squamous cell carcinoma - Ontology Report - Rat Genome Database

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RGD DISEASE ONTOLOGY - ANNOTATIONS

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RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:	squamous cell carcinoma	go back to main search page
Accession:	DOID:1749	browse the term
Definition:	A carcinoma that derives_from squamous epithelial cells. (DO)
Synonyms:	exact_synonym:	Epidermoid Carcinoma; Planocellular Carcinoma; Planocellular Carcinomas; Squamous Carcinoma; Squamous Carcinomas; epidermoid carcinomas; malignant squamous cell tumor; squamous cell cancer; squamous cell carcinomas; squamous cell epithelioma
	narrow_synonym:	SQUAMOUS CELL CARCINOMA, BURN SCAR-RELATED, SOMATIC; Squamous cell carcinoma of the digit; Tonsillar Squamous Cell Carcinoma
	primary_id:	MESH:D002294
	alt_id:	OMIA:001787
	xref:	EFO:0000707; EFO:1000597; GARD:1091; ICDO:8070/3; NCI:C21609; NCI:C2929; NCI:C60511
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants Sort by:
Rat (688) Mouse (652) Human (3588) Chinchilla (572) Bonobo (611) Dog (636) Squirrel (574) Pig (621) Green Monkey (606) Naked Mole-rat (560) All
Genes (642) Strains (2) Cell Lines (44)

squamous cell carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ADAM metallopeptidase domain 19

ClinVar Annotator: match by term: Squamous cell carcinoma

NCBI chr10:30,491,362...30,583,115
Ensembl chr10:30,491,405...30,583,105

G

ADAMTS-like 3

ClinVar Annotator: match by term: Squamous cell carcinoma

NCBI chr 1:136,288,793...136,596,986
Ensembl chr 1:136,288,793...136,596,986

G

actin filament associated protein 1-like 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:255,964,238...256,060,828
Ensembl chr 1:255,964,238...256,060,820

G

AKT serine/threonine kinase 1

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

PMID:21351258 PMID:27993330

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

G

annexin A1

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:15274141 PMID:8919037

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

G

annexin A2

CTD Direct Evidence: marker/mechanism

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

G

annexin A5

CTD Direct Evidence: marker/mechanism

NCBI chr 2:119,314,007...119,344,703
Ensembl chr 2:119,314,007...119,353,369

G

APC regulator of WNT signaling pathway

ClinVar Annotator: match by term: Squamous cell carcinoma

NCBI chr18:25,828,558...25,925,511
Ensembl chr18:25,864,222...25,922,696

G

aquaporin 3 (Gill blood group)

CTD Direct Evidence: marker/mechanism

NCBI chr 5:56,239,200...56,244,718
Ensembl chr 5:56,239,201...56,244,720

G

amphiregulin

CTD Direct Evidence: therapeutic

NCBI chr14:16,972,185...16,981,443
Ensembl chr14:16,972,187...16,981,535

G

ATM serine/threonine kinase

CTD Direct Evidence: marker/mechanism

NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437

G

BCL2, apoptosis regulator

disease_progression

Protein:increased expression:tongue;associated with mouth neoplasms

RGD

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

baculoviral IAP repeat-containing 5

CTD Direct Evidence: marker/mechanism

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

G

caveolin 1

RGD

NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705

G

C-C motif chemokine ligand 2

CTD Direct Evidence: marker/mechanism

NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226

G

cyclin D1

susceptibility

associated with Cervix Neoplasms;DNA:polymorphism: :870A>G
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:26432044 PMID:18548202

NCBI chr 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602

G

CD163 molecule

ClinVar Annotator: match by term: Squamous cell carcinoma

NCBI chr 4:157,085,080...157,118,470
Ensembl chr 4:157,085,093...157,117,878

G

cadherin 1

CTD Direct Evidence: marker/mechanism

NCBI chr19:34,492,371...34,561,775
Ensembl chr19:34,492,371...34,561,775

G

cyclin-dependent kinase inhibitor 1A

disease_progression

associated with Varicose Ulcer;protein:increased expression:skin:

RGD

PMID:9655223 PMID:11028856

RGD:8662356, RGD:8662856

NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585

G

cyclin-dependent kinase inhibitor 2A

DNA:transitions: :multiple
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:25125259 PMID:15057871

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

G

cyclin-dependent kinase inhibitor 2B

protein:decreased expression:skin

RGD

NCBI chr 5:104,009,839...104,019,082
Ensembl chr 5:104,010,680...104,019,050

G

CCAAT/enhancer binding protein alpha

CTD Direct Evidence: marker/mechanism

PMID:17510391 PMID:21346772

NCBI chr 1:87,759,631...87,762,303
Ensembl chr 1:87,759,433...87,762,412

G

complement factor H

mRNA:increased expression:skin

RGD

NCBI chr13:51,512,376...51,613,829
Ensembl chr13:51,511,828...51,613,838

G

cholinergic receptor nicotinic alpha 3 subunit

ClinVar Annotator: match by term: Squamous cell carcinoma

NCBI chr 8:55,401,668...55,415,165
Ensembl chr 8:55,401,702...55,415,165

G

cholinergic receptor nicotinic alpha 5 subunit

ClinVar Annotator: match by term: Squamous cell carcinoma

NCBI chr 8:55,369,794...55,398,526
Ensembl chr 8:55,369,794...55,398,146

G

claudin 1

CTD Direct Evidence: marker/mechanism

NCBI chr11:74,421,569...74,436,728
Ensembl chr11:74,421,569...74,436,724

G

clusterin

severity

RGD

NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315

G

CREB binding protein

CTD Direct Evidence: marker/mechanism

NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888

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

casein kinase 2 alpha 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:140,709,984...140,756,757
Ensembl chr 3:140,709,991...140,756,696

G

casein kinase 2 alpha 2

CTD Direct Evidence: marker/mechanism

NCBI chr19:9,556,443...9,596,080
Ensembl chr19:9,556,260...9,596,080

G

casein kinase 2 beta

CTD Direct Evidence: marker/mechanism

NCBI chr20:3,700,363...3,705,331
Ensembl chr20:3,698,733...3,707,133

G

cytotoxic T-lymphocyte-associated protein 4

susceptibility

DNA:SNP: :rs3087243(human)

RGD

NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963

G

cortactin

CTD Direct Evidence: marker/mechanism

NCBI chr 1:199,599,710...199,635,254
Ensembl chr 1:199,599,710...199,635,164

G

cytochrome P450, family 1, subfamily a, polypeptide 2

CTD Direct Evidence: marker/mechanism

NCBI chr 8:58,075,367...58,082,255
Ensembl chr 8:58,075,367...58,082,312

G

cytochrome P450, family 1, subfamily b, polypeptide 1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:15,342,312...15,350,886
Ensembl chr 6:15,342,344...15,350,917

G

discoidin domain receptor tyrosine kinase 2

ClinVar Annotator: match by term: Squamous cell carcinoma

PMID:18938156 PMID:22328973 PMID:23932362

NCBI chr13:82,193,623...82,318,229
Ensembl chr13:82,195,463...82,317,363

G

dentin sialophosphoprotein

CTD Direct Evidence: marker/mechanism

NCBI chr14:5,565,562...5,571,669
Ensembl chr14:5,565,629...5,571,672

G

dual specificity phosphatase 1

mRNA:increased expression:saliva

RGD

NCBI chr10:16,680,478...16,683,275

G

epidermal growth factor receptor

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

PMID:12942316 PMID:22042947 PMID:22948846 PMID:25157968 PMID:27993330

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

G

early growth response 1

mRNA:decreased expression:tumor (human)
ClinVar Annotator: match by term: Squamous cell carcinoma

PMID:27993330 PMID:11948124

NCBI chr18:26,462,967...26,466,766
Ensembl chr18:26,462,981...26,466,766

G

enolase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:160,719,951...160,731,337
Ensembl chr 5:160,719,951...160,731,336

G

E1A binding protein p300

CTD Direct Evidence: marker/mechanism

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

ERCC excision repair 2, TFIIH core complex helicase subunit

CTD Direct Evidence: marker/mechanism

NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102

G

ERCC excision repair 6, chromatin remodeling factor

severity

associated with Cockayne Syndrome

RGD

NCBI chr16:7,764,983...7,835,587
Ensembl chr16:7,765,013...7,835,587

G

family with sequence similarity 13, member A

ClinVar Annotator: match by term: Squamous cell carcinoma

NCBI chr 4:88,056,521...88,155,782
Ensembl chr 4:88,058,403...88,155,860

G

Fas cell surface death receptor

ClinVar Annotator: match by term: SQUAMOUS CELL CARCINOMA, BURN SCAR-RELATED, SOMATIC

NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591

G

fibroblast growth factor 7

cervical squamous cell carcinoma

RGD

NCBI chr 3:113,280,448...113,333,279
Ensembl chr 3:113,281,283...113,332,929

G

Fibroblast growth factor receptor 1

CTD Direct Evidence: marker/mechanism

PMID:22286583 PMID:27794399

NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350

G

fibroblast growth factor receptor 2

cervical squamous cell carcinoma

RGD

NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626

G

fragile histidine triad diadenosine triphosphatase

cervical squamous cell carcinoma

RGD

NCBI chr15:13,935,029...15,442,620
Ensembl chr15:13,934,995...15,442,340

G

Fms related receptor tyrosine kinase 1

ClinVar Annotator: match by term: Squamous cell carcinoma

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

G

forkhead box A1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:75,099,907...75,136,534
Ensembl chr 6:75,103,503...75,136,188

G

forkhead box P2

ClinVar Annotator: match by term: Squamous cell carcinoma

NCBI chr 4:43,133,827...43,712,442
Ensembl chr 4:43,133,912...43,711,683

G

glyceraldehyde-3-phosphate dehydrogenase

CTD Direct Evidence: marker/mechanism

NCBI chr 4:157,962,312...157,967,158
Ensembl chr 4:157,962,343...157,966,235

G

glutathione peroxidase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024

G

glycine rich extracellular protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:12,727,164...12,748,629
Ensembl chr10:12,727,166...12,741,819

G

glutathione S-transferase mu 1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411

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

hydroxycarboxylic acid receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr12:32,726,252...32,728,238
Ensembl chr12:32,726,184...32,728,504

G

histone deacetylase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:141,853,992...141,881,057
Ensembl chr 5:141,853,989...141,881,111

G

histone deacetylase 2

CTD Direct Evidence: marker/mechanism

NCBI chr20:40,548,244...40,571,609
Ensembl chr20:40,548,250...40,571,609

G

hepatocyte growth factor

CTD Direct Evidence: therapeutic

NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409

G

HRas proto-oncogene, GTPase

associated with Xeroderma Pigmentosum;missense mutations:cds:pG12V, pQ61H (human)
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:24224046 PMID:25125259 PMID:8453633

NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615

G

heat shock protein family A (Hsp70) member 8

CTD Direct Evidence: marker/mechanism

NCBI chr 8:41,183,397...41,187,260
Ensembl chr 8:41,183,264...41,187,259

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

5-hydroxytryptamine receptor 4

ClinVar Annotator: match by term: Squamous cell carcinoma

NCBI chr18:55,765,981...55,949,921
Ensembl chr18:55,766,725...55,949,321

G

interleukin 2

treatment

RGD

NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566

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

inhibitor of growth family, member 1

squamous cell carcinoma of the head and neck, OMIM:275355

RGD

NCBI chr16:77,937,276...77,945,320
Ensembl chr16:77,937,279...77,946,264

G

inositol polyphosphate-5-phosphatase A

CTD Direct Evidence: marker/mechanism

NCBI chr 1:194,190,086...194,380,429
Ensembl chr 1:194,190,393...194,380,428

G

interleukin-1 receptor-associated kinase 1

disease_progression

RGD

NCBI chr X:151,768,621...151,778,521
Ensembl chr X:151,768,777...151,778,521

G

integrin subunit alpha 5

CTD Direct Evidence: marker/mechanism

NCBI chr 7:134,478,963...134,502,837
Ensembl chr 7:134,478,968...134,502,837

G

integrin subunit beta 1

CTD Direct Evidence: marker/mechanism

NCBI chr19:56,705,123...56,753,199
Ensembl chr19:56,705,171...56,753,195

G

involucrin

CTD Direct Evidence: marker/mechanism

NCBI chr 2:178,146,694...178,160,807
Ensembl chr 2:178,147,061...178,149,100

G

kinase insert domain receptor

RGD

NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018

G

KIT ligand

Squamous cell carcinoma of the digit

PMID:1399782 PMID:2800263 PMID:6354679 PMID:6731733 PMID:7657570 More...

