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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Term: | urinary system cancer |
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Accession: | DOID:3996
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browse the term
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Definition: | An organ system cancer that is located_in the kidneys, ureteres, bladder or urethra. (DO) |
Synonyms: | exact_synonym: | Cancer of Urinary Tract; Urinary Tract Cancer; Urological Cancer; cancer of the urinary tract; urinary tract cancers; urologic cancer; urologic cancers; urological cancers; urothelial cancer |
| xref: | EFO:1000363; ICD10CM:C68.9; ICD9CM:189.9 |
For additional species annotation, visit the
Alliance of Genome Resources.
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Nqo1 |
NAD(P)H quinone dehydrogenase 1 |
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ISO |
Urothelial neoplasms |
RGD |
PMID:17619904 |
RGD:2301044 |
NCBI chr19:35,295,633...35,310,528
Ensembl chr19:35,295,573...35,310,557
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Wnt2 |
Wnt family member 2 |
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ISO |
DNA:amplification |
RGD |
PMID:8064891 |
RGD:2291877 |
NCBI chr 4:46,328,408...46,374,673
Ensembl chr 4:46,333,998...46,374,402
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Atrx |
ATRX, chromatin remodeler |
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ISO |
ClinVar Annotator: match by term: Atypical teratoid/rhabdoid tumor |
ClinVar |
PMID:7697714 PMID:8968741 PMID:18414213 PMID:22995991 PMID:24082139 PMID:24728327 PMID:25741868 PMID:26467025 PMID:28293299 PMID:28492530 PMID:28492532 PMID:29304373 PMID:29602769 PMID:29910053 More...
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NCBI chr X:70,850,981...70,997,330
Ensembl chr X:70,850,981...70,997,330
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Derl3 |
derlin 3 |
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ISO |
ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr20:12,754,490...12,768,454
Ensembl chr20:12,763,543...12,767,027
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Gpc3 |
glypican 3 |
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ISO |
protein:increased expression:brain (human) |
RGD |
PMID:23530909 |
RGD:243065128 |
NCBI chr X:131,868,986...132,236,824
Ensembl chr X:131,868,990...132,236,798
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Smarcb1 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 |
susceptibility |
ISO ISS |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Familial Posterior Fossa Brain Tumor of Infancy | ClinVar Annotator: match by term: Malignant rhabdoid tumor, somatic | ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome | ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 1 | ClinVar Annotator: match by term: Teratoid tumor, atypical OMIM:609322 |
CTD OMIM ClinVar MouseDO |
PMID:9536098 PMID:9671307 PMID:9892189 PMID:10521299 PMID:10739763 PMID:12226744 PMID:17576681 PMID:18414213 PMID:19124645 PMID:21108436 PMID:21208904 PMID:24123847 PMID:24728327 PMID:25741868 PMID:27380723 PMID:28492532 PMID:28873162 PMID:29617669 PMID:34308366 More...
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NCBI chr20:12,741,164...12,763,616
Ensembl chr20:12,741,477...12,763,620
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Smarce1 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 |
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ISO |
ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 1 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr10:84,159,270...84,180,547
Ensembl chr10:84,159,275...84,179,989
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Tp53 |
tumor protein p53 |
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ISO |
ClinVar Annotator: match by term: Atypical teratoid/rhabdoid tumor |
ClinVar |
PMID:1565143 PMID:1591732 PMID:2046748 PMID:4122735 PMID:7565304 PMID:7783166 PMID:8550239 PMID:8718514 PMID:9218725 PMID:9242456 PMID:9364015 PMID:9667734 PMID:10519380 PMID:10922393 PMID:11370630 PMID:11782540 PMID:12826609 PMID:12885464 PMID:12917626 PMID:15722483 PMID:15781620 PMID:15925506 PMID:15951970 PMID:16401470 PMID:16494995 PMID:16551709 PMID:16818505 PMID:17015838 PMID:17311302 PMID:17606709 PMID:18511570 PMID:20128691 PMID:20407015 PMID:20522432 PMID:21343334 PMID:21519010 PMID:21761402 PMID:22186996 PMID:22915647 PMID:23246812 PMID:23538418 PMID:24033266 PMID:24122735 PMID:24835218 PMID:25157968 PMID:25741868 PMID:25952993 PMID:26205489 PMID:26225655 PMID:26230955 PMID:26585234 PMID:26619011 PMID:26786923 PMID:27276561 PMID:27463065 PMID:27621308 PMID:27680515 PMID:27895058 PMID:27959731 PMID:28492532 PMID:29979965 PMID:30224644 PMID:30327374 PMID:30816478 PMID:32000721 PMID:32156018 PMID:32817165 PMID:32888145 PMID:33163847 PMID:33245408 PMID:33840814 PMID:34529667 PMID:34709361 PMID:35974385 PMID:36988593 More...
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NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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Fgfr3 |
fibroblast growth factor receptor 3 |
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ISO |
ClinVar Annotator: match by term: Urinary bladder carcinoma |
ClinVar |
PMID:7773297 PMID:8589699 PMID:8845844 PMID:9438390 PMID:9790257 PMID:9843049 PMID:10471491 PMID:11038465 PMID:11055896 PMID:11314002 PMID:11429702 PMID:11879084 PMID:12009017 PMID:15772091 PMID:15880580 PMID:16841094 PMID:16912704 PMID:17384684 PMID:18000903 PMID:19088846 PMID:19331127 PMID:19381019 PMID:19749790 PMID:20301540 PMID:20453470 PMID:20542753 PMID:21273588 PMID:21510009 PMID:22869148 PMID:23200862 PMID:24419316 PMID:24476948 PMID:24863959 PMID:25157968 PMID:25606676 PMID:25614871 PMID:25741868 PMID:26619011 PMID:28249712 PMID:28492532 PMID:29593476 PMID:30692697 PMID:31299979 More...
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NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
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Hras |
HRas proto-oncogene, GTPase |
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ISO |
ClinVar Annotator: match by term: Urinary bladder carcinoma |
ClinVar |
PMID:16170316 PMID:16372351 PMID:16443854 PMID:16835863 PMID:17601930 PMID:18039947 PMID:18042262 PMID:19382114 PMID:21850009 PMID:22420426 PMID:22499344 PMID:22683711 PMID:22926243 PMID:23429430 PMID:24033266 PMID:25157968 PMID:25741868 PMID:26619011 PMID:28027064 PMID:28492532 PMID:31394527 More...
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NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615
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Lrrc56 |
leucine rich repeat containing 56 |
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ISO |
ClinVar Annotator: match by term: Urinary bladder carcinoma |
ClinVar |
PMID:16170316 PMID:16372351 PMID:16443854 PMID:16835863 PMID:17601930 PMID:18039947 PMID:18042262 PMID:19382114 PMID:21850009 PMID:22420426 PMID:22499344 PMID:22683711 PMID:22926243 PMID:23429430 PMID:24033266 PMID:25157968 PMID:25741868 PMID:26619011 PMID:28027064 PMID:28492532 PMID:31394527 More...
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NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172
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Pmf1 |
polyamine-modulated factor 1 |
disease_progression |
ISO |
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RGD |
PMID:22682992 |
RGD:30296649 |
NCBI chr 2:173,848,074...173,868,272
Ensembl chr 2:173,848,074...173,868,270
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Pten |
phosphatase and tensin homolog |
disease_progression |
ISO |
associated with schistosomiasis;protein:decreased expression:urothelium (human) |
RGD |
PMID:26916953 |
RGD:127285612 |
NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
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Actl7a |
actin-like 7a |
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ISO |
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RGD |
PMID:29058301 |
RGD:13831338 |
NCBI chr 5:71,447,447...71,450,440
Ensembl chr 5:71,447,071...71,450,908
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Birc5 |
baculoviral IAP repeat-containing 5 |
disease_progression |
ISO |
mRNA:increased expression:urinary bladder (human) |
RGD |
PMID:31964418 |
RGD:153344516 |
NCBI chr10:103,072,530...103,081,382
Ensembl chr10:103,073,408...103,081,380
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Birc7 |
baculoviral IAP repeat-containing 7 |
disease_progression |
ISO |
mRNA:increased expression:urinary bladder (human) |
RGD |
PMID:31964418 |
RGD:153344516 |
NCBI chr 3:168,047,824...168,052,606
Ensembl chr 3:168,047,824...168,052,606
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Fgfr3 |
fibroblast growth factor receptor 3 |
severity |
ISO |
protein:increased expression:urothelial cells (human) |
RGD |
PMID:28507621 |
RGD:38500205 |
NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
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Kdm6a |
lysine demethylase 6A |
susceptibility |
ISO |
associated with upper tract urothelial carcinoma; DNA:mutations:multiple: (human) |
RGD |
PMID:30352907 |
RGD:150429735 |
NCBI chr X:4,337,466...4,477,100
Ensembl chr X:4,337,750...4,477,062
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Birc5 |
baculoviral IAP repeat-containing 5 |
exacerbates |
ISO |
mRNA:increased expression:kidney (human) |
RGD |
PMID:31964418 |
RGD:153344516 |
NCBI chr10:103,072,530...103,081,382
Ensembl chr10:103,073,408...103,081,380
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Hnf1a |
HNF1 homeobox A |
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ISO |
RNA:decreased expression:kidney (human) ClinVar Annotator: match by term: Chromophobe renal cell carcinoma |
ClinVar RGD |
PMID:9392505 PMID:9754819 PMID:10966642 PMID:11393552 PMID:15649945 PMID:17573900 PMID:19169489 PMID:19929997 PMID:21696527 PMID:22348187 PMID:22432108 PMID:24097065 PMID:25741868 PMID:26059258 PMID:26431509 PMID:26467025 PMID:27148439 PMID:28395978 PMID:28492532 PMID:31365591 PMID:31576961 PMID:31638168 PMID:15649945 More...
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RGD:150540316 |
NCBI chr12:41,638,536...41,672,806
Ensembl chr12:41,645,587...41,672,104
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Hnf1b |
HNF1 homeobox B |
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ISO |
ClinVar Annotator: match by term: Chromophobe renal cell carcinoma |
ClinVar |
PMID:15649945 PMID:16371430 PMID:25536396 PMID:25700310 PMID:25741868 |
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NCBI chr10:68,735,894...68,789,888
Ensembl chr10:68,735,894...68,789,888
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Ackr3 |
atypical chemokine receptor 3 |
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ISO |
mRNA:increased expression:kidney: |
RGD |
PMID:29218250 |
RGD:155804290 |
NCBI chr 9:90,799,682...90,811,246
Ensembl chr 9:90,799,686...90,811,237
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Ager |
advanced glycosylation end product-specific receptor |
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ISO |
mRNA:increased expression:renal cortex (human) |
RGD |
PMID:21947243 |
RGD:7244181 |
NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
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Atm |
ATM serine/threonine kinase |
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ISO |
ClinVar Annotator: match by term: Clear cell carcinoma of kidney |
ClinVar |
PMID:8755918 PMID:9792409 PMID:10980530 PMID:18560558 PMID:19431188 PMID:19691550 PMID:19779456 PMID:25186627 PMID:25741868 PMID:26628246 PMID:28492532 PMID:29522266 PMID:33747920 More...
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NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
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Atp5mc2 |
ATP synthase membrane subunit c locus 2 |
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ISO |
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RGD |
PMID:28672194 |
RGD:14696810 |
NCBI chr 7:133,791,341...133,799,713
Ensembl chr 7:133,791,342...133,799,733
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Atp5pb |
ATP synthase peripheral stalk-membrane subunit b |
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ISO |
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RGD |
PMID:28672194 |
RGD:14696810 |
NCBI chr 2:193,424,138...193,435,418
Ensembl chr 2:193,424,047...193,435,418
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Atp5po |
ATP synthase peripheral stalk subunit OSCP |
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ISO |
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RGD |
PMID:28672194 |
RGD:14696810 |
NCBI chr11:31,165,218...31,171,530
Ensembl chr11:31,165,217...31,171,592
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Bap1 |
BRCA1 associated deubiquitinase 1 |
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ISO |
ClinVar Annotator: match by term: Clear cell carcinoma of kidney |
ClinVar |
PMID:25741868 PMID:28492532 PMID:35483881 PMID:35992853 |
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NCBI chr16:6,446,709...6,455,535
Ensembl chr16:6,446,709...6,455,535
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Bax |
BCL2 associated X, apoptosis regulator |
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ISO |
mRNA, protein:increased expression:kidney |
RGD |
PMID:28551630 |
RGD:15036804 |
NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368
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Birc3 |
baculoviral IAP repeat-containing 3 |
disease_progression |
ISO |
mRNA:increased expression:kidney (human) |
RGD |
PMID:31964418 |
RGD:153344516 |
NCBI chr 8:5,000,844...5,028,470
Ensembl chr 8:5,000,845...5,015,802
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Birc5 |
baculoviral IAP repeat-containing 5 |
exacerbates |
ISO |
mRNA:increased expression:kidney (human) |
RGD |
PMID:31964418 |
RGD:153344516 |
NCBI chr10:103,072,530...103,081,382
Ensembl chr10:103,073,408...103,081,380
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Birc6 |
baculoviral IAP repeat-containing 6 |
ameliorates |
ISO |
mRNA:increased expression:kidney (human) |
RGD |
PMID:31964418 |
RGD:153344516 |
NCBI chr 6:20,722,922...20,916,396
Ensembl chr 6:20,722,922...20,916,434
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C8h11orf65 |
similar to human chromosome 11 open reading frame 65 |
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ISO |
ClinVar Annotator: match by term: Clear cell carcinoma of kidney |
ClinVar |
PMID:8755918 PMID:9792409 PMID:10980530 PMID:18560558 PMID:19431188 PMID:19691550 PMID:19779456 PMID:25186627 PMID:25741868 PMID:26628246 PMID:28492532 PMID:29522266 PMID:33747920 More...
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NCBI chr 8:53,796,033...53,825,277
Ensembl chr 8:53,796,366...53,824,748
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Chd4 |
chromodomain helicase DNA binding protein 4 |
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ISO |
mRNA:decreased expression:kidney (human) |
RGD |
PMID:28486105 |
RGD:153323299 |
NCBI chr 4:157,898,503...157,931,632
Ensembl chr 4:157,899,391...157,931,541
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Cxcl12 |
C-X-C motif chemokine ligand 12 |
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ISO |
mRNA:decreased expression:kidney: |
RGD |
PMID:29218250 |
RGD:155804290 |
NCBI chr 4:150,388,326...150,401,173
Ensembl chr 4:150,388,325...150,401,168
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Cxcr4 |
C-X-C motif chemokine receptor 4 |
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ISO |
mRNA:increased expression:kidney: |
RGD |
PMID:29218250 |
RGD:155804290 |
NCBI chr13:40,077,976...40,081,883
Ensembl chr13:40,077,976...40,081,883
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Ddr1 |
discoidin domain receptor tyrosine kinase 1 |
severity |
ISO |
mRNA, protein:decreased expression:kidney (human) mRNA:increased expression:kidney, lymph nodes (human) |
RGD |
PMID:31018949 PMID:27020590 |
RGD:151347528, RGD:151347863 |
NCBI chr20:3,042,494...3,064,442
Ensembl chr20:3,044,320...3,064,468
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Dnmt1 |
DNA methyltransferase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27292127 |
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NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659
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Dnmt3a |
DNA methyltransferase 3 alpha |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27292127 |
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NCBI chr 6:26,791,517...26,902,161
Ensembl chr 6:26,822,609...26,896,687
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Egln3 |
egl-9 family hypoxia-inducible factor 3 |
disease_progression |
ISO |
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RGD |
PMID:23788753 |
RGD:13506731 |
NCBI chr 6:71,650,297...71,675,766
Ensembl chr 6:71,650,297...71,675,766
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Eng |
endoglin |
severity |
ISO |
protein:increased expression:tumor, vasculature (human) protein:decreased expression:kidney, tumor (human) |
RGD |
PMID:22204709 PMID:16536758 |
RGD:7248775, RGD:7248780 |
NCBI chr 3:15,934,566...15,972,618
Ensembl chr 3:15,934,518...15,973,230
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Ep300 |
E1A binding protein p300 |
severity |
ISO |
mRNA:altered expression:kidney, tumor (human) mRNA, protein:increased expression:kidney |
RGD |
PMID:23029358 PMID:28551630 |
RGD:7296925, RGD:15036804 |
NCBI chr 7:113,108,476...113,178,529
Ensembl chr 7:113,106,247...113,136,088 Ensembl chr 7:113,106,247...113,136,088
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F2 |
coagulation factor II, thrombin |
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ISO |
protein:increased expression:brain |
RGD |
PMID:22065054 |
RGD:6893520 |
NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
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Flt4 |
Fms related receptor tyrosine kinase 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25239121 |
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NCBI chr10:33,913,725...33,954,770
Ensembl chr10:33,913,608...33,954,770
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Fto |
FTO, alpha-ketoglutarate dependent dioxygenase |
disease_progression treatment |
ISO |
mRNA:decreased expression:kidney mRNA:increased expression:kidney |
RGD |
PMID:30648791 PMID:32817424 PMID:32817424 |
RGD:329812005, RGD:329812006, RGD:329812006 |
NCBI chr19:15,284,898...15,692,142
Ensembl chr19:15,349,696...15,692,083
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Gata1 |
GATA binding protein 1 |
disease_progression |
ISO |
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RGD |
PMID:25230694 |
RGD:149735195 |
NCBI chr X:14,529,706...14,537,530
Ensembl chr X:14,529,702...14,537,530
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Gata2 |
GATA binding protein 2 |
disease_progression |
ISO |
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RGD |
PMID:25230694 |
RGD:149735195 |
NCBI chr 4:120,654,205...120,667,763
Ensembl chr 4:120,658,986...120,667,761
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Gstp1 |
glutathione S-transferase pi 1 |
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ISO |
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RGD |
PMID:10383153 |
RGD:6906878 |
NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
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Hnf1a |
HNF1 homeobox A |
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ISO |
ClinVar Annotator: match by term: Clear cell carcinoma of kidney |
ClinVar |
PMID:8866553 PMID:8945470 PMID:9032114 PMID:9045858 PMID:9075818 PMID:9166684 PMID:9313763 PMID:9392505 PMID:9439666 PMID:9754819 PMID:10333057 PMID:10447526 PMID:10754480 PMID:10966642 PMID:11058894 PMID:11315851 PMID:11393552 PMID:12050210 PMID:12355088 PMID:12530534 PMID:12574234 PMID:12618559 PMID:14747304 PMID:15649945 PMID:15928245 PMID:17054605 PMID:17407387 PMID:17440016 PMID:17573900 PMID:17937063 PMID:17989309 PMID:18003757 PMID:18672310 PMID:19169489 PMID:19929997 PMID:21051477 PMID:21628466 PMID:21696527 PMID:22348187 PMID:22432108 PMID:23348805 PMID:23551881 PMID:23607861 PMID:24097065 PMID:25174781 PMID:25555642 PMID:25741868 PMID:26059258 PMID:26431509 PMID:26467025 PMID:27148439 PMID:28395978 PMID:28492532 PMID:28862987 PMID:29417725 PMID:30814848 PMID:31365591 PMID:31576961 PMID:31638168 PMID:32741144 PMID:34373539 More...
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NCBI chr12:41,638,536...41,672,806
Ensembl chr12:41,645,587...41,672,104
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Igf1r |
insulin-like growth factor 1 receptor |
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ISO |
xenograph of human clear cell renal cancer cells in mouse |
RGD |
PMID:19509240 |
RGD:7242921 |
NCBI chr 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777
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Iscu |
iron-sulfur cluster assembly enzyme |
disease_progression |
ISO |
mRNA,protein:decreased expression:kidney (human) |
RGD |
PMID:23449350 |
RGD:155260320 |
NCBI chr12:42,852,305...42,858,150
Ensembl chr12:42,852,305...42,858,150
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Kat8 |
lysine acetyltransferase 8 |
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ISO |
mRNA, protein:decreased expression:kidney (human) |
RGD |
PMID:23394073 |
RGD:9586034 |
NCBI chr 1:182,524,355...182,536,638
Ensembl chr 1:182,515,327...182,536,633
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G |
Map3k8 |
mitogen-activated protein kinase kinase kinase 8 |
disease_progression ameliorates |
ISO |
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RGD |
PMID:23982215 PMID:23982215 |
RGD:151356974, RGD:151356974 |
NCBI chr17:53,382,908...53,403,216
Ensembl chr17:53,383,131...53,403,216
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G |
Mir210 |
microRNA 210 |
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ISO |
miRNA:increased expression:kidney (human) |
RGD |
PMID:23449350 |
RGD:155260320 |
NCBI chr 1:196,326,343...196,326,452
Ensembl chr 1:196,326,337...196,326,454
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G |
Mmp12 |
matrix metallopeptidase 12 |
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ISO |
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RGD |
PMID:11576837 |
RGD:2290421 |
NCBI chr 8:4,581,785...4,591,687
Ensembl chr 8:4,581,785...4,599,611
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G |
Mthfr |
methylenetetrahydrofolate reductase |
susceptibility severity |
ISO |
DNA:transition, transversion:cds:g.677C>T, g.1298A>C (human) |
RGD |
PMID:21489764 PMID:20039875 |
RGD:6893474, RGD:6893632 |
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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G |
Myc |
MYC proto-oncogene, bHLH transcription factor |
severity |
ISO |
protein:increased expression:kidney (human) |
RGD |
PMID:21881486 |
RGD:7207420 |
NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630
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G |
Ogg1 |
8-oxoguanine DNA glycosylase |
|
ISO |
ClinVar Annotator: match by term: Clear cell carcinoma of kidney |
ClinVar |
PMID:9681819 PMID:10987279 PMID:12172214 PMID:19537786 PMID:21195604 PMID:25741868 More...
