 PMID:35064937 PMID:35090027 PMID:35114279 PMID:35121647 PMID:35368817 PMID:35369551 PMID:35419377 PMID:35478268 PMID:35759000 PMID:36130833 PMID:36161695 PMID:36239278 PMID:36349777 PMID:36370330 PMID:36646731 PMID:36685964 PMID:36699462 PMID:36758113 PMID:36925663 PMID:37097554 PMID:37147621 PMID:37895203 PMID:38317457 More...
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NCBI chr 9:91,281,324...91,323,577
Ensembl chr 9:83,755,515...83,875,876
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Col4a5 |
collagen type IV alpha 5 chain |
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ISO |
Alport Syndrome, OMIM:301050, DNA:deletion:exons ClinVar Annotator: match by term: Alport syndrome | ClinVar Annotator: match by term: Congenital hereditary hematuria | ClinVar Annotator: match by term: Disease of glomerular basement membrane |
ClinVar RGD |
PMID:2349482 PMID:7599631 PMID:7695699 PMID:8218237 PMID:8455372 PMID:8651292 PMID:8651296 PMID:8940267 PMID:9195222 PMID:9848783 PMID:10094548 PMID:10563487 PMID:10752524 PMID:11223851 PMID:12028435 PMID:12105244 PMID:12796257 PMID:14514738 PMID:15044104 PMID:15780079 PMID:15954103 PMID:17396119 PMID:18083113 PMID:18343956 PMID:19344236 PMID:19728970 PMID:19919694 PMID:19965530 PMID:20301386 PMID:20378821 PMID:21332469 PMID:21505094 PMID:21688191 PMID:23144074 PMID:23572034 PMID:23720012 PMID:24033287 PMID:24046192 PMID:24077912 PMID:24130771 PMID:24304881 PMID:24470729 PMID:24854265 PMID:25525159 PMID:25572247 PMID:25741868 PMID:26063487 PMID:26467025 PMID:26809805 PMID:26934356 PMID:27627812 PMID:28492532 PMID:28542346 PMID:28844315 PMID:28864840 PMID:29127259 PMID:29142990 PMID:29526710 PMID:29854973 PMID:30348286 PMID:30577881 PMID:30586318 PMID:30647093 PMID:30655312 PMID:30661074 PMID:30691124 PMID:30773290 PMID:30968591 PMID:31850286 PMID:31922066 PMID:32359821 PMID:32405592 PMID:33040356 PMID:33226606 PMID:33233744 PMID:33309955 PMID:33532864 PMID:33854215 PMID:34008892 PMID:34440452 PMID:35022790 PMID:35643372 PMID:36685964 PMID:37464296 PMID:38680391 PMID:2349482 More...
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RGD:1600687 |
NCBI chr X:109,907,251...110,111,214
Ensembl chr X:105,118,820...105,322,692
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Il1b |
interleukin 1 beta |
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ISO |
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RGD |
PMID:22937108 |
RGD:7175090 |
NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:116,577,010...116,583,415
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Mmp12 |
matrix metallopeptidase 12 |
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ISO |
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RGD |
PMID:16816359 |
RGD:7241212 |
NCBI chr 8:12,866,652...12,876,554
Ensembl chr 8:4,581,785...4,599,611
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G |
Mmp3 |
matrix metallopeptidase 3 |
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ISO |
protein:increased expression:kidney |
RGD |
PMID:16509766 |
RGD:7241252 |
NCBI chr 8:12,925,267...12,938,828
Ensembl chr 8:4,640,416...4,653,961
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G |
Myh9 |
myosin, heavy chain 9 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10973259 |
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NCBI chr 7:111,224,291...111,304,963
Ensembl chr 7:109,343,706...109,424,457
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G |
Myo15a |
myosin XVA |
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ISO |
ClinVar Annotator: match by term: Alport syndrome |
ClinVar |
PMID:28492532 PMID:30311386 |
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NCBI chr10:45,776,907...45,835,473
Ensembl chr10:45,278,737...45,335,340
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G |
RT1-Db1 |
RT1 class II, locus Db1 |
susceptibility |
ISO |
DNA:polymorphism: :HLA-DRB1*16 (human) |
RGD |
PMID:15182324 |
RGD:7365078 |
NCBI chr20:4,550,594...4,560,182
Ensembl chr20:4,548,666...4,558,258
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Agt |
angiotensinogen |
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IEP |
protein:increased expression:kidney, urine mRNA, protein:increased expression:liver, plasma |
RGD |
PMID:21282555 PMID:7550093 |
RGD:5129185, RGD:11039051 |
NCBI chr19:69,426,540...69,447,017
Ensembl chr19:52,529,185...52,540,977
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G |
Agtr1a |
angiotensin II receptor, type 1a |
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IEP |
protein:increased expression:kidney |
RGD |
PMID:21282555 |
RGD:5129185 |
NCBI chr17:34,383,397...34,435,523
Ensembl chr17:34,174,429...34,226,946
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G |
Bax |
BCL2 associated X, apoptosis regulator |
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IEP |
mRNA, protein:increased expression:kidney |
RGD |
PMID:12234300 |
RGD:1579984 |
NCBI chr 1:105,076,472...105,081,906
Ensembl chr 1:95,938,808...95,945,368
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G |
Bcl2 |
BCL2, apoptosis regulator |
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IEP |
mRNA, protein:decreased expression:kidney |
RGD |
PMID:12234300 |
RGD:1579984 |
NCBI chr13:23,204,464...23,366,900
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
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G |
Ccl17 |
C-C motif chemokine ligand 17 |
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IEP |
mRNA:increased expression:glomerulus |
RGD |
PMID:20071465 |
RGD:4145614 |
NCBI chr19:10,208,120...10,218,340
Ensembl chr19:10,202,128...10,203,819
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G |
Ccl2 |
C-C motif chemokine ligand 2 |
treatment |
IEP IDA |
mRNA:increased expression:glomerulus |
RGD |
PMID:17898087 PMID:20071465 PMID:21894146 |
RGD:2307059, RGD:4145614, RGD:6218988 |
NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,005,424...67,007,226
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G |
Ccl22 |
C-C motif chemokine ligand 22 |
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IMP |
mRNA, protein:increased expression:glomerulus |
RGD |
PMID:12651599 |
RGD:2306306 |
NCBI chr19:10,263,589...10,270,359
Ensembl chr19:10,257,601...10,264,400
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G |
Ccl4 |
C-C motif chemokine ligand 4 |
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IEP |
mRNA:increased expression:glomerulus |
RGD |
PMID:17898087 |
RGD:2307059 |
NCBI chr10:68,963,893...68,965,728
Ensembl chr10:68,452,052...68,468,231
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G |
Ccl5 |
C-C motif chemokine ligand 5 |
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IEP |
mRNA:increased expression:glomerulus |
RGD |
PMID:17898087 |
RGD:2307059 |
NCBI chr10:68,820,330...68,824,906
Ensembl chr10:68,322,829...68,327,377
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G |
Cd274 |
CD274 molecule |
treatment |
ISO |
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RGD |
PMID:21965585 |
RGD:7248671 |
NCBI chr 1:236,526,215...236,549,956
Ensembl chr 1:227,116,649...227,134,450
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G |
Cd40 |
CD40 molecule |
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ISO |
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RGD |
PMID:15210767 |
RGD:7248442 |
NCBI chr 3:174,209,113...174,224,592
Ensembl chr 3:153,790,449...153,805,534
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G |
Cd40lg |
CD40 ligand |
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IMP |
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RGD |
PMID:15458437 |
RGD:5508170 |
NCBI chr X:140,164,341...140,176,057
Ensembl chr X:135,126,969...135,138,306
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G |
Cd80 |
Cd80 molecule |
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IMP |
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RGD |
PMID:10712436 |
RGD:6902936 |
NCBI chr11:75,760,073...75,798,978
Ensembl chr11:62,254,624...62,292,030
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G |
Cfb |
complement factor B |
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ISO |
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RGD |
PMID:22492944 |
RGD:7242700 |
NCBI chr20:3,975,271...3,981,138
Ensembl chr20:3,951,474...3,976,505
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G |
Clu |
clusterin |
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IEP |
protein:increased expression:urine |
RGD |
PMID:23791361 |
RGD:9068422 |
NCBI chr15:44,336,619...44,375,861
Ensembl chr15:40,174,617...40,200,315
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G |
Csf1 |
colony stimulating factor 1 |
treatment |
IDA |
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RGD |
PMID:19242505 |
RGD:7257569 |
NCBI chr 2:198,065,400...198,084,774
Ensembl chr 2:195,377,215...195,411,704
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G |
Csf1r |
colony stimulating factor 1 receptor |
treatment ameliorates |
IDA IMP |
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RGD |
PMID:19242505 PMID:21519331 |
RGD:7257569, RGD:151665824 |
NCBI chr18:56,834,152...56,860,804
Ensembl chr18:54,546,659...54,590,415
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G |
Ctla4 |
cytotoxic T-lymphocyte-associated protein 4 |
treatment |
ISO |
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RGD |
PMID:10712436 PMID:8206086 PMID:10712436 |
RGD:6902936, RGD:11352257, RGD:6902936 |
NCBI chr 9:69,812,859...69,819,959
Ensembl chr 9:62,319,312...62,324,963
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G |
Cx3cl1 |
C-X3-C motif chemokine ligand 1 |
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IEP |
mRNA, protein:increased expression:glomerulus |
RGD |
PMID:19590241 |
RGD:4891946 |
NCBI chr19:10,233,326...10,244,856
Ensembl chr19:10,227,340...10,236,833
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G |
Cx3cr1 |
C-X3-C motif chemokine receptor 1 |
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IEP |
mRNA, protein:increased expression:glomerulus |
RGD |
PMID:19590241 |
RGD:4891946 |
NCBI chr 8:128,661,294...128,679,048
Ensembl chr 8:119,782,595...119,800,014
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G |
Cxcl12 |
C-X-C motif chemokine ligand 12 |
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IEP |
mRNA:increased expression:glomerulus |
RGD |
PMID:17557270 |
RGD:2306579 |
NCBI chr 4:152,060,781...152,073,628
Ensembl chr 4:150,388,325...150,401,168
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G |
Dusp1 |
dual specificity phosphatase 1 |
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IEP |
mRNA:increased expression:glomerulus |
RGD |
PMID:8587253 |
RGD:633769 |
NCBI chr10:17,184,853...17,187,646
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G |
Fcgr3a |
Fc gamma receptor 3A |
no_association |
ISO |
DNA:cnv: : DNA:polymorphism:exon:(rs396991)(human) |
RGD |
PMID:19946017 PMID:19640933 |
RGD:5508400, RGD:5508403 |
NCBI chr13:85,782,636...85,792,656
Ensembl chr13:83,249,872...83,259,921
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G |
Gp6 |
glycoprotein VI |
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ISO |
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RGD |
PMID:20651232 |
RGD:7242710 |
NCBI chr 1:78,471,900...78,535,374
Ensembl chr 1:69,465,789...69,491,326
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G |
Il10 |
interleukin 10 |
treatment |
IDA |
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RGD |
PMID:23826305 |
RGD:7365004 |
NCBI chr13:45,024,921...45,029,586
Ensembl chr13:42,472,839...42,477,313
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G |
Il17a |
interleukin 17A |
treatment |
IDA |
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RGD |
PMID:23826305 |
RGD:7365004 |
NCBI chr 9:30,640,844...30,644,331
Ensembl chr 9:23,144,402...23,147,889
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G |
Il18 |
interleukin 18 |
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ISO |
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RGD |
PMID:22046355 |
RGD:6893447 |
NCBI chr 8:59,802,072...59,829,275
Ensembl chr 8:50,906,960...50,932,887
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G |
Il1b |
interleukin 1 beta |
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ISO IEP |
mRNA:increased expression:kidney (mouse) mRNA, protein:increased expression:kidney |
RGD |
PMID:22046355 PMID:9198037 |
RGD:6893447, RGD:7401232 |
NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:116,577,010...116,583,415
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G |
Il1rn |
interleukin 1 receptor antagonist |
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IDA |
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RGD |
PMID:20071465 |
RGD:4145614 |
NCBI chr 3:27,509,836...27,525,738
Ensembl chr 3:7,111,550...7,127,445
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G |
Il4 |
interleukin 4 |
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IMP IDA |
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RGD |
PMID:9350645 PMID:17898087 |
RGD:2317673, RGD:2307059 |
NCBI chr10:38,272,003...38,277,549
Ensembl chr10:37,771,203...37,776,750
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G |
Itga4 |
integrin subunit alpha 4 |
treatment |
IDA IMP |
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RGD |
PMID:9032136 PMID:7679412 |
RGD:2308810, RGD:9698425 |
NCBI chr 3:84,569,487...84,646,276
Ensembl chr 3:64,163,085...64,233,715
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G |
Mapk14 |
mitogen activated protein kinase 14 |
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IEP |
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RGD |
PMID:21894146 |
RGD:6218988 |
NCBI chr20:6,751,288...6,812,294
Ensembl chr20:6,749,670...6,810,589
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G |
Mapk8 |
mitogen-activated protein kinase 8 |
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IEP |
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RGD |
PMID:21894146 |
RGD:6218988 |
NCBI chr16:8,645,171...8,728,225
Ensembl chr16:8,638,924...8,721,981
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G |
Mif |
macrophage migration inhibitory factor |
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IDA |
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RGD |
PMID:10780884 |
RGD:1642011 |
NCBI chr20:12,767,138...12,791,222
Ensembl chr20:12,790,902...12,799,504 Ensembl chr 4:12,790,902...12,799,504
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G |
Mmp12 |
matrix metallopeptidase 12 |
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IEP |
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RGD |
PMID:21894146 |
RGD:6218988 |
NCBI chr 8:12,866,652...12,876,554
Ensembl chr 8:4,581,785...4,599,611
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G |
Mmp14 |
matrix metallopeptidase 14 |
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IEP |
mRNA:increased expression:kidney, macrophage |
RGD |
PMID:10878552 |
RGD:2314954 |
NCBI chr15:31,857,824...31,867,049
Ensembl chr15:27,887,727...27,899,864
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G |
Nos2 |
nitric oxide synthase 2 |
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IEP |
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RGD |
PMID:21894146 |
RGD:6218988 |
NCBI chr10:64,313,335...64,349,221
Ensembl chr10:63,815,308...63,851,210
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G |
Nppb |
natriuretic peptide B |
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ISO |
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RGD |
PMID:11729234 |
RGD:7248605 |
NCBI chr 5:163,699,955...163,701,314
Ensembl chr 5:158,416,866...158,418,168
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G |
Pdcd1 |
programmed cell death 1 |
treatment |
IEP |
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RGD |
PMID:21965585 |
RGD:7248671 |
NCBI chr 9:101,866,124...101,879,278
Ensembl chr 9:94,418,791...94,431,937
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G |
Pf4 |
platelet factor 4 |
treatment |
IEP |
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RGD |
PMID:7573480 |
RGD:329901920 |
NCBI chr14:17,582,477...17,583,392
Ensembl chr14:17,298,308...17,299,365
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G |
Ppara |
peroxisome proliferator activated receptor alpha |
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ISO |
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RGD |
PMID:17888025 |
RGD:5563035 |
NCBI chr 7:118,712,261...118,780,723
Ensembl chr 7:116,832,756...116,895,346
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G |
Ptk2b |
protein tyrosine kinase 2 beta |
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IEP |
protein:increased expression:glomerulus |
RGD |
PMID:11774117 |
RGD:729912 |
NCBI chr15:44,536,275...44,656,754
Ensembl chr15:40,360,723...40,481,282
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G |
Rapgef1 |
Rap guanine nucleotide exchange factor 1 |
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IEP |
protein:increased expression:renal glomerulus |
RGD |
PMID:18784646 |
RGD:11534983 |
NCBI chr 3:33,296,211...33,414,119
Ensembl chr 3:12,898,266...13,013,984
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G |
RT1-Db1 |
RT1 class II, locus Db1 |
susceptibility |
ISO |
DNA:polymorphism (human) |
RGD |
PMID:21569485 |
RGD:5147561 |
NCBI chr20:4,550,594...4,560,182
Ensembl chr20:4,548,666...4,558,258
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G |
RT1-Hb-ps1 |
RT1 class II, locus Hb, pseudogene 1 |
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ISO |
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RGD |
PMID:21569485 |
RGD:5147561 |
NCBI chr20:4,777,494...4,781,486
Ensembl chr20:4,774,650...4,780,618
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G |
Selp |
selectin P |
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IDA |
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RGD |
PMID:21894146 |
RGD:6218988 |
NCBI chr13:79,009,379...79,044,994
Ensembl chr13:76,476,295...76,511,845
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G |
Slc34a1 |
solute carrier family 34 member 1 |
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ISO |
protein:decreased expression:kidney, brush border membrane (mouse) |
RGD |
PMID:19193726 |
RGD:7242947 |
NCBI chr17:9,224,010...9,238,983
Ensembl chr17:9,218,876...9,233,852
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G |
Slit2 |
slit guidance ligand 2 |
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IEP |
mRNA:decreased expression:kidney, glomerulus |
RGD |
PMID:15215188 |
RGD:2316132 |
NCBI chr14:66,829,661...67,168,517
Ensembl chr14:62,617,067...62,955,948
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G |
Spp1 |
secreted phosphoprotein 1 |
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ISO |
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RGD |
PMID:20504883 |
RGD:6903276 |
NCBI chr14:5,613,569...5,620,695
Ensembl chr14:5,308,885...5,315,162
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G |
Syk |
spleen associated tyrosine kinase |
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IMP |
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RGD |
PMID:21894146 |
RGD:6218988 |
NCBI chr17:12,756,493...12,830,927
Ensembl chr17:12,604,619...12,661,410
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G |
Tnf |
tumor necrosis factor |
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IEP |
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RGD |
PMID:21894146 |
RGD:6218988 |
NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629
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G |
Vcam1 |
vascular cell adhesion molecule 1 |
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ISO |
protein:increased expression:urine, serum: |
RGD |
PMID:23460853 |
RGD:7241232 |
NCBI chr 2:206,723,050...206,742,783
Ensembl chr 2:204,038,114...204,057,958
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G |
Xcl1 |
X-C motif chemokine ligand 1 |
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IEP |
mRNA:increased expression:glomerulus |
RGD |
PMID:9717977 |
RGD:8693304 |
NCBI chr13:79,781,784...79,785,440
Ensembl chr13:77,248,717...77,252,329
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Col4a3 |
collagen type IV alpha 3 chain |
|
ISO |
ClinVar Annotator: match by term: ALPORT SYNDROME 3A, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Alport syndrome 3, autosomal dominant | ClinVar Annotator: match by term: Autosomal dominant Alport syndrome | ClinVar Annotator: match by term: Renal failure and sensorineural hearing loss CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:1400291 PMID:2557550 PMID:6138234 PMID:7780062 PMID:7987301 PMID:7987396 PMID:8956999 PMID:9195222 PMID:9269635 PMID:9536098 PMID:9724608 PMID:11044206 PMID:11134255 PMID:11961012 PMID:12028435 PMID:14582039 PMID:14871398 PMID:15086897 PMID:15880327 PMID:15954103 PMID:16199547 PMID:17216251 PMID:17576681 PMID:18436078 PMID:19525337 PMID:20301386 PMID:21157337 PMID:21897443 PMID:22887978 PMID:23325022 PMID:23927549 PMID:23967202 PMID:24033266 PMID:24033287 PMID:24052634 PMID:24130771 PMID:24262798 PMID:24633401 PMID:24854265 PMID:24944784 PMID:25229338 PMID:25307543 PMID:25381091 PMID:25407002 PMID:25450602 PMID:25514610 PMID:25525159 PMID:25575550 PMID:25596306 PMID:25741868 PMID:26138234 PMID:26277931 PMID:26346198 PMID:26411580 PMID:26467025 PMID:26633401 PMID:26795916 PMID:26809805 PMID:26920127 PMID:26934356 PMID:26940125 PMID:27281700 PMID:27391953 PMID:27485810 PMID:27627812 PMID:27796712 PMID:27859054 PMID:27904025 PMID:27932480 PMID:28117080 PMID:28476686 PMID:28492532 PMID:28542346 PMID:28570636 PMID:28600779 PMID:28632965 PMID:28658201 PMID:28704582 PMID:28780565 PMID:28844315 PMID:29089023 PMID:29098738 PMID:29127259 PMID:29204651 PMID:29271581 PMID:29644057 PMID:29801666 PMID:29854973 PMID:29924831 PMID:29946535 PMID:30295827 PMID:30311386 PMID:30406062 PMID:30450445 PMID:30476138 PMID:30487145 PMID:30506145 PMID:30586318 PMID:30647093 PMID:30661074 PMID:30773290 PMID:30819905 PMID:30828794 PMID:30881523 PMID:31027891 PMID:31130284 PMID:31144478 PMID:31256874 PMID:31306228 PMID:31328266 PMID:31387071 PMID:31477057 PMID:31625567 PMID:31807928 PMID:31865346 PMID:32359821 PMID:32647767 PMID:32703181 PMID:32723786 PMID:32860008 PMID:32887937 PMID:32939031 PMID:33040356 PMID:33179747 PMID:33226606 PMID:33229591 PMID:33369211 PMID:33391746 PMID:33532864 PMID:33712733 PMID:33772369 PMID:33774048 PMID:33838161 PMID:33851121 PMID:33854215 PMID:34013111 PMID:34113375 PMID:34120753 PMID:34215756 PMID:34400539 PMID:34426522 PMID:34440452 PMID:34662886 PMID:34906502 PMID:35090027 PMID:35177655 PMID:35301649 PMID:35325889 PMID:35369551 PMID:35372954 PMID:35386907 PMID:35485766 PMID:35880347 PMID:36013122 PMID:36100708 PMID:36117978 PMID:36130833 PMID:36134775 PMID:36292665 PMID:36925663 PMID:36938085 PMID:37097554 PMID:37362409 PMID:37849993 PMID:38214412 PMID:38262496 More...
