kidney cancer - Ontology Report - Rat Genome Database

Submit Data | Help | Video Tutorials | News | Publications | Download | REST API | Citing RGD | Contact

Advanced Search (OLGA)

RGD DISEASE ONTOLOGY - ANNOTATIONS

{{ watchLinkText }}

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:	kidney cancer	go back to main search page
Accession:	DOID:263	browse the term
Definition:	A urinary system cancer that is located_in the kidney. (DO)
Synonyms:	exact_synonym:	cancer of kidney; cancer of the kidney; kidney cancers; malignant neoplasm of kidney except pelvis; malignant tumour of kidney; renal cancer; renal cancers
	alt_id:	DOID:3676
	xref:	EFO:0003865; ICD10CM:C64; ICD9CM:189.0; MONDO:0002367; NCI:C120456; NCI:C3150; NCI:C7548
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants Sort by:
Rat (490) Mouse (497) Human (9902) Chinchilla (437) Bonobo (460) Dog (463) Squirrel (446) Pig (458) Green Monkey (452) Naked Mole-rat (431) All
Genes (485) Strains (1) Cell Lines (4)

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 chr15:32,208,993...32,254,952
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 chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656

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:70,850,981...70,997,330
Ensembl chr X:70,850,981...70,997,330

G

derlin 3

ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 1

NCBI chr20:12,754,490...12,768,454
Ensembl chr20:12,763,543...12,767,027

G

glypican 3

protein:increased expression:brain (human)

RGD

NCBI chr X:131,868,986...132,236,824
Ensembl chr X:131,868,990...132,236,798

G

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1

susceptibility

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Familial Posterior Fossa Brain Tumor of Infancy | ClinVar Annotator: match by term: Malignant rhabdoid tumor, somatic | ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome | ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 1 | ClinVar Annotator: match by term: Teratoid tumor, atypical
OMIM:609322

CTD
OMIM
ClinVar
MouseDO

PMID:9536098 PMID:9671307 PMID:9892189 PMID:10521299 PMID:10739763 More...

NCBI chr20:12,741,164...12,763,616
Ensembl chr20:12,741,477...12,763,620

G

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1

ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 1

PMID:25741868 PMID:28492532

NCBI chr10:84,159,270...84,180,547
Ensembl chr10:84,159,275...84,179,989

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 chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524

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 chr10:103,072,530...103,081,382
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 chr12:41,638,536...41,672,806
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 chr10:68,735,894...68,789,888
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 9:90,799,682...90,811,246
Ensembl chr 9:90,799,686...90,811,237

G

advanced glycosylation end product-specific receptor

mRNA:increased expression:renal cortex (human)

RGD

NCBI chr20:4,148,150...4,151,361
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 8:53,828,741...53,932,773
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 2:193,424,138...193,435,418
Ensembl chr 2:193,424,047...193,435,418

G

ATP synthase peripheral stalk subunit OSCP

RGD

NCBI chr11:31,165,218...31,171,530
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 chr16:6,446,709...6,455,535
Ensembl chr16:6,446,709...6,455,535

G

BCL2 associated X, apoptosis regulator

mRNA, protein:increased expression:kidney

RGD

NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368

G

baculoviral IAP repeat-containing 3

disease_progression

mRNA:increased expression:kidney (human)

NCBI chr 8:5,000,844...5,028,470
Ensembl chr 8:5,000,845...5,015,802

G

baculoviral IAP repeat-containing 5

exacerbates

mRNA:increased expression:kidney (human)

NCBI chr10:103,072,530...103,081,382
Ensembl chr10:103,073,408...103,081,380

G

baculoviral IAP repeat-containing 6

ameliorates

mRNA:increased expression:kidney (human)

NCBI chr 6:20,722,922...20,916,396
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 8:53,796,033...53,825,277
Ensembl chr 8:53,796,366...53,824,748

G

chromodomain helicase DNA binding protein 4

mRNA:decreased expression:kidney (human)

NCBI chr 4:157,898,503...157,931,632
Ensembl chr 4:157,899,391...157,931,541

G

C-X-C motif chemokine ligand 12

mRNA:decreased expression:kidney:

RGD

NCBI chr 4:150,388,326...150,401,173
Ensembl chr 4:150,388,325...150,401,168

G

C-X-C motif chemokine receptor 4

mRNA:increased expression:kidney:

RGD

NCBI chr13:40,077,976...40,081,883
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 chr20:3,042,494...3,064,442
Ensembl chr20:3,044,320...3,064,468

G

DNA methyltransferase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659

G

DNA methyltransferase 3 alpha

CTD Direct Evidence: marker/mechanism

NCBI chr 6:26,791,517...26,902,161
Ensembl chr 6:26,822,609...26,896,687

G

egl-9 family hypoxia-inducible factor 3

disease_progression

RGD

NCBI chr 6:71,650,297...71,675,766
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 3:15,934,566...15,972,618
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 7:113,108,476...113,178,529
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 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486

G

Fms related receptor tyrosine kinase 4

CTD Direct Evidence: marker/mechanism

NCBI chr10:33,913,725...33,954,770
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 chr19:15,284,898...15,692,142
Ensembl chr19:15,349,696...15,692,083

G

GATA binding protein 1

disease_progression

RGD

NCBI chr X:14,529,706...14,537,530
Ensembl chr X:14,529,702...14,537,530

G

GATA binding protein 2

disease_progression

RGD

NCBI chr 4:120,654,205...120,667,763
Ensembl chr 4:120,658,986...120,667,761

G

glutathione S-transferase pi 1

RGD

NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226

G

HNF1 homeobox A

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

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

NCBI chr12:41,638,536...41,672,806
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 1:121,549,831...121,838,548
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 1:182,524,355...182,536,638
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 chr17:53,382,908...53,403,216
Ensembl chr17:53,383,131...53,403,216

G

microRNA 210

miRNA:increased expression:kidney (human)

RGD

NCBI chr 1:196,326,343...196,326,452
Ensembl chr 1:196,326,337...196,326,454

G

matrix metallopeptidase 12

RGD

NCBI chr 8:4,581,785...4,591,687
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 5:158,465,248...158,484,999
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 7:93,593,705...93,598,633
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 4:146,474,701...146,481,959
Ensembl chr 4:146,474,750...146,484,766

G

p21 (RAC1) activated kinase 4

disease_progression

RGD

NCBI chr 1:83,849,904...83,889,188
Ensembl chr 1:83,849,904...83,859,413

G

p21 (RAC1) activated kinase 6

disease_progression

RGD

NCBI chr 3:105,638,248...105,674,399
Ensembl chr 3:105,638,653...105,672,975

G

polybromo 1

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

NCBI chr16:6,213,507...6,312,895
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 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984

G

PML nuclear body scaffold

protein:decreased expression:kidney (human)

RGD

NCBI chr 8:58,627,347...58,661,927
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 chr14:17,302,326...17,303,130
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 8:110,511,808...110,597,475
Ensembl chr 8:110,511,772...110,597,489

G

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1

mRNA,protein:decreased expression:kidney:

RGD

NCBI chr20:12,741,164...12,763,616
Ensembl chr20:12,741,477...12,763,620

G

serine and arginine rich splicing factor 1

mRNA:altered expression:kidney (human)

RGD

NCBI chr10:72,838,926...72,859,066
Ensembl chr10:72,839,274...72,845,336

G

serine and arginine rich splicing factor 2

mRNA:altered expression:kidney (human)

RGD

NCBI chr10:102,052,158...102,055,365
Ensembl chr10:102,052,314...102,055,338

G

serine and arginine rich splicing factor 4

mRNA:altered expression:kidney (human)

RGD

NCBI chr 5:144,060,981...144,090,798
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 6:100,605,165...100,610,192
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 3:151,589,546...151,594,869
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 6:14,811,775...14,818,968
Ensembl chr 6:14,811,808...14,818,965

G

tumor protein p53

mRNA, protein:increased expression:kidney

RGD

NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524

G

vascular endothelial growth factor A

CTD Direct Evidence: marker/mechanism

NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641

G

X-linked inhibitor of apoptosis

ameliorates

mRNA:increased expression:kidney (human)

