squamous cell neoplasm - 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 neoplasm	go back to main search page
Accession:	DOID:3168	browse the term
Definition:	A cell type benign neoplasm composed_of epithelial cells located_in the ectodermal or endodermal cells linking body cavities. (DO)
Synonyms:	exact_synonym:	epidermoid cell tumor; squamous cell neoplasms; squamous cell tumor
	primary_id:	MESH:D018307
	xref:	NCI:C3792
For additional species annotation, visit the Alliance of Genome Resources.

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Rat (718) Mouse (686) Human (5131) Chinchilla (598) Bonobo (642) Dog (664) Squirrel (600) Pig (650) Green Monkey (633) Naked Mole-rat (587) All
Genes (642)

squamous cell neoplasm

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BRCA2 DNA repair associated

CTD Direct Evidence: marker/mechanism

NCBI chr13:13,574,422...13,658,967
Ensembl chr13:32,010,066...32,091,332

G

checkpoint kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chr22:9,757,038...9,811,171

G

serine/threonine kinase receptor associated protein

NCBI chr12:15,883,512...15,904,778
Ensembl chr12:16,279,956...16,300,746

G

tumor protein p63

CTD Direct Evidence: marker/mechanism

NCBI chr 3:186,651,879...186,918,300
Ensembl chr 3:195,199,167...195,474,104

adenoid squamous cell carcinoma

term browser

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Object Name

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PubMed Reference(s)

RGD Reference(s)

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G

HNF1 homeobox A

NCBI chr12:118,562,308...118,584,596
Ensembl chr12:121,932,671...121,955,911

adenosquamous gallbladder carcinoma

term browser

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Object Name

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Source

PubMed Reference(s)

RGD Reference(s)

Position

G

discoidin domain receptor tyrosine kinase 2

disease_progression

NCBI chr 1:138,048,730...138,200,426
Ensembl chr 1:141,932,158...141,990,766

G

interferon induced transmembrane protein 1

disease_progression

NCBI chr11:309,930...311,177
Ensembl chr11:353,236...354,986

adenosquamous lung carcinoma

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

transthyretin

protein:increased expression:lung (human)

NCBI chr18:24,809,707...24,816,713
Ensembl chr18:28,407,893...28,414,960

Aerodigestive Tract Squamous Cell Carcinoma

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

alcohol dehydrogenase 1B (class I), beta polypeptide

ClinVar Annotator: match by term: Aerodigestive tract cancer, squamous cell, alcohol-related, protection against

PMID:2398055 PMID:2547609 PMID:6374651 PMID:10697413 PMID:12050823

NCBI chr 4:91,726,870...91,741,824
Ensembl chr 4:102,388,575...102,435,079

anogenital venereal wart

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

C-C motif chemokine ligand 20

protein:decreased expression:skin

NCBI chr2B:115,052,768...115,056,479
Ensembl chr2B:233,862,505...233,866,225

G

CD8 subunit alpha

mRNA:decreased expression:zone of skin (human)

NCBI chr2A:86,832,559...86,855,772
Ensembl chr2A:88,377,722...88,382,635

G

cytotoxic T-lymphocyte associated protein 4

mRNA,protein:increased expression:multiple (human)

NCBI chr2B:91,054,917...91,106,234
Ensembl chr2B:209,239,417...209,244,498

G

forkhead box P3

mRNA,protein:increased expression:multiple (human)

NCBI chr X:41,550,462...41,567,492
Ensembl chr X:49,402,652...49,417,029

G

interferon alpha 6

treatment

NCBI chr 9:21,211,046...21,211,734
Ensembl chr 9:21,828,719...21,829,288

G

interleukin 10

mRNA,protein:increased expression:multiple (human)

NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371

G

interleukin 12B

treatment

protein:decreased expression:peripheral blood mononuclear cells (human)

PMID:16114559 PMID:23754510

RGD:40400714 RGD:7829774

NCBI chr 5:154,706,467...154,722,231
Ensembl chr 5:161,325,303...161,335,381

G

interleukin 2

protein:decreased expression:peripheral blood mononuclear cells (human)

NCBI chr 4:114,637,328...114,642,586
Ensembl chr 4:125,782,563...125,787,984

G

interleukin 21

protein:decreased expression:blood serum (human)

NCBI chr 4:114,795,979...114,806,936
Ensembl chr 4:125,943,495...125,951,915

G

interleukin 4

treatment

protein:increased expression:peripheral blood mononuclear cells (human)

PMID:16114559 PMID:23754510

RGD:40400714 RGD:7829774

NCBI chr 5:128,091,342...128,099,886
Ensembl chr 5:134,253,039...134,261,581

G

interleukin 6

protein:decreased expression:peripheral blood mononuclear cells (human)

NCBI chr 7:23,415,922...23,420,767

G

killer cell lectin like receptor K1

mRNA,protein:decreased expression:multiple (human)

NCBI chr12:10,411,932...10,429,256
Ensembl chr12:10,662,424...10,699,078

G

mitogen-activated protein kinase 8

treatment

mRNA:increased expression:zone of skin (human)

NCBI chr10:45,806,748...45,936,362

G

MYD88 innate immune signal transduction adaptor

mRNA,protein:increased expression:multiple (human)

NCBI chr 3:38,036,565...38,041,014
Ensembl chr 3:38,319,024...38,323,572

G

natural cytotoxicity triggering receptor 1

mRNA,protein:decreased expression:multiple (human)

NCBI chr19:51,951,496...51,957,433
Ensembl chr19:60,645,677...60,652,274

G

programmed cell death 1

mRNA,protein:increased expression:multiple (human)

NCBI chr12:130,849,353...130,858,776

G

protein tyrosine phosphatase non-receptor type 11

protein:increased expression:foreskin

NCBI chr12:110,016,364...110,107,462
Ensembl chr12:113,435,669...113,503,762

G

protein tyrosine phosphatase non-receptor type 6

protein:increased expression:foreskin

NCBI chr12:7,075,879...7,093,041
Ensembl chr12:6,991,099...7,008,830

G

serpin family F member 1

disease_progression

mRNA, protein:decreased expression:skin of body (human)

NCBI chr17:1,745,597...1,761,399
Ensembl chr17:1,638,556...1,653,568

G

transforming growth factor beta 1

mRNA,protein:increased expression:multiple (human)

NCBI chr19:38,324,009...38,347,003
Ensembl chr19:46,831,659...46,852,973

G

toll like receptor 2

mRNA,protein:increased expression:multiple (human)

NCBI chr 4:146,024,653...146,091,388
Ensembl chr 4:157,866,977...157,869,331

G

toll like receptor 3

mRNA,protein:increased expression:multiple (human)

NCBI chr 4:178,238,352...178,256,264
Ensembl chr 4:190,446,487...190,462,728

G

toll like receptor 4

mRNA,protein:increased expression:multiple (human)

NCBI chr 9:88,827,495...88,840,458
Ensembl chr 9:117,180,550...117,190,711

G

toll like receptor 7

mRNA,protein:increased expression:multiple (human)

NCBI chr X:5,479,247...5,504,810
Ensembl chr X:12,767,981...12,790,517

G

toll like receptor 8

mRNA,protein:increased expression:multiple (human)

NCBI chr X:5,518,742...5,535,304

G

tumor necrosis factor

protein:increased expression:peripheral blood mononuclear cells (human)

NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381

G

TNF receptor superfamily member 18

mRNA,protein:increased expression:multiple (human)

basaloid squamous cell carcinoma

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PubMed Reference(s)