NCBI chr 7:34,896,075...34,977,215
Ensembl chr 7:34,896,053...34,977,214

G

KLF transcription factor 5

CTD Direct Evidence: marker/mechanism

NCBI chr15:76,060,320...76,079,445
Ensembl chr15:76,064,258...76,079,445

G

lysine methyltransferase 2C

severity

DNA:mutations:multiple (human)

RGD

NCBI chr 4:9,620,638...9,834,787
Ensembl chr 4:9,609,627...9,833,539

G

kinetochore-localized astrin/SPAG5 binding protein

CTD Direct Evidence: marker/mechanism

NCBI chr 3:105,800,762...105,820,555
Ensembl chr 3:105,800,954...105,820,715

G

KRAS proto-oncogene, GTPase

CTD Direct Evidence: marker/mechanism

PMID:19435901 PMID:25125259

NCBI chr 4:178,185,418...178,218,484

G

keratin 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:132,976,618...132,981,844
Ensembl chr 7:132,976,620...132,981,844

G

keratin 10

CTD Direct Evidence: marker/mechanism

NCBI chr10:84,338,695...84,343,279
Ensembl chr10:84,338,706...84,343,701

G

keratin 14

CTD Direct Evidence: marker/mechanism

NCBI chr10:85,137,786...85,142,054
Ensembl chr10:85,066,802...85,171,799

G

galectin 7

CTD Direct Evidence: marker/mechanism

NCBI chr 1:84,148,612...84,152,016
Ensembl chr 1:84,150,252...84,152,015

G

leucine-rich repeat-containing G protein-coupled receptor 6

CTD Direct Evidence: marker/mechanism

NCBI chr13:46,424,382...46,544,074
Ensembl chr13:46,424,383...46,543,945

G

loricrin cornified envelope precursor protein

CTD Direct Evidence: marker/mechanism

NCBI chr 2:177,558,062...177,560,960
Ensembl chr 2:177,558,252...177,559,807

G

leukotriene A4 hydrolase

protein:increased expression:tongue, carcinoma, stroma (rat)

RGD

NCBI chr 7:27,969,796...28,001,600
Ensembl chr 7:27,969,789...28,001,600

G

leucine zipper tumor suppressor 1

esophageal squamous cell carcinoma, OMIM:133239

RGD

NCBI chr16:20,542,756...20,598,204
Ensembl chr16:20,542,809...20,598,203

G

mal, T-cell differentiation protein

CTD Direct Evidence: marker/mechanism

NCBI chr 3:114,864,378...114,888,136
Ensembl chr 3:114,864,378...114,888,136

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 1

CTD Direct Evidence: marker/mechanism

NCBI chr11:83,957,813...84,023,629
Ensembl chr11:83,957,813...84,023,616

G

mitogen activated protein kinase 3

CTD Direct Evidence: marker/mechanism

NCBI chr 1:181,366,646...181,372,863
Ensembl chr 1:181,366,637...181,372,863

G

MET proto-oncogene, receptor tyrosine kinase

CTD Direct Evidence: marker/mechanism

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

G

microRNA 205

CTD Direct Evidence: marker/mechanism

NCBI chr13:105,035,878...105,035,985
Ensembl chr13:105,035,878...105,035,985

G

mutL homolog 1

ClinVar Annotator: match by term: Squamous cell carcinoma

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

G

matrix metallopeptidase 2

protein:increased expression:nasal mucosa

RGD

NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870

G

matrix metallopeptidase 9

protein:increased expression:middle ear
CTD Direct Evidence: marker/mechanism
protein:increased expression:nasal mucosa
mRNA:increased expression:tongue

CTD
RGD

PMID:18572023 PMID:22178867 PMID:21624249 PMID:18254958 PMID:11081634

RGD:8547836, RGD:8657057, RGD:8547895, RGD:8547854

NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120

G

mitochondrial ribosomal protein L13

CTD Direct Evidence: marker/mechanism

NCBI chr 7:86,951,541...86,973,147
Ensembl chr 7:86,951,541...86,973,577

G

membrane spanning 4-domains A1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:207,906,370...207,927,028
Ensembl chr 1:207,906,374...207,918,512

G

metallothionein 1

CTD Direct Evidence: marker/mechanism

PMID:16543248 PMID:17418620

NCBI chr19:10,826,032...10,827,048
Ensembl chr19:10,826,032...10,827,049
Ensembl chr17:10,826,032...10,827,049

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

mucin 5AC, oligomeric mucus/gel-forming

ClinVar Annotator: match by term: Squamous cell carcinoma

NCBI chr 1:196,864,336...196,896,475
Ensembl chr 1:196,864,336...196,896,475

G

MYC proto-oncogene, bHLH transcription factor

CTD Direct Evidence: marker/mechanism

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

G

nuclear receptor coactivator 3

CTD Direct Evidence: marker/mechanism

NCBI chr 3:154,738,566...154,821,395
Ensembl chr 3:154,738,581...154,818,594

G

NFE2 like bZIP transcription factor 2

CTD Direct Evidence: marker/mechanism

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

G

NK2 homeobox 1

ClinVar Annotator: match by term: Squamous cell carcinoma

NCBI chr 6:73,996,601...74,001,483
Ensembl chr 6:73,996,601...73,999,791

G

NLR family, pyrin domain containing 3

ClinVar Annotator: match by term: Squamous cell carcinoma

NCBI chr10:44,326,770...44,353,814
Ensembl chr10:44,328,566...44,352,811

G

NME/NM23 nucleoside diphosphate kinase 1

severity

protein:decreased expression:tumor (human)

RGD

NCBI chr10:78,907,036...78,929,659
Ensembl chr10:78,906,083...78,916,408

G

notch receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531

G

notch receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 2:185,610,594...185,744,088
Ensembl chr 2:185,610,589...185,744,088

G

notch receptor 3

CTD Direct Evidence: marker/mechanism

NCBI chr 7:11,132,984...11,184,025
Ensembl chr 7:11,133,706...11,184,025

G

notch receptor 4

CTD Direct Evidence: marker/mechanism

NCBI chr20:4,160,362...4,184,466
Ensembl chr20:4,160,445...4,184,465

G

OCA2 melanosomal transmembrane protein

susceptibility

DNA:missense mutation:cds:p.A481T (rs74653330) (human)

RGD

NCBI chr 1:107,116,278...107,446,093
Ensembl chr 1:107,116,278...107,446,074

G

8-oxoguanine DNA glycosylase

RGD

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

G

phosphoglycerate mutase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:240,723,832...240,731,443
Ensembl chr 1:240,723,920...240,738,452

G

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

CTD Direct Evidence: marker/mechanism

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

G

plasminogen activator, urokinase

severity

mRNA:increased expression:oral cavity (human)

RGD

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

G

peptidylprolyl isomerase A

CTD Direct Evidence: marker/mechanism

NCBI chr14:81,279,292...81,282,960
Ensembl chr14:81,275,091...81,299,601

G

protein kinase, DNA-activated, catalytic subunit

CTD Direct Evidence: marker/mechanism

NCBI chr11:85,040,790...85,258,357
Ensembl chr11:85,040,792...85,257,952

G

phosphoribosyl transferase domain containing 1

CTD Direct Evidence: marker/mechanism

NCBI chr17:83,549,608...83,654,517
Ensembl chr17:83,548,803...83,655,179

G

phosphatase and tensin homolog

ClinVar Annotator: match by term: Squamous cell carcinoma

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

G

prostaglandin E receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr19:24,470,258...24,473,687
Ensembl chr19:24,467,532...24,473,559

G

prostaglandin-endoperoxide synthase 2

CTD Direct Evidence: marker/mechanism

PMID:16543248 PMID:18202791

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

G

protein tyrosine kinase 2

CTD Direct Evidence: marker/mechanism|therapeutic

PMID:21401805 PMID:25199511

NCBI chr 7:105,126,725...105,331,848
Ensembl chr 7:105,126,728...105,331,783

G

protein tyrosine phosphatase, non-receptor type 11

CTD Direct Evidence: marker/mechanism

NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925

G

PYD and CARD domain containing

CTD Direct Evidence: marker/mechanism

NCBI chr 1:182,601,657...182,603,013
Ensembl chr 1:182,601,174...182,602,955

G

receptor for activated C kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:33,169,415...33,174,896
Ensembl chr10:33,169,169...33,174,975

G

RAD52 homolog, DNA repair protein

CTD Direct Evidence: marker/mechanism

NCBI chr 4:153,106,062...153,128,598
Ensembl chr 4:153,106,062...153,128,207

G

retinoic acid receptor, beta

CTD Direct Evidence: marker/mechanism

NCBI chr15:8,700,533...9,051,288
Ensembl chr15:8,406,492...9,051,288

G

RAS p21 protein activator 1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:15,857,704...15,940,757
Ensembl chr 2:15,857,980...15,940,854

G

RB transcriptional corepressor 1

ClinVar Annotator: match by term: Squamous cell carcinoma

NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302

G

Ras and Rab interactor 3

ClinVar Annotator: match by term: Squamous cell carcinoma

NCBI chr 6:121,431,776...121,540,956
Ensembl chr 6:121,431,339...121,540,957

G

receptor interacting serine/threonine kinase 1

RGD

NCBI chr17:30,839,639...30,871,824
Ensembl chr17:30,839,650...30,871,824

G

ring finger protein 168

CTD Direct Evidence: marker/mechanism

NCBI chr11:68,486,313...68,508,296
Ensembl chr11:68,486,321...68,508,277

G

ring finger protein 6

RGD

NCBI chr12:8,816,797...8,826,870
Ensembl chr12:8,816,833...8,826,847

G

ROS proto-oncogene 1 , receptor tyrosine kinase

ClinVar Annotator: match by term: Squamous cell carcinoma

NCBI chr20:31,432,636...31,583,998
Ensembl chr20:31,432,637...31,583,865

G

retinoid isomerohydrolase RPE65

mRNA:decreased expression:skin (human)

RGD

NCBI chr 2:248,766,497...248,798,403
Ensembl chr 2:248,766,612...248,798,403

G

SEM1 26S proteasome subunit

CTD Direct Evidence: marker/mechanism

NCBI chr 4:34,671,848...34,692,005
Ensembl chr 4:34,671,848...34,692,005

G

serpin family A member 1

ClinVar Annotator: match by term: Squamous cell carcinoma

NCBI chr 6:122,866,314...122,888,339
Ensembl chr 6:122,866,312...122,888,339

G

serpin family B member 3

CTD Direct Evidence: marker/mechanism

NCBI chr13:23,274,120...23,280,660
Ensembl chr13:23,274,484...23,313,682

G

stratifin

CTD Direct Evidence: marker/mechanism

NCBI chr 5:145,826,722...145,827,994
Ensembl chr 5:145,826,201...145,831,314

G

sirtuin 3

CTD Direct Evidence: marker/mechanism

NCBI chr 1:195,942,066...195,964,472
Ensembl chr 1:195,942,073...195,964,808

G

solute carrier family 45, member 2

CTD Direct Evidence: marker/mechanism

NCBI chr 2:59,963,599...59,996,408
Ensembl chr 2:59,963,706...59,996,317

G

SMAD specific E3 ubiquitin protein ligase 2

esophageal

RGD

NCBI chr10:91,761,798...91,862,485
Ensembl chr10:91,761,807...91,862,488

G

superoxide dismutase 2

CTD Direct Evidence: marker/mechanism|therapeutic

PMID:12543247 PMID:15274141

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

G

SRY-box transcription factor 2

protein:increased expression:mammalian vulva, epithelium
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:19801978 PMID:23518916

NCBI chr 2:117,536,929...117,539,340
Ensembl chr 2:117,536,929...117,539,338

G

small proline-rich protein 1A

CTD Direct Evidence: marker/mechanism

NCBI chr 2:178,055,096...178,057,012
Ensembl chr 2:178,055,096...178,057,063

G

signal transducer and activator of transcription 3

disease_progression

protein:increased phosphorylation:skin
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:17566705 PMID:26432044 PMID:16043897

NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057

G

serine/threonine kinase 11

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

PMID:17676035 PMID:27993330

NCBI chr 7:9,574,553...9,591,315
Ensembl chr 7:9,575,269...9,591,315

G

telomerase RNA component

CTD Direct Evidence: therapeutic

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

G

telomeric repeat binding factor 1

RGD

NCBI chr 5:3,443,103...3,472,377
Ensembl chr 5:3,443,106...3,472,340

G

tet methylcytosine dioxygenase 2

ClinVar Annotator: match by term: Squamous cell carcinoma

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

G

transforming growth factor, beta 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847

G

TIAM Rac1 associated GEF 1

CTD Direct Evidence: marker/mechanism

NCBI chr11:29,031,347...29,380,153
Ensembl chr11:29,031,348...29,159,901

G

toll-like receptor 4

ClinVar Annotator: match by term: Squamous cell carcinoma

NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628

G

toll-like receptor 9

invasive squamous cell carcinoma of the cervix

RGD

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

G

TNF receptor superfamily member 1A

RGD

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

G

tumor protein p53

ClinVar Annotator: match by term: Epidermoid carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma
CTD Direct Evidence: marker/mechanism
protein:increased expression:oral mucosa:
DNA:polymorphism,mutations:cds:

ClinVar
CTD
RGD

PMID:1672732 PMID:9472631 PMID:9572492 PMID:10557074 PMID:10713666 More...

