Urologic Neoplasms - Ontology Report - Rat Genome Database

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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.

Term:	Urologic Neoplasms	go back to main search page
Accession:	DOID:9004643	browse the term
Definition:	Tumors or cancer of the URINARY TRACT in either the male or the female.
Synonyms:	exact_synonym:	Urinary Tract Neoplasms; Urological Neoplasm; Urological Neoplasms; neoplasm of urinary system; tumor of the urinary system; tumor of urinary tract; urinary tract neoplasm; urologic neoplasm
	primary_id:	MESH:D014571
	xref:	NCI:C25806

show annotations for term's descendants Sort by:
Rat (732) Mouse (744) Human (10918) Chinchilla (638) Bonobo (683) Dog (728) Squirrel (654) Pig (690) Green Monkey (670) Naked Mole-rat (633) All
Genes (725) Strains (3) Cell Lines (4)

Urologic Neoplasms

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

alpha-methylacyl-CoA racemase

disease_progression

RGD

NCBI chr 2:61,673,291...61,685,381
Ensembl chr 2:59,946,153...59,958,255

G

angiogenin

disease_progression

protein:increased expression:serum

RGD

NCBI chr15:26,786,233...26,796,883

G

ATR serine/threonine kinase

CTD Direct Evidence: marker/mechanism

NCBI chr 8:105,306,299...105,403,742
Ensembl chr 8:96,426,724...96,524,136

G

aurora kinase A

disease_progression

RGD

NCBI chr 3:181,546,742...181,562,890
Ensembl chr 3:161,128,313...161,144,390

G

baculoviral IAP repeat-containing 5

disease_progression

mRNA:increased expression:urine

RGD

NCBI chr10:103,567,369...103,580,069
Ensembl chr10:103,073,408...103,081,380

G

cyclin D1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:209,518,288...209,527,986
Ensembl chr 1:200,089,002...200,098,602

G

enolase 2

RGD

NCBI chr 4:159,258,371...159,267,220
Ensembl chr 4:157,572,088...157,580,980

G

erb-b2 receptor tyrosine kinase 2

disease_progression

RGD

NCBI chr10:83,907,491...83,931,365
Ensembl chr10:83,411,313...83,435,078

G

fragile histidine triad diadenosine triphosphatase

CTD Direct Evidence: marker/mechanism

NCBI chr15:16,365,401...17,872,901
Ensembl chr15:13,934,995...15,442,340

G

hypoxia inducible factor 1 subunit alpha

disease_progression

protein:increased expression:renal/urinary system

RGD

NCBI chr 6:98,357,788...98,405,068
Ensembl chr 6:92,624,390...92,669,261

G

8-oxoguanine DNA glycosylase

CTD Direct Evidence: marker/mechanism

NCBI chr 4:148,030,237...148,037,599
Ensembl chr 4:146,474,750...146,484,766

G

prostaglandin-endoperoxide synthase 2

disease_progression

RGD

NCBI chr13:64,714,063...64,722,320
Ensembl chr13:62,163,932...62,172,188

G

ras homolog family member A

disease_progression

mRNA, protein:increased expression:renal/urinary system

RGD

NCBI chr 8:117,870,548...117,904,303
Ensembl chr 8:108,991,954...109,025,746

G

sulfotransferase family 1A member 1

Urothelial neoplasms
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:18006944 PMID:17619904

NCBI chr 1:190,702,592...190,706,112
Ensembl chr 1:181,272,023...181,275,562

G

tumor protein p53

CTD Direct Evidence: marker/mechanism

NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524

G

tumor protein p63

disease_progression

RGD

NCBI chr11:88,343,647...88,554,543
Ensembl chr11:74,838,859...75,049,398

G

vascular endothelial growth factor A

CTD Direct Evidence: marker/mechanism

NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:14,955,300...14,970,641

G

WW domain-containing oxidoreductase

CTD Direct Evidence: marker/mechanism

NCBI chr19:59,338,402...60,269,323
Ensembl chr19:42,432,152...43,359,391

atypical teratoid rhabdoid tumor

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATRX, chromatin remodeler

ClinVar Annotator: match by term: Atypical teratoid/rhabdoid tumor

PMID:7697714 PMID:8968741 PMID:18414213 PMID:22995991 PMID:24082139 More...

NCBI chr X:74,916,548...75,062,880
Ensembl chr X:70,850,981...70,997,330

G

glypican 3

protein:increased expression:brain (human)

RGD

NCBI chr X:136,789,770...137,157,598
Ensembl chr X:131,868,990...132,236,798

G

SWI/SNF related BAF chromatin remodeling complex subunit B1

OMIM:609322
ClinVar Annotator: match by term: Teratoid tumor, atypical

MouseDO
ClinVar

NCBI chr20:12,740,105...12,763,054
Ensembl chr20:12,741,477...12,763,620

G

tumor protein p53

ClinVar Annotator: match by term: Atypical teratoid/rhabdoid tumor

PMID:1565143 PMID:1591732 PMID:2046748 PMID:4122735 PMID:7565304 More...

NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524

bladder carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

polyamine-modulated factor 1

disease_progression

RGD

NCBI chr 2:176,145,896...176,166,022
Ensembl chr 2:173,848,074...173,868,270

bladder squamous cell carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

phosphatase and tensin homolog

disease_progression

associated with schistosomiasis;protein:decreased expression:urothelium (human)

RGD

NCBI chr 1:240,043,707...240,110,330
Ensembl chr 1:230,630,338...230,696,838

bladder urothelial carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

actin-like 7a

RGD

NCBI chr 5:71,447,447...71,450,440
Ensembl chr 5:71,447,071...71,450,908

G

baculoviral IAP repeat-containing 5

disease_progression

mRNA:increased expression:urinary bladder (human)

NCBI chr10:103,567,369...103,580,069
Ensembl chr10:103,073,408...103,081,380

G

baculoviral IAP repeat-containing 7

disease_progression

mRNA:increased expression:urinary bladder (human)

NCBI chr 3:188,425,392...188,430,174
Ensembl chr 3:168,047,824...168,052,606

G

carbonic anhydrase 2

severity

protein:increased expression:bladder epithelial cell

RGD

PMID:28004470 PMID:28004470

RGD:408426005, RGD:408426005

NCBI chr 2:88,462,883...88,478,012
Ensembl chr 2:86,741,626...86,756,818

G

fibroblast growth factor receptor 3

severity

protein:increased expression:urothelial cells (human)

RGD

NCBI chr14:81,211,800...81,227,215
Ensembl chr14:76,987,993...77,003,341

G

lysine demethylase 6A

susceptibility

associated with upper tract urothelial carcinoma; DNA:mutations:multiple: (human)

RGD

NCBI chr X:4,337,466...4,477,100
Ensembl chr X:4,337,750...4,477,062

childhood kidney cell carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

dicer 1 ribonuclease III

ClinVar Annotator: match by term: Childhood kidney cell carcinoma

PMID:25741868 PMID:28492532

NCBI chr 6:129,392,298...129,457,252
Ensembl chr 6:123,631,250...123,693,965

chromophobe renal cell carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

baculoviral IAP repeat-containing 5

exacerbates

mRNA:increased expression:kidney (human)

NCBI chr10:103,567,369...103,580,069
Ensembl chr10:103,073,408...103,081,380

G

HNF1 homeobox A

RNA:decreased expression:kidney (human)
ClinVar Annotator: match by term: Chromophobe renal cell carcinoma

PMID:9392505 PMID:9754819 PMID:10966642 PMID:11393552 PMID:15649945 More...

NCBI chr12:47,299,171...47,333,457
Ensembl chr12:41,645,587...41,672,104

G

HNF1 homeobox B

ClinVar Annotator: match by term: Chromophobe renal cell carcinoma

PMID:15649945 PMID:16371430 PMID:25536396 PMID:25700310 PMID:25741868

NCBI chr10:69,233,377...69,287,360
Ensembl chr10:68,735,894...68,789,888

clear cell renal cell carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

atypical chemokine receptor 3

mRNA:increased expression:kidney:

RGD

NCBI chr 9:98,247,300...98,258,877
Ensembl chr 9:90,799,686...90,811,237

G

advanced glycosylation end product-specific receptor

mRNA:increased expression:renal cortex (human)

RGD

NCBI chr20:4,152,758...4,155,956
Ensembl chr20:4,147,890...4,151,078

G

ATM serine/threonine kinase

ClinVar Annotator: match by term: Clear cell carcinoma of kidney

PMID:8755918 PMID:9792409 PMID:10980530 PMID:18560558 PMID:19431188 More...

NCBI chr 8:62,724,939...62,829,040
Ensembl chr 8:53,831,093...53,932,437

G

ATP synthase membrane subunit c locus 2

RGD

NCBI chr 7:133,791,341...133,799,713
Ensembl chr 7:133,791,342...133,799,733

G

ATP synthase peripheral stalk-membrane subunit b

RGD

NCBI chr 2:196,112,459...196,123,737
Ensembl chr 2:193,424,047...193,435,418

G

ATP synthase peripheral stalk subunit OSCP

RGD

NCBI chr11:44,651,171...44,657,483
Ensembl chr11:31,165,217...31,171,592

G

BRCA1 associated deubiquitinase 1

ClinVar Annotator: match by term: Clear cell carcinoma of kidney

PMID:25741868 PMID:28492532 PMID:35483881 PMID:35992853

NCBI chr16:6,453,126...6,461,952
Ensembl chr16:6,446,709...6,455,535

G

BCL2 associated X, apoptosis regulator

mRNA, protein:increased expression:kidney

RGD

NCBI chr 1:105,076,472...105,081,906
Ensembl chr 1:95,938,808...95,945,368

G

baculoviral IAP repeat-containing 3

disease_progression

mRNA:increased expression:kidney (human)

NCBI chr 8:13,285,702...13,313,329
Ensembl chr 8:5,000,845...5,015,802

G

baculoviral IAP repeat-containing 5

exacerbates

mRNA:increased expression:kidney (human)

NCBI chr10:103,567,369...103,580,069
Ensembl chr10:103,073,408...103,081,380

G

baculoviral IAP repeat-containing 6

ameliorates

mRNA:increased expression:kidney (human)

NCBI chr 6:26,474,843...26,668,275
Ensembl chr 6:20,722,922...20,916,434

G

similar to human chromosome 11 open reading frame 65

ClinVar Annotator: match by term: Clear cell carcinoma of kidney

PMID:8755918 PMID:9792409 PMID:10980530 PMID:18560558 PMID:19431188 More...

NCBI chr 8:62,692,123...62,720,951
Ensembl chr 8:53,796,366...53,824,748

G

chromodomain helicase DNA binding protein 4

mRNA:decreased expression:kidney (human)

NCBI chr 4:159,584,623...159,617,867
Ensembl chr 4:157,899,391...157,931,541

G

C-X-C motif chemokine ligand 12

mRNA:decreased expression:kidney:

RGD

NCBI chr 4:152,060,781...152,073,628
Ensembl chr 4:150,388,325...150,401,168

G

C-X-C motif chemokine receptor 4

mRNA:increased expression:kidney:

RGD

NCBI chr13:42,630,383...42,634,288
Ensembl chr13:40,077,976...40,081,883

G

discoidin domain receptor tyrosine kinase 1

severity

mRNA, protein:decreased expression:kidney (human)
mRNA:increased expression:kidney, lymph nodes (human)

RGD

PMID:31018949 PMID:27020590

RGD:151347528, RGD:151347863

NCBI chr20:3,047,269...3,069,277
Ensembl chr20:3,044,320...3,064,468

G

DNA methyltransferase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:27,716,797...27,763,405
Ensembl chr 8:19,440,611...19,486,659

G

DNA methyltransferase 3 alpha

CTD Direct Evidence: marker/mechanism

NCBI chr 6:32,507,316...32,621,678
Ensembl chr 6:26,822,609...26,896,687

G

egl-9 family hypoxia-inducible factor 3

disease_progression

RGD

NCBI chr 6:77,385,549...77,411,015
Ensembl chr 6:71,650,297...71,675,766

G

endoglin

severity

protein:increased expression:tumor, vasculature (human)
protein:decreased expression:kidney, tumor (human)

RGD

PMID:22204709 PMID:16536758

RGD:7248775, RGD:7248780

NCBI chr 3:36,332,190...36,370,324
Ensembl chr 3:15,934,518...15,973,230

G

E1A binding protein p300

severity

mRNA:altered expression:kidney, tumor (human)
mRNA, protein:increased expression:kidney

RGD

PMID:23029358 PMID:28551630

RGD:7296925, RGD:15036804

NCBI chr 7:114,987,857...115,058,652
Ensembl chr 7:113,106,247...113,136,088
Ensembl chr 7:113,106,247...113,136,088

G

coagulation factor II, thrombin

protein:increased expression:brain

RGD

NCBI chr 3:98,051,958...98,065,246
Ensembl chr 3:77,596,198...77,609,486

G

Fms related receptor tyrosine kinase 4

CTD Direct Evidence: marker/mechanism

NCBI chr10:34,414,834...34,455,878
Ensembl chr10:33,913,608...33,954,770

G

FTO, alpha-ketoglutarate dependent dioxygenase

disease_progression
treatment

mRNA:decreased expression:kidney
mRNA:increased expression:kidney

RGD

PMID:30648791 PMID:32817424 PMID:32817424

RGD:329812005, RGD:329812006, RGD:329812006

NCBI chr19:31,456,749...31,865,011
Ensembl chr19:15,349,696...15,692,083

G

GATA binding protein 1

disease_progression

RGD

NCBI chr X:17,193,291...17,209,462
Ensembl chr X:14,529,702...14,537,530

G

GATA binding protein 2

disease_progression

RGD

NCBI chr 4:122,211,501...122,225,058
Ensembl chr 4:120,658,986...120,667,761

G

glutathione S-transferase pi 1

RGD

NCBI chr 1:210,767,237...210,770,242
Ensembl chr 1:201,321,672...201,340,226

G

HNF1 homeobox A

ClinVar Annotator: match by term: Clear cell carcinoma of kidney | ClinVar Annotator: match by term: Clear cell renal carcinoma

PMID:8866553 PMID:8945470 PMID:9032114 PMID:9045858 PMID:9075818 More...

NCBI chr12:47,299,171...47,333,457
Ensembl chr12:41,645,587...41,672,104

G

insulin-like growth factor 1 receptor

xenograph of human clear cell renal cancer cells in mouse

RGD

NCBI chr 1:130,959,787...131,248,664
Ensembl chr 1:121,550,743...121,831,777

G

iron-sulfur cluster assembly enzyme

disease_progression

mRNA,protein:decreased expression:kidney (human)

RGD

NCBI chr12:42,852,305...42,858,150
Ensembl chr12:42,852,305...42,858,150

G

lysine acetyltransferase 8

mRNA, protein:decreased expression:kidney (human)

RGD

NCBI chr 1:191,954,827...191,967,107
Ensembl chr 1:182,515,327...182,536,633

G

mitogen-activated protein kinase kinase kinase 8

disease_progression
ameliorates

RGD

PMID:23982215 PMID:23982215

RGD:151356974, RGD:151356974

NCBI chr17:58,078,175...58,098,455
Ensembl chr17:53,383,131...53,403,216

G

microRNA 210

miRNA:increased expression:kidney (human)

RGD

NCBI chr 1:205,755,923...205,756,032
Ensembl chr 1:196,326,337...196,326,454

G

matrix metallopeptidase 12

RGD

NCBI chr 8:12,866,652...12,876,554
Ensembl chr 8:4,581,785...4,599,611

G

methylenetetrahydrofolate reductase

susceptibility
severity

DNA:transition, transversion:cds:g.677C>T, g.1298A>C (human)

RGD

PMID:21489764 PMID:20039875

RGD:6893474, RGD:6893632

NCBI chr 5:163,748,346...163,768,141
Ensembl chr 5:158,465,296...158,483,797

G

MYC proto-oncogene, bHLH transcription factor

severity

protein:increased expression:kidney (human)

RGD

NCBI chr 7:95,483,105...95,488,031
Ensembl chr 7:93,593,705...93,598,630

G

8-oxoguanine DNA glycosylase

ClinVar Annotator: match by term: Clear cell carcinoma of kidney

PMID:9681819 PMID:10987279 PMID:12172214 PMID:19537786 PMID:21195604 More...

NCBI chr 4:148,030,237...148,037,599
Ensembl chr 4:146,474,750...146,484,766

G

p21 (RAC1) activated kinase 4

disease_progression

RGD

NCBI chr 1:92,977,437...93,016,721
Ensembl chr 1:83,849,904...83,859,413

G

p21 (RAC1) activated kinase 6

disease_progression

RGD

NCBI chr 3:126,092,576...126,128,320
Ensembl chr 3:105,638,653...105,672,975

G

polybromo 1

ClinVar Annotator: match by term: Clear cell carcinoma of kidney

NCBI chr16:6,219,933...6,319,336
Ensembl chr16:6,213,300...6,311,780

G

platelet derived growth factor subunit B

disease_progression

RGD

PMID:25766258 PMID:23879920

RGD:13504817, RGD:13506650

NCBI chr 7:113,419,882...113,438,343
Ensembl chr 7:111,540,345...111,557,984

G

PML nuclear body scaffold

protein:decreased expression:kidney (human)

RGD

NCBI chr 8:67,523,164...67,557,801
Ensembl chr 8:58,628,837...58,658,971

G

pro-platelet basic protein

disease_progression
ameliorates

RGD

PMID:24335961 PMID:24335961

RGD:401794956, RGD:401794956

NCBI chr14:17,586,495...17,587,299
Ensembl chr14:17,302,326...17,303,130

G

SET domain containing 2, histone lysine methyltransferase

severity

DNA:SNPs,loss of heterozygosity:multiple (human)
DNA:mutations:multiple (human)

RGD

PMID:26864202 PMID:26891804

RGD:150429635, RGD:150429640

NCBI chr 8:119,390,207...119,475,863
Ensembl chr 8:110,511,772...110,597,489

G

SWI/SNF related BAF chromatin remodeling complex subunit B1

mRNA,protein:decreased expression:kidney:

RGD

NCBI chr20:12,740,105...12,763,054
Ensembl chr20:12,741,477...12,763,620

G

serine and arginine rich splicing factor 1

mRNA:altered expression:kidney (human)

RGD

NCBI chr10:73,335,519...73,342,549
Ensembl chr10:72,839,274...72,845,336

G

serine and arginine rich splicing factor 2

mRNA:altered expression:kidney (human)

RGD

NCBI chr10:102,550,962...102,554,200
Ensembl chr10:102,052,314...102,055,338

G

serine and arginine rich splicing factor 4

mRNA:altered expression:kidney (human)

RGD

NCBI chr 5:149,345,538...149,373,309
Ensembl chr 5:144,061,463...144,089,229

G

serine and arginine rich splicing factor 5

mRNA:altered expression:kidney (human)

RGD

NCBI chr 6:106,333,998...106,341,467
Ensembl chr 6:100,605,456...100,610,177

G

serine and arginine rich splicing factor 6

mRNA:altered expression:kidney (human)

RGD

NCBI chr 3:172,009,072...172,014,395
Ensembl chr 3:151,589,535...151,594,860

G

serine and arginine rich splicing factor 7

mRNA:altered expression:kidney (human)

RGD

NCBI chr 6:20,564,035...20,571,205
Ensembl chr 6:14,811,808...14,818,965

G

tumor protein p53

mRNA, protein:increased expression:kidney

RGD

NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524

G

vascular endothelial growth factor A

CTD Direct Evidence: marker/mechanism

NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:14,955,300...14,970,641

G

X-linked inhibitor of apoptosis

ameliorates

mRNA:increased expression:kidney (human)

NCBI chr X:125,756,107...125,803,979
Ensembl chr X:120,897,907...120,934,700

Denys-Drash syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

androgen receptor

protein:decreased expression:sertoli cell

RGD

NCBI chr X:67,135,317...67,304,476
Ensembl chr X:63,104,771...63,273,925

G

doublecortin domain containing 1, pseudogene 1

ClinVar Annotator: match by term: Drash syndrome

PMID:15150775 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 More...

NCBI chr 3:112,940,793...113,351,417
Ensembl chr 3:92,718,047...92,896,542

G

DnaJ heat shock protein family (Hsp40) member C24

ClinVar Annotator: match by term: Drash syndrome

PMID:15150775 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 More...

NCBI chr 3:92,450,631...92,486,004
Ensembl chr 3:92,450,639...92,485,901

G

elongator acetyltransferase complex subunit 4

ClinVar Annotator: match by term: Drash syndrome

PMID:15150775 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 More...

NCBI chr 3:112,617,020...112,839,963
Ensembl chr 3:92,162,280...92,385,243

G

inner mitochondrial membrane peptidase subunit 1

ClinVar Annotator: match by term: Drash syndrome

PMID:15150775 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 More...

NCBI chr 3:112,840,015...112,904,297
Ensembl chr 3:92,385,379...92,452,313

G

paired box 6

ClinVar Annotator: match by term: Drash syndrome

PMID:15150775 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 More...

NCBI chr 3:112,590,034...112,611,771
Ensembl chr 3:92,135,637...92,157,014

G

reticulocalbin 1

ClinVar Annotator: match by term: Drash syndrome

PMID:15150775 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 More...

NCBI chr 3:112,295,838...112,310,082
Ensembl chr 3:91,841,052...91,855,295

G

WT1 transcription factor

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 More...

NCBI chr 3:112,019,721...112,068,454
Ensembl chr 3:91,567,001...91,613,643

Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

dicer 1 ribonuclease III

ClinVar Annotator: match by term: GLOW SYNDROME | ClinVar Annotator: match by term: GLOW Syndrome

PMID:9536098 PMID:16199547 PMID:17576681 PMID:19556464 PMID:21205968 More...

NCBI chr 6:129,392,298...129,457,252
Ensembl chr 6:123,631,250...123,693,965

hereditary renal cell carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

deoxyribonuclease 1

ClinVar Annotator: match by term: Hereditary renal cell carcinoma

NCBI chr10:11,498,930...11,505,151
Ensembl chr10:11,498,931...11,501,869

G

epidermal growth factor

ClinVar Annotator: match by term: Hereditary renal cell carcinoma

NCBI chr 2:220,893,660...220,976,331
Ensembl chr 2:218,219,415...218,302,064

G

poly (ADP-ribose) polymerase 1

ClinVar Annotator: match by term: Hereditary renal cell carcinoma

NCBI chr13:94,839,484...94,871,295
Ensembl chr13:92,307,586...92,339,404

G

succinate dehydrogenase complex flavoprotein subunit A

ClinVar Annotator: match by term: Hereditary renal cell carcinoma

PMID:25741868 PMID:26467025 PMID:28492532 PMID:28546994 PMID:30680959 More...

NCBI chr 1:30,764,553...30,789,523
Ensembl chr 1:28,940,164...28,961,535

G

TNF receptor-associated protein 1

ClinVar Annotator: match by term: Hereditary renal cell carcinoma

NCBI chr10:11,971,259...12,005,306
Ensembl chr10:11,464,821...11,498,981

hereditary Wilms' tumor

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CTR9 homolog, Paf1/RNA polymerase II complex component

ClinVar Annotator: match by term: Predisposition to Wilms tumor, CTR9-related

PMID:25741868 PMID:28492532

NCBI chr 1:174,571,952...174,601,974
Ensembl chr 1:165,137,215...165,167,303

kidney angiomyolipoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

mechanistic target of rapamycin kinase

treatment

associated with Tuberous Sclerosis

RGD

NCBI chr 5:164,167,985...164,277,438
Ensembl chr 5:158,884,804...158,994,311

kidney cancer

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

fibroblast growth factor 9

ameliorates

human gene in mouse model

RGD

NCBI chr15:36,325,552...36,369,995
Ensembl chr15:32,210,074...32,253,309

G

PPARG coactivator 1 alpha

associated with Birt-Hogg-Dube Syndrome; mRNA:increased expression:kidney (human)

RGD

NCBI chr14:63,073,505...63,729,215
Ensembl chr14:58,861,144...59,512,656

Kidney Neoplasms

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily B member 1A

CTD Direct Evidence: marker/mechanism

NCBI chr 4:26,312,403...26,488,456
Ensembl chr 4:25,158,362...25,442,709

G

AKT serine/threonine kinase 1

clear cell sarcoma of kidney;protein:increased serine phosphorylation:kidney

RGD

NCBI chr 6:137,534,810...137,555,131
Ensembl chr 6:131,713,720...131,733,921

G

ATPase copper transporting beta

CTD Direct Evidence: marker/mechanism

NCBI chr16:76,654,725...76,726,092
Ensembl chr16:69,951,778...70,023,636

G

aurora kinase A

CTD Direct Evidence: marker/mechanism

NCBI chr 3:181,546,742...181,562,890
Ensembl chr 3:161,128,313...161,144,390

G

Axl receptor tyrosine kinase

CTD Direct Evidence: marker/mechanism

NCBI chr 1:90,392,864...90,424,123
Ensembl chr 1:81,265,088...81,296,265

G

BRCA1 associated deubiquitinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr16:6,453,126...6,461,952
Ensembl chr16:6,446,709...6,455,535

G

BCL6 co-repressor

CTD Direct Evidence: marker/mechanism

NCBI chr X:13,282,431...13,402,254
Ensembl chr X:10,687,732...10,729,613

G

baculoviral IAP repeat-containing 5

disease_progression

mRNA, protein:increased expression:kidney

RGD

NCBI chr10:103,567,369...103,580,069
Ensembl chr10:103,073,408...103,081,380

G

B-Raf proto-oncogene, serine/threonine kinase

CTD Direct Evidence: marker/mechanism

NCBI chr 4:69,329,772...69,476,931
Ensembl chr 4:68,384,649...68,510,463

G

cyclin D1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:209,518,288...209,527,986
Ensembl chr 1:200,089,002...200,098,602

G

cyclin-dependent kinase inhibitor 1B

CTD Direct Evidence: marker/mechanism

NCBI chr 4:169,491,273...169,496,500
Ensembl chr 4:167,760,181...167,764,982

G

cyclin-dependent kinase inhibitor 2A

protein:increased expression:kidney
DNA:loss of heterozygosity

RGD

PMID:17369505 PMID:11037653

RGD:2289679, RGD:2289689

NCBI chr 5:109,100,763...109,114,448
Ensembl chr 5:103,984,949...104,003,149

G

cyclin-dependent kinase inhibitor 2A, variant 1

protein:increased expression:kidney

RGD

G

checkpoint kinase 2

onset

protein:increased phosphorylation:kidney outer medulla outer stripe (rat)

RGD

NCBI chr12:51,448,838...51,481,159
Ensembl chr12:45,788,827...45,821,286

G

cytochrome P450, family 1, subfamily a, polypeptide 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:66,991,940...66,998,014
Ensembl chr 8:58,096,077...58,102,125

G

dynamin 3

CTD Direct Evidence: marker/mechanism

NCBI chr13:76,892,381...77,371,346
Ensembl chr13:74,359,213...74,838,108

G

eukaryotic translation initiation factor 4E binding protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr16:71,495,457...71,508,845
Ensembl chr16:64,790,226...64,805,984

G

enolase 2

RGD

NCBI chr 4:159,258,371...159,267,220
Ensembl chr 4:157,572,088...157,580,980

G

erb-b2 receptor tyrosine kinase 2

RGD

NCBI chr10:83,907,491...83,931,365
Ensembl chr10:83,411,313...83,435,078

G

establishment of sister chromatid cohesion N-acetyltransferase 2

CTD Direct Evidence: marker/mechanism

NCBI chr15:44,210,124...44,230,785
Ensembl chr15:40,034,568...40,055,306
Ensembl chr15:40,034,568...40,055,306

G

fidgetin-like 1

CTD Direct Evidence: marker/mechanism

NCBI chr14:90,573,090...90,595,342
Ensembl chr14:86,368,675...86,377,455

G

Fms related receptor tyrosine kinase 1

severity

RGD

NCBI chr12:12,333,050...12,504,750
Ensembl chr12:7,297,292...7,468,626

G

glutathione S-transferase mu 1

susceptibility

DNA:deletion

RGD

NCBI chr 2:198,338,005...198,346,007
Ensembl chr 2:195,649,845...195,655,411

G

glutathione S-transferase theta 1

susceptibility

DNA:deletion
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:20663906 PMID:17617661

NCBI chr20:12,856,068...12,873,020
Ensembl chr20:12,856,669...12,873,585

G

hepcidin antimicrobial peptide

CTD Direct Evidence: marker/mechanism

NCBI chr 1:95,298,332...95,300,271
Ensembl chr 1:86,170,901...86,172,891

G

helicase-like transcription factor

CTD Direct Evidence: marker/mechanism

NCBI chr 2:104,478,725...104,538,531
Ensembl chr 2:102,549,724...102,609,327

G

hematopoietic prostaglandin D synthase

CTD Direct Evidence: marker/mechanism

NCBI chr 4:95,698,265...95,727,733
Ensembl chr 4:94,373,342...94,397,883

G

intercellular adhesion molecule 1

protein:increased expression:serum:

RGD

NCBI chr 8:27,829,688...27,841,618
Ensembl chr 8:19,553,645...19,565,438

G

interleukin 2

CTD Direct Evidence: therapeutic

PMID:17105418 PMID:18298334 PMID:18625569 PMID:19409039

NCBI chr 2:121,932,968...121,937,672
Ensembl chr 2:120,004,862...120,009,566

G

integrin subunit beta 2

RGD

NCBI chr20:11,061,009...11,097,242
Ensembl chr20:11,061,430...11,097,600

G

kinase insert domain receptor

RGD

NCBI chr14:32,572,031...32,615,204
Ensembl chr14:32,217,871...32,261,018

G

KRAS proto-oncogene, GTPase

RGD

NCBI chr 4:179,916,255...179,949,613

G

kynurenine aminotransferase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:33,857,407...33,891,153
Ensembl chr 3:13,459,591...13,493,355

G

mitogen activated protein kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr11:97,462,025...97,529,193
Ensembl chr11:83,957,813...84,023,616

G

mitogen activated protein kinase 3

CTD Direct Evidence: marker/mechanism

NCBI chr 1:190,797,189...190,803,411
Ensembl chr 1:181,366,637...181,372,863

G

MET proto-oncogene, receptor tyrosine kinase

DNA:missense mutations:cds:multiple (human)

RGD

NCBI chr 4:46,756,823...46,864,041
Ensembl chr 4:45,790,791...45,897,876

G

matrix metallopeptidase 1

DNA:insertion:promoter:g.-1607insG (human)

RGD

NCBI chr 8:12,943,453...12,963,966
Ensembl chr 8:4,658,588...4,679,097

G

N-myc downstream regulated 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:100,573,526...100,614,902
Ensembl chr 7:98,684,487...98,725,880

G

plasminogen activator, urokinase

protein:decreased expression:kidney (human)

RGD

NCBI chr15:3,505,485...3,511,987
Ensembl chr15:3,456,232...3,462,775

G

prostaglandin-endoperoxide synthase 2

CTD Direct Evidence: marker/mechanism

NCBI chr13:64,714,063...64,722,320
Ensembl chr13:62,163,932...62,172,188

G

Raf-1 proto-oncogene, serine/threonine kinase

CTD Direct Evidence: marker/mechanism

NCBI chr 4:150,352,158...150,412,813
Ensembl chr 4:148,679,530...148,740,317

G

RAN binding protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr11:96,246,912...96,255,145
Ensembl chr11:82,742,600...82,750,838

G

Ras association domain family member 1

RGD

NCBI chr 8:117,103,665...117,114,805
Ensembl chr 8:108,225,023...108,236,164

G

Ras association domain family member 5

CTD Direct Evidence: marker/mechanism

NCBI chr13:42,637,513...42,703,024
Ensembl chr13:42,637,549...42,703,024

G

succinate dehydrogenase complex iron sulfur subunit B

ClinVar Annotator: match by term: Renal neoplasm

PMID:19261679 PMID:22241717 PMID:25720320 PMID:25741868 PMID:28179334 More...