RGD Reference(s)

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G

patched 1

DNA:missense mutations, nonsense mutations

NCBI chr 9:66,542,675...66,616,820
Ensembl chr 9:94,668,365...94,741,453

bladder squamous cell carcinoma

term browser

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G

phosphatase and tensin homolog

disease_progression

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

NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605

Bowen's Disease

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PubMed Reference(s)

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G

cyclin D1

CTD Direct Evidence: marker/mechanism

NCBI chr11:64,737,006...64,750,353

G

cyclin E1

associated with Vulvar Neoplasms;mRNA:increased expression:vulva

NCBI chr19:26,739,285...26,751,630
Ensembl chr19:35,496,700...35,510,295

G

cyclin dependent kinase inhibitor 1A

protein:increased expression:skin:

NCBI chr 6:36,241,405...36,250,032
Ensembl chr 6:37,436,990...37,445,599

G

nuclear respiratory factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:121,574,061...121,719,604
Ensembl chr 7:134,113,482...134,240,158

G

PPARG coactivator 1 alpha

CTD Direct Evidence: marker/mechanism

NCBI chr 4:18,196,431...18,876,889
Ensembl chr 4:23,483,377...23,581,212

G

transcription factor A, mitochondrial

CTD Direct Evidence: marker/mechanism

NCBI chr10:54,917,578...54,934,124
Ensembl chr10:57,138,437...57,147,972

bowenoid papulosis

term browser

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Evidence

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Source

PubMed Reference(s)

RGD Reference(s)

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G

baculoviral IAP repeat containing 2

mRNA:increased expression:perianal skin (human)

NCBI chr11:97,298,736...97,324,966
Ensembl chr11:100,793,036...100,822,421

G

baculoviral IAP repeat containing 3

mRNA:increased expression:perianal skin (human)

NCBI chr11:97,269,778...97,290,112
Ensembl chr11:100,763,274...100,785,194

Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, and Keratoderma

term browser

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Object Name

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Evidence

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Source

PubMed Reference(s)

RGD Reference(s)

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G

SAM and SH3 domain containing 1

ClinVar Annotator: match by term: Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma | ClinVar Annotator: match by term: SASH1-related condition

PMID:25315659 PMID:25741868 PMID:28492532

NCBI chr 6:146,154,178...146,368,101
Ensembl chr 6:150,863,677...151,075,816

cervical squamous cell carcinoma

term browser

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PubMed Reference(s)

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G

adenosine deaminase RNA specific

disease_progression

protein:increased expression:cervix squamous epithelium (human)

NCBI chr 1:129,937,993...129,983,747

G

BCL2 associated X, apoptosis regulator

protein:increased expression:uterine cervix

NCBI chr19:45,955,926...45,962,870
Ensembl chr19:54,793,594...54,800,468

G

baculoviral IAP repeat containing 2

disease_progression

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

NCBI chr11:97,298,736...97,324,966
Ensembl chr11:100,793,036...100,822,421

G

BRCA1 interacting DNA helicase 1

severity

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

NCBI chr17:55,786,568...55,973,366
Ensembl chr17:60,901,073...61,083,462

G

C-C motif chemokine ligand 22

severity

NCBI chr16:37,631,861...37,640,208
Ensembl chr16:56,765,367...56,771,213

G

C-C motif chemokine receptor 4

severity

NCBI chr 3:32,882,419...32,887,442
Ensembl chr 3:33,188,482...33,189,564

G

CD82 molecule

protein:decreased expression:uterine cervix

NCBI chr11:44,526,010...44,581,560
Ensembl chr11:45,020,319...45,075,876

G

colony stimulating factor 1 receptor

protein:increased expression:uterine cervix

NCBI chr 5:145,478,725...145,537,858
Ensembl chr 5:151,483,572...151,517,415

G

fibroblast growth factor 7

cervical squamous cell carcinoma; mRNA:increased expression:cervical squamous cells

NCBI chr15:28,378,339...28,442,800
Ensembl chr15:46,702,119...46,770,163

G

fibroblast growth factor receptor 3

no_association

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

NCBI chr 4:1,933,172...1,948,742
Ensembl chr 4:1,843,774...1,861,692

G

Fos proto-oncogene, AP-1 transcription factor subunit

disease_progression

protein:increased expression:uterine cervix

NCBI chr14:55,832,570...55,835,984
Ensembl chr14:74,676,316...74,679,766

G

FOS like 1, AP-1 transcription factor subunit

protein:decreased expression:uterine cervix

NCBI chr11:61,252,513...61,261,032
Ensembl chr11:64,581,841...64,589,304

G

forkhead box P3

severity

NCBI chr X:41,550,462...41,567,492
Ensembl chr X:49,402,652...49,417,029

G

podoplanin

disease_progression

NCBI chr 1:12,728,569...12,759,781
Ensembl chr 1:13,728,233...13,759,584

G

SMAD family member 3

severity

NCBI chr15:46,013,764...46,143,126
Ensembl chr15:64,284,949...64,414,185

G

TIMP metallopeptidase inhibitor 2

protein:decreased expression:uterine cervix

NCBI chr17:72,928,692...73,001,892
Ensembl chr17:78,476,807...78,495,649

G

transmembrane BAX inhibitor motif containing 6

disease_progression

mRNA:increased expression:uterine cervix

NCBI chr12:38,986,844...39,010,307
Ensembl chr12:39,879,951...39,902,303

G

TNF receptor superfamily member 4

severity

Ensembl chr 1:1,168,935...1,171,337

G

TNF superfamily member 4

severity

NCBI chr 1:148,684,689...148,989,775
Ensembl chr 1:152,391,450...152,415,845
Ensembl chr 1:152,391,450...152,415,845

G

tumor protein p53

disease_progression

NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120

G

thymidine phosphorylase

disease_progression

NCBI chr22:30,772,088...30,776,618

choroid plexus papilloma

term browser

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PubMed Reference(s)

RGD Reference(s)

Position

G

tumor protein p53

ClinVar Annotator: match by term: Choroid plexus papilloma | ClinVar Annotator: match by term: PAPILLOMA OF CHOROID PLEXUS | ClinVar Annotator: match by term: Papilloma of choroid plexus

PMID:1565143 PMID:1565144 PMID:1591732 PMID:1631137 PMID:1683921 More...

NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120

epidermodysplasia verruciformis

term browser

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Object Name

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Evidence

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Source

PubMed Reference(s)

RGD Reference(s)

Position

G

transmembrane channel like 6

ClinVar Annotator: match by term: Epidermodysplasia verruciformis

PMID:9536098 PMID:12426567 PMID:15042430 PMID:16199547 PMID:17139267 More...

NCBI chr17:72,183,937...72,205,550
Ensembl chr17:77,742,467...77,757,482

G

transmembrane channel like 8

ClinVar Annotator: match by term: Epidermodysplasia verruciformis

PMID:9536098 PMID:10084299 PMID:12426567 PMID:16045695 PMID:16199547 More...

NCBI chr17:72,204,802...72,218,105
Ensembl chr17:77,759,805...77,771,013

G

trinucleotide repeat containing adaptor 6C

ClinVar Annotator: match by term: Epidermodysplasia verruciformis

NCBI chr17:72,035,737...72,185,489
Ensembl chr17:77,633,564...77,738,511

Epidermodysplasia Verruciformis 1

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

transmembrane channel like 6

susceptibility

ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 1 | ClinVar Annotator: match by term: TMC6-related condition

PMID:9536098 PMID:12426567 PMID:15042430 PMID:16199547 PMID:17139267 More...