RGD:8547790, RGD:8547855, RGD:8547832, RGD:8547794

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

G

tumor protein p63

CTD Direct Evidence: marker/mechanism

NCBI chr11:74,838,858...75,049,764
Ensembl chr11:74,838,859...75,049,398

G

triosephosphate isomerase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:157,615,283...157,618,813
Ensembl chr 4:157,615,386...157,619,541

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

CTD Direct Evidence: marker/mechanism

NCBI chr10:13,621,135...13,655,773
Ensembl chr10:13,621,136...13,655,951

G

thymidylate synthetase

CTD Direct Evidence: marker/mechanism

NCBI chr 9:113,313,454...113,329,551
Ensembl chr 9:113,313,452...113,329,536

G

ubiquitin-like modifier activating enzyme 1

CTD Direct Evidence: marker/mechanism

NCBI chr X:1,508,700...1,530,677
Ensembl chr X:1,508,666...1,530,636

G

ubiquitin-like modifier activating enzyme 7

CTD Direct Evidence: marker/mechanism

NCBI chr 8:108,665,289...108,674,097
Ensembl chr 8:108,665,292...108,674,099

G

uridine monophosphate synthetase

CTD Direct Evidence: marker/mechanism

NCBI chr11:66,806,107...66,816,520
Ensembl chr11:66,806,045...66,821,903

G

voltage-dependent anion channel 2

CTD Direct Evidence: marker/mechanism

NCBI chr15:2,462,877...2,476,802
Ensembl chr15:2,463,056...2,476,553

G

vitamin D receptor

DNA:SNPs, haplotype: :rs731236, rs7975232 (human)
DNA:SNP: :rs1544410 (human)

RGD

PMID:22213323 PMID:16950800

RGD:8158063, RGD:8158080

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

G

vascular endothelial growth factor A

CTD Direct Evidence: marker/mechanism

PMID:15956251 PMID:26432044

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

G

WW domain-containing oxidoreductase

esophageal squamous cell carcinoma, OMIM:133239
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:17575124 PMID:11956080

NCBI chr19:42,432,141...43,360,278
Ensembl chr19:42,432,152...43,359,391

G

XPC complex subunit, DNA damage recognition and repair factor

CTD Direct Evidence: marker/mechanism

NCBI chr 4:123,993,670...124,020,922
Ensembl chr 4:123,993,666...124,021,010

G

X-ray repair cross complementing 5

protein:increased expression:epidermal cell, squamous cell of epidermis (human)

RGD

NCBI chr 9:73,955,216...74,044,020
Ensembl chr 9:73,955,216...74,044,018

G

X-ray repair cross complementing 6

protein:increased expression:epidermal cell, squamous cell of epidermis (human)

RGD

NCBI chr 7:113,542,992...113,563,762
Ensembl chr 7:113,543,057...113,563,762

adenoid squamous cell carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

HNF1 homeobox A

RGD

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

adenosquamous gallbladder carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

discoidin domain receptor tyrosine kinase 2

disease_progression

RGD

NCBI chr13:82,193,623...82,318,229
Ensembl chr13:82,195,463...82,317,363

G

interferon induced transmembrane protein 1

disease_progression

RGD

NCBI chr 1:196,067,163...196,069,169
Ensembl chr 1:196,067,963...196,069,169

adenosquamous lung carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

transthyretin

protein:increased expression:lung (human)

NCBI chr18:11,941,791...11,951,008
Ensembl chr18:11,943,789...11,951,008

basaloid squamous cell carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

patched 1

DNA:missense mutations, nonsense mutations

RGD

NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333

bladder squamous cell carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

phosphatase and tensin homolog

disease_progression

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

RGD

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

Bowen's Disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cyclin D1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602

G

cyclin E1

associated with Vulvar Neoplasms;mRNA:increased expression:vulva

RGD

NCBI chr 1:90,781,947...90,791,188
Ensembl chr 1:90,781,949...90,791,101

G

cyclin-dependent kinase inhibitor 1A

protein:increased expression:skin:

RGD

NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585

G

nuclear respiratory factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:58,664,932...58,772,328
Ensembl chr 4:58,664,957...58,825,328

G

PPARG coactivator 1 alpha

CTD Direct Evidence: marker/mechanism

NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656

G

transcription factor A, mitochondrial

CTD Direct Evidence: marker/mechanism

NCBI chr20:17,356,243...17,368,293
Ensembl chr20:17,356,197...17,368,292

Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, and Keratoderma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

SAM and SH3 domain containing 1

ClinVar Annotator: match by term: Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma

PMID:25315659 PMID:25741868

NCBI chr 1:3,119,915...3,418,536
Ensembl chr 1:3,121,332...3,439,870

cervical squamous cell carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adenosine deaminase, RNA-specific

disease_progression

protein:increased expression:cervix squamous epithelium (human)

RGD

NCBI chr 2:175,138,391...175,178,280
Ensembl chr 2:175,138,403...175,178,282

G

BCL2 associated X, apoptosis regulator

protein:increased expression:uterine cervix

RGD

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

G

baculoviral IAP repeat-containing 2

disease_progression

DNA, protein:amplification, increased expression:uterine cervix, nucleus

RGD

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

G

BRCA1 interacting helicase 1

severity

mRNA, protein:increased expression:uterine cervix, nucleus (human)

RGD

NCBI chr10:70,907,266...71,031,502
Ensembl chr10:70,907,371...71,030,324

G

C-C motif chemokine ligand 22

severity

RGD

NCBI chr19:10,257,602...10,264,373
Ensembl chr19:10,257,601...10,264,400

G

C-C motif chemokine receptor 4

severity

RGD

NCBI chr 8:114,176,291...114,182,033
Ensembl chr 8:114,176,974...114,178,056

G

Cd82 molecule

protein:decreased expression:uterine cervix

RGD

NCBI chr 3:79,387,361...79,431,847
Ensembl chr 3:79,385,887...79,431,809

G

colony stimulating factor 1 receptor

protein:increased expression:uterine cervix

RGD

NCBI chr18:54,546,673...54,590,418
Ensembl chr18:54,546,659...54,590,415

G

fibroblast growth factor 7

cervical squamous cell carcinoma

RGD

NCBI chr 3:113,280,448...113,333,279
Ensembl chr 3:113,281,283...113,332,929

G

fibroblast growth factor receptor 3

no_association

DNA:missense mutation:cds: p.S249G (human)

RGD

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

G

Fos proto-oncogene, AP-1 transcription factor subunit

disease_progression

protein:increased expression:uterine cervix

RGD

NCBI chr 6:105,121,170...105,124,036
Ensembl chr 6:105,121,170...105,124,036

G

FOS like 1, AP-1 transcription factor subunit

protein:decreased expression:uterine cervix

RGD

NCBI chr 1:202,754,549...202,763,057
Ensembl chr 1:202,754,529...202,764,930

G

forkhead box P3

severity

RGD

NCBI chr X:14,908,494...14,924,994
Ensembl chr X:14,908,494...14,923,838

G

microRNA 21

RNA:increased expression:cervical cell

RGD

NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348

G

microRNA 31

RNA:increased expression:blood serum (human)

RGD

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

G

podoplanin

disease_progression

RGD

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

G

SMAD family member 3

severity

RGD

NCBI chr 8:64,126,829...64,236,960
Ensembl chr 8:64,110,039...64,236,960

G

TIMP metallopeptidase inhibitor 2

protein:decreased expression:uterine cervix

RGD

NCBI chr10:103,541,199...103,590,611
Ensembl chr10:103,531,505...103,590,611

G

transmembrane BAX inhibitor motif containing 6

disease_progression

mRNA:increased expression:uterine cervix

RGD

NCBI chr 7:130,527,313...130,542,567
Ensembl chr 7:130,527,316...130,543,633

G

TNF receptor superfamily member 4

severity

RGD

NCBI chr 5:166,606,909...166,609,599
Ensembl chr 5:166,606,909...166,609,599

G

TNF superfamily member 4

severity

RGD

NCBI chr13:73,723,329...73,746,809
Ensembl chr13:73,723,329...73,746,788

G

tumor protein p53

disease_progression

RGD

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

G

thymidine phosphorylase

disease_progression

RGD

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

conjunctival squamous cell carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ADAM metallopeptidase domain 3A

DNA, mRNA:amplification, increase expression

RGD

NCBI chr16:67,299,949...67,349,970
Ensembl chr16:67,299,949...67,349,968

esophagus squamous cell carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily C member 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:242,664,657...242,723,239
Ensembl chr 1:242,664,657...242,723,238

G

adenylate cyclase activating polypeptide 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:113,102,632...113,122,500
Ensembl chr 9:113,103,718...113,109,773

G

ajuba LIM protein

CTD Direct Evidence: marker/mechanism

NCBI chr15:28,019,775...28,031,537
Ensembl chr15:28,019,778...28,030,021

G

AKT serine/threonine kinase 1

disease_progression

protein:increased expression:esophagus (human)

RGD

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

G

aldehyde dehydrogenase 2 family member

CTD Direct Evidence: marker/mechanism

PMID:16639733 PMID:22960999

NCBI chr12:34,949,549...34,982,527
Ensembl chr12:34,901,219...34,982,521

G

annexin A1

CTD Direct Evidence: marker/mechanism

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

G

ATM serine/threonine kinase

disease_progression

Smoke Inhalation Injury; mRNA:increased expression:esophagus (human)

RGD

NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437

G

ATPase Na+/K+ transporting subunit beta 2

CTD Direct Evidence: marker/mechanism

NCBI chr10:54,318,698...54,324,933
Ensembl chr10:54,318,701...54,324,933

G

axin 1

disease_progression

protein:decreased expression:esophagus (human)

RGD

NCBI chr10:15,163,477...15,215,615
Ensembl chr10:15,163,684...15,215,615

G

alpha-2-glycoprotein 1, zinc-binding

disease_progression

RGD

NCBI chr12:16,930,990...16,939,333
Ensembl chr12:16,931,024...16,939,091

G

antizyme inhibitor 1

RGD

NCBI chr 7:69,654,773...69,681,578
Ensembl chr 7:69,654,663...69,681,578

G

beta-2 microglobulin

CTD Direct Evidence: marker/mechanism

NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766

G

biliverdin reductase B

CTD Direct Evidence: marker/mechanism

NCBI chr 1:82,738,646...82,756,312
Ensembl chr 1:82,738,695...82,770,375

G

BMI1 proto-oncogene, polycomb ring finger

RGD

NCBI chr17:81,332,175...81,341,625
Ensembl chr17:81,332,214...81,388,690

G

bone morphogenetic protein 6

protein:increased expression:esophagus

RGD

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

G

BRCA1, DNA repair associated

DNA:SNP: :rs799917 (human)

RGD

NCBI chr10:86,417,441...86,477,762
Ensembl chr10:86,418,000...86,477,304

G

BRCA2, DNA repair associated

DNA:nonsense mutation: :p.K3326X (human)

RGD

NCBI chr12:59,492...103,789
Ensembl chr12:59,819...100,567

G

bone marrow stromal cell antigen 2

disease_progression

RGD

NCBI chr16:18,216,605...18,220,979
Ensembl chr16:18,217,407...18,220,979

G

BUB1 mitotic checkpoint serine/threonine kinase B

CTD Direct Evidence: marker/mechanism

NCBI chr 3:105,563,089...105,615,547
Ensembl chr 3:105,563,138...105,615,547

G

calreticulin

ameliorates

CTD Direct Evidence: marker/mechanism
human cells in a mouse model

CTD
RGD

PMID:21517111 PMID:19684620 PMID:23814025

RGD:150521703, RGD:150521679

NCBI chr19:23,308,525...23,313,420
Ensembl chr19:23,308,351...23,313,414

G

capping actin protein of muscle Z-line subunit alpha 1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:192,319,696...192,364,755
Ensembl chr 2:192,319,702...192,364,480

G

carbonic anhydrase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:86,829,436...86,872,209
Ensembl chr 2:86,861,897...86,872,208

G

carbonic anhydrase 12

severity

RGD

NCBI chr 8:67,274,739...67,330,428
Ensembl chr 8:67,274,359...67,330,440

G

carbonic anhydrase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 2:86,741,625...86,756,766
Ensembl chr 2:86,741,626...86,756,818

G

caspase 8

exacerbates

mRNA,protein:decreased expression:esophagus squamous epithelium (human)

RGD

NCBI chr 9:60,263,863...60,312,542
Ensembl chr 9:60,264,075...60,312,542

G

chromobox 8

severity

mRNA:increased expression:esophagus:

RGD

NCBI chr10:104,294,518...104,296,956
Ensembl chr10:104,294,518...104,297,024

G

coiled-coil alpha-helical rod protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr20:3,205,675...3,218,437
Ensembl chr20:3,205,676...3,218,308

G

cyclin D1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602

G

cyclin-dependent kinase inhibitor 1A

CTD Direct Evidence: therapeutic

NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585

G

cyclin-dependent kinase inhibitor 2A

CTD Direct Evidence: marker/mechanism

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

G

cyclin-dependent kinase inhibitor 2B

DNA:SNPs: :rs615552, rs573687 (human)

RGD

NCBI chr 5:104,009,839...104,019,082
Ensembl chr 5:104,010,680...104,019,050

G

cofilin 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:202,796,012...202,801,337
Ensembl chr 1:202,786,627...202,817,587

G

cholinergic receptor nicotinic alpha 5 subunit

susceptibility

DNA:SNP: :rs667282(human)
mRNA:increased expression:esophagus (human)

RGD

PMID:23844051 PMID:27610024

RGD:150524358, RGD:151361143

NCBI chr 8:55,369,794...55,398,526
Ensembl chr 8:55,369,794...55,398,146

G

cholinergic receptor nicotinic alpha 7 subunit

exacerbates
disease_progression

mRNA:increased expression:esophagus (human)

RGD

PMID:27610024 PMID:33603170 PMID:33603170

RGD:151361143, RGD:151667905, RGD:151667905

NCBI chr 1:116,711,559...116,837,269
Ensembl chr 1:116,714,711...116,837,240

G

cholinergic receptor nicotinic beta 4 subunit

mRNA:increased expression:esophagus (human)