NCBI chr 5:158,547,775...158,568,589
Ensembl chr 5:153,264,899...153,314,293

G

solute carrier family 22 member 1

mRNA:decreased expression:kidney

RGD

NCBI chr 1:50,624,339...50,651,437
Ensembl chr 1:48,076,666...48,103,678

G

solute carrier family 22 member 2

mRNA:decreased expression:kidney

RGD

NCBI chr 1:50,668,817...50,711,019
Ensembl chr 1:48,121,061...48,163,268

G

solute carrier family 22 member 3

mRNA:decreased expression:kidney

RGD

NCBI chr 1:50,783,218...50,872,358
Ensembl chr 1:48,235,476...48,324,612

G

solute carrier family 5 member 5

CTD Direct Evidence: therapeutic

NCBI chr16:18,580,705...18,590,692
Ensembl chr16:18,546,709...18,556,697

G

superoxide dismutase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:50,043,323...50,050,168
Ensembl chr 1:47,636,528...47,645,189

G

TIMP metallopeptidase inhibitor 3

DNA:hypermethylation:promoter

RGD

NCBI chr 7:19,408,539...19,459,558
Ensembl chr 7:17,521,919...17,571,839

G

TNF receptor superfamily member 10b

mRNA:decreased expression:kidney

RGD

NCBI chr15:51,249,883...51,278,091
Ensembl chr15:44,840,386...44,867,467

G

TNF receptor superfamily member 9

CTD Direct Evidence: marker/mechanism

NCBI chr 5:166,664,494...166,690,834
Ensembl chr 5:161,381,662...161,408,000

G

TNF superfamily member 10

CTD Direct Evidence: therapeutic

NCBI chr 2:112,136,550...112,155,903
Ensembl chr 2:110,207,916...110,225,135

G

DNA topoisomerase II alpha

disease_progression

RGD

NCBI chr10:84,441,954...84,473,093
Ensembl chr10:83,945,735...83,976,874

G

tryptophan hydroxylase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:97,157,375...97,178,415
Ensembl chr 1:97,157,409...97,178,344

G

tumor protein, translationally-controlled 1

CTD Direct Evidence: marker/mechanism

NCBI chr15:57,562,217...57,568,968
Ensembl chr15:51,146,154...51,159,625

G

TSC complex subunit 1

RGD

NCBI chr 3:32,367,434...32,416,565
Ensembl chr 3:11,979,729...12,015,674

G

TSC complex subunit 2

CTD Direct Evidence: marker/mechanism

PMID:11170505 PMID:12110509 PMID:21693435

NCBI chr10:14,125,679...14,160,317
Ensembl chr10:13,621,136...13,655,951

G

ubiquitin-conjugating enzyme E2T

CTD Direct Evidence: marker/mechanism

NCBI chr13:46,403,352...46,413,854
Ensembl chr13:46,403,375...46,414,835

G

VANGL planar cell polarity protein 2

RGD

NCBI chr13:86,995,124...87,021,770
Ensembl chr13:84,465,527...84,489,378

G

von Hippel-Lindau tumor suppressor

protein:decreased expression:kidney
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:11880179 PMID:11880179

NCBI chr 4:148,328,099...148,334,992
Ensembl chr 4:146,772,468...146,779,377

nephroblastoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily B member 1A

disease_progression

RGD

NCBI chr 4:26,312,403...26,488,456
Ensembl chr 4:25,158,362...25,442,709

G

APC membrane recruitment protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr X:64,310,492...64,326,377
Ensembl chr X:60,295,751...60,316,440

G

apolipoprotein C3

protein:increased expression:serum

RGD

NCBI chr 8:55,428,172...55,430,352
Ensembl chr 8:46,531,478...46,533,583

G

AT-rich interaction domain 1A

CTD Direct Evidence: marker/mechanism

NCBI chr 5:151,192,014...151,269,291
Ensembl chr 5:145,908,181...145,985,564

G

ASXL transcriptional regulator 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:162,273,828...162,341,742
Ensembl chr 3:141,813,433...141,881,538

G

Bcl2-like 1

disease_progression

RGD

NCBI chr 3:161,713,777...161,764,844
Ensembl chr 3:141,253,523...141,303,479
Ensembl chr 1:141,253,523...141,303,479

G

BCL6 co-repressor

CTD Direct Evidence: marker/mechanism

NCBI chr X:13,282,431...13,402,254
Ensembl chr X:10,687,732...10,729,613

G

BCL6 co-repressor-like 1

CTD Direct Evidence: marker/mechanism

NCBI chr X:132,394,703...132,462,414
Ensembl chr X:127,537,538...127,584,087

G

bone morphogenetic protein 7

mRNA:decreased expression:kidney

RGD

NCBI chr 3:182,059,318...182,135,273
Ensembl chr 3:161,516,462...161,716,788

G

B-Raf proto-oncogene, serine/threonine kinase

ClinVar Annotator: match by term: Wilms tumor

PMID:12068308 PMID:12198537 PMID:12447372 PMID:12619120 PMID:12644542 More...

NCBI chr 4:69,329,772...69,476,931
Ensembl chr 4:68,384,649...68,510,463

G

BRCA2, DNA repair associated

susceptibility

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

ClinVar
OMIM
CTD
RGD

PMID:186727 PMID:251866 PMID:278235 PMID:1772447 PMID:2200631 More...

NCBI chr12:4,895,092...4,939,340
Ensembl chr12:59,819...100,567

G

coiled-coil domain containing 160

ClinVar Annotator: match by term: Wilms tumor 1

PMID:10402475 PMID:12713262 PMID:17603795 PMID:21362501 PMID:28492532

NCBI chr X:132,468,141...132,478,616
Ensembl chr X:132,468,213...132,478,431

G

cyclin D2

RGD

NCBI chr 4:161,653,048...161,675,422
Ensembl chr 4:159,962,363...159,989,495

G

CD44 molecule

RGD

NCBI chr 3:109,610,824...109,699,776
Ensembl chr 3:89,157,058...89,244,620

G

cyclin-dependent kinase 15

mRNA:increased expression:kidney

RGD

NCBI chr 9:60,710,787...60,803,638
Ensembl chr 9:60,711,715...60,802,777

G

cyclin-dependent kinase 4

disease_progression

RGD

NCBI chr 7:64,771,453...64,774,891
Ensembl chr 7:62,883,105...62,942,403

G

cyclin-dependent kinase inhibitor 1B

disease_progression

RGD

NCBI chr 4:169,491,273...169,496,500
Ensembl chr 4:167,760,181...167,764,982

G

cyclin-dependent kinase inhibitor 2A

protein:increased expression:kidney

RGD

NCBI chr 5:109,100,763...109,114,448
Ensembl chr 5:103,984,949...104,003,149

G

cyclin-dependent kinase inhibitor 2A, variant 1

protein:increased expression:kidney

RGD

G

checkpoint kinase 2

ClinVar Annotator: match by term: Nephroblastoma

PMID:10617473 PMID:11719428 PMID:11967536 PMID:15492928 PMID:18759107 More...

NCBI chr12:51,448,838...51,481,159
Ensembl chr12:45,788,827...45,821,286

G

collagen type VI alpha 3 chain

CTD Direct Evidence: marker/mechanism

NCBI chr 9:98,809,171...98,887,060
Ensembl chr 9:91,361,583...91,439,471

G

catenin beta 1

protein:increased expression:kidney
ClinVar Annotator: match by term: Nephroblastoma
CTD Direct Evidence: marker/mechanism
DNA:mutations: :multiple

ClinVar
CTD
RGD

PMID:9065402 PMID:10435629 PMID:21237236 PMID:26822237 PMID:28825729 More...

RGD:2289833, RGD:2289834

NCBI chr 8:129,517,576...129,544,661
Ensembl chr 8:120,639,995...120,667,111

G

C-X-C motif chemokine receptor 2

RGD

NCBI chr 9:83,178,645...83,185,017
Ensembl chr 9:75,729,115...75,739,425

G

DGCR8 microprocessor complex subunit

CTD Direct Evidence: marker/mechanism

NCBI chr11:96,208,959...96,241,560
Ensembl chr11:82,704,729...82,737,242

G

dicer 1 ribonuclease III

CTD Direct Evidence: marker/mechanism

NCBI chr 6:129,392,298...129,457,252
Ensembl chr 6:123,631,250...123,693,965

G

DIS3-like 3'-5' exoribonuclease 2

DNA:missense mutations, deletions:multiple (human)

RGD

NCBI chr 9:94,802,056...95,184,523
Ensembl chr 9:87,356,457...87,736,616

G

drosha ribonuclease III

CTD Direct Evidence: marker/mechanism

NCBI chr 2:63,591,885...63,703,688
Ensembl chr 2:61,864,970...61,976,688

G

erb-b2 receptor tyrosine kinase 2

protein:increased expression:kidney

RGD

NCBI chr10:83,907,491...83,931,365
Ensembl chr10:83,411,313...83,435,078

G

Fms related receptor tyrosine kinase 1

severity

RGD

NCBI chr12:12,333,050...12,504,750
Ensembl chr12:7,297,292...7,468,626

G

frizzled class receptor 6

ClinVar Annotator: match by term: Nephroblastoma

NCBI chr 7:71,939,916...71,971,685
Ensembl chr 7:70,055,068...70,086,776

G

frizzled class receptor 7

mRNA:increased expression:kidney

NCBI chr 9:68,425,538...68,428,357
Ensembl chr 9:60,930,875...60,935,781

G

GLI pathogenesis-related 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:49,373,579...49,399,190
Ensembl chr 7:47,487,345...47,498,429

G

glypican 3

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 Annotator: match by term: Nephroblastoma | ClinVar Annotator: match by term: Wilms tumor 1 | ClinVar Annotator: match by term: Wilms tumor, somatic

OMIM
ClinVar
CTD

PMID:8589713 PMID:8958336 PMID:9192268 PMID:9536098 PMID:10402475 More...

NCBI chr X:136,789,770...137,157,598
Ensembl chr X:131,868,990...132,236,798

G

glypican 4

CTD Direct Evidence: marker/mechanism

NCBI chr X:136,565,536...136,676,142
Ensembl chr X:131,644,704...131,755,284

G

H19 imprinted maternally expressed transcript

susceptibility

associated with Beckwith-Wiedemann Syndrome;DNA:hypermethylation
CTD Direct Evidence: marker/mechanism

CTD
RGD

NCBI chr 1:197,730,698...197,733,374
Ensembl chr 1:197,730,698...197,733,134

G

hypoxia inducible factor 1 subunit alpha

severity

protein:increased expression:kidney

RGD

NCBI chr 6:98,357,788...98,405,068
Ensembl chr 6:92,624,390...92,669,261

G

hypoxanthine phosphoribosyltransferase 1

ClinVar Annotator: match by term: Wilms tumor 1

PMID:10402475 PMID:12713262 PMID:17603795 PMID:21362501 PMID:28492532

NCBI chr X:137,655,744...137,687,718
Ensembl chr X:132,736,096...132,768,154

G

insulin-like growth factor 1 receptor

treatment

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 1:130,959,787...131,248,664
Ensembl chr 1:121,550,743...121,831,777

G

insulin-like growth factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:207,243,873...207,261,263
Ensembl chr 1:197,814,410...197,823,018

G

insulin-like growth factor 2 receptor

RGD

NCBI chr 1:50,526,878...50,615,265
Ensembl chr 1:47,979,109...48,067,501

G

junction plakoglobin

disease_progression

RGD

NCBI chr10:85,800,812...85,827,881
Ensembl chr10:85,300,440...85,327,057

G

lysine demethylase 4D

mRNA:increased expression:kidney (human)

RGD

NCBI chr 8:11,279,756...11,304,920
Ensembl chr 8:11,268,859...11,305,290

G

KIT proto-oncogene receptor tyrosine kinase

disease_progression

RGD

NCBI chr14:32,901,615...32,978,895
Ensembl chr14:32,548,877...32,624,652

G

lin-28 homolog A

OMIM:194070

NCBI chr 5:151,510,891...151,527,884
Ensembl chr 5:146,227,119...146,244,122

G

mitogen activated protein kinase kinase kinase 4

CTD Direct Evidence: marker/mechanism

NCBI chr 1:50,977,870...51,067,117
Ensembl chr 1:48,431,830...48,519,358

G

MYC associated factor X

CTD Direct Evidence: marker/mechanism

NCBI chr 6:101,369,989...101,395,333
Ensembl chr 6:95,636,858...95,662,137

G

mediator complex subunit 12

ClinVar Annotator: match by term: Nephroblastoma | ClinVar Annotator: match by term: Wilms tumor, somatic

PMID:25741868 PMID:26822237

NCBI chr X:66,404,807...66,427,775
Ensembl chr X:66,404,760...66,428,387

G

microRNA 106a

ClinVar Annotator: match by term: Wilms tumor 1

PMID:10402475 PMID:12713262 PMID:17603795 PMID:21362501 PMID:28492532

NCBI chr X:137,343,570...137,343,647
Ensembl chr X:132,422,584...132,422,661

G

microRNA 19b-2

ClinVar Annotator: match by term: Wilms tumor 1

PMID:10402475 PMID:12713262 PMID:17603795 PMID:21362501 PMID:28492532

NCBI chr X:137,343,058...137,343,153
Ensembl chr X:132,422,072...132,422,167

G

MLLT1, super elongation complex subunit

CTD Direct Evidence: marker/mechanism

NCBI chr 9:1,731,077...1,775,985
Ensembl chr 9:1,731,080...1,775,970

G

methylenetetrahydrofolate reductase

susceptibility

DNA:transition:cds:g.677C>T (human)

RGD

NCBI chr 5:163,748,346...163,768,141
Ensembl chr 5:158,465,296...158,483,797

G

MYC proto-oncogene, bHLH transcription factor

severity

protein:increased expression:kidney (mouse)
mRNA:decreased expression:tumor (human)

RGD

PMID:21983638 PMID:18260125

RGD:7207786, RGD:7207840

NCBI chr 7:95,483,105...95,488,031
Ensembl chr 7:93,593,705...93,598,630

G

MYCN proto-oncogene, bHLH transcription factor

CTD Direct Evidence: marker/mechanism

NCBI chr 6:41,446,683...41,452,584
Ensembl chr 6:35,717,764...35,723,590

G

non-POU domain containing, octamer-binding

CTD Direct Evidence: marker/mechanism

NCBI chr X:70,594,116...70,611,976
Ensembl chr X:66,554,098...66,571,952

G

p21 (RAC1) activated kinase 1

mRNA:increased expression:kidney

RGD

NCBI chr 1:161,522,399...161,637,623
Ensembl chr 1:152,111,188...152,226,383

G

paired box 2

mRNA:increased expression:kidney

RGD

PMID:12057921 PMID:7937920

RGD:2316755, RGD:2316757

NCBI chr 1:253,555,447...253,646,623
Ensembl chr 1:243,616,606...243,695,321

G

proliferating cell nuclear antigen

disease_progression

RGD

NCBI chr 3:139,951,948...139,955,820
Ensembl chr 3:119,498,810...119,502,995

G

PHD finger protein 6

ClinVar Annotator: match by term: Wilms tumor 1

PMID:10402475 PMID:12713262 PMID:17603795 PMID:21362501 PMID:28492532

NCBI chr X:137,576,214...137,619,297
Ensembl chr X:132,656,672...132,699,127

G

prostaglandin-endoperoxide synthase 2

protein:increased expression:kidney

RGD

NCBI chr13:64,714,063...64,722,320
Ensembl chr13:62,163,932...62,172,188

G

RE1-silencing transcription factor

CTD Direct Evidence: marker/mechanism

NCBI chr14:31,213,415...31,233,451
Ensembl chr14:30,862,553...30,894,354

G

serpin family F member 1

protein:decreased expression:kidney

RGD

NCBI chr10:60,748,504...60,760,898
Ensembl chr10:60,249,708...60,262,646

G

SIX homeobox 1

severity

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 6:97,482,617...97,487,853
Ensembl chr 6:91,746,739...91,751,975

G

SIX homeobox 2

CTD Direct Evidence: marker/mechanism

NCBI chr 6:14,727,756...14,734,219
Ensembl chr 6:8,967,157...8,981,193

G

solute carrier family 2 member 1

severity

RGD

NCBI chr 5:138,002,522...138,030,742
Ensembl chr 5:132,717,196...132,745,416

G

SMAD family member 4

ClinVar Annotator: match by term: Nephroblastoma

PMID:25741868 PMID:28492532

NCBI chr18:69,518,988...69,549,684
Ensembl chr18:67,243,742...67,274,438

G

signal transducer and activator of transcription 1

protein:increased serine phosphorylation:kidney

RGD

NCBI chr 9:56,911,522...56,951,926
Ensembl chr 9:49,419,340...49,588,540

G

signal transducer and activator of transcription 3

disease_progression

protein:increased expression:kidney

RGD

NCBI chr10:86,311,528...86,363,513
Ensembl chr10:85,811,218...85,863,057

G

telomerase RNA component

disease_progression

RGD

NCBI chr 2:112,815,654...112,816,041

G

telomerase reverse transcriptase

disease_progression

RGD

NCBI chr 1:31,465,766...31,488,650
Ensembl chr 1:29,637,506...29,659,561

G

tet methylcytosine dioxygenase 2

ClinVar Annotator: match by term: Nephroblastoma

NCBI chr 2:224,662,654...224,746,819
Ensembl chr 2:221,988,645...222,072,534

G

TIMP metallopeptidase inhibitor 4

RGD

NCBI chr 4:149,978,667...149,985,350
Ensembl chr 4:148,304,490...148,312,558

G

DNA topoisomerase II alpha

mRNA:increased expression:kidney

RGD

PMID:12438255 PMID:16556665

RGD:2315132, RGD:2315131

NCBI chr10:84,441,954...84,473,093
Ensembl chr10:83,945,735...83,976,874

G

tumor protein p53

CTD Direct Evidence: marker/mechanism

NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524

G

tumor protein p73

DNA:loss of heterozygosity:kidney

RGD

NCBI chr 5:169,903,801...169,988,075
Ensembl chr 5:164,621,377...164,681,128

G

tripartite motif-containing 28

ClinVar Annotator: match by term: Nephroblastoma | ClinVar Annotator: match by term: Wilms tumor 1

PMID:25741868 PMID:28492532 PMID:32699065

NCBI chr 1:82,724,842...82,731,566
Ensembl chr 1:73,652,709...73,659,380

G

thyroid hormone receptor interactor 13

CTD Direct Evidence: marker/mechanism

NCBI chr 1:31,185,700...31,230,638
Ensembl chr 1:29,357,130...29,402,074

G

vascular endothelial growth factor C

disease_progression

RGD

NCBI chr16:44,445,293...44,560,887
Ensembl chr16:37,712,262...37,827,848

G

von Hippel-Lindau tumor suppressor

protein:decreased expression:kidney
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:11880179 PMID:11880179

NCBI chr 4:148,328,099...148,334,992
Ensembl chr 4:146,772,468...146,779,377

G

Wnt inhibitory factor 1

mRNA:increased expression:kidney

RGD

NCBI chr 7:58,433,326...58,503,853
Ensembl chr 7:56,548,053...56,618,360

G

WT1 transcription factor

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 More...

RGD:2315545, RGD:1331525, RGD:2315544

NCBI chr 3:112,019,721...112,068,454
Ensembl chr 3:91,567,001...91,613,643

G

exportin 5

CTD Direct Evidence: marker/mechanism

NCBI chr 9:22,237,760...22,275,745
Ensembl chr 9:14,740,182...14,778,171

nephroma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

dicer 1 ribonuclease III

DNA:mutations: :

RGD

NCBI chr 6:129,392,298...129,457,252
Ensembl chr 6:123,631,250...123,693,965

nonpapillary renal cell carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

calcium/calmodulin-dependent protein kinase I

ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma

NCBI chr 4:148,036,843...148,047,675
Ensembl chr 4:146,481,196...146,492,081

G

folliculin

OMIM:144700
ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma

MouseDO
ClinVar

PMID:9536098 PMID:12204536 PMID:12471204 PMID:15805188 PMID:15852235 More...

NCBI chr10:45,088,164...45,107,581
Ensembl chr10:44,588,624...44,607,769

G

HNF1 homeobox A

ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma

PMID:8945470 PMID:9075818 PMID:9112026 PMID:9133564 PMID:9287053 More...

NCBI chr12:47,299,171...47,333,457
Ensembl chr12:41,645,587...41,672,104

G

HNF1 homeobox B

ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma

PMID:9398836 PMID:12148114 PMID:14583183 PMID:15068978 PMID:15660195 More...

NCBI chr10:69,233,377...69,287,360
Ensembl chr10:68,735,894...68,789,888

G

8-oxoguanine DNA glycosylase

ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma

NCBI chr 4:148,030,237...148,037,599
Ensembl chr 4:146,474,750...146,484,766

G

von Hippel-Lindau tumor suppressor

ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma

PMID:8956040 PMID:9058738 PMID:9399847 PMID:9536098 PMID:9671762 More...

NCBI chr 4:148,328,099...148,334,992
Ensembl chr 4:146,772,468...146,779,377

papillary renal cell carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

baculoviral IAP repeat-containing 3

exacerbates

mRNA:increased expression:kidney (human)

NCBI chr 8:13,285,702...13,313,329
Ensembl chr 8:5,000,845...5,015,802

G

baculoviral IAP repeat-containing 5

disease_progression

mRNA:increased expression:kidney (human)

NCBI chr10:103,567,369...103,580,069
Ensembl chr10:103,073,408...103,081,380

G

B-Raf proto-oncogene, serine/threonine kinase

ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic | ClinVar Annotator: match by term: Renal cell carcinoma, papillary, 1

PMID:12068308 PMID:12198537 PMID:12447372 PMID:12460918 PMID:12460919 More...

NCBI chr 4:69,329,772...69,476,931
Ensembl chr 4:68,384,649...68,510,463

G

HRas proto-oncogene, GTPase

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

PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 More...

NCBI chr 1:205,712,625...205,729,406
Ensembl chr 1:196,296,263...196,300,615

G

leucine rich repeat containing 56

ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic

PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 More...

NCBI chr 1:205,729,402...205,744,754
Ensembl chr 1:196,299,846...196,315,172

G

MET proto-oncogene, receptor tyrosine kinase

ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic | ClinVar Annotator: match by term: Renal cell carcinoma, papillary, 1

PMID:1104268 PMID:9140397 PMID:9326629 PMID:9536098 PMID:9563489 More...

NCBI chr 4:46,756,823...46,864,041
Ensembl chr 4:45,790,791...45,897,876

G

microRNA 210

miRNA:increased expression:kidney (human)

RGD

NCBI chr 1:205,755,923...205,756,032
Ensembl chr 1:196,326,337...196,326,454

G

proline rich mitotic checkpoint control factor

NCBI chr 2:173,326,261...173,351,799
Ensembl chr 2:173,326,259...173,351,825

G

von Hippel-Lindau tumor suppressor

ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic | ClinVar Annotator: match by term: Renal cell carcinoma, papillary, 1

PMID:7660122 PMID:7728151 PMID:7784063 PMID:7987306 PMID:7987327 More...

NCBI chr 4:148,328,099...148,334,992
Ensembl chr 4:146,772,468...146,779,377

G

X-linked inhibitor of apoptosis

exacerbates

mRNA:increased expression:kidney (human)

NCBI chr X:125,756,107...125,803,979
Ensembl chr X:120,897,907...120,934,700

Perlman syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

alkaline phosphatase, germ cell

ClinVar Annotator: match by term: Perlman syndrome

NCBI chr 9:95,187,995...95,205,127
Ensembl chr 9:87,753,648...87,757,836

G

alkaline phosphatase, intestinal

ClinVar Annotator: match by term: Perlman syndrome

NCBI chr 9:95,221,314...95,224,780
Ensembl chr 9:87,773,411...87,776,877

G

alkaline phosphatase, placental

ClinVar Annotator: match by term: Perlman syndrome

NCBI chr 9:95,213,763...95,216,509
Ensembl chr 9:87,765,860...87,768,606

G

armadillo repeat containing 9

ClinVar Annotator: match by term: Perlman syndrome

NCBI chr 9:94,250,492...94,376,589
Ensembl chr 9:86,802,868...86,928,860

G

autophagy related 16-like 1

ClinVar Annotator: match by term: Perlman syndrome

NCBI chr 9:95,869,839...95,905,354
Ensembl chr 9:88,422,038...88,457,529

G

UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7

ClinVar Annotator: match by term: Perlman syndrome

NCBI chr 9:86,956,220...86,960,171
Ensembl chr 9:86,956,220...86,960,170

G

similar to human chromosome 2 open reading frame 72

ClinVar Annotator: match by term: Perlman syndrome

NCBI chr 9:86,691,767...86,699,920
Ensembl chr 9:86,691,867...86,698,185

G

calcium binding protein 39

ClinVar Annotator: match by term: Perlman syndrome

NCBI chr 9:93,911,099...93,972,542
Ensembl chr 9:86,463,095...86,524,544

G

cholinergic receptor nicotinic delta subunit

ClinVar Annotator: match by term: Perlman syndrome

NCBI chr 9:87,862,417...87,870,833
Ensembl chr 9:87,862,407...87,870,833

G

cholinergic receptor nicotinic gamma subunit

ClinVar Annotator: match by term: Perlman syndrome

NCBI chr 9:87,878,085...87,884,193
Ensembl chr 9:87,878,085...87,914,482

G

COP9 signalosome subunit 7B

ClinVar Annotator: match by term: Perlman syndrome

NCBI chr 9:87,238,132...87,263,967
Ensembl chr 9:87,238,375...87,263,967

G

CTR9 homolog, Paf1/RNA polymerase II complex component

ClinVar Annotator: match by term: Predisposition to Wilms tumor

PMID:9536098 PMID:17576681 PMID:25099282 PMID:28492532

NCBI chr 1:174,571,952...174,601,974
Ensembl chr 1:165,137,215...165,167,303

G

diacylglycerol kinase, delta

ClinVar Annotator: match by term: Perlman syndrome

NCBI chr 9:95,964,507...96,055,160
Ensembl chr 9:88,516,715...88,607,345

G

DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease

ClinVar Annotator: match by term: Perlman syndrome

NCBI chr15:82,231,922...82,258,299
Ensembl chr15:75,823,436...75,850,642

G

DIS3-like 3'-5' exoribonuclease 2

ClinVar Annotator: match by term: DIS3L2-related condition | 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 More...