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NCBI chr 4:146,474,701...146,481,959
Ensembl chr 4:146,474,750...146,484,766
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G |
Pak4 |
p21 (RAC1) activated kinase 4 |
disease_progression |
ISO |
|
RGD |
PMID:25744653 |
RGD:13504816 |
NCBI chr 1:83,849,904...83,889,188
Ensembl chr 1:83,849,904...83,859,413
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G |
Pak6 |
p21 (RAC1) activated kinase 6 |
disease_progression |
ISO |
|
RGD |
PMID:24715215 |
RGD:13506722 |
NCBI chr 3:105,638,248...105,674,399
Ensembl chr 3:105,638,653...105,672,975
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G |
Pbrm1 |
polybromo 1 |
|
ISO |
ClinVar Annotator: match by term: Clear cell carcinoma of kidney |
ClinVar |
PMID:25911086 |
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NCBI chr16:6,213,507...6,312,895
Ensembl chr16:6,213,300...6,311,780
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G |
Pdgfb |
platelet derived growth factor subunit B |
disease_progression |
ISO |
|
RGD |
PMID:25766258 PMID:23879920 |
RGD:13504817, RGD:13506650 |
NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984
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G |
Pml |
PML nuclear body scaffold |
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ISO |
protein:decreased expression:kidney (human) |
RGD |
PMID:25293974 |
RGD:41404694 |
NCBI chr 8:58,627,347...58,661,927
Ensembl chr 8:58,628,837...58,658,971
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G |
Ppbp |
pro-platelet basic protein |
disease_progression ameliorates |
ISO |
|
RGD |
PMID:24335961 PMID:24335961 |
RGD:401794956, RGD:401794956 |
NCBI chr14:17,302,326...17,303,130
Ensembl chr14:17,302,326...17,303,130
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G |
Setd2 |
SET domain containing 2, histone lysine methyltransferase |
severity |
ISO |
DNA:SNPs,loss of heterozygosity:multiple (human) DNA:mutations:multiple (human) |
RGD |
PMID:26864202 PMID:26891804 |
RGD:150429635, RGD:150429640 |
NCBI chr 8:110,511,808...110,597,475
Ensembl chr 8:110,511,772...110,597,489
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G |
Smarcb1 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 |
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ISO |
mRNA,protein:decreased expression:kidney: |
RGD |
PMID:29218250 |
RGD:155804290 |
NCBI chr20:12,741,164...12,763,616
Ensembl chr20:12,741,477...12,763,620
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G |
Srsf1 |
serine and arginine rich splicing factor 1 |
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ISO |
mRNA:altered expression:kidney (human) |
RGD |
PMID:21082031 |
RGD:11039407 |
NCBI chr10:72,838,926...72,859,066
Ensembl chr10:72,839,274...72,845,336
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G |
Srsf2 |
serine and arginine rich splicing factor 2 |
|
ISO |
mRNA:altered expression:kidney (human) |
RGD |
PMID:21082031 |
RGD:11039407 |
NCBI chr10:102,052,158...102,055,365
Ensembl chr10:102,052,314...102,055,338
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G |
Srsf4 |
serine and arginine rich splicing factor 4 |
|
ISO |
mRNA:altered expression:kidney (human) |
RGD |
PMID:21082031 |
RGD:11039407 |
NCBI chr 5:144,060,981...144,090,798
Ensembl chr 5:144,061,463...144,089,229
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G |
Srsf5 |
serine and arginine rich splicing factor 5 |
|
ISO |
mRNA:altered expression:kidney (human) |
RGD |
PMID:21082031 |
RGD:11039407 |
NCBI chr 6:100,605,165...100,610,192
Ensembl chr 6:100,605,456...100,610,177
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G |
Srsf6 |
serine and arginine rich splicing factor 6 |
|
ISO |
mRNA:altered expression:kidney (human) |
RGD |
PMID:21082031 |
RGD:11039407 |
NCBI chr 3:151,589,546...151,594,869
Ensembl chr 3:151,589,535...151,594,860
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G |
Srsf7 |
serine and arginine rich splicing factor 7 |
|
ISO |
mRNA:altered expression:kidney (human) |
RGD |
PMID:21082031 |
RGD:11039407 |
NCBI chr 6:14,811,775...14,818,968
Ensembl chr 6:14,811,808...14,818,965
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G |
Tp53 |
tumor protein p53 |
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ISO |
mRNA, protein:increased expression:kidney |
RGD |
PMID:28551630 |
RGD:15036804 |
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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G |
Vegfa |
vascular endothelial growth factor A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25239121 |
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NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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G |
Xiap |
X-linked inhibitor of apoptosis |
ameliorates |
ISO |
mRNA:increased expression:kidney (human) |
RGD |
PMID:31964418 |
RGD:153344516 |
NCBI chr X:120,890,537...120,938,413
Ensembl chr X:120,897,907...120,934,700
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G |
Ar |
androgen receptor |
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ISO |
protein:decreased expression:sertoli cell |
RGD |
PMID:16245160 |
RGD:1643343 |
NCBI chr X:63,104,771...63,273,934
Ensembl chr X:63,104,771...63,273,925
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G |
Dcdc1-ps1 |
doublecortin domain containing 1, pseudogene 1 |
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ISO |
ClinVar Annotator: match by term: Drash syndrome |
ClinVar |
PMID:15150775 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 PMID:28492532 More...
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NCBI chr 3:92,486,054...92,896,696
Ensembl chr 3:92,718,047...92,896,542
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G |
Dnajc24 |
DnaJ heat shock protein family (Hsp40) member C24 |
|
ISO |
ClinVar Annotator: match by term: Drash syndrome |
ClinVar |
PMID:15150775 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 PMID:28492532 More...
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NCBI chr 3:92,450,631...92,486,004
Ensembl chr 3:92,450,639...92,485,901
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G |
Elp4 |
elongator acetyltransferase complex subunit 4 |
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ISO |
ClinVar Annotator: match by term: Drash syndrome |
ClinVar |
PMID:15150775 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 PMID:28492532 More...
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NCBI chr 3:92,162,271...92,385,251
Ensembl chr 3:92,162,280...92,385,243
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G |
Immp1l |
inner mitochondrial membrane peptidase subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Drash syndrome |
ClinVar |
PMID:15150775 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 PMID:28492532 More...
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NCBI chr 3:92,385,329...92,449,559
Ensembl chr 3:92,385,379...92,452,313
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G |
Pax6 |
paired box 6 |
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ISO |
ClinVar Annotator: match by term: Drash syndrome |
ClinVar |
PMID:15150775 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 PMID:28492532 More...
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NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014
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G |
Rcn1 |
reticulocalbin 1 |
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ISO |
ClinVar Annotator: match by term: Drash syndrome |
ClinVar |
PMID:15150775 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 PMID:28492532 More...
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NCBI chr 3:91,841,052...91,855,295
Ensembl chr 3:91,841,052...91,855,295
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G |
Wt1 |
WT1 transcription factor |
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ISO ISS |
ClinVar Annotator: match by term: Drash syndrome | ClinVar Annotator: match by term: Pseudohermaphroditism, nephron disorder and Wilms' tumor OMIM:194080 CTD Direct Evidence: marker/mechanism |
ClinVar MouseDO CTD OMIM RGD |
PMID:1302008 PMID:1327525 PMID:1338906 PMID:1655284 PMID:1658787 PMID:1671709 PMID:5665984 PMID:6307071 PMID:7795587 PMID:8295405 PMID:8388765 PMID:8411073 PMID:8621495 PMID:8810912 PMID:8956030 PMID:8975729 PMID:9090524 PMID:9108089 PMID:9398852 PMID:9475094 PMID:9499425 PMID:9529364 PMID:9531607 PMID:9536098 PMID:9607189 PMID:9745866 PMID:9817285 PMID:10094551 PMID:10224085 PMID:10470095 PMID:10505699 PMID:10505700 PMID:10561752 PMID:10571943 PMID:10603123 PMID:10670748 PMID:10762296 PMID:10792605 PMID:11007843 PMID:11182928 PMID:11241055 PMID:11278460 PMID:11322369 PMID:11738793 PMID:12024052 PMID:12050205 PMID:12471221 PMID:12640141 PMID:12855602 PMID:12882970 PMID:12970737 PMID:15150775 PMID:15266301 PMID:15349765 PMID:15483024 PMID:15509792 PMID:15957141 PMID:16199547 PMID:16439601 PMID:16717397 PMID:16932893 PMID:16987884 PMID:17496156 PMID:17541636 PMID:17551084 PMID:17576681 PMID:17630404 PMID:17694336 PMID:17853480 PMID:18203154 PMID:18385267 PMID:18516627 PMID:18559874 PMID:18591546 PMID:18618575 PMID:19048299 PMID:19171881 PMID:19205749 PMID:19221039 PMID:19484379 PMID:19494353 PMID:19536888 PMID:20106868 PMID:20368469 PMID:20413658 PMID:20435628 PMID:20442690 PMID:20562648 PMID:20595692 PMID:21125408 PMID:21384108 PMID:21499692 PMID:21504297 PMID:21508141 PMID:21851196 PMID:22099579 PMID:22172722 PMID:22465478 PMID:22703879 PMID:22815844 PMID:22876585 PMID:22908070 PMID:23117548 PMID:23295293 PMID:23302619 PMID:23497137 PMID:23515051 PMID:23715653 PMID:23935527 PMID:24033266 PMID:24138039 PMID:24161391 PMID:24379226 PMID:24402088 PMID:24728327 PMID:24856380 PMID:25110071 PMID:25145932 PMID:25349199 PMID:25383892 PMID:25451826 PMID:25461826 PMID:25501161 PMID:25623218 PMID:25688735 PMID:25720465 PMID:25741868 PMID:25813279 PMID:25818337 PMID:25932436 PMID:26069768 PMID:26248470 PMID:26358501 PMID:26467025 PMID:26661695 PMID:26725263 PMID:26882358 PMID:27013732 PMID:27124303 PMID:27241786 PMID:27300205 PMID:27719739 PMID:27899157 PMID:28204945 PMID:28334862 PMID:28492532 PMID:28658201 PMID:28780565 PMID:28811308 PMID:29474669 PMID:29668062 PMID:30221469 PMID:30406062 PMID:30655312 PMID:30668521 PMID:30721404 PMID:30963316 PMID:31738409 PMID:31937884 PMID:31970404 PMID:32352694 PMID:32493750 PMID:32581362 PMID:32604935 PMID:32719394 PMID:32891756 PMID:33226606 PMID:34031707 PMID:34386660 PMID:34392242 PMID:34490048 PMID:34622098 PMID:35211794 PMID:35535697 PMID:35904974 PMID:36349777 PMID:36980135 PMID:38054408 PMID:12161615 More...
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RGD:1580624 |
NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643
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G |
Dicer1 |
dicer 1 ribonuclease III |
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ISO |
ClinVar Annotator: match by term: GLOW SYNDROME | ClinVar Annotator: match by term: GLOW Syndrome |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19556464 PMID:21205968 PMID:21266384 PMID:21882293 PMID:23620094 PMID:23728841 PMID:24481001 PMID:24513630 PMID:24617712 PMID:24675358 PMID:24676357 PMID:24728327 PMID:24839956 PMID:24909177 PMID:25022261 PMID:25190313 PMID:25356068 PMID:25451712 PMID:25525159 PMID:25670082 PMID:25741868 PMID:25836323 PMID:26033159 PMID:26461232 PMID:26467025 PMID:26475046 PMID:26555935 PMID:26556299 PMID:26577641 PMID:26580448 PMID:26822237 PMID:26841698 PMID:26886166 PMID:26893459 PMID:26925222 PMID:26928971 PMID:27126690 PMID:27459524 PMID:27819237 PMID:27930734 PMID:28012864 PMID:28097783 PMID:28177962 PMID:28222777 PMID:28323992 PMID:28492532 PMID:28524158 PMID:28562508 PMID:28624956 PMID:28654427 PMID:28748527 PMID:28825729 PMID:28862265 PMID:28960912 PMID:29315962 PMID:29399970 PMID:29881993 PMID:29883781 PMID:29945567 PMID:30014022 PMID:30178239 PMID:30266945 PMID:30649606 PMID:30672147 PMID:31820118 PMID:31838154 PMID:31900434 PMID:31911633 PMID:32714280 PMID:32832834 PMID:33630087 PMID:33729574 PMID:33782093 PMID:34291157 More...
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NCBI chr 6:123,627,529...123,692,278
Ensembl chr 6:123,631,250...123,693,965
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G |
Dnase1 |
deoxyribonuclease 1 |
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ISO |
ClinVar Annotator: match by term: Hereditary renal cell carcinoma |
ClinVar |
PMID:28492532 |
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NCBI chr10:11,498,930...11,505,151
Ensembl chr10:11,498,931...11,501,869
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G |
Egf |
epidermal growth factor |
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ISO |
ClinVar Annotator: match by term: Hereditary renal cell carcinoma |
ClinVar |
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NCBI chr 2:218,219,408...218,302,359
Ensembl chr 2:218,219,415...218,302,064
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G |
Parp1 |
poly (ADP-ribose) polymerase 1 |
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ISO |
ClinVar Annotator: match by term: Hereditary renal cell carcinoma |
ClinVar |
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NCBI chr13:92,307,593...92,339,406
Ensembl chr13:92,307,586...92,339,404
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G |
Sdha |
succinate dehydrogenase complex flavoprotein subunit A |
|
ISO |
ClinVar Annotator: match by term: Hereditary renal cell carcinoma |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 PMID:28546994 PMID:30680959 PMID:31527833 More...
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NCBI chr 1:28,935,965...28,960,936
Ensembl chr 1:28,940,164...28,961,535
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G |
Trap1 |
TNF receptor-associated protein 1 |
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ISO |
ClinVar Annotator: match by term: Hereditary renal cell carcinoma |
ClinVar |
PMID:28492532 |
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NCBI chr10:11,464,882...11,498,931
Ensembl chr10:11,464,821...11,498,981
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G |
Ctr9 |
CTR9 homolog, Paf1/RNA polymerase II complex component |
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ISO |
ClinVar Annotator: match by term: Predisposition to Wilms tumor, CTR9-related |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 1:165,137,277...165,167,303
Ensembl chr 1:165,137,215...165,167,303
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G |
Fgf9 |
fibroblast growth factor 9 |
ameliorates |
ISO |
human gene in mouse model |
RGD |
PMID:26183774 |
RGD:152600905 |
NCBI chr15:32,208,993...32,254,952
Ensembl chr15:32,210,074...32,253,309
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G |
Ppargc1a |
PPARG coactivator 1 alpha |
|
ISO |
associated with Birt-Hogg-Dube Syndrome; mRNA:increased expression:kidney (human) |
RGD |
PMID:23150719 |
RGD:7242016 |
NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656
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G |
Abcb1a |
ATP binding cassette subfamily B member 1A |
disease_progression |
ISO |
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RGD |
PMID:11888090 |
RGD:2315560 |
NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709
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G |
Amer1 |
APC membrane recruitment protein 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28825729 |
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NCBI chr X:60,300,595...60,316,480
Ensembl chr X:60,295,751...60,316,440
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G |
Apoc3 |
apolipoprotein C3 |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:22160518 |
RGD:7207220 |
NCBI chr 8:46,531,478...46,533,658
Ensembl chr 8:46,531,478...46,533,583
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G |
Arid1a |
AT-rich interaction domain 1A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28825729 |
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NCBI chr 5:145,908,173...145,981,552
Ensembl chr 5:145,908,181...145,985,564
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G |
Asxl1 |
ASXL transcriptional regulator 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28825729 |
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NCBI chr 3:141,814,012...141,881,526
Ensembl chr 3:141,813,433...141,881,538
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G |
Bcl2l1 |
Bcl2-like 1 |
disease_progression |
ISO |
|
RGD |
PMID:15717629 |
RGD:1643482 |
NCBI chr 3:141,253,508...141,304,582
Ensembl chr 3:141,253,523...141,303,479
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G |
Bcor |
BCL6 co-repressor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28825729 |
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NCBI chr X:10,609,756...10,729,613
Ensembl chr X:10,687,732...10,729,613
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G |
Bcorl1 |
BCL6 co-repressor-like 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28825729 |
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NCBI chr X:127,516,504...127,584,529
Ensembl chr X:127,537,538...127,584,087
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G |
Bmp7 |
bone morphogenetic protein 7 |
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IEP |
mRNA:decreased expression:kidney |
RGD |
PMID:9808158 |
RGD:2289034 |
NCBI chr 3:161,639,915...161,716,938
Ensembl chr 3:161,516,462...161,716,788
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G |
Braf |
B-Raf proto-oncogene, serine/threonine kinase |
|
ISO |
ClinVar Annotator: match by term: Wilms tumor |
ClinVar |
PMID:12068308 PMID:12198537 PMID:12447372 PMID:12460918 PMID:12460919 PMID:12619120 PMID:12644542 PMID:12670889 PMID:12794760 PMID:12960123 PMID:14513361 PMID:14602780 PMID:14679157 PMID:15001635 PMID:15035987 PMID:15126572 PMID:15181070 PMID:15342696 PMID:15356022 PMID:15386408 PMID:15687339 PMID:15998781 PMID:16015629 PMID:16174717 PMID:16187918 PMID:16772349 PMID:17374713 PMID:17488796 PMID:17785355 PMID:18398503 PMID:19001320 PMID:19010912 PMID:19018267 PMID:19238210 PMID:19404918 PMID:19537845 PMID:19561230 PMID:19571295 PMID:20350999 PMID:20413299 PMID:20619739 PMID:20630094 PMID:20818844 PMID:20823850 PMID:20857202 PMID:21107320 PMID:21107323 PMID:21129611 PMID:21156289 PMID:21163703 PMID:21426297 PMID:21483012 PMID:21639808 PMID:21683865 PMID:21975775 PMID:22038996 PMID:22039425 PMID:22048237 PMID:22113612 PMID:22180495 PMID:22281684 PMID:22351686 PMID:22356324 PMID:22389471 PMID:22448344 PMID:22536370 PMID:22586120 PMID:22608338 PMID:22649091 PMID:22663011 PMID:22735384 PMID:22743296 PMID:22773810 PMID:22805292 PMID:22972589 PMID:22997239 PMID:23020132 PMID:23031422 PMID:23251002 PMID:23302800 PMID:23325582 PMID:23470635 PMID:23524406 PMID:23549875 PMID:23614898 PMID:23685455 PMID:23812671 PMID:23833300 PMID:23845441 PMID:23918947 PMID:24107445 PMID:24163374 PMID:24388723 PMID:24508103 PMID:24512911 PMID:24576830 PMID:24583796 PMID:24586605 PMID:24594804 PMID:24670642 PMID:24717435 PMID:25024077 PMID:25079330 PMID:25157968 PMID:25370471 PMID:25741868 PMID:25950823 PMID:25989278 PMID:26619011 PMID:26678033 PMID:28854169 PMID:29925953 PMID:31891627 PMID:34476331 More...
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NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
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G |
Brca2 |
BRCA2, DNA repair associated |
susceptibility |
ISO |
DNA:deletion, point mutations: :886delGT, 4876G>T, IVS7+2T>G ClinVar Annotator: match by term: Wilms tumor 1 | ClinVar Annotator: match by term: Wilms tumor, somatic ClinVar Annotator: match by term: Nephroblastoma | ClinVar Annotator: match by term: Wilms tumor 1 | ClinVar Annotator: match by term: Wilms tumor, somatic CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD RGD |
PMID:251866 PMID:278235 PMID:8589730 PMID:8673090 PMID:8988179 PMID:9150154 PMID:9150172 PMID:9150174 PMID:9536098 PMID:9667259 PMID:9792861 PMID:10399947 PMID:10570174 PMID:10638982 PMID:10644434 PMID:10660329 PMID:10682686 PMID:10699917 PMID:10790213 PMID:10874312 PMID:10978364 PMID:11062481 PMID:11149425 PMID:11179017 PMID:11207042 PMID:11307153 PMID:11389159 PMID:11400546 PMID:11504767 PMID:11556836 PMID:11597388 PMID:11754111 PMID:11802209 PMID:11843247 PMID:11857748 PMID:11897832 PMID:11927503 PMID:11929857 PMID:12065746 PMID:12097290 PMID:12142080 PMID:12181777 PMID:12215251 PMID:12373604 PMID:12474142 PMID:12556369 PMID:12655567 PMID:12845657 PMID:12955716 PMID:12960223 PMID:14555511 PMID:14559878 PMID:14647210 PMID:14670928 PMID:15024741 PMID:15070707 PMID:15131399 PMID:15168169 PMID:15235023 PMID:15290653 PMID:15340362 PMID:15382066 PMID:15689453 PMID:15695382 PMID:15800311 PMID:15887246 PMID:16030099 PMID:16115142 PMID:16168118 PMID:16168123 PMID:16199547 PMID:16234499 PMID:16284991 PMID:16389418 PMID:16455195 PMID:16489001 PMID:16683254 PMID:16758124 PMID:16760289 PMID:16825431 PMID:16847550 PMID:16905680 PMID:16912212 PMID:16920162 PMID:16978908 PMID:17011978 PMID:17063270 PMID:17148771 PMID:17262179 PMID:17301269 PMID:17513806 PMID:17574839 PMID:17576681 PMID:17636422 PMID:17688236 PMID:17767707 PMID:17924331 PMID:17925560 PMID:17972171 PMID:18042939 PMID:18182994 PMID:18284688 PMID:18375895 PMID:18393245 PMID:18424508 PMID:18446624 PMID:18451181 PMID:18465347 PMID:18489799 PMID:18497862 PMID:18547621 PMID:18607349 PMID:18694767 PMID:18703817 PMID:18704680 PMID:18752448 PMID:18821011 PMID:18951461 PMID:19016756 PMID:19043619 PMID:19241424 PMID:19353265 PMID:19491284 PMID:19530235 PMID:19620486 PMID:19654294 PMID:19656164 PMID:19861517 PMID:19863560 PMID:19941162 PMID:19941167 PMID:19949876 PMID:19967274 PMID:20033483 PMID:20104584 PMID:20135345 PMID:20167696 PMID:20373018 PMID:20383589 PMID:20406929 PMID:20616022 PMID:20694749 PMID:20736950 PMID:20858050 PMID:21120943 PMID:21205087 PMID:21232165 PMID:21324516 PMID:21356067 PMID:21394826 PMID:21520273 PMID:21523855 PMID:21559243 PMID:21643751 PMID:21673748 PMID:21702907 PMID:21709188 PMID:21913181 PMID:21918853 PMID:21952622 PMID:21990134 PMID:22006311 PMID:22009639 PMID:22085629 PMID:22109874 PMID:22144684 PMID:22217648 PMID:22426013 PMID:22430266 PMID:22476429 PMID:22505045 PMID:22535016 PMID:22632462 PMID:22666503 PMID:22682623 PMID:22703879 PMID:22752604 PMID:22762150 PMID:22798144 PMID:22848303 PMID:22875147 PMID:22923021 PMID:22970155 PMID:23028338 PMID:23035815 PMID:23096105 PMID:23108138 PMID:23110154 PMID:23146383 PMID:23199084 PMID:23231788 PMID:23233716 PMID:23318356 PMID:23415752 PMID:23451180 PMID:23469205 PMID:23479189 PMID:23569316 PMID:23613520 PMID:23621881 PMID:23683081 PMID:23725378 PMID:23767878 PMID:23884708 PMID:23929434 PMID:23942203 PMID:23961350 PMID:24013206 PMID:24033266 PMID:24052750 PMID:24055113 PMID:24123850 PMID:24141157 PMID:24156927 PMID:24212087 PMID:24249303 PMID:24301060 PMID:24312913 PMID:24323938 PMID:24504028 PMID:24528374 PMID:24549055 PMID:24556621 PMID:24607278 PMID:24618965 PMID:24728189 PMID:24728327 PMID:24737347 PMID:24814045 PMID:24817641 PMID:24830819 PMID:24884479 PMID:24916970 PMID:25066507 PMID:25085752 PMID:25136594 PMID:25146914 PMID:25186627 PMID:25236687 PMID:25274553 PMID:25330149 PMID:25348012 PMID:25371446 PMID:25382762 PMID:25428789 PMID:25447315 PMID:25452441 PMID:25476495 PMID:25480878 PMID:25525159 PMID:25556971 PMID:25637381 PMID:25682074 PMID:25685387 PMID:25737278 PMID:25741868 PMID:25782689 PMID:25802882 PMID:25863477 PMID:25884701 PMID:25948282 PMID:26022348 PMID:26026974 PMID:26046366 PMID:26064523 PMID:26187060 PMID:26287763 PMID:26295337 PMID:26360800 PMID:26425718 PMID:26436112 PMID:26439132 PMID:26467025 PMID:26541979 PMID:26543556 PMID:26580448 PMID:26657402 PMID:26681312 PMID:26689913 PMID:26733283 PMID:26757417 PMID:26786923 PMID:26834852 PMID:26845104 PMID:26852015 PMID:26933808 PMID:27000661 PMID:27060066 PMID:27062684 PMID:27153395 PMID:27157322 PMID:27165126 PMID:27257965 PMID:27271530 PMID:27376475 PMID:27425403 PMID:27433846 PMID:27469594 PMID:27535533 PMID:27553368 PMID:27732944 PMID:27741520 PMID:27767231 PMID:27831900 PMID:27836010 PMID:28008555 PMID:28039656 PMID:28111427 PMID:28176296 PMID:28243543 PMID:28281021 PMID:28283652 PMID:28294317 PMID:28324225 PMID:28339459 PMID:28349240 PMID:28423363 PMID:28477318 PMID:28492532 PMID:28503720 PMID:28541631 PMID:28616458 PMID:28657667 PMID:28664506 PMID:28692638 PMID:28715532 PMID:28724667 PMID:28825054 PMID:28831036 PMID:28905878 PMID:28915716 PMID:28918466 PMID:28973083 PMID:28993434 PMID:29061375 PMID:29084914 PMID:29088781 PMID:29161300 PMID:29176636 PMID:29192238 PMID:29215753 PMID:29321669 PMID:29325860 PMID:29335924 PMID:29335925 PMID:29339979 PMID:29348823 PMID:29360161 PMID:29368341 PMID:29371908 PMID:29383094 PMID:29394989 PMID:29446198 PMID:29470806 PMID:29478780 PMID:29483665 PMID:29489754 PMID:29492181 PMID:29506128 PMID:29566657 PMID:29625052 PMID:29752822 PMID:29753700 PMID:29790872 PMID:29884136 PMID:29884841 PMID:29907814 PMID:29909963 PMID:29915322 PMID:29988080 PMID:30014164 PMID:30078507 PMID:30093976 PMID:30122538 PMID:30128899 PMID:30199306 PMID:30203341 PMID:30254663 PMID:30274973 PMID:30287823 PMID:30309722 PMID:30322717 PMID:30350268 PMID:30415210 PMID:30472649 PMID:30548481 PMID:30606148 PMID:30612635 PMID:30623411 PMID:30630528 PMID:30652428 PMID:30696104 PMID:30702160 PMID:30720243 PMID:30720863 PMID:30787465 PMID:30792206 PMID:30875412 PMID:30972954 PMID:30982232 PMID:31090900 PMID:31112363 PMID:31131967 PMID:31143373 PMID:31159747 PMID:31174498 PMID:31191615 PMID:31209999 PMID:31214711 PMID:31263054 PMID:31263571 PMID:31325073 PMID:31331294 PMID:31343793 PMID:31360904 PMID:31396961 PMID:31411802 PMID:31444830 PMID:31447099 PMID:31451522 PMID:31569370 PMID:31589614 PMID:31642931 PMID:31721781 PMID:31742824 PMID:31825140 PMID:31837001 PMID:31843900 PMID:31871109 PMID:31892343 PMID:31911673 PMID:31948886 PMID:31957001 PMID:31980526 PMID:32029870 PMID:32098980 PMID:32101877 PMID:32164353 PMID:32190957 PMID:32295079 PMID:32300229 PMID:32318955 PMID:32338768 PMID:32341426 PMID:32354836 PMID:32393398 PMID:32398771 PMID:32426482 PMID:32427313 PMID:32438681 PMID:32444794 PMID:32467295 PMID:32486089 PMID:32521533 PMID:32532514 PMID:32571290 PMID:32581362 PMID:32658311 PMID:32710294 PMID:32719484 PMID:32720237 PMID:32772980 PMID:32778078 PMID:32806537 PMID:32824581 PMID:32846166 PMID:32853339 PMID:32862574 PMID:32875559 PMID:32885271 PMID:32923906 PMID:33008098 PMID:33087929 PMID:33113089 PMID:33309985 PMID:33372952 PMID:33461583 PMID:33471991 PMID:33478551 PMID:33608381 PMID:33609447 PMID:33629534 PMID:33670479 PMID:33773534 PMID:33801055 PMID:33918338 PMID:33964450 PMID:34008015 PMID:34022715 PMID:34097676 PMID:34196900 PMID:34298626 PMID:34399810 PMID:34413315 PMID:34567246 PMID:34597585 PMID:34645131 PMID:34657357 PMID:34657373 PMID:34687993 PMID:35220195 PMID:35264596 PMID:35353237 PMID:35451682 PMID:35535697 PMID:35714671 PMID:35753294 PMID:35949895 PMID:36119527 PMID:36232564 PMID:36329109 PMID:36370215 PMID:36988593 PMID:37349538 PMID:37461096 PMID:38417439 PMID:15689453 More...