RGD

NCBI chr 8:55,417,583...55,437,027
Ensembl chr 8:55,418,313...55,437,027

G

chloride intracellular channel 1

CTD Direct Evidence: marker/mechanism

NCBI chr20:3,764,867...3,773,711
Ensembl chr20:3,761,461...3,773,712

G

CLPTM1-like

susceptibility
no_association

DNA:SNP: :rs451360(human)
DNA:SNP: :rs401681(human)
mRNA:increased expression:esophagus

RGD

PMID:26716642 PMID:24386361 PMID:25480402 PMID:25007268

RGD:11572962, RGD:150537098, RGD:150530497, RGD:150530488

NCBI chr 1:29,667,545...29,683,530
Ensembl chr 1:29,667,545...29,683,530

G

collagen type XIV alpha 1 chain

disease_progression

DNA:hypermethylation

RGD

NCBI chr 7:86,722,093...86,937,215
Ensembl chr 7:86,722,094...86,937,214

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

CREB binding protein

CTD Direct Evidence: marker/mechanism

NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888

G

colony stimulating factor 1 receptor

mRNA:decreased expression:esophagus squamous epithelium (human)

NCBI chr18:54,546,673...54,590,418
Ensembl chr18:54,546,659...54,590,415

G

cystatin B

CTD Direct Evidence: marker/mechanism

NCBI chr20:10,245,462...10,247,505
Ensembl chr20:10,245,462...10,247,526

G

catenin beta 1

ClinVar Annotator: match by term: Esophageal squamous cell carcinoma

PMID:25157968 PMID:25741868 PMID:26619011

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 4

disease_progression

protein:increased expression:esophagus squamous epithelium (human)

RGD

NCBI chr13:40,077,976...40,081,883
Ensembl chr13:40,077,976...40,081,883

G

cytochrome P450, family 1, subfamily a, polypeptide 1

RGD

NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125

G

cytochrome P450, family 1, subfamily b, polypeptide 1

protein:increased expression:esophagus (rat)

RGD

NCBI chr 6:15,342,312...15,350,886
Ensembl chr 6:15,342,344...15,350,917

G

cytochrome P450, family 24, subfamily a, polypeptide 1

susceptibility

DNA:SNP:CDS: (rs2296241) (human)

RGD

NCBI chr 3:159,275,947...159,290,383
Ensembl chr 3:159,275,947...159,290,383

G

cytochrome P450, family 26, subfamily b, polypeptide 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:117,041,808...117,058,628
Ensembl chr 4:117,041,808...117,058,628

G

DAB2 interacting protein

severity

protein:decreased expression:esophagus (human)

RGD

NCBI chr 3:18,915,290...19,086,282
Ensembl chr 3:18,915,290...19,086,280

G

DCC netrin 1 receptor

DNA:deletions:multiple (human)

OMIM
RGD

NCBI chr18:64,868,987...65,972,783
Ensembl chr18:64,873,898...65,972,740

G

death inducer-obliterator 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:167,772,535...167,825,894
Ensembl chr 3:167,772,770...167,817,218

G

DNA methyltransferase 3 beta

disease_progression

protein:increased expression:nucleus:

RGD

NCBI chr 3:142,130,588...142,169,128
Ensembl chr 3:142,130,592...142,169,124

G

dipeptidylpeptidase 4

protein:increased expression: esophagus

RGD

NCBI chr 3:46,962,233...47,043,870
Ensembl chr 3:46,962,243...47,043,901

G

ephrin B2

severity
exacerbates
ameliorates

mRNA:increased expression:esophagus squamous epithelium (human)
mRNA,protein:increased expression:esophagus squamous epithelium (human)
human cells in mouse model

RGD

PMID:17611172 PMID:31885720 PMID:29190834

RGD:153300947, RGD:153300949, RGD:153300948

NCBI chr16:80,783,389...80,827,420
Ensembl chr16:80,783,417...80,824,391

G

epidermal growth factor receptor

severity

protein:increased expression:esophagus (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Esophageal squamous cell carcinoma

CTD
ClinVar
RGD

PMID:21947696 PMID:23485129 PMID:25157968 PMID:10385363

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

G

euchromatic histone lysine methyltransferase 1

disease_progression

protein:increased expression:esophagus:
protein:increased expression:esophagus mucosa:

RGD

PMID:24649311 PMID:24805087

RGD:9589143, RGD:9590071

NCBI chr 3:7,580,680...7,729,046
Ensembl chr 3:7,580,683...7,729,007

G

euchromatic histone lysine methyltransferase 2

disease_progression

protein:increased expression:esophagus mucosa:

RGD

NCBI chr20:3,919,623...3,936,751
Ensembl chr20:3,919,624...3,941,547

G

E1A binding protein p300

CTD Direct Evidence: marker/mechanism

PMID:17965222 PMID:25151357

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

erythrocyte membrane protein band 4.1-like 3

disease_progression

DNA:hypermethylation

RGD

NCBI chr 9:109,056,178...109,260,607
Ensembl chr 9:109,016,113...109,260,607

G

EPH receptor B4

exacerbates

mRNA,protein:increased expression:esophagus squamous epithelium (human)

RGD

NCBI chr12:19,326,411...19,351,667
Ensembl chr12:19,326,427...19,351,314

G

erb-b2 receptor tyrosine kinase 4

susceptibility
disease_progression

DNA:SNPs, haplotypes: :rs1595066 and rs16845990 (human)
protein:altered localization:nucleus

RGD

PMID:24916311 PMID:18000820

RGD:126781764, RGD:126781765

NCBI chr 9:69,523,733...70,596,743
Ensembl chr 9:69,531,481...70,596,595

G

ERCC excision repair 1, endonuclease non-catalytic subunit

treatment

RGD

NCBI chr 1:78,971,310...79,007,963
Ensembl chr 1:78,996,390...79,007,963

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

disease_progression

RGD

PMID:25613619 PMID:21165554

RGD:126781697, RGD:126781701

NCBI chr 4:76,624,399...76,687,362
Ensembl chr 4:76,624,399...76,687,362

G

FA complementation group A

DNA:missense mutation: :p.S858R (human)

RGD

NCBI chr19:51,304,126...51,362,586
Ensembl chr19:51,304,021...51,362,527

G

fibroblast activation protein, alpha

protein:increased expression: esophagus

RGD

NCBI chr 3:47,138,823...47,207,671
Ensembl chr 3:47,138,813...47,225,545

G

fatty acid synthase

CTD Direct Evidence: marker/mechanism

NCBI chr10:106,072,093...106,090,259
Ensembl chr10:106,072,091...106,090,261

G

FAT atypical cadherin 1

CTD Direct Evidence: marker/mechanism
protein:decreased expression:esophagus squamous epithelium (human)

CTD
RGD

PMID:25151357 PMID:29365412 PMID:24590895

RGD:151347646, RGD:151347630

NCBI chr16:47,177,253...47,296,261
Ensembl chr16:47,177,248...47,296,107

G

FAT atypical cadherin 2

CTD Direct Evidence: marker/mechanism

NCBI chr10:39,364,072...39,456,324
Ensembl chr10:39,364,073...39,456,216

G

FAT atypical cadherin 3

CTD Direct Evidence: marker/mechanism

NCBI chr 8:12,691,470...13,274,336
Ensembl chr 8:12,694,019...13,273,135

G

FAT atypical cadherin 4

CTD Direct Evidence: marker/mechanism

NCBI chr 2:121,927,266...122,056,700
Ensembl chr 2:121,927,942...122,056,707

G

F-box and WD repeat domain containing 7

CTD Direct Evidence: marker/mechanism

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

G

FES proto-oncogene, tyrosine kinase

exacerbates

DNA:hypermethylation: (human)

RGD

NCBI chr 1:134,337,698...134,346,934
Ensembl chr 1:134,337,698...134,346,934

G

fibroblast growth factor receptor 4

treatment

RGD

NCBI chr17:9,461,541...9,476,268
Ensembl chr17:9,461,547...9,476,242

G

FKBP prolyl isomerase 1A

CTD Direct Evidence: marker/mechanism

NCBI chr 3:140,040,359...140,060,107
Ensembl chr 3:140,040,278...140,060,743

G

forkhead box A1

onset

DNA:SNPs: :rs12894364 C>T, rs2145146 C>A (human)

RGD

PMID:27050876 PMID:29788741

RGD:151665743, RGD:151665759

NCBI chr 6:75,099,907...75,136,534
Ensembl chr 6:75,103,503...75,136,188

G

far upstream element binding protein 1

exacerbates

protein:increased expression:esophagus (human)
mRNA:increased expression:esophagus (human)

RGD

PMID:26490982 PMID:32481602

RGD:151361192, RGD:151361197

NCBI chr 2:241,159,481...241,186,591
Ensembl chr 2:241,159,512...241,186,602

G

GDP dissociation inhibitor 2

CTD Direct Evidence: marker/mechanism

NCBI chr17:66,649,616...66,676,299
Ensembl chr17:66,649,619...66,676,366

G

glyoxalase 1

CTD Direct Evidence: marker/mechanism

NCBI chr20:8,663,617...8,681,661
Ensembl chr20:8,662,801...8,681,649

G

glutathione peroxidase 3

disease_progression

DNA:hypermethylation

RGD

PMID:30018730 PMID:25050929

RGD:151665494, RGD:151665741

NCBI chr10:39,028,624...39,036,695
Ensembl chr10:39,028,570...39,037,035

G

growth factor receptor bound protein 7

exacerbates

protein:increased expression:esophagus (human)

RGD

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

G

glutathione S-transferase mu 1

no_association

RGD

PMID:11860825 PMID:17916905 PMID:25432134

RGD:14700943, RGD:14700982, RGD:14700948

NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411

G

glutathione S-transferase omega 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:246,721,089...246,731,228
Ensembl chr 1:246,721,221...246,731,468

G

glutathione S-transferase pi 1

DNA:polymorphism: :p.I105V (human)

RGD

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

G

glutathione S-transferase theta 1

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:17173682 PMID:25432134 PMID:17916905

RGD:14700948, RGD:14700982

NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585

G

H19 imprinted maternally expressed transcript

CTD Direct Evidence: marker/mechanism

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

CTD Direct Evidence: marker/mechanism

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

G

high mobility group box 1

CTD Direct Evidence: marker/mechanism

NCBI chr12:5,972,950...5,979,658
Ensembl chr12:5,901,586...5,978,565
Ensembl chr16:5,901,586...5,978,565

G

high mobility group nucleosome binding domain 5

CTD Direct Evidence: marker/mechanism

NCBI chr X:74,085,871...74,094,488
Ensembl chr X:74,085,875...74,094,441

G

homeo box B7

severity

protein:increased expression:esophageal mucosa (human)

RGD

NCBI chr10:81,252,616...81,256,034
Ensembl chr10:81,252,553...81,256,034

G

heat shock protein family A (Hsp70) member 5

CTD Direct Evidence: marker/mechanism

NCBI chr 3:18,055,507...18,059,969
Ensembl chr 3:18,055,405...18,059,891

G

HtrA serine peptidase 1

exacerbates
ameliorates

mRNA,protein:decreased expression:epithelium of esophagus (human)
human gene and cells in mouse model

RGD

PMID:23079781 PMID:23079781

RGD:152975633, RGD:152975633

NCBI chr 1:185,497,815...185,547,380
Ensembl chr 1:185,497,735...185,547,379

G

isocitrate dehydrogenase (NADP(+)) 2

severity

human cells in mouse model

RGD

NCBI chr 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025

G

Janus kinase 2

severity

protein:increased phosphorylation:esophagus squamous epithelium (human)

RGD

NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189

G

JunB proto-oncogene, AP-1 transcription factor subunit

exacerbates

protein:increased expression:esophagus (human)

RGD

PMID:30227324 PMID:19758438

RGD:151347669, RGD:151347672

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

G

lysine acetyltransferase 2B

mRNA:decreased expression:esophagus (human)

RGD

NCBI chr 9:6,562,525...6,667,064
Ensembl chr 9:6,562,288...6,667,064

G

lysine demethylase 4C

severity
susceptibility

protein:increased expression:esophageal epithelium, nucleus (human)
DNA:snp:intron:IVS8-3292G>A (rs1340513) (human)

RGD

PMID:24224128 PMID:15805246

RGD:9587746, RGD:9587752

NCBI chr 5:88,100,710...88,306,821
Ensembl chr 5:88,100,733...88,306,818

G

lysine demethylase 5B

severity

protein:increased expression:esophageal mucosa, cytoplasm (human)

RGD

NCBI chr13:46,001,589...46,073,868
Ensembl chr13:46,002,542...46,073,872

G

lysine demethylase 6A

ameliorates

CTD Direct Evidence: marker/mechanism
mRNA:increased expression:esophagus (human)
protein:increased expression:esophagus (human)

CTD
RGD

PMID:25151357 PMID:31804468 PMID:29351209

RGD:150429742, RGD:150429739

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

G

lysine methyltransferase 2C

DNA:mutations:multiple (human)
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:25151357 PMID:25151357

NCBI chr 4:9,620,638...9,834,787
Ensembl chr 4:9,609,627...9,833,539

G

lysine methyltransferase 2D

DNA:mutations:multiple (human)
mRNA:increased expression:esophagus
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:25151357 PMID:25151357 PMID:29532228