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NCBI chr 9:91,323,990...91,453,088
Ensembl chr 9:83,875,561...84,001,895
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G |
Col4a4 |
collagen type IV alpha 4 chain |
|
ISO |
ClinVar Annotator: match by term: Alport syndrome 3, autosomal dominant | ClinVar Annotator: match by term: Autosomal dominant Alport syndrome | ClinVar Annotator: match by term: Renal failure and sensorineural hearing loss |
ClinVar |
PMID:9536098 PMID:9792860 PMID:11375996 PMID:11961012 PMID:12028435 PMID:12631110 PMID:12748344 PMID:15618242 PMID:15954103 PMID:16199547 PMID:16467446 PMID:17216251 PMID:17576681 PMID:17942953 PMID:19129241 PMID:20301386 PMID:21196518 PMID:21897443 PMID:24033266 PMID:24046192 PMID:24052634 PMID:24633401 PMID:24854265 PMID:25307543 PMID:25525159 PMID:25596306 PMID:25741868 PMID:26467025 PMID:26809805 PMID:26934356 PMID:27859054 PMID:28492532 PMID:28632965 PMID:28658201 PMID:28704582 PMID:28844315 PMID:29801666 PMID:29854973 PMID:29924831 PMID:30745910 PMID:31312213 PMID:31934206 PMID:33233744 PMID:33369211 PMID:33532864 PMID:33772369 PMID:33838161 PMID:33854215 PMID:34746741 PMID:35759000 PMID:36100708 More...
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NCBI chr 9:91,281,324...91,323,577
Ensembl chr 9:83,755,515...83,875,876
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G |
Col4a5 |
collagen type IV alpha 5 chain |
|
ISO |
ClinVar Annotator: match by term: Alport syndrome 3, autosomal dominant | ClinVar Annotator: match by term: Autosomal dominant Alport syndrome |
ClinVar |
PMID:7599631 PMID:7695699 PMID:8218237 PMID:8651296 PMID:8940267 PMID:9195222 PMID:9848783 PMID:10752524 PMID:11223851 PMID:12028435 PMID:14514738 PMID:16199547 PMID:19344236 PMID:19965530 PMID:21505094 PMID:23144074 PMID:23720012 PMID:24046192 PMID:24304881 PMID:24854265 PMID:25741868 PMID:26809805 PMID:27627812 PMID:28492532 PMID:30577881 PMID:30773290 PMID:33369211 More...
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NCBI chr X:109,907,251...110,111,214
Ensembl chr X:105,118,820...105,322,692
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G |
Myh9 |
myosin, heavy chain 9 |
|
ISO |
DNA:missense mutation:exon:4270G>C,D1424H (human) |
RGD |
PMID:12500226 |
RGD:6902925 |
NCBI chr 7:111,224,291...111,304,963
Ensembl chr 7:109,343,706...109,424,457
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G |
Cacna1d |
calcium voltage-gated channel subunit alpha1 D |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive Alport syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr16:5,233,682...5,527,549
Ensembl chr16:5,228,306...5,668,215
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G |
Ccr1 |
C-C motif chemokine receptor 1 |
|
ISO |
|
RGD |
PMID:15716328 |
RGD:5688157 |
NCBI chr 8:132,433,711...132,439,266
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G |
Col4a3 |
collagen type IV alpha 3 chain |
|
ISO ISS |
ClinVar Annotator: match by term: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Alport syndrome 3b, autosomal recessive | ClinVar Annotator: match by term: Autosomal recessive Alport syndrome OMIM:203780 |
OMIM ClinVar MouseDO |
PMID:1400291 PMID:6138234 PMID:7633417 PMID:7780062 PMID:7987301 PMID:7987396 PMID:8956999 PMID:9195222 PMID:9269635 PMID:9536098 PMID:9647515 PMID:9724608 PMID:11044206 PMID:11134255 PMID:11961012 PMID:12028435 PMID:14582039 PMID:14871398 PMID:15880327 PMID:15954103 PMID:16199547 PMID:17216251 PMID:17396119 PMID:17576681 PMID:18385178 PMID:18436078 PMID:19525337 PMID:21157337 PMID:21897443 PMID:22887978 PMID:23297803 PMID:23325022 PMID:23927549 PMID:23967202 PMID:24033266 PMID:24033287 PMID:24052634 PMID:24130771 PMID:24262798 PMID:24633401 PMID:24854265 PMID:24944784 PMID:25229338 PMID:25307543 PMID:25381091 PMID:25407002 PMID:25450602 PMID:25514610 PMID:25525159 PMID:25575550 PMID:25596306 PMID:25741868 PMID:25888712 PMID:26138234 PMID:26277931 PMID:26346198 PMID:26467025 PMID:26594346 PMID:26633401 PMID:26795916 PMID:26809805 PMID:26934356 PMID:26940125 PMID:27281700 PMID:27391953 PMID:27485810 PMID:27627812 PMID:27796712 PMID:27859054 PMID:27904025 PMID:27932480 PMID:28117080 PMID:28492532 PMID:28542346 PMID:28570636 PMID:28632965 PMID:28658201 PMID:28780565 PMID:29098738 PMID:29100090 PMID:29127259 PMID:29204651 PMID:29270492 PMID:29271581 PMID:29644057 PMID:29801666 PMID:29854973 PMID:29924831 PMID:29946535 PMID:30311386 PMID:30406062 PMID:30476138 PMID:30487145 PMID:30586318 PMID:30647093 PMID:30661074 PMID:30773290 PMID:30819905 PMID:30881523 PMID:31027891 PMID:31256874 PMID:31306228 PMID:31328266 PMID:31387071 PMID:31477057 PMID:31807928 PMID:31865346 PMID:31925849 PMID:32359821 PMID:32647767 PMID:32703181 PMID:32723786 PMID:32860008 PMID:32887937 PMID:32939031 PMID:33040356 PMID:33226606 PMID:33229591 PMID:33369211 PMID:33391746 PMID:33532864 PMID:33712733 PMID:33772369 PMID:33774048 PMID:33838161 PMID:33851121 PMID:33854215 PMID:33980730 PMID:34013111 PMID:34120753 PMID:34215756 PMID:34400539 PMID:34426522 PMID:34662886 PMID:35090027 PMID:35102923 PMID:35177655 PMID:35301649 PMID:35325889 PMID:35369551 PMID:35372954 PMID:35386907 PMID:35485766 PMID:35497790 PMID:36013122 PMID:36117978 PMID:36134775 PMID:36292665 PMID:36925663 PMID:36938085 PMID:37097554 PMID:37362409 PMID:37849993 PMID:38214412 More...
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NCBI chr 9:91,323,990...91,453,088
Ensembl chr 9:83,875,561...84,001,895
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G |
Col4a4 |
collagen type IV alpha 4 chain |
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ISO ISS |
ClinVar Annotator: match by term: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Alport syndrome 3b, autosomal recessive | ClinVar Annotator: match by term: Autosomal recessive Alport syndrome ClinVar Annotator: match by term: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Autosomal recessive Alport syndrome OMIM:203780 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:3385421 PMID:7987396 PMID:8787673 PMID:9195222 PMID:9536098 PMID:9792860 PMID:11375996 PMID:11961012 PMID:12028435 PMID:12325029 PMID:12631110 PMID:12748344 PMID:14582039 PMID:15618242 PMID:15954103 PMID:16199547 PMID:16338941 PMID:16467446 PMID:17216251 PMID:17396119 PMID:17576681 PMID:17942953 PMID:19129241 PMID:19675380 PMID:20029656 PMID:20301386 PMID:21196518 PMID:21897443 PMID:22887978 PMID:23349334 PMID:23551117 PMID:23967202 PMID:24033266 PMID:24033287 PMID:24046192 PMID:24052634 PMID:24398087 PMID:24472419 PMID:24522496 PMID:24633401 PMID:24854265 PMID:25229338 PMID:25307543 PMID:25381091 PMID:25514610 PMID:25525159 PMID:25575550 PMID:25596306 PMID:25741868 PMID:25755845 PMID:26346198 PMID:26467025 PMID:26628290 PMID:26809805 PMID:26833262 PMID:26934356 PMID:27281700 PMID:27469977 PMID:27859054 PMID:28117080 PMID:28476686 PMID:28492532 PMID:28542346 PMID:28632965 PMID:28658201 PMID:28704582 PMID:28844315 PMID:28968992 PMID:28976722 PMID:29098738 PMID:29204651 PMID:29496980 PMID:29801666 PMID:29854973 PMID:29873249 PMID:29907799 PMID:29924831 PMID:30076350 PMID:30406062 PMID:30450445 PMID:30506145 PMID:30586318 PMID:30647093 PMID:30745910 PMID:30883042 PMID:30968591 PMID:31019026 PMID:31049720 PMID:31246743 PMID:31308072 PMID:31312213 PMID:31328266 PMID:31408864 PMID:31589614 PMID:31677115 PMID:31922066 PMID:32332277 PMID:32604935 PMID:32647767 PMID:32703181 PMID:32723786 PMID:32939031 PMID:33048202 PMID:33095447 PMID:33233744 PMID:33369211 PMID:33532864 PMID:33712733 PMID:33772369 PMID:33838161 PMID:33854215 PMID:34400539 PMID:34584596 PMID:34625929 PMID:34746741 PMID:34762194 PMID:34993602 PMID:35064937 PMID:35114279 PMID:35325889 PMID:35369551 PMID:35419377 PMID:35478268 PMID:35759000 PMID:36100708 PMID:36130833 PMID:36239278 PMID:36349777 PMID:36370330 PMID:36646731 PMID:36699462 PMID:36758113 PMID:37097554 PMID:37147621 PMID:38317457 More...
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NCBI chr 9:91,281,324...91,323,577
Ensembl chr 9:83,755,515...83,875,876
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G |
Gjb2 |
gap junction protein, beta 2 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive Alport syndrome |
ClinVar |
PMID:24033266 PMID:25741868 |
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NCBI chr15:35,375,977...35,393,817
Ensembl chr15:31,260,357...31,278,177
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G |
Mpv17 |
mitochondrial inner membrane protein MPV17 |
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ISS |
OMIM:203780 |
MouseDO |
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NCBI chr 6:30,941,693...30,956,389
Ensembl chr 6:25,222,896...25,236,244
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G |
Sec61a1 |
SEC61 translocon subunit alpha 1 |
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ISO |
ClinVar Annotator: match by term: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE |
ClinVar |
PMID:27392076 PMID:33185949 |
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NCBI chr 4:122,530,785...122,545,141
Ensembl chr 4:120,960,626...120,987,925
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G |
Tp53 |
tumor protein p53 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22071594 |
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NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524
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G |
C1qa |
complement C1q A chain |
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ISO |
ClinVar Annotator: match by term: C1Q deficiency |
ClinVar |
PMID:7594474 PMID:8840296 PMID:9225968 PMID:9590289 PMID:21654842 PMID:22472776 PMID:25741868 PMID:26563161 PMID:28492532 PMID:29739689 PMID:30008451 More...
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NCBI chr 5:154,417,086...154,419,933
Ensembl chr 5:149,133,636...149,136,534
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G |
C1qb |
complement C1q B chain |
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ISO |
ClinVar Annotator: match by term: C1Q deficiency |
ClinVar |
PMID:17513176 PMID:21654842 PMID:25741868 PMID:28492532 |
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NCBI chr 5:154,402,276...154,407,827
Ensembl chr 5:149,118,846...149,124,407
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G |
C1qc |
complement C1q C chain |
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ISO |
ClinVar Annotator: match by term: C1Q deficiency |
ClinVar |
PMID:7029321 PMID:7900940 PMID:8630118 PMID:20635792 PMID:21654842 PMID:24157463 PMID:25741868 PMID:28082982 PMID:28492532 PMID:30008451 PMID:31357913 More...
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NCBI chr 5:154,410,845...154,414,208
Ensembl chr 5:149,127,415...149,131,017
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G |
C1qa |
complement C1q A chain |
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ISO |
ClinVar Annotator: match by term: C1Q deficiency 1 | ClinVar Annotator: match by term: C1QA-related condition |
OMIM ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 5:154,417,086...154,419,933
Ensembl chr 5:149,133,636...149,136,534
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G |
C1qb |
complement C1q B chain |
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ISO |
ClinVar Annotator: match by term: C1Q deficiency 2 | ClinVar Annotator: match by term: C1QB-related condition |
OMIM ClinVar |
PMID:2894352 PMID:24160257 PMID:25741868 PMID:28492532 |
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NCBI chr 5:154,402,276...154,407,827
Ensembl chr 5:149,118,846...149,124,407
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G |
C1qc |
complement C1q C chain |
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ISO |
ClinVar Annotator: match by term: C1Q deficiency 3 | ClinVar Annotator: match by term: C1QC-related condition |
OMIM ClinVar |
PMID:7029321 PMID:8630118 PMID:24157463 PMID:28492532 |
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NCBI chr 5:154,410,845...154,414,208
Ensembl chr 5:149,127,415...149,131,017
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G |
Cfh |
complement factor H |
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ISO |
ClinVar Annotator: match by term: C3 GLOMERULOPATHY 3 | ClinVar Annotator: match by term: CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II |
ClinVar |
PMID:8072530 PMID:9536098 PMID:11158219 PMID:11170895 PMID:11978762 PMID:12424708 PMID:12697737 PMID:15761120 PMID:15870199 PMID:16299065 PMID:16338962 PMID:16601698 PMID:16619239 PMID:17018561 PMID:17576681 PMID:17599974 PMID:17947292 PMID:18235085 PMID:18252712 PMID:18557729 PMID:19190809 PMID:19259132 PMID:19297022 PMID:19454698 PMID:19633317 PMID:20016463 PMID:20059470 PMID:20203157 PMID:21317894 PMID:21415311 PMID:21909106 PMID:22019782 PMID:22171659 PMID:22223606 PMID:22389686 PMID:22403278 PMID:22410797 PMID:22456601 PMID:23431077 PMID:23685748 PMID:23852337 PMID:24036949 PMID:24036952 PMID:24498017 PMID:25037630 PMID:25087612 PMID:25741868 PMID:25814826 PMID:25880396 PMID:26215151 PMID:26376859 PMID:26501415 PMID:26559391 PMID:26691988 PMID:26826462 PMID:27718086 PMID:28011711 PMID:28492532 PMID:28859202 PMID:28941939 PMID:29410599 PMID:29500241 PMID:29888403 PMID:30560448 PMID:30674459 PMID:31447099 PMID:31575699 PMID:31589614 PMID:33519811 PMID:34169201 PMID:34189567 PMID:34260947 PMID:34508573 PMID:34748552 PMID:35925583 PMID:36246952 PMID:36445700 More...