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RGD:2289049 |
NCBI chr12:59,492...103,789
Ensembl chr12:59,819...100,567
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G |
Ccdc160 |
coiled-coil domain containing 160 |
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ISO |
ClinVar Annotator: match by term: Wilms tumor 1 |
ClinVar |
PMID:10402475 PMID:12713262 PMID:17603795 PMID:21362501 PMID:28492532 |
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NCBI chr X:132,468,141...132,478,616
Ensembl chr X:132,468,213...132,478,431
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G |
Ccnd2 |
cyclin D2 |
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ISO |
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RGD |
PMID:15797629 |
RGD:2289153 |
NCBI chr 4:159,966,883...159,989,261
Ensembl chr 4:159,962,363...159,989,495
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G |
Cd44 |
CD44 molecule |
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ISO |
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RGD |
PMID:12131349 |
RGD:2289361 |
NCBI chr 3:89,155,850...89,244,615
Ensembl chr 3:89,157,058...89,244,620
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G |
Cdk15 |
cyclin-dependent kinase 15 |
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ISO |
mRNA:increased expression:kidney |
RGD |
PMID:12057921 |
RGD:2316755 |
NCBI chr 9:60,710,787...60,803,638
Ensembl chr 9:60,711,715...60,802,777
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G |
Cdk4 |
cyclin-dependent kinase 4 |
disease_progression |
ISO |
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RGD |
PMID:15797629 |
RGD:2289153 |
NCBI chr 7:62,886,124...62,889,562
Ensembl chr 7:62,883,105...62,942,403
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G |
Cdkn1b |
cyclin-dependent kinase inhibitor 1B |
disease_progression |
ISO |
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RGD |
PMID:14760081 |
RGD:2293605 |
NCBI chr 4:167,760,067...167,765,177
Ensembl chr 4:167,760,181...167,764,982
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G |
Cdkn2a |
cyclin-dependent kinase inhibitor 2A |
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ISO |
protein:increased expression:kidney |
RGD |
PMID:17369505 |
RGD:2289679 |
NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149
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G |
Cdkn2a_v1 |
cyclin-dependent kinase inhibitor 2A, variant 1 |
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ISO |
protein:increased expression:kidney |
RGD |
PMID:17369505 |
RGD:2289679 |
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G |
Chek2 |
checkpoint kinase 2 |
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ISO |
ClinVar Annotator: match by term: Nephroblastoma |
ClinVar |
PMID:10617473 PMID:11719428 PMID:11967536 PMID:15492928 PMID:18759107 PMID:19030985 PMID:20722467 PMID:21244692 PMID:21876083 PMID:21956126 PMID:22006311 PMID:22058216 PMID:22058428 PMID:22520019 PMID:22691310 PMID:22811390 PMID:22994785 PMID:23109706 PMID:23329222 PMID:23409019 PMID:23415889 PMID:24723567 PMID:26822237 More...
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NCBI chr12:45,788,823...45,821,382
Ensembl chr12:45,788,827...45,821,286
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G |
Col6a3 |
collagen type VI alpha 3 chain |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28825729 |
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NCBI chr 9:91,361,578...91,439,434
Ensembl chr 9:91,361,583...91,439,471
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G |
Ctnnb1 |
catenin beta 1 |
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ISO |
protein:increased expression:kidney ClinVar Annotator: match by term: Nephroblastoma CTD Direct Evidence: marker/mechanism DNA:mutations: :multiple |
ClinVar CTD RGD |
PMID:9065402 PMID:9065403 PMID:10027390 PMID:10435629 PMID:11351304 PMID:11930117 PMID:11950921 PMID:12124804 PMID:15133491 PMID:21237236 PMID:24788118 PMID:25157968 PMID:26619011 PMID:26822237 PMID:28825729 PMID:12890743 PMID:12239584 More...
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RGD:2289833, RGD:2289834 |
NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111
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G |
Cxcr2 |
C-X-C motif chemokine receptor 2 |
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ISO |
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RGD |
PMID:17634442 |
RGD:7257700 |
NCBI chr 9:75,729,493...75,735,868
Ensembl chr 9:75,729,115...75,739,425
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G |
Dgcr8 |
DGCR8 microprocessor complex subunit |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28825729 |
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NCBI chr11:82,704,673...82,737,251
Ensembl chr11:82,704,729...82,737,242
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G |
Dicer1 |
dicer 1 ribonuclease III |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28825729 |
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NCBI chr 6:123,627,529...123,692,278
Ensembl chr 6:123,631,250...123,693,965
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G |
Dis3l2 |
DIS3-like 3'-5' exoribonuclease 2 |
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ISO |
DNA:missense mutations, deletions:multiple (human) |
RGD |
PMID:22306653 |
RGD:11558020 |
NCBI chr 9:87,355,409...87,736,616
Ensembl chr 9:87,356,457...87,736,616
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G |
Drosha |
drosha ribonuclease III |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28825729 |
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NCBI chr 2:61,864,886...61,976,688
Ensembl chr 2:61,864,970...61,976,688
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G |
Erbb2 |
erb-b2 receptor tyrosine kinase 2 |
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ISO |
protein:increased expression:kidney |
RGD |
PMID:16932912 |
RGD:2289932 |
NCBI chr10:83,411,197...83,435,078
Ensembl chr10:83,411,313...83,435,078
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G |
Flt1 |
Fms related receptor tyrosine kinase 1 |
severity |
ISO |
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RGD |
PMID:12560388 |
RGD:2289966 |
NCBI chr12:7,296,899...7,468,626
Ensembl chr12:7,297,292...7,468,626
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G |
Fzd6 |
frizzled class receptor 6 |
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ISO |
ClinVar Annotator: match by term: Nephroblastoma |
ClinVar |
PMID:26822237 |
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NCBI chr 7:70,055,012...70,086,781
Ensembl chr 7:70,055,068...70,086,776
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G |
Fzd7 |
frizzled class receptor 7 |
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ISO |
mRNA:increased expression:kidney |
RGD |
PMID:12057921 |
RGD:2316755 |
NCBI chr 9:60,931,433...60,934,252
Ensembl chr 9:60,930,875...60,935,781
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G |
Glipr1 |
GLI pathogenesis-related 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18030365 |
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NCBI chr 7:47,487,342...47,498,974
Ensembl chr 7:47,487,345...47,498,429
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G |
Gpc3 |
glypican 3 |
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ISO |
ClinVar Annotator: match by term: Nephroblastoma | ClinVar Annotator: match by term: Wilms tumor 1 | ClinVar Annotator: match by term: Wilms tumor, somatic ClinVar Annotator: match by term: Nephroblastoma | ClinVar Annotator: match by term: Wilms tumor | ClinVar Annotator: match by term: Wilms tumor 1 | ClinVar Annotator: match by term: Wilms tumor, somatic CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:8589713 PMID:8958336 PMID:9192268 PMID:9536098 PMID:10402475 PMID:10814714 PMID:12085187 PMID:12713262 PMID:16199547 PMID:17576681 PMID:17603795 PMID:17850639 PMID:19215053 PMID:20301398 PMID:20683991 PMID:20950395 PMID:21362501 PMID:21434539 PMID:24033266 PMID:24169032 PMID:24214682 PMID:24357529 PMID:24459012 PMID:24728327 PMID:25640679 PMID:25741868 PMID:26467025 PMID:27739211 PMID:28492532 PMID:29637653 PMID:31304847 More...
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NCBI chr X:131,868,986...132,236,824
Ensembl chr X:131,868,990...132,236,798
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G |
Gpc4 |
glypican 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr X:131,644,711...131,755,349
Ensembl chr X:131,644,704...131,755,284
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G |
H19 |
H19 imprinted maternally expressed transcript |
susceptibility |
ISO |
associated with Beckwith-Wiedemann Syndrome;DNA:hypermethylation CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:11436121 |
RGD:2306181 |
NCBI chr 1:197,730,698...197,733,374
Ensembl chr 1:197,730,698...197,733,134
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G |
Hif1a |
hypoxia inducible factor 1 subunit alpha |
severity |
ISO |
protein:increased expression:kidney |
RGD |
PMID:17937859 |
RGD:2291911 |
NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261
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G |
Hprt1 |
hypoxanthine phosphoribosyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Wilms tumor 1 |
ClinVar |
PMID:10402475 PMID:12713262 PMID:17603795 PMID:21362501 PMID:28492532 |
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NCBI chr X:132,736,175...132,768,149
Ensembl chr X:132,736,096...132,768,154
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G |
Igf1r |
insulin-like growth factor 1 receptor |
treatment |
ISO |
human cells in a mouse model mRNA:increased expression:kidney (human) |
RGD |
PMID:22529373 PMID:8390684 PMID:8390684 |
RGD:7242789, RGD:12904709, RGD:12904709 |
NCBI chr 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777
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G |
Igf2 |
insulin-like growth factor 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8252039 |
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NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018
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G |
Igf2r |
insulin-like growth factor 2 receptor |
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ISO |
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RGD |
PMID:9070652 |
RGD:7242956 |
NCBI chr 1:47,979,109...48,067,501
Ensembl chr 1:47,979,109...48,067,501
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G |
Jup |
junction plakoglobin |
disease_progression |
ISO |
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RGD |
PMID:17633921 |
RGD:2301745 |
NCBI chr10:85,300,438...85,327,378
Ensembl chr10:85,300,440...85,327,057
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G |
Kdm4d |
lysine demethylase 4D |
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ISO |
mRNA:increased expression:kidney (human) |
RGD |
PMID:24219278 |
RGD:9588525 |
NCBI chr 8:11,279,756...11,304,920
Ensembl chr 8:11,268,859...11,305,290
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Kit |
KIT proto-oncogene receptor tyrosine kinase |
disease_progression |
ISO |
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RGD |
PMID:19010635 |
RGD:12910726 |
NCBI chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652
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G |
Lin28a |
lin-28 homolog A |
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ISS |
OMIM:194070 |
MouseDO |
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NCBI chr 5:146,227,119...146,244,122
Ensembl chr 5:146,227,119...146,244,122
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G |
Map3k4 |
mitogen activated protein kinase kinase kinase 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28825729 |
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NCBI chr 1:48,431,801...48,519,358
Ensembl chr 1:48,431,830...48,519,358
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G |
Max |
MYC associated factor X |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28825729 |
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NCBI chr 6:95,636,859...95,662,204
Ensembl chr 6:95,636,858...95,662,137
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G |
Med12 |
mediator complex subunit 12 |
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ISO |
ClinVar Annotator: match by term: Nephroblastoma | ClinVar Annotator: match by term: Wilms tumor, somatic |
ClinVar |
PMID:25741868 PMID:26822237 |
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NCBI chr X:66,404,807...66,427,775
Ensembl chr X:66,404,760...66,428,387
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G |
Mir106a |
microRNA 106a |
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ISO |
ClinVar Annotator: match by term: Wilms tumor 1 |
ClinVar |
PMID:10402475 PMID:12713262 PMID:17603795 PMID:21362501 PMID:28492532 |
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NCBI chr X:132,422,584...132,422,661
Ensembl chr X:132,422,584...132,422,661
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G |
Mir19b2 |
microRNA 19b-2 |
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ISO |
ClinVar Annotator: match by term: Wilms tumor 1 |
ClinVar |
PMID:10402475 PMID:12713262 PMID:17603795 PMID:21362501 PMID:28492532 |
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NCBI chr X:132,422,072...132,422,167
Ensembl chr X:132,422,072...132,422,167
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G |
Mllt1 |
MLLT1, super elongation complex subunit |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28825729 |
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NCBI chr 9:1,731,077...1,775,985
Ensembl chr 9:1,731,080...1,775,970
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G |
Mthfr |
methylenetetrahydrofolate reductase |
susceptibility |
ISO |
DNA:transition:cds:g.677C>T (human) |
RGD |
PMID:19346876 |
RGD:6893546 |
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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G |
Myc |
MYC proto-oncogene, bHLH transcription factor |
severity |
ISO |
protein:increased expression:kidney (mouse) mRNA:decreased expression:tumor (human) |
RGD |
PMID:21983638 PMID:18260125 |
RGD:7207786, RGD:7207840 |
NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630
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G |
Mycn |
MYCN proto-oncogene, bHLH transcription factor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28825729 |
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NCBI chr 6:35,717,764...35,723,590
Ensembl chr 6:35,717,764...35,723,590
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G |
Nono |
non-POU domain containing, octamer-binding |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28825729 |
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NCBI chr X:66,554,131...66,571,992
Ensembl chr X:66,554,098...66,571,952
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G |
Pak1 |
p21 (RAC1) activated kinase 1 |
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ISO |
mRNA:increased expression:kidney |
RGD |
PMID:12165855 |
RGD:2299168 |
NCBI chr 1:152,111,172...152,226,390
Ensembl chr 1:152,111,188...152,226,383
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G |
Pax2 |
paired box 2 |
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ISO IEP |
mRNA:increased expression:kidney |
RGD |
PMID:12057921 PMID:7937920 |
RGD:2316755, RGD:2316757 |
NCBI chr 1:243,616,509...243,697,454
Ensembl chr 1:243,616,606...243,695,321
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G |
Pcna |
proliferating cell nuclear antigen |
disease_progression |
ISO |
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RGD |
PMID:11869017 |
RGD:2315007 |
NCBI chr 3:119,499,039...119,502,911
Ensembl chr 3:119,498,810...119,502,995
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G |
Phf6 |
PHD finger protein 6 |
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ISO |
ClinVar Annotator: match by term: Wilms tumor 1 |
ClinVar |
PMID:10402475 PMID:12713262 PMID:17603795 PMID:21362501 PMID:28492532 |
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NCBI chr X:132,656,658...132,699,720
Ensembl chr X:132,656,672...132,699,127
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G |
Ptgs2 |
prostaglandin-endoperoxide synthase 2 |
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ISO |
protein:increased expression:kidney |
RGD |
PMID:16945639 |
RGD:2300206 |
NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
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G |
Rest |
RE1-silencing transcription factor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26551668 |
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NCBI chr14:30,859,109...30,879,828
Ensembl chr14:30,862,553...30,894,354
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G |
Serpinf1 |
serpin family F member 1 |
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ISO |
protein:decreased expression:kidney |
RGD |
PMID:16863836 |
RGD:2312354 |
NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646
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G |
Six1 |
SIX homeobox 1 |
severity |
ISO |
DNA:missense mutation:cds:p.Q177R (human) CTD Direct Evidence: marker/mechanism protein:increased expression:kidney, blastema (human) |
CTD RGD |
PMID:28825729 PMID:25670083 PMID:22180226 |
RGD:11561953, RGD:11561963 |
NCBI chr 6:91,746,739...91,751,975
Ensembl chr 6:91,746,739...91,751,975
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G |
Six2 |
SIX homeobox 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28825729 |
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NCBI chr 6:8,974,859...8,981,345
Ensembl chr 6:8,967,157...8,981,193
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G |
Slc2a1 |
solute carrier family 2 member 1 |
severity |
ISO |
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RGD |
PMID:22483234 |
RGD:12879482 |
NCBI chr 5:132,717,196...132,745,416
Ensembl chr 5:132,717,196...132,745,416
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G |
Smad4 |
SMAD family member 4 |
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ISO |
ClinVar Annotator: match by term: Nephroblastoma |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438
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G |
Stat1 |
signal transducer and activator of transcription 1 |
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ISO |
protein:increased serine phosphorylation:kidney |
RGD |
PMID:16799645 |
RGD:2291893 |
NCBI chr 9:49,419,561...49,459,969
Ensembl chr 9:49,419,340...49,588,540
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G |
Stat3 |
signal transducer and activator of transcription 3 |
disease_progression |
ISO |
protein:increased expression:kidney |
RGD |
PMID:17937859 |
RGD:2291911 |
NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
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G |
Terc |
telomerase RNA component |
disease_progression |
ISO |
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RGD |
PMID:16172460 |
RGD:2291966 |
NCBI chr 2:112,815,654...112,816,041
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G |
Tert |
telomerase reverse transcriptase |
disease_progression |
ISO |
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RGD |
PMID:16172460 |
RGD:2291966 |
NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561
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G |
Tet2 |
tet methylcytosine dioxygenase 2 |
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ISO |
ClinVar Annotator: match by term: Nephroblastoma |
ClinVar |
PMID:26822237 |
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NCBI chr 2:221,988,645...222,072,813
Ensembl chr 2:221,988,645...222,072,534
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G |
Timp4 |
TIMP metallopeptidase inhibitor 4 |
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ISO |
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RGD |
PMID:11466614 |
RGD:2290439 |
NCBI chr 4:148,306,021...148,312,558
Ensembl chr 4:148,304,490...148,312,558
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G |
Top2a |
DNA topoisomerase II alpha |
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ISO |
mRNA:increased expression:kidney |
RGD |
PMID:12438255 PMID:16556665 |
RGD:2315132, RGD:2315131 |
NCBI chr10:83,945,731...83,976,874
Ensembl chr10:83,945,735...83,976,874
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G |
Tp53 |
tumor protein p53 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28825729 |
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NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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G |
Tp73 |
tumor protein p73 |
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ISO |
DNA:loss of heterozygosity:kidney |
RGD |
PMID:10760569 |
RGD:2291834 |
NCBI chr 5:164,621,377...164,703,958
Ensembl chr 5:164,621,377...164,681,128
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G |
Trim28 |
tripartite motif-containing 28 |
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ISO |
ClinVar Annotator: match by term: Nephroblastoma | ClinVar Annotator: match by term: Wilms tumor 1 |
ClinVar |
PMID:25741868 PMID:28492532 PMID:32699065 |
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NCBI chr 1:73,652,441...73,659,388
Ensembl chr 1:73,652,709...73,659,380
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G |
Trip13 |
thyroid hormone receptor interactor 13 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28553959 |
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NCBI chr 1:29,357,093...29,402,078
Ensembl chr 1:29,357,130...29,402,074
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G |
Vegfc |
vascular endothelial growth factor C |
disease_progression |
ISO |
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RGD |
PMID:17257131 |
RGD:2315481 |
NCBI chr16:37,712,251...37,827,845
Ensembl chr16:37,712,262...37,827,848
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G |
Vhl |
von Hippel-Lindau tumor suppressor |
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IEP ISO |
protein:decreased expression:kidney CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:11880179 PMID:11880179 |
RGD:625549 |
NCBI chr 4:146,772,483...146,779,376
Ensembl chr 4:146,772,468...146,779,377
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G |
Wif1 |
Wnt inhibitory factor 1 |
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ISO |
mRNA:increased expression:kidney |
RGD |
PMID:16575872 |
RGD:2291870 |
NCBI chr 7:56,548,060...56,618,364
Ensembl chr 7:56,548,053...56,618,360
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G |
Wt1 |
WT1 transcription factor |
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ISO |
DNA:point mutations:exon:1084C>T; 1297_1298insC, 1298_1299delCG,(human) ClinVar Annotator: match by term: Nephroblastoma | ClinVar Annotator: match by term: Wilms tumor 1 | ClinVar Annotator: match by term: Wilms tumor, somatic ClinVar Annotator: match by term: Nephroblastoma | ClinVar Annotator: match by term: Wilms tumor | ClinVar Annotator: match by term: Wilms tumor 1 | ClinVar Annotator: match by term: Wilms tumor, somatic CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM RGD |
PMID:1302008 PMID:1327525 PMID:1338906 PMID:1654525 PMID:1655284 PMID:1658787 PMID:2154335 PMID:2154702 PMID:6307071 PMID:7795587 PMID:8295405 PMID:8388765 PMID:8621495 PMID:8810912 PMID:8975729 PMID:9090524 PMID:9108089 PMID:9398852 PMID:9475094 PMID:9499425 PMID:9529364 PMID:9531607 PMID:9536098 PMID:9607189 PMID:9745866 PMID:9817285 PMID:10094551 PMID:10224085 PMID:10470095 PMID:10505699 PMID:10505700 PMID:10561752 PMID:10571943 PMID:10603123 PMID:10670748 PMID:10762296 PMID:10792605 PMID:11007843 PMID:11182928 PMID:11241055 PMID:11278460 PMID:11322369 PMID:11738793 PMID:12050205 PMID:12471221 PMID:12640141 PMID:12855602 PMID:12882970 PMID:12970737 PMID:15150775 PMID:15266301 PMID:15483024 PMID:15509792 PMID:15591903 PMID:16199547 PMID:16439601 PMID:16932893 PMID:16987884 PMID:17496156 PMID:17541636 PMID:17576681 PMID:17694336 PMID:17853480 PMID:18203154 PMID:18559874 PMID:18591546 PMID:18618575 PMID:18688870 PMID:19048299 PMID:19171881 PMID:19205749 PMID:19221039 PMID:19484379 PMID:19494353 PMID:19536888 PMID:20106868 PMID:20368469 PMID:20413658 PMID:20435628 PMID:20442690 PMID:20595692 PMID:21125408 PMID:21499692 PMID:21504297 PMID:21508141 PMID:21851196 PMID:22099579 PMID:22172722 PMID:22465478 PMID:22703879 PMID:22796116 PMID:22815844 PMID:22908070 PMID:23117548 PMID:23295293 PMID:23302619 PMID:23497137 PMID:23515051 PMID:23715653 PMID:23935527 PMID:24033266 PMID:24161391 PMID:24402088 PMID:24728327 PMID:24856380 PMID:25110071 PMID:25349199 PMID:25451826 PMID:25461826 PMID:25501161 PMID:25623218 PMID:25720465 PMID:25741868 PMID:25813279 PMID:25818337 PMID:25932436 PMID:26069768 PMID:26248470 PMID:26358501 PMID:26467025 PMID:26725263 PMID:26822237 PMID:26882358 PMID:27013732 PMID:27300205 PMID:27719739 PMID:27854218 PMID:27899157 PMID:28081536 PMID:28204945 PMID:28492532 PMID:28780565 PMID:28811308 PMID:28825729 PMID:29474669 PMID:29668062 PMID:30406062 PMID:30655312 PMID:30721404 PMID:30963316 PMID:31738409 PMID:31937884 PMID:31970404 PMID:32352694 PMID:32581362 PMID:32604935 PMID:32891756 PMID:34490048 PMID:34622098 PMID:35211794 PMID:35535697 PMID:35904974 PMID:36349777 PMID:36980135 PMID:38054408 PMID:8381965 PMID:15118671 PMID:1316081 More...