RGD:9588233, RGD:150521712

NCBI chr 7:129,980,744...130,022,088
Ensembl chr 7:129,962,887...130,020,325

G

keratin 13

CTD Direct Evidence: marker/mechanism

NCBI chr10:85,051,887...85,056,099
Ensembl chr10:85,051,889...85,056,084

G

keratin 14

CTD Direct Evidence: marker/mechanism

NCBI chr10:85,137,786...85,142,054
Ensembl chr10:85,066,802...85,171,799

G

keratin 16

RGD

NCBI chr10:85,168,357...85,171,816
Ensembl chr10:85,066,802...85,171,799

G

keratin 17

CTD Direct Evidence: marker/mechanism

NCBI chr10:85,178,673...85,183,392
Ensembl chr10:85,178,675...85,183,392

G

keratin 19

CTD Direct Evidence: marker/mechanism

NCBI chr10:85,075,835...85,080,552
Ensembl chr10:85,066,802...85,171,799

G

keratin 7

disease_progression

RGD

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

G

lysyl oxidase-like 2

CTD Direct Evidence: marker/mechanism

NCBI chr15:44,683,449...44,773,067
Ensembl chr15:44,683,880...44,773,067

G

lymphotoxin alpha

CTD Direct Evidence: marker/mechanism

NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859

G

leucine zipper tumor suppressor 1

ClinVar Annotator: match by term: Esophageal squamous cell carcinoma, somatic | ClinVar Annotator: match by term: LZTS1-related condition

PMID:10097140 PMID:25741868 PMID:26504261 PMID:28492532

NCBI chr16:20,542,756...20,598,204
Ensembl chr16:20,542,809...20,598,203

G

mitotic arrest deficient 2 like 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:95,906,692...95,918,885
Ensembl chr 4:95,906,817...95,913,470

G

mitogen-activated protein kinase kinase kinase 1

sexual_dimorphism

DNA:missense mutation, SNP:CDS, exon 14, 3'-UTR: (rs702689,rs702688) (human)

RGD

NCBI chr 2:43,348,572...43,414,706
Ensembl chr 2:43,350,098...43,414,463

G

methyl-CpG binding domain 4 DNA glycosylase

susceptibility

DNA:snp:cds:p.E346K (rs140693) (human)
DNA:snp:intron:IVS5-140A>G (rs3138355) (human)

RGD

PMID:15205355 PMID:25162968

RGD:9588976, RGD:9588980

NCBI chr 4:148,893,049...148,904,833
Ensembl chr 4:148,894,280...148,904,982

G

O-6-methylguanine-DNA methyltransferase

disease_progression

CTD Direct Evidence: marker/mechanism
DNA, protein:hypermethylation, decreased expression:promoter, esophagus

CTD
RGD

PMID:25520135 PMID:21674174

NCBI chr 1:191,710,980...191,937,760
Ensembl chr 1:191,710,930...191,937,756

G

microRNA 10a

miRNA:increased expression:esophagus squamous epithelium (human)

RGD

NCBI chr10:81,283,171...81,283,280
Ensembl chr10:81,283,171...81,283,280

G

microRNA 127

RNA:decreased expression:esophagus (human)

RGD

NCBI chr 6:128,546,215...128,546,311
Ensembl chr 6:128,546,215...128,546,311

G

microRNA 193a

exacerbates

miRNA:decreased expression:esophagus (human)

RGD

NCBI chr10:64,672,343...64,672,454
Ensembl chr10:64,672,343...64,672,454

G

microRNA 217

CTD Direct Evidence: marker/mechanism

NCBI chr14:102,531,505...102,531,609
Ensembl chr14:102,531,505...102,531,609

G

microRNA 31

ameliorates

RGD

PMID:32123074 PMID:21658006

RGD:127285381, RGD:152998938

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

G

microRNA 423

CTD Direct Evidence: marker/mechanism

NCBI chr10:61,914,142...61,914,220
Ensembl chr10:61,914,133...61,914,226

G

microRNA 494

mRNA:decreased expression:esophagus

RGD

NCBI chr 6:128,728,710...128,728,792
Ensembl chr 6:128,728,709...128,728,793

G

mutL homolog 1

disease_progression

DNA, protein:hypermethylation, decreased expression:promoter, esophagus

RGD

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

G

matrix metallopeptidase 14

protein:increased expression: esophagus

RGD

NCBI chr15:27,887,795...27,897,020
Ensembl chr15:27,887,727...27,899,864

G

matrix metallopeptidase 2

protein:increased activity: esophagus

RGD

NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870

G

matrix metallopeptidase 9

protein:increased activity: esophagus

RGD

NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120

G

mutS homolog 2

disease_progression

DNA, protein:hypermethylation, decreased expression:promoter, esophagus
DNA, protein:hypermethylation, decreased expression:esophagus

RGD

PMID:22265839 PMID:21674174 PMID:24366688

RGD:126790560, RGD:126790574, RGD:126790573

NCBI chr 6:6,813,793...6,872,960
Ensembl chr 6:6,813,795...6,872,938

G

metallothionein 1

CTD Direct Evidence: marker/mechanism

NCBI chr19:10,826,032...10,827,048
Ensembl chr19:10,826,032...10,827,049
Ensembl chr17:10,826,032...10,827,049

G

NFE2 like bZIP transcription factor 2

CTD Direct Evidence: marker/mechanism

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

G

notch receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531

G

notch receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 2:185,610,594...185,744,088
Ensembl chr 2:185,610,589...185,744,088

G

notch receptor 3

CTD Direct Evidence: marker/mechanism

NCBI chr 7:11,132,984...11,184,025
Ensembl chr 7:11,133,706...11,184,025

G

Paxip1-associated glutamate-rich protein 1

mRNA, protein:decreased expression:esophagus (human)

RGD

NCBI chr 1:181,622,698...181,625,024

G

PBX homeobox 3

RNA:increased expression:esophagus squamous epithelium (human)

RGD

NCBI chr 3:17,488,691...17,682,412
Ensembl chr 3:17,488,693...17,682,791

G

profilin 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:55,365,263...55,367,968
Ensembl chr10:55,365,262...55,527,631

G

phospholipase C, epsilon 1

CTD Direct Evidence: marker/mechanism

PMID:20729852 PMID:20729853

NCBI chr 1:236,243,445...236,552,571
Ensembl chr 1:236,244,683...236,551,438

G

peroxiredoxin 1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:130,147,258...130,162,856
Ensembl chr 5:130,147,204...130,162,856

G

proteasome 20S subunit beta 9

disease_progression

RGD

NCBI chr20:4,667,044...4,672,512
Ensembl chr20:4,666,046...4,672,512

G

proteasome activator subunit 1

CTD Direct Evidence: marker/mechanism

NCBI chr15:29,069,012...29,071,888
Ensembl chr15:29,068,729...29,071,890

G

proteasome activator subunit 2

CTD Direct Evidence: marker/mechanism

NCBI chr15:29,078,495...29,082,794
Ensembl chr15:29,078,500...29,082,946

G

patched 1

disease_progression

RGD

NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333

G

prostaglandin-endoperoxide synthase 2

CTD Direct Evidence: marker/mechanism

PMID:15756444 PMID:16543248 PMID:18197933

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

G

protein tyrosine phosphatase, receptor type, T

susceptibility

DNA:SNPs:3'utr: (rs2866943 , rs6029959 ) (human)

RGD

NCBI chr 3:150,189,343...151,288,145
Ensembl chr 3:150,194,859...151,288,124

G

RB transcriptional corepressor 1

CTD Direct Evidence: marker/mechanism

NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302

G

RPTOR independent companion of MTOR, complex 2

disease_progression
severity

human cells in mouse model
protein:increased expression:esophagus (human)

RGD

PMID:30119206 PMID:32642408 PMID:28132115

RGD:152995460, RGD:152995512, RGD:152995470

NCBI chr 2:55,811,877...55,903,893
Ensembl chr 2:55,811,322...55,901,426

G

ring finger protein 6

ClinVar Annotator: match by term: Esophageal squamous cell carcinoma, somatic

NCBI chr12:8,816,797...8,826,870
Ensembl chr12:8,816,833...8,826,847

G

RUNX family transcription factor 1

DNA:SNP: :rs2014300 (human)

RGD

NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542

G

RUNX family transcription factor 2

mRNA:increased expression:esophagus mucosa

RGD

NCBI chr 9:16,167,504...16,492,826
Ensembl chr 9:16,167,482...16,492,167

G

RUNX family transcription factor 3

disease_progression

mRNA:decreased expression:esophagus mucosa

RGD

NCBI chr 5:147,360,587...147,419,161
Ensembl chr 5:147,360,994...147,419,156

G

spalt-like transcription factor 4

CTD Direct Evidence: marker/mechanism

NCBI chr 3:157,474,067...157,491,055
Ensembl chr 3:157,474,642...157,490,822

G

serpin family B member 3

CTD Direct Evidence: marker/mechanism

NCBI chr13:23,274,120...23,280,660
Ensembl chr13:23,274,484...23,313,682

G

SET domain containing 5

disease_progression

RGD

NCBI chr 4:146,217,172...146,294,896
Ensembl chr 4:146,217,180...146,294,894

G

stratifin

CTD Direct Evidence: marker/mechanism

NCBI chr 5:145,826,722...145,827,994
Ensembl chr 5:145,826,201...145,831,314

G

solute carrier family 16 member 10

protein:increased expression:esophagus

RGD

NCBI chr20:43,454,819...43,567,839
Ensembl chr20:43,459,709...43,567,839

G

solute carrier family 1 member 5

disease_progression

protein:increased expression:esophagus

RGD

PMID:33609949 PMID:26936531

RGD:151361149, RGD:11532833

NCBI chr 1:77,456,849...77,470,952
Ensembl chr 1:77,456,694...77,470,952

G

solute carrier family 39 member 6

CTD Direct Evidence: therapeutic

NCBI chr18:15,864,874...15,885,417
Ensembl chr18:15,864,875...15,885,417

G

solute carrier family 52 member 3

CTD Direct Evidence: marker/mechanism

NCBI chr 3:140,498,924...140,515,845
Ensembl chr 3:140,509,473...140,514,096

G

solute carrier family 7 member 5

disease_progression

protein:increased expression:esophagus

RGD

PMID:31726270 PMID:26936531 PMID:33609949

RGD:151361144, RGD:11532833, RGD:151361149

NCBI chr19:49,935,220...49,963,823
Ensembl chr19:49,935,220...49,963,823

G

suppressor of cytokine signaling 1

severity
treatment

mRNA:decreased expression:esophagus

RGD

PMID:21385099 PMID:31728180 PMID:28233302

RGD:150573691, RGD:150573815, RGD:150573812

NCBI chr10:4,882,651...4,884,342
Ensembl chr10:4,882,560...4,884,383

G

superoxide dismutase 2

CTD Direct Evidence: marker/mechanism

PMID:18167182 PMID:21517111

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

G

SRY-box transcription factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 2:117,536,929...117,539,340
Ensembl chr 2:117,536,929...117,539,338

G

spen family transcriptional repressor

associated with Neoplasm Metastasis; DNA:mutations

RGD

NCBI chr 5:153,775,287...153,848,677
Ensembl chr 5:153,776,234...153,848,811

G

stromal interaction molecule 1

exacerbates

protein:increased expression:esophagus (human)

NCBI chr 1:156,656,246...156,818,777
Ensembl chr 1:156,656,013...156,818,363

G

stimulator of interferon response cGAMP interactor 1

CTD Direct Evidence: marker/mechanism

NCBI chr18:27,332,119...27,338,371
Ensembl chr18:27,332,119...27,338,335

G

sulfotransferase family 1A member 1

DNA:SNP:exon:p.R213H, 638G>A (human)

RGD

NCBI chr 1:181,272,022...181,276,750
Ensembl chr 1:181,272,023...181,275,562

G

transgelin

CTD Direct Evidence: marker/mechanism

NCBI chr 8:46,224,939...46,230,413
Ensembl chr 8:46,222,472...46,230,668

G

transporter 1, ATP binding cassette subfamily B member

protein:decreased expression:esophagus

RGD

NCBI chr20:4,656,262...4,666,634
Ensembl chr20:4,656,263...4,666,901

G

transporter 2, ATP binding cassette subfamily B member

protein:decreased expression:esophagus

RGD

NCBI chr20:4,636,347...4,650,387
Ensembl chr20:4,636,357...4,650,407

G

transcobalamin 2

CTD Direct Evidence: marker/mechanism

NCBI chr14:78,813,343...78,828,549
Ensembl chr14:78,813,343...78,828,489

G

telomerase reverse transcriptase

susceptibility
no_association

DNA:SNPs: : rs2853691,rs2736100(human)
mRNA:increased expression:esophagus squamous epithelium:
DNA:SNP: :rs2736098(human)

RGD

PMID:26716642 PMID:15112252 PMID:25007268

RGD:11572962, RGD:152977757, RGD:150530488

NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561

G

tet methylcytosine dioxygenase 2

severity

mRNA:decreased expression:esophagus squamous epithelium (human)
associated with Lymphatic Metastasis;mRNA:decreased expression:esophagus squamous epithelium (human)
DNA:mutations