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NCBI chr13:54,063,079...54,164,523
Ensembl chr13:51,511,828...51,613,838
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G |
Cx3cl1 |
C-X3-C motif chemokine ligand 1 |
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IEP |
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RGD |
PMID:12028445 |
RGD:9491783 |
NCBI chr19:10,233,326...10,244,856
Ensembl chr19:10,227,340...10,236,833
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G |
Cx3cr1 |
C-X3-C motif chemokine receptor 1 |
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IEP |
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RGD |
PMID:12028445 |
RGD:9491783 |
NCBI chr 8:128,661,294...128,679,048
Ensembl chr 8:119,782,595...119,800,014
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G |
Ccl2 |
C-C motif chemokine ligand 2 |
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IEP |
mRNA:increased expression:kidney (rat) |
RGD |
PMID:10844611 PMID:11135063 |
RGD:8549481, RGD:10755562 |
NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,005,424...67,007,226
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G |
Edn1 |
endothelin 1 |
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IEP |
mRNA:increased expression:renal cortex (rat) |
RGD |
PMID:9893116 |
RGD:8662387 |
NCBI chr17:22,660,799...22,666,687
Ensembl chr17:22,454,420...22,460,885
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G |
Hmox1 |
heme oxygenase 1 |
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ISO |
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RGD |
PMID:11135063 |
RGD:10755562 |
NCBI chr19:13,452,365...13,479,823
Ensembl chr19:13,467,244...13,474,079
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G |
Nfe2l2 |
NFE2 like bZIP transcription factor 2 |
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IEP |
protein:decreased localization:nucleus |
RGD |
PMID:23512109 |
RGD:10412728 |
NCBI chr 3:81,001,529...81,031,165
Ensembl chr 3:60,594,242...60,621,737
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G |
Ccl2 |
C-C motif chemokine ligand 2 |
treatment |
IMP IDA |
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RGD |
PMID:8903512 PMID:17314328 |
RGD:8549743, RGD:8549770 |
NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,005,424...67,007,226
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G |
Ccl3 |
C-C motif chemokine ligand 3 |
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ISO IEP |
associated with Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis |
RGD |
PMID:18846416 PMID:17898087 |
RGD:7241813, RGD:2307059 |
NCBI chr10:68,948,889...68,950,439
Ensembl chr10:68,451,388...68,452,938
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G |
Cd40 |
CD40 molecule |
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ISO |
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RGD |
PMID:14569091 |
RGD:7248599 |
NCBI chr 3:174,209,113...174,224,592
Ensembl chr 3:153,790,449...153,805,534
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G |
Cd40lg |
CD40 ligand |
treatment |
ISO |
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RGD |
PMID:14569091 |
RGD:7248599 |
NCBI chr X:140,164,341...140,176,057
Ensembl chr X:135,126,969...135,138,306
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G |
Csf1r |
colony stimulating factor 1 receptor |
treatment |
IMP |
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RGD |
PMID:23408165 |
RGD:151665815 |
NCBI chr18:56,834,152...56,860,804
Ensembl chr18:54,546,659...54,590,415
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G |
Fcgr2a |
Fc gamma receptor 2A |
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IAGP |
DNA:CNV:3'UTR: |
RGD |
PMID:16482158 |
RGD:2293335 |
NCBI chr13:85,813,516...85,830,269
Ensembl chr13:83,280,784...83,295,967
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G |
Il1b |
interleukin 1 beta |
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IDA |
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RGD |
PMID:19959716 |
RGD:7175502 |
NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:116,577,010...116,583,415
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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 3:27,509,836...27,525,738
Ensembl chr 3:7,111,550...7,127,445
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G |
Jund |
JunD proto-oncogene, AP-1 transcription factor subunit |
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IEP |
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RGD |
PMID:18443593 |
RGD:2293336 |
NCBI chr16:18,768,093...18,769,771
Ensembl chr16:18,734,122...18,735,799
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G |
Mmp12 |
matrix metallopeptidase 12 |
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IEP IMP |
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RGD |
PMID:20488952 PMID:12626598 |
RGD:2325762, RGD:737630 |
NCBI chr 8:12,866,652...12,876,554
Ensembl chr 8:4,581,785...4,599,611
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G |
Mmp3 |
matrix metallopeptidase 3 |
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IEP |
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RGD |
PMID:11095647 |
RGD:7241255 |
NCBI chr 8:12,925,267...12,938,828
Ensembl chr 8:4,640,416...4,653,961
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G |
Mmp9 |
matrix metallopeptidase 9 |
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IEP |
protein:increased expression:renal cortex (rat) |
RGD |
PMID:16046515 |
RGD:2313720 |
NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:153,683,858...153,692,120
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G |
Mtor |
mechanistic target of rapamycin kinase |
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IMP |
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RGD |
PMID:21403644 |
RGD:7245940 |
NCBI chr 5:164,167,985...164,277,438
Ensembl chr 5:158,884,804...158,994,311
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G |
Stat6 |
signal transducer and activator of transcription 6 |
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ISO |
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RGD |
PMID:21985369 |
RGD:7243976 |
NCBI chr 7:65,365,505...65,382,825
Ensembl chr 7:63,479,642...63,498,495
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G |
Tlr9 |
toll-like receptor 9 |
severity |
ISO |
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RGD |
PMID:20847283 |
RGD:7246899 |
NCBI chr 8:115,743,407...115,747,523
Ensembl chr 8:106,864,680...106,868,796
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G |
Ace2 |
angiotensin converting enzyme 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16723697 |
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NCBI chr X:33,925,458...33,972,851
Ensembl chr X:30,293,589...30,340,977
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G |
Acta2 |
actin alpha 2, smooth muscle |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20493835 |
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NCBI chr 1:241,159,723...241,172,503
Ensembl chr 1:231,746,548...231,759,554
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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 1:93,310,294...93,379,369
Ensembl chr 1:84,182,788...84,251,847
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G |
Actr3 |
actin related protein 3 |
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IAGP IEP |
DNA:missense mutation:cds:p.L111F (rat) protein:increased expression:renal glomerulus (rat) |
RGD |
PMID:18064521 PMID:27251563 |
RGD:2292230, RGD:11575049 |
NCBI chr13:39,353,413...39,396,509
Ensembl chr13:36,800,093...36,844,124
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G |
Agt |
angiotensinogen |
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IEP ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:19858406 PMID:21357516 |
RGD:5129175 |
NCBI chr19:69,426,540...69,447,017
Ensembl chr19:52,529,185...52,540,977
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G |
Agtr1a |
angiotensin II receptor, type 1a |
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IEP |
protein:increased expression:kidney cortex |
RGD |
PMID:21357516 |
RGD:5129175 |
NCBI chr17:34,383,397...34,435,523
Ensembl chr17:34,174,429...34,226,946
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G |
Agtr2 |
angiotensin II receptor, type 2 |
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IEP |
protein:increased expression:kidney cortex |
RGD |
PMID:21357516 |
RGD:5129175 |
NCBI chr X:116,914,320...116,918,504
Ensembl chr X:112,120,228...112,124,057
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G |
Angpt2 |
angiopoietin 2 |
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IEP |
mRNA, protein:increased expression:glomerulus (rat) |
RGD |
PMID:16628643 |
RGD:2314213 |
NCBI chr16:77,790,760...77,841,241
Ensembl chr16:71,088,364...71,138,804
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G |
Anln |
anillin, actin binding protein |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 8:29,134,222...29,197,513
Ensembl chr 8:20,858,228...20,921,538
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G |
Arhgap24 |
Rho GTPase activating protein 24 |
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ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis |
ClinVar |
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NCBI chr14:7,105,200...7,488,437
Ensembl chr14:6,800,631...7,183,823
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G |
Axdnd1 |
axonemal dynein light chain domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal |
ClinVar |
PMID:8589695 PMID:10742096 PMID:11805166 PMID:15253708 PMID:15327385 PMID:18823551 PMID:19406966 PMID:20947785 PMID:21355056 PMID:24509478 PMID:24742477 PMID:25741868 PMID:28492532 PMID:30655312 PMID:32581362 More...
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NCBI chr13:71,022,215...71,100,010
Ensembl chr13:68,458,411...68,544,172
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G |
Bdkrb1 |
bradykinin receptor B1 |
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ISO |
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RGD |
PMID:21412216 |
RGD:7175321 |
NCBI chr 6:130,275,631...130,284,968
Ensembl chr 6:124,510,870...124,513,747
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G |
C2 |
complement C2 |
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ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis |
ClinVar |
PMID:2249879 PMID:6308626 PMID:8181962 PMID:16518403 PMID:16936732 PMID:18806293 PMID:21541267 PMID:24033266 PMID:25741868 PMID:28492532 More...
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NCBI chr20:3,944,722...3,975,006
Ensembl chr20:3,951,474...3,976,505
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G |
C3 |
complement C3 |
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ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis |
ClinVar |
PMID:1976733 PMID:7870343 PMID:16687714 PMID:17634448 PMID:17767156 PMID:18325906 PMID:19168221 PMID:19259132 PMID:20664795 PMID:21576320 PMID:22718507 PMID:23112567 PMID:23455636 PMID:25741868 PMID:28492532 More...
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NCBI chr 9:2,174,412...2,201,339
Ensembl chr 9:2,087,437...2,114,429
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Casp9 |
caspase 9 |
treatment |
IEP |
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RGD |
PMID:28245472 |
RGD:13782344 |
Ensembl chr 5:154,109,046...154,126,626
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Cat |
catalase |
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ISO |
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RGD |
PMID:22443450 |
RGD:7205647 |
NCBI chr 3:110,297,340...110,329,526
Ensembl chr 3:89,842,399...89,874,478
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Ccl11 |
C-C motif chemokine ligand 11 |
treatment |
ISO |
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RGD |
PMID:22427838 |
RGD:7247740 |
NCBI chr10:67,525,975...67,530,576
Ensembl chr10:67,028,328...67,032,926
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Ccl3 |
C-C motif chemokine ligand 3 |
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ISO |
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RGD |
PMID:17684420 |
RGD:7241818 |
NCBI chr10:68,948,889...68,950,439
Ensembl chr10:68,451,388...68,452,938
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Ccn2 |
cellular communication network factor 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17121042 |
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NCBI chr 1:22,621,498...22,624,614
Ensembl chr 1:20,802,199...20,805,734
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Cd2ap |
CD2-associated protein |
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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 chr 9:25,580,071...25,679,968
Ensembl chr 9:18,086,984...18,182,199
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Cfb |
complement factor B |
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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 chr20:3,975,271...3,981,138
Ensembl chr20:3,951,474...3,976,505
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Cfh |
complement factor H |
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ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis |
ClinVar |
PMID:8072530 PMID:15870199 PMID:16299065 PMID:17089378 PMID:17947292 PMID:18252712 PMID:19259132 PMID:21909106 PMID:25741868 PMID:28492532 PMID:34189567 PMID:35925583 More...
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NCBI chr13:54,063,079...54,164,523
Ensembl chr13:51,511,828...51,613,838
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Cfi |
complement factor I |
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ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis |
ClinVar |
PMID:18825487 PMID:25741868 PMID:28492532 |
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NCBI chr 2:221,062,206...221,104,790
Ensembl chr 2:218,387,990...218,430,561
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Cmas |
cytidine monophosphate N-acetylneuraminic acid synthetase |
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ISS |
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MouseDO |
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NCBI chr 4:175,718,808...175,737,128
Ensembl chr 4:175,718,808...175,737,125
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Col4a1 |
collagen type IV alpha 1 chain |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16191423 PMID:18682491 |
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NCBI chr16:84,885,597...84,996,482
Ensembl chr16:78,183,533...78,294,412
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Col4a3 |
collagen type IV alpha 3 chain |
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ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis |
ClinVar |
PMID:14871398 PMID:17216251 PMID:18385178 PMID:24033266 PMID:24854265 PMID:25741868 PMID:26346198 PMID:26467025 PMID:28492532 PMID:29924831 PMID:30245029 More...
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NCBI chr 9:91,323,990...91,453,088
Ensembl chr 9:83,875,561...84,001,895
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Col4a4 |
collagen type IV alpha 4 chain |
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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 9:91,281,324...91,323,577
Ensembl chr 9:83,755,515...83,875,876
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Col4a5 |
collagen type IV alpha 5 chain |
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ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis |
ClinVar |
PMID:8648925 PMID:9195222 PMID:10561141 PMID:10752524 PMID:14514738 PMID:14993485 PMID:15780079 PMID:21505094 PMID:24033266 PMID:24854265 PMID:25741868 PMID:26809805 PMID:27281700 PMID:28492532 PMID:28844315 More...
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NCBI chr X:109,907,251...110,111,214
Ensembl chr X:105,118,820...105,322,692
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Coq2 |
coenzyme Q2, polyprenyltransferase |
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ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr14:9,245,777...9,265,784
Ensembl chr14:8,941,461...8,960,891
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Coq8b |
coenzyme Q8B |
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ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis |
ClinVar |
PMID:25741868 PMID:32543055 |
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NCBI chr 1:91,653,241...91,676,822
Ensembl chr 1:82,526,568...82,549,180
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Crb2 |
crumbs cell polarity complex component 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 3:21,542,138...21,564,876
Ensembl chr 3:21,542,221...21,563,294
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Cubn |
cubilin |
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ISO |
ClinVar Annotator: match by term: Glomerulosclerosis, focal |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr17:81,293,619...81,501,694
Ensembl chr17:76,385,060...76,593,231
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Edn1 |
endothelin 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16191423 |
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NCBI chr17:22,660,799...22,666,687
Ensembl chr17:22,454,420...22,460,885
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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 5:9,646,599...9,884,609
Ensembl chr 5:4,955,543...5,101,483
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Fn1 |
fibronectin 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16191423 |
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NCBI chr 9:80,645,507...80,714,200
Ensembl chr 9:73,196,044...73,264,678
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Gnaq |
G protein subunit alpha q |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16267159 |
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NCBI chr 1:222,852,453...223,098,754
Ensembl chr 1:213,424,465...213,667,672
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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 chr10:31,619,914...31,652,955
Ensembl chr10:31,119,088...31,151,698
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Hr |
HR, lysine demethylase and nuclear receptor corepressor |
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IMP |
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RGD |
PMID:21325752 |
RGD:150520024 |
NCBI chr15:52,036,540...52,056,019
Ensembl chr15:45,626,835...45,646,313
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Hspb1 |
heat shock protein family B (small) member 1 |
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ISO |
protein:increased expression:glomerulus, podocyte: |
RGD |
PMID:21931298 |
RGD:10402764 |
NCBI chr12:26,430,640...26,432,301
Ensembl chr12:20,794,028...20,795,743
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Il1b |
interleukin 1 beta |
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ISO |
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RGD |
PMID:21412216 |
RGD:7175321 |
NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:116,577,010...116,583,415
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Inf2 |
inverted formin 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:20023659 PMID:21866090 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30655312 PMID:32451589 More...