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RGD:2315545, RGD:1331525, RGD:2315544 |
NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643
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G |
Xpo5 |
exportin 5 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28825729 |
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NCBI chr 9:14,740,182...14,778,171
Ensembl chr 9:14,740,182...14,778,171
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G |
Camk1 |
calcium/calmodulin-dependent protein kinase I |
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ISO |
ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma |
ClinVar |
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NCBI chr 4:146,481,196...146,492,039
Ensembl chr 4:146,481,196...146,492,081
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G |
Flcn |
folliculin |
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ISS ISO |
OMIM:144700 ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma |
MouseDO ClinVar |
PMID:12204536 PMID:12471204 PMID:15852235 PMID:16199547 PMID:17496196 PMID:18234728 PMID:18505456 PMID:19116017 PMID:19562744 PMID:20301695 PMID:20522427 PMID:21538689 PMID:23757202 PMID:23784378 PMID:24728327 PMID:25326637 PMID:25519458 PMID:25610687 PMID:25741868 PMID:25827758 PMID:26028485 PMID:26402642 PMID:26467025 PMID:26659639 PMID:27153395 PMID:27220747 PMID:27734835 PMID:27905298 PMID:28492532 PMID:28839995 PMID:29357828 PMID:29548312 PMID:30360018 PMID:31471370 PMID:31958439 PMID:32091409 PMID:33137092 PMID:33294559 PMID:34008892 PMID:34229741 PMID:34654685 PMID:35221599 PMID:35441217 PMID:35578266 PMID:35639097 PMID:35946080 More...
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NCBI chr10:44,588,621...44,607,808
Ensembl chr10:44,588,624...44,607,769
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G |
Hnf1a |
HNF1 homeobox A |
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ISO |
ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma |
ClinVar |
PMID:8945470 PMID:9112026 PMID:9133564 PMID:9287053 PMID:9604876 PMID:10333057 PMID:10588527 PMID:10634407 PMID:10852449 PMID:11058894 PMID:11289470 PMID:12359128 PMID:12574234 PMID:12618559 PMID:12627330 PMID:12675668 PMID:12788852 PMID:15031772 PMID:15277395 PMID:15761192 PMID:15883474 PMID:15928245 PMID:16046319 PMID:16186275 PMID:16917892 PMID:16963153 PMID:17033837 PMID:17062882 PMID:17116178 PMID:17192490 PMID:17220065 PMID:17407072 PMID:17425917 PMID:17440016 PMID:17496355 PMID:17573900 PMID:17601994 PMID:17700391 PMID:17924661 PMID:17937063 PMID:18003757 PMID:18332101 PMID:18414213 PMID:18439552 PMID:18498634 PMID:18513305 PMID:18811724 PMID:19672314 PMID:20031592 PMID:20393147 PMID:20690076 PMID:20981092 PMID:23348805 PMID:23771925 PMID:24097065 PMID:24728327 PMID:24933231 PMID:25057215 PMID:25575005 PMID:25741868 PMID:26467025 PMID:26981542 PMID:27035118 PMID:27130141 PMID:27899486 PMID:28105082 PMID:28492532 PMID:29758564 PMID:29895593 PMID:30455330 PMID:31109344 PMID:31517624 PMID:31673528 PMID:32395877 PMID:32910913 PMID:32928877 PMID:33363396 PMID:34668636 PMID:34803393 PMID:35328643 PMID:35673428 PMID:37492105 More...
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NCBI chr12:41,638,536...41,672,806
Ensembl chr12:41,645,587...41,672,104
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G |
Hnf1b |
HNF1 homeobox B |
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ISO |
ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma |
ClinVar |
PMID:15930087 PMID:16249435 PMID:16371430 PMID:17116179 PMID:18249217 PMID:18644064 PMID:19389850 PMID:19639018 PMID:20155289 PMID:20603712 PMID:21380624 PMID:21775974 PMID:23539225 PMID:24387224 PMID:24897035 PMID:24961278 PMID:25500806 PMID:25536396 PMID:25700310 PMID:25741167 PMID:25741868 PMID:26024028 PMID:26059258 PMID:26226118 PMID:26340261 PMID:26467025 PMID:27615128 PMID:28215227 PMID:28420700 PMID:28492532 PMID:31498910 PMID:31825128 PMID:32708349 PMID:33259036 PMID:33434175 PMID:33532864 PMID:33663443 PMID:33851123 More...
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NCBI chr10:68,735,894...68,789,888
Ensembl chr10:68,735,894...68,789,888
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G |
Ogg1 |
8-oxoguanine DNA glycosylase |
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ISO |
ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma |
ClinVar |
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NCBI chr 4:146,474,701...146,481,959
Ensembl chr 4:146,474,750...146,484,766
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G |
Vhl |
von Hippel-Lindau tumor suppressor |
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ISO |
ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma |
ClinVar |
PMID:7660122 PMID:7728151 PMID:7784063 PMID:7987306 PMID:8270255 PMID:8592333 PMID:8956040 PMID:9058738 PMID:9156047 PMID:9399847 PMID:9671762 PMID:9751722 PMID:9829911 PMID:9829912 PMID:10102622 PMID:10364675 PMID:10766184 PMID:10900011 PMID:11987242 PMID:12000816 PMID:12393546 PMID:12415268 PMID:12702509 PMID:12844285 PMID:14604959 PMID:14722919 PMID:14726398 PMID:14973063 PMID:15300849 PMID:15574766 PMID:15642664 PMID:16210343 PMID:17102069 PMID:17264095 PMID:17992257 PMID:18836774 PMID:19030229 PMID:19304954 PMID:19464396 PMID:19494350 PMID:19574279 PMID:19602254 PMID:20351605 PMID:20660572 PMID:21463266 PMID:21606165 PMID:21685897 PMID:21876117 PMID:21993671 PMID:22393103 PMID:22799452 PMID:23015148 PMID:23403324 PMID:23512077 PMID:23541568 PMID:24583008 PMID:24728327 PMID:25119015 PMID:25157968 PMID:25371412 PMID:25563310 PMID:25583177 PMID:25637381 PMID:25741868 PMID:25966224 PMID:26211615 PMID:26467025 PMID:26681312 PMID:26822237 PMID:27539324 PMID:27651169 PMID:28454591 PMID:28492532 PMID:28873162 PMID:28944243 PMID:29616089 PMID:29790589 PMID:29978187 PMID:30042107 PMID:31132167 PMID:31368132 PMID:34566400 PMID:35032816 More...
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NCBI chr 4:146,772,483...146,779,376
Ensembl chr 4:146,772,468...146,779,377
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G |
Araf |
A-Raf proto-oncogene, serine/threonine kinase |
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ISO |
ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic |
ClinVar |
PMID:24569458 PMID:26619011 |
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NCBI chr X:1,227,392...1,292,356
Ensembl chr X:1,227,392...1,239,073
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G |
Birc3 |
baculoviral IAP repeat-containing 3 |
exacerbates |
ISO |
mRNA:increased expression:kidney (human) |
RGD |
PMID:31964418 |
RGD:153344516 |
NCBI chr 8:5,000,844...5,028,470
Ensembl chr 8:5,000,845...5,015,802
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G |
Birc5 |
baculoviral IAP repeat-containing 5 |
disease_progression |
ISO |
mRNA:increased expression:kidney (human) |
RGD |
PMID:31964418 |
RGD:153344516 |
NCBI chr10:103,072,530...103,081,382
Ensembl chr10:103,073,408...103,081,380
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G |
Braf |
B-Raf proto-oncogene, serine/threonine kinase |
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ISO |
ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic | ClinVar Annotator: match by term: Renal cell carcinoma, papillary, 1 |
ClinVar |
PMID:12068308 PMID:12198537 PMID:12447372 PMID:12460918 PMID:12460919 PMID:12619120 PMID:12644542 PMID:12670889 PMID:12794760 PMID:12960123 PMID:14513361 PMID:14602780 PMID:14679157 PMID:15001635 PMID:15035987 PMID:15126572 PMID:15181070 PMID:15342696 PMID:15356022 PMID:15386408 PMID:15687339 PMID:15998781 PMID:16015629 PMID:16174717 PMID:16187918 PMID:16439621 PMID:16772349 PMID:17374713 PMID:17488796 PMID:17785355 PMID:18398503 PMID:19001320 PMID:19010912 PMID:19018267 PMID:19238210 PMID:19376813 PMID:19404918 PMID:19537845 PMID:19561230 PMID:19571295 PMID:20008640 PMID:20350999 PMID:20413299 PMID:20619739 PMID:20630094 PMID:20818844 PMID:20823850 PMID:20857202 PMID:21107320 PMID:21107323 PMID:21129611 PMID:21156289 PMID:21163703 PMID:21426297 PMID:21483012 PMID:21502544 PMID:21639808 PMID:21641636 PMID:21683865 PMID:21975775 PMID:22038996 PMID:22039425 PMID:22048237 PMID:22113612 PMID:22180495 PMID:22281684 PMID:22351686 PMID:22356324 PMID:22389471 PMID:22448344 PMID:22536370 PMID:22586120 PMID:22608338 PMID:22649091 PMID:22663011 PMID:22735384 PMID:22743296 PMID:22773810 PMID:22805292 PMID:22876591 PMID:22972589 PMID:22997239 PMID:23020132 PMID:23031422 PMID:23251002 PMID:23302800 PMID:23325582 PMID:23470635 PMID:23524406 PMID:23549875 PMID:23614898 PMID:23685455 PMID:23812671 PMID:23833300 PMID:23845441 PMID:23918947 PMID:24033266 PMID:24107445 PMID:24112392 PMID:24163374 PMID:24388723 PMID:24446311 PMID:24508103 PMID:24512911 PMID:24576830 PMID:24583796 PMID:24586605 PMID:24594804 PMID:24670642 PMID:24717435 PMID:25024077 PMID:25037139 PMID:25079330 PMID:25157968 PMID:25265492 PMID:25265494 PMID:25370471 PMID:25399551 PMID:25463315 PMID:25741868 PMID:25950823 PMID:25989278 PMID:26619011 PMID:26678033 PMID:27404270 PMID:27480103 PMID:28492532 PMID:28854169 PMID:28891408 PMID:29925953 PMID:31277584 PMID:31779674 PMID:31891627 PMID:34476331 More...
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NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
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G |
Cdkn2a |
cyclin-dependent kinase inhibitor 2A |
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ISO |
ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic |
ClinVar |
PMID:25741868 PMID:26619011 PMID:28492532 |
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NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149
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G |
Erbb2 |
erb-b2 receptor tyrosine kinase 2 |
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ISO |
ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic |
ClinVar |
PMID:18413839 PMID:22046346 PMID:23220880 PMID:25157968 PMID:26619011 |
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NCBI chr10:83,411,197...83,435,078
Ensembl chr10:83,411,313...83,435,078
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G |
Fbxw7 |
F-box and WD repeat domain containing 7 |
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ISO |
ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic |
ClinVar |
PMID:26619011 |
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NCBI chr 2:170,149,706...170,311,536
Ensembl chr 2:170,149,694...170,309,941
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G |
Fgfr3 |
fibroblast growth factor receptor 3 |
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ISO |
ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic |
ClinVar |
PMID:8589699 PMID:8845844 PMID:9438390 PMID:9843049 PMID:10471491 PMID:11038465 PMID:11429702 PMID:11879084 PMID:15772091 PMID:17384684 PMID:19088846 PMID:19331127 PMID:19381019 PMID:19749790 PMID:20301540 PMID:20542753 PMID:21273588 PMID:22869148 PMID:23200862 PMID:24419316 PMID:24476948 PMID:25157968 PMID:25606676 PMID:25614871 PMID:25741868 PMID:26619011 PMID:28249712 PMID:28492532 PMID:29593476 PMID:30692697 PMID:31299979 More...
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NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
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G |
Hras |
HRas proto-oncogene, GTPase |
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ISO |
ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic | ClinVar Annotator: match by term: Renal cell carcinoma, papillary, 1 |
ClinVar |
PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17412879 PMID:17601930 PMID:17979197 PMID:18039947 PMID:18042262 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19371735 PMID:19382114 PMID:19669404 PMID:20301680 PMID:20660566 PMID:20979192 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22317973 PMID:22420426 PMID:22495892 PMID:22499344 PMID:22683711 PMID:22926243 PMID:23093928 PMID:23429430 PMID:23751039 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24803665 PMID:25157968 PMID:25741868 PMID:25815234 PMID:25914166 PMID:26467025 PMID:26619011 PMID:26778095 PMID:27195699 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28492532 PMID:29493581 PMID:30055033 PMID:30138938 PMID:31222966 PMID:31394527 PMID:31560489 PMID:31564432 PMID:31775759 PMID:32371413 PMID:33372952 PMID:34008892 More...
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NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615
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G |
Lrrc56 |
leucine rich repeat containing 56 |
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ISO |
ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic |
ClinVar |
PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17412879 PMID:17601930 PMID:17979197 PMID:18039947 PMID:18042262 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19371735 PMID:19382114 PMID:19669404 PMID:20301680 PMID:20660566 PMID:20979192 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22317973 PMID:22420426 PMID:22495892 PMID:22499344 PMID:22683711 PMID:22926243 PMID:23093928 PMID:23429430 PMID:23751039 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24803665 PMID:25157968 PMID:25741868 PMID:25914166 PMID:26467025 PMID:26619011 PMID:27195699 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28492532 PMID:29493581 PMID:31222966 PMID:31394527 PMID:31775759 PMID:33372952 PMID:34008892 More...
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NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172
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G |
Met |
MET proto-oncogene, receptor tyrosine kinase |
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ISO |
ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic | ClinVar Annotator: match by term: Renal cell carcinoma, papillary, 1 |
ClinVar OMIM |
PMID:1104268 PMID:9140397 PMID:9326629 PMID:9536098 PMID:9563489 PMID:9731534 PMID:9826708 PMID:10327054 PMID:10417759 PMID:10433944 PMID:11042681 PMID:11354004 PMID:11750879 PMID:11927612 PMID:12920089 PMID:14559814 PMID:15371818 PMID:15592501 PMID:15735036 PMID:16189274 PMID:16434318 PMID:17483355 PMID:17576681 PMID:18564920 PMID:19318576 PMID:19723643 PMID:20126411 PMID:20670955 PMID:20949619 PMID:21774103 PMID:21970370 PMID:22703879 PMID:23213094 PMID:23806086 PMID:24033266 PMID:24061647 PMID:24088041 PMID:24121490 PMID:24339735 PMID:24728327 PMID:25157968 PMID:25605252 PMID:25637381 PMID:25640679 PMID:25736269 PMID:25741868 PMID:25859546 PMID:26173098 PMID:26467025 PMID:26718692 PMID:26887047 PMID:27153395 PMID:27666373 PMID:28166811 PMID:28259294 PMID:28294470 PMID:28476232 PMID:28492532 PMID:28619094 PMID:28873162 PMID:29084058 PMID:29202410 PMID:29360161 PMID:29641532 PMID:29684080 PMID:30093976 PMID:30530636 PMID:32934698 PMID:33255238 More...
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NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876
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G |
Mir210 |
microRNA 210 |
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ISO |
miRNA:increased expression:kidney (human) |
RGD |
PMID:23449350 |
RGD:155260320 |
NCBI chr 1:196,326,343...196,326,452
Ensembl chr 1:196,326,337...196,326,454
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G |
Mtor |
mechanistic target of rapamycin kinase |
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ISO |
ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic |
ClinVar |
PMID:20190810 PMID:24631838 PMID:25741868 PMID:26018084 PMID:26619011 PMID:27159400 PMID:27830187 More...
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NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311
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G |
Pik3ca |
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha |
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ISO |
ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic |
ClinVar |
PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 PMID:15805248 PMID:15930273 PMID:16906227 PMID:16930767 PMID:17673550 PMID:18676830 PMID:18725974 PMID:19029981 PMID:19223544 PMID:19366826 PMID:19513541 PMID:19903786 PMID:20453058 PMID:20619739 PMID:21078999 PMID:21430269 PMID:21558396 PMID:22162582 PMID:22162589 PMID:22209294 PMID:22271473 PMID:22357840 PMID:22658544 PMID:22729223 PMID:22729224 PMID:23066039 PMID:23408298 PMID:23888070 PMID:23946963 PMID:24033266 PMID:24265155 PMID:24559322 PMID:25157968 PMID:25599672 PMID:25741868 PMID:25880439 PMID:26619011 PMID:26627007 PMID:26637981 PMID:26851524 PMID:27631024 PMID:28151489 PMID:28425981 PMID:28492532 PMID:29446767 PMID:29661094 PMID:30376034 PMID:30543347 PMID:31536475 PMID:31775759 PMID:32778138 PMID:34496175 PMID:37712948 More...
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NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
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G |
Prcc |
proline rich mitotic checkpoint control factor |
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ISO |
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OMIM |
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NCBI chr 2:173,326,261...173,351,799
Ensembl chr 2:173,326,259...173,351,825
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G |
Rheb |
Ras homolog, mTORC1 binding |
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ISO |
ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic |
ClinVar |
PMID:26619011 |
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NCBI chr 4:10,278,970...10,320,160
Ensembl chr 4:10,279,370...10,320,160
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G |
Tp53 |
tumor protein p53 |
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ISO |
ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic |
ClinVar |
PMID:1565143 PMID:7718482 PMID:7887414 PMID:8023157 PMID:8118819 PMID:8242631 PMID:8401536 PMID:8633021 PMID:9242456 PMID:9627118 PMID:9662334 PMID:10432928 PMID:10589545 PMID:10922393 PMID:11139324 PMID:11668501 PMID:11782540 PMID:12826609 PMID:14559903 PMID:15037740 PMID:15221755 PMID:15977174 PMID:16312222 PMID:16818505 PMID:16861262 PMID:17015838 PMID:17308077 PMID:17390010 PMID:17606709 PMID:18307025 PMID:19101993 PMID:19367569 PMID:19556618 PMID:20028212 PMID:20128691 PMID:20234365 PMID:20407015 PMID:20586629 PMID:20593220 PMID:20805372 PMID:21056685 PMID:21118481 PMID:21343334 PMID:21356188 PMID:21483000 PMID:21514416 PMID:21519010 PMID:21761402 PMID:22186996 PMID:22265402 PMID:22822097 PMID:22869713 PMID:22887876 PMID:22915647 PMID:22923379 PMID:23028800 PMID:23031740 PMID:23246812 PMID:23259501 PMID:23484829 PMID:23630318 PMID:24065105 PMID:24381225 PMID:24487413 PMID:24573247 PMID:24603336 PMID:24641375 PMID:24702488 PMID:24744791 PMID:25256166 PMID:25404506 PMID:25584008 PMID:25741868 PMID:25765855 PMID:25945745 PMID:25952993 PMID:26230955 PMID:26425688 PMID:26467025 PMID:26585234 PMID:26619011 PMID:26911350 PMID:27189670 PMID:27276561 PMID:27328919 PMID:27463065 PMID:27680515 PMID:27714481 PMID:27873457 PMID:27895058 PMID:27959731 PMID:28279309 PMID:28356770 PMID:28369373 PMID:28492532 PMID:28724667 PMID:28772286 PMID:28975465 PMID:29070607 PMID:29752822 PMID:29979965 PMID:30076369 PMID:30224644 PMID:30327374 PMID:30730202 PMID:30816478 PMID:31105275 PMID:31300551 PMID:31775759 PMID:32475984 PMID:32817165 PMID:33087929 PMID:33300245 PMID:33471991 PMID:33674644 PMID:36988593 More...
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NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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G |
Vhl |
von Hippel-Lindau tumor suppressor |
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ISO |
ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic | ClinVar Annotator: match by term: Renal cell carcinoma, papillary, 1 |
ClinVar |
PMID:7660122 PMID:7728151 PMID:7784063 PMID:7987306 PMID:7987327 PMID:8270255 PMID:8522307 PMID:8592333 PMID:8730290 PMID:8956040 PMID:9156047 PMID:9452032 PMID:9829911 PMID:9829912 PMID:10567493 PMID:10900011 PMID:11921283 PMID:12000816 PMID:12114495 PMID:14722919 PMID:14767570 PMID:14973063 PMID:15300849 PMID:17102069 PMID:18446368 PMID:18836774 PMID:19270817 PMID:19464396 PMID:19574279 PMID:19602254 PMID:20120764 PMID:20660572 PMID:21362373 PMID:21463266 PMID:22799452 PMID:23512077 PMID:23842656 PMID:24206762 PMID:24301059 PMID:24707167 PMID:25119015 PMID:25157968 PMID:25563310 PMID:25720320 PMID:25741868 PMID:25867206 PMID:26822237 PMID:27527340 PMID:27539324 PMID:27617348 PMID:28492532 PMID:28944243 PMID:29616089 PMID:30042107 PMID:33720516 More...