NCBI chr 9:94,802,056...95,184,523
Ensembl chr 9:87,356,457...87,736,616

G

DnaJ heat shock protein family (Hsp40) member B3

ClinVar Annotator: match by term: Perlman syndrome

NCBI chr 9:96,243,345...96,244,358
Ensembl chr 9:88,795,488...88,796,560

G

endothelin converting enzyme-like 1

ClinVar Annotator: match by term: Perlman syndrome

NCBI chr 9:95,267,417...95,276,508
Ensembl chr 9:87,816,718...87,826,675

G

EF-hand domain family, member D1

ClinVar Annotator: match by term: Perlman syndrome

NCBI chr 9:95,386,155...95,432,800
Ensembl chr 9:87,938,284...87,984,917

G

eukaryotic translation initiation factor 4E family member 2

ClinVar Annotator: match by term: Perlman syndrome

NCBI chr 9:95,333,439...95,362,366
Ensembl chr 9:87,878,085...87,914,482

G

GRB10 interacting GYF protein 2

ClinVar Annotator: match by term: Perlman syndrome

NCBI chr 9:95,449,143...95,574,927
Ensembl chr 9:88,001,301...88,125,715

G

G protein-coupled receptor 55

ClinVar Annotator: match by term: Perlman syndrome

NCBI chr 9:94,037,748...94,081,426
Ensembl chr 9:86,590,885...86,640,613

G

Holliday junction recognition protein

ClinVar Annotator: match by term: Perlman syndrome

NCBI chr 9:88,853,379...88,867,730
Ensembl chr 9:88,853,386...88,867,728

G

5-hydroxytryptamine receptor 2B

ClinVar Annotator: match by term: Perlman syndrome

NCBI chr 9:94,184,442...94,206,851
Ensembl chr 9:86,742,102...86,755,108

G

integral membrane protein 2C

ClinVar Annotator: match by term: Perlman syndrome

NCBI chr 9:86,545,927...86,559,745
Ensembl chr 9:86,545,921...86,559,742

G

potassium inwardly-rectifying channel, subfamily J, member 13

ClinVar Annotator: match by term: Perlman syndrome

NCBI chr 9:88,063,003...88,071,112
Ensembl chr 9:88,063,003...88,071,112

G

maestro heat-like repeat family member 2A

ClinVar Annotator: match by term: Perlman syndrome

NCBI chr 9:88,814,515...88,862,346
Ensembl chr 9:88,814,197...88,852,607

G

nucleolin

ClinVar Annotator: match by term: Perlman syndrome

NCBI chr 9:94,447,559...94,456,083
Ensembl chr 9:86,998,019...87,008,136

G

neuraminidase 2

ClinVar Annotator: match by term: Perlman syndrome

NCBI chr 9:95,666,338...95,715,209
Ensembl chr 9:88,249,135...88,267,355

G

neuronal guanine nucleotide exchange factor

ClinVar Annotator: match by term: Perlman syndrome

NCBI chr 9:88,146,956...88,244,454
Ensembl chr 9:88,146,956...88,244,914

G

neuromedin U receptor 1

ClinVar Annotator: match by term: Perlman syndrome

NCBI chr 9:87,033,231...87,038,070
Ensembl chr 9:87,033,279...87,036,684

G

natriuretic peptide C

ClinVar Annotator: match by term: Perlman syndrome

NCBI chr 9:94,767,986...94,772,186
Ensembl chr 9:87,320,051...87,324,251

G

phosphodiesterase 6D

ClinVar Annotator: match by term: Perlman syndrome

NCBI chr 9:94,640,932...94,685,918
Ensembl chr 9:87,192,983...87,237,969

G

serine protease 56

ClinVar Annotator: match by term: Perlman syndrome

NCBI chr 9:87,842,806...87,859,978
Ensembl chr 9:87,854,805...87,859,978

G

proteasome 26S subunit, non-ATPase 1

ClinVar Annotator: match by term: Perlman syndrome

NCBI chr 9:94,157,971...94,233,218
Ensembl chr 9:86,709,947...86,785,211

G

prothymosin alpha

ClinVar Annotator: match by term: Perlman syndrome

NCBI chr 9:94,624,194...94,628,276
Ensembl chr 9:87,176,230...87,180,333

G

S-antigen visual arrestin

ClinVar Annotator: match by term: Perlman syndrome

NCBI chr 9:88,467,797...88,508,821
Ensembl chr 9:88,469,376...88,508,820

G

secondary ossification center associated regulator of chondrocyte maturation

ClinVar Annotator: match by term: Perlman syndrome

NCBI chr 9:88,140,510...88,145,527
Ensembl chr 9:88,140,419...88,145,891

G

small nucleolar RNA, C/D box 20

ClinVar Annotator: match by term: Perlman syndrome

NCBI chr 9:87,001,068...87,001,147
Ensembl chr 9:87,001,068...87,001,147

G

small nucleolar RNA, C/D box 82

ClinVar Annotator: match by term: Perlman syndrome

NCBI chr 9:87,004,515...87,004,586
Ensembl chr 9:87,004,515...87,004,586

G

SP100 nuclear antigen

ClinVar Annotator: match by term: Perlman syndrome

NCBI chr 9:93,758,975...93,825,068
Ensembl chr 9:86,311,032...86,377,034

G

SP110 nuclear body protein

ClinVar Annotator: match by term: Perlman syndrome

NCBI chr 9:93,648,574...93,673,476
Ensembl chr 9:86,200,503...86,222,670

G

SP140 nuclear body protein

ClinVar Annotator: match by term: Perlman syndrome

NCBI chr 9:86,224,472...86,274,724
Ensembl chr 9:86,224,513...86,274,542

G

spermatogenesis associated 3

ClinVar Annotator: match by term: Perlman syndrome

NCBI chr 9:86,660,352...86,672,272
Ensembl chr 9:86,659,784...86,672,272

G

secreted phosphoprotein 2

ClinVar Annotator: match by term: Perlman syndrome

NCBI chr 9:96,454,636...96,474,453
Ensembl chr 9:89,007,175...89,026,688

G

testis expressed 44

ClinVar Annotator: match by term: Perlman syndrome

NCBI chr 9:87,075,684...87,077,102
Ensembl chr 9:87,075,684...87,077,102

G

transient receptor potential cation channel, subfamily M, member 8

ClinVar Annotator: match by term: Perlman syndrome

NCBI chr 9:96,315,567...96,437,959
Ensembl chr 9:88,903,880...88,988,552

G

UDP glucuronosyltransferase family 1 member A1

ClinVar Annotator: match by term: Perlman syndrome

NCBI chr 9:96,249,143...96,256,264
Ensembl chr 9:88,713,184...88,808,465

G

UDP glucuronosyltransferase 1 family, polypeptide A2

ClinVar Annotator: match by term: Perlman syndrome

NCBI chr 9:96,239,019...96,256,264
Ensembl chr 9:88,713,184...88,808,465

G

UDP glycosyltransferase 1 family, polypeptide A3

ClinVar Annotator: match by term: Perlman syndrome

NCBI chr 9:96,228,134...96,256,264
Ensembl chr 9:88,713,184...88,808,465

G

UDP glucuronosyltransferase family 1 member A5

ClinVar Annotator: match by term: Perlman syndrome

NCBI chr 9:96,210,053...96,256,264
Ensembl chr 9:88,713,184...88,808,465

G

UDP glucuronosyltransferase family 1 member A6

ClinVar Annotator: match by term: Perlman syndrome

NCBI chr 9:96,195,018...96,256,264
Ensembl chr 9:88,713,184...88,808,465

G

UDP glucuronosyltransferase family 1 member A9

ClinVar Annotator: match by term: Perlman syndrome

NCBI chr 9:96,144,786...96,256,264
Ensembl chr 9:88,713,184...88,808,465

G

ubiquitin specific peptidase 40

ClinVar Annotator: match by term: Perlman syndrome

NCBI chr 9:96,055,741...96,126,766
Ensembl chr 9:88,607,930...88,678,914

renal adenoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATPase copper transporting beta

RGD

NCBI chr16:76,654,725...76,726,092
Ensembl chr16:69,951,778...70,023,636

G

ATPase copper transporting beta; hepatitis

RGD

renal carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

FOS like 1, AP-1 transcription factor subunit

mRNA:increased expression:kidney

RGD

NCBI chr 1:212,183,885...212,192,391
Ensembl chr 1:202,754,529...202,764,930

G

FOS like 2, AP-1 transcription factor subunit

mRNA:increased expression:kidney

RGD

NCBI chr 6:30,017,952...30,039,269
Ensembl chr 6:24,300,956...24,320,034

G

Jun proto-oncogene, AP-1 transcription factor subunit

mRNA:increased expression:kidney

RGD

NCBI chr 5:115,009,900...115,012,993
Ensembl chr 5:109,893,145...109,897,656

G

JunB proto-oncogene, AP-1 transcription factor subunit

mRNA:increased expression:kidney

RGD

NCBI chr19:40,081,126...40,082,910
Ensembl chr19:23,176,294...23,178,035

G

JunD proto-oncogene, AP-1 transcription factor subunit

mRNA:increased expression:kidney

RGD

NCBI chr16:18,768,093...18,769,771
Ensembl chr16:18,734,122...18,735,799

G

LETM1 domain containing 1

mRNA, protein:increased expression:kidney

RGD

NCBI chr 7:133,461,920...133,476,592
Ensembl chr 7:131,584,259...131,597,796

G

microcephalin 1

protein:decreased expression:kidney (human)

RGD

NCBI chr16:77,724,251...77,926,773
Ensembl chr16:71,024,588...71,224,122

G

mechanistic target of rapamycin kinase

ClinVar Annotator: match by term: Kidney Carcinoma

PMID:17360675 PMID:24631838 PMID:26018084 PMID:27159400 PMID:27482884 More...

NCBI chr 5:164,167,985...164,277,438
Ensembl chr 5:158,884,804...158,994,311

renal cell carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily B member 1A

disease_progression

DNA:polymorphism: :3435C>T (human)

RGD

PMID:17177989 PMID:12089380

RGD:2315557, RGD:2315559

NCBI chr 4:26,312,403...26,488,456
Ensembl chr 4:25,158,362...25,442,709

G

ATP binding cassette subfamily G member 2

susceptibility

DNA:polymorphism: :p.Q141K (human)

RGD

NCBI chr 4:89,006,056...89,132,915
Ensembl chr 4:87,745,319...87,802,409

G

acetylcholinesterase

CTD Direct Evidence: marker/mechanism

NCBI chr12:25,042,882...25,050,608
Ensembl chr12:19,407,360...19,413,651

G

aminoacylase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:115,951,068...115,956,471
Ensembl chr 8:107,072,358...107,077,682

G

adhesion G protein-coupled receptor B1

severity

RGD

NCBI chr 7:108,293,681...108,365,892
Ensembl chr 7:106,404,958...106,476,902

G

adiponectin, C1Q and collagen domain containing

CTD Direct Evidence: marker/mechanism

NCBI chr11:91,226,524...91,240,244
Ensembl chr11:77,721,912...77,735,564

G

alpha-fetoprotein

RGD

NCBI chr14:17,857,584...17,875,645
Ensembl chr14:17,573,412...17,591,480

G

angiotensin II receptor, type 1a

severity

protein:increased expression:kidney

RGD

NCBI chr17:34,383,397...34,435,523
Ensembl chr17:34,174,429...34,226,946

G

angiotensin II receptor, type 2

disease_progression

protein:increased expression:kidney

RGD

NCBI chr X:116,914,320...116,918,504
Ensembl chr X:112,120,228...112,124,057

G

AHNAK nucleoprotein

CTD Direct Evidence: marker/mechanism

NCBI chr 1:215,311,289...215,400,010
Ensembl chr 1:205,882,273...205,970,926

G

A-kinase anchoring protein 13

CTD Direct Evidence: marker/mechanism

NCBI chr 1:138,722,445...139,029,401
Ensembl chr 1:129,314,402...129,619,646

G

AKT serine/threonine kinase 1

protein:increased serine phosphorylation:kidney

RGD

NCBI chr 6:137,534,810...137,555,131
Ensembl chr 6:131,713,720...131,733,921

G

AKT serine/threonine kinase 3

susceptibility

DNA:missense mutation:exon, intron:multiple

RGD

NCBI chr13:91,475,839...91,758,060
Ensembl chr13:88,946,091...89,225,708

G

aminolevulinate dehydratase

CTD Direct Evidence: marker/mechanism

NCBI chr 5:80,977,562...80,987,901
Ensembl chr 5:75,961,993...75,972,474

G

aldehyde dehydrogenase 1 family, member A1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:227,426,939...227,579,497
Ensembl chr 1:218,042,127...218,152,961

G

ALK receptor tyrosine kinase

CTD Direct Evidence: marker/mechanism

NCBI chr 6:28,631,431...29,351,321
Ensembl chr 6:22,880,625...23,598,034

G

arachidonate 12-lipoxygenase, 12S type

protein:increased expression:kidney

RGD

NCBI chr10:55,456,923...55,469,239
Ensembl chr10:54,958,271...54,970,542

G

arachidonate 12-lipoxygenase, 12R type

CTD Direct Evidence: marker/mechanism

NCBI chr10:54,361,898...54,373,776
Ensembl chr10:53,863,060...53,874,938

G

arachidonate 5-lipoxygenase

CTD Direct Evidence: marker/mechanism

NCBI chr 4:151,203,948...151,251,126
Ensembl chr 4:149,531,515...149,578,743

G

alpha-methylacyl-CoA racemase

RGD

NCBI chr 2:61,673,291...61,685,381
Ensembl chr 2:59,946,153...59,958,255

G

angiogenin

protein:increased expression:serum

RGD

NCBI chr15:26,786,233...26,796,883

G

angiopoietin 1

severity

mRNA:altered expression:kidney

RGD

NCBI chr 7:75,415,959...75,668,696
Ensembl chr 7:73,531,486...73,784,067

G

annexin A1

RGD

NCBI chr 1:227,287,713...227,306,739
Ensembl chr 1:217,861,175...217,877,343

G

annexin A2

RGD

NCBI chr 8:78,986,252...79,022,638
Ensembl chr 8:70,105,253...70,141,658

G

annexin A4

CTD Direct Evidence: marker/mechanism

NCBI chr 4:120,741,750...120,798,534
Ensembl chr 4:119,184,374...119,241,161

G

adaptor related protein complex 5 subunit mu 1

CTD Direct Evidence: marker/mechanism

NCBI chr15:22,355,478...22,385,222
Ensembl chr15:22,355,500...22,377,750

G

apoptotic peptidase activating factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:27,381,392...27,466,772
Ensembl chr 7:25,494,609...25,579,540

G

APC regulator of WNT signaling pathway

onset
disease_progression
severity

DNA,protein:LOH,decreased expression: :
DNA:LOH: :

RGD

PMID:16116480 PMID:10426194 PMID:15203750

RGD:7242056, RGD:7242060, RGD:7242059

NCBI chr18:26,138,382...26,196,021
Ensembl chr18:25,864,222...25,922,696

G

adenine phosphoribosyl transferase

CTD Direct Evidence: marker/mechanism

NCBI chr19:67,534,737...67,537,027
Ensembl chr19:50,626,202...50,628,431

G

aryl hydrocarbon receptor nuclear translocator

treatment

DNA:missense mutation: :pF446L (human)

RGD

NCBI chr 2:185,686,703...185,745,546
Ensembl chr 2:182,997,736...183,056,580

G

ankyrin repeat and SOCS box containing 15

CTD Direct Evidence: marker/mechanism

NCBI chr 4:53,021,553...53,050,846
Ensembl chr 4:53,031,692...53,049,928

G

ankyrin repeat, SAM and basic leucine zipper domain containing 1

ClinVar Annotator: match by term: Renal adenocarcinoma | ClinVar Annotator: match by term: Renal cell carcinoma | ClinVar Annotator: match by term: Renal cell carcinoma, somatic

NCBI chr 4:47,366,373...47,421,976
Ensembl chr 4:46,400,485...46,456,085

G

ATM serine/threonine kinase

ClinVar Annotator: match by term: Renal adenocarcinoma

NCBI chr 8:62,724,939...62,829,040
Ensembl chr 8:53,831,093...53,932,437

G

ATP synthase membrane subunit c locus 2

DNA:hypermethylation:promoter

RGD

NCBI chr 7:133,791,341...133,799,713
Ensembl chr 7:133,791,342...133,799,733

G

aurora kinase A

mRNA, protein:increased expression:kidney

RGD

NCBI chr 3:181,546,742...181,562,890
Ensembl chr 3:161,128,313...161,144,390

G

BCL2-associated agonist of cell death

RGD

NCBI chr 1:213,562,719...213,572,034
Ensembl chr 1:204,131,501...204,142,823

G

BCL2-antagonist/killer 1

severity

RGD

NCBI chr20:5,102,334...5,111,615
Ensembl chr20:5,100,480...5,109,264

G

BRCA1 associated deubiquitinase 1

CTD Direct Evidence: marker/mechanism

PMID:22138691 PMID:22683710 PMID:23797736 PMID:25231345

NCBI chr16:6,453,126...6,461,952
Ensembl chr16:6,446,709...6,455,535

G

butyrylcholinesterase

CTD Direct Evidence: marker/mechanism

NCBI chr 2:160,607,289...160,699,760
Ensembl chr 2:158,307,584...158,401,148

G

BCL2, apoptosis regulator

disease_progression

RGD

PMID:17482919 PMID:18283311

RGD:2293019, RGD:2298896

NCBI chr13:23,204,464...23,366,900
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743

G

Bcl2-like 1

RGD

NCBI chr 3:161,713,777...161,764,844
Ensembl chr 3:141,253,523...141,303,479
Ensembl chr 1:141,253,523...141,303,479

G

BCL2-interacting killer

protein:decreased expression:kidney

RGD

NCBI chr 7:116,552,303...116,571,317
Ensembl chr 7:114,672,277...114,691,296

G

baculoviral IAP repeat-containing 2

disease_progression

mRNA:altered expression:kidney

RGD

NCBI chr 8:13,253,697...13,273,672
Ensembl chr 8:4,968,842...4,988,732

G

baculoviral IAP repeat-containing 3

mRNA:altered expression:kidney

RGD

NCBI chr 8:13,285,702...13,313,329
Ensembl chr 8:5,000,845...5,015,802

G

baculoviral IAP repeat-containing 5

disease_progression

mRNA:splice variant
CTD Direct Evidence: therapeutic
protein:increased expression:kidney

CTD
RGD

PMID:16188142 PMID:12115583 PMID:17363528

RGD:2293108, RGD:2293102

NCBI chr10:103,567,369...103,580,069
Ensembl chr10:103,073,408...103,081,380

G

baculoviral IAP repeat-containing 7

CTD Direct Evidence: marker/mechanism

PMID:17437058 PMID:25401301

NCBI chr 3:188,425,392...188,430,174
Ensembl chr 3:168,047,824...168,052,606

G

bone morphogenetic protein 4

severity

RGD

NCBI chr15:22,098,191...22,113,145
Ensembl chr15:19,618,542...19,623,306

G

bone morphogenetic protein 6

mRNA,protein:increased expression:kidney

RGD

NCBI chr17:26,523,704...26,785,558
Ensembl chr17:26,318,569...26,470,365

G

bone morphogenetic protein 7

disease_progression

RGD

NCBI chr 3:182,059,318...182,135,273
Ensembl chr 3:161,516,462...161,716,788

G

basigin

disease_progression

protein:increased expression:kidney
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:36574092 PMID:17021824

NCBI chr 7:10,643,788...10,651,005
Ensembl chr 7:9,993,170...10,000,387

G

BTG anti-proliferation factor 2

mRNA:decreased expression:kidney

RGD

NCBI chr13:48,083,931...48,087,690
Ensembl chr13:45,531,925...45,535,628

G

BTG anti-proliferation factor 3

CTD Direct Evidence: marker/mechanism

NCBI chr11:30,517,068...30,532,981
Ensembl chr11:17,030,160...17,046,170

G

complement C4A

disease_progression

RGD

NCBI chr20:4,010,306...4,024,707
Ensembl chr20:4,005,731...4,020,080

G

complement C4B

disease_progression

RGD

NCBI chr20:4,201,979...4,216,292
Ensembl chr20:4,197,366...4,211,681

G

similar to human chromosome 11 open reading frame 65

ClinVar Annotator: match by term: Renal adenocarcinoma

NCBI chr 8:62,692,123...62,720,951
Ensembl chr 8:53,796,366...53,824,748

G

carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase

RGD

NCBI chr 6:31,012,091...31,035,098
Ensembl chr 6:25,292,133...25,319,861

G

capping actin protein, gelsolin like

CTD Direct Evidence: marker/mechanism

NCBI chr 4:106,152,912...106,170,010
Ensembl chr 4:104,594,753...104,611,856

G

capping actin protein of muscle Z-line subunit alpha 2

ClinVar Annotator: match by term: Renal adenocarcinoma | ClinVar Annotator: match by term: Renal cell carcinoma | ClinVar Annotator: match by term: Renal cell carcinoma, somatic

NCBI chr 4:46,944,040...46,979,930
Ensembl chr 4:45,977,807...46,013,864

G

carbonic anhydrase 9

disease_progression

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 5:62,559,024...62,565,626
Ensembl chr 5:57,763,206...57,769,838

G

caspase recruitment domain family, member 11

CTD Direct Evidence: marker/mechanism

NCBI chr12:13,621,140...13,758,115
Ensembl chr12:13,621,087...13,758,112

G

caspase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 4:72,116,265...72,134,023
Ensembl chr 4:71,149,669...71,167,379

G

caspase 3

RGD

NCBI chr16:52,395,539...52,413,794
Ensembl chr16:45,662,910...45,684,648

G

caveolin 1

disease_progression

protein:increased expression:kidney
ClinVar Annotator: match by term: Renal cell carcinoma

PMID:28492532 PMID:15247769

NCBI chr 4:46,606,538...46,639,616
Ensembl chr 4:45,634,918...45,673,705

G

cyclin B1

disease_progression

protein:increased expression:kidney

RGD

NCBI chr 2:33,646,252...33,655,225
Ensembl chr 2:31,912,193...31,921,172

G

cyclin D1

DNA:polymorphism

RGD

PMID:15538282 PMID:17924468

RGD:2289130, RGD:2289127

NCBI chr 1:209,518,288...209,527,986
Ensembl chr 1:200,089,002...200,098,602

G

cyclin D3

disease_progression

RGD

NCBI chr 9:20,891,696...20,987,199
Ensembl chr 9:13,394,169...13,489,371

G

cyclin E1

mRNA, protein:increased expression:kidney

RGD

NCBI chr 1:99,918,672...99,927,986
Ensembl chr 1:90,781,949...90,791,101

G

CD40 molecule

treatment

RGD

PMID:15282531 PMID:12594303 PMID:20426873

RGD:7248440, RGD:11522744, RGD:7248724

NCBI chr 3:174,209,113...174,224,592
Ensembl chr 3:153,790,449...153,805,534

G

CD44 molecule

disease_progression
severity

protein:increased expression:kidney

RGD

PMID:12833185 PMID:17284111

RGD:2289360, RGD:2289351

NCBI chr 3:109,610,824...109,699,776
Ensembl chr 3:89,157,058...89,244,620

G

CD46 molecule

RGD

NCBI chr13:109,104,122...109,134,903
Ensembl chr13:106,574,858...106,660,445

G

cell division cycle 14B

severity

mRNA:decreased expression:kidney:

RGD

NCBI chr17:850,272...938,972
Ensembl chr17:844,685...933,235

G

cadherin 1

disease_progression
onset

protein:decreased expression, altered localization:kidney, nucleus
DNA:LOH: :

RGD

PMID:17906660 PMID:15203750

RGD:2289489, RGD:7242059

NCBI chr19:51,402,178...51,471,572
Ensembl chr19:34,492,371...34,561,775

G

cyclin dependent kinase 2

RGD

NCBI chr 7:1,714,392...1,721,964
Ensembl chr 7:1,129,811...1,137,403

G

cyclin-dependent kinase 4

protein:increased expression:kidney

RGD

NCBI chr 7:64,771,453...64,774,891
Ensembl chr 7:62,883,105...62,942,403

G

cyclin-dependent kinase inhibitor 1B

disease_progression

protein:decreased expression:kidney
mRNA, protein:increased expression:kidney

RGD

PMID:17924468 PMID:18425369 PMID:18495610

RGD:2289127, RGD:2293590, RGD:2293589

NCBI chr 4:169,491,273...169,496,500
Ensembl chr 4:167,760,181...167,764,982

G

cyclin-dependent kinase inhibitor 2A

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 5:109,100,763...109,114,448
Ensembl chr 5:103,984,949...104,003,149

G

cyclin-dependent kinase inhibitor 2A, variant 1

DNA:deletion
DNA:hypermethylation:promoter

RGD

PMID:17201148 PMID:15232742

RGD:2289680, RGD:2289699

G

cyclin-dependent kinase inhibitor 2A, variant 2

DNA, protein:hypermethylation, increased expression:promoter, kidney
DNA:deletion

RGD

PMID:15232742 PMID:17201148

RGD:2289699, RGD:2289680

G

cyclin-dependent kinase inhibitor 2B

DNA:loss of heterozygosity, deletion

RGD

NCBI chr 5:109,123,308...109,134,906
Ensembl chr 5:104,010,680...104,019,050

G

CF transmembrane conductance regulator

ClinVar Annotator: match by term: Renal adenocarcinoma | ClinVar Annotator: match by term: Renal cell carcinoma | ClinVar Annotator: match by term: Renal cell carcinoma, somatic

NCBI chr 4:47,422,084...47,694,646
Ensembl chr 4:46,560,885...46,728,756

G

calponin 2

CTD Direct Evidence: marker/mechanism

NCBI chr 7:10,363,141...10,370,312
Ensembl chr 7:9,712,516...9,719,656

G

catechol-O-methyltransferase

susceptibility

DNA:polymorphism:exon

RGD

NCBI chr11:96,072,371...96,091,956
Ensembl chr11:82,568,025...82,587,642

G

carboxypeptidase Q

CTD Direct Evidence: marker/mechanism

NCBI chr 7:66,148,973...66,719,189
Ensembl chr 7:64,264,081...64,724,546

G

cellular retinoic acid binding protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:55,138,363...55,159,360
Ensembl chr 8:55,151,285...55,159,360

G

CASP2 and RIPK1 domain containing adaptor with death domain

CTD Direct Evidence: marker/mechanism

NCBI chr 7:31,827,131...31,839,796
Ensembl chr 7:29,798,586...29,952,907

G

C-reactive protein

disease_progression

RGD

NCBI chr13:87,694,062...87,695,978
Ensembl chr13:85,124,977...85,175,178

G

crystallin, alpha B

CTD Direct Evidence: marker/mechanism

NCBI chr 8:59,989,885...59,995,532
Ensembl chr 8:51,093,441...51,099,157

G

colony stimulating factor 1 receptor

treatment

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 chr18:56,834,152...56,860,804
Ensembl chr18:54,546,659...54,590,415

G

CUB and Sushi multiple domains 3

CTD Direct Evidence: marker/mechanism

PMID:22138691 PMID:23797736

NCBI chr 7:78,747,322...80,066,466
Ensembl chr 7:78,748,480...80,066,369

G

cytotoxic T-lymphocyte-associated protein 4

DNA:SNPs:exons:rs3087243, rs231775 (human)

RGD

NCBI chr 9:69,812,859...69,819,959
Ensembl chr 9:62,319,312...62,324,963

G

catenin alpha 1

disease_progression

protein:decreased expression:kidney

RGD

NCBI chr18:27,002,330...27,135,009
Ensembl chr18:26,728,485...26,860,910

G

catenin beta 1

disease_progression

protein:increased expression:kidney
ClinVar Annotator: match by term: Renal adenocarcinoma

PMID:26822237 PMID:11831984 PMID:15330191

RGD:2289835, RGD:2289794

NCBI chr 8:129,517,576...129,544,661
Ensembl chr 8:120,639,995...120,667,111

G

cathepsin B

CTD Direct Evidence: marker/mechanism

NCBI chr15:41,565,607...41,586,479
Ensembl chr15:37,389,629...37,410,500

G

cathepsin D

CTD Direct Evidence: marker/mechanism

NCBI chr 1:206,956,945...206,968,821
Ensembl chr 1:197,527,467...197,539,488

G

cullin 7

CTD Direct Evidence: marker/mechanism

NCBI chr 9:21,816,703...21,830,344
Ensembl chr 9:14,319,108...14,332,741

G

C-X-C motif chemokine receptor 2

RGD

NCBI chr 9:83,178,645...83,185,017
Ensembl chr 9:75,729,115...75,739,425

G

cytochrome P450, family 1, subfamily a, polypeptide 1

no_association

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 8:66,991,940...66,998,014
Ensembl chr 8:58,096,077...58,102,125

G

death associated protein kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr17:3,935,826...4,096,858
Ensembl chr17:3,930,213...4,090,991