NCBI chr17:72,183,937...72,205,550
Ensembl chr17:77,742,467...77,757,482

G

transmembrane channel like 8

ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 1

PMID:9536098 PMID:12426567 PMID:17576681 PMID:22158547 PMID:25741868 More...

NCBI chr17:72,204,802...72,218,105
Ensembl chr17:77,759,805...77,771,013

Epidermodysplasia Verruciformis 2

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

transmembrane channel like 6

ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 2 | ClinVar Annotator: match by term: TMC8-related condition

PMID:9536098 PMID:17576681 PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr17:72,183,937...72,205,550
Ensembl chr17:77,742,467...77,757,482

G

transmembrane channel like 8

susceptibility

ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 2 | ClinVar Annotator: match by term: TMC8-related condition

PMID:9536098 PMID:10084299 PMID:12426567 PMID:16199547 PMID:17576681 More...

NCBI chr17:72,204,802...72,218,105
Ensembl chr17:77,759,805...77,771,013

Epidermodysplasia Verruciformis 3

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

calcium and integrin binding 1

susceptibility

ClinVar Annotator: match by term: CIB1-related condition | ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 3

PMID:228581 PMID:19702156 PMID:20982046 PMID:21196704 PMID:25741868 More...

NCBI chr15:68,919,377...68,923,213

epidermolytic acanthoma

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

keratin 10

ClinVar Annotator: match by term: Epidermolytic acanthoma

PMID:1381287 PMID:7508181 PMID:7509230 PMID:7512983 PMID:21271994 More...

NCBI chr17:16,461,624...16,466,136
Ensembl chr17:16,686,898...16,690,415

G

transmembrane protein 99 (putative)

ClinVar Annotator: match by term: Epidermolytic acanthoma

PMID:1381287 PMID:7508181 PMID:7509230 PMID:7512983 PMID:21271994 More...

NCBI chr17:16,447,929...16,465,165

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 chr10:96,385,534...96,458,571
Ensembl chr10:99,889,160...99,947,270

G

adenylate cyclase activating polypeptide 1

CTD Direct Evidence: marker/mechanism

NCBI chr18:13,414,618...13,421,668
Ensembl chr18:15,713,479...15,717,749

G

alcohol dehydrogenase 1B (class I), beta polypeptide

CTD Direct Evidence: marker/mechanism

NCBI chr 4:91,726,870...91,741,824
Ensembl chr 4:102,388,575...102,435,079

G

ajuba LIM protein

CTD Direct Evidence: marker/mechanism

NCBI chr14:3,791,309...3,802,763
Ensembl chr14:21,889,443...21,900,700

G

AKT serine/threonine kinase 1

disease_progression

protein:increased expression:esophagus (human)

NCBI chr14:85,417,229...85,444,722
Ensembl chr14:105,208,128...105,236,756

G

aldehyde dehydrogenase 2 family member

CTD Direct Evidence: marker/mechanism

PMID:16639733 PMID:22960999

NCBI chr12:109,343,020...109,385,060
Ensembl chr12:112,734,243...112,776,471

G

annexin A1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:51,647,404...51,665,990
Ensembl chr 9:71,929,728...71,948,779

G

ATM serine/threonine kinase

disease_progression

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

NCBI chr11:103,109,979...103,256,405
Ensembl chr11:106,584,228...106,727,041

G

ATPase Na+/K+ transporting subunit beta 2

CTD Direct Evidence: marker/mechanism

NCBI chr17:7,681,831...7,688,710
Ensembl chr17:7,669,626...7,673,834

G

axin 1

disease_progression

protein:decreased expression:esophagus (human)

Ensembl chr16:278,239...337,891

G

antizyme inhibitor 1

NCBI chr 8:99,483,027...99,521,151
Ensembl chr 8:101,639,950...101,678,604

G

beta-2-microglobulin

CTD Direct Evidence: marker/mechanism

NCBI chr15:23,668,108...23,674,791
Ensembl chr15:41,836,345...41,842,991

G

biliverdin reductase B

CTD Direct Evidence: marker/mechanism

NCBI chr19:37,496,344...37,516,127
Ensembl chr19:46,007,321...46,025,120

G

BMI1 proto-oncogene, polycomb ring finger

NCBI chr10:22,477,755...22,487,894
Ensembl chr10:22,857,776...22,863,479

G

bone morphogenetic protein 6

protein:increased expression:esophagus

NCBI chr 6:7,564,164...7,720,341
Ensembl chr 6:7,848,249...8,000,649

G

BRCA1 DNA repair associated

DNA:SNP: :rs799917 (human)

NCBI chr17:14,197,946...14,279,064
Ensembl chr17:14,428,526...14,506,815

G

BRCA2 DNA repair associated

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

NCBI chr13:13,574,422...13,658,967
Ensembl chr13:32,010,066...32,091,332

G

bone marrow stromal cell antigen 2

disease_progression

NCBI chr19:16,890,257...16,892,989
Ensembl chr19:17,863,991...17,866,728

G

BUB1 mitotic checkpoint serine/threonine kinase B

CTD Direct Evidence: marker/mechanism

NCBI chr15:19,095,383...19,155,557
Ensembl chr15:37,350,826...37,410,648

G

carbonic anhydrase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:81,854,390...81,905,728
Ensembl chr 8:83,463,434...83,526,899

G

carbonic anhydrase 12

severity

NCBI chr15:42,270,188...42,328,952
Ensembl chr15:60,565,592...60,624,008

G

carbonic anhydrase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 8:81,991,037...82,009,010
Ensembl chr 8:83,597,440...83,632,580

G

calreticulin

ameliorates

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

PMID:19684620 PMID:21517111 PMID:23814025

RGD:150521679 RGD:150521703

NCBI chr19:12,501,013...12,506,909
Ensembl chr19:13,242,900...13,249,416

G

capping actin protein of muscle Z-line subunit alpha 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:115,273,497...115,324,353
Ensembl chr 1:125,028,519...125,078,892

G

caspase 8

exacerbates

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

NCBI chr2B:88,490,611...88,542,132
Ensembl chr2B:206,669,544...206,696,468

G

chromobox 8

severity

mRNA:increased expression:esophagus:

NCBI chr17:73,874,618...73,877,347
Ensembl chr17:79,410,967...79,413,691

G

coiled-coil alpha-helical rod protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:30,888,542...30,904,382
Ensembl chr 6:31,753,777...31,772,934

G

cyclin D1

CTD Direct Evidence: marker/mechanism

NCBI chr11:64,737,006...64,750,353

G

cyclin dependent kinase inhibitor 1A

CTD Direct Evidence: therapeutic

NCBI chr 6:36,241,405...36,250,032
Ensembl chr 6:37,436,990...37,445,599

G

cyclin dependent kinase inhibitor 2A

CTD Direct Evidence: marker/mechanism

NCBI chr 9:21,803,862...21,831,322

G

cyclin dependent kinase inhibitor 2B

DNA:SNPs: :rs615552, rs573687 (human)