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NCBI chr 6:131,649,162...131,675,944
Ensembl chr 6:131,649,211...131,675,941
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Itgb3 |
integrin subunit beta 3 |
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ISO |
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RGD |
PMID:21804539 |
RGD:6907385 |
NCBI chr10:90,009,927...90,067,787
Ensembl chr10:89,509,989...89,564,679
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Itgb4 |
integrin subunit beta 4 |
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ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis |
ClinVar |
PMID:25741868 |
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NCBI chr10:101,705,592...101,741,933
Ensembl chr10:101,206,665...101,243,012
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Kirrel2 |
kirre like nephrin family adhesion molecule 2 |
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ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal |
ClinVar |
PMID:19406966 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr 1:85,708,793...85,718,670
Ensembl chr 1:85,708,793...85,718,670
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Lamb2 |
laminin subunit beta 2 |
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ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal |
ClinVar |
PMID:20556798 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr 8:118,056,899...118,069,090
Ensembl chr 8:109,178,409...109,190,549
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Lipc |
lipase C, hepatic type |
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IAGP |
protein:reduced expression:serum (rat) |
RGD |
PMID:14531811 |
RGD:2308781 |
NCBI chr 8:80,390,470...80,516,463
Ensembl chr 8:71,509,635...71,635,464
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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 3:37,257,025...37,338,675
Ensembl chr 3:16,862,195...16,940,899
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Lpl |
lipoprotein lipase |
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IEP |
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RGD |
PMID:14531811 |
RGD:2308781 |
NCBI chr16:25,596,205...25,621,928
Ensembl chr16:20,829,465...20,855,249
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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 chr14:65,594,785...65,603,583
Ensembl chr14:65,594,647...65,603,583
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Mir193a |
microRNA 193a |
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ISS |
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MouseDO |
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NCBI chr10:65,170,306...65,170,417
Ensembl chr10:64,672,343...64,672,454
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Mmp2 |
matrix metallopeptidase 2 |
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IEP |
mRNA, protein:increased expression, increased activity:kidney |
RGD |
PMID:19357873 |
RGD:2325738 |
NCBI chr19:30,327,643...30,355,856
Ensembl chr19:14,154,657...14,182,870
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Mmp9 |
matrix metallopeptidase 9 |
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IEP |
mRNA, protein:increased expression, increased activity:kidney |
RGD |
PMID:19357873 |
RGD:2325738 |
NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:153,683,858...153,692,120
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Mpv17 |
mitochondrial inner membrane protein MPV17 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18818194 |
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NCBI chr 6:30,941,693...30,956,389
Ensembl chr 6:25,222,896...25,236,244
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Myh10 |
myosin heavy chain 10 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9678433 |
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NCBI chr10:53,891,955...54,024,032
Ensembl chr10:53,394,389...53,525,165
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Myh9 |
myosin, heavy chain 9 |
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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 chr 7:111,224,291...111,304,963
Ensembl chr 7:109,343,706...109,424,457
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Myo1e |
myosin IE |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 8:70,887,934...71,080,180
Ensembl chr 8:70,887,870...71,080,169
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Myo9a |
myosin IXA |
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ISS 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 8:69,044,853...69,248,094
Ensembl chr 8:60,149,234...60,350,514
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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 chr10:44,826,299...44,853,373
Ensembl chr10:44,328,566...44,352,811
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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 chr 1:236,556,037...236,585,372
Ensembl chr 1:236,556,789...236,585,318
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Nos2 |
nitric oxide synthase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16191423 |
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NCBI chr10:64,313,335...64,349,221
Ensembl chr10:63,815,308...63,851,210
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Nphp1 |
nephrocystin 1 |
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ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 3:135,413,927...135,469,505
Ensembl chr 3:114,960,650...115,016,234
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Nphp3 |
nephrocystin 3 |
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ISO |
ClinVar Annotator: match by term: Glomerulosclerosis, focal |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 8:113,500,708...113,541,179
Ensembl chr 8:104,621,864...104,662,383
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Nphp4 |
nephrocystin 4 |
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ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 5:168,270,522...168,356,393
Ensembl chr 5:162,988,370...163,073,706
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Nphs1 |
NPHS1 adhesion molecule, nephrin |
disease_progression |
ISO |
mRNA:increased expression:urine (human) protein:decreased expression:kidney,renal glomerulus (human) |
RGD |
PMID:21414970 PMID:30900988 |
RGD:38549367, RGD:15023481 |
NCBI chr 1:94,848,261...94,876,522
Ensembl chr 1:85,720,812...85,749,078
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Nphs2 |
NPHS2 stomatin family member, 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 chr13:70,993,622...71,011,585
Ensembl chr13:68,448,926...68,461,313
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Nup93 |
nucleoporin 93 |
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ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis |
ClinVar |
PMID:32581362 |
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NCBI chr19:10,684,214...10,788,009
Ensembl chr19:10,682,075...10,788,026
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Nxf7 |
nuclear RNA export factor 7 |
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ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis |
ClinVar |
PMID:23686279 |
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NCBI chr X:102,828,592...102,845,799
Ensembl chr X:98,535,375...98,552,526
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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 chr 1:253,555,447...253,646,623
Ensembl chr 1:243,616,606...243,695,321
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Pcna |
proliferating cell nuclear antigen |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17121042 |
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NCBI chr 3:139,951,948...139,955,820
Ensembl chr 3:119,498,810...119,502,995
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G |
Pdss2 |
decaprenyl diphosphate synthase subunit 2 |
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ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr20:46,709,631...46,938,704
Ensembl chr20:46,709,649...46,938,708
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Pias1 |
protein inhibitor of activated STAT, 1 |
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IEP |
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RGD |
PMID:19350281 |
RGD:8693412 |
NCBI chr 8:72,233,566...72,347,085
Ensembl chr 8:63,338,150...63,438,905
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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 chr 1:245,655,855...245,964,966
Ensembl chr 1:236,244,683...236,551,438
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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 chr10:7,468,371...7,489,574
Ensembl chr10:6,961,709...6,983,098
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Ppp3ca |
protein phosphatase 3 catalytic subunit alpha |
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ISO |
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RGD |
PMID:26436650 |
RGD:13515117 |
NCBI chr 2:227,839,058...228,113,560
Ensembl chr 2:225,165,766...225,438,974
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Ppp3cb |
protein phosphatase 3 catalytic subunit beta |
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ISO |
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RGD |
PMID:26436650 |
RGD:13515117 |
NCBI chr15:3,809,182...3,854,204
Ensembl chr15:3,760,030...3,804,981
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G |
Psap |
prosaposin |
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ISO |
ClinVar Annotator: match by term: Hyalinosis, Segmental Glomerular |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 PMID:30976395 PMID:35456468 |
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NCBI chr20:28,756,951...28,783,422
Ensembl chr20:28,214,271...28,240,498
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G |
Rap1gap |
Rap1 GTPase-activating protein |
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ISO |
mRNA:increased expression:renal glomerulus (human) |
RGD |
PMID:24642466 |
RGD:9835343 |
NCBI chr 5:149,873,987...149,939,254
Ensembl chr 5:149,892,019...149,939,253
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G |
Reg1a |
regenerating family member 1 alpha |
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ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis |
ClinVar |
PMID:25741868 |
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NCBI chr 4:112,450,466...112,453,130
Ensembl chr 4:110,892,453...110,895,570
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G |
Rpgrip1l |
Rpgrip1-like |
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ISO |
ClinVar Annotator: match by term: Glomerulosclerosis, focal |
ClinVar |
PMID:19430481 PMID:20301500 PMID:25741868 PMID:28492532 |
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NCBI chr19:15,692,189...15,785,083
Ensembl chr19:15,692,150...15,785,083
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G |
Scarb2 |
scavenger receptor class B, member 2 |
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ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal |
ClinVar |
PMID:25088547 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr14:15,842,583...15,894,123
Ensembl chr14:15,558,236...15,609,813
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G |
Sdccag8 |
SHH signaling and ciliogenesis regulator SDCCAG8 |
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ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal |
ClinVar |
PMID:25741868 |
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NCBI chr13:88,754,521...88,979,363
Ensembl chr13:88,754,626...89,097,111
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Serpine1 |
serpin family E member 1 |
treatment |
ISO IEP |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:18682491 PMID:22303720 |
RGD:13208548 |
NCBI chr12:25,237,977...25,248,356
Ensembl chr12:19,601,272...19,611,657
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Shh |
sonic hedgehog signaling molecule |
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ISO |
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RGD |
PMID:24744439 |
RGD:12859042 |
NCBI chr 4:7,687,872...7,697,025
Ensembl chr 4:6,954,017...6,963,170
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G |
Slc17a5 |
solute carrier family 17 member 5 |
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ISO |
ClinVar Annotator: match by term: Glomerulosclerosis, focal |
ClinVar |
PMID:25741868 PMID:28492532 PMID:29140481 |
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NCBI chr 8:88,274,497...88,309,734
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Smarcal1 |
SNF2 related chromatin remodeling annealing helicase 1 |
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ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal |
ClinVar |
PMID:11799392 PMID:15880370 PMID:16840568 PMID:17089404 PMID:18805831 PMID:19127206 PMID:20301550 PMID:21914180 PMID:22998683 PMID:24589093 PMID:25741868 PMID:26499378 PMID:28492532 PMID:28796785 PMID:29127259 PMID:30784191 More...
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NCBI chr 9:81,689,446...81,735,406
Ensembl chr 9:74,240,241...74,286,146
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G |
Spp1 |
secreted phosphoprotein 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9294829 |
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NCBI chr14:5,613,569...5,620,695
Ensembl chr14:5,308,885...5,315,162
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G |
Srgap1 |
SLIT-ROBO Rho GTPase activating protein 1 |
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ISS |
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MouseDO |
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NCBI chr 7:57,329,532...57,594,681
Ensembl chr 7:57,329,532...57,596,196
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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 1:90,324,312...90,340,627
Ensembl chr 1:81,196,532...81,212,847
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Tmem63c |
transmembrane protein 63c |
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ISO |
protein:decreased expression:kidney,renal glomerulus (human) |
RGD |
PMID:30900988 |
RGD:15023481 |
NCBI chr 6:106,667,389...106,738,778
Ensembl chr 6:106,672,934...106,736,990
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Tnf |
tumor necrosis factor |
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ISO |
protein:increased expression:serum |
RGD |
PMID:21221075 |
RGD:7245511 |
NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629
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G |
Tnfaip2 |
TNF alpha induced protein 2 |
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ISS |
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MouseDO |
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NCBI chr 6:136,297,388...136,311,106
Ensembl chr 6:130,476,889...130,489,914
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Tnfrsf1a |
TNF receptor superfamily member 1A |
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ISO |
protein:increased expression:serum |
RGD |
PMID:21221075 |
RGD:7245511 |
NCBI chr 4:159,837,119...159,849,817
Ensembl chr 4:158,150,820...158,163,591
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G |
Tnfrsf1b |
TNF receptor superfamily member 1B |
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ISO |
protein:increased expression:serum |
RGD |
PMID:21221075 |
RGD:7245511 |
NCBI chr 5:162,356,250...162,387,411
Ensembl chr 5:157,070,642...157,104,206
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Trpc6 |
transient receptor potential cation channel, subfamily C, member 6 |
treatment |
IDA 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 8:14,044,216...14,148,808
Ensembl chr 8:5,758,935...5,828,092
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Vldlr |
very low density lipoprotein receptor |
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IEP |
protein:decreased expression:adipose tissue, skeletal muscle (rat) |
RGD |
PMID:11786096 |
RGD:2324671 |
NCBI chr 1:234,239,769...234,272,150
Ensembl chr 1:224,814,377...224,845,920
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Vwf |
von Willebrand factor |
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ISO |
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RGD |
PMID:22295953 |
RGD:7207031 |
NCBI chr 4:160,042,900...160,177,757
Ensembl chr 4:158,360,152...158,491,539
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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 3:112,019,721...112,068,454
Ensembl chr 3:91,567,001...91,613,643
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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 5:139,912,395...139,945,532
Ensembl chr 5:134,627,229...134,660,110
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Ace |
angiotensin I converting enzyme |
treatment |
IMP |
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RGD |
PMID:8505110 |
RGD:12880006 |
NCBI chr10:91,410,129...91,430,246
Ensembl chr10:90,910,316...90,931,131
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G |
Actn4 |
actinin alpha 4 |
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ISO ISS |
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 1:93,310,294...93,379,369
Ensembl chr 1:84,182,788...84,251,847
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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 chr14:7,105,200...7,488,437
Ensembl chr14:6,800,631...7,183,823
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Axdnd1 |
axonemal dynein light chain domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis |
ClinVar |
PMID:8589695 PMID:10742096 PMID:11805166 PMID:15253708 PMID:15327385 PMID:18823551 PMID:19406966 PMID:20947785 PMID:21355056 PMID:24509478 PMID:24742477 PMID:25741868 PMID:28492532 PMID:30655312 PMID:32581362 More...
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NCBI chr13:71,022,215...71,100,010
Ensembl chr13:68,458,411...68,544,172
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C2 |
complement C2 |
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ISO |
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis |
ClinVar |
PMID:2249879 PMID:6308626 PMID:8181962 PMID:16518403 PMID:16936732 PMID:18806293 PMID:21541267 PMID:24033266 PMID:25741868 PMID:28492532 More...
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NCBI chr20:3,944,722...3,975,006
Ensembl chr20:3,951,474...3,976,505
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C3 |
complement C3 |
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ISO |
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis |
ClinVar |
PMID:1976733 PMID:17634448 PMID:18325906 PMID:19168221 PMID:25741868 PMID:28492532 More...
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NCBI chr 9:2,174,412...2,201,339
Ensembl chr 9:2,087,437...2,114,429
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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 chr 9:25,580,071...25,679,968
Ensembl chr 9:18,086,984...18,182,199
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Cfb |
complement factor B |
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ISO |
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis |
ClinVar |
PMID:2249879 PMID:6308626 PMID:8181962 PMID:16518403 PMID:16936732 PMID:18806293 PMID:21541267 PMID:24033266 PMID:25741868 PMID:28492532 More...
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NCBI chr20:3,975,271...3,981,138
Ensembl chr20:3,951,474...3,976,505
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G |
Cfi |
complement factor I |
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ISO |
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis |
ClinVar |
PMID:18825487 PMID:25741868 PMID:28492532 |
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NCBI chr 2:221,062,206...221,104,790
Ensembl chr 2:218,387,990...218,430,561
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G |
Col4a4 |
collagen type IV alpha 4 chain |
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ISO |
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis |
ClinVar |
PMID:19129241 PMID:21196518 PMID:24052634 PMID:24522496 PMID:24854265 PMID:25307543 PMID:25741868 PMID:26809805 PMID:27281700 PMID:28492532 PMID:31049720 PMID:31922066 More...
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NCBI chr 9:91,281,324...91,323,577
Ensembl chr 9:83,755,515...83,875,876
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Cubn |
cubilin |
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ISO |
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr17:81,293,619...81,501,694
Ensembl chr17:76,385,060...76,593,231
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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 5:9,646,599...9,884,609
Ensembl chr 5:4,955,543...5,101,483
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Inf2 |
inverted formin 2 |
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ISO |
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 6:131,649,162...131,675,944
Ensembl chr 6:131,649,211...131,675,941
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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 1:85,708,793...85,718,670
Ensembl chr 1:85,708,793...85,718,670
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G |
Lamb2 |
laminin subunit beta 2 |
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ISO |
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis |
ClinVar |
PMID:20556798 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr 8:118,056,899...118,069,090
Ensembl chr 8:109,178,409...109,190,549
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Myh9 |
myosin, heavy chain 9 |
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ISO |
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis |
ClinVar |
PMID:19557653 PMID:23144074 PMID:24033266 PMID:25741868 PMID:26346198 PMID:26467025 PMID:26969326 PMID:27068579 PMID:28492532 More...
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NCBI chr 7:111,224,291...111,304,963
Ensembl chr 7:109,343,706...109,424,457
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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 8:69,044,853...69,248,094
Ensembl chr 8:60,149,234...60,350,514
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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 chr10:44,826,299...44,853,373
Ensembl chr10:44,328,566...44,352,811
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G |
Nphp3 |
nephrocystin 3 |
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ISO |
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 8:113,500,708...113,541,179
Ensembl chr 8:104,621,864...104,662,383
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G |
Nphs2 |
NPHS2 stomatin family member, podocin |
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ISO |
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis |
ClinVar |
PMID:8589695 PMID:10742096 PMID:11805166 PMID:11854170 PMID:12446471 PMID:12464671 PMID:12707396 PMID:12776285 PMID:14978175 PMID:15042551 PMID:15253708 PMID:15327385 PMID:15496146 PMID:15769810 PMID:15954915 PMID:15968559 PMID:16286890 PMID:16481888 PMID:16810518 PMID:16900088 PMID:17371932 PMID:17899208 PMID:17942957 PMID:18216321 PMID:18499321 PMID:18683072 PMID:18823551 PMID:19145239 PMID:19268410 PMID:19406966 PMID:19520069 PMID:19812541 PMID:20333530 PMID:20798252 PMID:20947785 PMID:21355056 PMID:21415313 PMID:21722858 PMID:22228437 PMID:22578956 PMID:23242530 PMID:23349334 PMID:23515051 PMID:23595123 PMID:23645318 PMID:23800802 PMID:24227627 PMID:24509478 PMID:24715228 PMID:24742477 PMID:24969201 PMID:25599733 PMID:25741868 PMID:26138234 PMID:26211502 PMID:26413278 PMID:26420286 PMID:26467025 PMID:27885584 PMID:28492532 PMID:28529802 PMID:28712774 PMID:28780565 PMID:29869118 PMID:30241959 PMID:30260545 PMID:30348286 PMID:30655312 PMID:31027891 PMID:31738409 PMID:32129207 PMID:32467597 PMID:32581362 PMID:33193607 PMID:33532864 PMID:34405919 PMID:34853150 More...
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NCBI chr13:70,993,622...71,011,585
Ensembl chr13:68,448,926...68,461,313
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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 chr 7:53,353,740...53,398,345
Ensembl chr 7:53,353,743...53,398,370
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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 chr 1:253,555,447...253,646,623
Ensembl chr 1:243,616,606...243,695,321
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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 chr 1:245,655,855...245,964,966
Ensembl chr 1:236,244,683...236,551,438
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G |
Pmm2 |
phosphomannomutase 2 |
|
ISO |
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis |
ClinVar |
PMID:9140401 PMID:9497260 PMID:9781039 PMID:10386614 PMID:10527672 PMID:10700701 PMID:10854097 PMID:10922383 PMID:11058895 PMID:11134235 PMID:11409861 PMID:11517108 PMID:11530212 PMID:11916319 PMID:12244009 PMID:15844218 PMID:16540464 PMID:17166182 PMID:17451957 PMID:19357119 PMID:20301289 PMID:21228398 PMID:21541725 PMID:22975760 PMID:24424129 PMID:25333069 PMID:25355454 PMID:25741868 PMID:26014514 PMID:26488408 PMID:28373276 PMID:28492532 PMID:28940310 PMID:30061496 PMID:30740725 PMID:31474318 PMID:32581362 PMID:32860008 More...
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NCBI chr10:7,468,371...7,489,574
Ensembl chr10:6,961,709...6,983,098
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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 chr19:15,692,189...15,785,083
Ensembl chr19:15,692,150...15,785,083
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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 chr14:15,842,583...15,894,123
Ensembl chr14:15,558,236...15,609,813
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Sdccag8 |
SHH signaling and ciliogenesis regulator SDCCAG8 |
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ISO |
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis |
ClinVar |
PMID:25741868 |
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NCBI chr13:88,754,521...88,979,363
Ensembl chr13:88,754,626...89,097,111
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Slc17a5 |
solute carrier family 17 member 5 |
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ISO |
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis |
ClinVar |
PMID:25741868 PMID:28492532 PMID:29140481 |
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NCBI chr 8:88,274,497...88,309,734
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Smarcal1 |
SNF2 related chromatin remodeling annealing helicase 1 |
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ISO |
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis |
ClinVar |
PMID:11799392 PMID:15880370 PMID:16840568 PMID:17089404 PMID:18805831 PMID:19127206 PMID:20301550 PMID:21914180 PMID:22998683 PMID:24589093 PMID:25741868 PMID:26499378 PMID:28492532 PMID:28796785 PMID:29127259 PMID:30784191 More...