NCBI chr X:120,890,537...120,938,413
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:63,104,771...63,273,934
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 3:92,486,054...92,896,696
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 3:92,162,271...92,385,251
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 3:92,385,329...92,449,559
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 3:92,128,772...92,157,022
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 3:91,841,052...91,855,295
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 3:91,566,540...91,613,653
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 6:123,627,529...123,692,278
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 2:218,219,408...218,302,359
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 chr13:92,307,593...92,339,406
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 1:28,935,965...28,960,936
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 chr10:11,464,882...11,498,931
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 1:165,137,277...165,167,303
Ensembl chr 1:165,137,215...165,167,303

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 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709

G

APC membrane recruitment protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr X:60,300,595...60,316,480
Ensembl chr X:60,295,751...60,316,440

G

apolipoprotein C3

protein:increased expression:serum

RGD

NCBI chr 8:46,531,478...46,533,658
Ensembl chr 8:46,531,478...46,533,583

G

AT-rich interaction domain 1A

CTD Direct Evidence: marker/mechanism

NCBI chr 5:145,908,173...145,981,552
Ensembl chr 5:145,908,181...145,985,564

G

ASXL transcriptional regulator 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:141,814,012...141,881,526
Ensembl chr 3:141,813,433...141,881,538

G

Bcl2-like 1

disease_progression

RGD

NCBI chr 3:141,253,508...141,304,582
Ensembl chr 3:141,253,523...141,303,479

G

BCL6 co-repressor

CTD Direct Evidence: marker/mechanism

NCBI chr X:10,609,756...10,729,613
Ensembl chr X:10,687,732...10,729,613

G

BCL6 co-repressor-like 1

CTD Direct Evidence: marker/mechanism

NCBI chr X:127,516,504...127,584,529
Ensembl chr X:127,537,538...127,584,087

G

bone morphogenetic protein 7

mRNA:decreased expression:kidney

RGD

NCBI chr 3:161,639,915...161,716,938
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:12460918 PMID:12460919 More...

NCBI chr 4:68,375,484...68,510,652
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

OMIM
ClinVar
CTD
RGD

PMID:251866 PMID:278235 PMID:8589730 PMID:8673090 PMID:8988179 More...

NCBI chr12:59,492...103,789
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 4:159,966,883...159,989,261
Ensembl chr 4:159,962,363...159,989,495

G

CD44 molecule

RGD

NCBI chr 3:89,155,850...89,244,615
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 7:62,886,124...62,889,562
Ensembl chr 7:62,883,105...62,942,403

G

cyclin-dependent kinase inhibitor 1B

disease_progression

RGD

NCBI chr 4:167,760,067...167,765,177
Ensembl chr 4:167,760,181...167,764,982

G

cyclin-dependent kinase inhibitor 2A

protein:increased expression:kidney

RGD

NCBI chr 5:103,984,949...103,992,143
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 chr12:45,788,823...45,821,382
Ensembl chr12:45,788,827...45,821,286

G

collagen type VI alpha 3 chain

CTD Direct Evidence: marker/mechanism

NCBI chr 9:91,361,578...91,439,434
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:9065403 PMID:10027390 PMID:10435629 PMID:11351304 More...

RGD:2289833, RGD:2289834

NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111

G

C-X-C motif chemokine receptor 2

RGD

NCBI chr 9:75,729,493...75,735,868
Ensembl chr 9:75,729,115...75,739,425

G

DGCR8 microprocessor complex subunit

CTD Direct Evidence: marker/mechanism

NCBI chr11:82,704,673...82,737,251
Ensembl chr11:82,704,729...82,737,242

G

dicer 1 ribonuclease III

CTD Direct Evidence: marker/mechanism

NCBI chr 6:123,627,529...123,692,278
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 9:87,355,409...87,736,616
Ensembl chr 9:87,356,457...87,736,616

G

drosha ribonuclease III

CTD Direct Evidence: marker/mechanism

NCBI chr 2:61,864,886...61,976,688
Ensembl chr 2:61,864,970...61,976,688

G

erb-b2 receptor tyrosine kinase 2

protein:increased expression:kidney

RGD

NCBI chr10:83,411,197...83,435,078
Ensembl chr10:83,411,313...83,435,078

G

Fms related receptor tyrosine kinase 1

severity

RGD

NCBI chr12:7,296,899...7,468,626
Ensembl chr12:7,297,292...7,468,626

G

frizzled class receptor 6

ClinVar Annotator: match by term: Nephroblastoma

NCBI chr 7:70,055,012...70,086,781
Ensembl chr 7:70,055,068...70,086,776

G

frizzled class receptor 7

mRNA:increased expression:kidney

NCBI chr 9:60,931,433...60,934,252
Ensembl chr 9:60,930,875...60,935,781

G

GLI pathogenesis-related 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:47,487,342...47,498,974
Ensembl chr 7:47,487,345...47,498,429

G

glypican 3

ClinVar Annotator: match by term: Nephroblastoma | ClinVar Annotator: match by term: Wilms tumor 1 | ClinVar Annotator: match by term: Wilms tumor, somatic
ClinVar Annotator: match by term: Nephroblastoma | ClinVar Annotator: match by term: Wilms tumor | ClinVar Annotator: match by term: Wilms tumor 1 | ClinVar Annotator: match by term: Wilms tumor, somatic
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

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

NCBI chr X:131,868,986...132,236,824
Ensembl chr X:131,868,990...132,236,798

G

glypican 4

CTD Direct Evidence: marker/mechanism

NCBI chr X:131,644,711...131,755,349
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 6:92,624,059...92,669,262
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:132,736,175...132,768,149
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 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777

G

insulin-like growth factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018

G

insulin-like growth factor 2 receptor

RGD

NCBI chr 1:47,979,109...48,067,501
Ensembl chr 1:47,979,109...48,067,501

G

junction plakoglobin

disease_progression

RGD

NCBI chr10:85,300,438...85,327,378
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 chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652

G

lin-28 homolog A

OMIM:194070

NCBI chr 5:146,227,119...146,244,122
Ensembl chr 5:146,227,119...146,244,122

G

mitogen activated protein kinase kinase kinase 4

CTD Direct Evidence: marker/mechanism

NCBI chr 1:48,431,801...48,519,358
Ensembl chr 1:48,431,830...48,519,358

G

MYC associated factor X

CTD Direct Evidence: marker/mechanism

NCBI chr 6:95,636,859...95,662,204
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:132,422,584...132,422,661
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:132,422,072...132,422,167
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 5:158,465,248...158,484,999
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 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630

G

MYCN proto-oncogene, bHLH transcription factor

CTD Direct Evidence: marker/mechanism

NCBI chr 6:35,717,764...35,723,590
Ensembl chr 6:35,717,764...35,723,590

G

non-POU domain containing, octamer-binding

CTD Direct Evidence: marker/mechanism

NCBI chr X:66,554,131...66,571,992
Ensembl chr X:66,554,098...66,571,952

G

p21 (RAC1) activated kinase 1

mRNA:increased expression:kidney

RGD

NCBI chr 1:152,111,172...152,226,390
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 1:243,616,509...243,697,454
Ensembl chr 1:243,616,606...243,695,321

G

proliferating cell nuclear antigen

disease_progression

RGD

NCBI chr 3:119,499,039...119,502,911
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:132,656,658...132,699,720
Ensembl chr X:132,656,672...132,699,127

G

prostaglandin-endoperoxide synthase 2

protein:increased expression:kidney

RGD

NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188

G

RE1-silencing transcription factor

CTD Direct Evidence: marker/mechanism

NCBI chr14:30,859,109...30,879,828
Ensembl chr14:30,862,553...30,894,354

G

serpin family F member 1

protein:decreased expression:kidney

RGD

NCBI chr10:60,250,198...60,262,593
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 6:91,746,739...91,751,975
Ensembl chr 6:91,746,739...91,751,975

G

SIX homeobox 2

CTD Direct Evidence: marker/mechanism

NCBI chr 6:8,974,859...8,981,345
Ensembl chr 6:8,967,157...8,981,193

G

solute carrier family 2 member 1

severity

RGD

NCBI chr 5:132,717,196...132,745,416
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 chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438

G

signal transducer and activator of transcription 1

protein:increased serine phosphorylation:kidney

RGD

NCBI chr 9:49,419,561...49,459,969
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 chr10:85,811,206...85,863,057
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 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561

G

tet methylcytosine dioxygenase 2

ClinVar Annotator: match by term: Nephroblastoma

NCBI chr 2:221,988,645...222,072,813
Ensembl chr 2:221,988,645...222,072,534

G

TIMP metallopeptidase inhibitor 4

RGD

NCBI chr 4:148,306,021...148,312,558
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 chr10:83,945,731...83,976,874
Ensembl chr10:83,945,735...83,976,874