NCBI chr 9:21,838,902...21,845,355
Ensembl chr 9:22,455,662...22,462,156

G

cofilin 1

CTD Direct Evidence: marker/mechanism

NCBI chr11:61,215,092...61,218,628
Ensembl chr11:64,544,275...64,550,806

G

cholinergic receptor nicotinic alpha 5 subunit

susceptibility

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

PMID:23844051 PMID:27610024

RGD:150524358 RGD:151361143

NCBI chr15:57,493,730...57,530,463
Ensembl chr15:76,455,165...76,486,376

G

cholinergic receptor nicotinic beta 4 subunit

mRNA:increased expression:esophagus (human)

NCBI chr15:57,552,697...57,570,828
Ensembl chr15:76,515,455...76,532,712

G

chloride intracellular channel 1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:31,391,958...31,397,920
Ensembl chr 6:32,280,645...32,286,621

G

CLPTM1 like

susceptibility
no_association

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

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

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

Ensembl chr 5:1,361,571...1,388,415

G

collagen type XIV alpha 1 chain

disease_progression

DNA:hypermethylation

NCBI chr 8:116,818,467...117,065,385
Ensembl chr 8:119,610,929...119,831,880

G

cellular retinoic acid binding protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr15:57,269,794...57,277,697
Ensembl chr15:76,234,401...76,242,311

G

CREB binding protein

CTD Direct Evidence: marker/mechanism

NCBI chr16:2,645,445...2,800,975
Ensembl chr16:3,820,519...3,974,206

G

colony stimulating factor 1 receptor

mRNA:decreased expression:esophagus squamous epithelium (human)

NCBI chr 5:145,478,725...145,537,858
Ensembl chr 5:151,483,572...151,517,415

G

cystatin B

CTD Direct Evidence: marker/mechanism

NCBI chr21:30,030,359...30,032,899

G

C-X-C motif chemokine ligand 8

severity

mRNA:increased expression:esophagus (human)

NCBI chr 4:50,452,857...50,456,015
Ensembl chr 4:56,286,708...56,288,083

G

C-X-C motif chemokine receptor 4

disease_progression

protein:increased expression:esophagus squamous epithelium (human)

NCBI chr2B:23,744,271...23,748,106
Ensembl chr2B:140,181,829...140,189,647

G

cytochrome P450 family 1 subfamily A member 1

NCBI chr15:53,664,968...53,672,277
Ensembl chr15:73,284,566...73,290,636

G

cytochrome P450 family 1 subfamily B member 1

protein:increased expression:esophagus (rat)

NCBI chr2A:38,087,863...38,096,529
Ensembl chr2A:38,851,000...38,859,824

G

cytochrome P450 family 24 subfamily A member 1

susceptibility

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

NCBI chr20:50,500,103...50,520,487
Ensembl chr20:51,721,685...51,742,716

G

cytochrome P450 family 26 subfamily B member 1

CTD Direct Evidence: marker/mechanism

NCBI chr2A:72,172,658...72,191,410
Ensembl chr2A:73,670,830...73,686,433

G

DAB2 interacting protein

severity

protein:decreased expression:esophagus (human)

NCBI chr 9:92,696,798...92,912,425
Ensembl chr 9:121,143,457...121,254,336

G

DCC netrin 1 receptor

NCBI chr18:45,717,924...46,913,998
Ensembl chr18:49,268,812...50,255,155

G

death inducer-obliterator 1

CTD Direct Evidence: marker/mechanism

NCBI chr20:59,264,759...59,325,092
Ensembl chr20:60,556,923...60,617,265

G

DNA methyltransferase 3 beta

disease_progression

protein:increased expression:nucleus:

NCBI chr20:29,049,993...29,096,957
Ensembl chr20:30,186,069...30,215,487

G

dipeptidyl peptidase 4

protein:increased expression: esophagus

NCBI chr2B:49,285,685...49,368,056
Ensembl chr2B:166,654,659...166,736,588

G

ephrin B2

severity
ameliorates
exacerbates

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

PMID:17611172 PMID:29190834 PMID:31885720

RGD:153300947 RGD:153300948 RGD:153300949

NCBI chr13:87,629,831...87,675,652
Ensembl chr13:106,770,296...106,815,548

G

epidermal growth factor receptor

severity

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

PMID:10385363 PMID:21947696

NCBI chr 7:55,614,042...55,807,285
Ensembl chr 7:56,046,296...56,111,615

G

euchromatic histone lysine methyltransferase 1

disease_progression

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

PMID:24649311 PMID:24805087

RGD:9589143 RGD:9590071

NCBI chr 9:108,724,568...108,951,077
Ensembl chr 9:137,764,950...137,895,564

G

euchromatic histone lysine methyltransferase 2

disease_progression

protein:increased expression:esophagus mucosa:

NCBI chr 6:31,542,946...31,560,894
Ensembl chr 6:32,429,271...32,451,844

G

E1A binding protein p300

CTD Direct Evidence: marker/mechanism

PMID:17965222 PMID:25151357

NCBI chr22:21,986,467...22,076,921
Ensembl chr22:40,079,503...40,168,604

G

erythrocyte membrane protein band 4.1 like 3

disease_progression

DNA:hypermethylation

NCBI chr18:8,656,684...8,894,170
Ensembl chr18:10,993,680...11,210,416

G

EPH receptor B4

exacerbates

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

NCBI chr 7:92,827,550...92,852,462
Ensembl chr 7:106,223,427...106,248,022

G

erb-b2 receptor tyrosine kinase 4

disease_progression
susceptibility

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

PMID:18000820 PMID:24916311

RGD:126781764 RGD:126781765

NCBI chr2B:98,625,630...99,795,371
Ensembl chr2B:217,069,644...218,272,006

G

ERCC excision repair 1, endonuclease non-catalytic subunit

treatment

NCBI chr19:42,356,039...42,427,754
Ensembl chr19:50,951,674...50,968,430

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

disease_progression

PMID:21165554 PMID:25613619

RGD:126781697 RGD:126781701

NCBI chr 7:140,536,962...140,613,104
Ensembl chr 7:153,017,590...153,059,726

G

FA complementation group A

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

NCBI chr16:70,495,310...70,579,275
Ensembl chr16:90,163,950...90,245,147

G

fibroblast activation protein alpha

protein:increased expression: esophagus

NCBI chr2B:49,464,199...49,537,284
Ensembl chr2B:166,832,963...166,904,950

G

fatty acid synthase

CTD Direct Evidence: marker/mechanism

NCBI chr17:76,483,108...76,503,148
Ensembl chr17:82,187,516...82,205,647

G

FAT atypical cadherin 1

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

PMID:24590895 PMID:25151357 PMID:29365412

RGD:151347630 RGD:151347646

NCBI chr 4:178,752,261...178,895,038
Ensembl chr 4:190,952,737...191,093,357

G

FAT atypical cadherin 2

CTD Direct Evidence: marker/mechanism

NCBI chr 5:146,927,558...147,014,920
Ensembl chr 5:152,932,400...152,995,784

G

FAT atypical cadherin 3

CTD Direct Evidence: marker/mechanism

NCBI chr11:87,242,937...87,921,955

G

FAT atypical cadherin 4

CTD Direct Evidence: marker/mechanism

NCBI chr 4:117,494,842...117,674,382
Ensembl chr 4:128,637,516...128,814,407

G

F-box and WD repeat domain containing 7

CTD Direct Evidence: marker/mechanism

NCBI chr 4:144,660,676...144,874,404
Ensembl chr 4:156,312,274...156,402,351

G

FES proto-oncogene, tyrosine kinase

exacerbates

DNA:hypermethylation: (human)