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NCBI chr 9:81,689,446...81,735,406
Ensembl chr 9:74,240,241...74,286,146
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Trpc6 |
transient receptor potential cation channel, subfamily C, member 6 |
|
ISO |
ClinVar Annotator: match by term: Focal sclerosis with hyalinosis |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 8:14,044,216...14,148,808
Ensembl chr 8:5,758,935...5,828,092
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G |
Trpc6 |
transient receptor potential cation channel, subfamily C, member 6 |
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ISO ISS |
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 8:14,044,216...14,148,808
Ensembl chr 8:5,758,935...5,828,092
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Cd2ap |
CD2-associated protein |
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ISO ISS |
ClinVar Annotator: match by term: CD2AP-related condition | ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 3, susceptibility to OMIM:607832 |
OMIM ClinVar MouseDO |
PMID: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 chr 9:25,580,071...25,679,968
Ensembl chr 9:18,086,984...18,182,199
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Adss1 |
adenylosuccinate synthase 1 |
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ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:137,500,549...137,523,087
Ensembl chr 6:131,679,701...131,701,998
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G |
Ahnak2 |
AHNAK nucleoprotein 2 |
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ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:131,830,668...131,876,311
Ensembl chr 6:131,831,454...131,854,463
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G |
Akt1 |
AKT serine/threonine kinase 1 |
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ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:137,534,810...137,555,131
Ensembl chr 6:131,713,720...131,733,921
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G |
Brf1 |
BRF1 general transcription factor IIIB subunit |
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ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:137,854,055...137,902,629
Ensembl chr 6:132,037,272...132,081,278
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G |
Btbd6 |
BTB domain containing 6 |
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ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:137,879,202...137,881,662
Ensembl chr 6:132,058,096...132,060,587
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G |
Cdca4 |
cell division cycle associated 4 |
|
ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:131,892,305...131,901,571
Ensembl chr 6:131,892,087...131,901,564
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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 chr 6:137,602,707...137,627,750
Ensembl chr 6:131,778,957...131,806,658
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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 chr 6:131,882,866...131,889,662
Ensembl chr 6:131,882,609...131,889,662
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G |
Gpr132 |
G protein-coupled receptor 132 |
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ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:137,745,142...137,763,037
Ensembl chr 6:131,924,160...131,942,168
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G |
Inf2 |
inverted formin 2 |
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ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 | ClinVar Annotator: match by term: INF2-related condition 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 chr 6:131,649,162...131,675,944
Ensembl chr 6:131,649,211...131,675,941
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Jag2 |
jagged canonical Notch ligand 2 |
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ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:137,804,133...137,826,738
Ensembl chr 6:131,983,056...132,005,818
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G |
Nudt14 |
nudix hydrolase 14 |
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ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:137,831,382...137,838,370
Ensembl chr 6:132,010,297...132,017,298
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G |
Pacs2 |
phosphofurin acidic cluster sorting protein 2 |
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ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:137,918,040...137,977,767
Ensembl chr 6:132,096,901...132,154,583
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Pld4 |
phospholipase D family, member 4 |
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ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:137,639,948...137,647,462
Ensembl chr 6:131,818,860...131,826,376
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G |
Siva1 |
SIVA1, apoptosis-inducing factor |
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ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:137,526,416...137,530,790
Ensembl chr 6:131,705,323...131,709,690
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G |
Zbtb42 |
zinc finger and BTB domain containing 42 |
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ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:137,559,622...137,561,750
Ensembl chr 6:131,738,356...131,742,685
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G |
Ldhal6b |
lactate dehydrogenase A-like 6B |
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ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 6 |
ClinVar |
PMID:25741868 |
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NCBI chr 1:45,997,845...45,999,268
Ensembl chr 1:45,991,991...45,999,272
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G |
Myo1e |
myosin IE |
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ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 6 | ClinVar Annotator: match by term: MYO1E-related condition |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:21756023 PMID:25741868 PMID:28492532 PMID:33532864 More...
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NCBI chr 8:70,887,934...71,080,180
Ensembl chr 8:70,887,870...71,080,169
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G |
Pax2 |
paired box 2 |
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ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 7 |
OMIM ClinVar |
PMID:3077329 PMID:3377002 PMID:8589702 PMID:9106533 PMID:10466411 PMID:10533062 PMID:11093271 PMID:11241473 PMID:11461952 PMID:16199547 PMID:20301624 PMID:21108633 PMID:21654726 PMID:22213154 PMID:22350371 PMID:23539225 PMID:24429398 PMID:24676634 PMID:25741868 PMID:27226968 PMID:27657687 PMID:28041643 PMID:28492532 PMID:28566479 PMID:29973660 PMID:30076350 PMID:30241513 PMID:30773290 PMID:31001663 PMID:31027891 PMID:31060108 PMID:31576025 PMID:31692565 PMID:32203253 PMID:32604935 PMID:32776440 PMID:33532864 PMID:33997468 PMID:34696790 PMID:35444690 PMID:35574290 PMID:36549658 More...
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NCBI chr 1:253,555,447...253,646,623
Ensembl chr 1:243,616,606...243,695,321
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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 8:29,134,222...29,197,513
Ensembl chr 8:20,858,228...20,921,538
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G |
Synpo |
synaptopodin |
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ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 8 |
ClinVar |
PMID:25741868 PMID:33615071 |
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NCBI chr18:56,326,369...56,347,359
Ensembl chr18:54,026,152...54,102,126
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G |
Crb2 |
crumbs cell polarity complex component 2 |
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ISO |
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 9 |
OMIM ClinVar |
PMID:25557779 PMID:25741868 PMID:26795916 PMID:27004616 PMID:27942854 PMID:28492532 PMID:30212996 PMID:32581362 PMID:33532864 More...
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NCBI chr 3:21,542,138...21,564,876
Ensembl chr 3:21,542,221...21,563,294
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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 chr 1:255,311,039...255,325,937
Ensembl chr 1:245,369,632...245,384,513
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G |
Ace |
angiotensin I converting enzyme |
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IMP |
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RGD |
PMID:19164508 |
RGD:2325229 |
NCBI chr10:91,410,129...91,430,246
Ensembl chr10:90,910,316...90,931,131
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G |
Adm |
adrenomedullin |
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IEP ISO |
associated with Anti-Glomerular Basement Membrane Disease CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:15063164 PMID:15680492 PMID:16735801 PMID:20431304 |
RGD:1625317, RGD:2325320 |
NCBI chr 1:174,164,178...174,182,372
Ensembl chr 1:164,745,466...164,747,654
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G |
Agt |
angiotensinogen |
disease_progression |
ISO IEP |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:11459117 PMID:15888567 |
RGD:13432360 |
NCBI chr19:69,426,540...69,447,017
Ensembl chr19:52,529,185...52,540,977
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G |
Agtr2 |
angiotensin II receptor, type 2 |
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IMP |
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RGD |
PMID:19139720 |
RGD:6903845 |
NCBI chr X:116,914,320...116,918,504
Ensembl chr X:112,120,228...112,124,057
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G |
Aif1 |
allograft inflammatory factor 1 |
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IEP |
protein:increased expression:kidney (rat) |
RGD |
PMID:17035944 |
RGD:2313038 |
NCBI chr20:3,651,435...3,657,341
Ensembl chr20:3,646,777...3,652,668
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G |
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 chr14:17,891,564...17,907,043
Ensembl chr14:17,607,381...17,622,836
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G |
Alox15 |
arachidonate 15-lipoxygenase |
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IEP |
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RGD |
PMID:7967345 |
RGD:5128564 |
NCBI chr10:55,559,060...55,567,535
Ensembl chr10:55,060,412...55,068,874
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G |
Alox5ap |
arachidonate 5-lipoxygenase activating protein |
onset |
IEP |
protein:increased expression:glomerulus, endothelial cell, cytoplasm (rat) |
RGD |
PMID:14733414 |
RGD:2313931 |
NCBI chr12:10,785,254...10,809,295
Ensembl chr12:5,748,944...5,772,986
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G |
Anxa5 |
annexin A5 |
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IEP |
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RGD |
PMID:11271515 |
RGD:7241853 |
NCBI chr 2:121,242,133...121,272,935
Ensembl chr 2:119,314,007...119,353,369
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G |
Apoe |
apolipoprotein E |
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ISO |
Apoe(-/-) Id3(-/-) double knockout |
RGD |
PMID:21801865 |
RGD:6903286 |
NCBI chr 1:88,481,889...88,485,816
Ensembl chr 1:79,353,916...79,357,932
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G |
Axl |
Axl receptor tyrosine kinase |
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IDA |
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RGD |
PMID:11290560 |
RGD:1579882 |
NCBI chr 1:90,392,864...90,424,123
Ensembl chr 1:81,265,088...81,296,265
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G |
Bcl2l11 |
Bcl2-like 11 |
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ISO |
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RGD |
PMID:10576740 |
RGD:734641 |
NCBI chr 3:135,820,042...135,857,330
Ensembl chr 3:115,366,646...115,404,068
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G |
Bdkrb1 |
bradykinin receptor B1 |
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ISO |
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RGD |
PMID:20448019 |
RGD:7241551 |
NCBI chr 6:130,275,631...130,284,968
Ensembl chr 6:124,510,870...124,513,747
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G |
C1qa |
complement C1q A chain |
susceptibility |
ISO |
DNA:nonsense mutation (human) |
RGD |
PMID:8840296 |
RGD:1600549 |
NCBI chr 5:154,417,086...154,419,933
Ensembl chr 5:149,133,636...149,136,534
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G |
C3 |
complement C3 |
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IDA |
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RGD |
PMID:11950907 |
RGD:5129550 |
NCBI chr 9:2,174,412...2,201,339
Ensembl chr 9:2,087,437...2,114,429
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G |
C6 |
complement C6 |
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IAGP |
|
RGD |
PMID:10807586 |
RGD:1600489 |
NCBI chr 2:55,573,596...55,648,857
Ensembl chr 2:53,851,985...53,921,275
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G |
Ccl1 |
C-C motif chemokine ligand 1 |
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IEP ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:10385480 PMID:11157384 |
RGD:8693624 |
NCBI chr10:67,625,962...67,628,740
Ensembl chr10:67,128,331...67,131,159
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G |
Ccl2 |
C-C motif chemokine ligand 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10385480 |
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NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,005,424...67,007,226
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G |
Ccl3 |
C-C motif chemokine ligand 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:10385480 PMID:18941245 |
RGD:7241804 |
NCBI chr10:68,948,889...68,950,439
Ensembl chr10:68,451,388...68,452,938
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G |
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 chr10:68,963,893...68,965,728
Ensembl chr10:68,452,052...68,468,231
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G |
Ccl5 |
C-C motif chemokine ligand 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10385480 |
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NCBI chr10:68,820,330...68,824,906
Ensembl chr10:68,322,829...68,327,377
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G |
Ccl7 |
C-C motif chemokine ligand 7 |
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IDA ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:10385480 PMID:11157384 |
RGD:8693624 |
NCBI chr10:67,514,095...67,515,945
Ensembl chr10:67,016,446...67,018,303
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G |
Cd163 |
CD163 molecule |
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ISO |
associated with liver disease;protein:increased expression:blood serum (human) |
RGD |
PMID:26339412 |
RGD:11251207 |
NCBI chr 4:158,770,751...158,804,146
Ensembl chr 4:157,085,093...157,117,878
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G |
Cd59b |
CD59b molecule |
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IMP |
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RGD |
PMID:7523753 |
RGD:1600500 |
NCBI chr 3:110,914,008...110,932,489
Ensembl chr 3:90,459,162...90,478,847
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G |
Cfd |
complement factor D |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:14675043 |
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NCBI chr 7:10,463,773...10,465,496
Ensembl chr 7:9,813,150...9,815,053
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G |
Cfh |
complement factor H |
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ISO |
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RGD |
PMID:17344423 |
RGD:7365002 |
NCBI chr13:54,063,079...54,164,523
Ensembl chr13:51,511,828...51,613,838
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G |
Cfi |
complement factor I |
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ISS |
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MouseDO |
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NCBI chr 2:221,062,206...221,104,790
Ensembl chr 2:218,387,990...218,430,561
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G |
Cndp1 |
carnosine dipeptidase 1 |
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ISO |
|
RGD |
PMID:20851293 |
RGD:7207223 |
NCBI chr18:80,254,499...80,305,845
Ensembl chr18:77,984,907...78,007,765
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G |
Col4a3 |
collagen type IV alpha 3 chain |
|
IDA |
|
RGD |
PMID:11158397 |
RGD:1600928 |
NCBI chr 9:91,323,990...91,453,088
Ensembl chr 9:83,875,561...84,001,895
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G |
Col4a4 |
collagen type IV alpha 4 chain |
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ISO |
ClinVar Annotator: match by term: Glomerulonephritis |
ClinVar |
PMID:12028435 PMID:12325029 PMID:16467446 PMID:17216251 PMID:17942953 PMID:20301386 PMID:21196518 PMID:24046192 PMID:24052634 PMID:24854265 PMID:25307543 PMID:25741868 PMID:28492532 PMID:28704582 PMID:30506145 PMID:32939031 PMID:36239278 More...