G

delta like canonical Notch ligand 4

treatment

RGD

NCBI chr 3:106,317,114...106,327,004
Ensembl chr 3:106,316,986...106,326,931

G

dynein heavy chain domain 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:169,402,615...169,486,684
Ensembl chr 1:159,990,438...160,074,858

G

estrogen receptor binding site associated antigen 9

disease_progression

RGD

NCBI chr 7:75,810,950...75,828,902
Ensembl chr 7:75,810,594...75,861,248

G

eukaryotic translation elongation factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 7:9,183,836...9,196,255
Ensembl chr 7:8,533,116...8,559,183

G

epidermal growth factor receptor

protein:increased expression:tumor

RGD

NCBI chr14:95,378,626...95,551,358
Ensembl chr14:91,177,067...91,344,382

G

egl-9 family hypoxia-inducible factor 1

protein:increased expression:kidney

RGD

NCBI chr19:69,765,276...69,804,681
Ensembl chr19:52,869,486...52,907,777

G

egl-9 family hypoxia-inducible factor 2

protein:increased expression:kidney

RGD

NCBI chr 1:91,579,205...91,586,985
Ensembl chr 1:82,451,555...82,459,751

G

egl-9 family hypoxia-inducible factor 3

protein:increased expression:serum

RGD

NCBI chr 6:77,385,549...77,411,015
Ensembl chr 6:71,650,297...71,675,766

G

elongin C

CTD Direct Evidence: marker/mechanism

NCBI chr 5:7,444,769...7,461,187
Ensembl chr 5:2,661,724...2,677,890
Ensembl chr20:2,661,724...2,677,890

G

endothelial PAS domain protein 1

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:21131975 PMID:12750296

NCBI chr 6:13,543,252...13,626,147
Ensembl chr 6:7,790,647...7,871,228

G

erb-b2 receptor tyrosine kinase 2

CTD Direct Evidence: marker/mechanism
mRNA:decreased expression:kidney

CTD
RGD

PMID:10897039 PMID:17296437 PMID:15360049

RGD:2289930, RGD:2289987

NCBI chr10:83,907,491...83,931,365
Ensembl chr10:83,411,313...83,435,078

G

erb-b2 receptor tyrosine kinase 4

mRNA, protein:decreased expression:kidney

RGD

NCBI chr 9:76,973,386...78,045,633
Ensembl chr 9:69,531,481...70,596,595

G

Fas cell surface death receptor

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 1:241,212,155...241,245,774
Ensembl chr 1:231,798,960...231,832,591

G

Fas ligand

RGD

PMID:17641033 PMID:11435457

RGD:2290051, RGD:2290132

NCBI chr13:76,680,885...76,706,042
Ensembl chr13:74,154,954...74,162,215

G

fibroblast growth factor 2

disease_progression

protein:increased expression:serum

RGD

NCBI chr 2:122,164,454...122,218,796
Ensembl chr 2:120,236,328...120,291,221

G

Fibroblast growth factor receptor 1

disease_progression

RGD

NCBI chr16:73,194,631...73,249,855
Ensembl chr16:66,494,042...66,547,350

G

fumarate hydratase

RGD

NCBI chr13:87,524,331...87,550,215
Ensembl chr13:87,524,337...87,550,266

G

fragile histidine triad diadenosine triphosphatase

RGD

PMID:10530564 PMID:17539022

RGD:2289903, RGD:2289870

NCBI chr15:16,365,401...17,872,901
Ensembl chr15:13,934,995...15,442,340

G

folliculin

treatment

CTD Direct Evidence: marker/mechanism

PMID:12204536 PMID:14769940 PMID:16369488

RGD:1302869, RGD:13605606

NCBI chr10:45,088,164...45,107,581
Ensembl chr10:44,588,624...44,607,769

G

Fms related receptor tyrosine kinase 1

CTD Direct Evidence: therapeutic
protein:increased expression:kidney, blood, myeloid cell

CTD
RGD

PMID:16596207 PMID:11846206 PMID:18566400

RGD:2289960, RGD:2301250

NCBI chr12:12,333,050...12,504,750
Ensembl chr12:7,297,292...7,468,626

G

formin 2

CTD Direct Evidence: marker/mechanism

NCBI chr13:88,986,863...89,303,789
Ensembl chr13:86,453,926...86,771,411

G

fibronectin 1

severity

RGD

NCBI chr 9:80,645,507...80,714,200
Ensembl chr 9:73,196,044...73,264,678

G

fucose-1-phosphate guanylyltransferase

CTD Direct Evidence: marker/mechanism

NCBI chr 2:244,099,031...244,119,967
Ensembl chr 2:244,099,076...244,119,899

G

fibroblast growth factor receptor substrate 2

disease_progression

RGD

NCBI chr 7:54,597,182...54,678,656
Ensembl chr 7:52,711,257...52,792,743

G

FTO, alpha-ketoglutarate dependent dioxygenase

treatment

RGD

NCBI chr19:31,456,749...31,865,011
Ensembl chr19:15,349,696...15,692,083

G

growth hormone releasing hormone

RGD

NCBI chr 3:166,412,763...166,432,519
Ensembl chr 3:145,992,763...146,011,889

G

gap junction protein, beta 1

CTD Direct Evidence: marker/mechanism

NCBI chr X:70,541,845...70,549,776
Ensembl chr X:66,501,820...66,509,925

G

growth factor receptor bound protein 7

CTD Direct Evidence: marker/mechanism

NCBI chr10:83,936,538...83,949,344
Ensembl chr10:83,444,004...83,453,052

G

glutathione-disulfide reductase

protein:decreased expression:kidney:

RGD

NCBI chr16:65,185,574...65,228,742
Ensembl chr16:58,482,505...58,525,661

G

glutathione S-transferase mu 1

susceptibility

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:18566013 PMID:26656529 PMID:14504370

NCBI chr 2:198,338,005...198,346,007
Ensembl chr 2:195,649,845...195,655,411

G

glutathione S-transferase pi 1

protein:increased expression:kidney
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:15108329 PMID:20464042

NCBI chr 1:210,767,237...210,770,242
Ensembl chr 1:201,321,672...201,340,226

G

glutathione S-transferase theta 1

susceptibility

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:18566013 PMID:26656529 PMID:14504370

NCBI chr20:12,856,068...12,873,020
Ensembl chr20:12,856,669...12,873,585

G

histidyl-tRNA synthetase 1

CTD Direct Evidence: marker/mechanism

NCBI chr18:28,655,669...28,672,712
Ensembl chr18:28,381,655...28,398,740

G

hepatitis A virus cellular receptor 1

disease_progression

RGD

NCBI chr10:31,619,914...31,652,955
Ensembl chr10:31,119,088...31,151,698

G

hepatitis A virus cellular receptor 2

susceptibility

DNA:polymorphisms: :-574G>T, +4259T>G (human)

RGD

NCBI chr10:31,383,801...31,415,334
Ensembl chr10:30,882,606...30,909,137

G

hypoxia inducible factor 1 subunit alpha

disease_progression

RGD

NCBI chr 6:98,357,788...98,405,068
Ensembl chr 6:92,624,390...92,669,261

G

HNF1 homeobox A

CTD Direct Evidence: marker/mechanism

NCBI chr12:47,299,171...47,333,457
Ensembl chr12:41,645,587...41,672,104

G

HNF1 homeobox B

CTD Direct Evidence: marker/mechanism

NCBI chr10:69,233,377...69,287,360
Ensembl chr10:68,735,894...68,789,888

G

homeo box B13

disease_progression

DNA:hypermethylation

RGD

NCBI chr10:81,160,498...81,162,777
Ensembl chr10:81,160,498...81,162,777

G

heat shock protein family A (Hsp70) member 9

CTD Direct Evidence: marker/mechanism

NCBI chr18:26,810,004...26,832,958
Ensembl chr18:26,535,798...26,554,292

G

heat shock protein family B (small) member 1

CTD Direct Evidence: marker/mechanism

NCBI chr12:26,430,640...26,432,301
Ensembl chr12:20,794,028...20,795,743

G

heat shock protein family D (Hsp60) member 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:64,073,610...64,084,332
Ensembl chr 9:56,579,201...56,589,662

G

insulin-like growth factor 1 receptor

RGD

NCBI chr 1:130,959,787...131,248,664
Ensembl chr 1:121,550,743...121,831,777

G

insulin-like growth factor binding protein 3

RGD

NCBI chr14:86,270,208...86,277,944
Ensembl chr14:82,056,347...82,064,083

G

insulin-like growth factor binding protein 7

mRNA:decreased expression:kidney

RGD

NCBI chr14:31,091,681...31,151,623
Ensembl chr14:30,737,164...30,797,314

G

interleukin 13

CTD Direct Evidence: marker/mechanism

NCBI chr10:38,290,926...38,293,483
Ensembl chr10:37,790,130...37,792,737

G

interleukin 1 receptor antagonist

RGD

NCBI chr 3:27,509,836...27,525,738
Ensembl chr 3:7,111,550...7,127,445

G

interleukin 2

RGD

NCBI chr 2:121,932,968...121,937,672
Ensembl chr 2:120,004,862...120,009,566

G

interleukin 4 receptor

susceptibility
disease_progression

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 1:189,545,739...189,570,639
Ensembl chr 1:180,115,120...180,139,980

G

interleukin 6

CTD Direct Evidence: marker/mechanism

NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,213,394...5,219,178

G

interleukin 6 receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 2:177,582,020...177,646,705
Ensembl chr 2:175,298,686...175,347,536

G

inositol polyphosphate-4-phosphatase type II B

CTD Direct Evidence: marker/mechanism

NCBI chr19:42,824,710...43,575,039
Ensembl chr19:25,925,358...26,280,634

G

insulin receptor

RGD

NCBI chr12:5,991,135...6,129,275
Ensembl chr12:1,197,100...1,330,883

G

Jun proto-oncogene, AP-1 transcription factor subunit

RGD

NCBI chr 5:115,009,900...115,012,993
Ensembl chr 5:109,893,145...109,897,656

G

junction plakoglobin

RGD

PMID:15701841 PMID:9891472

RGD:2291866, RGD:2291890

NCBI chr10:85,800,812...85,827,881
Ensembl chr10:85,300,440...85,327,057

G

KN motif and ankyrin repeat domains 1

DNA, mRNA, protein:hypermethylation, decreased expression:kidney

RGD

NCBI chr 1:232,381,720...232,500,834
Ensembl chr 1:222,877,622...223,074,514

G

potassium voltage-gated channel subfamily H member 1

protein:increased expression:kidney (human)

RGD

NCBI chr13:106,253,101...106,555,712
Ensembl chr13:103,722,245...104,024,740

G

potassium calcium-activated channel subfamily M alpha 1

CTD Direct Evidence: marker/mechanism

NCBI chr15:351,065...1,057,117
Ensembl chr15:302,214...1,001,198

G

lysine demethylase 4C

DNA:deletion:cds (human)

RGD

NCBI chr 5:93,146,404...93,353,040
Ensembl chr 5:88,100,733...88,306,818

G

lysine demethylase 5C

CTD Direct Evidence: marker/mechanism

NCBI chr X:21,345,459...21,387,045
Ensembl chr X:21,345,481...21,381,870

G

lysine demethylase 6A

mRNA, protein:increased expression:kidney (human)

NCBI chr X:4,337,466...4,477,100
Ensembl chr X:4,337,750...4,477,062

G

lysine demethylase 6B

mRNA, protein:increased expression:kidney (human)

RGD

NCBI chr10:54,619,520...54,641,014
Ensembl chr10:54,121,848...54,130,794

G

kinase insert domain receptor

treatment

RGD

PMID:17653245 PMID:16763608 PMID:17332933

RGD:2301756, RGD:126925190, RGD:8552363

NCBI chr14:32,572,031...32,615,204
Ensembl chr14:32,217,871...32,261,018

G

Kelch-like ECH-associated protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:28,044,555...28,054,042
Ensembl chr 8:19,768,375...19,777,862

G

KIT proto-oncogene receptor tyrosine kinase

chromophobe RCC only
papillary RCC only

RGD

PMID:15780567 PMID:15073597

RGD:2292414, RGD:2292421

NCBI chr14:32,901,615...32,978,895
Ensembl chr14:32,548,877...32,624,652

G

kallikrein related-peptidase 6

protein:decreased expression:kidney

RGD

NCBI chr 1:94,278,863...94,286,136
Ensembl chr 1:94,280,340...94,286,121

G

KRAS proto-oncogene, GTPase

mRNA:increased expression:kidney

RGD

NCBI chr 4:179,916,255...179,949,613

G

keratin 32

CTD Direct Evidence: marker/mechanism

NCBI chr10:85,013,551...85,020,578
Ensembl chr10:85,013,554...85,020,534

G

keratin 7

CTD Direct Evidence: marker/mechanism

PMID:15108329 PMID:16927643

NCBI chr 7:134,407,626...134,423,787
Ensembl chr 7:132,528,895...132,545,052

G

keratin 8

CTD Direct Evidence: marker/mechanism

NCBI chr 7:135,002,886...135,010,339
Ensembl chr 7:133,124,203...133,131,728

G

L1 cell adhesion molecule

CTD Direct Evidence: marker/mechanism

NCBI chr X:156,748,597...156,775,116
Ensembl chr X:151,597,277...151,623,857

G

lactate dehydrogenase B

CTD Direct Evidence: marker/mechanism

NCBI chr 4:177,159,389...177,177,408
Ensembl chr 4:175,428,385...175,446,403

G

leptin

resistance

RGD

NCBI chr 4:58,626,529...58,640,663
Ensembl chr 4:57,661,131...57,675,262

G

lectin, mannose-binding 2-like

CTD Direct Evidence: marker/mechanism

NCBI chr 9:46,157,596...46,181,151
Ensembl chr 9:38,661,712...38,685,337

G

leucyl and cystinyl aminopeptidase

RGD

NCBI chr 1:66,931,712...67,027,610
Ensembl chr 1:58,258,642...58,354,544

G

LDL receptor related protein 1B

CTD Direct Evidence: marker/mechanism

NCBI chr 3:45,004,001...47,125,147
Ensembl chr 3:24,594,991...26,715,505

G

leucine-rich repeat kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 7:124,706,246...124,867,234
Ensembl chr 7:122,826,696...122,987,703

G

lactotransferrin

RGD

NCBI chr 8:119,878,344...119,901,189
Ensembl chr 8:110,999,948...111,022,795

G

mannose-6-phosphate receptor, cation dependent

CTD Direct Evidence: marker/mechanism

NCBI chr 4:157,173,154...157,182,293
Ensembl chr 4:155,500,921...155,510,216

G

mesencephalic astrocyte-derived neurotrophic factor

susceptibility

RGD

NCBI chr 8:116,427,053...116,430,259
Ensembl chr 8:107,548,352...107,551,438

G

mitogen activated protein kinase kinase 1

RGD

PMID:7664295 PMID:18172299

RGD:2292629, RGD:2292630

NCBI chr 8:73,578,747...73,650,184
Ensembl chr 8:64,683,449...64,755,147

G

mitogen activated protein kinase 1

susceptibility

DNA:missense mutation: :multiple

RGD

NCBI chr11:97,462,025...97,529,193
Ensembl chr11:83,957,813...84,023,616

G

MET proto-oncogene, receptor tyrosine kinase

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 CELL CARCINOMA WITH PARANEOPLASTIC ERYTHROCYTOSIS | 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 More...

NCBI chr 4:46,756,823...46,864,041
Ensembl chr 4:45,790,791...45,897,876

G

matrix Gla protein

disease_progression

RGD

NCBI chr 4:171,497,472...171,500,888
Ensembl chr 4:169,766,279...169,769,667

G

microRNA 31

severity

RNA:decreased expression:proximal convoluted tubule (human)

RGD

NCBI chr 5:108,714,849...108,714,954

G

melanocyte inducing transcription factor

CTD Direct Evidence: marker/mechanism

NCBI chr 4:131,965,676...132,177,790
Ensembl chr 4:130,409,217...130,621,145

G

mutL homolog 1

protein:decreased expression:kidney

RGD

NCBI chr 8:120,074,871...120,112,109
Ensembl chr 8:111,196,468...111,233,617

G

MLLT10, histone lysine methyltransferase DOT1L cofactor

CTD Direct Evidence: marker/mechanism

NCBI chr17:85,729,964...85,857,791
Ensembl chr17:80,822,556...80,949,345

G

matrix metallopeptidase 1

susceptibility
no_association

DNA:insertion:promoter:g.-1607insG (human)

RGD

PMID:12845675 PMID:17980059

RGD:7207023, RGD:7207082

NCBI chr 8:12,943,453...12,963,966
Ensembl chr 8:4,658,588...4,679,097

G

matrix metallopeptidase 2

disease_progression

protein:increased expression:kidney
mRNA:decreased expression:kidney

RGD

PMID:17572184 PMID:18035688

RGD:2290359, RGD:2290358

NCBI chr19:30,327,643...30,355,856
Ensembl chr19:14,154,657...14,182,870

G

matrix metallopeptidase 3

DNA:missense mutation:cds:p.E45K rs679620 (human)

RGD

PMID:15319295 PMID:19551141

RGD:7207067, RGD:7241233

NCBI chr 8:12,925,267...12,938,828
Ensembl chr 8:4,640,416...4,653,961

G

matrix metallopeptidase 9

mRNA:increased expression:kidney

RGD

NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:153,683,858...153,692,120

G

MOK protein kinase

mRNA:increased expression:kidney

RGD

NCBI chr 6:129,823,794...129,854,669
Ensembl chr 6:129,823,795...129,854,700

G

mesogenin 1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:39,631,868...39,632,508
Ensembl chr 6:33,912,787...33,913,427

G

mutS homolog 2

protein:decreased expression:kidney
ClinVar Annotator: match by term: Renal adenocarcinoma

PMID:18325052 PMID:21926548 PMID:24506336 PMID:24763289 PMID:25637381 More...

NCBI chr 6:12,567,368...12,626,534
Ensembl chr 6:6,813,795...6,872,938

G

methylenetetrahydrofolate reductase

susceptibility

DNA:missense mutation:cds:p.A222V (rs1801133) (human)

RGD

NCBI chr 5:163,748,346...163,768,141
Ensembl chr 5:158,465,296...158,483,797

G

mechanistic target of rapamycin kinase

ClinVar Annotator: match by term: Renal adenocarcinoma
ClinVar Annotator: match by term: Renal adenocarcinoma | ClinVar Annotator: match by term: Renal cell carcinoma
CTD Direct Evidence: marker/mechanism

ClinVar
CTD
RGD

PMID:20190810 PMID:22729223 PMID:23797736 PMID:24631838 PMID:25599672 More...

NCBI chr 5:164,167,985...164,277,438
Ensembl chr 5:158,884,804...158,994,311

G

mucin 1, cell surface associated

disease_progression

RGD

NCBI chr 2:176,933,312...176,938,497
Ensembl chr 2:174,635,995...174,640,733

G

mucin 4, cell surface associated

CTD Direct Evidence: marker/mechanism

NCBI chr11:68,008,245...68,053,242

G

MYC proto-oncogene, bHLH transcription factor

mRNA:increased expression:kidney (human)
protein:increased expression:kidney (rat)

RGD

PMID:21982273 PMID:18055543

RGD:7207793, RGD:7207841

NCBI chr 7:95,483,105...95,488,031
Ensembl chr 7:93,593,705...93,598,630

G

neuron navigator 3

CTD Direct Evidence: marker/mechanism

NCBI chr 7:45,052,206...45,840,471
Ensembl chr 7:45,054,296...45,840,698

G

N-myc downstream regulated 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:100,573,526...100,614,902
Ensembl chr 7:98,684,487...98,725,880

G

NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor

OMIM:300854
CTD Direct Evidence: marker/mechanism

MouseDO
CTD
RGD

PMID:25401301 PMID:19487675

NCBI chr14:83,850,894...83,934,263
Ensembl chr14:79,627,399...79,710,667

G

NFE2 like bZIP transcription factor 2

ClinVar Annotator: match by term: Renal adenocarcinoma

NCBI chr 3:81,001,529...81,031,165
Ensembl chr 3:60,594,242...60,621,737

G

NLR family, pyrin domain containing 12

CTD Direct Evidence: marker/mechanism

NCBI chr 1:65,932,610...65,969,873
Ensembl chr 1:65,932,595...65,960,934

G

NME/NM23 nucleoside diphosphate kinase 1

disease_progression

RGD

NCBI chr10:79,403,939...79,426,620
Ensembl chr10:78,906,083...78,916,408

G

nicotinamide N-methyltransferase

mRNA:increased expression:kidney
mRNA:increased expression:kidney (human)

RGD

PMID:17070307 PMID:15682440

RGD:2299120, RGD:401793726

NCBI chr 8:57,820,156...57,851,301
Ensembl chr 8:48,933,598...48,946,655

G

nuclear receptor subfamily 3, group C, member 1

severity
treatment

RGD

PMID:21531004 PMID:18181043

RGD:7174727, RGD:7174733

NCBI chr18:31,522,783...31,644,508
Ensembl chr18:31,271,681...31,393,375

G

neuropilin 1

disease_progression

RGD

NCBI chr19:73,256,557...73,411,705
Ensembl chr19:56,359,455...56,513,633

G

8-oxoguanine DNA glycosylase

ClinVar Annotator: match by term: OGG1-related condition
CTD Direct Evidence: marker/mechanism

ClinVar
CTD
OMIM
RGD

PMID:25741868 PMID:28492532 PMID:18218111 PMID:10987279

RGD:2317140, RGD:1600295

NCBI chr 4:148,030,237...148,037,599
Ensembl chr 4:146,474,750...146,484,766

G

olfactory receptor family 4 subfamily C member 105

CTD Direct Evidence: marker/mechanism

NCBI chr 3:74,582,417...74,583,346
Ensembl chr 3:74,579,912...74,593,375

G

p21 (RAC1) activated kinase 1

protein:increased expression:kidney
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:17621631 PMID:17621631

NCBI chr 1:161,522,399...161,637,623
Ensembl chr 1:152,111,188...152,226,383

G

polybromo 1

CTD Direct Evidence: marker/mechanism

PMID:22138691 PMID:23797736 PMID:21654818

NCBI chr16:6,219,933...6,319,336
Ensembl chr16:6,213,300...6,311,780

G

proliferating cell nuclear antigen

severity

RGD

NCBI chr 3:139,951,948...139,955,820
Ensembl chr 3:119,498,810...119,502,995

G

programmed cell death 1

disease_progression

RGD

NCBI chr 9:101,866,124...101,879,278
Ensembl chr 9:94,418,791...94,431,937

G

platelet derived growth factor receptor alpha

disease_progression

protein:increased expression:kidney

RGD

NCBI chr14:33,360,027...33,408,604
Ensembl chr14:33,005,839...33,054,335

G

platelet derived growth factor receptor beta

mRNA:increased expression:kidney

RGD

PMID:15994946 PMID:16865223

RGD:2292198, RGD:2290496

NCBI chr18:56,770,348...56,809,228
Ensembl chr18:54,499,964...54,538,843

G

pyruvate dehydrogenase E1 subunit beta

CTD Direct Evidence: marker/mechanism

NCBI chr15:19,182,789...19,188,731
Ensembl chr15:16,750,980...16,758,500

G

podoplanin

disease_progression

RGD

NCBI chr 5:160,884,995...160,919,112
Ensembl chr 5:155,601,691...155,635,656

G

pyridoxal-dependent decarboxylase domain containing 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:2,528,989...2,620,669
Ensembl chr10:2,025,360...2,113,520

G

phosphatidylethanolamine binding protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr12:44,946,307...44,967,890
Ensembl chr12:39,302,840...39,307,862

G

phosphoribosylformylglycinamidine synthase

RGD

NCBI chr10:53,690,301...53,711,811
Ensembl chr10:53,691,626...53,708,420

G

placental growth factor

disease_progression

protein:increased expression:plasma

RGD

NCBI chr 6:110,547,165...110,557,747
Ensembl chr 6:104,816,104...104,826,685

G

phosphoglycerate kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr X:75,336,988...75,352,962
Ensembl chr X:71,271,440...71,287,418

G

p53-induced death domain protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:205,966,392...205,972,359
Ensembl chr 1:196,536,834...196,542,699

G

phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Renal adenocarcinoma | ClinVar Annotator: match by term: Renal cell carcinoma

PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 More...

NCBI chr 2:117,103,643...117,177,411
Ensembl chr 2:115,174,984...115,249,032

G

phosphoinositide-3-kinase regulatory subunit 1

disease_progression

RGD

NCBI chr 2:34,612,946...34,697,660
Ensembl chr 2:32,882,032...32,963,631

G

plasminogen activator, urokinase

severity

mRNA:increased expression:kidney (human)

RGD

NCBI chr15:3,505,485...3,511,987
Ensembl chr15:3,456,232...3,462,775

G

phospholipase D2

protein:increased expression:kidney

RGD

NCBI chr10:55,754,957...55,772,819
Ensembl chr10:55,256,359...55,272,808

G

prostate transmembrane protein, androgen induced 1

mRNA:increased expression:kidney

RGD

NCBI chr 3:182,430,193...182,478,649
Ensembl chr 3:162,012,751...162,060,454

G

PNKD metallo-beta-lactamase domain containing

CTD Direct Evidence: marker/mechanism

NCBI chr 9:83,317,757...83,386,263
Ensembl chr 9:75,867,468...75,937,124

G

proopiomelanocortin

CTD Direct Evidence: marker/mechanism

NCBI chr 6:32,659,137...32,665,175
Ensembl chr 6:26,939,837...26,945,664

G

phosphoribosyl pyrophosphate amidotransferase

protein:increased activity:tumor (rat)

RGD

NCBI chr14:31,570,010...31,604,410
Ensembl chr14:31,216,165...31,250,144

G

PRAME like, X-linked 1

CTD Direct Evidence: marker/mechanism

NCBI chr X:102,862,457...102,867,725
Ensembl chr X:98,569,415...98,572,096

G

proline rich mitotic checkpoint control factor

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Renal cell carcinoma, somatic

NCBI chr 2:173,326,261...173,351,799
Ensembl chr 2:173,326,259...173,351,825

G

proteasome 20S subunit beta 9

DNA:snp:promoter:g.-151G>T (human)

RGD

NCBI chr20:4,668,952...4,674,421
Ensembl chr20:4,666,046...4,672,512

G

phosphatase and tensin homolog

disease_progression

ClinVar Annotator: match by term: Renal adenocarcinoma
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:11504908 More...

RGD:1643331, RGD:12802360, RGD:2292513, RGD:2292500

NCBI chr 1:240,043,707...240,110,330
Ensembl chr 1:230,630,338...230,696,838

G

prostaglandin-endoperoxide synthase 1

mRNA:increased expression:kidney

RGD

NCBI chr 3:39,981,419...40,002,993
Ensembl chr 3:19,584,015...19,605,586

G

prostaglandin-endoperoxide synthase 2

disease_progression

mRNA:decreased expression:kidney
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:12664575 PMID:12708469 PMID:17899436

RGD:2300212, RGD:2300204

NCBI chr13:64,714,063...64,722,320
Ensembl chr13:62,163,932...62,172,188

G

parvalbumin

CTD Direct Evidence: marker/mechanism

NCBI chr 7:111,653,820...111,668,469
Ensembl chr 7:109,772,593...109,784,561

G

Ras association domain family member 1

DNA:hypermethylation:promoter

RGD

PMID:17645803 PMID:12222680

RGD:2299866, RGD:2291977

NCBI chr 8:117,103,665...117,114,805
Ensembl chr 8:108,225,023...108,236,164

G

RB transcriptional corepressor 1

disease_progression

RGD

NCBI chr15:54,780,858...54,911,989
Ensembl chr15:48,371,296...48,502,302

G

RELA proto-oncogene, NF-kB subunit

CTD Direct Evidence: marker/mechanism
protein:increased expression:kidney

CTD
RGD

PMID:18089796 PMID:17290398 PMID:12663495

RGD:2298755, RGD:2298771

NCBI chr 1:212,354,336...212,364,815
Ensembl chr 1:202,924,945...202,935,484

G

ring finger protein 139

CTD Direct Evidence: marker/mechanism

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

G

ribosomal protein L14

CTD Direct Evidence: marker/mechanism

NCBI chr 8:129,163,620...129,166,745
Ensembl chr 8:120,284,645...120,289,064

G

RT1 class II, locus Db1

susceptibility
disease_progression

RGD

PMID:9044854 PMID:12771724 PMID:10895068

RGD:2314704, RGD:2314695, RGD:2314701

NCBI chr20:4,550,594...4,560,182
Ensembl chr20:4,548,666...4,558,258

G

ryanodine receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:93,420,078...93,551,305
Ensembl chr 1:84,292,578...84,423,812

G

scavenger receptor class B, member 1

CTD Direct Evidence: marker/mechanism

NCBI chr12:36,957,302...37,023,982
Ensembl chr12:31,296,156...31,362,647

G

succinate dehydrogenase complex iron sulfur subunit B

ClinVar Annotator: match by term: Renal adenocarcinoma | ClinVar Annotator: match by term: Renal cell carcinoma

PMID:18728283 PMID:19576851 PMID:22835832 PMID:24055113 PMID:24092654 More...