RGD

PMID:26093090 PMID:27050164 PMID:26873401

RGD:11528815, RGD:150429668, RGD:150429656

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

G

tet methylcytosine dioxygenase 3

mRNA:decreased expression:esophagus squamous epithelium (human)

RGD

NCBI chr 4:115,867,412...115,964,433
Ensembl chr 4:115,871,265...115,964,193

G

transforming growth factor, beta receptor 2

NCBI chr 8:115,794,537...115,883,615
Ensembl chr 8:115,794,537...115,883,228

G

TNF alpha induced protein 3

severity

mRNA,protein:increased expression:esophagus squamous epithelium (human)

RGD

NCBI chr 1:13,709,211...13,724,291
Ensembl chr 1:13,709,206...13,725,282

G

TNF alpha induced protein 8

CTD Direct Evidence: marker/mechanism

NCBI chr18:43,183,854...43,299,512
Ensembl chr18:43,183,916...43,299,517

G

tenascin XB

CTD Direct Evidence: marker/mechanism

G

tumor protein p53

DNA:misssense mutation: :p.R72P (rs1042522) (human)
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:16543248 PMID:25151357 PMID:28789369

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

G

triosephosphate isomerase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:157,615,283...157,618,813
Ensembl chr 4:157,615,386...157,619,541

G

tropomyosin 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:67,635,479...67,662,330
Ensembl chr 8:67,635,479...67,662,802

G

tropomyosin 2

CTD Direct Evidence: marker/mechanism

NCBI chr 5:57,770,919...57,780,278
Ensembl chr 5:57,770,864...57,779,992

G

thioredoxin domain containing 17

CTD Direct Evidence: marker/mechanism

NCBI chr10:56,832,749...56,835,721

G

thymidine phosphorylase

CTD Direct Evidence: marker/mechanism

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

ubiquitin specific peptidase 8

CTD Direct Evidence: marker/mechanism

NCBI chr 3:113,962,136...114,009,683
Ensembl chr 3:113,962,164...114,009,666

G

ubiquitously transcribed tetratricopeptide repeat containing, Y-linked

DNA:mutations:multiple (human)

RGD

NCBI chr Y:942,838...1,105,313
Ensembl chr Y:924,168...1,103,422

G

VENT homeobox

CTD Direct Evidence: marker/mechanism

NCBI chr X:86,483,893...86,484,900
Ensembl chr X:86,483,893...86,484,954

G

WD repeat containing, antisense to TP53

disease_progression

RGD

NCBI chr10:54,282,092...54,299,908
Ensembl chr10:54,282,105...54,298,929

G

WW domain-containing oxidoreductase

esophageal squamous cell carcinoma, OMIM:133239
ClinVar Annotator: match by term: Esophageal squamous cell carcinoma, somatic
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD
RGD

PMID:11956080 PMID:25526675 PMID:28492532 PMID:11956080

NCBI chr19:42,432,141...43,360,278
Ensembl chr19:42,432,152...43,359,391

G

exportin 1

exacerbates

mRNA, protein:increased expression:epithelium of esophagus (human)
protein:increased expression:esophagus (human)

RGD

PMID:24898882 PMID:25148895

RGD:151667431, RGD:151667436

NCBI chr14:97,233,282...97,275,536
Ensembl chr14:97,233,270...97,275,498

G

X-ray repair cross complementing 1

no_association
susceptibility
treatment

CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds: p.R399Q (human)
DNA:SNPs,haplotypes:multiple (human)
DNA:SNPs:exon 6, exon 9, exon 10:multiple (human)

CTD
RGD

PMID:16639733 PMID:11400117 PMID:25710005 PMID:27123143 PMID:28356949

RGD:151347444, RGD:150530501, RGD:150530634, RGD:150530505

NCBI chr 1:80,140,495...80,168,705
Ensembl chr 1:80,141,207...80,168,701

G

zinc finger CCHC-type containing 12

CTD Direct Evidence: marker/mechanism

NCBI chr X:115,433,444...115,436,691
Ensembl chr X:115,433,259...115,436,692

Ferguson-Smith tumor

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

transforming growth factor, beta receptor 1

susceptibility

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ferguson-Smith type epithelioma | ClinVar Annotator: match by term: Multiple self-healing squamous epithelioma

CTD
OMIM
ClinVar

PMID:2511639 PMID:2647812 PMID:5173258 PMID:8499949 PMID:16596670 More...

NCBI chr 5:61,653,773...61,710,777
Ensembl chr 5:61,653,233...61,710,777

glottis squamous cell carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

WD repeat containing, antisense to TP53

disease_progression

RGD

NCBI chr10:54,282,092...54,299,908
Ensembl chr10:54,282,105...54,298,929

head and neck squamous 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

CTD Direct Evidence: marker/mechanism

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

G

ATP binding cassette subfamily C member 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:528,961...655,179
Ensembl chr10:531,812...655,114

G

ATP binding cassette subfamily C member 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:242,664,657...242,723,239
Ensembl chr 1:242,664,657...242,723,238

G

ATP binding cassette subfamily G member 2

CTD Direct Evidence: marker/mechanism

NCBI chr 4:87,676,241...87,802,757
Ensembl chr 4:87,745,319...87,802,409

G

ABL proto-oncogene 1, non-receptor tyrosine kinase

ClinVar Annotator: match by term: Lip and oral cavity carcinoma

PMID:11569495 PMID:11853795 PMID:12399961 PMID:12623848 PMID:14745431 More...

NCBI chr 3:14,979,853...15,083,065
Ensembl chr 3:14,979,853...15,083,065

G

AKT serine/threonine kinase 1

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Head and neck squamous cell carcinoma

PMID:17611497 PMID:18256540 PMID:18392055 PMID:18504432 PMID:18611285 More...

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

G

ankyrin repeat domain 17

ClinVar Annotator: match by term: Lip and oral cavity carcinoma

NCBI chr14:17,723,239...17,861,841
Ensembl chr14:17,721,932...17,862,617

G

ATPase copper transporting beta

CTD Direct Evidence: marker/mechanism

NCBI chr16:69,952,286...70,024,404
Ensembl chr16:69,951,778...70,023,636

G

beta-2 microglobulin

ClinVar Annotator: match by term: Lip and oral cavity carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck

NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766

G

baculoviral IAP repeat-containing 2

exacerbates

mRNA:increased expression:head or neck skin (human)

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

G

baculoviral IAP repeat-containing 3

ameliorates

mRNA:increased expression:head or neck skin (human)

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

G

B-Raf proto-oncogene, serine/threonine kinase

ClinVar Annotator: match by term: Lip and oral cavity carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck

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

caspase 8

CTD Direct Evidence: marker/mechanism

NCBI chr 9:60,263,863...60,312,542
Ensembl chr 9:60,264,075...60,312,542

G

coiled-coil domain containing 3

ClinVar Annotator: match by term: Lip and oral cavity carcinoma

NCBI chr17:73,031,891...73,135,173
Ensembl chr17:73,035,045...73,135,337

G

cyclin A1

CTD Direct Evidence: marker/mechanism

PMID:23358896 PMID:29464035

NCBI chr 2:139,231,738...139,278,066
Ensembl chr 2:139,201,074...139,243,157

G

cyclin A2

CTD Direct Evidence: marker/mechanism

NCBI chr 2:119,427,239...119,433,645
Ensembl chr 2:119,426,089...119,433,577

G

cyclin B1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:31,912,190...31,921,163
Ensembl chr 2:31,912,193...31,921,172

G

cyclin D1

disease_progression

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:26909611 PMID:29464035 PMID:9796972

NCBI chr 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602

G

cyclin E1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:90,781,947...90,791,188
Ensembl chr 1:90,781,949...90,791,101

G

cyclin E2

CTD Direct Evidence: marker/mechanism

NCBI chr 5:24,285,078...24,298,258
Ensembl chr 5:24,284,922...24,297,632

G

cell division cycle 73

exacerbates

protein:increased expression:squamous epithelium (human)

RGD

NCBI chr13:55,357,226...55,449,690
Ensembl chr13:55,357,226...55,449,656

G

cyclin dependent kinase 2

CTD Direct Evidence: marker/mechanism

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

G

cyclin-dependent kinase 4

CTD Direct Evidence: marker/mechanism

NCBI chr 7:62,886,124...62,889,562
Ensembl chr 7:62,883,105...62,942,403

G

cyclin-dependent kinase 6

CTD Direct Evidence: marker/mechanism

NCBI chr 4:30,637,650...30,829,688
Ensembl chr 4:30,646,460...30,829,634

G

cyclin-dependent kinase inhibitor 2A

disease_progression

DNA:SNPs: :rs3731217, rs3088440 (human)
ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Lip and oral cavity carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck
CTD Direct Evidence: marker/mechanism

ClinVar
CTD
RGD

PMID:7718873 PMID:7777061 PMID:7780957 PMID:8153634 PMID:8521414 More...

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

G

chromodomain helicase DNA binding protein 4

mRNA:increased expression:head or neck skin (human)

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

G

claudin 1

CTD Direct Evidence: marker/mechanism

NCBI chr11:74,421,569...74,436,728
Ensembl chr11:74,421,569...74,436,724

G

contactin 4

ClinVar Annotator: match by term: Lip and oral cavity carcinoma

NCBI chr 4:138,624,584...139,622,499
Ensembl chr 4:139,099,152...139,621,090

G

CREB binding protein

ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck

PMID:21390126 PMID:21680795 PMID:21796119 PMID:22832583 PMID:23334668 More...

NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888

G

catenin beta 1

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck

PMID:9927029 PMID:10192393 PMID:23265383 PMID:25157968 PMID:26619011 More...

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

G

cytochrome P450, subfamily 2, polypeptide 11

treatment

DNA:polymorphisms: :CYP2C9*2(human)

RGD

NCBI chr 1:236,762,719...236,799,069
Ensembl chr 1:236,762,842...236,799,066

G

cytochrome P450, family 2, subfamily C, polypeptide 6

treatment

DNA:polymorphisms: :CYP2C19*2(human)

RGD

NCBI chr 1:237,938,521...237,976,238
Ensembl chr 1:237,693,094...238,057,596

G

cytochrome P450, family 2, subfamily d, polypeptide 4

treatment

DNA:polymorphisms: :CYP2D6*4,CYP2D6*10(human)

RGD

NCBI chr 7:113,882,584...113,891,754
Ensembl chr 7:113,881,618...113,891,759

G

discoidin domain receptor tyrosine kinase 2

severity

RGD

NCBI chr13:82,193,623...82,318,229
Ensembl chr13:82,195,463...82,317,363

G

DNA methyltransferase 3 beta

susceptibility

DNA:SNP,haplotype:promoter:-149C>T,-579G>T(human)

RGD

NCBI chr 3:142,130,588...142,169,128
Ensembl chr 3:142,130,592...142,169,124

G

dihydropyrimidine dehydrogenase

ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck

NCBI chr 2:206,609,043...207,474,982
Ensembl chr 2:206,609,122...207,474,982

G

epidermal growth factor receptor

ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Lip and oral cavity carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck

PMID:15118073 PMID:15118125 PMID:15788655 PMID:17177598 PMID:17285735 More...

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

G

E1A binding protein p300

ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck

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

erb-b2 receptor tyrosine kinase 2

disease_progression

ClinVar Annotator: match by term: Head and neck squamous cell carcinoma

PMID:22908275 PMID:26619011 PMID:20604875

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

G

erb-b2 receptor tyrosine kinase 4

severity

RGD

NCBI chr 9:69,523,733...70,596,743
Ensembl chr 9:69,531,481...70,596,595

G

FA complementation group B

DNA:hypermethylation:promoter

RGD

NCBI chr X:29,403,771...29,420,484
Ensembl chr X:29,403,771...29,420,192

G

FA complementation group D2

RGD

NCBI chr 4:146,679,014...146,743,422
Ensembl chr 4:146,679,179...146,743,412

G

F-box and WD repeat domain containing 7

ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck

PMID:25741868 PMID:26619011

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: Head and neck squamous cell carcinoma
ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck

PMID:1908846 PMID:7773297 PMID:8589699 PMID:8640234 PMID:8858131 More...

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

G

fibroblast growth factor receptor 4

severity

DNA:SNP:exon 9: p.G388R (human)

RGD

NCBI chr17:9,461,541...9,476,268
Ensembl chr17:9,461,547...9,476,242

G

fragile histidine triad diadenosine triphosphatase

ClinVar Annotator: match by term: Lip and oral cavity carcinoma

NCBI chr15:13,935,029...15,442,620
Ensembl chr15:13,934,995...15,442,340

G

GNAS complex locus

ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck

PMID:1517386 PMID:1594625 PMID:1944469 PMID:2549426 PMID:3720010 More...

NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262
Ensembl chr 3:163,071,417...163,127,262

G

glutamate ionotropic receptor kainate type subunit 2

ClinVar Annotator: match by term: Lip and oral cavity carcinoma

NCBI chr20:52,135,325...52,833,061
Ensembl chr20:52,133,851...52,838,375

G

homeo box A5

CTD Direct Evidence: marker/mechanism

NCBI chr 4:81,302,341...81,306,234
Ensembl chr 4:81,302,353...81,306,234

G

homeo box D10

CTD Direct Evidence: marker/mechanism

NCBI chr 3:59,594,516...59,597,725
Ensembl chr 3:59,594,516...59,597,725

G

homeobox D11

CTD Direct Evidence: marker/mechanism

NCBI chr 3:59,584,840...59,587,257
Ensembl chr 3:59,585,039...59,586,783

G

HRas proto-oncogene, GTPase

ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Lip and oral cavity carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck

PMID:1904555 PMID:2105486 PMID:3510078 PMID:11150980 PMID:12727991 More...

NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615

G

isocitrate dehydrogenase (NADP(+)) 2

ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck

PMID:20171147 PMID:20847235 PMID:20946881 PMID:21647154 PMID:21889589 More...

NCBI chr 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025

G

interferon, lambda 3

CTD Direct Evidence: therapeutic

NCBI chr 1:83,814,456...83,816,096
Ensembl chr 1:83,814,564...83,816,096

G

insulin-like growth factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296

G

interleukin 1 alpha

CTD Direct Evidence: marker/mechanism

NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822

G

interleukin 1 receptor accessory protein

CTD Direct Evidence: marker/mechanism

NCBI chr11:74,062,999...74,199,530
Ensembl chr11:74,070,304...74,199,530

G

interleukin 2

RGD

PMID:3263896 PMID:2787951

RGD:8662923, RGD:8662971

NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566

G

inhibitor of growth family, member 1

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck

OMIM
CTD
ClinVar

NCBI chr16:77,937,276...77,945,320
Ensembl chr16:77,937,279...77,946,264

G

insulin receptor substrate 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:83,552,964...83,605,797
Ensembl chr 9:83,548,944...83,606,122

G

JunB proto-oncogene, AP-1 transcription factor subunit

ameliorates

human cell line in a mouse model

RGD

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

G

Kelch-like ECH-associated protein 1

ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck

NCBI chr 8:19,768,375...19,777,862
Ensembl chr 8:19,768,375...19,777,862

G

KiSS-1 metastasis-suppressor

CTD Direct Evidence: therapeutic

NCBI chr13:44,775,106...44,780,707
Ensembl chr13:44,774,823...44,780,612

G

KIT proto-oncogene receptor tyrosine kinase

ClinVar Annotator: match by term: Lip and oral cavity carcinoma

PMID:16307017 PMID:22703879 PMID:24728327 PMID:25741868 PMID:28492532 More...

NCBI chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652

G

ligand of numb-protein X 1

ClinVar Annotator: match by term: Lip and oral cavity carcinoma

NCBI chr14:33,514,429...33,617,086
Ensembl chr14:33,514,436...33,617,086

G

leucine rich repeat containing 56

ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Lip and oral cavity carcinoma
ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Lip and oral cavity carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck

PMID:1904555 PMID:2105486 PMID:3510078 PMID:11150980 PMID:12727991 More...

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

G

mitogen activated protein kinase kinase 1

ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck

PMID:23444215 PMID:25157968 PMID:26619011

NCBI chr 8:64,683,449...64,754,900
Ensembl chr 8:64,683,449...64,755,147

G

mitogen activated protein kinase kinase 2

ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck

PMID:18042262 PMID:26619011

NCBI chr 7:8,590,729...8,610,279
Ensembl chr 7:8,580,905...8,610,243

G

mitogen activated protein kinase 1

ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck

NCBI chr11:83,957,813...84,023,629
Ensembl chr11:83,957,813...84,023,616

G

O-6-methylguanine-DNA methyltransferase

CTD Direct Evidence: marker/mechanism

NCBI chr 1:191,710,980...191,937,760
Ensembl chr 1:191,710,930...191,937,756

G

microRNA 155

RGD

NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718

G

microRNA 222

CTD Direct Evidence: marker/mechanism

NCBI chr X:3,428,904...3,429,006
Ensembl chr X:3,428,904...3,429,006

G

microRNA 494

exacerbates

RGD

NCBI chr 6:128,728,710...128,728,792
Ensembl chr 6:128,728,709...128,728,793

G

matrix metallopeptidase 2

ClinVar Annotator: match by term: Lip and oral cavity carcinoma

NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870

G

NLR family, apoptosis inhibitory protein 6

ameliorates

mRNA:increased expression:head or neck skin (human)

NCBI chr 2:31,507,423...31,559,098
Ensembl chr 2:31,507,424...31,570,542

G

nicotinamide phosphoribosyltransferase

CTD Direct Evidence: marker/mechanism

NCBI chr 6:49,425,316...49,462,109
Ensembl chr 6:49,424,332...49,462,100

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

NFE2 like bZIP transcription factor 2

ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck

PMID:26619011 PMID:29018201

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

G

NAD(P) dependent steroid dehydrogenase-like

CTD Direct Evidence: marker/mechanism

NCBI chr X:150,775,034...150,807,161
Ensembl chr X:150,775,080...150,807,142

G

8-oxoguanine DNA glycosylase

susceptibility

DNA:SNP: :rs1052133 (human)

RGD

PMID:22081374 PMID:21727658

RGD:8657144, RGD:8657147

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

G

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

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck

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

RNA polymerase I and III subunit C

ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck

NCBI chr 9:14,735,740...14,739,852
Ensembl chr 9:14,735,714...14,739,852

G

protein phosphatase 2 scaffold subunit A alpha

ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck

PMID:25741868 PMID:26168268 PMID:26619011 PMID:28492532 PMID:31687265 More...

NCBI chr 1:60,540,223...60,559,467
Ensembl chr 1:60,540,194...60,560,129

G

phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2

ClinVar Annotator: match by term: Lip and oral cavity carcinoma

NCBI chr 5:7,937,692...8,253,112
Ensembl chr 5:7,942,573...8,253,068

G

phosphatase and tensin homolog

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck

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

prostaglandin-endoperoxide synthase 2

CTD Direct Evidence: marker/mechanism

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

G

protein tyrosine phosphatase, non-receptor type 13

susceptibility

DNA:SNPs:cds:c.4566 A>G(I1522M)(rs2230600), c.6241 T>G (Y2081D)(rs989902)(human)
DNA:missense mutations:cds:p.I1522M, p.Y2081D (human)

RGD

PMID:19892796 PMID:19672627

RGD:152176661, RGD:152176665

NCBI chr14:6,108,202...6,282,619
Ensembl chr14:6,108,211...6,282,563

G

Rac family small GTPase 1

ClinVar Annotator: match by term: Head and neck squamous cell carcinoma

PMID:25056119 PMID:26619011

NCBI chr12:11,037,028...11,057,251
Ensembl chr12:11,036,698...11,057,251

G

RAS guanyl releasing protein 3

ClinVar Annotator: match by term: Lip and oral cavity carcinoma

NCBI chr 6:19,895,361...19,993,945
Ensembl chr 6:19,895,390...19,958,578

G

RB transcriptional corepressor 1

ClinVar Annotator: match by term: Lip and oral cavity carcinoma

NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302

G

ras homolog family member A

ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck

NCBI chr 8:108,991,926...109,025,746
Ensembl chr 8:108,991,954...109,025,746

G

sterile alpha motif domain containing 4A

ClinVar Annotator: match by term: Lip and oral cavity carcinoma

NCBI chr15:20,135,994...20,352,131
Ensembl chr15:20,134,377...20,348,380

G

serpin family E member 1

severity

protein:increased expression:oral mucosa (human)

RGD

NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657

G

solute carrier family 29 member 1

ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck

NCBI chr 9:15,399,661...15,414,203
Ensembl chr 9:15,399,612...15,414,203

G

SMAD family member 4

ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck

PMID:8898652 PMID:9214508 PMID:9285566 PMID:9582123 PMID:9679244 More...

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

G

syntrophin, beta 1

ClinVar Annotator: match by term: Lip and oral cavity carcinoma

NCBI chr 7:87,060,926...87,329,315
Ensembl chr 7:87,060,926...87,329,315

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

signal transducer and activator of transcription 3

treatment

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:27064016 PMID:24395569

NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057

G

serine/threonine kinase 11

ClinVar Annotator: match by term: Lip and oral cavity carcinoma

PMID:25741868 PMID:26467025 PMID:28492532 PMID:31775759 PMID:34326862

NCBI chr 7:9,574,553...9,591,315
Ensembl chr 7:9,575,269...9,591,315

G

TNF receptor superfamily member 10b

DNA:missense mutation:cds:p.E228A (c.683A>C) (human)

RGD

NCBI chr15:44,840,386...44,868,318
Ensembl chr15:44,840,386...44,867,467

G

tumor protein p53

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Lip and oral cavity carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck
ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Lip and oral cavity carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck | ClinVar Annotator: match by term: Squamous cell carcinoma, head and neck, somatic

PMID:124622 PMID:253702 PMID:960674 PMID:1349102 PMID:1349175 More...

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

G

U2 small nuclear RNA auxiliary factor 1

ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck

PMID:22158538 PMID:23029227 PMID:23861105 PMID:24498085 PMID:26619011

NCBI chr20:9,742,904...9,753,840
Ensembl chr20:9,742,905...9,753,832

G

vesicle-associated membrane protein 7

CTD Direct Evidence: marker/mechanism

NCBI chr12:16,728,486...16,764,261
Ensembl chr12:16,728,524...16,764,097

G

WEE1 G2 checkpoint kinase

CTD Direct Evidence: marker/mechanism

NCBI chr 1:164,173,681...164,197,688
Ensembl chr 1:164,174,779...164,197,688

G

WD repeat containing, antisense to TP53

treatment

ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck

PMID:25070141 PMID:25456005

RGD:21081533, RGD:21081529

NCBI chr10:54,282,092...54,299,908
Ensembl chr10:54,282,105...54,298,929

G

Yes1 associated transcriptional regulator

CTD Direct Evidence: marker/mechanism

NCBI chr 8:5,095,705...5,166,808
Ensembl chr 8:5,095,722...5,167,010

keratoacanthoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

notch receptor 1

ClinVar Annotator: match by term: Keratoacanthoma

NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531

G

notch receptor 2

ClinVar Annotator: match by term: Keratoacanthoma

NCBI chr 2:185,610,594...185,744,088
Ensembl chr 2:185,610,589...185,744,088

G

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

ClinVar Annotator: match by term: Keratoacanthoma

PMID:22949682 PMID:23246288 PMID:25741868 PMID:26619011 PMID:27283355 More...

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

laryngeal squamous cell carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adenosine deaminase

protein:decreased activity:larynx

RGD

NCBI chr 3:152,398,745...152,422,854
Ensembl chr 3:152,398,747...152,447,088

G

catalase

protein:increased activity:larynx

RGD

NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478

G

cell division cycle 73

disease_progression

protein:decreased expression:larynx (human)

RGD

NCBI chr13:55,357,226...55,449,690
Ensembl chr13:55,357,226...55,449,656

G

cyclin-dependent kinase inhibitor 1A

RGD

NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585

G

chromodomain helicase DNA binding protein 4

exacerbates

mRNA:increased expression:larynx (human)

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

G

epidermal growth factor receptor

disease_progression

RGD

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

G

erb-b2 receptor tyrosine kinase 2

disease_progression

RGD

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

G

erb-b2 receptor tyrosine kinase 3

disease_progression

RGD

NCBI chr 7:994,549...1,015,876
Ensembl chr 7:996,225...1,015,525

G

erb-b2 receptor tyrosine kinase 4

disease_progression

RGD

NCBI chr 9:69,523,733...70,596,743
Ensembl chr 9:69,531,481...70,596,595

G

forkhead box L2

exacerbates

mRNA:increased expression:larynx (human)

RGD

NCBI chr 8:99,512,971...99,514,500
Ensembl chr 8:99,513,303...99,514,427

G

glutathione peroxidase 1

disease_progression
no_association

protein:increased expression:larynx (human)
DNA:missense mutation:CDS:p.P198L (human)
DNA:missense mutation:CDS:p.P198L (rs1050450) (human)

RGD

PMID:28641905 PMID:24074040 PMID:27188866

RGD:152995454, RGD:152995493, RGD:152995455

NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024

G

mitogen activated protein kinase kinase 4

severity

associated with Neoplasm Metastasis; protein:mRNA,increased expression:larynx epithelium (human)

RGD

NCBI chr10:50,343,227...50,447,956
Ensembl chr10:50,344,915...50,447,993

G

microRNA 10a

severity

miRNA:decreased expression:blood serum (human)

NCBI chr10:81,283,171...81,283,280
Ensembl chr10:81,283,171...81,283,280

G

microRNA 136

RNA:decreased expression:larynx (human)

RGD

NCBI chr 6:128,549,096...128,549,177
Ensembl chr 6:128,549,096...128,549,177

G

microRNA 21

exacerbates

miRNA:increased expression:blood serum (human)

NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348

G

microRNA 31

disease_progression

RNA:decreased expression:mucosa of larynx (human)

RGD

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

G

mutL homolog 1

disease_progression

mRNA:decreased expression:larynx

RGD

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

G

matrix metallopeptidase 2

RGD

NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870

G

mutS homolog 2

disease_progression

mRNA:decreased expression:larynx

RGD

NCBI chr 6:6,813,793...6,872,960
Ensembl chr 6:6,813,795...6,872,938

G

N-acetyltransferase 2

susceptibility

DNA:polymorphisms: :

RGD

PMID:19922706 PMID:16155914

RGD:5131602, RGD:5131856

NCBI chr16:22,207,362...22,238,513
Ensembl chr16:22,208,194...22,238,520

G

phospholipase C, gamma 1

ameliorates

mRNA:increased expression:larynx (human)

RGD

NCBI chr 3:149,385,587...149,416,330
Ensembl chr 3:149,385,587...149,416,330

G

RELA proto-oncogene, NF-kB subunit

severity

associated with Neoplasm Metastasis; protein:mRNA,increased expression:larynx epithelium (human)

RGD

NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484

G

xanthine dehydrogenase

protein:increased activity:larynx

RGD

NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268

G

X-ray repair cross complementing 1

ClinVar Annotator: match by term: Laryngeal squamous cell carcinoma

NCBI chr 1:80,140,495...80,168,705
Ensembl chr 1:80,141,207...80,168,701

lung squamous cell carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

AKT serine/threonine kinase 1

ClinVar Annotator: match by term: Squamous cell carcinoma of lung

PMID:17611497 PMID:18256540 PMID:18392055 PMID:18504432 PMID:18611285 More...