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NCBI chr 4:146,772,483...146,779,376
Ensembl chr 4:146,772,468...146,779,377
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G |
Xiap |
X-linked inhibitor of apoptosis |
exacerbates |
ISO |
mRNA:increased expression:kidney (human) |
RGD |
PMID:31964418 |
RGD:153344516 |
NCBI chr X:120,890,537...120,938,413
Ensembl chr X:120,897,907...120,934,700
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G |
Alpg |
alkaline phosphatase, germ cell |
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ISO |
ClinVar Annotator: match by term: Perlman syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:87,748,721...87,761,500
Ensembl chr 9:87,753,648...87,757,836
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G |
Alpi |
alkaline phosphatase, intestinal |
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ISO |
ClinVar Annotator: match by term: Perlman syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:87,773,411...87,776,877
Ensembl chr 9:87,773,411...87,776,877
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G |
Alpp |
alkaline phosphatase, placental |
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ISO |
ClinVar Annotator: match by term: Perlman syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:87,765,846...87,768,606
Ensembl chr 9:87,765,860...87,768,606
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G |
Armc9 |
armadillo repeat containing 9 |
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ISO |
ClinVar Annotator: match by term: Perlman syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:86,802,791...86,928,611
Ensembl chr 9:86,802,868...86,928,860
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G |
Atg16l1 |
autophagy related 16-like 1 |
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ISO |
ClinVar Annotator: match by term: Perlman syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:88,420,737...88,457,530
Ensembl chr 9:88,422,038...88,457,529
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G |
B3gnt7 |
UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7 |
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ISO |
ClinVar Annotator: match by term: Perlman syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:86,956,220...86,960,171
Ensembl chr 9:86,956,220...86,960,170
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G |
C9h2orf72 |
similar to human chromosome 2 open reading frame 72 |
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ISO |
ClinVar Annotator: match by term: Perlman syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:86,691,767...86,699,920
Ensembl chr 9:86,691,867...86,698,185
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G |
Cab39 |
calcium binding protein 39 |
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ISO |
ClinVar Annotator: match by term: Perlman syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:86,463,095...86,524,545
Ensembl chr 9:86,463,095...86,524,544
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G |
Chrnd |
cholinergic receptor nicotinic delta subunit |
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ISO |
ClinVar Annotator: match by term: Perlman syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:87,862,417...87,870,833
Ensembl chr 9:87,862,407...87,870,833
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G |
Chrng |
cholinergic receptor nicotinic gamma subunit |
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ISO |
ClinVar Annotator: match by term: Perlman syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:87,878,085...87,884,193
Ensembl chr 9:87,878,085...87,914,482
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G |
Cops7b |
COP9 signalosome subunit 7B |
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ISO |
ClinVar Annotator: match by term: Perlman syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:87,238,132...87,263,967
Ensembl chr 9:87,238,375...87,263,967
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G |
Ctr9 |
CTR9 homolog, Paf1/RNA polymerase II complex component |
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ISO |
ClinVar Annotator: match by term: Predisposition to Wilms tumor |
ClinVar |
PMID:25099282 PMID:28492532 |
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NCBI chr 1:165,137,277...165,167,303
Ensembl chr 1:165,137,215...165,167,303
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G |
Dgkd |
diacylglycerol kinase, delta |
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ISO |
ClinVar Annotator: match by term: Perlman syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:88,516,686...88,607,349
Ensembl chr 9:88,516,715...88,607,345
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G |
Dis3 |
DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease |
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ISO |
ClinVar Annotator: match by term: Perlman syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr15:75,820,040...75,850,450
Ensembl chr15:75,823,436...75,850,642
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G |
Dis3l2 |
DIS3-like 3'-5' exoribonuclease 2 |
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ISO ISS |
ClinVar Annotator: match by term: Perlman syndrome OMIM:267000 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:6093533 PMID:9536098 PMID:10508986 PMID:16199547 PMID:16957732 PMID:17576681 PMID:22306653 PMID:23486540 PMID:23576526 PMID:23594738 PMID:23613427 PMID:23756462 PMID:24141620 PMID:25640679 PMID:25670083 PMID:25741868 PMID:25741875 PMID:26689913 PMID:27153395 PMID:27431325 PMID:28328139 PMID:28492532 PMID:29625052 PMID:30344923 PMID:30359267 PMID:31350202 PMID:31942411 PMID:33332384 PMID:33719213 PMID:34130653 PMID:35495172 PMID:36451132 More...
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NCBI chr 9:87,355,409...87,736,616
Ensembl chr 9:87,356,457...87,736,616
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G |
Dnajb3 |
DnaJ heat shock protein family (Hsp40) member B3 |
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ISO |
ClinVar Annotator: match by term: Perlman syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:88,795,542...88,796,555
Ensembl chr 9:88,795,488...88,796,560
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G |
Ecel1 |
endothelin converting enzyme-like 1 |
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ISO |
ClinVar Annotator: match by term: Perlman syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:87,819,516...87,829,154
Ensembl chr 9:87,816,718...87,826,675
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G |
Efhd1 |
EF-hand domain family, member D1 |
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ISO |
ClinVar Annotator: match by term: Perlman syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:87,938,259...87,984,917
Ensembl chr 9:87,938,284...87,984,917
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G |
Eif4e2 |
eukaryotic translation initiation factor 4E family member 2 |
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ISO |
ClinVar Annotator: match by term: Perlman syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:87,886,126...87,914,470
Ensembl chr 9:87,878,085...87,914,482
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G |
Gigyf2 |
GRB10 interacting GYF protein 2 |
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ISO |
ClinVar Annotator: match by term: Perlman syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:88,001,212...88,127,040
Ensembl chr 9:88,001,301...88,125,715
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G |
Gpr55 |
G protein-coupled receptor 55 |
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ISO |
ClinVar Annotator: match by term: Perlman syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:86,584,906...86,640,601
Ensembl chr 9:86,590,885...86,640,613
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G |
Hjurp |
Holliday junction recognition protein |
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ISO |
ClinVar Annotator: match by term: Perlman syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:88,853,379...88,867,730
Ensembl chr 9:88,853,386...88,867,728
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|
G |
Htr2b |
5-hydroxytryptamine receptor 2B |
|
ISO |
ClinVar Annotator: match by term: Perlman syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:86,735,793...86,756,638
Ensembl chr 9:86,742,102...86,755,108
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|
G |
Itm2c |
integral membrane protein 2C |
|
ISO |
ClinVar Annotator: match by term: Perlman syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:86,545,927...86,559,745
Ensembl chr 9:86,545,921...86,559,742
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|
G |
Kcnj13 |
potassium inwardly-rectifying channel, subfamily J, member 13 |
|
ISO |
ClinVar Annotator: match by term: Perlman syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:88,063,003...88,071,112
Ensembl chr 9:88,063,003...88,071,112
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|
G |
Mroh2a |
maestro heat-like repeat family member 2A |
|
ISO |
ClinVar Annotator: match by term: Perlman syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:88,814,515...88,862,346
Ensembl chr 9:88,814,197...88,852,607
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|
G |
Ncl |
nucleolin |
|
ISO |
ClinVar Annotator: match by term: Perlman syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:86,999,588...87,008,112
Ensembl chr 9:86,998,019...87,008,136
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|
G |
Neu2 |
neuraminidase 2 |
|
ISO |
ClinVar Annotator: match by term: Perlman syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:88,218,494...88,267,356
Ensembl chr 9:88,249,135...88,267,355
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|
G |
Ngef |
neuronal guanine nucleotide exchange factor |
|
ISO |
ClinVar Annotator: match by term: Perlman syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:88,146,956...88,244,454
Ensembl chr 9:88,146,956...88,244,914
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|
G |
Nmur1 |
neuromedin U receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Perlman syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:87,033,231...87,038,070
Ensembl chr 9:87,033,279...87,036,684
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|
G |
Nppc |
natriuretic peptide C |
|
ISO |
ClinVar Annotator: match by term: Perlman syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:87,320,051...87,324,251
Ensembl chr 9:87,320,051...87,324,251
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|
G |
Pde6d |
phosphodiesterase 6D |
|
ISO |
ClinVar Annotator: match by term: Perlman syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:87,192,989...87,237,979
Ensembl chr 9:87,192,983...87,237,969
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|
G |
Prss56 |
serine protease 56 |
|
ISO |
ClinVar Annotator: match by term: Perlman syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:87,842,806...87,859,978
Ensembl chr 9:87,854,805...87,859,978
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|
G |
Psmd1 |
proteasome 26S subunit, non-ATPase 1 |
|
ISO |
ClinVar Annotator: match by term: Perlman syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:86,709,714...86,785,213
Ensembl chr 9:86,709,947...86,785,211
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|
G |
Ptma |
prothymosin alpha |
|
ISO |
ClinVar Annotator: match by term: Perlman syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:87,176,251...87,180,333
Ensembl chr 9:87,176,230...87,180,333
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|
G |
Sag |
S-antigen visual arrestin |
|
ISO |
ClinVar Annotator: match by term: Perlman syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:88,467,797...88,508,821
Ensembl chr 9:88,469,376...88,508,820
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|
G |
Snorc |
secondary ossification center associated regulator of chondrocyte maturation |
|
ISO |
ClinVar Annotator: match by term: Perlman syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:88,140,510...88,145,527
Ensembl chr 9:88,140,419...88,145,891
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|
G |
Snord20 |
small nucleolar RNA, C/D box 20 |
|
ISO |
ClinVar Annotator: match by term: Perlman syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:87,001,068...87,001,147
Ensembl chr 9:87,001,068...87,001,147
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|
G |
Snord82 |
small nucleolar RNA, C/D box 82 |
|
ISO |
ClinVar Annotator: match by term: Perlman syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:87,004,515...87,004,586
Ensembl chr 9:87,004,515...87,004,586
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|
G |
Sp100 |
SP100 nuclear antigen |
|
ISO |
ClinVar Annotator: match by term: Perlman syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:86,310,990...86,377,036
Ensembl chr 9:86,311,032...86,377,034
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|
G |
Sp110 |
SP110 nuclear body protein |
|
ISO |
ClinVar Annotator: match by term: Perlman syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:86,200,503...86,225,355
Ensembl chr 9:86,200,503...86,222,670
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|
G |
Sp140 |
SP140 nuclear body protein |
|
ISO |
ClinVar Annotator: match by term: Perlman syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:86,224,472...86,274,724
Ensembl chr 9:86,224,513...86,274,542
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|
G |
Spata3 |
spermatogenesis associated 3 |
|
ISO |
ClinVar Annotator: match by term: Perlman syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:86,660,352...86,672,272
Ensembl chr 9:86,659,784...86,672,272
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|
G |
Spp2 |
secreted phosphoprotein 2 |
|
ISO |
ClinVar Annotator: match by term: Perlman syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:89,006,858...89,026,676
Ensembl chr 9:89,007,175...89,026,688
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|
G |
Tex44 |
testis expressed 44 |
|
ISO |
ClinVar Annotator: match by term: Perlman syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:87,075,684...87,077,102
Ensembl chr 9:87,075,684...87,077,102
|
|
G |
Trpm8 |
transient receptor potential cation channel, subfamily M, member 8 |
|
ISO |
ClinVar Annotator: match by term: Perlman syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:88,897,039...88,990,167
Ensembl chr 9:88,903,880...88,988,552
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|
G |
Ugt1a1 |
UDP glucuronosyltransferase family 1 member A1 |
|
ISO |
ClinVar Annotator: match by term: Perlman syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:88,801,344...88,808,465
Ensembl chr 9:88,713,184...88,808,465
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|
G |
Ugt1a2 |
UDP glucuronosyltransferase 1 family, polypeptide A2 |
|
ISO |
ClinVar Annotator: match by term: Perlman syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:88,791,216...88,808,465
Ensembl chr 9:88,713,184...88,808,465
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|
G |
Ugt1a3 |
UDP glycosyltransferase 1 family, polypeptide A3 |
|
ISO |
ClinVar Annotator: match by term: Perlman syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:88,780,328...88,808,465
Ensembl chr 9:88,713,184...88,808,465
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|
G |
Ugt1a5 |
UDP glucuronosyltransferase family 1 member A5 |
|
ISO |
ClinVar Annotator: match by term: Perlman syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:88,762,250...88,808,465
Ensembl chr 9:88,713,184...88,808,465
|
|
G |
Ugt1a6 |
UDP glucuronosyltransferase family 1 member A6 |
|
ISO |
ClinVar Annotator: match by term: Perlman syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:88,747,213...88,808,465
Ensembl chr 9:88,713,184...88,808,465
|
|
G |
Ugt1a9 |
UDP glucuronosyltransferase family 1 member A9 |
|
ISO |
ClinVar Annotator: match by term: Perlman syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:88,696,981...88,808,465
Ensembl chr 9:88,713,184...88,808,465
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|
G |
Usp40 |
ubiquitin specific peptidase 40 |
|
ISO |
ClinVar Annotator: match by term: Perlman syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:88,607,920...88,678,940
Ensembl chr 9:88,607,930...88,678,914
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|
|
G |
Fosl1 |
FOS like 1, AP-1 transcription factor subunit |
|
IEP |
mRNA:increased expression:kidney |
RGD |
PMID:9405228 |
RGD:2293758 |
NCBI chr 1:202,754,549...202,763,057
Ensembl chr 1:202,754,529...202,764,930
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|
G |
Fosl2 |
FOS like 2, AP-1 transcription factor subunit |
|
IEP |
mRNA:increased expression:kidney |
RGD |
PMID:9405228 |
RGD:2293758 |
NCBI chr 6:24,297,898...24,319,219
Ensembl chr 6:24,300,956...24,320,034
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|
G |
Jun |
Jun proto-oncogene, AP-1 transcription factor subunit |
|
IEP |
mRNA:increased expression:kidney |
RGD |
PMID:9405228 |
RGD:2293758 |
NCBI chr 5:109,894,175...109,897,268
Ensembl chr 5:109,893,145...109,897,656
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|
G |
Junb |
JunB proto-oncogene, AP-1 transcription factor subunit |
|
IEP |
mRNA:increased expression:kidney |
RGD |
PMID:9405228 |
RGD:2293758 |
NCBI chr19:23,176,265...23,178,049
Ensembl chr19:23,176,294...23,178,035
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|
G |
Jund |
JunD proto-oncogene, AP-1 transcription factor subunit |
|
IEP |
mRNA:increased expression:kidney |
RGD |
PMID:9405228 |
RGD:2293758 |
NCBI chr16:18,734,121...18,735,799
Ensembl chr16:18,734,122...18,735,799
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|
G |
Letmd1 |
LETM1 domain containing 1 |
|
ISO |
mRNA, protein:increased expression:kidney |
RGD |
PMID:12879013 |
RGD:2314918 |
NCBI chr 7:131,584,241...131,597,797
Ensembl chr 7:131,584,259...131,597,796
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|
G |
Mcph1 |
microcephalin 1 |
|
ISO |
protein:decreased expression:kidney (human) |
RGD |
PMID:25197360 |
RGD:9589037 |
NCBI chr16:71,021,855...71,224,067
Ensembl chr16:71,024,588...71,224,122
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|
G |
Met |
MET proto-oncogene, receptor tyrosine kinase |
|
ISO |
ClinVar Annotator: match by term: Renal carcinoma |
ClinVar |
PMID:9024657 PMID:9140397 PMID:9326629 PMID:9563489 PMID:9731534 PMID:9826708 PMID:10327054 PMID:10433944 PMID:10498872 PMID:11354004 PMID:11750879 PMID:15485908 PMID:17483355 PMID:18829470 PMID:21400509 PMID:21642981 PMID:23213094 PMID:23610116 PMID:24121490 PMID:25157968 PMID:25741868 PMID:28492532 PMID:29202410 PMID:34882875 More...
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|
NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876
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|
G |
Mtor |
mechanistic target of rapamycin kinase |
|
ISO |
ClinVar Annotator: match by term: Renal carcinoma |
ClinVar |
PMID:17360675 PMID:20190810 PMID:24622468 PMID:24631838 PMID:26018084 PMID:26619011 PMID:27159400 PMID:27482884 PMID:27830187 PMID:29281825 More...
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|
NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311
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|
|
G |
Abcb1a |
ATP binding cassette subfamily B member 1A |
disease_progression |
ISO |
DNA:polymorphism: :3435C>T (human) |
RGD |
PMID:17177989 PMID:12089380 |
RGD:2315557, RGD:2315559 |
NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709
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|
G |
Abcg2 |
ATP binding cassette subfamily G member 2 |
susceptibility |
ISO |
DNA:polymorphism: :p.Q141K (human) |
RGD |
PMID:15906349 |
RGD:2315569 |
NCBI chr 4:87,676,241...87,802,757
Ensembl chr 4:87,745,319...87,802,409
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|
G |
Ache |
acetylcholinesterase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18482720 |
|
NCBI chr12:19,406,133...19,413,713
Ensembl chr12:19,407,360...19,413,651
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|
G |
Acy1 |
aminoacylase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15108329 |
|
NCBI chr 8:107,072,354...107,077,756
Ensembl chr 8:107,072,358...107,077,682
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|
G |
Adgrb1 |
adhesion G protein-coupled receptor B1 |
severity |
ISO |
|
RGD |
PMID:21511296 |
RGD:13831349 |
NCBI chr 7:106,404,827...106,476,902
Ensembl chr 7:106,404,958...106,476,902
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|
G |
Adipoq |
adiponectin, C1Q and collagen domain containing |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29723618 |
|
NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
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|
G |
Afp |
alpha-fetoprotein |
|
ISO |
|
RGD |
PMID:1714107 |
RGD:2292042 |
NCBI chr14:17,573,412...17,591,476
Ensembl chr14:17,573,412...17,591,480
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|
G |
Agtr1a |
angiotensin II receptor, type 1a |
severity |
ISO |
protein:increased expression:kidney |
RGD |
PMID:21102591 |
RGD:6903280 |
NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946
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|
G |
Agtr2 |
angiotensin II receptor, type 2 |
disease_progression |
ISO |
protein:increased expression:kidney |
RGD |
PMID:21102591 |
RGD:6903280 |
NCBI chr X:112,119,876...112,124,060
Ensembl chr X:112,120,228...112,124,057
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G |
Ahnak |
AHNAK nucleoprotein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22138691 |
|
NCBI chr 1:205,882,225...205,970,934
Ensembl chr 1:205,882,273...205,970,926
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|
G |
Akap13 |
A-kinase anchoring protein 13 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22138691 |
|
NCBI chr 1:129,313,183...129,619,647
Ensembl chr 1:129,314,402...129,619,646
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G |
Akt1 |
AKT serine/threonine kinase 1 |
|
ISO |
protein:increased serine phosphorylation:kidney |
RGD |
PMID:17681738 |
RGD:1643331 |
NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921
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|
G |
Akt3 |
AKT serine/threonine kinase 3 |
susceptibility |
ISO |
DNA:missense mutation:exon, intron:multiple |
RGD |
PMID:23378641 |
RGD:13503319 |
NCBI chr13:88,943,708...89,225,831
Ensembl chr13:88,946,091...89,225,708
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G |
Alad |
aminolevulinate dehydratase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21799727 |
|
NCBI chr 5:75,961,993...75,972,334
Ensembl chr 5:75,961,993...75,972,474
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|
G |
Aldh1a1 |
aldehyde dehydrogenase 1 family, member A1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15108329 |
|
NCBI chr 1:218,000,470...218,152,962
Ensembl chr 1:218,042,127...218,152,961
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G |
Alk |
ALK receptor tyrosine kinase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22743654 |
|
NCBI chr 6:22,879,653...23,599,636
Ensembl chr 6:22,880,625...23,598,034
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|
G |
Alox12 |
arachidonate 12-lipoxygenase, 12S type |
|
ISO |
protein:increased expression:kidney |
RGD |
PMID:14654968 |
RGD:2315610 |
NCBI chr10:54,958,263...54,970,542
Ensembl chr10:54,958,271...54,970,542
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|
G |
Alox12b |
arachidonate 12-lipoxygenase, 12R type |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30258081 |
|
NCBI chr10:53,863,060...53,874,938
Ensembl chr10:53,863,060...53,874,938
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|
G |
Alox5 |
arachidonate 5-lipoxygenase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30258081 |
|
NCBI chr 4:149,531,329...149,578,696
Ensembl chr 4:149,531,515...149,578,743
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G |
Amacr |
alpha-methylacyl-CoA racemase |
|
ISO |
|
RGD |
PMID:14707866 |
RGD:2315633 |
NCBI chr 2:59,946,158...59,958,255
Ensembl chr 2:59,946,153...59,958,255
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G |
Ang |
angiogenin |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:18808740 |
RGD:2325699 |
NCBI chr15:24,312,711...24,323,361
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G |
Angpt1 |
angiopoietin 1 |
severity |
ISO |
mRNA:altered expression:kidney |
RGD |
PMID:17505508 |
RGD:1643335 |
NCBI chr 7:73,528,345...73,783,953
Ensembl chr 7:73,531,486...73,784,067
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G |
Anxa1 |
annexin A1 |
|
IEP |
|
RGD |
PMID:14587099 |
RGD:7421570 |
NCBI chr 1:217,861,175...217,877,205
Ensembl chr 1:217,861,175...217,877,343
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G |
Anxa2 |
annexin A2 |
|
IEP |
|
RGD |
PMID:14587099 |
RGD:7421570 |
NCBI chr 8:70,105,268...70,141,663
Ensembl chr 8:70,105,253...70,141,658
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G |
Anxa4 |
annexin A4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15108329 |
|
NCBI chr 4:119,184,378...119,241,183
Ensembl chr 4:119,184,374...119,241,161
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G |
Ap5m1 |
adaptor related protein complex 5 subunit mu 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23797736 |
|
NCBI chr15:22,355,478...22,385,222
Ensembl chr15:22,355,500...22,377,750
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G |
Apaf1 |
apoptotic peptidase activating factor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17133271 |