NCBI chr 5:158,547,775...158,568,589
Ensembl chr 5:153,264,899...153,314,293

G

succinate dehydrogenase complex subunit D

RGD

NCBI chr 8:59,841,090...59,850,641
Ensembl chr 8:50,944,704...50,954,238

G

SET domain containing 2, histone lysine methyltransferase

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:22138691 PMID:23797736 PMID:21654818

NCBI chr 8:119,390,207...119,475,863
Ensembl chr 8:110,511,772...110,597,489

G

secreted frizzled-related protein 1

mRNA:decreased expression:kidney

RGD

NCBI chr16:75,278,325...75,316,736
Ensembl chr16:68,575,763...68,614,286

G

secreted frizzled-related protein 2

CTD Direct Evidence: marker/mechanism

NCBI chr 2:171,387,536...171,395,081
Ensembl chr 2:169,089,517...169,097,063

G

SH3 and multiple ankyrin repeat domains 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:103,944,416...103,993,887
Ensembl chr 1:94,808,276...94,855,824

G

S-phase kinase associated protein 2

disease_progression

RGD

NCBI chr 2:59,888,406...59,916,471
Ensembl chr 2:58,161,229...58,189,338

G

solute carrier family 2 member 1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:138,002,522...138,030,742
Ensembl chr 5:132,717,196...132,745,416

G

solute carrier family 49 member 4

susceptibility

DNA:translocation:intron:t(2;3)(q35;q21)

RGD

NCBI chr11:64,995,629...65,068,929
Ensembl chr11:64,995,679...65,068,926

G

solute carrier family 5 member 3

CTD Direct Evidence: marker/mechanism

NCBI chr11:44,799,787...44,802,233
Ensembl chr11:31,295,476...31,318,883

G

SMAD family member 2

severity

protein:decreased expression:kidney

RGD

NCBI chr18:72,124,792...72,193,345
Ensembl chr18:69,850,377...69,912,323

G

SMAD family member 4

severity

protein:decreased expression:kidney

RGD

NCBI chr18:69,518,988...69,549,684
Ensembl chr18:67,243,742...67,274,438

G

SWI/SNF related BAF chromatin remodeling complex subunit C1

disease_progression

RGD

NCBI chr 8:110,111,097...110,214,734
Ensembl chr 8:110,111,122...110,214,720

G

superoxide dismutase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:50,043,323...50,050,168
Ensembl chr 1:47,636,528...47,645,189

G

secreted protein acidic and cysteine rich

mRNA, protein:increased expression:kidney

RGD

NCBI chr10:40,017,065...40,038,816
Ensembl chr10:39,516,406...39,538,396

G

serine peptidase inhibitor, Kazal type 1

disease_progression

protein:decreased expression:kidney
protein:increased expression:serum

RGD

PMID:10508484 PMID:11176522

RGD:2300388, RGD:2300387

NCBI chr18:36,121,626...36,133,596
Ensembl chr18:35,824,550...35,882,642

G

spectrin, beta, non-erythrocytic 4

CTD Direct Evidence: marker/mechanism

NCBI chr 1:91,778,379...91,865,970
Ensembl chr 1:82,650,751...82,737,228

G

ST14 transmembrane serine protease matriptase

protein:increased expression:kidney

RGD

NCBI chr 8:37,798,994...37,839,881
Ensembl chr 8:29,540,811...29,581,517

G

suppression of tumorigenicity 7

ClinVar Annotator: match by term: Renal adenocarcinoma | ClinVar Annotator: match by term: Renal cell carcinoma | ClinVar Annotator: match by term: Renal cell carcinoma, somatic

NCBI chr 4:47,007,568...47,255,639
Ensembl chr 4:46,042,236...46,289,740

G

signal transducer and activator of transcription 3

disease_progression

DNA:snp
protein:increased phosphorylation:kidney

RGD

PMID:17602083 PMID:12131365

RGD:2291913, RGD:2291917

NCBI chr10:86,311,528...86,363,513
Ensembl chr10:85,811,218...85,863,057

G

spectrin repeat containing nuclear envelope protein 2

CTD Direct Evidence: marker/mechanism

NCBI chr 6:100,272,729...100,586,364
Ensembl chr 6:94,537,088...94,848,064

G

transgelin 2

CTD Direct Evidence: marker/mechanism

NCBI chr13:87,499,350...87,506,328
Ensembl chr13:84,967,009...84,973,972

G

telomerase RNA component

RNA:decreased expression:kidney

RGD

NCBI chr 2:112,815,654...112,816,041

G

telomerase reverse transcriptase

mRNA, protein:increased expression:kidney

RGD

NCBI chr 1:31,465,766...31,488,650
Ensembl chr 1:29,637,506...29,659,561

G

tet methylcytosine dioxygenase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 2:224,662,654...224,746,819
Ensembl chr 2:221,988,645...222,072,534

G

transcription factor binding to IGHM enhancer 3

ClinVar Annotator: match by term: Renal cell carcinoma
CTD Direct Evidence: marker/mechanism

ClinVar
CTD
RGD

PMID:25741868 PMID:28492532 PMID:30595499 PMID:32409512 PMID:35346031 More...

NCBI chr X:17,401,466...17,414,829
Ensembl chr X:14,729,550...14,742,571

G

transferrin receptor

protein:increased expression:kidney, T cell
mRNA:decreased expression:kidney, T cell

RGD

PMID:12394762 PMID:8050820

RGD:2292024, RGD:2292025

NCBI chr11:81,668,478...81,690,318
Ensembl chr11:68,163,413...68,185,257

G

transforming growth factor, beta 1

disease_progression

protein:increased expression:peripheral blood

RGD

PMID:26749573 PMID:25499257 PMID:26631499

RGD:11560966, RGD:13506175, RGD:13506173

NCBI chr 1:90,324,312...90,340,627
Ensembl chr 1:81,196,532...81,212,847

G

transglutaminase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 3:167,192,612...167,221,845
Ensembl chr 3:146,772,687...146,801,981

G

thyroid hormone receptor alpha

DNA:mutations (human)

RGD

NCBI chr10:84,198,141...84,225,659
Ensembl chr10:83,700,755...83,729,936

G

thyroid hormone receptor beta

DNA:mutations (human)

RGD

NCBI chr15:10,115,954...10,465,231
Ensembl chr15:7,685,180...7,882,916

G

TIMP metallopeptidase inhibitor 1

disease_progression

protein:increased expression:kidney

RGD

NCBI chr X:3,766,509...3,772,578
Ensembl chr X:1,212,972...1,217,664

G

TIMP metallopeptidase inhibitor 2

disease_progression

protein:increased expression:kidney
mRNA:decreased expression:kidney

RGD

PMID:17572184 PMID:18035688

RGD:2290359, RGD:2290358

NCBI chr10:104,041,604...104,089,214
Ensembl chr10:103,531,505...103,590,611

G

TIMP metallopeptidase inhibitor 3

mRNA:decreased expression:kidney

RGD

NCBI chr 7:19,408,539...19,459,558
Ensembl chr 7:17,521,919...17,571,839

G

TIMP metallopeptidase inhibitor 4

mRNA:decreased expression:kidney

RGD

NCBI chr 4:149,978,667...149,985,350
Ensembl chr 4:148,304,490...148,312,558

G

toll-like receptor 9

severity

protein:decreased expression:tumor, cytoplasm (human)

RGD

NCBI chr 8:115,743,407...115,747,523
Ensembl chr 8:106,864,680...106,868,796

G

tumor necrosis factor

RGD

PMID:19384924 PMID:19904265

RGD:2315119, RGD:2315113

NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629

G

TNF receptor superfamily member 10b

mRNA:increased expression:kidney

RGD

PMID:16865223 PMID:17184908

RGD:2290496, RGD:2290491

NCBI chr15:51,249,883...51,278,091
Ensembl chr15:44,840,386...44,867,467

G

TNF receptor superfamily member 1A

protein:increased expression:serum (human)

RGD

NCBI chr 4:159,837,119...159,849,817
Ensembl chr 4:158,150,820...158,163,591

G

TNF receptor superfamily member 1B

RGD

NCBI chr 5:162,356,250...162,387,411
Ensembl chr 5:157,070,642...157,104,206

G

TNF superfamily member 10

CTD Direct Evidence: therapeutic

NCBI chr 2:112,136,550...112,155,903
Ensembl chr 2:110,207,916...110,225,135

G

tumor protein p53

disease_progression

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:1349175 PMID:1565143 PMID:1565144 PMID:1631137 PMID:1644930 More...

NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524

G

tumor protein p73

RGD

NCBI chr 5:169,903,801...169,988,075
Ensembl chr 5:164,621,377...164,681,128

G

TSC complex subunit 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:32,367,434...32,416,565
Ensembl chr 3:11,979,729...12,015,674

G

TSC complex subunit 2

treatment

DNA:nonsense mutations;missense mutations; splice-site mutation:multiple

RGD

PMID:10096549 PMID:10029074 PMID:18695678

RGD:11568655, RGD:68666, RGD:11568661

NCBI chr10:14,125,679...14,160,317
Ensembl chr10:13,621,136...13,655,951

G

thioredoxin interacting protein

DNA, mRNA, protein:hypermethylation, decreased expression:promoter, kidney

RGD

NCBI chr 2:186,781,933...186,785,736
Ensembl chr 2:184,092,991...184,096,886

G

thymidine phosphorylase

severity

protein:increased expression:kidney

RGD

PMID:12614261 PMID:16861722

RGD:2293723, RGD:2293717

NCBI chr 7:122,318,396...122,323,716
Ensembl chr 7:120,438,770...120,443,874
Ensembl chr 7:120,438,770...120,443,874

G

unc-5 netrin receptor C

CTD Direct Evidence: marker/mechanism

NCBI chr 2:230,180,353...230,535,219
Ensembl chr 2:230,180,951...230,535,217

G

ubiquitously transcribed tetratricopeptide repeat containing, Y-linked

mRNA, protein:increased expression:kidney (human)

RGD

PMID:21654818 PMID:23057811

RGD:6907137, RGD:9587837

NCBI chr Y:1,018,111...1,178,493
Ensembl chr Y:924,168...1,103,422

G

vitamin D receptor

GAD

NCBI chr 7:130,864,764...130,916,757
Ensembl chr 7:128,987,981...129,037,677

G

vascular endothelial growth factor A

disease_progression

RGD

NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:14,955,300...14,970,641

G

vascular endothelial growth factor C

RGD

NCBI chr16:44,445,293...44,560,887
Ensembl chr16:37,712,262...37,827,848

G

von Hippel-Lindau tumor suppressor

ClinVar Annotator: match by term: RENAL CELL CARCINOMA WITH PARANEOPLASTIC ERYTHROCYTOSIS | ClinVar Annotator: match by term: Renal adenocarcinoma
ClinVar Annotator: match by term: Renal adenocarcinoma | ClinVar Annotator: match by term: Renal cell carcinoma with paraneoplastic erythrocytosis
CTD Direct Evidence: marker/mechanism

ClinVar
CTD
OMIM
RGD

PMID:7563486 PMID:7660122 PMID:7728151 PMID:7784063 PMID:7977367 More...

NCBI chr 4:148,328,099...148,334,992
Ensembl chr 4:146,772,468...146,779,377

G

vitelline membrane outer layer 1 homolog

CTD Direct Evidence: marker/mechanism

NCBI chr10:55,227,944...55,234,794
Ensembl chr10:55,227,944...55,229,289

G

von Willebrand factor

disease_progression

protein:increased expression:plasma

RGD

NCBI chr 4:160,042,900...160,177,757
Ensembl chr 4:158,360,152...158,491,539

G

Wnt inhibitory factor 1

DNA:hypermethylation:promoter

RGD

NCBI chr 7:58,433,326...58,503,853
Ensembl chr 7:56,548,053...56,618,360

G

Wnt family member 11

RGD

NCBI chr 1:162,545,660...162,565,456
Ensembl chr 1:153,138,197...153,154,294

G

Wnt family member 2

ClinVar Annotator: match by term: Renal adenocarcinoma | ClinVar Annotator: match by term: Renal cell carcinoma | ClinVar Annotator: match by term: Renal cell carcinoma, somatic

NCBI chr 4:47,294,300...47,340,284
Ensembl chr 4:46,333,998...46,374,402

G

X-linked inhibitor of apoptosis

disease_progression

protein:increased expression:kidney

RGD

NCBI chr X:125,756,107...125,803,979
Ensembl chr X:120,897,907...120,934,700

G

X-ray repair cross complementing 1

susceptibility

DNA:SNP: :p.R399Q

RGD

NCBI chr 1:89,268,721...89,296,619
Ensembl chr 1:80,141,207...80,168,701

G

Yip1 domain family, member 3

CTD Direct Evidence: marker/mechanism

NCBI chr 9:14,730,289...14,735,644
Ensembl chr 9:14,730,284...14,735,641

G

zinc finger protein 536

CTD Direct Evidence: marker/mechanism

NCBI chr 1:90,000,359...90,463,423
Ensembl chr 1:90,002,858...90,462,990

G

zinc finger protein 804A

CTD Direct Evidence: marker/mechanism

NCBI chr 3:87,440,496...87,670,872
Ensembl chr 3:67,034,170...67,263,607

Renal Cell Carcinoma 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ankyrin repeat, SAM and basic leucine zipper domain containing 1

ClinVar Annotator: match by term: Renal cell carcinoma 1

NCBI chr 4:47,366,373...47,421,976
Ensembl chr 4:46,400,485...46,456,085

G

ATM serine/threonine kinase

ClinVar Annotator: match by term: Renal cell carcinoma 1

NCBI chr 8:62,724,939...62,829,040
Ensembl chr 8:53,831,093...53,932,437

G

similar to human chromosome 11 open reading frame 65

ClinVar Annotator: match by term: Renal cell carcinoma 1

NCBI chr 8:62,692,123...62,720,951
Ensembl chr 8:53,796,366...53,824,748

G

capping actin protein of muscle Z-line subunit alpha 2

ClinVar Annotator: match by term: Renal cell carcinoma 1

NCBI chr 4:46,944,040...46,979,930
Ensembl chr 4:45,977,807...46,013,864

G

CF transmembrane conductance regulator

ClinVar Annotator: match by term: Renal cell carcinoma 1

NCBI chr 4:47,422,084...47,694,646
Ensembl chr 4:46,560,885...46,728,756

G

catenin beta 1

ClinVar Annotator: match by term: Renal cell carcinoma 1

NCBI chr 8:129,517,576...129,544,661
Ensembl chr 8:120,639,995...120,667,111

G

MET proto-oncogene, receptor tyrosine kinase

ClinVar Annotator: match by term: Renal cell carcinoma 1

PMID:9140397 PMID:9326629 PMID:9536098 PMID:9563489 PMID:9731534 More...

NCBI chr 4:46,756,823...46,864,041
Ensembl chr 4:45,790,791...45,897,876

G

mutS homolog 2

ClinVar Annotator: match by term: Renal cell carcinoma 1

PMID:18325052 PMID:21926548 PMID:24506336 PMID:24763289 PMID:25637381 More...

NCBI chr 6:12,567,368...12,626,534
Ensembl chr 6:6,813,795...6,872,938

G

mechanistic target of rapamycin kinase

ClinVar Annotator: match by term: Renal cell carcinoma 1

PMID:25741868 PMID:28492532

NCBI chr 5:164,167,985...164,277,438
Ensembl chr 5:158,884,804...158,994,311

G

proline rich mitotic checkpoint control factor

ClinVar Annotator: match by term: Renal cell carcinoma 1

NCBI chr 2:173,326,261...173,351,799
Ensembl chr 2:173,326,259...173,351,825

G

succinate dehydrogenase complex iron sulfur subunit B

ClinVar Annotator: match by term: Renal cell carcinoma 1

PMID:18728283 PMID:19576851 PMID:22835832 PMID:24055113 PMID:24092654 More...

NCBI chr 5:158,547,775...158,568,589
Ensembl chr 5:153,264,899...153,314,293

G

suppression of tumorigenicity 7

ClinVar Annotator: match by term: Renal cell carcinoma 1

NCBI chr 4:47,007,568...47,255,639
Ensembl chr 4:46,042,236...46,289,740

G

von Hippel-Lindau tumor suppressor

ClinVar Annotator: match by term: Renal cell carcinoma 1

PMID:7563486 PMID:7784063 PMID:7977367 PMID:7987306 PMID:8493574 More...

NCBI chr 4:148,328,099...148,334,992
Ensembl chr 4:146,772,468...146,779,377

G

Wnt family member 2

ClinVar Annotator: match by term: Renal cell carcinoma 1

NCBI chr 4:47,294,300...47,340,284
Ensembl chr 4:46,333,998...46,374,402

Renal Cell Carcinoma, Xp11-Associated

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

transcription factor binding to IGHM enhancer 3

ClinVar Annotator: match by term: Renal cell carcinoma, Xp11-associated

NCBI chr X:17,401,466...17,414,829
Ensembl chr X:14,729,550...14,742,571

renal oncocytoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

folliculin

CTD Direct Evidence: marker/mechanism

NCBI chr10:45,088,164...45,107,581
Ensembl chr10:44,588,624...44,607,769

renal Wilms' tumor

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BMI1 proto-oncogene, polycomb ring finger

human tumor in mouse model

RGD

NCBI chr17:86,240,683...86,250,044
Ensembl chr17:81,332,214...81,388,690

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

human tumor in mouse model

RGD

NCBI chr 4:77,624,223...77,698,598
Ensembl chr 4:76,624,399...76,687,362

G

glypican 3

disease_progression

mRNA, protein:increased expression:kidney (human)

NCBI chr X:136,789,770...137,157,598
Ensembl chr X:131,868,990...132,236,798

G

H19 imprinted maternally expressed transcript

associated with loss of imprinting;DNA:hypermethylation:promoter, kidney (human)

NCBI chr 1:197,730,698...197,733,374
Ensembl chr 1:197,730,698...197,733,134

G

paired box 2

human tumor in mouse model

RGD

NCBI chr 1:253,555,447...253,646,623
Ensembl chr 1:243,616,606...243,695,321

G

spalt-like transcription factor 1

human tumor in mouse model

RGD

NCBI chr19:34,179,316...34,196,278
Ensembl chr19:18,007,503...18,022,705

G

SIX homeobox 2

human tumor in mouse model

RGD

NCBI chr 6:14,727,756...14,734,219
Ensembl chr 6:8,967,157...8,981,193

G

SUZ12 polycomb repressive complex 2 subunit

human tumor in mouse model

RGD

NCBI chr10:65,464,948...65,510,846
Ensembl chr10:64,966,967...65,012,738

G

TEK receptor tyrosine kinase

human tumor in mouse model

RGD

NCBI chr 5:114,722,815...114,849,535
Ensembl chr 5:109,607,077...109,733,804

G

vascular endothelial growth factor A

human tumor in mouse model

RGD

NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:14,955,300...14,970,641

G

WT1 transcription factor

human tumor in mouse model

RGD

NCBI chr 3:112,019,721...112,068,454
Ensembl chr 3:91,567,001...91,613,643

rhabdoid cancer

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

MYC proto-oncogene, bHLH transcription factor

protein:increased expression:kidney (human)

RGD

NCBI chr 7:95,483,105...95,488,031
Ensembl chr 7:93,593,705...93,598,630

G

piggyBac transposable element derived 5

CTD Direct Evidence: marker/mechanism

NCBI chr19:69,234,171...69,299,315
Ensembl chr19:52,336,751...52,402,397

G

SWI/SNF related BAF chromatin remodeling complex subunit B1

DNA:nonsense mutation, deletions, insertions:multiple (human)
protein:decreased expression:brain, kidney, soft tissue:
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:25009291 PMID:26343384 PMID:9671307 PMID:16528370

RGD:1599055, RGD:155804291

NCBI chr20:12,740,105...12,763,054
Ensembl chr20:12,741,477...12,763,620

Sporadic Papillary Renal Cell Carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

MYC proto-oncogene, bHLH transcription factor

severity

mRNA:increased expression:renal cortex (human)
protein:increased expression:kidney (human)

RGD

PMID:19384955 PMID:17409424

RGD:7240562, RGD:7240563

NCBI chr 7:95,483,105...95,488,031
Ensembl chr 7:93,593,705...93,598,630

transitional cell carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

alpha-1-microglobulin/bikunin precursor

CTD Direct Evidence: therapeutic

NCBI chr 5:81,583,621...81,593,938
Ensembl chr 5:76,568,094...76,578,331

G

angiopoietin 1

disease_progression

RGD

NCBI chr 7:75,415,959...75,668,696
Ensembl chr 7:73,531,486...73,784,067

G

angiopoietin 2

disease_progression

RGD

NCBI chr16:77,790,760...77,841,241
Ensembl chr16:71,088,364...71,138,804

G

annexin A1

severity

mRNA, protein:increased expression:urinary bladder

RGD

NCBI chr 1:227,287,713...227,306,739
Ensembl chr 1:217,861,175...217,877,343

G

apoptotic peptidase activating factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:27,381,392...27,466,772
Ensembl chr 7:25,494,609...25,579,540

G

APC regulator of WNT signaling pathway

DNA:methylation: :

RGD

NCBI chr18:26,138,382...26,196,021
Ensembl chr18:25,864,222...25,922,696

G

apolipoprotein A1

severity

mRNA:decreased expression:urinary bladder
protein:increased expression:urine

RGD

PMID:19399409 PMID:21496341

RGD:2325183, RGD:7241214

NCBI chr 8:55,423,945...55,425,729
Ensembl chr 8:46,527,144...46,529,035

G

amphiregulin

mRNA:increased expression:urinary bladder

RGD

NCBI chr14:17,256,384...17,265,641
Ensembl chr14:16,972,187...16,981,535

G

AT-rich interaction domain 1A

CTD Direct Evidence: marker/mechanism

NCBI chr 5:151,192,014...151,269,291
Ensembl chr 5:145,908,181...145,985,564

G

BCL2, apoptosis regulator

RGD

NCBI chr13:23,204,464...23,366,900
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743

G

Bcl2-like 1

RGD

NCBI chr 3:161,713,777...161,764,844
Ensembl chr 3:141,253,523...141,303,479
Ensembl chr 1:141,253,523...141,303,479

G

baculoviral IAP repeat-containing 5

disease_progression

mRNA:increased expression:urine
protein:increased expression:urinary bladder

RGD

PMID:17559031 PMID:18172282 PMID:17828507

RGD:2298937, RGD:2293093, RGD:2293099

NCBI chr10:103,567,369...103,580,069
Ensembl chr10:103,073,408...103,081,380

G

B-Raf proto-oncogene, serine/threonine kinase

Transitional cell carcinoma

PMID:998613 PMID:2593174 PMID:15112777 PMID:24936033 PMID:25747698 More...

NCBI chr 4:69,329,772...69,476,931
Ensembl chr 4:68,384,649...68,510,463

G

bromodomain containing 4

disease_progression

mRNA,protein:increased expression:bladder:

RGD

NCBI chr 7:11,866,997...11,946,575
Ensembl chr 7:11,216,446...11,295,539

G

basigin

disease_progression

RGD

NCBI chr 7:10,643,788...10,651,005
Ensembl chr 7:9,993,170...10,000,387

G

carbonic anhydrase 9

disease_progression

RGD

NCBI chr 5:62,559,024...62,565,626
Ensembl chr 5:57,763,206...57,769,838

G

caspase 3

RGD

NCBI chr16:52,395,539...52,413,794
Ensembl chr16:45,662,910...45,684,648

G

caveolin 1

disease_progression

protein:increased expression:urinary bladder

RGD

NCBI chr 4:46,606,538...46,639,616
Ensembl chr 4:45,634,918...45,673,705

G

chromobox 7

severity

mRNA:decreased expression:urinary bladder:

RGD

NCBI chr 7:111,460,656...111,479,231
Ensembl chr 7:111,460,656...111,477,973

G

cyclin D1

mRNA, protein:increased expression:urinary bladder
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:12151359 PMID:16896691

NCBI chr 1:209,518,288...209,527,986
Ensembl chr 1:200,089,002...200,098,602

G

cyclin D2

DNA:hypermethylation:urinary bladder, urine

RGD

NCBI chr 4:161,653,048...161,675,422
Ensembl chr 4:159,962,363...159,989,495

G

CD44 molecule

mRNA:splice variants:kidney pelvis, ureter

RGD

NCBI chr 3:109,610,824...109,699,776
Ensembl chr 3:89,157,058...89,244,620

G

Cd82 molecule

RGD

NCBI chr 3:79,387,361...79,431,847
Ensembl chr 3:79,385,887...79,431,809

G

CD9 molecule

disease_progression

protein:decreased expression:urinary bladder

RGD

NCBI chr 4:159,942,553...159,975,463
Ensembl chr 4:158,256,328...158,289,222

G

cyclin-dependent kinase 1

severity

RGD

NCBI chr20:19,265,252...19,280,456
Ensembl chr20:19,266,248...19,281,408

G

cyclin-dependent kinase 4

disease_progression

RGD

NCBI chr 7:64,771,453...64,774,891
Ensembl chr 7:62,883,105...62,942,403

G

cyclin-dependent kinase inhibitor 1A

CTD Direct Evidence: marker/mechanism

PMID:12151359 PMID:18640142

NCBI chr20:7,150,820...7,161,373
Ensembl chr20:7,149,217...7,159,585

G

cyclin-dependent kinase inhibitor 1B

disease_progression

RGD

NCBI chr 4:169,491,273...169,496,500
Ensembl chr 4:167,760,181...167,764,982

G

cyclin-dependent kinase inhibitor 2A

disease_progression

DNA:hypermethylation:promoter

RGD

NCBI chr 5:109,100,763...109,114,448
Ensembl chr 5:103,984,949...104,003,149

G

cyclin-dependent kinase inhibitor 2A, variant 1

disease_progression

DNA:hypermethylation:promoter

RGD

G

cyclin-dependent kinase inhibitor 2A, variant 2

disease_progression

DNA:hypermethylation:promoter

RGD

G

cyclin-dependent kinase inhibitor 2B

mRNA:decreased expression:urinary bladder

RGD

NCBI chr 5:109,123,308...109,134,906
Ensembl chr 5:104,010,680...104,019,050

G

chromodomain helicase DNA binding protein 6

CTD Direct Evidence: marker/mechanism

NCBI chr 3:170,016,204...170,177,480
Ensembl chr 3:149,596,509...149,757,755

G

CREB binding protein

CTD Direct Evidence: marker/mechanism

NCBI chr10:11,842,307...11,968,266
Ensembl chr10:11,335,953...11,461,888

G

colony stimulating factor 3

CTD Direct Evidence: therapeutic

PMID:7525883 PMID:7543010

NCBI chr10:84,157,485...84,159,860
Ensembl chr10:83,661,207...83,663,603

G

catenin alpha 1

RGD

NCBI chr18:27,002,330...27,135,009
Ensembl chr18:26,728,485...26,860,910

G

catenin beta 1

disease_progression

RGD

PMID:16426728 PMID:17363521

RGD:2298486, RGD:2289818

NCBI chr 8:129,517,576...129,544,661
Ensembl chr 8:120,639,995...120,667,111

G

cathepsin B

protein:increased expression:urinary bladder

RGD

NCBI chr15:41,565,607...41,586,479
Ensembl chr15:37,389,629...37,410,500

G

cathepsin H

protein:increased expression:urinary bladder

RGD

NCBI chr 8:99,488,756...99,507,639
Ensembl chr 8:90,608,941...90,627,824

G

death associated protein kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr17:3,935,826...4,096,858
Ensembl chr17:3,930,213...4,090,991

G

death-domain associated protein

RGD

NCBI chr20:4,971,973...4,978,062
Ensembl chr20:4,970,092...4,975,843

G

epidermal growth factor receptor

mRNA:decreased expression:urinary bladder

RGD

PMID:16469638 PMID:3499520

RGD:2289980, RGD:10395259

NCBI chr14:95,378,626...95,551,358
Ensembl chr14:91,177,067...91,344,382

G

E1A binding protein p300

CTD Direct Evidence: marker/mechanism

NCBI chr 7:114,987,857...115,058,652
Ensembl chr 7:113,106,247...113,136,088
Ensembl chr 7:113,106,247...113,136,088

G

erb-b2 receptor tyrosine kinase 2

severity

mRNA:increased expression:urinary bladder
protein:increased expression:urinary bladder

RGD

PMID:14614020 PMID:17987577

RGD:2298506, RGD:2289927

NCBI chr10:83,907,491...83,931,365
Ensembl chr10:83,411,313...83,435,078

G

erb-b2 receptor tyrosine kinase 3

mRNA:increased expression:urinary bladder

RGD

PMID:16469638 PMID:14614020

RGD:2289980, RGD:2298506

NCBI chr 7:1,579,079...1,600,379
Ensembl chr 7:996,225...1,015,525

G

erb-b2 receptor tyrosine kinase 4

mRNA:increased expression:urinary bladder
mRNA:decreased expression:urinary bladder