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

G

ALK receptor tyrosine kinase

ClinVar Annotator: match by term: Squamous cell lung carcinoma

PMID:24033266 PMID:24728327 PMID:25741868 PMID:28492532

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

G

Rho GTPase activating protein 44

mRNA:decreased expression:lung (human)

RGD

NCBI chr10:49,655,583...49,822,876
Ensembl chr10:49,655,584...49,824,297

G

AT-rich interaction domain 1A

exacerbates

protein:decreased expression:lung (human)

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

G

actin related protein 2/3 complex, subunit 5

mRNA:increased expression:lung (human)

RGD

NCBI chr13:64,904,504...64,913,413
Ensembl chr13:64,887,136...64,913,410

G

ATM serine/threonine kinase

susceptibility

DNA:SNP:intron:(rs228589) (human)

NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437

G

ATRX, chromatin remodeler

severity

RGD

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

G

beta-2 microglobulin

ClinVar Annotator: match by term: Squamous cell lung carcinoma

NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766

G

baculoviral IAP repeat-containing 5

disease_progression

mRNA:increased expression:lung (human)

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

G

baculoviral IAP repeat-containing 6

disease_progression

mRNA:increased expression:lung (human)

NCBI chr 6:20,722,922...20,916,396
Ensembl chr 6:20,722,922...20,916,434

G

B-Raf proto-oncogene, serine/threonine kinase

ClinVar Annotator: match by term: Squamous cell lung carcinoma

PMID:12068308 PMID:12460918 PMID:12460919 PMID:12960123 PMID:14612909 More...

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

G

basigin

mRNA:increased expression:lung

RGD

NCBI chr 7:9,993,170...10,000,387
Ensembl chr 7:9,993,170...10,000,387

G

Cbl proto-oncogene B

disease_progression

RGD

NCBI chr11:48,589,878...48,756,940
Ensembl chr11:48,592,703...48,756,839

G

cyclin D1

disease_progression

protein:increased expression:lung

RGD

NCBI chr 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602

G

cyclin D2

DNA:hypermethylation:promoter

RGD

NCBI chr 4:159,966,883...159,989,261
Ensembl chr 4:159,962,363...159,989,495

G

cyclin-dependent kinase 4

protein:increased expression:lung

RGD

NCBI chr 7:62,886,124...62,889,562
Ensembl chr 7:62,883,105...62,942,403

G

cyclin-dependent kinase inhibitor 2A

ClinVar Annotator: match by term: Squamous cell lung carcinoma

PMID:7777061 PMID:8552400 PMID:8573142 PMID:8595405 PMID:8668202 More...

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

G

chromodomain helicase DNA binding protein 4

mRNA:increased expression:lung (human)

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

G

cholinergic receptor nicotinic alpha 5 subunit

susceptibility

DNA:SNP: :rs503464(human)
mRNA:increased expression:lung

RGD

PMID:23314339 PMID:20124469

RGD:150527849, RGD:150527851

NCBI chr 8:55,369,794...55,398,526
Ensembl chr 8:55,369,794...55,398,146

G

cholinergic receptor nicotinic beta 4 subunit

susceptibility

mRNA:increased expression:lung
DNA:hypomethylation:promoter:
DNA:SNP:: (rs7178270) (human)

RGD

PMID:20124469 PMID:22945651 PMID:23397474

RGD:150527851, RGD:151361154, RGD:151361148

NCBI chr 8:55,417,583...55,437,027
Ensembl chr 8:55,418,313...55,437,027

G

CLPTM1-like

susceptibility
no_association

mRNA:increased expression:lung
DNA:SNP: :rs401681(human)
DNA:SNP::rs401681(human)
DNA:SNP:: rs31490(human)

RGD

PMID:24366883 PMID:24386361 PMID:24861918 PMID:23908149

RGD:150530483, RGD:150537098, RGD:150530499, RGD:150530498

NCBI chr 1:29,667,545...29,683,530
Ensembl chr 1:29,667,545...29,683,530

G

CREB binding protein

ClinVar Annotator: match by term: Squamous cell lung carcinoma

PMID:21390126 PMID:21680795 PMID:21796119 PMID:22832583 PMID:23334668 More...

NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888

G

colony stimulating factor 1 receptor

protein:increased expression:lung (human)

RGD

NCBI chr18:54,546,673...54,590,418
Ensembl chr18:54,546,659...54,590,415

G

catenin beta 1

disease_progression

protein:increased expression:lung

RGD

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

G

cytochrome c, somatic

treatment

RGD

NCBI chr 4:79,651,894...79,653,994
Ensembl chr 4:79,651,378...79,654,054
Ensembl chr18:79,651,378...79,654,054

G

cytochrome P450, family 1, subfamily b, polypeptide 1

susceptibility

Carcinoma, Squamous Cell;DNA:snp:cds:p.A119S (human)

RGD

NCBI chr 6:15,342,312...15,350,886
Ensembl chr 6:15,342,344...15,350,917

G

discoidin domain receptor tyrosine kinase 2

severity

ClinVar Annotator: match by term: Squamous cell lung carcinoma
mRNA:increased expression:lung

PMID:22328973 PMID:25741868 PMID:26206333 PMID:28492532 PMID:24885564 More...

RGD:150429702, RGD:150429703

NCBI chr13:82,193,623...82,318,229
Ensembl chr13:82,195,463...82,317,363

G

E2F transcription factor 1

treatment

RGD

NCBI chr 3:143,064,535...143,075,362
Ensembl chr 3:143,049,478...143,075,361

G

E2F transcription factor 3

RGD

NCBI chr17:34,601,756...34,679,139
Ensembl chr17:34,601,830...34,676,253

G

eukaryotic translation elongation factor 2

disease_progression

protein:increased expression:lung (human)

NCBI chr 7:8,533,248...8,538,518
Ensembl chr 7:8,533,116...8,559,183

G

epidermal growth factor receptor

ClinVar Annotator: match by term: Squamous cell carcinoma of lung | ClinVar Annotator: match by term: Squamous cell lung carcinoma

PMID:15118073 PMID:15118125 PMID:15329413 PMID:15623594 PMID:15897572 More...

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

G

empty spiracles homeobox 2

exacerbates

protein:decreased expression:lung (human)

RGD

NCBI chr 1:258,626,584...258,633,594
Ensembl chr 1:258,626,584...258,633,594

G

E1A binding protein p300

ClinVar Annotator: match by term: Squamous cell lung carcinoma

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

Eph receptor A2

ClinVar Annotator: match by term: Squamous cell lung carcinoma

PMID:20360610 PMID:25741868 PMID:28492532

NCBI chr 5:153,605,644...153,634,115
Ensembl chr 5:153,605,644...153,634,117

G

ERCC excision repair 6, chromatin remodeling factor

mRNA, protein:increased expression:lung (human)

RGD

NCBI chr16:7,764,983...7,835,587
Ensembl chr16:7,765,013...7,835,587

G

ERCC excision repair 6 like, spindle assembly checkpoint helicase

mRNA:increased expression:lung (human)

RGD

NCBI chr X:67,245,414...67,261,222
Ensembl chr X:67,245,414...67,280,756

G

fibroblast activation protein, alpha

disease_progression

RGD

NCBI chr 3:47,138,823...47,207,671
Ensembl chr 3:47,138,813...47,225,545

G

F-box and WD repeat domain containing 7

ClinVar Annotator: match by term: Squamous cell lung carcinoma

PMID:25741868 PMID:26619011

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

G

fibroblast growth factor 9

mRNA:decreased expression:lung (human)

RGD

NCBI chr15:32,208,993...32,254,952
Ensembl chr15:32,210,074...32,253,309

G

fibroblast growth factor receptor 2

ClinVar Annotator: match by term: Squamous cell lung carcinoma

PMID:9150725 PMID:23786770 PMID:25741868

NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626

G

fibroblast growth factor receptor 3

ClinVar Annotator: match by term: Squamous cell carcinoma of lung | ClinVar Annotator: match by term: Squamous cell lung carcinoma

PMID:1908846 PMID:7773297 PMID:8589699 PMID:8640234 PMID:8858131 More...

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

G

fibroblast growth factor receptor 4

disease_progression

human cells in mouse model

RGD

NCBI chr17:9,461,541...9,476,268
Ensembl chr17:9,461,547...9,476,242

G

frizzled-related protein

protein:decreased expression:lung (human)

RGD

NCBI chr 3:65,332,274...65,365,208
Ensembl chr 3:65,332,277...65,365,208

G

far upstream element binding protein 1

mRNA:decreased expression:lung (human)

RGD

NCBI chr 2:241,159,481...241,186,591
Ensembl chr 2:241,159,512...241,186,602

G

glutathione peroxidase 1

susceptibility

DNA:missense mutation:CDS:p.P198L (rs1050450) (human)
DNA:missense mutation:CDS:p.P200L (rs1050450) (human)

RGD

PMID:16797832 PMID:18298806

RGD:152995481, RGD:152995507

NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024

G

HRas proto-oncogene, GTPase

ClinVar Annotator: match by term: Squamous cell carcinoma of lung | ClinVar Annotator: match by term: Squamous cell lung carcinoma

PMID:1904555 PMID:3510078 PMID:12835555 PMID:16329078 PMID:16372351 More...

NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615

G

isocitrate dehydrogenase (NADP(+)) 1

protein:increased expression:blood plasma (human)

RGD

NCBI chr 9:66,534,146...66,563,703
Ensembl chr 9:66,534,146...66,563,708

G

isocitrate dehydrogenase (NADP(+)) 2

severity
susceptibility

protein:increased expression:lung (human)
protein:increased expression:blood serum (human)
DNA:SNP:CD: (rs11540478) C>T (human)

RGD

PMID:30128035 PMID:29465809 PMID:27649069

RGD:149735564, RGD:149735567, RGD:149735566

NCBI chr 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025

G

KIT proto-oncogene receptor tyrosine kinase

ClinVar Annotator: match by term: Squamous cell lung carcinoma

NCBI chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652

G

lysine methyltransferase 2D

disease_progression

RGD

PMID:24323028 PMID:30885352 PMID:28177435

RGD:150523770, RGD:150523777, RGD:150523776

NCBI chr 7:129,980,744...130,022,088
Ensembl chr 7:129,962,887...130,020,325

G

KRAS proto-oncogene, GTPase

ClinVar Annotator: match by term: Squamous cell carcinoma of lung | ClinVar Annotator: match by term: Squamous cell lung carcinoma

PMID:2278970 PMID:3122217 PMID:6695174 PMID:12460918 PMID:15696205 More...

NCBI chr 4:178,185,418...178,218,484

G

laminin subunit gamma 2

disease_progression

RGD

NCBI chr13:65,284,664...65,344,164
Ensembl chr13:65,284,664...65,344,200

G

leucine rich repeat containing 56

ClinVar Annotator: match by term: Squamous cell carcinoma of lung | ClinVar Annotator: match by term: Squamous cell lung carcinoma

PMID:1904555 PMID:3510078 PMID:12835555 PMID:16329078 PMID:16372351 More...

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

G

mitogen activated protein kinase kinase 1

ClinVar Annotator: match by term: Squamous cell lung carcinoma

NCBI chr 8:64,683,449...64,754,900
Ensembl chr 8:64,683,449...64,755,147

G

mitogen activated protein kinase kinase 7

mRNA:decreased expression:lung (human)

RGD

NCBI chr12:2,591,312...2,600,534
Ensembl chr12:2,591,219...2,604,222

G

mediator complex subunit 12

ClinVar Annotator: match by term: Squamous cell lung carcinoma

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

G

MET proto-oncogene, receptor tyrosine kinase

ClinVar Annotator: match by term: Squamous cell lung carcinoma

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

G

microRNA 154

associated with nicotine dependence; RNA:decreased expression:blood serum (human)

RGD

NCBI chr 6:128,752,947...128,753,030
Ensembl chr 6:128,752,947...128,753,030

G

microRNA 193a

exacerbates

DNA:Hypermethylation

RGD

NCBI chr10:64,672,343...64,672,454
Ensembl chr10:64,672,343...64,672,454

G

microRNA 20a

RGD

NCBI chr15:92,181,084...92,181,168
Ensembl chr15:92,181,084...92,181,168

G

microRNA 210

miRNA:increased expression:sputum (human)

RGD

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

G

microRNA 31

severity

RNA:increased expression:blood serum (human)
RNA:increased expression:lung (human)

RGD

PMID:21658006 PMID:21890451

RGD:152998938, RGD:152998950

NCBI chr 5:1