G

tumor protein p53

CTD Direct Evidence: marker/mechanism

NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524

G

tumor protein p73

DNA:loss of heterozygosity:kidney

RGD

NCBI chr 5:164,621,377...164,703,958
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 1:73,652,441...73,659,388
Ensembl chr 1:73,652,709...73,659,380

G

thyroid hormone receptor interactor 13

CTD Direct Evidence: marker/mechanism

NCBI chr 1:29,357,093...29,402,078
Ensembl chr 1:29,357,130...29,402,074

G

vascular endothelial growth factor C

disease_progression

RGD

NCBI chr16:37,712,251...37,827,845
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 4:146,772,483...146,779,376
Ensembl chr 4:146,772,468...146,779,377

G

Wnt inhibitory factor 1

mRNA:increased expression:kidney

RGD

NCBI chr 7:56,548,060...56,618,364
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 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643

G

exportin 5

CTD Direct Evidence: marker/mechanism

NCBI chr 9:14,740,182...14,778,171
Ensembl chr 9:14,740,182...14,778,171

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 4:146,481,196...146,492,039
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:12204536 PMID:12471204 PMID:15852235 PMID:16199547 PMID:17496196 More...

NCBI chr10:44,588,621...44,607,808
Ensembl chr10:44,588,624...44,607,769

G

HNF1 homeobox A

ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma

PMID:8945470 PMID:9112026 PMID:9133564 PMID:9287053 PMID:9604876 More...

NCBI chr12:41,638,536...41,672,806
Ensembl chr12:41,645,587...41,672,104

G

HNF1 homeobox B

ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma

PMID:15930087 PMID:16249435 PMID:16371430 PMID:17116179 PMID:18249217 More...

NCBI chr10:68,735,894...68,789,888
Ensembl chr10:68,735,894...68,789,888

G

8-oxoguanine DNA glycosylase

ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma

NCBI chr 4:146,474,701...146,481,959
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:7660122 PMID:7728151 PMID:7784063 PMID:7987306 PMID:8270255 More...

NCBI chr 4:146,772,483...146,779,376
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

A-Raf proto-oncogene, serine/threonine kinase

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

PMID:24569458 PMID:26619011

NCBI chr X:1,227,392...1,292,356
Ensembl chr X:1,227,392...1,239,073

G

baculoviral IAP repeat-containing 3

exacerbates

mRNA:increased expression:kidney (human)

NCBI chr 8:5,000,844...5,028,470
Ensembl chr 8:5,000,845...5,015,802

G

baculoviral IAP repeat-containing 5

disease_progression

mRNA:increased expression:kidney (human)

NCBI chr10:103,072,530...103,081,382
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 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463

G

cyclin-dependent kinase inhibitor 2A

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

PMID:25741868 PMID:26619011 PMID:28492532

NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149

G

erb-b2 receptor tyrosine kinase 2

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

PMID:18413839 PMID:22046346 PMID:23220880 PMID:25157968 PMID:26619011

NCBI chr10:83,411,197...83,435,078
Ensembl chr10:83,411,313...83,435,078

G

F-box and WD repeat domain containing 7

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

NCBI chr 2:170,149,706...170,311,536
Ensembl chr 2:170,149,694...170,309,941

G

fibroblast growth factor receptor 3

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

PMID:8589699 PMID:8845844 PMID:9438390 PMID:9843049 PMID:10471491 More...

NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341

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 1:196,290,127...196,299,823
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 1:196,299,843...196,315,170
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 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876

G

microRNA 210

miRNA:increased expression:kidney (human)

RGD

NCBI chr 1:196,326,343...196,326,452
Ensembl chr 1:196,326,337...196,326,454

G

mechanistic target of rapamycin kinase

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

PMID:20190810 PMID:24631838 PMID:25741868 PMID:26018084 PMID:26619011 More...

NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311

G

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

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

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

NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032

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

Ras homolog, mTORC1 binding

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

NCBI chr 4:10,278,970...10,320,160
Ensembl chr 4:10,279,370...10,320,160

G

tumor protein p53

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

PMID:1565143 PMID:7718482 PMID:7887414 PMID:8023157 PMID:8118819 More...

NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524

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 4:146,772,483...146,779,376
Ensembl chr 4:146,772,468...146,779,377

G

X-linked inhibitor of apoptosis

exacerbates

mRNA:increased expression:kidney (human)

NCBI chr X:120,890,537...120,938,413
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 9:87,748,721...87,761,500
Ensembl chr 9:87,753,648...87,757,836

G

alkaline phosphatase, intestinal

ClinVar Annotator: match by term: Perlman syndrome

NCBI chr 9:87,773,411...87,776,877
Ensembl chr 9:87,773,411...87,776,877

G

alkaline phosphatase, placental

ClinVar Annotator: match by term: Perlman syndrome

NCBI chr 9:87,765,846...87,768,606
Ensembl chr 9:87,765,860...87,768,606

G

armadillo repeat containing 9

ClinVar Annotator: match by term: Perlman syndrome

NCBI chr 9:86,802,791...86,928,611
Ensembl chr 9:86,802,868...86,928,860

G

autophagy related 16-like 1

ClinVar Annotator: match by term: Perlman syndrome

NCBI chr 9:88,420,737...88,457,530
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 9:86,463,095...86,524,545
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:25099282 PMID:28492532

NCBI chr 1:165,137,277...165,167,303
Ensembl chr 1:165,137,215...165,167,303

G

diacylglycerol kinase, delta

ClinVar Annotator: match by term: Perlman syndrome

NCBI chr 9:88,516,686...88,607,349
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 chr15:75,820,040...75,850,450
Ensembl chr15:75,823,436...75,850,642

G

DIS3-like 3'-5' exoribonuclease 2

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 9:87,355,409...87,736,616
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 9:88,795,542...88,796,555
Ensembl chr 9:88,795,488...88,796,560

G

endothelin converting enzyme-like 1

ClinVar Annotator: match by term: Perlman syndrome

NCBI chr 9:87,819,516...87,829,154
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 9:87,938,259...87,984,917
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 9:87,886,126...87,914,470
Ensembl chr 9:87,878,085...87,914,482

G

GRB10 interacting GYF protein 2

ClinVar Annotator: match by term: Perlman syndrome

NCBI chr 9:88,001,212...88,127,040
Ensembl chr 9:88,001,301...88,125,715

G

G protein-coupled receptor 55

ClinVar Annotator: match by term: Perlman syndrome

NCBI chr 9:86,584,906...86,640,601
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 9:86,735,793...86,756,638
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 9:86,999,588...87,008,112
Ensembl chr 9:86,998,019...87,008,136

G

neuraminidase 2

ClinVar Annotator: match by term: Perlman syndrome

NCBI chr 9:88,218,494...88,267,356
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 9:87,320,051...87,324,251
Ensembl chr 9:87,320,051...87,324,251

G

phosphodiesterase 6D

ClinVar Annotator: match by term: Perlman syndrome

NCBI chr 9:87,192,989...87,237,979
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 9:86,709,714...86,785,213
Ensembl chr 9:86,709,947...86,785,211

G

prothymosin alpha

ClinVar Annotator: match by term: Perlman syndrome

NCBI chr 9:87,176,251...87,180,333
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 9:86,310,990...86,377,036
Ensembl chr 9:86,311,032...86,377,034

G

SP110 nuclear body protein

ClinVar Annotator: match by term: Perlman syndrome

NCBI chr 9:86,200,503...86,225,355
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 9:89,006,858...89,026,676
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 9:88,897,039...88,990,167
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 9:88,801,344...88,808,465
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 9:88,791,216...88,808,465
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 9:88,780,328...88,808,465
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 9:88,762,250...88,808,465
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 9:88,747,213...88,808,465
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 9:88,696,981...88,808,465
Ensembl chr 9:88,713,184...88,808,465

G

ubiquitin specific peptidase 40

ClinVar Annotator: match by term: Perlman syndrome

NCBI chr 9:88,607,920...88,678,940
Ensembl chr 9:88,607,930...88,678,914

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 1:202,754,549...202,763,057
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 6:24,297,898...24,319,219
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 5:109,894,175...109,897,268
Ensembl chr 5:109,893,145...109,897,656

G

JunB proto-oncogene, AP-1 transcription factor subunit

mRNA:increased expression:kidney

RGD

NCBI chr19:23,176,265...23,178,049
Ensembl chr19:23,176,294...23,178,035

G

JunD proto-oncogene, AP-1 transcription factor subunit

mRNA:increased expression:kidney

RGD

NCBI chr16:18,734,121...18,735,799
Ensembl chr16:18,734,122...18,735,799

G

LETM1 domain containing 1

mRNA, protein:increased expression:kidney

RGD

NCBI chr 7:131,584,241...131,597,797
Ensembl chr 7:131,584,259...131,597,796

G

microcephalin 1

protein:decreased expression:kidney (human)

RGD

NCBI chr16:71,021,855...71,224,067
Ensembl chr16:71,024,588...71,224,122

G

MET proto-oncogene, receptor tyrosine kinase

ClinVar Annotator: match by term: Renal carcinoma

PMID:9024657 PMID:9140397 PMID:9326629 PMID:9563489 PMID:9731534 More...

NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876

G

mechanistic target of rapamycin kinase

ClinVar Annotator: match by term: Renal carcinoma

PMID:17360675 PMID:20190810 PMID:24622468 PMID:24631838 PMID:26018084 More...

NCBI chr 5:158,884,856...158,994,311
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 4:25,357,467...25,529,941
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 4:87,676,241...87,802,757
Ensembl chr 4:87,745,319...87,802,409

G

acetylcholinesterase

CTD Direct Evidence: marker/mechanism

NCBI chr12:19,406,133...19,413,713
Ensembl chr12:19,407,360...19,413,651

G

aminoacylase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:107,072,354...107,077,756
Ensembl chr 8:107,072,358...107,077,682

G

adhesion G protein-coupled receptor B1

severity

RGD

NCBI chr 7:106,404,827...106,476,902
Ensembl chr 7:106,404,958...106,476,902

G

adiponectin, C1Q and collagen domain containing

CTD Direct Evidence: marker/mechanism

NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564

G

alpha-fetoprotein

RGD

NCBI chr14:17,573,412...17,591,476
Ensembl chr14:17,573,412...17,591,480

G

angiotensin II receptor, type 1a

severity

protein:increased expression:kidney

RGD

NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946

G

angiotensin II receptor, type 2

disease_progression

protein:increased expression:kidney

RGD

NCBI chr X:112,119,876...112,124,060
Ensembl chr X:112,120,228...112,124,057

G

AHNAK nucleoprotein

CTD Direct Evidence: marker/mechanism

NCBI chr 1:205,882,225...205,970,934
Ensembl chr 1:205,882,273...205,970,926

G

A-kinase anchoring protein 13

CTD Direct Evidence: marker/mechanism

NCBI chr 1:129,313,183...129,619,647
Ensembl chr 1:129,314,402...129,619,646

G

AKT serine/threonine kinase 1

protein:increased serine phosphorylation:kidney

RGD

NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921

G

AKT serine/threonine kinase 3

susceptibility

DNA:missense mutation:exon, intron:multiple

RGD

NCBI chr13:88,943,708...89,225,831
Ensembl chr13:88,946,091...89,225,708

G

aminolevulinate dehydratase

CTD Direct Evidence: marker/mechanism

NCBI chr 5:75,961,993...75,972,334
Ensembl chr 5:75,961,993...75,972,474

G

aldehyde dehydrogenase 1 family, member A1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:218,000,470...218,152,962
Ensembl chr 1:218,042,127...218,152,961

G

ALK receptor tyrosine kinase

CTD Direct Evidence: marker/mechanism

NCBI chr 6:22,879,653...23,599,636
Ensembl chr 6:22,880,625...23,598,034

G

arachidonate 12-lipoxygenase, 12S type

protein:increased expression:kidney

RGD

NCBI chr10:54,958,263...54,970,542
Ensembl chr10:54,958,271...54,970,542

G

arachidonate 12-lipoxygenase, 12R type

CTD Direct Evidence: marker/mechanism

NCBI chr10:53,863,060...53,874,938
Ensembl chr10:53,863,060...53,874,938

G

arachidonate 5-lipoxygenase

CTD Direct Evidence: marker/mechanism

NCBI chr 4:149,531,329...149,578,696
Ensembl chr 4:149,531,515...149,578,743

G

alpha-methylacyl-CoA racemase

RGD

NCBI chr 2:59,946,158...59,958,255
Ensembl chr 2:59,946,153...59,958,255

G

angiogenin

protein:increased expression:serum

RGD

NCBI chr15:24,312,711...24,323,361

G

angiopoietin 1

severity

mRNA:altered expression:kidney

RGD

NCBI chr 7:73,528,345...73,783,953
Ensembl chr 7:73,531,486...73,784,067

G

annexin A1

RGD

NCBI chr 1:217,861,175...217,877,205
Ensembl chr 1:217,861,175...217,877,343

G

annexin A2

RGD

NCBI chr 8:70,105,268...70,141,663
Ensembl chr 8:70,105,253...70,141,658

G

annexin A4

CTD Direct Evidence: marker/mechanism

NCBI chr 4:119,184,378...119,241,183
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 7:25,494,143...25,579,540
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 chr18:25,828,558...25,925,511
Ensembl chr18:25,864,222...25,922,696

G

adenine phosphoribosyl transferase

CTD Direct Evidence: marker/mechanism

NCBI chr19:50,626,201...50,628,491
Ensembl chr19:50,626,202...50,628,431

G

aryl hydrocarbon receptor nuclear translocator

treatment

DNA:missense mutation: :pF446L (human)

RGD

NCBI chr 2:182,997,731...183,056,584
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 4:46,400,485...46,456,085
Ensembl chr 4:46,400,485...46,456,085

G

ATM serine/threonine kinase

ClinVar Annotator: match by term: Renal adenocarcinoma

NCBI chr 8:53,828,741...53,932,773
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 3:161,128,309...161,144,524
Ensembl chr 3:161,128,313...161,144,390

G

BCL2-associated agonist of cell death

RGD

NCBI chr 1:204,133,502...204,142,829
Ensembl chr 1:204,131,501...204,142,823

G

BCL2-antagonist/killer 1

severity

RGD

NCBI chr20:5,100,480...5,109,669
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 chr16:6,446,709...6,455,535
Ensembl chr16:6,446,709...6,455,535

G

butyrylcholinesterase

CTD Direct Evidence: marker/mechanism

NCBI chr 2:158,308,674...158,401,148
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 chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743

G

Bcl2-like 1

RGD

NCBI chr 3:141,253,508...141,304,582
Ensembl chr 3:141,253,523...141,303,479

G

BCL2-interacting killer

protein:decreased expression:kidney

RGD

NCBI chr 7:114,672,277...114,691,296
Ensembl chr 7:114,672,277...114,691,296

G

baculoviral IAP repeat-containing 2

disease_progression

mRNA:altered expression:kidney

RGD

NCBI chr 8:4,968,856...4,989,325
Ensembl chr 8:4,968,842...4,988,732

G

baculoviral IAP repeat-containing 3

mRNA:altered expression:kidney

RGD

NCBI chr 8:5,000,844...5,028,470
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 chr10:103,072,530...103,081,382
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 3:168,047,824...168,052,606
Ensembl chr 3:168,047,824...168,052,606

G

bone morphogenetic protein 4

severity

RGD

NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306

G

bone morphogenetic protein 6

mRNA,protein:increased expression:kidney

RGD

NCBI chr17:26,318,121...26,469,691
Ensembl chr17:26,318,569...26,470,365

G

bone morphogenetic protein 7

disease_progression

RGD

NCBI chr 3:161,639,915...161,716,938
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 7:9,993,170...10,000,387
Ensembl chr 7:9,993,170...10,000,387

G

BTG anti-proliferation factor 2

mRNA:decreased expression:kidney

RGD

NCBI chr13:45,531,881...45,535,642
Ensembl chr13:45,531,925...45,535,628

G

BTG anti-proliferation factor 3

CTD Direct Evidence: marker/mechanism

NCBI chr11:17,030,156...17,046,069
Ensembl chr11:17,030,160...17,046,170

G

complement C4A

disease_progression

RGD

NCBI chr20:4,005,731...4,020,083
Ensembl chr20:4,005,731...4,020,080

G

complement C4B

disease_progression

RGD

NCBI chr20:4,197,371...4,211,684
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 8:53,796,033...53,825,277
Ensembl chr 8:53,796,366...53,824,748