RGD

PMID:14614020 PMID:16469638

RGD:2298506, RGD:2289980

NCBI chr 9:76,973,386...78,045,633
Ensembl chr 9:69,531,481...70,596,595

G

extra spindle pole bodies like 1, separase

CTD Direct Evidence: marker/mechanism

NCBI chr 7:135,302,460...135,329,570
Ensembl chr 7:133,424,130...133,450,984

G

estrogen receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 6:100,589,553...100,645,240
Ensembl chr 6:94,809,547...94,908,919

G

Fas cell surface death receptor

disease_progression

protein:increased expression:urine
protein:decreased expression

RGD

PMID:16541433 PMID:12470426 PMID:16091761

RGD:2290058, RGD:2290077, RGD:2290075

NCBI chr 1:241,212,155...241,245,774
Ensembl chr 1:231,798,960...231,832,591

G

Fas ligand

disease_progression

RGD

PMID:12470426 PMID:12651606

RGD:2290077, RGD:2290076

NCBI chr13:76,680,885...76,706,042
Ensembl chr13:74,154,954...74,162,215

G

fibroblast growth factor 1

disease_progression

protein:increased expression:urine, urinary bladder

RGD

NCBI chr18:30,937,670...31,023,786
Ensembl chr18:30,686,581...30,772,357

G

fibroblast growth factor 2

protein:decreased expression:urinary bladder

RGD

NCBI chr 2:122,164,454...122,218,796
Ensembl chr 2:120,236,328...120,291,221

G

fibroblast growth factor receptor 2

mRNA, protein:decreased expression:urinary bladder

RGD

NCBI chr 1:194,175,703...194,280,914
Ensembl chr 1:184,745,420...184,850,626

G

fibroblast growth factor receptor 3

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:24121792 PMID:11314002

NCBI chr14:81,211,800...81,227,215
Ensembl chr14:76,987,993...77,003,341

G

gamma-glutamyl hydrolase

CTD Direct Evidence: marker/mechanism

NCBI chr 5:38,326,747...38,349,655
Ensembl chr 5:33,529,880...33,552,787

G

glutathione peroxidase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:117,905,462...117,906,588
Ensembl chr 8:109,026,905...109,028,024

G

glutathione S-transferase mu 1

onset

protein:increased expression:urinary bladder mucosa

RGD

PMID:9111645 PMID:18199464

RGD:2293800, RGD:2293824

NCBI chr 2:198,338,005...198,346,007
Ensembl chr 2:195,649,845...195,655,411

G

glutathione S-transferase theta 1

protein:increased expression:urinary bladder mucosa

RGD

NCBI chr20:12,856,068...12,873,020
Ensembl chr20:12,856,669...12,873,585

G

H19 imprinted maternally expressed transcript

mRNA:increased expression:urinary bladder

RGD

NCBI chr 1:197,730,698...197,733,374
Ensembl chr 1:197,730,698...197,733,134

G

HRas proto-oncogene, GTPase

DNA, mRNA:mutation, increased expression:urinary bladder
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:3433577 PMID:19303097

NCBI chr 1:205,712,625...205,729,406
Ensembl chr 1:196,296,263...196,300,615

G

histamine receptor H 2

CTD Direct Evidence: marker/mechanism

NCBI chr17:10,371,083...10,412,979
Ensembl chr17:10,368,298...10,407,631

G

interferon beta 1

CTD Direct Evidence: therapeutic

NCBI chr 5:108,066,650...108,067,487
Ensembl chr 5:103,020,969...103,021,523

G

insulin-like growth factor binding protein 3

disease_progression

DNA:hypermethylation
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:21347663 PMID:17541304

NCBI chr14:86,270,208...86,277,944
Ensembl chr14:82,056,347...82,064,083

G

lysine demethylase 6A

CTD Direct Evidence: marker/mechanism

NCBI chr X:4,337,466...4,477,100
Ensembl chr X:4,337,750...4,477,062

G

kinase insert domain receptor

disease_progression

RGD

PMID:16515971 PMID:18645275

RGD:2291934, RGD:2301755

NCBI chr14:32,572,031...32,615,204
Ensembl chr14:32,217,871...32,261,018

G

KiSS-1 metastasis-suppressor

RGD

NCBI chr13:47,327,159...47,332,759
Ensembl chr13:44,774,823...44,780,612

G

KISS1 receptor

severity

RGD

NCBI chr 7:9,785,135...9,790,283
Ensembl chr 7:9,785,135...9,788,793

G

lysine methyltransferase 2A

CTD Direct Evidence: marker/mechanism

NCBI chr 8:54,013,547...54,089,219
Ensembl chr 8:45,118,814...45,193,181

G

lysine methyltransferase 2C

CTD Direct Evidence: marker/mechanism

NCBI chr 4:10,353,698...10,755,965
Ensembl chr 4:9,609,627...9,833,539

G

KRAS proto-oncogene, GTPase

mRNA:increased expression:urinary bladder

RGD

NCBI chr 4:179,916,255...179,949,613

G

microRNA 100

CTD Direct Evidence: marker/mechanism

NCBI chr 8:50,798,295...50,798,374
Ensembl chr 8:41,901,225...41,901,304

G

microRNA 145

CTD Direct Evidence: marker/mechanism

NCBI chr18:57,369,983...57,370,070
Ensembl chr18:55,099,640...55,099,727

G

microRNA 205

CTD Direct Evidence: marker/mechanism

NCBI chr13:107,564,535...107,564,642
Ensembl chr13:105,035,878...105,035,985

G

microRNA 34b

CTD Direct Evidence: marker/mechanism

NCBI chr 8:60,306,609...60,306,692
Ensembl chr 8:51,410,244...51,410,327

G

microRNA 532

CTD Direct Evidence: marker/mechanism

NCBI chr X:17,919,185...17,919,263
Ensembl chr X:15,247,315...15,247,393

G

microRNA 99a

CTD Direct Evidence: marker/mechanism

NCBI chr11:29,687,392...29,687,472
Ensembl chr11:16,200,443...16,200,523

G

matrix metallopeptidase 14

RGD

NCBI chr15:31,857,824...31,867,049
Ensembl chr15:27,887,727...27,899,864

G

matrix metallopeptidase 15

RGD

NCBI chr19:9,669,506...9,691,000
Ensembl chr19:9,663,449...9,684,943

G

matrix metallopeptidase 2

protein:increased expression:plasma

RGD

NCBI chr19:30,327,643...30,355,856
Ensembl chr19:14,154,657...14,182,870

G

mutS homolog 2

associated with Lynch syndrome

RGD

NCBI chr 6:12,567,368...12,626,534
Ensembl chr 6:6,813,795...6,872,938

G

methylenetetrahydrofolate reductase

susceptibility

DNA:transversion:cds:g.1298A>C (human)

RGD

NCBI chr 5:163,748,346...163,768,141
Ensembl chr 5:158,465,296...158,483,797

G

N-acetyltransferase 2

susceptibility

DNA:polymorphism

RGD

NCBI chr16:26,974,874...27,005,191
Ensembl chr16:22,208,194...22,238,520

G

nuclear receptor co-repressor 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:47,498,852...47,641,612
Ensembl chr10:46,999,536...47,141,032

G

NRAS proto-oncogene, GTPase

mRNA:increased expression:urinary bladder

RGD

NCBI chr 2:193,271,399...193,282,023
Ensembl chr 2:190,582,918...190,591,626

G

8-oxoguanine DNA glycosylase

severity

DNA:missense mutation:exon:p.S326C (rs1052133) (human)

RGD

NCBI chr 4:148,030,237...148,037,599
Ensembl chr 4:146,474,750...146,484,766

G

poly(A) binding protein, cytoplasmic 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:69,662,513...69,674,806
Ensembl chr 7:67,777,381...67,789,744

G

p21 (RAC1) activated kinase 1

severity

protein:increased expression:urinary bladder

RGD

NCBI chr 1:161,522,399...161,637,623
Ensembl chr 1:152,111,188...152,226,383

G

prohibitin 1

disease_progression

protein:increased expression:urinary bladder

RGD

NCBI chr10:81,102,043...81,114,815
Ensembl chr10:80,605,251...80,618,042

G

phospholipase A2 group 4A

mRNA:increased expression:bladder

RGD

NCBI chr13:64,427,921...64,572,352
Ensembl chr13:61,877,813...62,022,266

G

plasminogen activator, urokinase

severity

protein:increased expression:urinary tract, tumor (human)
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:14644129 PMID:15191676

NCBI chr15:3,505,485...3,511,987
Ensembl chr15:3,456,232...3,462,775

G

POU class 5 homeobox 1

mRNA, protein:increased expression:urinary bladder

RGD

NCBI chr20:3,227,836...3,232,598
Ensembl chr20:3,223,129...3,227,891

G

prominin 1

CTD Direct Evidence: marker/mechanism

NCBI chr14:71,202,303...71,307,008
Ensembl chr14:66,990,160...67,094,527

G

prostaglandin E synthase

protein:increased expression:urinary bladder
mRNA:increased expression:urinary bladder

RGD

PMID:14499677 PMID:16621493

RGD:2300088, RGD:1642457

NCBI chr 3:34,575,643...34,586,987

G

prostaglandin-endoperoxide synthase 2

disease_progression

protein:increased expression:urinary bladder
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:10582676 PMID:10873095 PMID:12151359 PMID:12664575 PMID:18449376

NCBI chr13:64,714,063...64,722,320
Ensembl chr13:62,163,932...62,172,188

G

RAD50 double strand break repair protein

RGD

NCBI chr10:38,310,147...38,362,100
Ensembl chr10:37,808,726...37,861,396

G

Ras association domain family member 1

DNA, protein:hypermethylation, decreased expression:promoter, urinary bladder

RGD

NCBI chr 8:117,103,665...117,114,805
Ensembl chr 8:108,225,023...108,236,164

G

REL proto-oncogene, NF-kB subunit

RGD

NCBI chr14:101,891,238...101,922,324
Ensembl chr14:97,695,161...97,720,892

G

RELB proto-oncogene, NF-kB subunit

mRNA, protein:increased expression:urinary bladder mucosa, nucleus

RGD

NCBI chr 1:88,385,717...88,413,380
Ensembl chr 1:79,257,725...79,285,507

G

stratifin

disease_progression

DNA:hypermethylation:promoter

RGD

NCBI chr 5:151,110,582...151,111,854
Ensembl chr 5:145,826,201...145,831,314

G

S-phase kinase associated protein 2

disease_progression

protein:increased expression:kidney

RGD

NCBI chr 2:59,888,406...59,916,471
Ensembl chr 2:58,161,229...58,189,338

G

solute carrier family 3 member 2

protein:increased expression:bladder

RGD

NCBI chr 1:215,033,601...215,048,064
Ensembl chr 1:205,604,468...205,618,931

G

solute carrier family 7 member 5

protein:increased expression:bladder

RGD

NCBI chr19:66,843,808...66,872,412
Ensembl chr19:49,935,220...49,963,823

G

SMAD family member 4

protein:decreased expression:urinary bladder

RGD

NCBI chr18:69,518,988...69,549,684
Ensembl chr18:67,243,742...67,274,438

G

SRY-box transcription factor 2

disease_progression

RGD

NCBI chr 2:119,465,131...119,467,542
Ensembl chr 2:117,536,929...117,539,338

G

serine peptidase inhibitor, Kazal type 1

disease_progression

protein:increased expression:urine

RGD

NCBI chr18:36,121,626...36,133,596
Ensembl chr18:35,824,550...35,882,642

G

STAG2 cohesin complex component

CTD Direct Evidence: marker/mechanism

NCBI chr X:125,839,660...125,971,209
Ensembl chr X:120,974,857...121,105,677

G

transforming, acidic coiled-coil containing protein 3

CTD Direct Evidence: marker/mechanism

NCBI chr14:81,275,755...81,289,894
Ensembl chr14:77,051,215...77,065,219

G

telomerase RNA component

disease_progression

RNA:increased expression:ureter urothelium

RGD

NCBI chr 2:112,815,654...112,816,041

G

telomerase reverse transcriptase

disease_progression

mRNA:increased expression:urine, urothelial cell

RGD

NCBI chr 1:31,465,766...31,488,650
Ensembl chr 1:29,637,506...29,659,561

G

trefoil factor 1

protein:increased expression:urinary bladder urothelium

RGD

NCBI chr20:9,237,095...9,240,956
Ensembl chr20:9,235,736...9,239,597

G

transferrin receptor

disease_progression

RGD

NCBI chr11:81,668,478...81,690,318
Ensembl chr11:68,163,413...68,185,257

G

TIMP metallopeptidase inhibitor 1

protein:decreased expression:plasma

RGD

NCBI chr X:3,766,509...3,772,578
Ensembl chr X:1,212,972...1,217,664

G

TIMP metallopeptidase inhibitor 2

protein:decreased expression:plasma

RGD

NCBI chr10:104,041,604...104,089,214
Ensembl chr10:103,531,505...103,590,611

G

tumor necrosis factor

CTD Direct Evidence: therapeutic

NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629

G

tumor protein p53

protein:increased expression:bladder
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:22929185 PMID:18270948

NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524

G

tumor protein p63

RGD

NCBI chr11:88,343,647...88,554,543
Ensembl chr11:74,838,859...75,049,398

G

tumor protein p73

disease_progression

mRNA:increased expression:kidney

RGD

NCBI chr 5:169,903,801...169,988,075
Ensembl chr 5:164,621,377...164,681,128

G

thymidine phosphorylase

RGD

NCBI chr 7:122,318,396...122,323,716
Ensembl chr 7:120,438,770...120,443,874
Ensembl chr 7:120,438,770...120,443,874

G

vitamin D receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 7:130,864,764...130,916,757
Ensembl chr 7:128,987,981...129,037,677

G

exportin 5

severity

mRNA:increased expression:urothelium (human)

RGD

NCBI chr 9:22,237,760...22,275,745
Ensembl chr 9:14,740,182...14,778,171

G

X-ray repair cross complementing 1

susceptibility

DNA:SNP: :p.R194W

RGD

NCBI chr 1:89,268,721...89,296,619
Ensembl chr 1:80,141,207...80,168,701

Ureteral Neoplasms

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aryl hydrocarbon receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 6:57,961,423...57,998,901
Ensembl chr 6:52,234,089...52,271,568

urinary bladder cancer

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

acetylcholinesterase

CTD Direct Evidence: marker/mechanism

NCBI chr12:25,042,882...25,050,608
Ensembl chr12:19,407,360...19,413,651

G

AKT serine/threonine kinase 1

disease_progression

protein:increased expression:urinary bladder
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:36115647 PMID:18190825

NCBI chr 6:137,534,810...137,555,131
Ensembl chr 6:131,713,720...131,733,921

G

arachidonate 12-lipoxygenase, 12S type

protein:increased expression:urinary bladder

RGD

NCBI chr10:55,456,923...55,469,239
Ensembl chr10:54,958,271...54,970,542

G

alpha-methylacyl-CoA racemase

severity

RGD

NCBI chr 2:61,673,291...61,685,381
Ensembl chr 2:59,946,153...59,958,255

G

autocrine motility factor receptor

CTD Direct Evidence: marker/mechanism

NCBI chr19:11,002,451...11,038,182
Ensembl chr19:10,996,099...11,032,247

G

angiogenin

protein:increased expression:plasma
protein:increased expression:urine

RGD

PMID:15912517 PMID:15329320

RGD:2325700, RGD:2325704

NCBI chr15:26,786,233...26,796,883

G

ankyrin repeat and FYVE domain containing 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:57,810,781...57,882,495
Ensembl chr10:57,312,246...57,383,964

G

alanyl aminopeptidase, membrane

CTD Direct Evidence: marker/mechanism

NCBI chr 1:143,176,645...143,219,447
Ensembl chr 1:133,767,332...133,785,789

G

apurinic/apyrimidinic endodeoxyribonuclease 1

susceptibility

RGD

NCBI chr15:26,618,146...26,620,330
Ensembl chr15:24,144,362...24,146,785

G

aquaporin 3 (Gill blood group)

CTD Direct Evidence: marker/mechanism

NCBI chr 5:61,035,165...61,040,683
Ensembl chr 5:56,239,201...56,244,720

G

amphiregulin

disease_progression

mRNA:increased expression:urinary bladder

RGD

PMID:11507076 PMID:11133810

RGD:2292661, RGD:2292662

NCBI chr14:17,256,384...17,265,641
Ensembl chr14:16,972,187...16,981,535

G

AT-rich interaction domain 1A

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Malignant tumor of urinary bladder

PMID:21822268 PMID:25741868 PMID:32888375 PMID:34942405

NCBI chr 5:151,192,014...151,269,291
Ensembl chr 5:145,908,181...145,985,564

G

arsenite methyltransferase

CTD Direct Evidence: marker/mechanism

PMID:22747749 PMID:29669044 PMID:29859237 PMID:32539094

NCBI chr 1:255,536,879...255,569,245
Ensembl chr 1:245,596,108...245,627,872

G

ArfGAP with SH3 domain, ankyrin repeat and PH domain 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:97,675,354...97,982,523
Ensembl chr 7:95,787,818...96,092,754

G

ASXL transcriptional regulator 2

CTD Direct Evidence: marker/mechanism

NCBI chr 6:26,425,017...26,514,899
Ensembl chr 6:26,425,954...26,507,477

G

ATM serine/threonine kinase

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Malignant tumor of urinary bladder
ClinVar Annotator: match by term: Bladder cancer | ClinVar Annotator: match by term: Malignant tumor of urinary bladder

PMID:8755918 PMID:9043869 PMID:9450874 PMID:9463314 PMID:9497252 More...

NCBI chr 8:62,724,939...62,829,040
Ensembl chr 8:53,831,093...53,932,437

G

ATP synthase F1 subunit delta

CTD Direct Evidence: marker/mechanism

NCBI chr 7:10,211,260...10,218,989
Ensembl chr 7:9,560,608...9,565,929

G

ATP synthase membrane subunit c locus 2

DNA:hypermethylation:promoter

RGD

NCBI chr 7:133,791,341...133,799,713
Ensembl chr 7:133,791,342...133,799,733

G

aurora kinase A

disease_progression

mRNA, protein:increased expression:urinary bladder

RGD

NCBI chr 3:181,546,742...181,562,890
Ensembl chr 3:161,128,313...161,144,390

G

axin 1

susceptibility

DNA:SNPs:5'utr: (rs12921862, rs1805105, rs370681) (human)

RGD

NCBI chr10:15,667,894...15,720,092
Ensembl chr10:15,163,684...15,215,615

G

BRCA1 associated deubiquitinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr16:6,453,126...6,461,952
Ensembl chr16:6,446,709...6,455,535

G

BCL2 associated X, apoptosis regulator

RGD

NCBI chr 1:105,076,472...105,081,906
Ensembl chr 1:95,938,808...95,945,368

G

BCL2, apoptosis regulator

severity

DNA:hypermethylation:promoter
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:36115647 PMID:18094410 PMID:18342927

RGD:2293014, RGD:2292910

NCBI chr13:23,204,464...23,366,900
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743

G

Bcl2-like 1

disease_progression

RGD

NCBI chr 3:161,713,777...161,764,844
Ensembl chr 3:141,253,523...141,303,479
Ensembl chr 1:141,253,523...141,303,479

G

baculoviral IAP repeat-containing 3

CTD Direct Evidence: marker/mechanism

NCBI chr 8:13,285,702...13,313,329
Ensembl chr 8:5,000,845...5,015,802

G

baculoviral IAP repeat-containing 5

disease_progression

protein:increased expression:urinary bladder

RGD

PMID:17905101 PMID:18089718

RGD:2293096, RGD:2293094

NCBI chr10:103,567,369...103,580,069
Ensembl chr10:103,073,408...103,081,380

G

bromodomain PHD finger transcription factor

CTD Direct Evidence: marker/mechanism

NCBI chr10:92,480,007...92,582,485
Ensembl chr10:91,982,758...92,082,769

G

BRCA1, DNA repair associated

DNA:hypermethylation:promoter
ClinVar Annotator: match by term: Malignant tumor of urinary bladder

PMID:7894493 PMID:8460636 PMID:8554067 PMID:8968102 PMID:9150154 More...

NCBI chr10:86,917,693...86,978,012
Ensembl chr10:86,418,000...86,477,304

G

BRCA2, DNA repair associated

ClinVar Annotator: match by term: Malignant tumor of urinary bladder

PMID:2673801 PMID:8673091 PMID:8896551 PMID:8988179 PMID:9150172 More...

NCBI chr12:4,895,092...4,939,340
Ensembl chr12:59,819...100,567

G

similar to human chromosome 11 open reading frame 65

ClinVar Annotator: match by term: Malignant tumor of urinary bladder

PMID:8755918 PMID:9450874 PMID:9463314 PMID:9497252 PMID:9733514 More...

NCBI chr 8:62,692,123...62,720,951
Ensembl chr 8:53,796,366...53,824,748

G

calcium homeostasis modulator 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:246,030,269...246,032,988
Ensembl chr 1:246,030,269...246,032,988

G

carbonic anhydrase 9

disease_progression

RGD

NCBI chr 5:62,559,024...62,565,626
Ensembl chr 5:57,763,206...57,769,838

G

caspase 3

disease_progression

RGD

NCBI chr16:52,395,539...52,413,794
Ensembl chr16:45,662,910...45,684,648

G

caspase 9

susceptibility
disease_progression

DNA:polymorphism, deletion: :1263A>G, 293del (human)
DNA:SNP:exon:p.Q221R (rs1052576) (human)

RGD

PMID:19412632 PMID:19252927

RGD:2315929, RGD:2315930

Ensembl chr 5:154,109,046...154,126,626

G

catalase

CTD Direct Evidence: marker/mechanism

NCBI chr 3:110,297,340...110,329,526
Ensembl chr 3:89,842,399...89,874,478

G

caveolin 1

severity

protein:increased expression:urinary bladder

RGD

NCBI chr 4:46,606,538...46,639,616
Ensembl chr 4:45,634,918...45,673,705

G

chromobox 7

severity

mRNA:decreased expression:urinary bladder (human)

RGD

NCBI chr 7:111,460,656...111,479,231
Ensembl chr 7:111,460,656...111,477,973

G

cyclin D1

protein:increased expression:bladder
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:36115647 PMID:12372886

NCBI chr 1:209,518,288...209,527,986
Ensembl chr 1:200,089,002...200,098,602

G

cyclin D3

disease_progression

RGD

NCBI chr 9:20,891,696...20,987,199
Ensembl chr 9:13,394,169...13,489,371

G

cyclin E1

severity
disease_progression

protein:decreased expression:urinary bladder
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:20972438 PMID:27514407 PMID:16739882 PMID:18047954

RGD:2289267, RGD:2296035

NCBI chr 1:99,918,672...99,927,986
Ensembl chr 1:90,781,949...90,791,101

G

cyclin G1

mRNA:decreased expression:bladder (human)

RGD

NCBI chr10:25,678,503...25,684,876
Ensembl chr10:25,176,234...25,181,641

G

CD40 ligand

treatment

RGD

NCBI chr X:140,164,341...140,176,057
Ensembl chr X:135,126,969...135,138,306

G

CD44 molecule

RGD

NCBI chr 3:109,610,824...109,699,776
Ensembl chr 3:89,157,058...89,244,620

G

Cd82 molecule

disease_progression

protein:decreased expression:urinary bladder

RGD

PMID:14706010 PMID:17290345

RGD:2289401, RGD:2289391

NCBI chr 3:79,387,361...79,431,847
Ensembl chr 3:79,385,887...79,431,809

G

CD9 molecule

disease_progression

RGD

NCBI chr 4:159,942,553...159,975,463
Ensembl chr 4:158,256,328...158,289,222

G

cell division cycle 25A

RGD

NCBI chr 8:118,742,824...118,761,190
Ensembl chr 8:109,864,478...109,882,701

G

cell division cycle 25B

disease_progression

RGD

NCBI chr 3:138,860,148...138,870,287
Ensembl chr 3:118,407,128...118,417,272

G

cadherin 1

disease_progression

protein:decreased expression:urinary bladder
CTD Direct Evidence: marker/mechanism
Protein:increased expression:cytoplasm

CTD
RGD

PMID:17520682 PMID:26901067 PMID:17760743 PMID:17167984

RGD:2289491, RGD:1599549

NCBI chr19:51,402,178...51,471,572
Ensembl chr19:34,492,371...34,561,775

G

cadherin 13

DNA:hypermethylation:promoter

RGD

NCBI chr19:63,258,251...64,296,122
Ensembl chr19:46,349,430...47,387,459

G

cyclin-dependent kinase 1

RGD

NCBI chr20:19,265,252...19,280,456
Ensembl chr20:19,266,248...19,281,408

G

cyclin-dependent kinase 4

disease_progression

protein:increased expression:urinary bladder
DNA:amplification

RGD

PMID:16896691 PMID:11971182

RGD:2289144, RGD:2299056

NCBI chr 7:64,771,453...64,774,891
Ensembl chr 7:62,883,105...62,942,403

G

cyclin-dependent kinase inhibitor 1A

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Malignant tumor of urinary bladder

NCBI chr20:7,150,820...7,161,373
Ensembl chr20:7,149,217...7,159,585

G

cyclin-dependent kinase inhibitor 1B

susceptibility
disease_progression

RGD

PMID:18027869 PMID:18334837

RGD:2293595, RGD:2293592

NCBI chr 4:169,491,273...169,496,500
Ensembl chr 4:167,760,181...167,764,982

G

cyclin-dependent kinase inhibitor 2A

DNA:hypermethylation:promoter
ClinVar Annotator: match by term: Malignant tumor of urinary bladder
CTD Direct Evidence: marker/mechanism|therapeutic
DNA:deletion
protein:increased expression:urinary bladder

ClinVar
CTD
RGD

PMID:7777061 PMID:7987387 PMID:8668202 PMID:8755727 PMID:8834170 More...