|
NCBI chr 7:25,494,143...25,579,540
Ensembl chr 7:25,494,609...25,579,540
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|
G |
Apc |
APC regulator of WNT signaling pathway |
onset disease_progression severity |
ISO |
DNA,protein:LOH,decreased expression: : DNA:LOH: : |
RGD |
PMID:16116480 PMID:10426194 PMID:15203750 |
RGD:7242056, RGD:7242060, RGD:7242059 |
NCBI chr18:25,828,558...25,925,511
Ensembl chr18:25,864,222...25,922,696
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G |
Aprt |
adenine phosphoribosyl transferase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15108329 |
|
NCBI chr19:50,626,201...50,628,491
Ensembl chr19:50,626,202...50,628,431
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G |
Arnt |
aryl hydrocarbon receptor nuclear translocator |
treatment |
ISO |
DNA:missense mutation: :pF446L (human) |
RGD |
PMID:27595394 |
RGD:13503335 |
NCBI chr 2:182,997,731...183,056,584
Ensembl chr 2:182,997,736...183,056,580
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|
G |
Asb15 |
ankyrin repeat and SOCS box containing 15 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22138691 |
|
NCBI chr 4:53,021,553...53,050,846
Ensembl chr 4:53,031,692...53,049,928
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G |
Asz1 |
ankyrin repeat, SAM and basic leucine zipper domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Renal adenocarcinoma | ClinVar Annotator: match by term: Renal cell carcinoma | ClinVar Annotator: match by term: Renal cell carcinoma, somatic |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:46,400,485...46,456,085
Ensembl chr 4:46,400,485...46,456,085
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|
G |
Atm |
ATM serine/threonine kinase |
|
ISO |
ClinVar Annotator: match by term: Renal adenocarcinoma |
ClinVar |
PMID:10571946 |
|
NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
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|
G |
Atp5mc2 |
ATP synthase membrane subunit c locus 2 |
|
ISO |
DNA:hypermethylation:promoter |
RGD |
PMID:21132003 |
RGD:14696812 |
NCBI chr 7:133,791,341...133,799,713
Ensembl chr 7:133,791,342...133,799,733
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G |
Aurka |
aurora kinase A |
|
ISO |
mRNA, protein:increased expression:kidney |
RGD |
PMID:17349527 |
RGD:1643346 |
NCBI chr 3:161,128,309...161,144,524
Ensembl chr 3:161,128,313...161,144,390
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G |
Bad |
BCL2-associated agonist of cell death |
|
ISO |
|
RGD |
PMID:15851405 |
RGD:2292677 |
NCBI chr 1:204,133,502...204,142,829
Ensembl chr 1:204,131,501...204,142,823
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G |
Bak1 |
BCL2-antagonist/killer 1 |
severity |
ISO |
|
RGD |
PMID:9894249 |
RGD:2315703 |
NCBI chr20:5,100,480...5,109,669
Ensembl chr20:5,100,480...5,109,264
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G |
Bap1 |
BRCA1 associated deubiquitinase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22138691 PMID:22683710 PMID:23797736 PMID:25231345 |
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NCBI chr16:6,446,709...6,455,535
Ensembl chr16:6,446,709...6,455,535
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G |
Bche |
butyrylcholinesterase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18482720 |
|
NCBI chr 2:158,308,674...158,401,148
Ensembl chr 2:158,307,584...158,401,148
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G |
Bcl2 |
BCL2, apoptosis regulator |
disease_progression |
ISO |
|
RGD |
PMID:17482919 PMID:18283311 |
RGD:2293019, RGD:2298896 |
NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
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G |
Bcl2l1 |
Bcl2-like 1 |
|
ISO |
|
RGD |
PMID:12025227 |
RGD:1643483 |
NCBI chr 3:141,253,508...141,304,582
Ensembl chr 3:141,253,523...141,303,479
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G |
Bik |
BCL2-interacting killer |
|
ISO |
protein:decreased expression:kidney |
RGD |
PMID:16322756 |
RGD:14394818 |
NCBI chr 7:114,672,277...114,691,296
Ensembl chr 7:114,672,277...114,691,296
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|
G |
Birc2 |
baculoviral IAP repeat-containing 2 |
disease_progression |
ISO |
mRNA:altered expression:kidney |
RGD |
PMID:17154176 |
RGD:1643526 |
NCBI chr 8:4,968,856...4,989,325
Ensembl chr 8:4,968,842...4,988,732
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G |
Birc3 |
baculoviral IAP repeat-containing 3 |
|
ISO |
mRNA:altered expression:kidney |
RGD |
PMID:17154176 |
RGD:1643526 |
NCBI chr 8:5,000,844...5,028,470
Ensembl chr 8:5,000,845...5,015,802
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|
G |
Birc5 |
baculoviral IAP repeat-containing 5 |
disease_progression |
ISO |
mRNA:splice variant CTD Direct Evidence: therapeutic protein:increased expression:kidney |
CTD RGD |
PMID:16188142 PMID:12115583 PMID:17363528 |
RGD:2293108, RGD:2293102 |
NCBI chr10:103,072,530...103,081,382
Ensembl chr10:103,073,408...103,081,380
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G |
Birc7 |
baculoviral IAP repeat-containing 7 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17437058 PMID:25401301 |
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NCBI chr 3:168,047,824...168,052,606
Ensembl chr 3:168,047,824...168,052,606
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G |
Bmp4 |
bone morphogenetic protein 4 |
severity |
ISO |
|
RGD |
PMID:17644140 |
RGD:1643589 |
NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306
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G |
Bmp6 |
bone morphogenetic protein 6 |
|
ISO |
mRNA,protein:increased expression:kidney |
RGD |
PMID:20016212 |
RGD:7242419 |
NCBI chr17:26,318,121...26,469,691
Ensembl chr17:26,318,569...26,470,365
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G |
Bmp7 |
bone morphogenetic protein 7 |
disease_progression |
ISO |
|
RGD |
PMID:17644140 |
RGD:1643589 |
NCBI chr 3:161,639,915...161,716,938
Ensembl chr 3:161,516,462...161,716,788
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G |
Bsg |
basigin |
disease_progression |
ISO |
protein:increased expression:kidney CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:36574092 PMID:17021824 |
RGD:2289052 |
NCBI chr 7:9,993,170...10,000,387
Ensembl chr 7:9,993,170...10,000,387
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G |
Btg2 |
BTG anti-proliferation factor 2 |
|
ISO |
mRNA:decreased expression:kidney |
RGD |
PMID:14996721 |
RGD:2289069 |
NCBI chr13:45,531,881...45,535,642
Ensembl chr13:45,531,925...45,535,628
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G |
Btg3 |
BTG anti-proliferation factor 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19221000 |
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NCBI chr11:17,030,156...17,046,069
Ensembl chr11:17,030,160...17,046,170
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G |
C4a |
complement C4A |
disease_progression |
ISO |
|
RGD |
PMID:19150565 |
RGD:5688259 |
NCBI chr20:4,005,731...4,020,083
Ensembl chr20:4,005,731...4,020,080
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G |
C4b |
complement C4B |
disease_progression |
ISO |
|
RGD |
PMID:19150565 |
RGD:5688259 |
NCBI chr20:4,197,371...4,211,684
Ensembl chr20:4,197,366...4,211,681
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G |
C8h11orf65 |
similar to human chromosome 11 open reading frame 65 |
|
ISO |
ClinVar Annotator: match by term: Renal adenocarcinoma |
ClinVar |
PMID:10571946 |
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NCBI chr 8:53,796,033...53,825,277
Ensembl chr 8:53,796,366...53,824,748
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G |
Cad |
carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase |
|
IEP |
|
RGD |
PMID:7053379 |
RGD:10755426 |
NCBI chr 6:25,292,133...25,315,078
Ensembl chr 6:25,292,133...25,319,861
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G |
Capg |
capping actin protein, gelsolin like |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15108329 |
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NCBI chr 4:104,594,743...104,611,856
Ensembl chr 4:104,594,753...104,611,856
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G |
Capza2 |
capping actin protein of muscle Z-line subunit alpha 2 |
|
ISO |
ClinVar Annotator: match by term: Renal adenocarcinoma | ClinVar Annotator: match by term: Renal cell carcinoma | ClinVar Annotator: match by term: Renal cell carcinoma, somatic |
ClinVar |
PMID:28492532 |
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NCBI chr 4:45,978,142...46,014,032
Ensembl chr 4:45,977,807...46,013,864
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G |
Car9 |
carbonic anhydrase 9 |
disease_progression |
ISO |
DNA, mRNA:hypomethylation, increased expression:promoter, kidney protein:increased expression:serum, urine |
RGD |
PMID:11506497 PMID:12966427 PMID:18464292 PMID:12883698 |
RGD:2293201, RGD:2293198, RGD:2293191, RGD:2293199 |
NCBI chr 5:57,763,234...57,769,838
Ensembl chr 5:57,763,206...57,769,838
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G |
Card11 |
caspase recruitment domain family, member 11 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22138691 |
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NCBI chr12:13,621,140...13,758,115
Ensembl chr12:13,621,087...13,758,112
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G |
Casp2 |
caspase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20208132 |
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NCBI chr 4:71,149,632...71,167,388
Ensembl chr 4:71,149,669...71,167,379
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G |
Casp3 |
caspase 3 |
|
ISO |
|
RGD |
PMID:17513560 |
RGD:2293308 |
NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648
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G |
Cav1 |
caveolin 1 |
disease_progression |
ISO |
protein:increased expression:kidney ClinVar Annotator: match by term: Renal cell carcinoma |
ClinVar RGD |
PMID:28492532 PMID:15247769 |
RGD:2289107 |
NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705
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G |
Ccnb1 |
cyclin B1 |
disease_progression |
ISO |
protein:increased expression:kidney |
RGD |
PMID:16557593 |
RGD:2315941 |
NCBI chr 2:31,912,190...31,921,163
Ensembl chr 2:31,912,193...31,921,172
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G |
Ccnd1 |
cyclin D1 |
|
ISO |
DNA:polymorphism |
RGD |
PMID:15538282 PMID:17924468 |
RGD:2289130, RGD:2289127 |
NCBI chr 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602
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G |
Ccnd3 |
cyclin D3 |
disease_progression |
ISO |
|
RGD |
PMID:18679818 |
RGD:2316007 |
NCBI chr 9:13,394,161...13,400,341
Ensembl chr 9:13,394,169...13,489,371
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G |
Ccne1 |
cyclin E1 |
|
ISO |
mRNA, protein:increased expression:kidney |
RGD |
PMID:17726548 |
RGD:2289228 |
NCBI chr 1:90,781,947...90,791,188
Ensembl chr 1:90,781,949...90,791,101
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G |
Cd40 |
CD40 molecule |
treatment |
ISO |
|
RGD |
PMID:15282531 PMID:12594303 PMID:20426873 |
RGD:7248440, RGD:11522744, RGD:7248724 |
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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G |
Cd44 |
CD44 molecule |
disease_progression severity |
ISO |
protein:increased expression:kidney |
RGD |
PMID:12833185 PMID:17284111 |
RGD:2289360, RGD:2289351 |
NCBI chr 3:89,155,850...89,244,615
Ensembl chr 3:89,157,058...89,244,620
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G |
Cd46 |
CD46 molecule |
|
ISO |
|
RGD |
PMID:10744069 |
RGD:2293550 |
NCBI chr13:106,575,586...106,606,325
Ensembl chr13:106,574,858...106,660,445
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G |
Cdc14b |
cell division cycle 14B |
severity |
ISO |
mRNA:decreased expression:kidney: |
RGD |
PMID:24619757 |
RGD:10059341 |
NCBI chr17:844,686...934,787
Ensembl chr17:844,685...933,235
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G |
Cdh1 |
cadherin 1 |
disease_progression onset |
ISO |
protein:decreased expression, altered localization:kidney, nucleus DNA:LOH: : |
RGD |
PMID:17906660 PMID:15203750 |
RGD:2289489, RGD:7242059 |
NCBI chr19:34,492,371...34,561,775
Ensembl chr19:34,492,371...34,561,775
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G |
Cdk2 |
cyclin dependent kinase 2 |
|
ISO |
|
RGD |
PMID:16740772 |
RGD:2293561 |
NCBI chr 7:1,129,878...1,137,431
Ensembl chr 7:1,129,811...1,137,403
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G |
Cdk4 |
cyclin-dependent kinase 4 |
|
ISO |
protein:increased expression:kidney |
RGD |
PMID:15991006 |
RGD:2293579 |
NCBI chr 7:62,886,124...62,889,562
Ensembl chr 7:62,883,105...62,942,403
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|
G |
Cdkn1b |
cyclin-dependent kinase inhibitor 1B |
disease_progression |
ISO |
protein:decreased expression:kidney mRNA, protein:increased expression:kidney |
RGD |
PMID:17924468 PMID:18425369 PMID:18495610 |
RGD:2289127, RGD:2293590, RGD:2293589 |
NCBI chr 4:167,760,067...167,765,177
Ensembl chr 4:167,760,181...167,764,982
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G |
Cdkn2a |
cyclin-dependent kinase inhibitor 2A |
|
IAGP ISO |
DNA:gene instability DNA:deletion DNA, protein:hypermethylation, increased expression:promoter, kidney |
RGD |
PMID:11839561 PMID:17201148 PMID:15232742 |
RGD:1298747, RGD:2289680, RGD:2289699 |
NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149
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G |
Cdkn2a_v1 |
cyclin-dependent kinase inhibitor 2A, variant 1 |
|
ISO |
DNA:deletion DNA:hypermethylation:promoter |
RGD |
PMID:17201148 PMID:15232742 |
RGD:2289680, RGD:2289699 |
|
|
G |
Cdkn2a_v2 |
cyclin-dependent kinase inhibitor 2A, variant 2 |
|
ISO |
DNA, protein:hypermethylation, increased expression:promoter, kidney DNA:deletion |
RGD |
PMID:15232742 PMID:17201148 |
RGD:2289699, RGD:2289680 |
|
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G |
Cdkn2b |
cyclin-dependent kinase inhibitor 2B |
|
IAGP |
DNA:loss of heterozygosity, deletion |
RGD |
PMID:10391689 |
RGD:7248758 |
NCBI chr 5:104,009,839...104,019,082
Ensembl chr 5:104,010,680...104,019,050
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|
G |
Cftr |
CF transmembrane conductance regulator |
|
ISO |
ClinVar Annotator: match by term: Renal adenocarcinoma | ClinVar Annotator: match by term: Renal cell carcinoma | ClinVar Annotator: match by term: Renal cell carcinoma, somatic |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756
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G |
Cnn2 |
calponin 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15108329 |
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NCBI chr 7:9,712,505...9,719,678
Ensembl chr 7:9,712,516...9,719,656
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G |
Comt |
catechol-O-methyltransferase |
susceptibility |
ISO |
DNA:polymorphism:exon |
RGD |
PMID:17220335 |
RGD:2289716 |
NCBI chr11:82,568,052...82,587,642
Ensembl chr11:82,568,025...82,587,642
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G |
Cpq |
carboxypeptidase Q |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25401301 |
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NCBI chr 7:64,264,025...64,830,867
Ensembl chr 7:64,264,081...64,724,546
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G |
Crabp1 |
cellular retinoic acid binding protein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16254461 |
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NCBI chr 8:55,138,363...55,159,360
Ensembl chr 8:55,151,285...55,159,360
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G |
Cradd |
CASP2 and RIPK1 domain containing adaptor with death domain |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20208132 |
|
NCBI chr 7:29,940,240...29,952,907
Ensembl chr 7:29,798,586...29,952,907
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G |
Crp |
C-reactive protein |
disease_progression |
ISO |
|
RGD |
PMID:22958305 |
RGD:6904212 |
NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
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G |
Cryab |
crystallin, alpha B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15108329 |
|
NCBI chr 8:51,093,441...51,099,161
Ensembl chr 8:51,093,441...51,099,157
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G |
Csf1r |
colony stimulating factor 1 receptor |
treatment |
ISO |
mRNA:increased expression:kidney mouse cell line in a mouse model |
RGD |
PMID:18592004 PMID:32302573 PMID:22052465 |
RGD:2299092, RGD:150524293, RGD:7257566 |
NCBI chr18:54,546,673...54,590,418
Ensembl chr18:54,546,659...54,590,415
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G |
Csmd3 |
CUB and Sushi multiple domains 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22138691 PMID:23797736 |
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NCBI chr 7:78,747,322...80,066,466
Ensembl chr 7:78,748,480...80,066,369
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G |
Ctla4 |
cytotoxic T-lymphocyte-associated protein 4 |
|
ISO |
DNA:SNPs:exons:rs3087243, rs231775 (human) |
RGD |
PMID:17678726 |
RGD:7204723 |
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
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G |
Ctnna1 |
catenin alpha 1 |
disease_progression |
ISO |
protein:decreased expression:kidney |
RGD |
PMID:9355975 |
RGD:2289799 |
NCBI chr18:26,728,246...26,860,911
Ensembl chr18:26,728,485...26,860,910
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|
G |
Ctnnb1 |
catenin beta 1 |
disease_progression |
ISO |
protein:increased expression:kidney ClinVar Annotator: match by term: Renal adenocarcinoma |
ClinVar RGD |
PMID:26822237 PMID:11831984 PMID:15330191 |
RGD:2289835, RGD:2289794 |
NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111
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G |
Ctsb |
cathepsin B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15108329 |
|
NCBI chr15:37,389,636...37,410,508
Ensembl chr15:37,389,629...37,410,500
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|
G |
Ctsd |
cathepsin D |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15108329 |
|
NCBI chr 1:197,527,467...197,539,343
Ensembl chr 1:197,527,467...197,539,488
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|
G |
Cul7 |
cullin 7 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22138691 |
|
NCBI chr 9:14,319,102...14,333,035
Ensembl chr 9:14,319,108...14,332,741
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|
G |
Cxcr2 |
C-X-C motif chemokine receptor 2 |
|
ISO |
|
RGD |
PMID:16210641 |
RGD:7257682 |
NCBI chr 9:75,729,493...75,735,868
Ensembl chr 9:75,729,115...75,739,425
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G |
Cyp1a1 |
cytochrome P450, family 1, subfamily a, polypeptide 1 |
no_association |
ISO IEP |
DNA:polymorphism: :p.I462V (human) DNA:SNPs: :6235T>C, 4889A>G, 4887C>A (human) |
RGD |
PMID:22296350 PMID:11115552 PMID:9631944 PMID:22000673 |
RGD:7257729, RGD:7296938, RGD:7296939, RGD:7296937 |
NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
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|
G |
Dapk1 |
death associated protein kinase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17133271 |
|
NCBI chr17:3,930,223...4,090,991
Ensembl chr17:3,930,213...4,090,991
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|
G |
Dll4 |
delta like canonical Notch ligand 4 |
treatment |
ISO |
|
RGD |
PMID:25618828 |
RGD:155663382 |
NCBI chr 3:106,317,114...106,327,004
Ensembl chr 3:106,316,986...106,326,931
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|
G |
Dnhd1 |
dynein heavy chain domain 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23797736 |
|
NCBI chr 1:159,990,785...160,077,990
Ensembl chr 1:159,990,438...160,074,858
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|
G |
Ebag9 |
estrogen receptor binding site associated antigen 9 |
disease_progression |
ISO |
|
RGD |
PMID:15867365 |
RGD:2289852 |
NCBI chr 7:75,810,950...75,828,902
Ensembl chr 7:75,810,594...75,861,248
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|
G |
Eef2 |
eukaryotic translation elongation factor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15108329 |
|
NCBI chr 7:8,533,248...8,538,518
Ensembl chr 7:8,533,116...8,559,183
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|
G |
Egfr |
epidermal growth factor receptor |
|
ISO |
protein:increased expression:tumor |
RGD |
PMID:18467719 |
RGD:2293730 |
NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382
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|
G |
Egln1 |
egl-9 family hypoxia-inducible factor 1 |
|
ISO |
protein:increased expression:kidney |
RGD |
PMID:20978146 |
RGD:13504705 |
NCBI chr19:52,867,900...52,907,308
Ensembl chr19:52,869,486...52,907,777
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|
G |
Egln2 |
egl-9 family hypoxia-inducible factor 2 |
|
ISO |
protein:increased expression:kidney |
RGD |
PMID:20978146 |
RGD:13504705 |
NCBI chr 1:82,451,554...82,459,809
Ensembl chr 1:82,451,555...82,459,751
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|
G |
Egln3 |
egl-9 family hypoxia-inducible factor 3 |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:20676679 |
RGD:13506732 |
NCBI chr 6:71,650,297...71,675,766
Ensembl chr 6:71,650,297...71,675,766
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G |
Eloc |
elongin C |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Renal adenocarcinoma |
CTD ClinVar |
PMID:23797736 PMID:26619011 |
|
NCBI chr 5:2,661,527...2,677,893
Ensembl chr 5:2,661,724...2,677,890
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|
G |
Epas1 |
endothelial PAS domain protein 1 |
|
IEP ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:21131975 PMID:12750296 |
RGD:10395373 |
NCBI chr 6:7,790,236...7,871,717
Ensembl chr 6:7,790,647...7,871,228
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G |
Erbb2 |
erb-b2 receptor tyrosine kinase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism mRNA:decreased expression:kidney |
CTD RGD |
PMID:10897039 PMID:17296437 PMID:15360049 |
RGD:2289930, RGD:2289987 |
NCBI chr10:83,411,197...83,435,078
Ensembl chr10:83,411,313...83,435,078
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G |
Erbb4 |
erb-b2 receptor tyrosine kinase 4 |
|
ISO |
mRNA, protein:decreased expression:kidney |
RGD |
PMID:15360049 |
RGD:2289987 |
NCBI chr 9:69,523,733...70,596,743
Ensembl chr 9:69,531,481...70,596,595
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G |
Fas |
Fas cell surface death receptor |
|
ISO |
DNA:missense mutations:exon protein:increased expression:serum |
RGD |
PMID:11435457 PMID:12460460 PMID:10654915 PMID:17031406 |
RGD:2290132, RGD:2290131, RGD:2290133, RGD:2290099 |
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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G |
Faslg |
Fas ligand |
|
ISO |
|
RGD |
PMID:17641033 PMID:11435457 |
RGD:2290051, RGD:2290132 |
NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
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G |
Fgf2 |
fibroblast growth factor 2 |
disease_progression |
ISO |
protein:increased expression:serum |
RGD |
PMID:1718278 |
RGD:2290303 |
NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221
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G |
Fgfr1 |
Fibroblast growth factor receptor 1 |
disease_progression |
ISO |
|
RGD |
PMID:25900027 |
RGD:11352663 |
NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350
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G |
Fh |
fumarate hydratase |
|
ISO |
|
RGD |
PMID:17211469 |
RGD:6907135 |
NCBI chr13:87,524,331...87,550,215
Ensembl chr13:87,524,337...87,550,266
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G |
Fhit |
fragile histidine triad diadenosine triphosphatase |
|
ISO |
|
RGD |
PMID:10530564 PMID:17539022 |
RGD:2289903, RGD:2289870 |
NCBI chr15:13,935,029...15,442,620
Ensembl chr15:13,934,995...15,442,340
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G |
Flcn |
folliculin |
treatment |
IAGP IMP ISO |
CTD Direct Evidence: marker/mechanism |
CTD OMIM RGD |
PMID:12204536 PMID:14769940 PMID:16369488 |
RGD:1302869, RGD:13605606 |
NCBI chr10:44,588,621...44,607,808
Ensembl chr10:44,588,624...44,607,769
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G |
Flt1 |
Fms related receptor tyrosine kinase 1 |
|
ISO |
CTD Direct Evidence: therapeutic protein:increased expression:kidney, blood, myeloid cell |
CTD RGD |
PMID:16596207 PMID:11846206 PMID:18566400 |
RGD:2289960, RGD:2301250 |
NCBI chr12:7,296,899...7,468,626
Ensembl chr12:7,297,292...7,468,626
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G |
Fmn2 |
formin 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22138691 |
|
NCBI chr13:86,454,256...86,771,437
Ensembl chr13:86,453,926...86,771,411
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G |
Fn1 |
fibronectin 1 |
severity |
ISO |
|
RGD |
PMID:20860816 |
RGD:7205637 |
NCBI chr 9:73,196,044...73,264,695
Ensembl chr 9:73,196,044...73,264,678
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G |
Fpgt |
fucose-1-phosphate guanylyltransferase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23797736 |
|
NCBI chr 2:244,099,031...244,119,967
Ensembl chr 2:244,099,076...244,119,899
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G |
Frs2 |
fibroblast growth factor receptor substrate 2 |
disease_progression |
ISO |
|
RGD |
PMID:25900027 |
RGD:11352663 |
NCBI chr 7:52,711,255...52,792,738
Ensembl chr 7:52,711,257...52,792,743
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G |
Fto |
FTO, alpha-ketoglutarate dependent dioxygenase |
treatment |