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NCBI chr 9:91,281,324...91,323,577
Ensembl chr 9:83,755,515...83,875,876
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G |
Cpb2 |
carboxypeptidase B2 |
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ISO |
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RGD |
PMID:18612543 |
RGD:7243117 |
NCBI chr15:56,967,128...57,015,964
Ensembl chr15:50,557,717...50,606,556
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G |
Csf1 |
colony stimulating factor 1 |
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ISO |
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RGD |
PMID:11477167 |
RGD:7257579 |
NCBI chr 2:198,065,400...198,084,774
Ensembl chr 2:195,377,215...195,411,704
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G |
Cx3cl1 |
C-X3-C motif chemokine ligand 1 |
|
IEP |
mRNA, protein:increased expression:glomerulus, urine |
RGD |
PMID:14605272 |
RGD:4891995 |
NCBI chr19:10,233,326...10,244,856
Ensembl chr19:10,227,340...10,236,833
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G |
Cx3cr1 |
C-X3-C motif chemokine receptor 1 |
|
IMP IEP |
mRNA:increased expression:glomerulus |
RGD |
PMID:10432400 PMID:14605272 |
RGD:4892027, RGD:4891995 |
NCBI chr 8:128,661,294...128,679,048
Ensembl chr 8:119,782,595...119,800,014
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G |
Cxcr3 |
C-X-C motif chemokine receptor 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12517959 |
|
NCBI chr X:70,884,293...70,886,944
Ensembl chr X:66,844,318...66,846,969
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G |
Des |
desmin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20962747 |
|
NCBI chr 9:84,299,626...84,307,344
Ensembl chr 9:76,850,982...76,858,699
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G |
Elane |
elastase, neutrophil expressed |
|
ISO |
|
RGD |
PMID:19752320 |
RGD:6907051 |
NCBI chr 7:10,467,877...10,469,725
Ensembl chr 7:9,817,252...9,819,100
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G |
Ep300 |
E1A binding protein p300 |
|
ISO |
protein:increased expression:glomerulus, renal tubule (human) |
RGD |
PMID:17125594 |
RGD:7327154 |
NCBI chr 7:114,987,857...115,058,652
Ensembl chr 7:113,106,247...113,136,088 Ensembl chr 7:113,106,247...113,136,088
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G |
Esr1 |
estrogen receptor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20962747 |
|
NCBI chr 1:43,511,685...43,904,454
Ensembl chr 1:41,210,475...41,495,002
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G |
F2 |
coagulation factor II, thrombin |
|
ISO |
protein:increased expression;urine |
RGD |
PMID:17519558 PMID:15164604 |
RGD:6893586, RGD:6893593 |
NCBI chr 3:98,051,958...98,065,246
Ensembl chr 3:77,596,198...77,609,486
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G |
Fas |
Fas cell surface death receptor |
treatment |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:21880982 PMID:36999444 PMID:9466307 |
RGD:8686428 |
NCBI chr 1:241,212,155...241,245,774
Ensembl chr 1:231,798,960...231,832,591
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|
G |
Fbn1 |
fibrillin 1 |
|
IEP |
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 3:133,007,693...133,204,277
Ensembl chr 3:112,554,925...112,750,889
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G |
Fcgr2a |
Fc gamma receptor 2A |
|
ISO |
|
RGD |
PMID:19050295 |
RGD:5508439 |
NCBI chr13:85,813,516...85,830,269
Ensembl chr13:83,280,784...83,295,967
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G |
Fcgr2b |
Fc gamma receptor 2B |
|
ISO |
|
RGD |
PMID:19640933 |
RGD:5508403 |
NCBI chr13:85,725,897...85,740,517
Ensembl chr13:83,193,163...83,207,778
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G |
Fcgr3a |
Fc gamma receptor 3A |
|
ISO |
|
RGD |
PMID:19050295 |
RGD:5508439 |
NCBI chr13:85,782,636...85,792,656
Ensembl chr13:83,249,872...83,259,921
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G |
Fn1 |
fibronectin 1 |
disease_progression |
ISO |
|
RGD |
PMID:20484935 |
RGD:7206839 |
NCBI chr 9:80,645,507...80,714,200
Ensembl chr 9:73,196,044...73,264,678
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G |
Fos |
Fos proto-oncogene, AP-1 transcription factor subunit |
treatment |
IEP |
|
RGD |
PMID:11880336 PMID:31821871 |
RGD:7242278, RGD:405650596 |
NCBI chr 6:110,852,188...110,855,054
Ensembl chr 6:105,121,170...105,124,036
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G |
Gas6 |
growth arrest specific 6 |
|
IDA |
|
RGD |
PMID:11290560 |
RGD:1579882 |
NCBI chr16:82,747,676...82,778,090
Ensembl chr16:76,045,426...76,075,904
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G |
Gdnf |
glial cell derived neurotrophic factor |
treatment |
ISO |
|
RGD |
PMID:22105543 |
RGD:405866361 |
NCBI chr 2:58,621,327...58,647,242
Ensembl chr 2:56,895,010...56,917,209
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G |
Gja5 |
gap junction protein, alpha 5 |
|
IEP |
|
RGD |
PMID:22945766 |
RGD:7207390 |
NCBI chr 2:187,291,227...187,310,770
Ensembl chr 2:184,564,475...184,621,952
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G |
Ifng |
interferon gamma |
|
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 chr 7:55,789,180...55,793,216
Ensembl chr 7:53,903,337...53,907,375
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G |
Il10 |
interleukin 10 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10910440 |
|
NCBI chr13:45,024,921...45,029,586
Ensembl chr13:42,472,839...42,477,313
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G |
Il18 |
interleukin 18 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:18462998 |
|
NCBI chr 8:59,802,072...59,829,275
Ensembl chr 8:50,906,960...50,932,887
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G |
Il1a |
interleukin 1 alpha |
|
ISO |
associated with Malaria |
RGD |
PMID:10469263 |
RGD:6907108 |
NCBI chr 3:136,979,804...136,990,236
Ensembl chr 3:116,526,604...116,536,822
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G |
Il1b |
interleukin 1 beta |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9403216 PMID:10910440 |
|
NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:116,577,010...116,583,415
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G |
Il1r1 |
interleukin 1 receptor type 1 |
|
ISO |
|
RGD |
PMID:17500042 |
RGD:7207036 |
NCBI chr 9:50,000,558...50,076,579
Ensembl chr 9:42,504,735...42,579,937
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G |
Il1rn |
interleukin 1 receptor antagonist |
|
ISO |
mouse model treated with human protein mRNA:increased expression:kidney (mouse) |
RGD |
PMID:22241891 PMID:21304992 |
RGD:6906885, RGD:6906960 |
NCBI chr 3:27,509,836...27,525,738
Ensembl chr 3:7,111,550...7,127,445
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G |
Il2 |
interleukin 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9403216 PMID:10910440 |
|
NCBI chr 2:121,932,968...121,937,672
Ensembl chr 2:120,004,862...120,009,566
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G |
Il2ra |
interleukin 2 receptor subunit alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10910440 |
|
NCBI chr17:71,759,802...71,808,475
Ensembl chr17:66,849,974...66,898,697
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G |
Il6 |
interleukin 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9403216 |
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NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,213,394...5,219,178
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G |
Inf2 |
inverted formin 2 |
|
ISO |
ClinVar Annotator: match by term: Glomerulonephritis |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 6:131,649,162...131,675,944
Ensembl chr 6:131,649,211...131,675,941
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G |
Itga3 |
integrin subunit alpha 3 |
|
IEP |
protein:decreased expression:glomerulus (rat) |
RGD |
PMID:19662603 |
RGD:2325666 |
NCBI chr10:80,486,998...80,522,548
Ensembl chr10:79,990,161...80,022,118
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G |
Itgam |
integrin subunit alpha M |
|
ISO |
|
RGD |
PMID:19752320 |
RGD:6907051 |
NCBI chr 1:192,089,496...192,139,947
Ensembl chr 1:182,659,000...182,709,503
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G |
Itgb1 |
integrin subunit beta 1 |
|
IEP |
protein:decreased expression:glomerulus (rat) |
RGD |
PMID:19662603 |
RGD:2325666 |
NCBI chr19:73,602,277...73,650,271
Ensembl chr19:56,705,171...56,753,195
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G |
Itgb2 |
integrin subunit beta 2 |
|
ISO |
|
RGD |
PMID:19752320 PMID:15277234 |
RGD:6907051, RGD:6907066 |
NCBI chr20:11,061,009...11,097,242
Ensembl chr20:11,061,430...11,097,600
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G |
Itgb3 |
integrin subunit beta 3 |
|
ISO IEP |
|
RGD |
PMID:11051455 PMID:8083378 |
RGD:6907411, RGD:6907420 |
NCBI chr10:90,009,927...90,067,787
Ensembl chr10:89,509,989...89,564,679
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G |
Jund |
JunD proto-oncogene, AP-1 transcription factor subunit |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18443593 |
|
NCBI chr16:18,768,093...18,769,771
Ensembl chr16:18,734,122...18,735,799
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G |
Klkb1 |
kallikrein B1 |
|
ISO |
protein:increased expression:plasma: |
RGD |
PMID:2173275 |
RGD:7327152 |
NCBI chr16:53,690,180...53,714,570
Ensembl chr16:46,958,707...46,982,053
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G |
Lamb2 |
laminin subunit beta 2 |
|
ISO |
ClinVar Annotator: match by term: Glomerulonephritis |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 8:118,056,899...118,069,090
Ensembl chr 8:109,178,409...109,190,549
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G |
Ltbp1 |
latent transforming growth factor beta binding protein 1 |
|
IEP |
|
RGD |
PMID:16282705 |
RGD:7387262 |
NCBI chr 6:25,781,625...26,177,346
Ensembl chr 6:20,029,629...20,425,349
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G |
Ltc4s |
leukotriene C4 synthase |
|
IEP |
protein:altered activity:kidney, cortex (rat) |
RGD |
PMID:7827126 |
RGD:2316641 |
NCBI chr10:35,060,002...35,066,466
Ensembl chr10:34,560,360...34,562,651
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G |
Mapk1 |
mitogen activated protein kinase 1 |
|
ISO |
|
RGD |
PMID:20203158 |
RGD:7243972 |
NCBI chr11:97,462,025...97,529,193
Ensembl chr11:83,957,813...84,023,616
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G |
Mir100 |
microRNA 100 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25758243 |
|
NCBI chr 8:41,901,225...41,901,304
Ensembl chr 8:41,901,225...41,901,304
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G |
Mir10b |
microRNA 10b |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25758243 |
|
NCBI chr 3:59,628,438...59,628,546
Ensembl chr 3:59,628,438...59,628,546
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G |
Mmp3 |
matrix metallopeptidase 3 |
|
ISO IEP |
|
RGD |
PMID:15034162 PMID:23224597 |
RGD:7241253, RGD:8694105 |
NCBI chr 8:12,925,267...12,938,828
Ensembl chr 8:4,640,416...4,653,961
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G |
Mpo |
myeloperoxidase |
disease_progression |
ISO |
|
RGD |
PMID:17267745 PMID:19238910 |
RGD:7174702, RGD:7174705 |
NCBI chr10:73,092,124...73,102,057
Ensembl chr10:72,594,661...72,604,819
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G |
Ms4a1 |
membrane spanning 4-domains A1 |
|
IEP |
protein:increased expression:kidney, glomerulus (rat) |
RGD |
PMID:7538648 |
RGD:2316995 |
NCBI chr 1:217,331,274...217,351,934
Ensembl chr 1:207,906,374...207,918,512
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G |
Mthfr |
methylenetetrahydrofolate reductase |
|
ISO |
DNA:transition:cds:g.677C>T (human) |
RGD |
PMID:22111818 |
RGD:6893468 |
NCBI chr 5:163,748,346...163,768,141
Ensembl chr 5:158,465,296...158,483,797
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G |
Myh9 |
myosin, heavy chain 9 |
|
ISO |
ClinVar Annotator: match by term: Glomerulonephritis |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 7:111,224,291...111,304,963
Ensembl chr 7:109,343,706...109,424,457
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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 2:192,589,580...192,642,971
Ensembl chr 2:189,901,058...189,954,452
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G |
Nppa |
natriuretic peptide A |
|
ISO |
associated with Streptococcal Infections;protein:increased expression:plasma |
RGD |
PMID:12654066 |
RGD:7248663 |
NCBI chr 5:163,712,184...163,713,493
Ensembl chr 5:158,429,042...158,430,351
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G |
Parp1 |
poly (ADP-ribose) polymerase 1 |
severity |
ISO |
|
RGD |
PMID:19454727 |
RGD:5684011 |
NCBI chr13:94,839,484...94,871,295
Ensembl chr13:92,307,586...92,339,404
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G |
Pdgfb |
platelet derived growth factor subunit B |
treatment |
IMP |
|
RGD |
PMID:11316849 |
RGD:10449490 |
NCBI chr 7:113,419,882...113,438,343
Ensembl chr 7:111,540,345...111,557,984
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G |
Pdgfd |
platelet derived growth factor D |
|
IMP |
|
RGD |
PMID:21866094 |
RGD:9854633 |
NCBI chr 8:11,773,335...12,007,277
Ensembl chr 8:3,488,423...3,722,395
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G |
Pla2g7 |
phospholipase A2 group VII |
|
ISO |
|
RGD |
PMID:8730430 |
RGD:7248794 |
NCBI chr 9:24,859,491...24,901,747
Ensembl chr 9:17,362,225...17,404,476
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G |
Plce1 |
phospholipase C, epsilon 1 |
|
ISO |
ClinVar Annotator: match by term: Glomerulonephritis |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:245,655,855...245,964,966
Ensembl chr 1:236,244,683...236,551,438
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G |
Pomc |
proopiomelanocortin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:4368615 PMID:6300362 |
|
NCBI chr 6:32,659,137...32,665,175
Ensembl chr 6:26,939,837...26,945,664
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G |
Pparg |
peroxisome proliferator-activated receptor gamma |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:11318962 |
|
NCBI chr 4:150,095,743...150,221,104
Ensembl chr 4:148,423,194...148,548,468
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G |
Prf1 |
perforin 1 |
|
IMP |
|
RGD |
PMID:17622272 |
RGD:6482824 |
NCBI chr20:29,789,040...29,794,550
Ensembl chr20:29,246,202...29,251,701
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G |
Ptafr |
platelet-activating factor receptor |
treatment |
IMP |
|
RGD |
PMID:1668710 |
RGD:10041057 |
NCBI chr 5:150,049,322...150,079,060
Ensembl chr 5:144,765,976...144,795,251
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G |
Ptk2b |
protein tyrosine kinase 2 beta |
|
ISO |
protein:increased expression:glomerulus |
RGD |
PMID:11774117 |
RGD:729912 |
NCBI chr15:44,536,275...44,656,754
Ensembl chr15:40,360,723...40,481,282
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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 chr 1:215,406,138...215,409,686
Ensembl chr 1:205,977,060...205,980,610
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G |
Serpine1 |
serpin family E member 1 |
treatment |
ISO |
|
RGD |
PMID:12897205 |
RGD:13208810 |
NCBI chr12:25,237,977...25,248,356
Ensembl chr12:19,601,272...19,611,657
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G |
Smad1 |
SMAD family member 1 |
|
IEP |
protein:increased phosphorylation:glomerulus |
RGD |
PMID:15591053 |
RGD:1643235 |
NCBI chr19:45,417,430...45,477,962
Ensembl chr19:28,513,131...28,573,651
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G |
Spp1 |
secreted phosphoprotein 1 |
disease_progression |
IMP |
|
RGD |
PMID:20720406 |
RGD:6903272 |
NCBI chr14:5,613,569...5,620,695
Ensembl chr14:5,308,885...5,315,162
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G |
Tbxas1 |
thromboxane A synthase 1 |
|
IDA |
|
RGD |
PMID:10560941 |
RGD:1601461 |
NCBI chr 4:68,631,841...68,803,959
Ensembl chr 4:67,665,007...67,837,096
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G |
Tf |
transferrin |
severity |
ISO |
|
RGD |
PMID:22607047 |
RGD:7244194 |
NCBI chr 8:112,668,667...112,695,376
Ensembl chr 8:103,767,995...103,816,511
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G |
Tlr2 |
toll-like receptor 2 |
|
ISO |
|
RGD |
PMID:16849506 |
RGD:7241071 |
NCBI chr 2:171,499,189...171,504,831
Ensembl chr 2:169,197,419...169,206,630
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G |
Tlr4 |
toll-like receptor 4 |
|
ISO |
|
RGD |
PMID:20844472 PMID:16849506 |
RGD:4144104, RGD:7241071 |
NCBI chr 5:85,161,247...85,174,882
Ensembl chr 5:80,145,826...80,159,628
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G |
Tnf |
tumor necrosis factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9403216 PMID:10910440 |
|
NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629
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G |
Tnfrsf1a |
TNF receptor superfamily member 1A |
disease_progression treatment |
ISO |
protein:increased expression:urine |
RGD |
PMID:20525973 PMID:23400706 |
RGD:7245516, RGD:7245540 |
NCBI chr 4:159,837,119...159,849,817
Ensembl chr 4:158,150,820...158,163,591
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G |
Tnfrsf1b |
TNF receptor superfamily member 1B |
treatment |
ISO |
|
RGD |
PMID:15841213 PMID:22449555 PMID:23400706 |
RGD:7245530, RGD:7245546, RGD:7245540 |
NCBI chr 5:162,356,250...162,387,411
Ensembl chr 5:157,070,642...157,104,206
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G |
Tpo |
thyroid peroxidase |
|
ISO |
|
RGD |
PMID:8393543 |
RGD:7207483 |
NCBI chr 6:52,425,998...52,495,793
Ensembl chr 6:46,698,414...46,768,199
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G |
Vcam1 |
vascular cell adhesion molecule 1 |
|
ISO |
protein:increased expression:kidney |
RGD |
PMID:18574676 |
RGD:7241215 |
NCBI chr 2:206,723,050...206,742,783
Ensembl chr 2:204,038,114...204,057,958
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G |
Vegfa |
vascular endothelial growth factor A |
treatment |
ISO |
|
RGD |
PMID:15195119 |
RGD:7421594 |
NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:14,955,300...14,970,641
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G |
Wt1 |
WT1 transcription factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20962747 |
|
NCBI chr 3:112,019,721...112,068,454
Ensembl chr 3:91,567,001...91,613,643
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G |
Cfh |
complement factor H |
|
ISO |
DNA:SNPs,Haplotype:: |
RGD |
PMID:17517971 PMID:17517971 |
RGD:7364995, RGD:7364995 |
NCBI chr13:54,063,079...54,164,523
Ensembl chr13:51,511,828...51,613,838
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G |
Atic |
5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase |
|
ISO |
ClinVar Annotator: match by term: Glomerulopathy with fibronectin deposits 2 |
ClinVar |
PMID:25741868 PMID:28492532 PMID:29100092 PMID:32200603 |
|
NCBI chr 9:80,614,311...80,634,360
Ensembl chr 9:73,164,846...73,184,889
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G |
Fn1 |
fibronectin 1 |
|
ISO |
ClinVar Annotator: match by term: Glomerulopathy with fibronectin deposits 2 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:1544672 PMID:7564073 PMID:7747733 PMID:9536098 PMID:12042895 PMID:17576681 PMID:18268355 PMID:25741868 PMID:28492532 PMID:29100092 PMID:30599297 PMID:32200603 PMID:36774238 More...
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NCBI chr 9:80,645,507...80,714,200
Ensembl chr 9:73,196,044...73,264,678
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G |
Inf2 |
inverted formin 2 |
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ISO |
ClinVar Annotator: match by term: Glomerulopathy with fibronectin deposits 2 |
ClinVar |
PMID:25741868 |
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NCBI chr 6:131,649,162...131,675,944
Ensembl chr 6:131,649,211...131,675,941
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G |
Ace |
angiotensin I converting enzyme |
treatment |
IMP |
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RGD |
PMID:21718676 |
RGD:12879389 |
NCBI chr10:91,410,129...91,430,246
Ensembl chr10:90,910,316...90,931,131
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G |
Ager |
advanced glycosylation end product-specific receptor |
treatment |
ISO |
associated with Diabetic Nephropathies |
RGD |
PMID:23046363 PMID:20554645 |
RGD:7243247, RGD:7244139 |
NCBI chr20:4,152,758...4,155,956
Ensembl chr20:4,147,890...4,151,078
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G |
Agtr1a |
angiotensin II receptor, type 1a |
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IEP |
mRNA:decreased expression:kidney |
RGD |
PMID:12495295 |
RGD:6903859 |
NCBI chr17:34,383,397...34,435,523
Ensembl chr17:34,174,429...34,226,946
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G |
Agtr2 |
angiotensin II receptor, type 2 |
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IMP ISO IEP |
associated with Kidney Failure, Chronic mRNA:increased expression:kidney |
RGD |
PMID:20042458 PMID:20631980 PMID:12495295 |
RGD:6903284, RGD:6903882, RGD:6903859 |
NCBI chr X:116,914,320...116,918,504
Ensembl chr X:112,120,228...112,124,057
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G |
Apoe |
apolipoprotein E |
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IEP IDA |
protein:increased expression:renal glomerulus (rat) |
RGD |
PMID:22207560 PMID:21907828 |
RGD:6903199, RGD:6903285 |
NCBI chr 1:88,481,889...88,485,816
Ensembl chr 1:79,353,916...79,357,932
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G |
Col3a1 |
collagen type III alpha 1 chain |
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IEP |
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RGD |
PMID:20610530 |
RGD:7257557 |
NCBI chr 9:54,866,646...54,902,578
Ensembl chr 9:47,374,593...47,410,547
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G |
Esr2 |
estrogen receptor 2 |
susceptibility |
ISO |
protein:decreased expression:renal glomerulus (mouse) |
RGD |
PMID:12000739 |
RGD:7364801 |
NCBI chr 6:100,589,553...100,645,240
Ensembl chr 6:94,809,547...94,908,919
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G |
Fbn1 |
fibrillin 1 |
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ISO |
associated with Hypertension |
RGD |
PMID:16380460 |
RGD:7365080 |
NCBI chr 3:133,007,693...133,204,277
Ensembl chr 3:112,554,925...112,750,889
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G |
Hbegf |
heparin-binding EGF-like growth factor |
induced |
ISO |
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RGD |
PMID:16107576 |
RGD:1556472 |
NCBI chr18:28,380,337...28,390,220
Ensembl chr18:28,105,760...28,116,441
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G |
Il1b |
interleukin 1 beta |
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IDA |
associated with Hypertension |
RGD |
PMID:19948880 |
RGD:7175503 |
NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:116,577,010...116,583,415
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G |
Mmp1 |
matrix metallopeptidase 1 |
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IDA IEP |
associated with Hyperhomocysteinemia protein:decreased expression:kidney (rat) |
RGD |
PMID:20406136 PMID:21275176 |
RGD:7207203, RGD:7207363 |
NCBI chr 8:12,943,453...12,963,966
Ensembl chr 8:4,658,588...4,679,097
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G |
Mmp9 |
matrix metallopeptidase 9 |
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IDA IEP |
associated with Hyperhomocysteinemia associated with Obesity;mRNA:decreased expression:glomerulus |
RGD |
PMID:20406136 PMID:9300240 |
RGD:7207203, RGD:8547929 |
NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:153,683,858...153,692,120
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G |
Nphs1 |
NPHS1 adhesion molecule, nephrin |
treatment |
ISO |
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RGD |
PMID:22125642 |
RGD:40902998 |
NCBI chr 1:94,848,261...94,876,522
Ensembl chr 1:85,720,812...85,749,078
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G |
Pax2 |
paired box 2 |
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ISO |
ClinVar Annotator: match by term: Glomerulosclerosis |
ClinVar |
PMID:3377002 PMID:8589702 PMID:9106533 PMID:11093271 PMID:11241473 PMID:11461952 PMID:22213154 PMID:22350371 PMID:24429398 PMID:24676634 PMID:25741868 PMID:27226968 PMID:28492532 PMID:31001663 PMID:32203253 PMID:33532864 PMID:34696790 PMID:35444690 More...