G

carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase

RGD

NCBI chr 6:25,292,133...25,315,078
Ensembl chr 6:25,292,133...25,319,861

G

capping actin protein, gelsolin like

CTD Direct Evidence: marker/mechanism

NCBI chr 4:104,594,743...104,611,856
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 4:45,978,142...46,014,032
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 5:57,763,234...57,769,838
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 4:71,149,632...71,167,388
Ensembl chr 4:71,149,669...71,167,379

G

caspase 3

RGD

NCBI chr16:45,662,910...45,681,171
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 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705

G

cyclin B1

disease_progression

protein:increased expression:kidney

RGD

NCBI chr 2:31,912,190...31,921,163
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 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602

G

cyclin D3

disease_progression

RGD

NCBI chr 9:13,394,161...13,400,341
Ensembl chr 9:13,394,169...13,489,371

G

cyclin E1

mRNA, protein:increased expression:kidney

RGD

NCBI chr 1:90,781,947...90,791,188
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 3:153,790,372...153,805,279
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 3:89,155,850...89,244,615
Ensembl chr 3:89,157,058...89,244,620

G

CD46 molecule

RGD

NCBI chr13:106,575,586...106,606,325
Ensembl chr13:106,574,858...106,660,445

G

cell division cycle 14B

severity

mRNA:decreased expression:kidney:

RGD

NCBI chr17:844,686...934,787
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 chr19:34,492,371...34,561,775
Ensembl chr19:34,492,371...34,561,775

G

cyclin dependent kinase 2

RGD

NCBI chr 7:1,129,878...1,137,431
Ensembl chr 7:1,129,811...1,137,403

G

cyclin-dependent kinase 4

protein:increased expression:kidney

RGD

NCBI chr 7:62,886,124...62,889,562
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 4:167,760,067...167,765,177
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 5:103,984,949...103,992,143
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 5:104,009,839...104,019,082
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 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756

G

calponin 2

CTD Direct Evidence: marker/mechanism

NCBI chr 7:9,712,505...9,719,678
Ensembl chr 7:9,712,516...9,719,656

G

catechol-O-methyltransferase

susceptibility

DNA:polymorphism:exon

RGD

NCBI chr11:82,568,052...82,587,642
Ensembl chr11:82,568,025...82,587,642

G

carboxypeptidase Q

CTD Direct Evidence: marker/mechanism

NCBI chr 7:64,264,025...64,830,867
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 7:29,940,240...29,952,907
Ensembl chr 7:29,798,586...29,952,907

G

C-reactive protein

disease_progression

RGD

NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178

G

crystallin, alpha B

CTD Direct Evidence: marker/mechanism

NCBI chr 8:51,093,441...51,099,161
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 chr18:54,546,673...54,590,418
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 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963

G

catenin alpha 1

disease_progression

protein:decreased expression:kidney

RGD

NCBI chr18:26,728,246...26,860,911
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 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111

G

cathepsin B

CTD Direct Evidence: marker/mechanism

NCBI chr15:37,389,636...37,410,508
Ensembl chr15:37,389,629...37,410,500

G

cathepsin D

CTD Direct Evidence: marker/mechanism

NCBI chr 1:197,527,467...197,539,343
Ensembl chr 1:197,527,467...197,539,488

G

cullin 7

CTD Direct Evidence: marker/mechanism

NCBI chr 9:14,319,102...14,333,035
Ensembl chr 9:14,319,108...14,332,741

G

C-X-C motif chemokine receptor 2

RGD

NCBI chr 9:75,729,493...75,735,868
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 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125

G

death associated protein kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr17:3,930,223...4,090,991
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 1:159,990,785...160,077,990
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 7:8,533,248...8,538,518
Ensembl chr 7:8,533,116...8,559,183

G

epidermal growth factor receptor

protein:increased expression:tumor

RGD

NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382

G

egl-9 family hypoxia-inducible factor 1

protein:increased expression:kidney

RGD

NCBI chr19:52,867,900...52,907,308
Ensembl chr19:52,869,486...52,907,777

G

egl-9 family hypoxia-inducible factor 2

protein:increased expression:kidney

RGD

NCBI chr 1:82,451,554...82,459,809
Ensembl chr 1:82,451,555...82,459,751

G

egl-9 family hypoxia-inducible factor 3

protein:increased expression:serum

RGD

NCBI chr 6:71,650,297...71,675,766
Ensembl chr 6:71,650,297...71,675,766

G

elongin C

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

PMID:23797736 PMID:26619011

NCBI chr 5:2,661,527...2,677,893
Ensembl chr 5:2,661,724...2,677,890

G

endothelial PAS domain protein 1

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:21131975 PMID:12750296

NCBI chr 6:7,790,236...7,871,717
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 chr10:83,411,197...83,435,078
Ensembl chr10:83,411,313...83,435,078

G

erb-b2 receptor tyrosine kinase 4

mRNA, protein:decreased expression:kidney

RGD

NCBI chr 9:69,523,733...70,596,743
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 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591

G

Fas ligand

RGD

PMID:17641033 PMID:11435457

RGD:2290051, RGD:2290132

NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215

G

fibroblast growth factor 2

disease_progression

protein:increased expression:serum

RGD

NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221

G

Fibroblast growth factor receptor 1

disease_progression

RGD

NCBI chr16:66,491,930...66,547,161
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 chr15:13,935,029...15,442,620
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 chr10:44,588,621...44,607,808
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 chr12:7,296,899...7,468,626
Ensembl chr12:7,297,292...7,468,626

G

formin 2

CTD Direct Evidence: marker/mechanism

NCBI chr13:86,454,256...86,771,437
Ensembl chr13:86,453,926...86,771,411

G

fibronectin 1

severity

RGD

NCBI chr 9:73,196,044...73,264,695
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 7:52,711,255...52,792,738
Ensembl chr 7:52,711,257...52,792,743

G

FTO, alpha-ketoglutarate dependent dioxygenase

treatment

RGD

NCBI chr19:15,284,898...15,692,142
Ensembl chr19:15,349,696...15,692,083

G

growth hormone releasing hormone

RGD

NCBI chr 3:145,992,762...146,012,528
Ensembl chr 3:145,992,763...146,011,889

G

gap junction protein, beta 1

CTD Direct Evidence: marker/mechanism

NCBI chr X:66,501,848...66,509,783
Ensembl chr X:66,501,820...66,509,925

G

growth factor receptor bound protein 7

CTD Direct Evidence: marker/mechanism

NCBI chr10:83,443,387...83,453,057
Ensembl chr10:83,444,004...83,453,052

G

glutathione-disulfide reductase

protein:decreased expression:kidney:

RGD

NCBI chr16:58,482,209...58,525,256
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 2:195,649,845...195,655,402
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 1:201,337,762...201,340,230
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 chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585

G

histidyl-tRNA synthetase 1

CTD Direct Evidence: marker/mechanism

NCBI chr18:28,381,649...28,398,699
Ensembl chr18:28,381,655...28,398,740

G

hepatitis A virus cellular receptor 1

disease_progression

RGD

NCBI chr10:31,118,667...31,151,730
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 chr10:30,882,484...30,914,018
Ensembl chr10:30,882,606...30,909,137

G

hypoxia inducible factor 1 subunit alpha

disease_progression

RGD

NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261

G

HNF1 homeobox A

CTD Direct Evidence: marker/mechanism

NCBI chr12:41,638,536...41,672,806
Ensembl chr12:41,645,587...41,672,104

G

HNF1 homeobox B

CTD Direct Evidence: marker/mechanism

NCBI chr10:68,735,894...68,789,888
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 chr18:26,536,131...26,554,294
Ensembl chr18:26,535,798...26,554,292

G

heat shock protein family B (small) member 1

CTD Direct Evidence: marker/mechanism

NCBI chr12:20,794,014...20,795,675
Ensembl chr12:20,794,028...20,795,743

G

heat shock protein family D (Hsp60) member 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:56,579,195...56,590,011
Ensembl chr 9:56,579,201...56,589,662

G

insulin-like growth factor 1 receptor

RGD

NCBI chr 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777

G

insulin-like growth factor binding protein 3

RGD

NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083

G

insulin-like growth factor binding protein 7

mRNA:decreased expression:kidney

RGD

NCBI chr14:30,737,414...30,797,317
Ensembl chr14:30,737,164...30,797,314

G

interleukin 13

CTD Direct Evidence: marker/mechanism

NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737

G

interleukin 1 receptor antagonist

RGD

NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445

G

interleukin 2

RGD

NCBI chr 2:120,004,862...120,009,566
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 1:180,115,061...180,139,981
Ensembl chr 1:180,115,120...180,139,980