ISO |
|
RGD |
PMID:30648791 |
RGD:329812005 |
NCBI chr19:15,284,898...15,692,142
Ensembl chr19:15,349,696...15,692,083
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G |
Ghrh |
growth hormone releasing hormone |
|
ISO |
|
RGD |
PMID:10962030 |
RGD:2301426 |
NCBI chr 3:145,992,762...146,012,528
Ensembl chr 3:145,992,763...146,011,889
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G |
Gjb1 |
gap junction protein, beta 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18264126 |
|
NCBI chr X:66,501,848...66,509,783
Ensembl chr X:66,501,820...66,509,925
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G |
Grb7 |
growth factor receptor bound protein 7 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23797736 |
|
NCBI chr10:83,443,387...83,453,057
Ensembl chr10:83,444,004...83,453,052
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G |
Gsr |
glutathione-disulfide reductase |
|
ISO |
protein:decreased expression:kidney: |
RGD |
PMID:18312938 |
RGD:7257550 |
NCBI chr16:58,482,209...58,525,256
Ensembl chr16:58,482,505...58,525,661
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G |
Gstm1 |
glutathione S-transferase mu 1 |
susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:18566013 PMID:26656529 PMID:14504370 |
RGD:2293845 |
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
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G |
Gstp1 |
glutathione S-transferase pi 1 |
|
ISO |
protein:increased expression:kidney CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:15108329 PMID:20464042 |
RGD:8547946 |
NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
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G |
Gstt1 |
glutathione S-transferase theta 1 |
susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:18566013 PMID:26656529 PMID:14504370 |
RGD:2293845 |
NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
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G |
Hars1 |
histidyl-tRNA synthetase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15108329 |
|
NCBI chr18:28,381,649...28,398,699
Ensembl chr18:28,381,655...28,398,740
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G |
Havcr1 |
hepatitis A virus cellular receptor 1 |
disease_progression |
ISO |
|
RGD |
PMID:23352434 |
RGD:7245470 |
NCBI chr10:31,118,667...31,151,730
Ensembl chr10:31,119,088...31,151,698
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G |
Havcr2 |
hepatitis A virus cellular receptor 2 |
susceptibility |
ISO |
DNA:polymorphisms: :-574G>T, +4259T>G (human) |
RGD |
PMID:22472081 |
RGD:7245505 |
NCBI chr10:30,882,484...30,914,018
Ensembl chr10:30,882,606...30,909,137
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G |
Hif1a |
hypoxia inducible factor 1 subunit alpha |
disease_progression |
ISO |
|
RGD |
PMID:19302703 |
RGD:2306222 |
NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261
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G |
Hnf1a |
HNF1 homeobox A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
OMIM CTD |
|
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NCBI chr12:41,638,536...41,672,806
Ensembl chr12:41,645,587...41,672,104
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G |
Hnf1b |
HNF1 homeobox B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
OMIM CTD |
|
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NCBI chr10:68,735,894...68,789,888
Ensembl chr10:68,735,894...68,789,888
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G |
Hoxb13 |
homeo box B13 |
disease_progression |
ISO |
DNA:hypermethylation |
RGD |
PMID:16278676 |
RGD:2314729 |
NCBI chr10:81,160,498...81,162,777
Ensembl chr10:81,160,498...81,162,777
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G |
Hspa9 |
heat shock protein family A (Hsp70) member 9 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15108329 |
|
NCBI chr18:26,536,131...26,554,294
Ensembl chr18:26,535,798...26,554,292
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G |
Hspb1 |
heat shock protein family B (small) member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15108329 |
|
NCBI chr12:20,794,014...20,795,675
Ensembl chr12:20,794,028...20,795,743
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G |
Hspd1 |
heat shock protein family D (Hsp60) member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15108329 |
|
NCBI chr 9:56,579,195...56,590,011
Ensembl chr 9:56,579,201...56,589,662
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G |
Igf1r |
insulin-like growth factor 1 receptor |
|
IEP |
|
RGD |
PMID:17952403 |
RGD:7242846 |
NCBI chr 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777
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G |
Igfbp3 |
insulin-like growth factor binding protein 3 |
|
ISO |
|
RGD |
PMID:18076934 |
RGD:2290003 |
NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083
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G |
Igfbp7 |
insulin-like growth factor binding protein 7 |
|
IEP |
mRNA:decreased expression:kidney |
RGD |
PMID:10854235 |
RGD:1626565 |
NCBI chr14:30,737,414...30,797,317
Ensembl chr14:30,737,164...30,797,314
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G |
Il13 |
interleukin 13 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22317767 |
|
NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
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G |
Il1rn |
interleukin 1 receptor antagonist |
|
ISO |
|
RGD |
PMID:17031403 |
RGD:6907413 |
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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G |
Il2 |
interleukin 2 |
|
ISO |
|
RGD |
PMID:21812652 |
RGD:5147871 |
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
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G |
Il4r |
interleukin 4 receptor |
susceptibility disease_progression |
ISO |
DNA:polymorphism:cds:p.I50V (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:22317767 PMID:30472377 PMID:22317767 PMID:12171893 |
RGD:7207066, RGD:7207070 |
NCBI chr 1:180,115,061...180,139,981
Ensembl chr 1:180,115,120...180,139,980
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G |
Il6 |
interleukin 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7834629 |
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NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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G |
Il6r |
interleukin 6 receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7834629 |
|
NCBI chr 2:175,289,157...175,347,719
Ensembl chr 2:175,298,686...175,347,536
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G |
Inpp4b |
inositol polyphosphate-4-phosphatase type II B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29415082 |
|
NCBI chr19:25,920,189...26,670,085
Ensembl chr19:25,925,358...26,280,634
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G |
Insr |
insulin receptor |
|
ISO |
|
RGD |
PMID:15753986 |
RGD:2290462 |
NCBI chr12:1,193,193...1,330,976
Ensembl chr12:1,197,100...1,330,883
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G |
Jun |
Jun proto-oncogene, AP-1 transcription factor subunit |
|
ISO |
|
RGD |
PMID:16006965 |
RGD:1549443 |
NCBI chr 5:109,894,175...109,897,268
Ensembl chr 5:109,893,145...109,897,656
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G |
Jup |
junction plakoglobin |
|
ISO |
|
RGD |
PMID:15701841 PMID:9891472 |
RGD:2291866, RGD:2291890 |
NCBI chr10:85,300,438...85,327,378
Ensembl chr10:85,300,440...85,327,057
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G |
Kank1 |
KN motif and ankyrin repeat domains 1 |
|
ISO |
DNA, mRNA, protein:hypermethylation, decreased expression:kidney |
RGD |
PMID:12133830 |
RGD:2315654 |
NCBI chr 1:222,877,962...223,074,514
Ensembl chr 1:222,877,622...223,074,514
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G |
Kcnh1 |
potassium voltage-gated channel subfamily H member 1 |
|
ISO |
protein:increased expression:kidney (human) |
RGD |
PMID:18777199 |
RGD:9693695 |
NCBI chr13:103,722,140...104,024,762
Ensembl chr13:103,722,245...104,024,740
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G |
Kcnma1 |
potassium calcium-activated channel subfamily M alpha 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23797736 |
|
NCBI chr15:302,480...1,007,675
Ensembl chr15:302,214...1,001,198
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G |
Kdm4c |
lysine demethylase 4C |
|
ISO |
DNA:deletion:cds (human) |
RGD |
PMID:22483639 |
RGD:9587741 |
NCBI chr 5:88,100,710...88,306,821
Ensembl chr 5:88,100,733...88,306,818
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G |
Kdm5c |
lysine demethylase 5C |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22138691 |
|
NCBI chr X:21,345,459...21,387,045
Ensembl chr X:21,345,481...21,381,870
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G |
Kdm6a |
lysine demethylase 6A |
|
ISO |
mRNA, protein:increased expression:kidney (human) |
RGD |
PMID:23057811 |
RGD:9587837 |
NCBI chr X:4,337,466...4,477,100
Ensembl chr X:4,337,750...4,477,062
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G |
Kdm6b |
lysine demethylase 6B |
|
ISO |
mRNA, protein:increased expression:kidney (human) |
RGD |
PMID:23057811 |
RGD:9587837 |
NCBI chr10:54,120,716...54,142,212
Ensembl chr10:54,121,848...54,130,794
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G |
Kdr |
kinase insert domain receptor |
treatment |
ISO |
|
RGD |
PMID:17653245 PMID:16763608 PMID:17332933 |
RGD:2301756, RGD:126925190, RGD:8552363 |
NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
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G |
Keap1 |
Kelch-like ECH-associated protein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23797736 |
|
NCBI chr 8:19,768,375...19,777,862
Ensembl chr 8:19,768,375...19,777,862
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G |
Kit |
KIT proto-oncogene receptor tyrosine kinase |
|
ISO |
chromophobe RCC only papillary RCC only |
RGD |
PMID:15780567 PMID:15073597 |
RGD:2292414, RGD:2292421 |
NCBI chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652
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G |
Klk6 |
kallikrein related-peptidase 6 |
|
ISO |
protein:decreased expression:kidney |
RGD |
PMID:16340244 |
RGD:2314864 |
NCBI chr 1:94,278,863...94,286,136
Ensembl chr 1:94,280,340...94,286,121
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G |
Kras |
KRAS proto-oncogene, GTPase |
|
ISO |
mRNA:increased expression:kidney |
RGD |
PMID:11851621 |
RGD:2314914 |
NCBI chr 4:178,185,418...178,218,484
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G |
Krt32 |
keratin 32 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23797736 |
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NCBI chr10:85,013,551...85,020,578
Ensembl chr10:85,013,554...85,020,534
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G |
Krt7 |
keratin 7 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15108329 PMID:16927643 |
|
NCBI chr 7:132,528,881...132,545,052
Ensembl chr 7:132,528,895...132,545,052
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G |
Krt8 |
keratin 8 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15108329 |
|
NCBI chr 7:133,124,203...133,131,656
Ensembl chr 7:133,124,203...133,131,728
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G |
L1cam |
L1 cell adhesion molecule |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21097529 |
|
NCBI chr X:151,597,270...151,623,776
Ensembl chr X:151,597,277...151,623,857
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G |
Ldhb |
lactate dehydrogenase B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15108329 |
|
NCBI chr 4:175,428,382...175,446,403
Ensembl chr 4:175,428,385...175,446,403
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G |
Lep |
leptin |
resistance |
ISO |
|
RGD |
PMID:19278051 |
RGD:6907119 |
NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262
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G |
Lman2l |
lectin, mannose-binding 2-like |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23797736 |
|
NCBI chr 9:38,661,709...38,685,244
Ensembl chr 9:38,661,712...38,685,337
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G |
Lnpep |
leucyl and cystinyl aminopeptidase |
|
ISO |
|
RGD |
PMID:17692401 |
RGD:2314919 |
NCBI chr 1:58,258,642...58,355,532
Ensembl chr 1:58,258,642...58,354,544
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G |
Lrp1b |
LDL receptor related protein 1B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22138691 |
|
NCBI chr 3:24,594,302...26,715,037
Ensembl chr 3:24,594,991...26,715,505
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G |
Lrrk2 |
leucine-rich repeat kinase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22138691 |
|
NCBI chr 7:122,826,696...122,987,711
Ensembl chr 7:122,826,696...122,987,703
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G |
Ltf |
lactotransferrin |
|
ISO |
|
RGD |
PMID:23201854 |
RGD:7243106 |
NCBI chr 8:110,999,948...111,022,795
Ensembl chr 8:110,999,948...111,022,795
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G |
M6pr |
mannose-6-phosphate receptor, cation dependent |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23797736 |
|
NCBI chr 4:155,501,080...155,510,219
Ensembl chr 4:155,500,921...155,510,216
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G |
Manf |
mesencephalic astrocyte-derived neurotrophic factor |
susceptibility |
ISO |
|
RGD |
PMID:8649854 |
RGD:1599220 |
NCBI chr 8:107,500,856...107,551,595
Ensembl chr 8:107,548,352...107,551,438
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G |
Map2k1 |
mitogen activated protein kinase kinase 1 |
|
ISO |
|
RGD |
PMID:7664295 PMID:18172299 |
RGD:2292629, RGD:2292630 |
NCBI chr 8:64,683,449...64,754,900
Ensembl chr 8:64,683,449...64,755,147
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G |
Mapk1 |
mitogen activated protein kinase 1 |
susceptibility |
ISO |
DNA:missense mutation: :multiple |
RGD |
PMID:22517515 |
RGD:13504815 |
NCBI chr11:83,957,813...84,023,629
Ensembl chr11:83,957,813...84,023,616
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G |
Met |
MET proto-oncogene, receptor tyrosine kinase |
|
ISO |
ClinVar Annotator: match by term: Renal adenocarcinoma | ClinVar Annotator: match by term: Renal cell carcinoma | ClinVar Annotator: match by term: Renal cell carcinoma, somatic ClinVar Annotator: match by term: Renal adenocarcinoma | ClinVar Annotator: match by term: Renal cell carcinoma | ClinVar Annotator: match by term: Renal cell carcinoma with paraneoplastic erythrocytosis | ClinVar Annotator: match by term: Renal cell carcinoma, somatic CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:1104268 PMID:9140397 PMID:9326629 PMID:9536098 PMID:9563489 PMID:9731534 PMID:9826708 PMID:10327054 PMID:10417759 PMID:10433944 PMID:10498872 PMID:11042681 PMID:11354004 PMID:11750879 PMID:11927612 PMID:12920089 PMID:14559814 PMID:15371818 PMID:15592501 PMID:15735036 PMID:16189274 PMID:16199547 PMID:16434318 PMID:17088437 PMID:17483355 PMID:17576681 PMID:18564920 PMID:19318576 PMID:19459657 PMID:19723643 PMID:20126411 PMID:20139696 PMID:20670955 PMID:20949619 PMID:21774103 PMID:21904579 PMID:21970370 PMID:22703879 PMID:22717761 PMID:23213094 PMID:23806086 PMID:24033266 PMID:24061647 PMID:24088041 PMID:24121490 PMID:24319509 PMID:24339735 PMID:24658158 PMID:24728327 PMID:25157968 PMID:25394175 PMID:25401301 PMID:25605252 PMID:25636233 PMID:25637381 PMID:25640679 PMID:25736269 PMID:25741868 PMID:25859546 PMID:26173098 PMID:26467025 PMID:26580448 PMID:26700204 PMID:26718692 PMID:26887047 PMID:27153395 PMID:27666373 PMID:27696107 PMID:28166811 PMID:28259294 PMID:28294470 PMID:28459198 PMID:28476232 PMID:28492532 PMID:28603720 PMID:28619094 PMID:28873162 PMID:28961830 PMID:28975465 PMID:29084058 PMID:29202410 PMID:29219214 PMID:29360161 PMID:29641532 PMID:29684080 PMID:29978187 PMID:30093976 PMID:30530636 PMID:32091409 PMID:32770124 PMID:32830346 PMID:32934698 PMID:33255238 PMID:33588785 PMID:33606809 PMID:34646395 PMID:34882875 PMID:35264596 PMID:35441217 PMID:9140397 More...
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RGD:1600122 |
NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876
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G |
Mgp |
matrix Gla protein |
disease_progression |
ISO |
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RGD |
PMID:1399132 |
RGD:2293578 |
NCBI chr 4:169,766,290...169,769,612
Ensembl chr 4:169,766,279...169,769,667
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G |
Mir31 |
microRNA 31 |
severity |
ISO |
RNA:decreased expression:proximal convoluted tubule (human) |
RGD |
PMID:30597305 |
RGD:153297805 |
NCBI chr 5:103,599,038...103,599,143
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G |
Mitf |
melanocyte inducing transcription factor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22012259 |
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NCBI chr 4:130,409,020...130,621,145
Ensembl chr 4:130,409,217...130,621,145
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G |
Mlh1 |
mutL homolog 1 |
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ISO |
protein:decreased expression:kidney |
RGD |
PMID:16426918 |
RGD:2293509 |
NCBI chr 8:111,196,468...111,233,721
Ensembl chr 8:111,196,468...111,233,617
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G |
Mllt10 |
MLLT10, histone lysine methyltransferase DOT1L cofactor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23797736 |
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NCBI chr17:80,821,870...80,949,349
Ensembl chr17:80,822,556...80,949,345
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G |
Mmp1 |
matrix metallopeptidase 1 |
susceptibility no_association |
ISO |
DNA:insertion:promoter:g.-1607insG (human) |
RGD |
PMID:12845675 PMID:17980059 |
RGD:7207023, RGD:7207082 |
NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
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G |
Mmp2 |
matrix metallopeptidase 2 |
disease_progression |
ISO |
protein:increased expression:kidney mRNA:decreased expression:kidney |
RGD |
PMID:17572184 PMID:18035688 |
RGD:2290359, RGD:2290358 |
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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G |
Mmp3 |
matrix metallopeptidase 3 |
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ISO |
DNA:missense mutation:cds:p.E45K rs679620 (human) |
RGD |
PMID:15319295 PMID:19551141 |
RGD:7207067, RGD:7241233 |
NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961
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G |
Mmp9 |
matrix metallopeptidase 9 |
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ISO |
mRNA:increased expression:kidney |
RGD |
PMID:18035688 |
RGD:2290358 |
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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G |
Mok |
MOK protein kinase |
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ISO |
mRNA:increased expression:kidney |
RGD |
PMID:15900605 |
RGD:7243170 |
NCBI chr 6:129,823,794...129,854,669
Ensembl chr 6:129,823,795...129,854,700
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G |
Msgn1 |
mesogenin 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23797736 |
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NCBI chr 6:33,912,787...33,913,427
Ensembl chr 6:33,912,787...33,913,427
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G |
Msh2 |
mutS homolog 2 |
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ISO |
protein:decreased expression:kidney ClinVar Annotator: match by term: Renal adenocarcinoma |
ClinVar RGD |
PMID:18325052 PMID:21926548 PMID:24506336 PMID:24763289 PMID:25637381 PMID:25741868 PMID:26467025 PMID:26878173 PMID:26951660 PMID:28195393 PMID:28202063 PMID:28492532 PMID:28640387 PMID:28828701 PMID:29887214 PMID:30306255 PMID:30998989 PMID:31297992 PMID:31391288 PMID:32658311 PMID:32719484 PMID:33357406 PMID:33471991 PMID:33630411 PMID:34371384 PMID:34426522 PMID:35245693 PMID:35264596 PMID:36845387 PMID:16426918 More...
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RGD:2293509 |
NCBI chr 6:6,813,793...6,872,960
Ensembl chr 6:6,813,795...6,872,938
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G |
Mthfr |
methylenetetrahydrofolate reductase |
susceptibility |
ISO |
DNA:missense mutation:cds:p.A222V (rs1801133) (human) |
RGD |
PMID:18098291 |
RGD:6893654 |
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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G |
Mtor |
mechanistic target of rapamycin kinase |
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ISO |
ClinVar Annotator: match by term: Renal adenocarcinoma CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:20190810 PMID:22729223 PMID:23797736 PMID:24631838 PMID:25599672 PMID:25741868 PMID:25799227 PMID:26018084 PMID:26619011 PMID:27159400 PMID:27830187 PMID:28492532 PMID:28864461 PMID:28892148 PMID:29281825 PMID:21881486 More...
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RGD:7207420 |
NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311
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G |
Muc1 |
mucin 1, cell surface associated |
disease_progression |
ISO |
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RGD |
PMID:10390012 |
RGD:7245968 |
NCBI chr 2:174,635,989...174,640,738
Ensembl chr 2:174,635,995...174,640,733
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G |
Muc4 |
mucin 4, cell surface associated |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23797736 |
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NCBI chr11:68,008,245...68,053,242
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G |
Myc |
MYC proto-oncogene, bHLH transcription factor |
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ISO IEP |
mRNA:increased expression:kidney (human) protein:increased expression:kidney (rat) |
RGD |
PMID:21982273 PMID:18055543 |
RGD:7207793, RGD:7207841 |
NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630
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G |
Nav3 |
neuron navigator 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22138691 |
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NCBI chr 7:45,052,206...45,840,471
Ensembl chr 7:45,054,296...45,840,698
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G |
Ndrg1 |
N-myc downstream regulated 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15108329 |
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NCBI chr 7:98,684,487...98,725,869
Ensembl chr 7:98,684,487...98,725,880
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G |
Nf2 |
NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor |
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ISO ISS |
OMIM:300854 CTD Direct Evidence: marker/mechanism |
MouseDO CTD RGD |
PMID:25401301 PMID:19487675 |
RGD:2315000 |
NCBI chr14:79,627,399...79,710,709
Ensembl chr14:79,627,399...79,710,667
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G |
Nfe2l2 |
NFE2 like bZIP transcription factor 2 |
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ISO |
ClinVar Annotator: match by term: Renal adenocarcinoma | ClinVar Annotator: match by term: Renal cell carcinoma |
ClinVar |
PMID:26619011 |
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NCBI chr 3:60,594,239...60,621,712
Ensembl chr 3:60,594,242...60,621,737
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G |
Nlrp12 |
NLR family, pyrin domain containing 12 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23797736 |
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NCBI chr 1:65,932,610...65,969,873
Ensembl chr 1:65,932,595...65,960,934
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G |
Nme1 |
NME/NM23 nucleoside diphosphate kinase 1 |
disease_progression |
ISO |
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RGD |
PMID:9663430 |
RGD:2299059 |
NCBI chr10:78,907,036...78,929,659
Ensembl chr10:78,906,083...78,916,408
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G |
Nnmt |
nicotinamide N-methyltransferase |
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ISO |
mRNA:increased expression:kidney mRNA:increased expression:kidney (human) |
RGD |
PMID:17070307 PMID:15682440 |
RGD:2299120, RGD:401793726 |
NCBI chr 8:48,928,663...48,947,734
Ensembl chr 8:48,933,598...48,946,655
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G |
Nr3c1 |
nuclear receptor subfamily 3, group C, member 1 |
severity treatment |
ISO |
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RGD |
PMID:21531004 PMID:18181043 |
RGD:7174727, RGD:7174733 |
NCBI chr18:31,271,681...31,393,320
Ensembl chr18:31,271,681...31,393,375
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G |
Nras |
NRAS proto-oncogene, GTPase |
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ISO |
ClinVar Annotator: match by term: Renal adenocarcinoma | ClinVar Annotator: match by term: Renal cell carcinoma |
ClinVar |
PMID:1654209 PMID:2278970 PMID:2674680 PMID:3122217 PMID:6587382 PMID:8120410 PMID:10821536 PMID:12460918 PMID:12727991 PMID:14508525 PMID:15899789 PMID:16273091 PMID:16291983 PMID:16434492 PMID:17699718 PMID:18390968 PMID:18633438 PMID:18668139 PMID:18948947 PMID:19075190 PMID:19657110 PMID:19880792 PMID:19966803 PMID:20130576 PMID:20149136 PMID:20179705 PMID:20406486 PMID:20619739 PMID:20736745 PMID:21107323 PMID:21305640 PMID:21576590 PMID:21729679 PMID:21829508 PMID:22407852 PMID:22499344 PMID:22718121 PMID:22761467 PMID:22773810 PMID:23076151 PMID:23392294 PMID:23400451 PMID:23414587 PMID:23515407 PMID:23538902 PMID:23569304 PMID:23614898 PMID:24006476 PMID:24033266 PMID:24148783 PMID:24370118 PMID:24671188 PMID:25157968 PMID:25348872 PMID:25695684 PMID:25741868 PMID:26619011 PMID:26821351 PMID:27050078 PMID:28492532 PMID:28780248 More...