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NCBI chr 1:253,555,447...253,646,623
Ensembl chr 1:243,616,606...243,695,321
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G |
Pla2g7 |
phospholipase A2 group VII |
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ISO |
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RGD |
PMID:16213192 |
RGD:7248790 |
NCBI chr 9:24,859,491...24,901,747
Ensembl chr 9:17,362,225...17,404,476
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G |
Plekha7 |
pleckstrin homology domain containing A7 |
ameliorates |
IMP |
compared to wild type |
RGD |
PMID:25136115 PMID:25136115 |
RGD:11079199, RGD:11079199 |
NCBI chr 1:170,364,524...170,547,843
Ensembl chr 1:170,365,135...170,547,775
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G |
Plekha7em4Mcwi |
pleckstrin homology domain containing, family A member 7; zinc finger nuclease induced mutant 4, Medical College of Wisconsin |
ameliorates |
IMP |
compared to wild type |
RGD |
PMID:25136115 PMID:25136115 |
RGD:11079199, RGD:11079199 |
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G |
Pparg |
peroxisome proliferator-activated receptor gamma |
treatment |
IDA |
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RGD |
PMID:11318962 |
RGD:8553043 |
NCBI chr 4:150,095,743...150,221,104
Ensembl chr 4:148,423,194...148,548,468
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G |
Rgs2 |
regulator of G-protein signaling 2 |
susceptibility |
IEP |
associated with Hypertension |
RGD |
PMID:26606876 |
RGD:13524570 |
NCBI chr13:58,350,063...58,352,666
Ensembl chr13:55,798,829...55,802,385
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G |
Rnls |
renalase, FAD-dependent amine oxidase |
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IEP |
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RGD |
PMID:24022426 |
RGD:7327155 |
NCBI chr 1:240,450,702...240,723,472
Ensembl chr 1:231,037,486...231,309,823
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G |
Serpine1 |
serpin family E member 1 |
treatment |
IDA IEP |
mRNA, protein:increased expression:kidney (rat) |
RGD |
PMID:26999660 PMID:27129290 |
RGD:11073618, RGD:11073688 |
NCBI chr12:25,237,977...25,248,356
Ensembl chr12:19,601,272...19,611,657
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G |
Shc1 |
SHC adaptor protein 1 |
ameliorates |
IMP |
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RGD |
PMID:27270176 |
RGD:12792230 |
NCBI chr 2:177,135,649...177,147,257
Ensembl chr 2:174,837,930...174,849,536
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G |
Shc1em4Mcwi |
SHC adaptor protein 1; ZFN induced mutant 4, Medical College of Wisconsin |
ameliorates |
IMP |
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RGD |
PMID:27270176 |
RGD:12792230 |
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G |
Slc2a1 |
solute carrier family 2 member 1 |
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ISO |
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RGD |
PMID:19918242 |
RGD:12879501 |
NCBI chr 5:138,002,522...138,030,742
Ensembl chr 5:132,717,196...132,745,416
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G |
Spp1 |
secreted phosphoprotein 1 |
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IEP |
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RGD |
PMID:12675855 |
RGD:6903837 |
NCBI chr14:5,613,569...5,620,695
Ensembl chr14:5,308,885...5,315,162
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G |
Synpo |
synaptopodin |
treatment |
ISO |
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RGD |
PMID:22125642 |
RGD:40902998 |
NCBI chr18:56,326,369...56,347,359
Ensembl chr18:54,026,152...54,102,126
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G |
Tnfrsf1b |
TNF receptor superfamily member 1B |
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ISO |
associated with Hypertension |
RGD |
PMID:23389459 |
RGD:7245475 |
NCBI chr 5:162,356,250...162,387,411
Ensembl chr 5:157,070,642...157,104,206
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G |
Ccl2 |
C-C motif chemokine ligand 2 |
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IEP |
mRNA, protein:increased expression:kidney, serum (rat) |
RGD |
PMID:20231821 |
RGD:11526149 |
NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,005,424...67,007,226
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G |
Agt |
angiotensinogen |
treatment |
IEP |
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RGD |
PMID:22089474 |
RGD:8548895 |
NCBI chr19:69,426,540...69,447,017
Ensembl chr19:52,529,185...52,540,977
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G |
Agtr1a |
angiotensin II receptor, type 1a |
treatment |
IMP |
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RGD |
PMID:22089474 |
RGD:8548895 |
NCBI chr17:34,383,397...34,435,523
Ensembl chr17:34,174,429...34,226,946
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G |
Cfl1 |
cofilin 1 |
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IEP |
protein:increased phosphorylation:kidney (rat) |
RGD |
PMID:26450610 |
RGD:11520804 |
NCBI chr 1:212,227,124...212,230,656
Ensembl chr 1:202,786,627...202,817,587
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G |
Col1a1 |
collagen type I alpha 1 chain |
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IEP |
mRNA:increased expression:juxtamedullary cortex (rat) |
RGD |
PMID:17977875 |
RGD:2290351 |
NCBI chr10:80,380,458...80,397,461
Ensembl chr10:79,883,622...79,900,624
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G |
Hp |
haptoglobin |
treatment |
IEP |
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RGD |
PMID:24029866 |
RGD:11041817 |
NCBI chr19:54,449,151...54,453,701
Ensembl chr19:37,539,627...37,544,523
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G |
Mmp2 |
matrix metallopeptidase 2 |
ameliorates |
IMP |
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RGD |
PMID:37643020 |
RGD:401827835 |
NCBI chr19:30,327,643...30,355,856
Ensembl chr19:14,154,657...14,182,870
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G |
Mmp2em2Mcwi |
matrix metallopeptidase 2; zinc finger nuclease induced mutant 2, Medical College of Wisconsin |
ameliorates |
IMP |
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RGD |
PMID:37643020 |
RGD:401827835 |
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G |
Nppb |
natriuretic peptide B |
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IMP |
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RGD |
PMID:26063669 |
RGD:12910116 |
NCBI chr 5:163,699,955...163,701,314
Ensembl chr 5:158,416,866...158,418,168
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G |
Nppbem2Mcwi |
natriuretic peptide B; zinc finger nuclease induced mutant 2, Medical College of Wisconsin |
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IMP |
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RGD |
PMID:26063669 |
RGD:12910116 |
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G |
Postn |
periostin |
disease_progression |
IEP |
mRNA,protein:increased expression:kidney: |
RGD |
PMID:22403621 |
RGD:10041032 |
NCBI chr 2:140,677,774...140,709,304
Ensembl chr 2:138,527,696...138,559,099
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G |
Ppara |
peroxisome proliferator activated receptor alpha |
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IDA |
Strain: SHRSP |
RGD |
PMID:20671072 |
RGD:5509943 |
NCBI chr 7:118,712,261...118,780,723
Ensembl chr 7:116,832,756...116,895,346
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G |
Rag1 |
recombination activating 1 |
ameliorates |
IMP |
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RGD |
PMID:23364523 PMID:23364523 |
RGD:7207429, RGD:7207429 |
NCBI chr 3:108,372,087...108,383,184
Ensembl chr 3:87,917,004...87,928,291
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G |
Rag1em1Mcwi |
recombination activating gene 1; zinc finger nuclease induced mutant 1, Medical College of Wisconsin |
ameliorates |
IMP |
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RGD |
PMID:23364523 |
RGD:7207429 |
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G |
Shc1 |
SHC adaptor protein 1 |
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IMP IEP |
protein:increased expression:kidney |
RGD |
PMID:27270176 PMID:27270176 |
RGD:12792230, RGD:12792230 |
NCBI chr 2:177,135,649...177,147,257
Ensembl chr 2:174,837,930...174,849,536
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G |
Shc1em5Mcwi |
SHC adaptor protein 1; ZFN induced mutant 5, Medical College of Wisconsin |
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IMP |
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RGD |
PMID:27270176 |
RGD:12792230 |
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G |
Sirt6 |
sirtuin 6 |
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ISO |
protein:decreased expression:kidney |
RGD |
PMID:30894089 |
RGD:155260334 |
NCBI chr 7:8,733,056...8,738,543
Ensembl chr 7:8,082,364...8,098,914
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G |
Sox18 |
SRY-box transcription factor 18 |
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ISO |
ClinVar Annotator: match by term: Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome |
OMIM ClinVar |
PMID:2484451 PMID:12740761 PMID:24697860 PMID:25741868 PMID:28492532 PMID:29307792 More...
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NCBI chr 3:189,163,000...189,164,802
Ensembl chr 3:168,785,490...168,787,290
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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 chr10:91,410,129...91,430,246
Ensembl chr10:90,910,316...90,931,131
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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 1:183,564,652...183,591,328
Ensembl chr 1:174,133,288...174,160,184
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G |
Adam10 |
ADAM metallopeptidase domain 10 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:32715474 |
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NCBI chr 8:80,226,862...80,358,728
Ensembl chr 8:71,345,837...71,477,889
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G |
Add1 |
adducin 1 |
disease_progression |
ISO |
DNA:polymorphism:cds:rs4961(human) |
RGD |
PMID:19838659 |
RGD:7174725 |
NCBI chr14:80,333,242...80,401,641
Ensembl chr14:76,108,654...76,167,182
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G |
Add2 |
adducin 2 |
disease_progression |
ISO |
DNA:polymorphism:cds: rs4984(human) |
RGD |
PMID:19838659 |
RGD:7174725 |
NCBI chr 4:120,001,977...120,101,090
Ensembl chr 4:118,497,416...118,538,505
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G |
Agt |
angiotensinogen |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9259580 |
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NCBI chr19:69,426,540...69,447,017
Ensembl chr19:52,529,185...52,540,977
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G |
Agtr1a |
angiotensin II receptor, type 1a |
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ISO |
protein:increased expression:kidney tubule |
RGD |
PMID:15930094 |
RGD:6903851 |
NCBI chr17:34,383,397...34,435,523
Ensembl chr17:34,174,429...34,226,946
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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:116,914,320...116,918,504
Ensembl chr X:112,120,228...112,124,057
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G |
Aurkb |
aurora kinase B |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25133636 |
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NCBI chr10:54,243,116...54,249,675
Ensembl chr10:53,745,142...53,750,837
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G |
B4galt1 |
beta-1,4-galactosyltransferase 1 |
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ISS |
OMIM:161950 | OMIM:616818 |
MouseDO |
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NCBI chr 5:60,731,601...60,778,456
Ensembl chr 5:55,935,615...55,982,461
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G |
C1qa |
complement C1q A chain |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8840296 PMID:25133636 |
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NCBI chr 5:154,417,086...154,419,933
Ensembl chr 5:149,133,636...149,136,534
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G |
C1qb |
complement C1q B chain |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25133636 |
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NCBI chr 5:154,402,276...154,407,827
Ensembl chr 5:149,118,846...149,124,407
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G |
C2 |
complement C2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25133636 |
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NCBI chr20:3,944,722...3,975,006
Ensembl chr20:3,951,474...3,976,505
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G |
C3 |
complement C3 |
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ISO |
mRNA,protein:increased expression, increased activity:kidney |
RGD |
PMID:11287758 |
RGD:7175543 |
NCBI chr 9:2,174,412...2,201,339
Ensembl chr 9:2,087,437...2,114,429
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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 3:29,569,907...29,578,402
Ensembl chr 3:9,171,815...9,180,237
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G |
Ccl2 |
C-C motif chemokine ligand 2 |
|
IEP |
protein:increased expression:kidney |
RGD |
PMID:18433541 |
RGD:2307041 |
NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,005,424...67,007,226
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G |
Ccl20 |
C-C motif chemokine ligand 20 |
disease_progression |
ISO |
|
RGD |
PMID:23192593 |
RGD:7483632 |
NCBI chr 9:91,837,139...91,839,736
Ensembl chr 9:84,388,904...84,391,629
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G |
Ccr6 |
C-C motif chemokine receptor 6 |
disease_progression |
ISO |
|
RGD |
PMID:23192593 |
RGD:7483632 |
NCBI chr 1:55,022,037...55,055,857
Ensembl chr 1:52,474,168...52,498,603
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G |
Cd14 |
CD14 molecule |
disease_progression |
ISO |
DNA:polymorphism:promoter:c. -159C>T (human) |
RGD |
PMID:12566518 |
RGD:7204499 |
NCBI chr18:28,609,558...28,611,409
Ensembl chr18:28,335,340...28,337,261
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G |
Cd163 |
CD163 molecule |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25133636 |
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NCBI chr 4:158,770,751...158,804,146
Ensembl chr 4:157,085,093...157,117,878
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G |
Cd44 |
CD44 molecule |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25133636 |
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NCBI chr 3:109,610,824...109,699,776
Ensembl chr 3:89,157,058...89,244,620
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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 chr20:3,975,271...3,981,138
Ensembl chr20:3,951,474...3,976,505
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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 chr13:53,946,298...53,961,282
Ensembl chr13:51,369,211...51,410,592
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G |
Chga |
chromogranin A |
|
ISO |
associated with Hypertension;DNA:polymorphism:promoter:-415T>C (human) |
RGD |
PMID:20113265 |
RGD:6906902 |
NCBI chr 6:127,460,895...127,472,238
Ensembl chr 6:121,696,051...121,707,398
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G |
Coro1c |
coronin 1C |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25133636 |
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NCBI chr12:48,373,573...48,445,718
Ensembl chr12:42,712,991...42,785,179
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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 9:83,178,645...83,185,017
Ensembl chr 9:75,729,115...75,739,425
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G |
Defa5 |
defensin alpha 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22197929 PMID:25305756 |
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NCBI chr16:77,044,994...77,047,318
Ensembl chr16:70,342,530...70,344,836
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G |
Fabp1 |
fatty acid binding protein 1 |
|
ISO |
protein:increased expression:urine (human) |
RGD |
PMID:16118482 |
RGD:1578453 |
NCBI chr 4:104,744,302...104,753,119
Ensembl chr 4:103,191,006...103,194,788
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G |
Fas |
Fas cell surface death receptor |
treatment |
IDA |
|
RGD |
PMID:29844269 |
RGD:13792576 |
NCBI chr 1:241,212,155...241,245,774
Ensembl chr 1:231,798,960...231,832,591
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G |
Fcar |
Fc alpha receptor |
|
ISO |
|
RGD |
PMID:22451718 PMID:21985370 |
RGD:7242063, RGD:7242167 |
NCBI chr 1:78,669,119...78,703,223
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G |
Fcgr3a |
Fc gamma receptor 3A |
disease_progression |
ISO |
DNA:polymorphism:exon:p.F176V(human) |
RGD |
PMID:16221721 |
RGD:5508463 |
NCBI chr13:85,782,636...85,792,656
Ensembl chr13:83,249,872...83,259,921
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G |
Fn1 |
fibronectin 1 |
|
ISO |
protein:increased expression:kidney |
RGD |
PMID:15925904 |
RGD:7206844 |
NCBI chr 9:80,645,507...80,714,200
Ensembl chr 9:73,196,044...73,264,678
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G |
Foxm1 |
forkhead box M1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25133636 |
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NCBI chr 4:163,325,628...163,338,100
Ensembl chr 4:161,638,816...161,650,684
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G |
Gpr183 |
G protein-coupled receptor 183 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25133636 |
|
NCBI chr15:105,445,129...105,457,192
Ensembl chr15:99,036,367...99,050,559
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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 chr10:31,619,914...31,652,955
Ensembl chr10:31,119,088...31,151,698
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G |
Hpse |
heparanase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25133636 |
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NCBI chr14:9,200,971...9,241,377
Ensembl chr14:8,896,593...8,937,010
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G |
Igf1r |
insulin-like growth factor 1 receptor |
|
ISO |
DNA: snp::rs2229765 |
RGD |
PMID:21047277 |
RGD:7242795 |
NCBI chr 1:130,959,787...131,248,664
Ensembl chr 1:121,550,743...121,831,777
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G |
Il18 |
interleukin 18 |
|
ISO |
|
RGD |
PMID:22518072 |
RGD:6893446 |
NCBI chr 8:59,802,072...59,829,275
Ensembl chr 8:50,906,960...50,932,887
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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 3:136,979,804...136,990,236
Ensembl chr 3:116,526,604...116,536,822
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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 3:137,030,200...137,036,581
Ensembl chr 3:116,577,010...116,583,415
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G |
Il1rn |
interleukin 1 receptor antagonist |
susceptibility |
ISO |
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 3:27,509,836...27,525,738
Ensembl chr 3:7,111,550...7,127,445
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G |
Kif15 |
kinesin family member 15 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25133636 |
|
NCBI chr 8:131,479,340...131,550,209
Ensembl chr 8:122,601,897...122,672,750
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G |