NCBI chr15:69,576,936...69,588,834
Ensembl chr15:88,774,965...88,786,965

G

fibroblast growth factor receptor 4

treatment

NCBI chr 5:172,386,443...172,400,271
Ensembl chr 5:179,454,995...179,467,605

G

FKBP prolyl isomerase 1A

CTD Direct Evidence: marker/mechanism

NCBI chr20:1,519,330...1,548,473

G

forkhead box A1

onset

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

PMID:27050876 PMID:29788741

RGD:151665743 RGD:151665759

NCBI chr14:18,347,284...18,352,705

G

far upstream element binding protein 1

exacerbates

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

PMID:26490982 PMID:32481602

RGD:151361192 RGD:151361197

NCBI chr 1:77,162,675...77,198,486

G

GDP dissociation inhibitor 2

CTD Direct Evidence: marker/mechanism

NCBI chr10:5,806,336...5,854,676
Ensembl chr10:5,789,496...5,839,003

G

glyoxalase I

CTD Direct Evidence: marker/mechanism

NCBI chr 6:38,247,881...38,275,098
Ensembl chr 6:39,434,746...39,461,971

G

glutathione peroxidase 3

disease_progression

DNA:hypermethylation

PMID:25050929 PMID:30018730

RGD:151665494 RGD:151665741

NCBI chr 5:146,447,939...146,456,476

G

growth factor receptor bound protein 7

exacerbates

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

PMID:10797316 PMID:26465158

RGD:151347654 RGD:151347661

NCBI chr17:17,541,771...17,551,049
Ensembl chr17:17,758,992...17,768,290

G

glutathione S-transferase mu 1

no_association

PMID:11860825 PMID:17916905 PMID:25432134

RGD:14700943 RGD:14700948 RGD:14700982

Ensembl chr 1:127,979,238...128,010,411

G

glutathione S-transferase omega 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:100,853,682...100,866,892
Ensembl chr10:104,313,024...104,325,733

G

glutathione S-transferase pi 1

DNA:polymorphism: :p.I105V (human)

NCBI chr11:62,942,756...62,945,701
Ensembl chr11:66,253,421...66,256,472

G

hypoxia inducible factor 1 subunit alpha

CTD Direct Evidence: marker/mechanism

NCBI chr14:42,295,691...42,348,478
Ensembl chr14:60,552,374...60,604,885

G

high mobility group box 1

CTD Direct Evidence: marker/mechanism

NCBI chr13:11,737,942...11,894,923
Ensembl chr13:30,174,899...30,179,527

G

high mobility group nucleosome binding domain 5

CTD Direct Evidence: marker/mechanism

NCBI chr X:70,180,585...70,268,545

G

homeobox B7

severity

protein:increased expression:esophageal mucosa (human)

NCBI chr17:8,925,717...8,929,523
Ensembl chr17:9,110,864...9,114,639

G

heat shock protein family A (Hsp70) member 5

CTD Direct Evidence: marker/mechanism

NCBI chr 9:96,351,645...96,356,761
Ensembl chr 9:124,865,211...124,870,458

G

HtrA serine peptidase 1

exacerbates
ameliorates

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

NCBI chr10:119,030,409...119,083,682
Ensembl chr10:122,441,098...122,494,733

G

isocitrate dehydrogenase (NADP(+)) 2

severity

human cells in mouse model

NCBI chr15:68,771,050...68,790,523
Ensembl chr15:87,972,889...87,991,276

G

Janus kinase 2

severity

protein:increased phosphorylation:esophagus squamous epithelium (human)

NCBI chr 9:4,820,303...4,971,867
Ensembl chr 9:5,006,271...5,156,626

G

JunB proto-oncogene, AP-1 transcription factor subunit

exacerbates

protein:increased expression:esophagus (human)

PMID:19758438 PMID:30227324

RGD:151347669 RGD:151347672

NCBI chr19:12,353,760...12,355,598
Ensembl chr19:13,097,931...13,098,974

G

lysine acetyltransferase 2B

mRNA:decreased expression:esophagus (human)

NCBI chr 3:19,956,067...20,070,637
Ensembl chr 3:20,286,865...20,400,770

G

lysine demethylase 4C

severity
susceptibility

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

PMID:15805246 PMID:24224128

RGD:9587746 RGD:9587752

NCBI chr 9:6,568,569...6,978,741
Ensembl chr 9:6,746,265...7,155,298

G

lysine demethylase 5B

severity

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

NCBI chr 1:178,323,073...178,406,608
Ensembl chr 1:182,622,425...182,702,994

G

lysine demethylase 6A

ameliorates

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

PMID:25151357 PMID:29351209 PMID:31804468

RGD:150429739 RGD:150429742 RGD:9588233

NCBI chr X:37,313,000...37,548,630
Ensembl chr X:45,127,382...45,362,029

G

lysine methyltransferase 2C

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

NCBI chr 7:143,714,716...144,016,188
Ensembl chr 7:155,862,610...156,081,043

G

lysine methyltransferase 2D

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

PMID:25151357 PMID:29532228

RGD:150521712 RGD:9588233

NCBI chr12:39,689,463...39,731,904
Ensembl chr12:40,575,083...40,608,661

G

keratin 16

NCBI chr17:15,704,348...15,707,328
Ensembl chr17:15,922,924...15,929,437

G

keratin 19

CTD Direct Evidence: marker/mechanism

NCBI chr17:15,788,355...15,793,127
Ensembl chr17:16,006,608...16,010,782

G

keratin 7

disease_progression

NCBI chr12:36,514,021...36,529,721
Ensembl chr12:37,291,244...37,307,341

G

sulfotransferase 1A1

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

G

keratin, type I cytoskeletal 14

CTD Direct Evidence: marker/mechanism

NCBI chr17:15,730,066...15,734,665
Ensembl chr17:15,948,596...15,953,191

G

keratin, type I cytoskeletal 17

CTD Direct Evidence: marker/mechanism

NCBI chr17:15,692,319...15,697,455
Ensembl chr17:15,910,899...15,916,079

G

neuronal acetylcholine receptor subunit alpha-7

disease_progression
exacerbates

mRNA:increased expression:esophagus (human)

PMID:27610024 PMID:33603170

RGD:151361143 RGD:151667905

NCBI chr15:10,525,535...10,667,227
Ensembl chr15:29,565,885...29,705,194

G

keratin, type I cytoskeletal 13

CTD Direct Evidence: marker/mechanism

NCBI chr17:15,811,095...15,815,783
Ensembl chr17:16,028,747...16,033,434

G

zinc-alpha-2-glycoprotein

disease_progression

NCBI chr 7:91,999,717...92,009,066
Ensembl chr 7:105,432,782...105,442,219

G

tenascin-X

CTD Direct Evidence: marker/mechanism

NCBI chr 6:31,687,994...31,756,279
Ensembl chr 6:32,571,199...32,626,155

G

lysyl oxidase like 2

CTD Direct Evidence: marker/mechanism

NCBI chr 8:22,547,303...22,653,676
Ensembl chr 8:19,483,335...19,589,522

G

lymphotoxin alpha

CTD Direct Evidence: marker/mechanism

NCBI chr 6:31,233,411...31,235,409
Ensembl chr 6:32,123,353...32,125,375

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 chr 8:19,471,361...19,529,437
Ensembl chr 8:16,418,496...16,476,111

G

mitotic arrest deficient 2 like 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:112,247,808...112,255,202
Ensembl chr 4:123,397,355...123,405,535