G

interleukin 6

CTD Direct Evidence: marker/mechanism

NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178

G

interleukin 6 receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 2:175,289,157...175,347,719
Ensembl chr 2:175,298,686...175,347,536

G

inositol polyphosphate-4-phosphatase type II B

CTD Direct Evidence: marker/mechanism

NCBI chr19:25,920,189...26,670,085
Ensembl chr19:25,925,358...26,280,634

G

insulin receptor

RGD

NCBI chr12:1,193,193...1,330,976
Ensembl chr12:1,197,100...1,330,883

G

Jun proto-oncogene, AP-1 transcription factor subunit

RGD

NCBI chr 5:109,894,175...109,897,268
Ensembl chr 5:109,893,145...109,897,656

G

junction plakoglobin

RGD

PMID:15701841 PMID:9891472

RGD:2291866, RGD:2291890

NCBI chr10:85,300,438...85,327,378
Ensembl chr10:85,300,440...85,327,057

G

KN motif and ankyrin repeat domains 1

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

RGD

NCBI chr 1:222,877,962...223,074,514
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 chr13:103,722,140...104,024,762
Ensembl chr13:103,722,245...104,024,740

G

potassium calcium-activated channel subfamily M alpha 1

CTD Direct Evidence: marker/mechanism

NCBI chr15:302,480...1,007,675
Ensembl chr15:302,214...1,001,198

G

lysine demethylase 4C

DNA:deletion:cds (human)

RGD

NCBI chr 5:88,100,710...88,306,821
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 chr10:54,120,716...54,142,212
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 chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018

G

Kelch-like ECH-associated protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:19,768,375...19,777,862
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 chr14:32,547,459...32,624,694
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 4:178,185,418...178,218,484

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 7:132,528,881...132,545,052
Ensembl chr 7:132,528,895...132,545,052

G

keratin 8

CTD Direct Evidence: marker/mechanism

NCBI chr 7:133,124,203...133,131,656
Ensembl chr 7:133,124,203...133,131,728

G

L1 cell adhesion molecule

CTD Direct Evidence: marker/mechanism

NCBI chr X:151,597,270...151,623,776
Ensembl chr X:151,597,277...151,623,857

G

lactate dehydrogenase B

CTD Direct Evidence: marker/mechanism

NCBI chr 4:175,428,382...175,446,403
Ensembl chr 4:175,428,385...175,446,403

G

leptin

resistance

RGD

NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262

G

lectin, mannose-binding 2-like

CTD Direct Evidence: marker/mechanism

NCBI chr 9:38,661,709...38,685,244
Ensembl chr 9:38,661,712...38,685,337

G

leucyl and cystinyl aminopeptidase

RGD

NCBI chr 1:58,258,642...58,355,532
Ensembl chr 1:58,258,642...58,354,544

G

LDL receptor related protein 1B

CTD Direct Evidence: marker/mechanism

NCBI chr 3:24,594,302...26,715,037
Ensembl chr 3:24,594,991...26,715,505

G

leucine-rich repeat kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 7:122,826,696...122,987,711
Ensembl chr 7:122,826,696...122,987,703

G

lactotransferrin

RGD

NCBI chr 8:110,999,948...111,022,795
Ensembl chr 8:110,999,948...111,022,795

G

mannose-6-phosphate receptor, cation dependent

CTD Direct Evidence: marker/mechanism

NCBI chr 4:155,501,080...155,510,219
Ensembl chr 4:155,500,921...155,510,216

G

mesencephalic astrocyte-derived neurotrophic factor

susceptibility

RGD

NCBI chr 8:107,500,856...107,551,595
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 8:64,683,449...64,754,900
Ensembl chr 8:64,683,449...64,755,147

G

mitogen activated protein kinase 1

susceptibility

DNA:missense mutation: :multiple

RGD

NCBI chr11:83,957,813...84,023,629
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 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 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876

G

matrix Gla protein

disease_progression

RGD

NCBI chr 4:169,766,290...169,769,612
Ensembl chr 4:169,766,279...169,769,667

G

microRNA 31

severity

RNA:decreased expression:proximal convoluted tubule (human)

RGD

NCBI chr 5:103,599,038...103,599,143

G

melanocyte inducing transcription factor

CTD Direct Evidence: marker/mechanism

NCBI chr 4:130,409,020...130,621,145
Ensembl chr 4:130,409,217...130,621,145

G

mutL homolog 1

protein:decreased expression:kidney

RGD

NCBI chr 8:111,196,468...111,233,721
Ensembl chr 8:111,196,468...111,233,617

G

MLLT10, histone lysine methyltransferase DOT1L cofactor

CTD Direct Evidence: marker/mechanism

NCBI chr17:80,821,870...80,949,349
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 8:4,658,588...4,679,099
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 chr19:14,154,657...14,182,870
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 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961

G

matrix metallopeptidase 9

mRNA:increased expression:kidney

RGD

NCBI chr 3:153,684,158...153,692,118
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 6:33,912,787...33,913,427
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 6:6,813,793...6,872,960
Ensembl chr 6:6,813,795...6,872,938

G

methylenetetrahydrofolate reductase

susceptibility

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

RGD

NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797

G

mechanistic target of rapamycin kinase

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

ClinVar
CTD
RGD

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

NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311

G

mucin 1, cell surface associated

disease_progression

RGD

NCBI chr 2:174,635,989...174,640,738
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 7:93,593,705...93,598,633
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 7:98,684,487...98,725,869
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 chr14:79,627,399...79,710,709
Ensembl chr14:79,627,399...79,710,667

G

NFE2 like bZIP transcription factor 2

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

NCBI chr 3:60,594,239...60,621,712
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 chr10:78,907,036...78,929,659
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 8:48,928,663...48,947,734
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 chr18:31,271,681...31,393,320
Ensembl chr18:31,271,681...31,393,375

G

NRAS proto-oncogene, GTPase

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

PMID:1654209 PMID:2278970 PMID:2674680 PMID:3122217 PMID:6587382 More...

NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626

G

neuropilin 1

disease_progression

RGD

NCBI chr19:56,359,455...56,514,628
Ensembl chr19:56,359,455...56,513,633

G

8-oxoguanine DNA glycosylase

CTD Direct Evidence: marker/mechanism

PMID:18218111 PMID:10987279

RGD:2317140, RGD:1600295

NCBI chr 4:146,474,701...146,481,959
Ensembl chr 4:146,474,750...146,484,766

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 1:152,111,172...152,226,390
Ensembl chr 1:152,111,188...152,226,383

G

polybromo 1

CTD Direct Evidence: marker/mechanism

PMID:22138691 PMID:23797736 PMID:21654818

NCBI chr16:6,213,507...6,312,895
Ensembl chr16:6,213,300...6,311,780

G

proliferating cell nuclear antigen

severity

RGD

NCBI chr 3:119,499,039...119,502,911
Ensembl chr 3:119,498,810...119,502,995

G

programmed cell death 1

disease_progression

RGD

NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937

G

platelet derived growth factor receptor alpha

disease_progression

protein:increased expression:kidney

RGD

NCBI chr14:33,005,838...33,054,347
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 chr18:54,499,962...54,538,840
Ensembl chr18:54,499,964...54,538,843

G

pyruvate dehydrogenase E1 subunit beta

CTD Direct Evidence: marker/mechanism

NCBI chr15:16,752,561...16,758,503
Ensembl chr15:16,750,980...16,758,500

G

podoplanin

disease_progression

RGD

NCBI chr 5:155,601,691...155,635,656
Ensembl chr 5:155,601,691...155,635,656

G

pyridoxal-dependent decarboxylase domain containing 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:2,025,056...2,113,712
Ensembl chr10:2,025,360...2,113,520

G

phosphatidylethanolamine binding protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr12:39,302,864...39,307,064
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 6:104,816,102...104,826,685
Ensembl chr 6:104,816,104...104,826,685

G

phosphoglycerate kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr X:71,271,454...71,287,429
Ensembl chr X:71,271,440...71,287,418

G

p53-induced death domain protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:196,536,815...196,542,808
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 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032