RGD:2296052, RGD:2289687, RGD:2296048

NCBI chr 5:109,100,763...109,114,448
Ensembl chr 5:103,984,949...104,003,149

G

cyclin-dependent kinase inhibitor 2A, variant 1

DNA:deletion

RGD

G

cyclin-dependent kinase inhibitor 2B

disease_progression

DNA:deletion:urinary bladder

RGD

PMID:15590562 PMID:16624482

RGD:2289696, RGD:7248757

NCBI chr 5:109,123,308...109,134,906
Ensembl chr 5:104,010,680...104,019,050

G

chromodomain helicase DNA binding protein 6

CTD Direct Evidence: marker/mechanism

NCBI chr 3:170,016,204...170,177,480
Ensembl chr 3:149,596,509...149,757,755

G

checkpoint kinase 2

susceptibility
treatment

DNA:mutations: :multiple

RGD

PMID:17918154 PMID:21396995

RGD:2289704, RGD:10401655

NCBI chr12:51,448,838...51,481,159
Ensembl chr12:45,788,827...45,821,286

G

CLPTM1-like

CTD Direct Evidence: marker/mechanism

NCBI chr 1:31,496,094...31,512,148
Ensembl chr 1:29,667,545...29,683,530

G

collagen type VI alpha 3 chain

mRNA, protein:increased expression:bladder (human)

RGD

NCBI chr 9:98,809,171...98,887,060
Ensembl chr 9:91,361,583...91,439,471

G

catechol-O-methyltransferase

protein:increased expression:urinary bladder, urine

RGD

NCBI chr11:96,072,371...96,091,956
Ensembl chr11:82,568,025...82,587,642

G

CREB binding protein

CTD Direct Evidence: marker/mechanism

NCBI chr10:11,842,307...11,968,266
Ensembl chr10:11,335,953...11,461,888

G

colony stimulating factor 3

CTD Direct Evidence: therapeutic

PMID:7525883 PMID:17515069

NCBI chr10:84,157,485...84,159,860
Ensembl chr10:83,661,207...83,663,603

G

catenin alpha 1

disease_progression

RGD

NCBI chr18:27,002,330...27,135,009
Ensembl chr18:26,728,485...26,860,910

G

catenin alpha 3

ClinVar Annotator: match by term: Malignant tumor of urinary bladder

NCBI chr20:23,613,016...25,198,699
Ensembl chr20:23,623,560...25,199,978

G

catenin beta 1

disease_progression

ClinVar Annotator: match by term: Malignant tumor of urinary bladder
OMIM:109800

ClinVar
MouseDO
RGD

PMID:10192393 PMID:10666372 PMID:26822237 PMID:17175927

NCBI chr 8:129,517,576...129,544,661
Ensembl chr 8:120,639,995...120,667,111

G

cathepsin B

protein:increased activity:transitional cell carcinoma (human)

RGD

NCBI chr15:41,565,607...41,586,479
Ensembl chr15:37,389,629...37,410,500

G

C-X-C motif chemokine receptor 2

DNA:SNP

RGD

NCBI chr 9:83,178,645...83,185,017
Ensembl chr 9:75,729,115...75,739,425

G

cytochrome P450, family 17, subfamily a, polypeptide 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:255,476,861...255,484,547
Ensembl chr 1:245,535,462...245,541,573

G

cytochrome P450, family 19, subfamily a, polypeptide 1

RGD

NCBI chr 8:63,449,148...63,476,534
Ensembl chr 8:54,553,165...54,580,758

G

cytochrome P450, family 1, subfamily a, polypeptide 1

no_association

DNA:polymorphisms: :3801T>C (human)
DNA:polymorphism: :2455A>G (human)

RGD

PMID:21990318 PMID:18200441 PMID:18979064

RGD:7257730, RGD:7257736, RGD:7257733

NCBI chr 8:66,991,940...66,998,014
Ensembl chr 8:58,096,077...58,102,125

G

cytochrome P450, family 1, subfamily b, polypeptide 1

RGD

NCBI chr 6:21,093,927...21,103,091
Ensembl chr 6:15,342,344...15,350,917

G

cytochrome P450, subfamily 2, polypeptide 11

RGD

NCBI chr 1:246,175,216...246,211,445
Ensembl chr 1:236,762,842...236,799,066

G

cytochrome P450, family 4, subfamily b, polypeptide 1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:134,375,807...134,413,635
Ensembl chr 5:129,139,038...129,156,348

G

death associated protein kinase 1

DNA:hypermethylation

RGD

NCBI chr17:3,935,826...4,096,858
Ensembl chr17:3,930,213...4,090,991

G

DNA methyltransferase 1

protein:increased expression (in humans)

RGD

NCBI chr 8:27,716,797...27,763,405
Ensembl chr 8:19,440,611...19,486,659

G

dual specificity phosphatase 1

disease_progression

RGD

NCBI chr10:17,184,853...17,187,646

G

E2F transcription factor 1

disease_progression

mRNA:increased expression:bladder

RGD

NCBI chr 3:163,524,739...163,535,563
Ensembl chr 3:143,049,478...143,075,361

G

eukaryotic translation elongation factor 1 epsilon 1

disease_progression

protein:decreased expression:urothelium:

RGD

NCBI chr17:26,354,247...26,364,953
Ensembl chr17:26,148,633...26,215,720

G

epidermal growth factor receptor

disease_progression

protein:increased expression:urinary bladder
ClinVar Annotator: match by term: Malignant tumor of urinary bladder
CTD Direct Evidence: marker/mechanism

ClinVar
CTD
RGD

PMID:11723127 PMID:23523951 PMID:28492532 PMID:18006009 PMID:16685269

RGD:2289943, RGD:2298502

NCBI chr14:95,378,626...95,551,358
Ensembl chr14:91,177,067...91,344,382

G

enolase 2

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:22613180 PMID:17951193

NCBI chr 4:159,258,371...159,267,220
Ensembl chr 4:157,572,088...157,580,980

G

eomesodermin

CTD Direct Evidence: marker/mechanism

NCBI chr 8:127,059,215...127,067,070
Ensembl chr 8:118,181,777...118,188,316

G

E1A binding protein p300

CTD Direct Evidence: marker/mechanism

NCBI chr 7:114,987,857...115,058,652
Ensembl chr 7:113,106,247...113,136,088
Ensembl chr 7:113,106,247...113,136,088

G

epoxide hydrolase 1

disease_progression

DNA:SNPs

RGD

NCBI chr13:95,246,079...95,275,852
Ensembl chr13:92,714,315...92,790,235

G

erb-b2 receptor tyrosine kinase 2

disease_progression

ClinVar Annotator: match by term: Malignant tumor of urinary bladder
CTD Direct Evidence: marker/mechanism

ClinVar
CTD
RGD

PMID:34291863 PMID:16685269 PMID:16771730

RGD:2298502, RGD:2289934

NCBI chr10:83,907,491...83,931,365
Ensembl chr10:83,411,313...83,435,078

G

erb-b2 receptor tyrosine kinase 3

disease_progression

ClinVar Annotator: match by term: Malignant tumor of urinary bladder

NCBI chr 7:1,579,079...1,600,379
Ensembl chr 7:996,225...1,015,525

G

erb-b2 receptor tyrosine kinase 4

disease_progression

protein:decreased expression:urinary bladder

RGD

PMID:18006009 PMID:16685269

RGD:2289943, RGD:2298502

NCBI chr 9:76,973,386...78,045,633
Ensembl chr 9:69,531,481...70,596,595

G

ERCC excision repair 2, TFIIH core complex helicase subunit

disease_progression

ClinVar Annotator: match by term: Malignant tumor of urinary bladder
CTD Direct Evidence: marker/mechanism

ClinVar
CTD
RGD

PMID:9238033 PMID:11335038 PMID:19085937 PMID:19934020 PMID:24121791 More...

NCBI chr 1:88,161,342...88,175,102
Ensembl chr 1:79,033,326...79,047,102

G

ERCC excision repair 4, endonuclease catalytic subunit

CTD Direct Evidence: marker/mechanism

NCBI chr10:2,926,085...2,958,176
Ensembl chr10:2,419,038...2,448,369
Ensembl chr10:2,419,038...2,448,369

G

extra spindle pole bodies like 1, separase

CTD Direct Evidence: marker/mechanism

NCBI chr 7:135,302,460...135,329,570
Ensembl chr 7:133,424,130...133,450,984

G

estrogen receptor 1

CTD Direct Evidence: marker/mechanism

PMID:16712894 PMID:35764155

NCBI chr 1:43,511,685...43,904,454
Ensembl chr 1:41,210,475...41,495,002

G

estrogen receptor 2

severity

protein:increased expression:urinary bladder urothelium (human)
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:16700038 PMID:23612777

NCBI chr 6:100,589,553...100,645,240
Ensembl chr 6:94,809,547...94,908,919

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

mRNA:increased expression:urinary bladder

RGD

NCBI chr 4:77,624,223...77,698,598
Ensembl chr 4:76,624,399...76,687,362

G

coagulation factor II, thrombin

severity

protein:increased expression:urine

RGD

NCBI chr 3:98,051,958...98,065,246
Ensembl chr 3:77,596,198...77,609,486

G

FA complementation group A

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:24121791 PMID:19237606

NCBI chr19:51,304,126...51,362,586
Ensembl chr19:51,304,021...51,362,527

G

Fas cell surface death receptor

susceptibility

DNA:polymorphisms:promoter:-1377G>A,-670A>G
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:9070496 PMID:16538171

NCBI chr 1:241,212,155...241,245,774
Ensembl chr 1:231,798,960...231,832,591

G

Fas ligand

susceptibility

DNA:polymorphisms:promoter:-844T>C

RGD

NCBI chr13:76,680,885...76,706,042
Ensembl chr13:74,154,954...74,162,215

G

F-box and WD repeat domain containing 8

CTD Direct Evidence: marker/mechanism

NCBI chr12:44,087,375...44,177,985
Ensembl chr12:38,426,444...38,516,424

G

FERM domain containing kindlin 2

CTD Direct Evidence: marker/mechanism

NCBI chr15:21,162,603...21,257,995
Ensembl chr15:18,682,927...18,751,811

G

fibroblast growth factor 1

RGD

NCBI chr18:30,937,670...31,023,786
Ensembl chr18:30,686,581...30,772,357

G

fibroblast growth factor 2

RGD

NCBI chr 2:122,164,454...122,218,796
Ensembl chr 2:120,236,328...120,291,221

G

fibroblast growth factor receptor 2

DNA:hypermethylation, loss of heterozygosity, deletions:exon (human)
associated with Acrocephalosyndactylia (MeSH:D000168)

RGD

PMID:10602477 PMID:16969861

RGD:2301193, RGD:2289664

NCBI chr 1:194,175,703...194,280,914
Ensembl chr 1:184,745,420...184,850,626

G

fibroblast growth factor receptor 3

severity
disease_progression

DNA:mutations
ClinVar Annotator: match by term: Bladder cancer | ClinVar Annotator: match by term: Malignant tumor of urinary bladder | ClinVar Annotator: match by term: Urinary bladder cancer
CTD Direct Evidence: marker/mechanism
protein:increased expression:urinary bladder

ClinVar
CTD
OMIM
RGD

PMID:1908846 PMID:7647778 PMID:7649548 PMID:7670477 PMID:7702086 More...

RGD:2301223, RGD:2301224, RGD:2301225, RGD:2301222, RGD:2289864

NCBI chr14:81,211,800...81,227,215
Ensembl chr14:76,987,993...77,003,341

G

fragile histidine triad diadenosine triphosphatase

protein:decreased expression:urinary bladder
associated with Schistosomiasis;DNA:hypermethylation:urinary bladder

RGD

PMID:15591090 PMID:11751381 PMID:15154012

RGD:2301232, RGD:2289897, RGD:2301233

NCBI chr15:16,365,401...17,872,901
Ensembl chr15:13,934,995...15,442,340

G

fibronectin 1

protein:increased expression:urine

RGD

NCBI chr 9:80,645,507...80,714,200
Ensembl chr 9:73,196,044...73,264,678

G

gamma-glutamyl hydrolase

CTD Direct Evidence: marker/mechanism

NCBI chr 5:38,326,747...38,349,655
Ensembl chr 5:33,529,880...33,552,787

G

GLI family zinc finger 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:65,042,237...65,054,888
Ensembl chr 7:63,156,926...63,169,251

G

glutathione peroxidase 1

CTD Direct Evidence: marker/mechanism

PMID:15247771 PMID:35764155

NCBI chr 8:117,905,462...117,906,588
Ensembl chr 8:109,026,905...109,028,024

G

glycogen synthase kinase 3 beta

CTD Direct Evidence: marker/mechanism

NCBI chr11:76,004,502...76,154,665
Ensembl chr11:62,504,316...62,648,646

G

glutathione S-transferase mu 1

susceptibility

DNA:deletion: : (human)
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:18505952 PMID:20972438 PMID:18544563

NCBI chr 2:198,338,005...198,346,007
Ensembl chr 2:195,649,845...195,655,411

G

glutathione S-transferase omega 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:256,673,376...256,695,154
Ensembl chr 1:246,732,089...246,753,866

G

glutathione S-transferase pi 1

CTD Direct Evidence: marker/mechanism
mRNA:increased expression:urinary bladder

CTD
RGD

PMID:7729958 PMID:12500666 PMID:22306368 PMID:18544563 PMID:21213404 More...

RGD:6906879, RGD:10401939, RGD:6906883

NCBI chr 1:210,767,237...210,770,242
Ensembl chr 1:201,321,672...201,340,226

G

glutathione S-transferase theta 1

susceptibility

DNA:deletion: : (human)

RGD

NCBI chr20:12,856,068...12,873,020
Ensembl chr20:12,856,669...12,873,585

G

glutathione S-transferase zeta 1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:112,525,576...112,536,228
Ensembl chr 6:106,794,074...106,805,284

G

H19 imprinted maternally expressed transcript

DNA:hypomethylation
DNA:SNP
mRNA:increased expression:urinary bladder

RGD

PMID:18950807 PMID:11726548 PMID:18262338 PMID:9886562

RGD:2306168, RGD:2306180, RGD:2306171, RGD:2306184

NCBI chr 1:197,730,698...197,733,374
Ensembl chr 1:197,730,698...197,733,134

G

histone deacetylase 4

CTD Direct Evidence: marker/mechanism

NCBI chr 9:99,950,972...100,200,994
Ensembl chr 9:92,507,611...92,750,164

G

hypoxia inducible factor 1 subunit alpha

CTD Direct Evidence: marker/mechanism

NCBI chr 6:98,357,788...98,405,068
Ensembl chr 6:92,624,390...92,669,261

G

hexokinase 1

treatment

RGD

NCBI chr20:30,773,222...30,874,814
Ensembl chr20:30,230,486...30,332,131

G

hydroxymethylbilane synthase

urinary bladder transitional cell carcinoma; mRNA:decreased expression:tumor:in matched malignant and non-malignant sample pairs (p = 0.008) (human)

RGD

NCBI chr 8:53,570,364...53,577,758
Ensembl chr 8:44,673,554...44,680,957

G

high mobility group box 3

CTD Direct Evidence: marker/mechanism

NCBI chr X:154,341,106...154,346,087
Ensembl chr X:149,296,375...149,301,292

G

high mobility group nucleosome binding domain 5

CTD Direct Evidence: marker/mechanism

NCBI chr X:78,161,439...78,170,613
Ensembl chr X:74,085,875...74,094,441
Ensembl chr 1:74,085,875...74,094,441

G

homeobox A9

CTD Direct Evidence: marker/mechanism

NCBI chr 4:82,653,847...82,659,958
Ensembl chr 4:81,323,382...81,326,358

G

HRas proto-oncogene, GTPase

disease_progression

ClinVar Annotator: match by term: Bladder cancer | ClinVar Annotator: match by term: Malignant tumor of urinary bladder | ClinVar Annotator: match by term: Urinary bladder cancer
CTD Direct Evidence: marker/mechanism

ClinVar
CTD
OMIM
RGD

PMID:2228319 PMID:2278634 PMID:2999610 PMID:3537694 PMID:6092966 More...

RGD:2314833, RGD:11060144

NCBI chr 1:205,712,625...205,729,406
Ensembl chr 1:196,296,263...196,300,615

G

heat shock protein family A (Hsp70) member 1A

treatment

RGD

NCBI chr20:3,875,411...3,877,866
Ensembl chr20:3,856,006...3,873,227

G

intercellular adhesion molecule 1

protein:increased expression:serum:

RGD

NCBI chr 8:27,829,688...27,841,618
Ensembl chr 8:19,553,645...19,565,438

G

interferon beta 1

CTD Direct Evidence: therapeutic

NCBI chr 5:108,066,650...108,067,487
Ensembl chr 5:103,020,969...103,021,523

G

interferon gamma

treatment

protein:decreased expression:serum

RGD

PMID:22906662 PMID:11219496

RGD:6893349, RGD:8157619

NCBI chr 7:55,789,180...55,793,216
Ensembl chr 7:53,903,337...53,907,375

G

insulin-like growth factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:24,169,608...24,249,446
Ensembl chr 7:22,282,930...22,359,296

G

insulin-like growth factor binding protein 3

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:21347663 PMID:12544349

NCBI chr14:86,270,208...86,277,944
Ensembl chr14:82,056,347...82,064,083

G

insulin-like growth factor binding protein 5

CTD Direct Evidence: marker/mechanism

NCBI chr 9:81,901,605...81,914,187
Ensembl chr 9:74,448,382...74,465,156

G

immunoglobin superfamily, member 21

CTD Direct Evidence: marker/mechanism

NCBI chr 5:152,287,834...152,512,174
Ensembl chr 5:152,287,835...152,512,174

G

interleukin 1 beta

disease_progression

mRNA:increased expression:urinary bladder tumor (human)

RGD

NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:116,577,010...116,583,415

G

interleukin 1 receptor antagonist

susceptibility

DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human)
DNA:repeats:intron:IVS2+914_1000dup multiple (human)

RGD

PMID:19489682 PMID:16698387

RGD:6907081, RGD:6907367

NCBI chr 3:27,509,836...27,525,738
Ensembl chr 3:7,111,550...7,127,445

G

interleukin 2

treatment

CTD Direct Evidence: therapeutic

CTD
RGD

PMID:1949363 PMID:3495671 PMID:3262172

NCBI chr 2:121,932,968...121,937,672
Ensembl chr 2:120,004,862...120,009,566

G

inositol polyphosphate-4-phosphatase type II B

CTD Direct Evidence: marker/mechanism

NCBI chr19:42,824,710...43,575,039
Ensembl chr19:25,925,358...26,280,634

G

ISL LIM homeobox 1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:49,813,618...49,823,442
Ensembl chr 2:48,080,522...48,095,584

G

Janus kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:236,408,905...236,468,769
Ensembl chr 1:226,995,334...227,054,189

G

junction plakoglobin

disease_progression
severity

DNA, protein:mutations, increased expression:urinary bladder
protein:altered localization:tumor:loss of membrane expression associated with higher grade (p<0.05), higher stage (p<0.05), and poor survival (p<0.05)

PMID:9783980 PMID:11585741 PMID:17363521

RGD:2291880, RGD:2301748, RGD:2289818

NCBI chr10:85,800,812...85,827,881
Ensembl chr10:85,300,440...85,327,057

G

potassium inwardly-rectifying channel, subfamily J, member 12

CTD Direct Evidence: marker/mechanism

NCBI chr10:45,696,621...45,745,528
Ensembl chr10:45,696,849...45,745,492

G

lysine demethylase 4A

mRNA:increased expression:urinary bladder (human)

RGD

NCBI chr 5:131,672,754...131,719,534
Ensembl chr 5:131,672,754...131,719,501

G

lysine demethylase 4B

mRNA, protein:increased expression:urinary bladder (human)

RGD

NCBI chr 9:1,245,885...1,324,384
Ensembl chr 9:1,158,752...1,236,543

G

lysine demethylase 5B

mRNA:increased expression:urinary bladder (human)

RGD

NCBI chr13:48,554,367...48,625,721
Ensembl chr13:46,002,542...46,073,872

G

lysine demethylase 6A

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Malignant tumor of urinary bladder

PMID:21822268 PMID:23076834 PMID:23913813 PMID:25741868 PMID:27777708 More...

NCBI chr X:4,337,466...4,477,100
Ensembl chr X:4,337,750...4,477,062

G

kinase insert domain receptor

severity

RGD

PMID:12940780 PMID:12215294

RGD:2291949, RGD:2301758

NCBI chr14:32,572,031...32,615,204
Ensembl chr14:32,217,871...32,261,018

G

KiSS-1 metastasis-suppressor

RGD

NCBI chr13:47,327,159...47,332,759
Ensembl chr13:44,774,823...44,780,612

G

KIT proto-oncogene receptor tyrosine kinase

urinary bladder small cell carcinoma

RGD

NCBI chr14:32,901,615...32,978,895
Ensembl chr14:32,548,877...32,624,652

G

KLF transcription factor 5

CTD Direct Evidence: marker/mechanism

NCBI chr15:82,472,081...82,487,267
Ensembl chr15:76,064,258...76,079,445

G

lysine methyltransferase 2A

CTD Direct Evidence: marker/mechanism

NCBI chr 8:54,013,547...54,089,219
Ensembl chr 8:45,118,814...45,193,181

G

lysine methyltransferase 2C

CTD Direct Evidence: marker/mechanism

NCBI chr 4:10,353,698...10,755,965
Ensembl chr 4:9,609,627...9,833,539

G

lysine methyltransferase 2D

CTD Direct Evidence: marker/mechanism

NCBI chr 7:131,859,696...131,901,032
Ensembl chr 7:129,962,887...130,020,325

G

KRAS proto-oncogene, GTPase

transitional cell bladder carcinoma, OMIM:109800
ClinVar Annotator: match by term: Bladder cancer | ClinVar Annotator: match by term: Bladder cancer, transitional cell, somatic | ClinVar Annotator: match by term: Malignant tumor of urinary bladder | ClinVar Annotator: match by term: Urinary bladder cancer
CTD Direct Evidence: marker/mechanism

ClinVar
CTD
OMIM
RGD

PMID:1553789 PMID:6695174 PMID:7773929 PMID:8439212 PMID:12110640 More...

NCBI chr 4:179,916,255...179,949,613

G

keratin 16

CTD Direct Evidence: marker/mechanism

NCBI chr10:85,669,276...85,672,211
Ensembl chr10:85,066,802...85,171,799

G

keratin 5

RGD

NCBI chr 7:134,724,840...134,730,569
Ensembl chr 7:132,846,136...132,851,850

G

laminin subunit alpha 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:19,492,126...20,140,056
Ensembl chr 1:17,672,536...18,320,530

G

DNA ligase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:83,243,043...83,281,707
Ensembl chr 1:74,165,842...74,204,413

G

lysyl oxidase-like 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:67,587,636...67,612,224
Ensembl chr 8:58,692,593...58,716,356

G

lysyl oxidase-like 4

CTD Direct Evidence: marker/mechanism

NCBI chr 1:241,396,183...241,416,385
Ensembl chr 1:241,397,983...241,416,322

G

leucine rich repeat containing 56

ClinVar Annotator: match by term: Bladder cancer | ClinVar Annotator: match by term: Urinary bladder cancer
ClinVar Annotator: match by term: Bladder cancer | ClinVar Annotator: match by term: Malignant tumor of urinary bladder | ClinVar Annotator: match by term: Urinary bladder cancer

PMID:2999610 PMID:3537694 PMID:6092966 PMID:6330729 PMID:7177195 More...

NCBI chr 1:205,729,402...205,744,754
Ensembl chr 1:196,299,846...196,315,172

G

MAGE family member A9

CTD Direct Evidence: marker/mechanism

NCBI chr X:142,619,282...142,624,654
Ensembl chr X:142,619,395...142,624,653

G

mitogen activated protein kinase kinase 4

RGD

NCBI chr10:50,842,348...50,947,063
Ensembl chr10:50,344,915...50,447,993

G

mitogen activated protein kinase kinase 7

mRNA:splice variant:exon 2: (human)

RGD

NCBI chr12:7,389,032...7,398,377
Ensembl chr12:2,591,219...2,604,222

G

mitogen-activated protein kinase 15

CTD Direct Evidence: marker/mechanism

NCBI chr 7:109,575,619...109,595,339
Ensembl chr 7:107,694,964...107,714,645

G

MDM2 proto-oncogene

severity

mRNA:increased expression:bladder

RGD

NCBI chr 7:55,176,558...55,201,757
Ensembl chr 7:53,290,664...53,314,915

G

O-6-methylguanine-DNA methyltransferase

susceptibility

DNA:polymorphisms:cds:p.L53L, p.L84F (human)

RGD

NCBI chr 1:201,140,832...201,367,481
Ensembl chr 1:191,710,930...191,937,756

G

microRNA 100

CTD Direct Evidence: marker/mechanism

NCBI chr 8:50,798,295...50,798,374
Ensembl chr 8:41,901,225...41,901,304

G

microRNA 132

CTD Direct Evidence: marker/mechanism

NCBI chr10:60,023,696...60,023,796
Ensembl chr10:60,023,696...60,023,796

G

microRNA 145

CTD Direct Evidence: marker/mechanism

NCBI chr18:57,369,983...57,370,070
Ensembl chr18:55,099,640...55,099,727

G

microRNA 152

severity

miRNA:decreased expression:urinary bladder

RGD

NCBI chr10:81,832,936...81,833,020
Ensembl chr10:81,832,936...81,833,020

G

microRNA 186

CTD Direct Evidence: marker/mechanism

NCBI chr 2:249,241,650...249,241,735
Ensembl chr 2:246,582,806...246,582,891

G

microRNA 193b

CTD Direct Evidence: marker/mechanism

NCBI chr10:1,317,742...1,317,824
Ensembl chr10:1,317,742...1,317,824

G

microRNA 221

CTD Direct Evidence: marker/mechanism

NCBI chr X:6,023,182...6,023,290
Ensembl chr X:3,429,465...3,429,573

G

microRNA 27a

CTD Direct Evidence: marker/mechanism

NCBI chr19:40,859,603...40,859,689
Ensembl chr19:23,954,831...23,954,917

G

microRNA 34b

CTD Direct Evidence: marker/mechanism

NCBI chr 8:60,306,609...60,306,692
Ensembl chr 8:51,410,244...51,410,327

G

microRNA 494

ameliorates

RGD

NCBI chr 6:134,550,115...134,550,197
Ensembl chr 6:128,728,709...128,728,793

G

microRNA 532

CTD Direct Evidence: marker/mechanism

NCBI chr X:17,919,185...17,919,263
Ensembl chr X:15,247,315...15,247,393

G

microRNA 93

CTD Direct Evidence: marker/mechanism

NCBI chr12:22,156,844...22,156,930
Ensembl chr12:17,043,135...17,043,221

G

microRNA 99a

CTD Direct Evidence: marker/mechanism

NCBI chr11:29,687,392...29,687,472
Ensembl chr11:16,200,443...16,200,523

G

marker of proliferation Ki-67

protein:increased expression:urinary bladder

RGD

NCBI chr 1:199,926,150...199,952,847
Ensembl chr 1:190,496,319...190,522,762

G

mutL homolog 1

disease_progression

RGD

NCBI chr 8:120,074,871...120,112,109
Ensembl chr 8:111,196,468...111,233,617

G

matrix metallopeptidase 1

severity

DNA:insertion:promoter:g.-1607insG (human)
protein:increased expression:urine (human)

RGD

PMID:17986285 PMID:11705862

RGD:7207077, RGD:7207140

NCBI chr 8:12,943,453...12,963,966
Ensembl chr 8:4,658,588...4,679,097

G

matrix metallopeptidase 13

urinary bladder transitional-cell carcinomas

RGD

NCBI chr 8:12,782,829...12,793,108
Ensembl chr 8:4,497,960...4,508,239

G

matrix metallopeptidase 2

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:30548095 PMID:17466450

NCBI chr19:30,327,643...30,355,856
Ensembl chr19:14,154,657...14,182,870

G

matrix metallopeptidase 9

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:30548095 PMID:17466450

NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:153,683,858...153,692,120

G

myeloperoxidase

CTD Direct Evidence: marker/mechanism

NCBI chr10:73,092,124...73,102,057
Ensembl chr10:72,594,661...72,604,819

G

MRE11 homolog, double strand break repair nuclease

susceptibility

DNA:snp:3' utr:c.2501A>G rs2155209 (human)
ClinVar Annotator: match by term: Malignant tumor of urinary bladder

PMID:28492532 PMID:18638378

NCBI chr 8:19,900,211...19,961,906
Ensembl chr 8:11,632,354...11,678,279

G

mutS homolog 2

disease_progression

DNA:mutation
DNA:mutations: :multiple
associated with Lynch syndrome
protein:decreased expression:urinary bladder

RGD

PMID:18389386 PMID:26385421 PMID:22883484 PMID:18254781

RGD:2293502, RGD:126790580, RGD:126790557, RGD:2293503

NCBI chr 6:12,567,368...12,626,534
Ensembl chr 6:6,813,795...6,872,938

G

mutS homolog 6

disease_progression

protein:decreased expression:urinary bladder

NCBI chr 6:12,316,190...12,333,505
Ensembl chr 6:6,562,632...6,579,956

G

mitochondrially encoded ATP synthase membrane subunit 8

DNA:deletion: :(human)

RGD

NCBI chr MT:7,758...7,961
Ensembl chr MT:7,758...7,961

G

mitochondrially encoded cytochrome b

DNA:deletion:cds

RGD

NCBI chr MT:14,136...15,278
Ensembl chr MT:14,136...15,278

G

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2

DNA:deletion: :(human)

RGD

NCBI chr MT:3,904...4,942
Ensembl chr MT:3,904...4,942

G

metallothionein 1

CTD Direct Evidence: marker/mechanism

NCBI chr19:10,831,959...10,832,975
Ensembl chr19:10,826,032...10,827,049
Ensembl chr17:10,826,032...10,827,049
Ensembl chr X:10,826,032...10,827,049

G

metallothionein 2

CTD Direct Evidence: marker/mechanism

PMID:7729958 PMID:16565513

NCBI chr19:10,837,934...10,838,708
Ensembl chr19:10,832,002...10,832,784

G

metallothionein 3

CTD Direct Evidence: marker/mechanism

NCBI chr19:10,854,676...10,856,080
Ensembl chr19:10,848,755...10,850,158

G

methylenetetrahydrofolate reductase

susceptibility
no_association

DNA:transition:cds:g.677C>T (human)
CTD Direct Evidence: marker/mechanism
protein:missense mutation:cds:p.A222V (human)
DNA:transversion:cds:g.1298A>C (human)
DNA:transition, transversion, haplotype:cds:g.677C>T, g.1298A>C (human)

CTD
RGD

PMID:22747749 PMID:22126575 PMID:17311259 PMID:19837268 PMID:20146887

RGD:6893457, RGD:6893597, RGD:6893521, RGD:6893516

NCBI chr 5:163,748,346...163,768,141
Ensembl chr 5:158,465,296...158,483,797

G

mechanistic target of rapamycin kinase

treatment

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:36115647 PMID:19261747

NCBI chr 5:164,167,985...164,277,438
Ensembl chr 5:158,884,804...158,994,311

G

5-methyltetrahydrofolate-homocysteine methyltransferase

susceptibility

DNA:polymorphism: :2756A>G(human)

RGD

NCBI chr17:62,911,705...62,996,544
Ensembl chr17:58,220,071...58,304,822

G

mucin 1, cell surface associated

protein:increased expression:serum:

RGD

NCBI chr 2:176,933,312...176,938,497
Ensembl chr 2:174,635,995...174,640,733

G

mucin 5B, oligomeric mucus/gel-forming

DNA:repeats

RGD

NCBI chr 1:206,346,400...206,378,367
Ensembl chr 1:196,916,825...196,949,250

G

MYC proto-oncogene, bHLH transcription factor

susceptibility
disease_progression

DNA:snp, haplotype:enhancer:g.-30772G>T rs9642880 (human)
CTD Direct Evidence: marker/mechanism
protein:decreased expression:urinary bladder urothelium (human)

CTD
RGD

PMID:2228319 PMID:23284801 PMID:20939013 PMID:22028816

RGD:7207401, RGD:7207427, RGD:7207418

NCBI chr 7:95,483,105...95,488,031
Ensembl chr 7:93,593,705...93,598,630

G

N-acetyltransferase 1

CTD Direct Evidence: marker/mechanism

NCBI chr16:26,984,882...27,005,194
Ensembl chr16:22,208,194...22,238,520

G

N-acetyltransferase 2

susceptibility

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:10022756 PMID:15717312 PMID:18505952 PMID:20972438 PMID:24221535 More...