G

mitogen-activated protein kinase kinase kinase 1

sexual_dimorphism

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

NCBI chr 5:57,116,405...57,197,017
Ensembl chr 5:58,745,579...58,826,959

G

methyl-CpG binding domain 4, DNA glycosylase

susceptibility

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

PMID:15205355 PMID:25162968

RGD:9588976 RGD:9588980

NCBI chr 3:126,489,125...126,498,034
Ensembl chr 3:133,839,643...133,851,450

G

O-6-methylguanine-DNA methyltransferase

disease_progression

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

PMID:21674174 PMID:25520135

NCBI chr10:126,059,701...126,365,850
Ensembl chr10:130,305,485...130,609,422

G

mutL homolog 1

disease_progression

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

NCBI chr 3:36,899,828...36,957,076
Ensembl chr 3:37,189,439...37,245,801

G

matrix metallopeptidase 14

protein:increased expression: esophagus

NCBI chr14:3,654,125...3,665,158
Ensembl chr14:21,753,305...21,764,058

G

matrix metallopeptidase 2

protein:increased activity: esophagus

NCBI chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279

G

matrix metallopeptidase 9

protein:increased activity: esophagus

NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129

G

mutS homolog 2

disease_progression

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

PMID:21674174 PMID:22265839 PMID:24366688

RGD:126790560 RGD:126790573 RGD:126790574

NCBI chr2A:47,524,468...47,602,376
Ensembl chr2A:48,447,207...48,554,461

G

metallothionein 1X

CTD Direct Evidence: marker/mechanism

NCBI chr16:36,959,854...36,961,632
Ensembl chr16:56,092,218...56,093,976

G

NFE2 like bZIP transcription factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr2B:64,509,446...64,544,600
Ensembl chr2B:182,214,116...182,248,085

G

notch receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:107,568,670...107,621,032
Ensembl chr 9:136,544,639...136,598,740

G

notch receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:82,457,829...82,615,142
Ensembl chr 1:117,538,243...117,612,840

G

notch receptor 3

CTD Direct Evidence: marker/mechanism

NCBI chr19:14,692,571...14,733,758
Ensembl chr19:15,678,674...15,715,080

G

8-oxoguanine DNA glycosylase

CTD Direct Evidence: marker/mechanism

NCBI chr 3:9,702,311...9,742,283
Ensembl chr 3:9,940,955...9,947,335

G

PAXIP1 associated glutamate rich protein 1

mRNA, protein:decreased expression:esophagus (human)

Ensembl chr16:30,186,326...30,190,654

G

PBX homeobox 3

RNA:increased expression:esophagus squamous epithelium (human)

NCBI chr 9:96,867,140...97,089,205
Ensembl chr 9:125,379,489...125,598,178

G

profilin 1

CTD Direct Evidence: marker/mechanism

NCBI chr17:4,993,853...4,996,811
Ensembl chr17:4,981,765...4,985,022

G

phospholipase C epsilon 1

CTD Direct Evidence: marker/mechanism

PMID:20729852 PMID:20729853

NCBI chr10:90,731,695...91,065,846
Ensembl chr10:94,278,550...94,575,024

G

peroxiredoxin 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:44,813,508...44,824,430
Ensembl chr 1:46,171,453...46,182,018

G

proteasome 20S subunit beta 9

disease_progression

NCBI chr 6:32,423,614...32,429,062
Ensembl chr 6:33,539,060...33,564,402

G

proteasome activator subunit 1

CTD Direct Evidence: marker/mechanism

NCBI chr14:4,912,390...4,915,219
Ensembl chr14:23,033,548...23,039,405

G

proteasome activator subunit 2

CTD Direct Evidence: marker/mechanism

NCBI chr14:4,919,628...4,922,952
Ensembl chr14:23,043,807...23,047,296

G

patched 1

disease_progression

NCBI chr 9:66,542,675...66,616,820
Ensembl chr 9:94,668,365...94,741,453

G

prostaglandin-endoperoxide synthase 2

CTD Direct Evidence: marker/mechanism

PMID:15756444 PMID:16543248 PMID:18197933

NCBI chr 1:162,205,534...162,214,130
Ensembl chr 1:166,355,845...166,364,519

G

protein tyrosine phosphatase receptor type T

susceptibility

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

NCBI chr20:38,399,267...39,526,776
Ensembl chr20:39,502,794...40,317,701

G

RB transcriptional corepressor 1

CTD Direct Evidence: marker/mechanism

NCBI chr13:29,453,872...29,624,665
Ensembl chr13:48,155,795...48,324,575

G

RPTOR independent companion of MTOR complex 2

severity
disease_progression

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

PMID:28132115 PMID:30119206 PMID:32642408

RGD:152995460 RGD:152995470 RGD:152995512

NCBI chr 5:71,299,215...71,435,290
Ensembl chr 5:76,389,130...76,469,830

G

ring finger protein 6

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

NCBI chr13:7,505,669...7,515,542
Ensembl chr13:25,854,765...25,864,629

G

RUNX family transcription factor 2

mRNA:increased expression:esophagus mucosa

NCBI chr 6:45,003,962...45,133,148
Ensembl chr 6:46,189,432...46,524,389

G

RUNX family transcription factor 3

disease_progression

mRNA:decreased expression:esophagus mucosa

NCBI chr 1:24,097,321...24,164,065
Ensembl chr 1:25,073,134...25,137,335

G

spalt like transcription factor 4

CTD Direct Evidence: marker/mechanism

NCBI chr20:48,130,387...48,150,569
Ensembl chr20:49,254,039...49,273,589

G

SET domain containing 5

disease_progression

NCBI chr 3:9,350,026...9,430,760
Ensembl chr 3:9,592,517...9,672,306

G

stratifin

CTD Direct Evidence: marker/mechanism

NCBI chr 1:26,126,212...26,127,761
Ensembl chr 1:27,182,834...27,183,580

G

solute carrier family 16 member 10

protein:increased expression:esophagus

NCBI chr 6:108,889,644...109,037,479
Ensembl chr 6:112,968,668...113,106,721

G

solute carrier family 1 member 5

disease_progression

protein:increased expression:esophagus

PMID:26936531 PMID:33609949

RGD:11532833 RGD:151361149

NCBI chr19:43,765,001...43,778,981
Ensembl chr19:52,294,655...52,307,529

G

solute carrier family 39 member 6

CTD Direct Evidence: therapeutic

NCBI chr18:29,361,261...29,382,115
Ensembl chr18:32,919,878...32,940,694

G

solute carrier family 52 member 3

CTD Direct Evidence: marker/mechanism

NCBI chr20:970,380...986,368
Ensembl chr20:739,556...755,486

G

solute carrier family 7 member 5

disease_progression

protein:increased expression:esophagus

PMID:26936531 PMID:31726270 PMID:33609949

RGD:11532833 RGD:151361144 RGD:151361149

NCBI chr16:68,512,407...68,552,763

G

suppressor of cytokine signaling 1

severity
treatment

mRNA:decreased expression:esophagus

PMID:21385099 PMID:28233302 PMID:31728180

RGD:150573691 RGD:150573812 RGD:150573815

NCBI chr16:10,196,432...10,198,205

G

superoxide dismutase 2

CTD Direct Evidence: marker/mechanism

PMID:18167182 PMID:21517111

NCBI chr 6:157,562,814...157,610,155
Ensembl chr 6:162,576,082...162,589,960

G

SRY-box transcription factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 3:178,744,881...178,747,392
Ensembl chr 3:186,922,705...186,923,662