G

phosphoinositide-3-kinase regulatory subunit 1

disease_progression

RGD

NCBI chr 2:32,878,942...32,963,668
Ensembl chr 2:32,882,032...32,963,631

G

plasminogen activator, urokinase

severity

mRNA:increased expression:kidney (human)

RGD

NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775

G

phospholipase D2

protein:increased expression:kidney

RGD

NCBI chr10:55,256,326...55,274,192
Ensembl chr10:55,256,359...55,272,808

G

prostate transmembrane protein, androgen induced 1

mRNA:increased expression:kidney

RGD

NCBI chr 3:162,011,884...162,060,343
Ensembl chr 3:162,012,751...162,060,454

G

PNKD metallo-beta-lactamase domain containing

CTD Direct Evidence: marker/mechanism

NCBI chr 9:75,868,620...75,937,126
Ensembl chr 9:75,867,468...75,937,124

G

proopiomelanocortin

CTD Direct Evidence: marker/mechanism

NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664

G

phosphoribosyl pyrophosphate amidotransferase

protein:increased activity:tumor (rat)

RGD

NCBI chr14:31,215,741...31,250,144
Ensembl chr14:31,216,165...31,250,144

G

PRAME like, X-linked 1

CTD Direct Evidence: marker/mechanism

NCBI chr X:98,567,994...98,574,654
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 chr20:4,667,044...4,672,512
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 cell carcinoma
protein:decreased expression:kidney (rat)
CTD Direct Evidence: marker/mechanism

ClinVar
CTD
RGD

PMID:1945792 PMID:9467011 PMID:9915974 PMID:10866302 PMID:11051241 More...

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

NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838

G

prostaglandin-endoperoxide synthase 1

mRNA:increased expression:kidney

RGD

NCBI chr 3:19,584,015...19,605,589
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 chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188

G

parvalbumin

CTD Direct Evidence: marker/mechanism

NCBI chr 7:109,772,939...109,787,954
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 8:108,225,023...108,236,164
Ensembl chr 8:108,225,023...108,236,164

G

RB transcriptional corepressor 1

disease_progression

RGD

NCBI chr15:48,371,295...48,502,473
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 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484

G

Ras homolog, mTORC1 binding

ClinVar Annotator: match by term: Renal adenocarcinoma

NCBI chr 4:10,278,970...10,320,160
Ensembl chr 4:10,279,370...10,320,160

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 8:120,286,035...120,289,160
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 chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258

G

ryanodine receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:84,292,578...84,423,824
Ensembl chr 1:84,292,578...84,423,812

G

scavenger receptor class B, member 1

CTD Direct Evidence: marker/mechanism

NCBI chr12:31,296,143...31,362,649
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 5:153,264,906...153,285,570
Ensembl chr 5:153,264,899...153,314,293

G

succinate dehydrogenase complex subunit D

RGD

NCBI chr 8:50,944,702...50,954,298
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 8:110,511,808...110,597,475
Ensembl chr 8:110,511,772...110,597,489

G

splicing factor 3b, subunit 1

ClinVar Annotator: match by term: Renal adenocarcinoma

NCBI chr 9:56,492,403...56,532,300
Ensembl chr 9:56,492,403...56,532,300

G

splicing factor 3b, subunit 2

ClinVar Annotator: match by term: Renal adenocarcinoma

NCBI chr 1:202,570,423...202,590,774
Ensembl chr 1:202,570,423...202,590,759

G

secreted frizzled-related protein 1

mRNA:decreased expression:kidney

RGD

NCBI chr16:68,575,763...68,614,180
Ensembl chr16:68,575,763...68,614,286

G

secreted frizzled-related protein 2

CTD Direct Evidence: marker/mechanism

NCBI chr 2:169,089,517...169,097,064
Ensembl chr 2:169,089,517...169,097,063

G

SH3 and multiple ankyrin repeat domains 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:94,807,879...94,857,356
Ensembl chr 1:94,808,276...94,855,824

G

S-phase kinase associated protein 2

disease_progression

RGD

NCBI chr 2:58,161,226...58,189,293
Ensembl chr 2:58,161,229...58,189,338

G

solute carrier family 2 member 1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:132,717,196...132,745,416
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 chr11:31,313,847...31,316,293
Ensembl chr11:31,295,476...31,318,883

G

SMAD family member 2

severity

protein:decreased expression:kidney

RGD

NCBI chr18:69,849,884...69,918,926
Ensembl chr18:69,850,377...69,912,323

G

SMAD family member 4

severity

protein:decreased expression:kidney

RGD

NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438

G

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1

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 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189

G

secreted protein acidic and cysteine rich

mRNA, protein:increased expression:kidney

RGD

NCBI chr10:39,516,394...39,538,252
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 chr18:35,870,723...35,882,693
Ensembl chr18:35,824,550...35,882,642

G

spectrin, beta, non-erythrocytic 4

CTD Direct Evidence: marker/mechanism

NCBI chr 1:82,650,750...82,738,345
Ensembl chr 1:82,650,751...82,737,228

G

ST14 transmembrane serine protease matriptase

protein:increased expression:kidney

RGD

NCBI chr 8:29,540,805...29,581,704
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 4:46,041,655...46,289,745
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 chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057

G

spectrin repeat containing nuclear envelope protein 2

CTD Direct Evidence: marker/mechanism

NCBI chr 6:94,537,088...94,848,085
Ensembl chr 6:94,537,088...94,848,064

G

transgelin 2

CTD Direct Evidence: marker/mechanism

NCBI chr13:84,966,980...84,973,973
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 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561

G

tet methylcytosine dioxygenase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 2:221,988,645...222,072,813
Ensembl chr 2:221,988,645...222,072,534

G

transcription factor binding to IGHM enhancer 3

CTD Direct Evidence: marker/mechanism

CTD
RGD

NCBI chr X:14,729,547...14,742,830
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 chr11:68,163,413...68,185,257
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 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847

G

transglutaminase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 3:146,772,684...146,801,924
Ensembl chr 3:146,772,687...146,801,981

G

thyroid hormone receptor alpha

DNA:mutations (human)

RGD

NCBI chr10:83,701,885...83,729,408
Ensembl chr10:83,700,755...83,729,936

G

thyroid hormone receptor beta

DNA:mutations (human)

RGD

NCBI chr15:7,685,180...8,031,920
Ensembl chr15:7,685,180...7,882,916

G

TIMP metallopeptidase inhibitor 1

disease_progression

protein:increased expression:kidney

RGD

NCBI chr X:1,212,969...1,217,714
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 chr10:103,541,199...103,590,611
Ensembl chr10:103,531,505...103,590,611

G

TIMP metallopeptidase inhibitor 3

mRNA:decreased expression:kidney

RGD

NCBI chr 7:17,520,827...17,571,850
Ensembl chr 7:17,521,919...17,571,839

G

TIMP metallopeptidase inhibitor 4

mRNA:decreased expression:kidney

RGD

NCBI chr 4:148,306,021...148,312,558
Ensembl chr 4:148,304,490...148,312,558

G

toll-like receptor 9

severity

protein:decreased expression:tumor, cytoplasm (human)

RGD

NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796

G

tumor necrosis factor

RGD

PMID:19384924 PMID:19904265

RGD:2315119, RGD:2315113

NCBI chr20:3,622,011...3,624,629
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 chr15:44,840,386...44,868,318
Ensembl chr15:44,840,386...44,867,467

G

TNF receptor superfamily member 1A

protein:increased expression:serum (human)

RGD

NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591

G

TNF receptor superfamily member 1B

RGD

NCBI chr 5:157,070,642...157,104,216
Ensembl chr 5:157,070,642...157,104,206

G

TNF superfamily member 10

CTD Direct Evidence: therapeutic

NCBI chr 2:110,199,835...110,227,239
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:253702 PMID:960674 PMID:1349175 PMID:1565143 PMID:1565144 More...

NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524

G

tumor protein p73

RGD

NCBI chr 5:164,621,377...164,703,958
Ensembl chr 5:164,621,377...164,681,128

G

TSC complex subunit 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:11,969,547...12,018,591
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 chr10:13,621,135...13,655,773
Ensembl chr10:13,621,136...13,655,951

G

thioredoxin interacting protein

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

RGD

NCBI chr 2:184,093,079...184,096,882
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 7:120,438,768...120,444,088
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:942,838...1,105,313
Ensembl chr Y:924,168...1,103,422

G

vitamin D receptor

GAD

NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677

G

vascular endothelial growth factor A

disease_progression

RGD

NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641

G

vascular endothelial growth factor C

RGD

NCBI chr16:37,712,251...37,827,845
Ensembl chr16:37,712,262...37,827,848

G

von Hippel-Lindau tumor suppressor

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 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 4:146,772,483...146,779,376
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 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539

G

Wnt inhibitory factor 1

DNA:hypermethylation:promoter

RGD

NCBI chr 7:56,548,060...56,618,364
Ensembl chr 7:56,548,053...56,618,360

G

Wnt family member 11

RGD

NCBI chr 1:153,134,503...153,154,294
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 4:46,328,408...46,374,673
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:120,890,537...120,938,413
Ensembl chr X:120,897,907...120,934,700

G

X-ray repair cross complementing 1

susceptibility

DNA:SNP: :p.R399Q

RGD

NCBI chr 1:80,140,495...80,168,705
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 3:67,033,481...67,267,769
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 4:46,400,485...46,456,085
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 8:53,828,741...53,932,773
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 8:53,796,033...53,825,277
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 4:45,978,142...46,014,032
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 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756

G

catenin beta 1

ClinVar Annotator: match by term: Renal cell carcinoma 1

NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111

G

elongin C

ClinVar Annotator: match by term: Renal cell carcinoma 1

NCBI chr 5:2,661,527...2,677,893
Ensembl chr 5:2,661,724...2,677,890

G

MET proto-oncogene, receptor tyrosine kinase

ClinVar Annotator: match by term: Renal cell carcinoma 1

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

NCBI chr 4:45,790,456...45,898,139
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 6:6,813,793...6,872,960
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:20190810 PMID:22729223 PMID:24631838 PMID:25599672 PMID:25741868 More...

NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311

G

NFE2 like bZIP transcription factor 2

ClinVar Annotator: match by term: Renal cell carcinoma 1

NCBI chr 3:60,594,239...60,621,712
Ensembl chr 3:60,594,242...60,621,737

G

NRAS proto-oncogene, GTPase

ClinVar Annotator: match by term: Renal cell carcinoma 1

PMID:1654209 PMID:2278970 PMID:2674680 PMID:3122217 PMID:6587382 More...

NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626

G

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

ClinVar Annotator: match by term: Renal cell carcinoma 1

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

NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032

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

phosphatase and tensin homolog

ClinVar Annotator: match by term: Renal cell carcinoma 1

PMID:1945792 PMID:9467011 PMID:9915974 PMID:10866302 PMID:11051241 More...

NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838

G

Ras homolog, mTORC1 binding

ClinVar Annotator: match by term: Renal cell carcinoma 1

NCBI chr 4:10,278,970...10,320,160
Ensembl chr 4:10,279,370...10,320,160

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 5:153,264,906...153,285,570
Ensembl chr 5:153,264,899...153,314,293

G

splicing factor 3b, subunit 1

ClinVar Annotator: match by term: Renal cell carcinoma 1

NCBI chr 9:56,492,403...56,532,300
Ensembl chr 9:56,492,403...56,532,300

G

splicing factor 3b, subunit 2

ClinVar Annotator: match by term: Renal cell carcinoma 1

NCBI chr 1:202,570,423...202,590,774
Ensembl chr 1:202,570,423...202,590,759

G

suppression of tumorigenicity 7

ClinVar Annotator: match by term: Renal cell carcinoma 1

NCBI chr 4:46,041,655...46,289,745
Ensembl chr 4:46,042,236...46,289,740

G

tumor protein p53

ClinVar Annotator: match by term: Renal cell carcinoma 1

PMID:253702 PMID:960674 PMID:1349175 PMID:1565143 PMID:1565144 More...

NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524

G

von Hippel-Lindau tumor suppressor

ClinVar Annotator: match by term: Renal cell carcinoma 1

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

NCBI chr 4:146,772,483...146,779,376
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 4:46,328,408...46,374,673
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:14,729,547...14,742,830
Ensembl chr X:14,729,550...14,742,571

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 chr17:81,332,175...81,341,625
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 4:76,624,399...76,687,362
Ensembl chr 4:76,624,399...76,687,362

G

glypican 3

disease_progression

mRNA, protein:increased expression:kidney (human)

NCBI chr X:131,868,986...132,236,824
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 1:243,616,509...243,697,454
Ensembl chr 1:243,616,606...243,695,321

G

spalt-like transcription factor 1

human tumor in mouse model

RGD

NCBI chr19:18,005,782...18,022,705
Ensembl chr19:18,007,503...18,022,705

G

SIX homeobox 2

human tumor in mouse model

RGD

NCBI chr 6:8,974,859...8,981,345
Ensembl chr 6:8,967,157...8,981,193

G

SUZ12 polycomb repressive complex 2 subunit

human tumor in mouse model

RGD

NCBI chr10:64,967,035...65,012,916
Ensembl chr10:64,966,967...65,012,738

G

TEK receptor tyrosine kinase

human tumor in mouse model

RGD

NCBI chr 5:109,607,077...109,733,805
Ensembl chr 5:109,607,077...109,733,804

G

vascular endothelial growth factor A

human tumor in mouse model

RGD

NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641

G

WT1 transcription factor

human tumor in mouse model

RGD

NCBI chr 3:91,566,540...91,613,653
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 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630

G

piggyBac transposable element derived 5

CTD Direct Evidence: marker/mechanism

NCBI chr19:52,336,751...52,401,906
Ensembl chr19:52,336,751...52,402,397

G

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1

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 chr20:12,741,164...12,763,616
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

A-Raf proto-oncogene, serine/threonine kinase

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

PMID:24569458 PMID:26619011

NCBI chr X:1,227,392...1,292,356
Ensembl chr X:1,227,392...1,239,073

G

B-Raf proto-oncogene, serine/threonine kinase

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

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

NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463

G

cyclin-dependent kinase inhibitor 2A

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

PMID:25741868 PMID:26619011 PMID:28492532

NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149

G

erb-b2 receptor tyrosine kinase 2

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

PMID:18413839 PMID:22046346 PMID:23220880 PMID:25157968 PMID:26619011

NCBI chr10:83,411,197...83,435,078
Ensembl chr10:83,411,313...83,435,078

G

F-box and WD repeat domain containing 7

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

NCBI chr 2:170,149,706...170,311,536
Ensembl chr 2:170,149,694...170,309,941

G

fibroblast growth factor receptor 3

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

PMID:8589699 PMID:8845844 PMID:9438390 PMID:9843049 PMID:10471491 More...

NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341

G

HRas proto-oncogene, GTPase

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

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

NCBI chr 1:196,290,127...196,299,823
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 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172

G

mechanistic target of rapamycin kinase

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

PMID:20190810 PMID:24631838 PMID:25741868 PMID:26018084 PMID:26619011 More...

NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311

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 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630

G

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

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

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

NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032

G

Ras homolog, mTORC1 binding

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

NCBI chr 4:10,278,970...10,320,160
Ensembl chr 4:10,279,370...10,320,160

G

tumor protein p53

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

PMID:1565143 PMID:7718482 PMID:7887414 PMID:8023157 PMID:8118819 More...

NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524

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 3:92,162,271...92,385,251
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 3:92,128,772...92,157,022
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 3:91,566,540...91,613,653
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: Wilms tumor 5

PMID:11284034 PMID:15459955

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

ClinVar Annotator: match by term: Wilms tumor 6

PMID:26551668 PMID:28492532

NCBI chr14:30,859,109...30,879,828
Ensembl chr14:30,862,553...30,894,354

Term paths to the root

Path 1
Term	Annotations
disease	19055
disease of cellular proliferation	7788
cancer	5631
organ system cancer	5390
urinary system cancer	684
kidney cancer	486
childhood kidney cancer +	8
kidney hemangiopericytoma	0
kidney sarcoma +	0
malignant cystic nephroma	0
nephroblastoma +	148
renal carcinoma +	367
Path 2
Term	Annotations
disease	19055
disease of cellular proliferation	7788
Neoplasms by Site	7240
Urogenital Neoplasms	2199
Urologic Neoplasms	738
urinary system cancer	684
kidney cancer	486
childhood kidney cancer +	8
kidney hemangiopericytoma	0
kidney sarcoma +	0
malignant cystic nephroma	0
nephroblastoma +	148
renal carcinoma +	367

paths to the root