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NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626
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G |
Nrp1 |
neuropilin 1 |
disease_progression |
ISO |
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RGD |
PMID:31880322 |
RGD:401901169 |
NCBI chr19:56,359,455...56,514,628
Ensembl chr19:56,359,455...56,513,633
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G |
Ogg1 |
8-oxoguanine DNA glycosylase |
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IEP ISO |
CTD Direct Evidence: marker/mechanism |
CTD OMIM RGD |
PMID:18218111 PMID:10987279 |
RGD:2317140, RGD:1600295 |
NCBI chr 4:146,474,701...146,481,959
Ensembl chr 4:146,474,750...146,484,766
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G |
Or4c105 |
olfactory receptor family 4 subfamily C member 105 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23797736 |
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NCBI chr 3:74,582,417...74,583,346
Ensembl chr 3:74,579,912...74,593,375
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G |
Pak1 |
p21 (RAC1) activated kinase 1 |
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ISO |
protein:increased expression:kidney CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:17621631 PMID:17621631 |
RGD:2299159 |
NCBI chr 1:152,111,172...152,226,390
Ensembl chr 1:152,111,188...152,226,383
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G |
Pbrm1 |
polybromo 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
OMIM CTD RGD |
PMID:22138691 PMID:23797736 PMID:21654818 |
RGD:6907137 |
NCBI chr16:6,213,507...6,312,895
Ensembl chr16:6,213,300...6,311,780
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G |
Pcna |
proliferating cell nuclear antigen |
severity |
ISO |
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RGD |
PMID:11369057 |
RGD:2315008 |
NCBI chr 3:119,499,039...119,502,911
Ensembl chr 3:119,498,810...119,502,995
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G |
Pdcd1 |
programmed cell death 1 |
disease_progression |
ISO |
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RGD |
PMID:17363529 |
RGD:7248680 |
NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937
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G |
Pdgfra |
platelet derived growth factor receptor alpha |
disease_progression |
ISO |
protein:increased expression:kidney |
RGD |
PMID:12866380 |
RGD:2292157 |
NCBI chr14:33,005,838...33,054,347
Ensembl chr14:33,005,839...33,054,335
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G |
Pdgfrb |
platelet derived growth factor receptor beta |
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ISO |
mRNA:increased expression:kidney |
RGD |
PMID:15994946 PMID:16865223 |
RGD:2292198, RGD:2290496 |
NCBI chr18:54,499,962...54,538,840
Ensembl chr18:54,499,964...54,538,843
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G |
Pdhb |
pyruvate dehydrogenase E1 subunit beta |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25401301 |
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NCBI chr15:16,752,561...16,758,503
Ensembl chr15:16,750,980...16,758,500
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G |
Pdpn |
podoplanin |
disease_progression |
ISO |
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RGD |
PMID:18291512 |
RGD:2292239 |
NCBI chr 5:155,601,691...155,635,656
Ensembl chr 5:155,601,691...155,635,656
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G |
Pdxdc1 |
pyridoxal-dependent decarboxylase domain containing 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25401301 |
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NCBI chr10:2,025,056...2,113,712
Ensembl chr10:2,025,360...2,113,520
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G |
Pebp1 |
phosphatidylethanolamine binding protein 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25329396 |
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NCBI chr12:39,302,864...39,307,064
Ensembl chr12:39,302,840...39,307,862
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G |
Pfas |
phosphoribosylformylglycinamidine synthase |
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ISO |
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RGD |
PMID:6722784 |
RGD:5135276 |
NCBI chr10:53,690,301...53,711,811
Ensembl chr10:53,691,626...53,708,420
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G |
Pgf |
placental growth factor |
disease_progression |
ISO |
protein:increased expression:plasma |
RGD |
PMID:14981951 |
RGD:13506645 |
NCBI chr 6:104,816,102...104,826,685
Ensembl chr 6:104,816,104...104,826,685
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G |
Pgk1 |
phosphoglycerate kinase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15108329 |
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NCBI chr X:71,271,454...71,287,429
Ensembl chr X:71,271,440...71,287,418
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G |
Pidd1 |
p53-induced death domain protein 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20208132 |
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NCBI chr 1:196,536,815...196,542,808
Ensembl chr 1:196,536,834...196,542,699
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G |
Pik3ca |
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Renal adenocarcinoma | ClinVar Annotator: match by term: Renal cell carcinoma |
CTD ClinVar |
PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 PMID:15805248 PMID:15930273 PMID:16906227 PMID:16930767 PMID:17376864 PMID:17673550 PMID:18676830 PMID:18725974 PMID:19029981 PMID:19223544 PMID:19366826 PMID:19513541 PMID:19903786 PMID:20453058 PMID:20593314 PMID:20619739 PMID:21078999 PMID:21430269 PMID:21558396 PMID:21824802 PMID:22162582 PMID:22162589 PMID:22271473 PMID:22370636 PMID:22658544 PMID:22729222 PMID:22729223 PMID:22729224 PMID:23066039 PMID:23100325 PMID:23408298 PMID:23797736 PMID:23888070 PMID:23946963 PMID:24033266 PMID:24265155 PMID:24782230 PMID:25157968 PMID:25599672 PMID:25681199 PMID:25741868 PMID:25880439 PMID:25915946 PMID:26266975 PMID:26266985 PMID:26619011 PMID:26627007 PMID:26637981 PMID:26822237 PMID:27126994 PMID:27626068 PMID:27631024 PMID:28151489 PMID:28425981 PMID:28492532 PMID:29446767 PMID:29661094 PMID:29988677 PMID:30376034 PMID:30543347 PMID:31536475 PMID:31775759 PMID:32778138 PMID:34008892 PMID:34496175 PMID:34568242 PMID:34606700 PMID:37667289 PMID:37712948 More...
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NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
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G |
Pik3r1 |
phosphoinositide-3-kinase regulatory subunit 1 |
disease_progression |
ISO |
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RGD |
PMID:25757764 |
RGD:13504823 |
NCBI chr 2:32,878,942...32,963,668
Ensembl chr 2:32,882,032...32,963,631
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G |
Plau |
plasminogen activator, urokinase |
severity |
ISO |
mRNA:increased expression:kidney (human) |
RGD |
PMID:20544684 |
RGD:7241133 |
NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775
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G |
Pld2 |
phospholipase D2 |
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ISO |
protein:increased expression:kidney |
RGD |
PMID:11185526 |
RGD:2299898 |
NCBI chr10:55,256,326...55,274,192
Ensembl chr10:55,256,359...55,272,808
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G |
Pmepa1 |
prostate transmembrane protein, androgen induced 1 |
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ISO |
mRNA:increased expression:kidney |
RGD |
PMID:11568975 |
RGD:2315108 |
NCBI chr 3:162,011,884...162,060,343
Ensembl chr 3:162,012,751...162,060,454
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G |
Pnkd |
PNKD metallo-beta-lactamase domain containing |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25401301 |
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NCBI chr 9:75,868,620...75,937,126
Ensembl chr 9:75,867,468...75,937,124
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G |
Pomc |
proopiomelanocortin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:2844640 |
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NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664
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G |
Ppat |
phosphoribosyl pyrophosphate amidotransferase |
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IEP |
protein:increased activity:tumor (rat) |
RGD |
PMID:476627 |
RGD:5135050 |
NCBI chr14:31,215,741...31,250,144
Ensembl chr14:31,216,165...31,250,144
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G |
Pramex1 |
PRAME like, X-linked 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16179254 |
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NCBI chr X:98,567,994...98,574,654
Ensembl chr X:98,569,415...98,572,096
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G |
Prcc |
proline rich mitotic checkpoint control factor |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Renal cell carcinoma, somatic |
CTD ClinVar |
PMID:25741868 |
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NCBI chr 2:173,326,261...173,351,799
Ensembl chr 2:173,326,259...173,351,825
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G |
Psmb9 |
proteasome 20S subunit beta 9 |
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ISO |
DNA:snp:promoter:g.-151G>T (human) |
RGD |
PMID:11788900 |
RGD:9999148 |
NCBI chr20:4,667,044...4,672,512
Ensembl chr20:4,666,046...4,672,512
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G |
Pten |
phosphatase and tensin homolog |
disease_progression |
ISO IEP |
ClinVar Annotator: match by term: Renal adenocarcinoma | ClinVar Annotator: match by term: Renal cell carcinoma protein:decreased expression:kidney (rat) CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:1945792 PMID:9467011 PMID:9915974 PMID:10866302 PMID:11051241 PMID:11504908 PMID:11875759 PMID:11948419 PMID:16773562 PMID:17526801 PMID:17942903 PMID:18767981 PMID:19457929 PMID:20085938 PMID:20300775 PMID:20301661 PMID:20926450 PMID:21190448 PMID:21194675 PMID:21659347 PMID:21822720 PMID:21824802 PMID:21828076 PMID:22266152 PMID:22320991 PMID:22327138 PMID:22595938 PMID:23335809 PMID:23361946 PMID:23399955 PMID:23470840 PMID:24292679 PMID:24778394 PMID:25157968 PMID:25401301 PMID:25527629 PMID:25741868 PMID:26418532 PMID:26619011 PMID:26798346 PMID:27477328 PMID:27535533 PMID:28475857 PMID:28492532 PMID:28677221 PMID:29359449 PMID:29706350 PMID:29785012 PMID:30311380 PMID:30528446 PMID:31159747 PMID:31636093 PMID:32350270 PMID:32442409 PMID:33077954 PMID:17681738 PMID:22737271 PMID:15821467 PMID:17886097 More...
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RGD:1643331, RGD:12802360, RGD:2292513, RGD:2292500 |
NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
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Ptgs1 |
prostaglandin-endoperoxide synthase 1 |
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IEP |
mRNA:increased expression:kidney |
RGD |
PMID:12708469 |
RGD:2300212 |
NCBI chr 3:19,584,015...19,605,589
Ensembl chr 3:19,584,015...19,605,586
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Ptgs2 |
prostaglandin-endoperoxide synthase 2 |
disease_progression |
IEP ISO |
mRNA:decreased expression:kidney CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:12664575 PMID:12708469 PMID:17899436 |
RGD:2300212, RGD:2300204 |
NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
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Pvalb |
parvalbumin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16927643 |
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NCBI chr 7:109,772,939...109,787,954
Ensembl chr 7:109,772,593...109,784,561
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Rassf1 |
Ras association domain family member 1 |
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ISO |
DNA:hypermethylation:promoter |
RGD |
PMID:17645803 PMID:12222680 |
RGD:2299866, RGD:2291977 |
NCBI chr 8:108,225,023...108,236,164
Ensembl chr 8:108,225,023...108,236,164
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Rb1 |
RB transcriptional corepressor 1 |
disease_progression |
ISO |
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RGD |
PMID:11549509 |
RGD:2299893 |
NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302
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Rela |
RELA proto-oncogene, NF-kB subunit |
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ISO |
CTD Direct Evidence: marker/mechanism protein:increased expression:kidney |
CTD RGD |
PMID:18089796 PMID:17290398 PMID:12663495 |
RGD:2298755, RGD:2298771 |
NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484
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Rheb |
Ras homolog, mTORC1 binding |
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ISO |
ClinVar Annotator: match by term: Renal adenocarcinoma |
ClinVar |
PMID:26619011 |
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NCBI chr 4:10,278,970...10,320,160
Ensembl chr 4:10,279,370...10,320,160
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Rnf139 |
ring finger protein 139 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD OMIM RGD |
PMID:9689122 PMID:17539022 |
RGD:1599629, RGD:2289870 |
NCBI chr 7:90,439,726...90,450,911
Ensembl chr 7:90,436,621...90,488,009
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Rpl14 |
ribosomal protein L14 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23797736 |
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NCBI chr 8:120,286,035...120,289,160
Ensembl chr 8:120,284,645...120,289,064
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RT1-Db1 |
RT1 class II, locus Db1 |
susceptibility disease_progression |
ISO |
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RGD |
PMID:9044854 PMID:12771724 PMID:10895068 |
RGD:2314704, RGD:2314695, RGD:2314701 |
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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Ryr1 |
ryanodine receptor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22138691 |
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NCBI chr 1:84,292,578...84,423,824
Ensembl chr 1:84,292,578...84,423,812
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Scarb1 |
scavenger receptor class B, member 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21131975 |
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NCBI chr12:31,296,143...31,362,649
Ensembl chr12:31,296,156...31,362,647
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Sdhb |
succinate dehydrogenase complex iron sulfur subunit B |
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ISO |
ClinVar Annotator: match by term: Renal adenocarcinoma | ClinVar Annotator: match by term: Renal cell carcinoma |
ClinVar RGD |
PMID:18728283 PMID:19576851 PMID:22835832 PMID:24055113 PMID:24092654 PMID:25637381 PMID:25741868 PMID:26332594 PMID:26467025 PMID:28374168 PMID:28492532 PMID:30050099 PMID:34906457 PMID:21771581 More...
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RGD:6907134 |
NCBI chr 5:153,264,906...153,285,570
Ensembl chr 5:153,264,899...153,314,293
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Sdhd |
succinate dehydrogenase complex subunit D |
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ISO |
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RGD |
PMID:21771581 |
RGD:6907134 |
NCBI chr 8:50,944,702...50,954,298
Ensembl chr 8:50,944,704...50,954,238
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Setd2 |
SET domain containing 2, histone lysine methyltransferase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:22138691 PMID:23797736 PMID:21654818 |
RGD:6907137 |
NCBI chr 8:110,511,808...110,597,475
Ensembl chr 8:110,511,772...110,597,489
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Sf3b1 |
splicing factor 3b, subunit 1 |
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ISO |
ClinVar Annotator: match by term: Renal adenocarcinoma |
ClinVar |
PMID:26619011 |
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NCBI chr 9:56,492,403...56,532,300
Ensembl chr 9:56,492,403...56,532,300
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Sf3b2 |
splicing factor 3b, subunit 2 |
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ISO |
ClinVar Annotator: match by term: Renal adenocarcinoma |
ClinVar |
PMID:26619011 |
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NCBI chr 1:202,570,423...202,590,774
Ensembl chr 1:202,570,423...202,590,759
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Sfrp1 |
secreted frizzled-related protein 1 |
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ISO |
mRNA:decreased expression:kidney |
RGD |
PMID:20420713 |
RGD:4107084 |
NCBI chr16:68,575,763...68,614,180
Ensembl chr16:68,575,763...68,614,286
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Sfrp2 |
secreted frizzled-related protein 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18404682 |
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NCBI chr 2:169,089,517...169,097,064
Ensembl chr 2:169,089,517...169,097,063
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Shank1 |
SH3 and multiple ankyrin repeat domains 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22138691 |
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NCBI chr 1:94,807,879...94,857,356
Ensembl chr 1:94,808,276...94,855,824
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Skp2 |
S-phase kinase associated protein 2 |
disease_progression |
ISO |
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RGD |
PMID:18922157 |
RGD:2315038 |
NCBI chr 2:58,161,226...58,189,293
Ensembl chr 2:58,161,229...58,189,338
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Slc2a1 |
solute carrier family 2 member 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7921415 |
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NCBI chr 5:132,717,196...132,745,416
Ensembl chr 5:132,717,196...132,745,416
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Slc49a4 |
solute carrier family 49 member 4 |
susceptibility |
ISO |
DNA:translocation:intron:t(2;3)(q35;q21) |
RGD |
PMID:11912179 |
RGD:1601072 |
NCBI chr11:64,995,629...65,068,929
Ensembl chr11:64,995,679...65,068,926
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Slc5a3 |
solute carrier family 5 member 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25401301 |
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NCBI chr11:31,313,847...31,316,293
Ensembl chr11:31,295,476...31,318,883
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Smad2 |
SMAD family member 2 |
severity |
ISO |
protein:decreased expression:kidney |
RGD |
PMID:11332076 |
RGD:2299973 |
NCBI chr18:69,849,884...69,918,926
Ensembl chr18:69,850,377...69,912,323
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Smad4 |
SMAD family member 4 |
severity |
ISO |
protein:decreased expression:kidney |
RGD |
PMID:11332076 |
RGD:2299973 |
NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438
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Smarcc1 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1 |
disease_progression |
ISO |
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RGD |
PMID:33532313 |
RGD:127285652 |
NCBI chr 8:110,111,097...110,214,734
Ensembl chr 8:110,111,122...110,214,720
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Sod2 |
superoxide dismutase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15108329 |
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NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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Sparc |
secreted protein acidic and cysteine rich |
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ISO |
mRNA, protein:increased expression:kidney |
RGD |
PMID:11679940 |
RGD:2300025 |
NCBI chr10:39,516,394...39,538,252
Ensembl chr10:39,516,406...39,538,396
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Spink1 |
serine peptidase inhibitor, Kazal type 1 |
disease_progression |
ISO |
protein:decreased expression:kidney protein:increased expression:serum |
RGD |
PMID:10508484 PMID:11176522 |
RGD:2300388, RGD:2300387 |
NCBI chr18:35,870,723...35,882,693
Ensembl chr18:35,824,550...35,882,642
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Sptbn4 |
spectrin, beta, non-erythrocytic 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22138691 |
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NCBI chr 1:82,650,750...82,738,345
Ensembl chr 1:82,650,751...82,737,228
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St14 |
ST14 transmembrane serine protease matriptase |
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ISO |
protein:increased expression:kidney |
RGD |
PMID:16501837 |
RGD:2315090 |
NCBI chr 8:29,540,805...29,581,704
Ensembl chr 8:29,540,811...29,581,517
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ST7 |
suppression of tumorigenicity 7 |
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ISO |
ClinVar Annotator: match by term: Renal adenocarcinoma | ClinVar Annotator: match by term: Renal cell carcinoma | ClinVar Annotator: match by term: Renal cell carcinoma, somatic |
ClinVar |
PMID:28492532 |
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NCBI chr 4:46,041,655...46,289,745
Ensembl chr 4:46,042,236...46,289,740
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Stat3 |
signal transducer and activator of transcription 3 |
disease_progression |
ISO |
DNA:snp protein:increased phosphorylation:kidney |
RGD |
PMID:17602083 PMID:12131365 |
RGD:2291913, RGD:2291917 |
NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
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Syne2 |
spectrin repeat containing nuclear envelope protein 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22138691 |
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NCBI chr 6:94,537,088...94,848,085
Ensembl chr 6:94,537,088...94,848,064
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Tagln2 |
transgelin 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15108329 |
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NCBI chr13:84,966,980...84,973,973
Ensembl chr13:84,967,009...84,973,972
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Terc |
telomerase RNA component |
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ISO |
RNA:decreased expression:kidney |
RGD |
PMID:11156238 |
RGD:2291972 |
NCBI chr 2:112,815,654...112,816,041
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Tert |
telomerase reverse transcriptase |
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ISO |
mRNA, protein:increased expression:kidney |
RGD |
PMID:18250061 |
RGD:2291980 |
NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561
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Tet2 |
tet methylcytosine dioxygenase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23797736 |
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NCBI chr 2:221,988,645...222,072,813
Ensembl chr 2:221,988,645...222,072,534
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Tfe3 |
transcription factor binding to IGHM enhancer 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:12917640 |
RGD:1599384 |
NCBI chr X:14,729,547...14,742,830
Ensembl chr X:14,729,550...14,742,571
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Tfrc |
transferrin receptor |
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ISO |
protein:increased expression:kidney, T cell mRNA:decreased expression:kidney, T cell |
RGD |
PMID:12394762 PMID:8050820 |
RGD:2292024, RGD:2292025 |
NCBI chr11:68,163,413...68,185,257
Ensembl chr11:68,163,413...68,185,257
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Tgfb1 |
transforming growth factor, beta 1 |
disease_progression |
ISO |
protein:increased expression:peripheral blood |
RGD |
PMID:26749573 PMID:25499257 PMID:26631499 |
RGD:11560966, RGD:13506175, RGD:13506173 |
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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Tgm2 |
transglutaminase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15108329 |
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NCBI chr 3:146,772,684...146,801,924
Ensembl chr 3:146,772,687...146,801,981
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Thra |
thyroid hormone receptor alpha |
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ISO |
DNA:mutations (human) |
RGD |
PMID:11756220 |
RGD:2315097 |
NCBI chr10:83,701,885...83,729,408
Ensembl chr10:83,700,755...83,729,936
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Thrb |
thyroid hormone receptor beta |
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ISO |
DNA:mutations (human) |
RGD |
PMID:11756220 |
RGD:2315097 |
NCBI chr15:7,685,180...8,031,920
Ensembl chr15:7,685,180...7,882,916
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Timp1 |
TIMP metallopeptidase inhibitor 1 |
disease_progression |
ISO |
protein:increased expression:kidney |
RGD |
PMID:11595703 |
RGD:2290350 |
NCBI chr X:1,212,969...1,217,714
Ensembl chr X:1,212,972...1,217,664
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Timp2 |
TIMP metallopeptidase inhibitor 2 |
disease_progression |
ISO |
protein:increased expression:kidney mRNA:decreased expression:kidney |
RGD |
PMID:17572184 PMID:18035688 |
RGD:2290359, RGD:2290358 |
NCBI chr10:103,541,199...103,590,611
Ensembl chr10:103,531,505...103,590,611
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Timp3 |
TIMP metallopeptidase inhibitor 3 |
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ISO |
mRNA:decreased expression:kidney |
RGD |
PMID:11576837 |
RGD:2290421 |
NCBI chr 7:17,520,827...17,571,850
Ensembl chr 7:17,521,919...17,571,839
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Timp4 |
TIMP metallopeptidase inhibitor 4 |
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ISO |
mRNA:decreased expression:kidney |
RGD |
PMID:11576837 |
RGD:2290421 |
NCBI chr 4:148,306,021...148,312,558
Ensembl chr 4:148,304,490...148,312,558
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Tlr9 |
toll-like receptor 9 |
severity |
ISO |
protein:decreased expression:tumor, cytoplasm (human) |
RGD |
PMID:21929816 |
RGD:7246915 |
NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
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Tnf |
tumor necrosis factor |
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ISO |
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RGD |
PMID:19384924 PMID:19904265 |
RGD:2315119, RGD:2315113 |
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Tnfrsf10b |
TNF receptor superfamily member 10b |
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ISO |
mRNA:increased expression:kidney |
RGD |
PMID:16865223 PMID:17184908 |
RGD:2290496, RGD:2290491 |
NCBI chr15:44,840,386...44,868,318
Ensembl chr15:44,840,386...44,867,467
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Tnfrsf1a |
TNF receptor superfamily member 1A |
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ISO |
protein:increased expression:serum (human) |
RGD |
PMID:7912320 |
RGD:5131437 |
NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
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Tnfrsf1b |
TNF receptor superfamily member 1B |
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ISO |
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RGD |
PMID:20566746 |
RGD:7245512 |
NCBI chr 5:157,070,642...157,104,216
Ensembl chr 5:157,070,642...157,104,206
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Tnfsf10 |
TNF superfamily member 10 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:20403343 |
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NCBI chr 2:110,199,835...110,227,239
Ensembl chr 2:110,207,916...110,225,135
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Tp53 |
tumor protein p53 |
disease_progression |
ISO |
ClinVar Annotator: match by term: Renal adenocarcinoma | ClinVar Annotator: match by term: Renal cell carcinoma ClinVar Annotator: match by term: Renal adenocarcinoma | ClinVar Annotator: match by term: Renal cell carcinoma | ClinVar Annotator: match by term: Renal cell carcinoma, somatic CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:253702 PMID:960674 PMID:1349175 PMID:1565143 PMID:1565144 PMID:1631137 PMID:1644930 PMID:1737852 PMID:2654466 PMID:3784963 PMID:6736287 PMID:7651740 PMID:7707106 PMID:7718482 PMID:7732013 PMID:7761089 PMID:7885831 PMID:7887414 PMID:8023157 PMID:8080050 PMID:8118819 PMID:8401536 PMID:8402598 PMID:8425176 PMID:8633021 PMID:8718514 PMID:8816796 PMID:8829627 PMID:8869100 PMID:9096669 PMID:9242456 PMID:9290701 PMID:9418900 PMID:9546439 PMID:9572492 PMID:9635828 PMID:9662334 PMID:9667734 PMID:10064694 PMID:10366100 PMID:10432928 PMID:10589545 PMID:10713666 PMID:10753186 PMID:10761705 PMID:10864200 PMID:10871862 PMID:10922393 PMID:11051239 PMID:11139324 PMID:11370630 PMID:11429705 PMID:11668501 PMID:11782540 PMID:11793474 PMID:11896595 PMID:11900253 PMID:11920788 PMID:11920959 PMID:12034820 PMID:12826609 PMID:12909720 PMID:12917626 PMID:14584079 PMID:15037740 PMID:15161705 PMID:15611505 PMID:15850016 PMID:15925506 PMID:15958617 PMID:15977174 PMID:15982667 PMID:16206219 PMID:16312222 PMID:16401470 PMID:16494995 PMID:16508005 PMID:16736287 PMID:16818505 PMID:16861262 PMID:17015838 PMID:17275163 PMID:17390010 PMID:17401428 PMID:17541742 PMID:17567834 PMID:17572079 PMID:17606709 PMID:17724467 PMID:18208484 PMID:18307025 PMID:18453682 PMID:18511570 PMID:18555592 PMID:18689542 PMID:18937320 PMID:19012332 PMID:19101993 PMID:19147582 PMID:19171880 PMID:19336573 PMID:19468865 PMID:19556618 PMID:19681600 PMID:19850740 PMID:19913028 PMID:20028212 PMID:20118236 PMID:20127978 PMID:20128691 PMID:20234365 PMID:20407015 PMID:20505364 PMID:20506564 PMID:20522432 PMID:20586629 PMID:20593220 PMID:20805372 PMID:20972454 PMID:21059199 PMID:21118481 | |