G

spen family transcriptional repressor

associated with Neoplasm Metastasis; DNA:mutations

NCBI chr 1:14,987,415...15,079,477
Ensembl chr 1:16,004,473...16,072,585

G

stromal interaction molecule 1

exacerbates

protein:increased expression:esophagus (human)

NCBI chr11:3,726,501...3,954,951
Ensembl chr11:3,840,513...4,065,224

G

stimulator of interferon response cGAMP interactor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:134,845,689...134,852,938
Ensembl chr 5:140,967,399...140,973,846

G

transgelin

CTD Direct Evidence: marker/mechanism

NCBI chr11:112,033,257...112,038,749
Ensembl chr11:115,966,516...115,972,129

G

transporter 1, ATP binding cassette subfamily B member

protein:decreased expression:esophagus

NCBI chr 6:32,414,665...32,423,488
Ensembl chr 6:33,530,171...33,538,978

G

transporter 2, ATP binding cassette subfamily B member

protein:decreased expression:esophagus

NCBI chr 6:32,394,586...32,408,297
Ensembl chr 6:33,507,332...33,523,750

G

transcobalamin 2

CTD Direct Evidence: marker/mechanism

NCBI chr22:11,635,107...11,655,137
Ensembl chr22:29,435,517...29,455,494

G

telomerase reverse transcriptase

susceptibility
no_association

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

PMID:15112252 PMID:25007268 PMID:26716642

RGD:11572962 RGD:150530488 RGD:152977757

Ensembl chr 5:1,300,960...1,338,872

G

tet methylcytosine dioxygenase 2

severity

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

PMID:26093090 PMID:26873401 PMID:27050164

RGD:11528815 RGD:150429656 RGD:150429668

NCBI chr 4:97,612,439...97,745,544
Ensembl chr 4:108,269,082...108,358,400

G

tet methylcytosine dioxygenase 3

mRNA:decreased expression:esophagus squamous epithelium (human)

NCBI chr2A:74,058,948...74,180,046
Ensembl chr2A:75,568,636...75,682,701

G

transforming growth factor beta receptor 2

NCBI chr 3:30,536,187...30,623,653
Ensembl chr 3:30,854,460...30,938,856

G

TNF alpha induced protein 3

severity

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

NCBI chr 6:135,617,465...135,634,085
Ensembl chr 6:139,705,255...139,720,819

G

TNF alpha induced protein 8

CTD Direct Evidence: marker/mechanism

NCBI chr 5:114,657,140...114,784,819
Ensembl chr 5:120,442,500...120,569,877

G

tumor protein p53

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

PMID:16543248 PMID:25151357 PMID:28789369

NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120

G

triosephosphate isomerase 1

CTD Direct Evidence: marker/mechanism

NCBI chr12:6,999,275...7,002,678
Ensembl chr12:6,910,813...6,913,612

G

tropomyosin 1

CTD Direct Evidence: marker/mechanism

NCBI chr15:41,989,239...42,018,520
Ensembl chr15:60,286,587...60,315,530

G

tropomyosin 2

CTD Direct Evidence: marker/mechanism

NCBI chr 9:35,533,982...35,542,033
Ensembl chr 9:36,336,307...36,345,394

G

thioredoxin domain containing 17

CTD Direct Evidence: marker/mechanism

NCBI chr17:6,678,375...6,680,902
Ensembl chr17:6,666,067...6,668,475

G

thymidine phosphorylase

CTD Direct Evidence: marker/mechanism

NCBI chr22:30,772,088...30,776,618

G

ubiquitin specific peptidase 8

CTD Direct Evidence: marker/mechanism

NCBI chr15:29,374,945...29,451,235
Ensembl chr15:47,713,997...47,790,624

G

VENT homeobox

CTD Direct Evidence: marker/mechanism

Ensembl chr10:134,144,411...134,149,277

G

WD repeat containing antisense to TP53

disease_progression

NCBI chr17:7,715,897...7,735,873
Ensembl chr17:7,707,221...7,723,394

G

WW domain containing oxidoreductase

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

PMID:11956080 PMID:16199547 PMID:24456803 PMID:25411445 PMID:25558065 More...

NCBI chr16:58,689,609...59,800,333
Ensembl chr16:78,125,302...79,231,546

G

exportin 1

exacerbates

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

PMID:24898882 PMID:25148895

RGD:151667431 RGD:151667436

NCBI chr2A:61,562,372...61,622,841
Ensembl chr2A:62,698,935...62,757,793

G

X-ray repair cross complementing 1

susceptibility
no_association
treatment

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

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

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

NCBI chr19:40,485,052...40,522,188
Ensembl chr19:49,094,014...49,125,520

G

zinc finger CCHC-type containing 12

CTD Direct Evidence: marker/mechanism

NCBI chr X:107,831,784...107,834,964
Ensembl chr X:118,299,326...118,300,534

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

ClinVar Annotator: match by term: Ferguson-Smith type epithelioma | ClinVar Annotator: match by term: Multiple self-healing squamous epithelioma

PMID:2511639 PMID:2647812 PMID:5173258 PMID:8499949 PMID:9536098 More...

NCBI chr 9:70,195,007...70,243,514
Ensembl chr 9:98,332,739...98,362,748

focal nonepidermolytic palmoplantar keratoderma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

keratin 16

ClinVar Annotator: match by term: Palmoplantar keratoderma, nonepidermolytic, focal

PMID:8595410 PMID:16250206 PMID:22336941 PMID:24611874 PMID:25741868 More...

NCBI chr17:15,704,348...15,707,328
Ensembl chr17:15,922,924...15,929,437

G

keratin 6C

ClinVar Annotator: match by term: Focal palmoplantar keratoderma

NCBI chr12:36,290,422...36,295,663

G

spermatogenesis associated 22

ClinVar Annotator: match by term: Isolated focal non-epidermolytic palmoplantar keratoderma

NCBI chr17:3,120,296...3,532,343
Ensembl chr17:3,489,143...3,560,654

G

transient receptor potential cation channel subfamily V member 3

ClinVar Annotator: match by term: Isolated focal non-epidermolytic palmoplantar keratoderma

PMID:9536098 PMID:17576681 PMID:21285946 PMID:24452206 PMID:25285920 More...

NCBI chr17:3,528,734...3,577,162
Ensembl chr17:3,516,209...3,603,787

focal nonepidermolytic palmoplantar keratoderma 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

keratin 16

ClinVar Annotator: match by term: Palmoplantar keratoderma, nonepidermolytic, focal 1

PMID:8595410 PMID:16250206 PMID:22336941 PMID:22668561 PMID:24491404 More...