Lair1 |
leukocyte-associated immunoglobulin-like receptor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25133636 |
|
NCBI chr 1:79,140,850...79,261,546
Ensembl chr 1:70,157,681...70,185,807
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G |
Laptm5 |
lysosomal protein transmembrane 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25133636 |
|
NCBI chr 5:148,371,880...148,393,927
Ensembl chr 5:143,087,759...143,109,807
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G |
Lcn2 |
lipocalin 2 |
|
ISO |
protein:increased expression:urine: |
RGD |
PMID:21467131 |
RGD:7245983 |
NCBI chr 3:36,078,432...36,081,851
Ensembl chr 3:15,680,687...15,684,095
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G |
Lhfpl2 |
LHFPL tetraspan subfamily member 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25133636 |
|
NCBI chr 2:27,016,404...27,169,830
Ensembl chr 2:25,281,901...25,427,950
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G |
Man2b1 |
mannosidase, alpha, class 2B, member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25133636 |
|
NCBI chr19:39,959,964...39,979,299
Ensembl chr19:23,055,097...23,074,389
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G |
Mertk |
MER proto-oncogene, tyrosine kinase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25133636 |
|
NCBI chr 3:136,391,936...136,498,366
Ensembl chr 3:115,939,351...116,046,554
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G |
Mir20a |
microRNA 20a |
disease_progression |
ISO |
|
RGD |
PMID:29459010 |
RGD:25823149 |
NCBI chr15:98,588,303...98,588,387
Ensembl chr15:92,181,084...92,181,168
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G |
Mmp14 |
matrix metallopeptidase 14 |
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IEP |
mRNA:increased expression:glomerulus |
RGD |
PMID:9848780 |
RGD:2314955 |
NCBI chr15:31,857,824...31,867,049
Ensembl chr15:27,887,727...27,899,864
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G |
Ms4a6a |
membrane spanning 4-domains A6A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25133636 |
|
NCBI chr 1:217,826,261...217,839,606
Ensembl chr 1:208,401,466...208,414,758
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G |
Mtr |
5-methyltetrahydrofolate-homocysteine methyltransferase |
|
ISO |
DNA:polymorphism:Cds :2756A>G(human) |
RGD |
PMID:21737517 |
RGD:7207085 |
NCBI chr17:62,911,705...62,996,544
Ensembl chr17:58,220,071...58,304,822
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G |
Muc20 |
mucin 20, cell surface associated |
disease_progression |
ISO |
DNA:repeat |
RGD |
PMID:16508246 |
RGD:7364789 |
NCBI chr11:81,492,844...81,506,571
Ensembl chr11:67,987,800...68,001,495
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G |
Ngf |
nerve growth factor |
|
ISO |
DNA:SNP: :rs11102930 (human) |
RGD |
PMID:21178826 |
RGD:7242801 |
NCBI chr 2:192,589,580...192,642,971
Ensembl chr 2:189,901,058...189,954,452
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G |
Notch2 |
notch receptor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:32715474 |
|
NCBI chr 2:188,299,336...188,432,823
Ensembl chr 2:185,610,589...185,744,088
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G |
Otub1 |
OTU deubiquitinase, ubiquitin aldehyde binding 1 |
|
ISO |
protein:increased expression:kidney |
RGD |
PMID:22279542 |
RGD:7175260 |
NCBI chr 1:213,816,400...213,824,679
Ensembl chr 1:204,387,215...204,395,483
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G |
Pde5a |
phosphodiesterase 5A |
|
ISO |
DNA:SNP: :rs13124532(human) |
RGD |
PMID:20563733 |
RGD:7248685 |
NCBI chr 2:213,542,822...213,687,638
Ensembl chr 2:210,858,063...210,999,701
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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 chr13:44,851,001...44,879,143
Ensembl chr13:42,298,914...42,326,875
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G |
Pla2g7 |
phospholipase A2 group VII |
disease_progression |
ISO |
DNA:polymorphism:exon: |
RGD |
PMID:12220450 |
RGD:7257515 |
NCBI chr 9:24,859,491...24,901,747
Ensembl chr 9:17,362,225...17,404,476
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G |
Plau |
plasminogen activator, urokinase |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:9002298 |
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NCBI chr15:3,505,485...3,511,987
Ensembl chr15:3,456,232...3,462,775
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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 1:143,659,312...143,681,019
Ensembl chr 1:134,250,081...134,271,765
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G |
RT1-Bb |
RT1 class II, locus Bb |
disease_progression |
ISO |
CTD Direct Evidence: marker/mechanism DNA:polymorphism: :HLA-DQB1*0301(human) |
CTD RGD |
PMID:25305756 PMID:7638860 |
RGD:36174018 |
NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,596,559...4,607,597
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G |
Scgb1a1 |
secretoglobin family 1A member 1 |
disease_progression |
ISO ISS |
OMIM:161950 | OMIM:616818 |
MouseDO RGD |
PMID:11967037 |
RGD:6903255 |
NCBI chr 1:215,406,138...215,409,686
Ensembl chr 1:205,977,060...205,980,610
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G |
Sele |
selectin E |
|
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 chr13:78,935,997...78,945,905
Ensembl chr13:76,403,304...76,412,741
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G |
Sell |
selectin L |
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ISO |
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RGD |
PMID:17452405 PMID:11828340 |
RGD:7175290, RGD:1625253 |
NCBI chr13:78,950,100...78,969,604
Ensembl chr13:76,416,915...76,436,456
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G |
Serpinb7 |
serpin family B member 7 |
disease_progression |
ISO |
DNA:SNPs:3' utr:2093C>T, 2180C>T (human) DNA:SNP: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 chr13:23,884,466...23,956,834
Ensembl chr13:23,395,671...23,442,205
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G |
Shh |
sonic hedgehog signaling molecule |
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ISO |
|
RGD |
PMID:24744439 |
RGD:12859042 |
NCBI chr 4:7,687,872...7,697,025
Ensembl chr 4:6,954,017...6,963,170
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G |
Slc43a3 |
solute carrier family 43, member 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25133636 |
|
NCBI chr 3:90,414,822...90,450,654
Ensembl chr 3:70,009,313...70,029,749
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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 chr15:89,106,809...89,111,926
Ensembl chr15:82,692,143...82,698,009
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G |
St6galnac2 |
ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17480010 |
|
NCBI chr10:102,409,048...102,427,299
Ensembl chr10:101,909,971...101,915,008 Ensembl chr10:101,909,971...101,915,008
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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 9:56,964,617...57,080,523
Ensembl chr 9:49,419,340...49,588,540
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G |
Tgfb1 |
transforming growth factor, beta 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11728950 |
|
NCBI chr 1:90,324,312...90,340,627
Ensembl chr 1:81,196,532...81,212,847
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G |
Timp1 |
TIMP metallopeptidase inhibitor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25133636 |
|
NCBI chr X:3,766,509...3,772,578
Ensembl chr X:1,212,972...1,217,664
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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 chr14:43,737,761...43,750,389
Ensembl chr14:43,384,932...43,397,125
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G |
Tlr9 |
toll-like receptor 9 |
severity treatment |
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 8:115,743,407...115,747,523
Ensembl chr 8:106,864,680...106,868,796
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G |
Tnf |
tumor necrosis factor |
treatment |
ISO |
|
RGD |
PMID:9844059 |
RGD:6909132 |
NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629
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G |
Tnfrsf1a |
TNF receptor superfamily member 1A |
treatment |
ISO |
protein:increased expression:serum |
RGD |
PMID:16209246 PMID:9844059 |
RGD:6907414, RGD:6909132 |
NCBI chr 4:159,837,119...159,849,817
Ensembl chr 4:158,150,820...158,163,591
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G |
Tnfrsf1b |
TNF receptor superfamily member 1B |
treatment |
ISO |
protein:increased expression:serum |
RGD |
PMID:16209246 PMID:9844059 |
RGD:6907414, RGD:6909132 |
NCBI chr 5:162,356,250...162,387,411
Ensembl chr 5:157,070,642...157,104,206
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G |
Tnfsf13 |
TNF superfamily member 13 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22197929 |
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NCBI chr10:54,898,805...54,901,815
Ensembl chr10:54,400,065...54,403,042
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G |
Tnfsf13b |
TNF superfamily member 13b |
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ISS |
OMIM:161950 |
MouseDO |
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NCBI chr16:86,164,377...86,195,072
Ensembl chr16:79,462,402...79,492,693
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G |
Tnfsf14 |
TNF superfamily member 14 |
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ISS |
OMIM:161950 |
MouseDO |
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NCBI chr 9:2,155,270...2,160,100
Ensembl chr 9:2,069,104...2,073,216
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G |
Vav3 |
vav guanine nucleotide exchange factor 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25305756 |
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NCBI chr 2:199,699,861...200,042,344
Ensembl chr 2:197,011,831...197,354,321
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G |
Vsig4 |
V-set and immunoglobulin domain containing 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25133636 |
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NCBI chr X:65,154,422...65,179,708
Ensembl chr X:61,144,928...61,170,212
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G |
Was |
WASP actin nucleation promoting factor |
|
ISS |
OMIM:161950 | OMIM:616818 |
MouseDO |
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NCBI chr X:17,077,057...17,085,802
Ensembl chr X:14,405,124...14,413,849
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G |
Mir146a |
microRNA 146a |
|
ISO |
|
RGD |
PMID:31666653 |
RGD:126925182 |
NCBI chr10:28,349,996...28,350,090
Ensembl chr10:27,848,516...27,848,610
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G |
Alb |
albumin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10916085 PMID:12217854 PMID:18176075 PMID:23994741 |
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NCBI chr14:17,891,564...17,907,043
Ensembl chr14:17,607,381...17,622,836
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G |
Ccl1 |
C-C motif chemokine ligand 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10385480 |
|
NCBI chr10:67,625,962...67,628,740
Ensembl chr10:67,128,331...67,131,159
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G |
Ccl11 |
C-C motif chemokine ligand 11 |
|
ISO |
|
RGD |
PMID:21952467 |
RGD:7247743 |
NCBI chr10:67,525,975...67,530,576
Ensembl chr10:67,028,328...67,032,926
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G |
Ccl2 |
C-C motif chemokine ligand 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10385480 |
|
NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,005,424...67,007,226
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G |
Ccl7 |
C-C motif chemokine ligand 7 |
|
IEP ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:10385480 PMID:10385480 |
RGD:6483768 |
NCBI chr10:67,514,095...67,515,945
Ensembl chr10:67,016,446...67,018,303
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G |
Crp |
C-reactive protein |
onset |
ISO |
associated with ureteral obstruction CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:17014549 PMID:21383672 PMID:21383672 |
RGD:6907431, RGD:6907431 |
NCBI chr13:87,694,062...87,695,978
Ensembl chr13:85,124,977...85,175,178
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G |
Cyp2d4 |
cytochrome P450, family 2, subfamily d, polypeptide 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19814645 |
|
NCBI chr 7:115,762,662...115,771,832
Ensembl chr 7:113,881,618...113,891,759
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G |
Dcn |
decorin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16005714 |
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NCBI chr 7:34,167,973...34,208,004
Ensembl chr 7:32,281,252...32,321,270
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G |
Ngf |
nerve growth factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16889433 |
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NCBI chr 2:192,589,580...192,642,971
Ensembl chr 2:189,901,058...189,954,452
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G |
Rnls |
renalase, FAD-dependent amine oxidase |
|
IEP |
|
RGD |
PMID:24022426 |
RGD:7327155 |
NCBI chr 1:240,450,702...240,723,472
Ensembl chr 1:231,037,486...231,309,823
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G |
Thbs1 |
thrombospondin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16005714 |
|
NCBI chr 3:125,510,250...125,525,402
Ensembl chr 3:105,056,292...105,071,440
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G |
Xdh |
xanthine dehydrogenase |
|
IMP |
|
RGD |
PMID:15933230 |
RGD:13209024 |
NCBI chr 6:27,282,319...27,344,022
Ensembl chr 6:21,530,113...21,592,268
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G |
Fan1 |
FANCD2 and FANCI associated nuclease 1 |
|
ISO ISS |
ClinVar Annotator: match by term: FAN1-related condition | ClinVar Annotator: match by term: Karyomegalic interstitial nephritis OMIM:614817 |
OMIM ClinVar MouseDO |
PMID:7847351 PMID:8546134 PMID:16678356 PMID:17304531 PMID:20621605 PMID:20670886 PMID:22772369 PMID:25741868 PMID:27196444 PMID:28492532 PMID:29590070 PMID:30773290 PMID:32111193 PMID:32220227 PMID:34386670 More...
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NCBI chr 1:127,327,098...127,356,807
Ensembl chr 1:117,917,099...117,944,977
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Mtmr10 |
myotubularin related protein 10 |
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ISO |
ClinVar Annotator: match by term: FAN1-related condition | ClinVar Annotator: match by term: Karyomegalic interstitial nephritis |
ClinVar |
PMID:7847351 PMID:16678356 PMID:17304531 PMID:20621605 PMID:20670886 PMID:22772369 PMID:25741868 PMID:27196444 PMID:28492532 PMID:30773290 PMID:32111193 PMID:32220227 PMID:34386670 More...
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NCBI chr 1:127,271,139...127,322,621
Ensembl chr 1:117,859,267...117,910,849
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Cdkn1a |
cyclin-dependent kinase inhibitor 1A |
treatment |
IEP |
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RGD |
PMID:24119646 |
RGD:10043363 |
NCBI chr20:7,150,820...7,161,373
Ensembl chr20:7,149,217...7,159,585
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Il13 |
interleukin 13 |
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IMP |
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RGD |
PMID:17429054 |
RGD:2290347 |
NCBI chr10:38,290,926...38,293,483
Ensembl chr10:37,790,130...37,792,737
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Il17a |
interleukin 17A |
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IEP |
Protein:increased expression:plasma (rat) |
RGD |
PMID:22772331 |
RGD:9068937 |
NCBI chr 9:30,640,844...30,644,331
Ensembl chr 9:23,144,402...23,147,889
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Lgals1 |
galectin 1 |
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IEP |
protein:decreased expression:glomerulus, podocytes (rat) |
RGD |
PMID:19079321 |
RGD:2316526 |
NCBI chr 7:112,365,695...112,368,801
Ensembl chr 7:110,481,392...110,488,345
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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 3:37,257,025...37,338,675
Ensembl chr 3:16,862,195...16,940,899
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Nr3c1 |
nuclear receptor subfamily 3, group C, member 1 |
disease_progression |
ISO |
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RGD |
PMID:17890747 |
RGD:7174718 |
NCBI chr18:31,522,783...31,644,508
Ensembl chr18:31,271,681...31,393,375
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Stat6 |
signal transducer and activator of transcription 6 |
severity no_association |
ISO |
DNA:polymorphism:3' utr:g.2964G>A (human) DNA:polymorphism:3' utr:2964G>A (human) DNA:repeat:exon, 5' utr:g.-3041(GT)15-16 (human) |
RGD |
PMID:12900808 PMID:15687724 PMID:19011907 |
RGD:7244138, RGD:7244146, RGD:7244144 |
NCBI chr 7:65,365,505...65,382,825
Ensembl chr 7:63,479,642...63,498,495
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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 chr20:4,152,758...4,155,956
Ensembl chr20:4,147,890...4,151,078
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Apoc3 |
apolipoprotein C3 |
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ISO |
protein:increased expression:serum |
RGD |
PMID:17957542 |
RGD:7207211 |
NCBI chr 8:55,428,172...55,430,352
Ensembl chr 8:46,531,478...46,533,583
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C3 |
complement C3 |
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ISO |
protein:decreased expression:serum CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:31182691 PMID:21888025 |
RGD:7175544 |
NCBI chr 9:2,174,412...2,201,339
Ensembl chr 9:2,087,437...2,114,429
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Ccl2 |
C-C motif chemokine ligand 2 |
severity susceptibility |
ISO |
protein:increased expression:urine (human) DNA:snp:promoter:g.-2518A>G (human) |
RGD |
PMID:8558841 PMID:15188361 |
RGD:8549732, RGD:11528534 |
NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,005,424...67,007,226
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Ccl3 |
C-C motif chemokine ligand 3 |
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ISO |
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RGD |
PMID:18187931 |
RGD:7241814 |
NCBI chr10:68,948,889...68,950,439
Ensembl chr10:68,451,388...68,452,938
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Ccr1 |
C-C motif chemokine receptor 1 |
disease_progression |
ISO |
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RGD |
PMID:15153561 |
RGD:5688164 |
NCBI chr 8:132,433,711...132,439,266
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Cd40 |
CD40 molecule |
treatment |
ISO |
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RGD |
PMID:23799000 PMID:18566369 PMID:19265127 |
RGD:7248418, RGD:7248429, RGD:7248425 |
NCBI chr 3:174,209,113...174,224,592
Ensembl chr 3:153,790,449...153,805,534
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Cd40lg |
CD40 ligand |
treatment |
ISO |
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:140,164,341...140,176,057
Ensembl chr X:135,126,969...135,138,306
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Cfb |
complement factor B |
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ISO |
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RGD |
PMID:10623824 PMID:3183062 PMID:21893562 |
RGD:7242736, | |