NCBI chr16:26,974,874...27,005,191
Ensembl chr16:22,208,194...22,238,520

G

neurocan

CTD Direct Evidence: marker/mechanism

NCBI chr16:19,335,907...19,362,371
Ensembl chr16:19,301,969...19,328,436

G

nuclear receptor co-repressor 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:47,498,852...47,641,612
Ensembl chr10:46,999,536...47,141,032

G

nicastrin

OMIM:109800

NCBI chr13:84,530,442...84,546,454
Ensembl chr13:84,530,440...84,546,454

G

nectin cell adhesion molecule 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:88,500,086...88,535,474
Ensembl chr 1:79,372,119...79,407,360

G

NEDD4 E3 ubiquitin protein ligase

RGD

NCBI chr 8:82,264,751...82,349,642
Ensembl chr 8:73,383,695...73,468,951

G

neurofibromin 1

ClinVar Annotator: match by term: Bladder cancer | ClinVar Annotator: match by term: Malignant tumor of urinary bladder

PMID:8069310 PMID:10090487 PMID:10712197 PMID:10862084 PMID:10980545 More...

NCBI chr10:64,803,986...65,037,086
Ensembl chr10:64,306,301...64,536,658

G

NME/NM23 nucleoside diphosphate kinase 1

mRNA:increased expression:urinary bladder

RGD

NCBI chr10:79,403,939...79,426,620
Ensembl chr10:78,906,083...78,916,408

G

NME/NM23 nucleoside diphosphate kinase 2

mRNA:increased expression:urinary bladder

RGD

NCBI chr10:79,394,999...79,400,418
Ensembl chr10:78,897,770...78,903,538
Ensembl chr20:78,897,770...78,903,538

G

nitric oxide synthase 3

protein:increased expression:urinary bladder

RGD

NCBI chr 4:11,686,088...11,706,604
Ensembl chr 4:10,793,834...10,814,166

G

NAD(P)H quinone dehydrogenase 1

treatment

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:8631603 PMID:21213404

NCBI chr19:52,205,374...52,220,267
Ensembl chr19:35,295,573...35,310,557

G

neurensin 1

CTD Direct Evidence: marker/mechanism

NCBI chr17:39,806,238...39,824,550
Ensembl chr17:39,806,238...39,823,813

G

olfactory receptor family 8 subfamily S member 5

CTD Direct Evidence: marker/mechanism

NCBI chr 7:129,490,113...129,491,030
Ensembl chr 7:129,486,292...129,496,949

G

poly(A) binding protein, cytoplasmic 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:69,662,513...69,674,806
Ensembl chr 7:67,777,381...67,789,744

G

prohibitin 1

mRNA:increased expression:urinary bladder

RGD

NCBI chr10:81,102,043...81,114,815
Ensembl chr10:80,605,251...80,618,042

G

phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha

ClinVar Annotator: match by term: Malignant tumor of urinary bladder

NCBI chr 2:117,103,643...117,177,411
Ensembl chr 2:115,174,984...115,249,032

G

phosphatidylinositol-4-phosphate 5-kinase, type 1, alpha

CTD Direct Evidence: marker/mechanism

NCBI chr 2:185,317,319...185,361,859
Ensembl chr 2:182,628,300...182,671,598

G

plasminogen activator, urokinase

treatment

protein:increased expression:urinary bladder (human)
DNA:snp:3' utr:g.4065C>T (human)

RGD

PMID:19010488 PMID:18336603 PMID:16825821

RGD:4144867, RGD:7241213, RGD:7241144

NCBI chr15:3,505,485...3,511,987
Ensembl chr15:3,456,232...3,462,775

G

polo-like kinase 1

severity

RGD

PMID:16837776 PMID:15761500

RGD:2299938, RGD:2299940

NCBI chr 1:186,147,658...186,157,637
Ensembl chr 1:176,716,420...176,726,400

G

polyamine-modulated factor 1

disease_progression

RGD

NCBI chr 2:176,145,896...176,166,022
Ensembl chr 2:173,848,074...173,868,270

G

PMS1 homolog 2, mismatch repair system component

susceptibility

DNA:SNP: :rs6463524 (human)

RGD

NCBI chr12:15,790,478...15,814,790
Ensembl chr12:10,676,764...10,701,066

G

DNA polymerase beta

CTD Direct Evidence: marker/mechanism

NCBI chr16:76,081,903...76,105,174
Ensembl chr16:69,379,400...69,404,812

G

paraoxonase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:34,261,312...34,292,327
Ensembl chr 4:33,294,722...33,321,360

G

cytochrome p450 oxidoreductase

CTD Direct Evidence: marker/mechanism

NCBI chr12:26,587,674...26,655,612
Ensembl chr12:20,951,058...20,999,245

G

peroxisome proliferator-activated receptor gamma

protein:decreased expression:urinary bladder

RGD

NCBI chr 4:150,095,743...150,221,104
Ensembl chr 4:148,423,194...148,548,468

G

protein phosphatase 3 catalytic subunit gamma

CTD Direct Evidence: marker/mechanism

NCBI chr15:51,699,586...51,771,763
Ensembl chr15:45,290,373...45,361,832

G

PR/SET domain 2

CTD Direct Evidence: marker/mechanism

NCBI chr 5:160,704,396...160,815,184
Ensembl chr 5:155,422,134...155,531,825

G

protein kinase C, alpha

severity
disease_progression

protein:increased expression:urinary bladder
protein:altered localization:urinary bladder

RGD

PMID:16008942 PMID:15922420

RGD:2292455, RGD:2298669

NCBI chr10:93,388,991...93,787,617
Ensembl chr10:92,894,012...93,288,012

G

serine protease 3

CTD Direct Evidence: marker/mechanism

NCBI chr 4:70,203,088...70,206,562
Ensembl chr 4:70,203,088...70,206,562

G

prostate stem cell antigen

CTD Direct Evidence: marker/mechanism

PMID:19648920 PMID:20083643

NCBI chr 7:106,598,203...106,603,114
Ensembl chr 7:106,595,284...106,609,746

G

proteasome 20S subunit beta 2

CTD Direct Evidence: marker/mechanism

NCBI chr 5:144,255,058...144,287,200
Ensembl chr 5:138,970,533...139,021,137

G

phosphatase and tensin homolog

disease_progression

DNA:mutations: :multiple
ClinVar Annotator: match by term: Malignant tumor of urinary bladder
OMIM:109800
protein:decreased expression:urinary bladder

ClinVar
MouseDO
RGD

PMID:9140396 PMID:9256433 PMID:9735393 PMID:9811831 PMID:10051603 More...

RGD:2292515, RGD:2291891

NCBI chr 1:240,043,707...240,110,330
Ensembl chr 1:230,630,338...230,696,838

G

prostaglandin-endoperoxide synthase 2

disease_progression
susceptibility

CTD Direct Evidence: marker/mechanism
DNA:SNP:3' utr:837T>C (human)

CTD
RGD

PMID:10582676 PMID:10873095 PMID:12442003 PMID:12664575 PMID:16098373 More...

RGD:2300200, RGD:5508302, RGD:2300127

NCBI chr13:64,714,063...64,722,320
Ensembl chr13:62,163,932...62,172,188

G

RAB27A, member RAS oncogene family

CTD Direct Evidence: marker/mechanism

NCBI chr 8:82,663,373...82,717,267
Ensembl chr 8:73,782,694...73,847,829

G

RAB27B, member RAS oncogene family

CTD Direct Evidence: marker/mechanism

NCBI chr18:63,597,554...63,794,124
Ensembl chr18:63,600,937...63,757,180

G

ralA binding protein 1

mRNA, protein:increased expression:urinary bladder

RGD

NCBI chr 9:112,903,289...112,940,093
Ensembl chr 9:105,456,425...105,492,707

G

Ral GEF with PH domain and SH3 binding motif 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:36,831,029...37,067,659
Ensembl chr 3:16,433,742...16,669,972

G

Ras association domain family member 1

DNA:hypermethylation
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:15987713 PMID:18702824 PMID:12222680

RGD:2299860, RGD:2291977

NCBI chr 8:117,103,665...117,114,805
Ensembl chr 8:108,225,023...108,236,164

G

RB transcriptional corepressor 1

disease_progression

ClinVar Annotator: match by term: Bladder cancer | ClinVar Annotator: match by term: Malignant tumor of urinary bladder
CTD Direct Evidence: marker/mechanism

ClinVar
CTD
OMIM
RGD

PMID:1352883 PMID:2181449 PMID:2601691 PMID:7704558 PMID:8651278 More...

NCBI chr15:54,780,858...54,911,989
Ensembl chr15:48,371,296...48,502,302

G

RELA proto-oncogene, NF-kB subunit

disease_progression

RGD

PMID:18188593 PMID:18089718

RGD:2298753, RGD:2293094

NCBI chr 1:212,354,336...212,364,815
Ensembl chr 1:202,924,945...202,935,484

G

resistin

protein:increased expression:urine

RGD

NCBI chr12:6,508,653...6,511,115
Ensembl chr12:1,710,881...1,712,620

G

ras homolog family member A

disease_progression

protein:increased expression:urinary bladder
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:19896475 PMID:12855641

NCBI chr 8:117,870,548...117,904,303
Ensembl chr 8:108,991,954...109,025,746

G

ribonucleotide reductase regulatory subunit M2

mRNA:increased expression:bladder (rat)

RGD

NCBI chr 6:47,044,755...47,075,370
Ensembl chr 6:41,340,557...41,346,773

G

RUNX family transcription factor 3

DNA:hypermethylation:promoter

RGD

NCBI chr 5:152,644,270...152,702,835
Ensembl chr 5:147,360,994...147,419,156

G

S100 calcium binding protein A8

mRNA:increased expression:urinary bladder

RGD

NCBI chr 2:178,464,095...178,465,223
Ensembl chr 2:176,167,124...176,167,643

G

S100 calcium binding protein A9

mRNA:increased expression:urinary bladder

RGD

NCBI chr 2:178,487,941...178,490,622
Ensembl chr 2:176,190,361...176,193,230

G

S100 calcium binding protein B

mRNA:increased expression:urinary bladder urothelium

RGD

NCBI chr20:12,372,345...12,381,159
Ensembl chr20:12,372,881...12,394,743

G

serpin family E member 1

RGD

NCBI chr12:25,237,977...25,248,356
Ensembl chr12:19,601,272...19,611,657

G

stratifin

disease_progression

protein:increased expression:urothelium (human)

RGD

NCBI chr 5:151,110,582...151,111,854
Ensembl chr 5:145,826,201...145,831,314

G

solute carrier family 11 member 1

disease_progression

DNA:repeat, polymorphism:promoter, cds:p.D543N (human)

RGD

NCBI chr 9:83,406,327...83,417,252
Ensembl chr 9:75,957,316...75,968,101

G

solute carrier family 12 member 7

CTD Direct Evidence: marker/mechanism

NCBI chr 1:31,301,243...31,382,825
Ensembl chr 1:29,472,692...29,554,302

G

solute carrier family 19 member 1

CTD Direct Evidence: marker/mechanism

NCBI chr20:11,583,928...11,601,959
Ensembl chr20:11,584,411...11,601,972

G

SMAD family member 2

RGD

NCBI chr18:72,124,792...72,193,345
Ensembl chr18:69,850,377...69,912,323

G

SMAD family member 4

protein:decreased expression:urinary bladder

RGD

NCBI chr18:69,518,988...69,549,684
Ensembl chr18:67,243,742...67,274,438

G

structural maintenance of chromosomes 1A

CTD Direct Evidence: marker/mechanism

NCBI chr X:24,582,732...24,627,462
Ensembl chr X:21,103,282...21,148,056

G

structural maintenance of chromosomes 1B

CTD Direct Evidence: marker/mechanism

NCBI chr 7:116,180,987...116,242,778
Ensembl chr 7:116,180,987...116,242,744

G

suppressor of cytokine signaling 1

disease_progression

DNA:hypermethylation:promoter

RGD

PMID:16242928 PMID:17522834

RGD:2298906, RGD:2298903

NCBI chr10:5,389,574...5,391,265
Ensembl chr10:4,882,560...4,884,383

G

superoxide dismutase 1

CTD Direct Evidence: marker/mechanism

NCBI chr11:42,942,742...42,948,399
Ensembl chr11:29,456,558...29,462,249

G

superoxide dismutase 2

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:14729580 PMID:18930813 PMID:17974967

NCBI chr 1:50,043,323...50,050,168
Ensembl chr 1:47,636,528...47,645,189

G

SRY-box transcription factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 2:119,465,131...119,467,542
Ensembl chr 2:117,536,929...117,539,338

G

SRY-box transcription factor 4

RGD

NCBI chr17:35,876,298...35,881,004
Ensembl chr17:35,667,537...35,673,665

G

secreted protein acidic and cysteine rich

disease_progression

RGD

PMID:11696817 PMID:17149610

RGD:2300024, RGD:2300021

NCBI chr10:40,017,065...40,038,816
Ensembl chr10:39,516,406...39,538,396

G

serine peptidase inhibitor, Kazal type 1

disease_progression

mRNA, protein:decreased expression:urinary bladder

RGD

NCBI chr18:36,121,626...36,133,596
Ensembl chr18:35,824,550...35,882,642

G

secreted phosphoprotein 1

RGD

NCBI chr14:5,613,569...5,620,695
Ensembl chr14:5,308,885...5,315,162

G

SRC proto-oncogene, non-receptor tyrosine kinase

CTD Direct Evidence: marker/mechanism

PMID:11723127 PMID:17093206

NCBI chr 3:166,511,616...166,559,463
Ensembl chr 3:146,091,841...146,139,476

G

serine and arginine rich splicing factor 9

mRNA:increased expression:urinary bladder epithelium (human)

RGD

NCBI chr12:41,278,225...41,284,502
Ensembl chr12:41,275,687...41,284,499

G

STAG2 cohesin complex component

CTD Direct Evidence: marker/mechanism

PMID:24121789 PMID:24121791 PMID:24121792

NCBI chr X:125,839,660...125,971,209
Ensembl chr X:120,974,857...121,105,677

G

signal transducer and activator of transcription 3

CTD Direct Evidence: marker/mechanism

NCBI chr10:86,311,528...86,363,513
Ensembl chr10:85,811,218...85,863,057

G

sulfotransferase family 1A member 1

RGD

NCBI chr 1:190,702,592...190,706,112
Ensembl chr 1:181,272,023...181,275,562

G

transforming, acidic coiled-coil containing protein 3

CTD Direct Evidence: marker/mechanism

NCBI chr14:81,275,755...81,289,894
Ensembl chr14:77,051,215...77,065,219

G

telomerase RNA component

disease_progression

RNA:increased expression:urinary bladder
RNA:increased expression:urine

RGD

PMID:16104909 PMID:17644139

RGD:2291967, RGD:2291986

NCBI chr 2:112,815,654...112,816,041

G

telomerase reverse transcriptase

protein:increased expression:urine
ClinVar Annotator: match by term: Malignant tumor of urinary bladder
CTD Direct Evidence: marker/mechanism

ClinVar
CTD
RGD

PMID:19151717 PMID:20871597 PMID:22037553 PMID:23066086 PMID:23348503 More...

NCBI chr 1:31,465,766...31,488,650
Ensembl chr 1:29,637,506...29,659,561

G

trefoil factor 1

protein:increased expression:urinary bladder

RGD

NCBI chr20:9,237,095...9,240,956
Ensembl chr20:9,235,736...9,239,597

G

transferrin receptor

CTD Direct Evidence: marker/mechanism

NCBI chr11:81,668,478...81,690,318
Ensembl chr11:68,163,413...68,185,257

G

transforming growth factor, beta receptor 1

RGD

NCBI chr 5:66,449,348...66,506,371
Ensembl chr 5:61,653,233...61,710,777

G

thrombospondin 1

severity

protein:decreased expression:bladder

RGD

NCBI chr 3:125,510,250...125,525,402
Ensembl chr 3:105,056,292...105,071,440

G

TIMP metallopeptidase inhibitor 2

disease_progression

protein:decreased expression:serum
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:30548095 PMID:17374529 PMID:17466450

RGD:2298521, RGD:2290395

NCBI chr10:104,041,604...104,089,214
Ensembl chr10:103,531,505...103,590,611

G

TIMP metallopeptidase inhibitor 3

DNA:hypermethylation:promoter

RGD

NCBI chr 7:19,408,539...19,459,558
Ensembl chr 7:17,521,919...17,571,839

G

toll-like receptor 2

DNA:deletion:promoter:−196_−174del (human)

RGD

NCBI chr 2:171,499,189...171,504,831
Ensembl chr 2:169,197,419...169,206,630

G

toll-like receptor 4

treatment

RGD

NCBI chr 5:85,161,247...85,174,882
Ensembl chr 5:80,145,826...80,159,628

G

transmembrane protein with EGF-like and two follistatin-like domains 2

DNA:hypermethylation:promoter

RGD

NCBI chr 9:57,937,873...58,225,372
Ensembl chr 9:50,436,079...50,733,475

G

tumor necrosis factor

CTD Direct Evidence: therapeutic

NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629

G

TNF receptor superfamily member 10b

DNA:missense mutation:cds:p.E228A (c.683A>C) (human)

RGD

NCBI chr15:51,249,883...51,278,091
Ensembl chr15:44,840,386...44,867,467

G

DNA topoisomerase II alpha

disease_progression

RGD

NCBI chr10:84,441,954...84,473,093
Ensembl chr10:83,945,735...83,976,874

G

tumor protein p53

disease_progression

protein:increased expression:urinary bladder
ClinVar Annotator: match by term: Bladder cancer | ClinVar Annotator: match by term: Malignant tumor of urinary bladder
CTD Direct Evidence: marker/mechanism

ClinVar
CTD
RGD

PMID:224644 PMID:1565143 PMID:1591732 PMID:1631151 PMID:1683921 More...

NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524

G

tumor protein p63

disease_progression

RGD

NCBI chr11:88,343,647...88,554,543
Ensembl chr11:74,838,859...75,049,398

G

tumor protein p73

disease_progression

mRNA:increased expression:urinary bladder

RGD

NCBI chr 5:169,903,801...169,988,075
Ensembl chr 5:164,621,377...164,681,128

G

transient receptor potential cation channel, subfamily V, member 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:58,349,936...58,375,021
Ensembl chr10:57,851,428...57,876,513

G

TSC complex subunit 1

ClinVar Annotator: match by term: Bladder cancer | ClinVar Annotator: match by term: Malignant tumor of urinary bladder

PMID:9242607 PMID:9328481 PMID:9803264 PMID:9863590 PMID:9924605 More...

NCBI chr 3:32,367,434...32,416,565
Ensembl chr 3:11,979,729...12,015,674

G

thymidine phosphorylase

disease_progression

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:11103787 PMID:15841086 PMID:16937303

NCBI chr 7:122,318,396...122,323,716
Ensembl chr 7:120,438,770...120,443,874
Ensembl chr 7:120,438,770...120,443,874

G

thymidylate synthetase

RGD

NCBI chr 9:120,760,057...120,776,149
Ensembl chr 9:113,313,452...113,329,536

G

ubiquitin-conjugating enzyme E2I

radiation-induced dysplasia and carcinoma in situ; protein:increased expression:bladder urothelium:increased in Chernobyl victims vs controls from uncontaminated areas of the Ukraine (p<0.001) (human)

RGD

NCBI chr10:14,782,245...14,802,911
Ensembl chr10:69,701,618...69,702,443
Ensembl chr10:69,701,618...69,702,443

G

UDP glucuronosyltransferase family 2 member B7

CTD Direct Evidence: marker/mechanism

NCBI chr14:21,251,535...21,274,451
Ensembl chr14:20,896,682...20,919,604

G

ubiquitin specific peptidase 7

CTD Direct Evidence: marker/mechanism

NCBI chr10:7,335,508...7,432,018
Ensembl chr10:6,828,795...6,925,355

G

vascular endothelial growth factor A

mRNA:increased expression:bladder

RGD

NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:14,955,300...14,970,641

G

vascular endothelial growth factor C

disease_progression

RGD

NCBI chr16:44,445,293...44,560,887
Ensembl chr16:37,712,262...37,827,848

G

vascular endothelial growth factor D

disease_progression

RGD

NCBI chr X:33,704,582...33,740,305
Ensembl chr X:30,074,163...30,108,295

G

von Hippel-Lindau tumor suppressor

mRNA:decreased expression:urinary bladder

RGD

NCBI chr 4:148,328,099...148,334,992
Ensembl chr 4:146,772,468...146,779,377

G

von Willebrand factor A domain containing 3A

CTD Direct Evidence: marker/mechanism

NCBI chr 1:175,293,782...175,355,588
Ensembl chr 1:175,293,873...175,355,602

G

Wnt inhibitory factor 1

disease_progression

protein:decreased expression:urinary bladder
DNA:hypermethylation:promoter

RGD

PMID:14517837 PMID:18325051

RGD:727214, RGD:2291868

NCBI chr 7:58,433,326...58,503,853
Ensembl chr 7:56,548,053...56,618,360

G

Wnt family member 7B

superficial, NOT invasive

RGD

NCBI chr 7:118,514,684...118,559,316
Ensembl chr 7:116,634,814...116,679,581

G

xanthine dehydrogenase

protein:decreased activity:urinary bladder

RGD

NCBI chr 6:27,282,319...27,344,022
Ensembl chr 6:21,530,113...21,592,268

G

X-ray repair cross complementing 1

susceptibility
no_association

DNA:polymorphism: :p.R399Q
DNA:SNP: p.R399Q (human)
DNA:polymorphisms: :multiple

RGD

PMID:18765423 PMID:18272472 PMID:17425776

RGD:2302568, RGD:150530493, RGD:2302572

NCBI chr 1:89,268,721...89,296,619
Ensembl chr 1:80,141,207...80,168,701

G

YjeF N-terminal domain containing 3

CTD Direct Evidence: marker/mechanism

NCBI chr16:19,533,742...19,539,759
Ensembl chr16:19,533,788...19,539,728

G

zinc finger protein 609

CTD Direct Evidence: marker/mechanism

NCBI chr 8:66,214,553...66,349,319
Ensembl chr 8:66,214,555...66,317,977

Urinary Bladder Neoplasm

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

AT-rich interaction domain 1A

ClinVar Annotator: match by term: Urinary Bladder Neoplasms

PMID:25741868 PMID:32888375 PMID:34942405

NCBI chr 5:151,192,014...151,269,291
Ensembl chr 5:145,908,181...145,985,564

G

ATM serine/threonine kinase

ClinVar Annotator: match by term: Urinary Bladder Neoplasms

PMID:17124347 PMID:21665257 PMID:23322442 PMID:23454770 PMID:23807571 More...

NCBI chr 8:62,724,939...62,829,040
Ensembl chr 8:53,831,093...53,932,437

G

BRCA1, DNA repair associated

ClinVar Annotator: match by term: Urinary Bladder Neoplasms

PMID:7894493 PMID:9150154 PMID:10227398 PMID:11802209 PMID:12402341 More...

NCBI chr10:86,917,693...86,978,012
Ensembl chr10:86,418,000...86,477,304

G

BRCA2, DNA repair associated

ClinVar Annotator: match by term: Urinary Bladder Neoplasms

PMID:17924331 PMID:18607349 PMID:19043619 PMID:19200354 PMID:19563646 More...

NCBI chr12:4,895,092...4,939,340
Ensembl chr12:59,819...100,567

G

similar to human chromosome 11 open reading frame 65

ClinVar Annotator: match by term: Urinary Bladder Neoplasms

PMID:28492532 PMID:31050087

NCBI chr 8:62,692,123...62,720,951
Ensembl chr 8:53,796,366...53,824,748

G

fibroblast growth factor receptor 3

ClinVar Annotator: match by term: Urinary Bladder Neoplasms

PMID:1908846 PMID:7647778 PMID:7649548 PMID:7670477 PMID:7702086 More...

NCBI chr14:81,211,800...81,227,215
Ensembl chr14:76,987,993...77,003,341

G

HRas proto-oncogene, GTPase

ClinVar Annotator: match by term: Urinary Bladder Neoplasms

PMID:2999610 PMID:3537694 PMID:6092966 PMID:6330729 PMID:7177195 More...

NCBI chr 1:205,712,625...205,729,406
Ensembl chr 1:196,296,263...196,300,615

G

KRAS proto-oncogene, GTPase

ClinVar Annotator: match by term: Urinary Bladder Neoplasms

PMID:7773929 PMID:8439212 PMID:12110640 PMID:12720172 PMID:14982869 More...

NCBI chr 4:179,916,255...179,949,613

G

leucine rich repeat containing 56

ClinVar Annotator: match by term: Urinary Bladder Neoplasms

PMID:2999610 PMID:3537694 PMID:6092966 PMID:6330729 PMID:7177195 More...

NCBI chr 1:205,729,402...205,744,754
Ensembl chr 1:196,299,846...196,315,172

G

neurofibromin 1

ClinVar Annotator: match by term: Urinary Bladder Neoplasms

PMID:10712197 PMID:16835897 PMID:16944272 PMID:23913538 PMID:25074460 More...

NCBI chr10:64,803,986...65,037,086
Ensembl chr10:64,306,301...64,536,658

G

RB transcriptional corepressor 1

ClinVar Annotator: match by term: Urinary Bladder Neoplasms

PMID:25741868 PMID:28492532

NCBI chr15:54,780,858...54,911,989
Ensembl chr15:48,371,296...48,502,302

G

tumor protein p53

ClinVar Annotator: match by term: Urinary Bladder Neoplasms

PMID:1565143 PMID:1591732 PMID:1683921 PMID:1978757 PMID:2046748 More...

NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524

G

TSC complex subunit 1

ClinVar Annotator: match by term: Urinary Bladder Neoplasms

PMID:9242607 PMID:9328481 PMID:9803264 PMID:9863590 PMID:9924605 More...

NCBI chr 3:32,367,434...32,416,565
Ensembl chr 3:11,979,729...12,015,674

urinary system cancer

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

NAD(P)H quinone dehydrogenase 1

Urothelial neoplasms

RGD

NCBI chr19:52,205,374...52,220,267
Ensembl chr19:35,295,573...35,310,557

G

Wnt family member 2

DNA:amplification

RGD

NCBI chr 4:47,294,300...47,340,284
Ensembl chr 4:46,333,998...46,374,402

WAGR syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

elongator acetyltransferase complex subunit 4

ClinVar Annotator: match by term: Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation syndrome

PMID:25741868 PMID:28492532

NCBI chr 3:112,617,020...112,839,963
Ensembl chr 3:92,162,280...92,385,243

G

paired box 6

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: 11p partial monosomy syndrome | ClinVar Annotator: match by term: Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation syndrome

PMID:9727514 PMID:10234503 PMID:12634864 PMID:12868034 PMID:15086958 More...

NCBI chr 3:112,590,034...112,611,771
Ensembl chr 3:92,135,637...92,157,014

G

WT1 transcription factor

ClinVar Annotator: match by term: 11p partial monosomy syndrome | ClinVar Annotator: match by term: CHROMOSOME 11p13 DELETION SYNDROME | ClinVar Annotator: match by term: Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation syndrome
CTD Direct Evidence: marker/mechanism

PMID:1302008 PMID:1327525 PMID:1338906 PMID:1655284 PMID:1658787 More...

NCBI chr 3:112,019,721...112,068,454
Ensembl chr 3:91,567,001...91,613,643

Wilms Tumor 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

H19 imprinted maternally expressed transcript

ClinVar Annotator: match by term: Wilms tumor 2

NCBI chr 1:197,730,698...197,733,374
Ensembl chr 1:197,730,698...197,733,134

G

mitochondrial ribosomal protein L23

ClinVar Annotator: match by term: Wilms tumor 2

NCBI chr 1:197,687,452...197,695,222
Ensembl chr 1:197,687,347...197,695,222

Wilms Tumor 5

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

POU class 6 homeobox 2

susceptibility

ClinVar Annotator: match by term: POU6F2-related condition | ClinVar Annotator: match by term: Wilms tumor 5

PMID:11284034 PMID:15459955 PMID:25741868 PMID:28492532

NCBI chr17:46,472,182...46,886,796
Ensembl chr17:46,472,181...46,921,039

Wilms Tumor 6

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

RE1-silencing transcription factor

susceptibility

ClinVar Annotator: match by term: Wilms tumor 6

PMID:25741868 PMID:26551668 PMID:28492532

NCBI chr14:31,213,415...31,233,451
Ensembl chr14:30,862,553...30,894,354

Term paths to the root

Path 1
Term	Annotations
disease	19142
disease of anatomical entity	18455
Urogenital Diseases	5394
Urogenital Neoplasms	2345
Urologic Neoplasms	728
Kidney Neoplasms +	506
Ureteral Neoplasms +	1
Urethral Neoplasms +	0
Urinary Bladder Neoplasm +	308
transitional cell carcinoma +	124
urinary system benign neoplasm +	7
urinary system cancer +	677

paths to the root