NCBI chr17:15,704,348...15,707,328
Ensembl chr17:15,922,924...15,929,437

focal nonepidermolytic palmoplantar keratoderma 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

transient receptor potential cation channel subfamily V member 3

ClinVar Annotator: match by term: Palmoplantar keratoderma, nonepidermolytic, focal 2 | ClinVar Annotator: match by term: TRPV3-related condition

PMID:25741868 PMID:28492532

NCBI chr17:3,528,734...3,577,162
Ensembl chr17:3,516,209...3,603,787

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

NCBI chr17:7,715,897...7,735,873
Ensembl chr17:7,707,221...7,723,394

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 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:79,497,536...79,706,277
Ensembl chr 7:93,147,950...93,243,238

G

ATP binding cassette subfamily C member 1 (ABCC1 blood group)

CTD Direct Evidence: marker/mechanism

G

ATP binding cassette subfamily C member 2

CTD Direct Evidence: marker/mechanism

NCBI chr10:96,385,534...96,458,571
Ensembl chr10:99,889,160...99,947,270

G

ATP binding cassette subfamily G member 2 (JR blood group)

CTD Direct Evidence: marker/mechanism

NCBI chr 4:80,379,108...80,446,641
Ensembl chr 4:91,101,321...91,170,157

G

ABL proto-oncogene 1, non-receptor tyrosine kinase

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

NCBI chr 9:101,834,189...102,005,811
Ensembl chr 9:130,484,333...130,652,941

G

aconitate decarboxylase 1

mRNA:increased expression:cranioceervical (human)

NCBI chr13:58,166,872...58,176,146
Ensembl chr13:77,211,430...77,222,201

G

AKT serine/threonine kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr14:85,417,229...85,444,722
Ensembl chr14:105,208,128...105,236,756

G

ankyrin repeat domain 17

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

NCBI chr 4:50,939,013...51,124,185
Ensembl chr 4:56,770,798...57,439,365

G

ATPase copper transporting beta

CTD Direct Evidence: marker/mechanism

NCBI chr13:33,063,698...33,144,528
Ensembl chr13:51,810,555...51,851,839

G

beta-2-microglobulin

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 chr15:23,668,108...23,674,791
Ensembl chr15:41,836,345...41,842,991

G

baculoviral IAP repeat containing 2

exacerbates

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

NCBI chr11:97,298,736...97,324,966
Ensembl chr11:100,793,036...100,822,421

G

baculoviral IAP repeat containing 3

ameliorates

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

NCBI chr11:97,269,778...97,290,112
Ensembl chr11:100,763,274...100,785,194

G

B-Raf proto-oncogene, serine/threonine kinase

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

NCBI chr 7:132,651,908...132,855,422
Ensembl chr 7:145,138,510...145,327,115

G

caspase 8

CTD Direct Evidence: marker/mechanism

NCBI chr2B:88,490,611...88,542,132
Ensembl chr2B:206,669,544...206,696,468

G

coiled-coil domain containing 3

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

NCBI chr10:12,901,592...13,104,528
Ensembl chr10:12,875,678...13,025,280

G

cyclin A1

CTD Direct Evidence: marker/mechanism

PMID:23358896 PMID:29464035

NCBI chr13:17,649,064...17,660,550
Ensembl chr13:36,080,331...36,092,078

G

cyclin A2

CTD Direct Evidence: marker/mechanism

NCBI chr 4:114,016,917...114,024,816
Ensembl chr 4:125,153,810...125,161,302

G

cyclin B1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:44,826,103...44,836,832
Ensembl chr 5:46,394,362...46,405,332

G

cyclin D1

disease_progression

CTD Direct Evidence: marker/mechanism

PMID:9796972 PMID:26909611 PMID:29464035

NCBI chr11:64,737,006...64,750,353

G

cyclin E1

CTD Direct Evidence: marker/mechanism

NCBI chr19:26,739,285...26,751,630
Ensembl chr19:35,496,700...35,510,295

G

cyclin E2

CTD Direct Evidence: marker/mechanism

NCBI chr 8:91,499,647...91,518,488
Ensembl chr 8:93,702,104...93,717,151

G

cell division cycle 73

exacerbates

protein:increased expression:squamous epithelium (human)

NCBI chr 1:168,581,730...168,710,915
Ensembl chr 1:172,875,365...173,004,934

G

cyclin dependent kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chr12:32,940,225...32,946,236
Ensembl chr12:33,189,934...33,195,945

G

cyclin dependent kinase 4

CTD Direct Evidence: marker/mechanism

NCBI chr12:31,174,446...31,178,597
Ensembl chr12:31,434,594...31,438,876

G

cyclin dependent kinase 6

CTD Direct Evidence: marker/mechanism

NCBI chr 7:84,603,419...84,835,082

G

cyclin dependent kinase inhibitor 2A

disease_progression

DNA:SNPs: :rs3731217, rs3088440 (human)
ClinVar Annotator: match by term: Lip and oral cavity carcinoma

PMID:7718873 PMID:8153634 PMID:8668202 PMID:9166859 PMID:11687599 More...

NCBI chr 9:21,803,862...21,831,322

G

chromodomain helicase DNA binding protein 4

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

NCBI chr12:6,701,004...6,738,621
Ensembl chr12:6,619,089...6,656,076

G

claudin 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:187,328,629...187,345,360
Ensembl chr 3:195,882,239...195,899,248

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 chr16:2,645,445...2,800,975
Ensembl chr16:3,820,519...3,974,206

G

catenin beta 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:41,104,940...41,145,934
Ensembl chr 3:41,373,726...41,414,030

G

cytochrome P450 family 2 subfamily C member 19

treatment

DNA:polymorphisms: :CYP2C19*2(human)

NCBI chr10:91,375,255...91,465,215
Ensembl chr10:94,884,472...94,970,065

G

cytochrome P450 family 2 subfamily C member 9

treatment

DNA:polymorphisms: :CYP2C9*2(human)

NCBI chr10:91,547,865...91,598,918
Ensembl chr10:95,022,482...95,105,653

G

discoidin domain receptor tyrosine kinase 2

severity

NCBI chr 1:138,048,730...138,200,426
Ensembl chr 1:141,932,158...141,990,766

G

DNA methyltransferase 3 beta

susceptibility

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

NCBI chr20:29,049,993...29,096,957
Ensembl chr20:30,186,069...30,215,487

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 chr 7:55,614,042...55,807,285
Ensembl chr 7:56,046,296...56,111,615

G

erb-b2 receptor tyrosine kinase 2

disease_progression

NCBI chr17:17,560,337...17,600,808
Ensembl chr17:17,777,434...17,805,862

G

erb-b2 receptor tyrosine kinase 4

severity

NCBI chr2B:98,625,630...99,795,371
Ensembl chr2B:217,069,644...218,272,006

G

FA complementation group B

DNA:hypermethylation:promoter

NCBI chr X:7,470,574...7,500,958
Ensembl chr X:14,752,934...14,781,817

G

FA complementation group D2

NCBI chr 3:9,932,292...10,037,332
Ensembl chr 3:10,312,476...10,389,190

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 chr 4:1,933,172...1,948,742
Ensembl chr 4:1,843,774...1,861,692

G

fibroblast growth factor receptor 4

severity

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

NCBI chr 5:172,386,443...172,400,271
Ensembl chr 5:179,454,995...179,467,605

G

fragile histidine triad diadenosine triphosphatase

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

NCBI chr 3:59,670,777...61,177,974

G

glutamate ionotropic receptor kainate type subunit 2

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

NCBI chr 6:98,720,430...99,903,582
Ensembl chr 6:103,334,707...103,783,092

G

homeobox A5

CTD Direct Evidence: marker/mechanism

NCBI chr 7:27,786,040...27,789,339
Ensembl chr 7:27,385,175...27,388,990

G

homeobox D10

CTD Direct Evidence: marker/mechanism

NCBI chr2B:63,395,636...63,399,704
Ensembl chr2B:181,104,876...181,110,963

G

homeobox D11

CTD Direct Evidence: marker/mechanism

NCBI chr2B:63,386,806...63,398,777

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 chr11:537,488...540,810
Ensembl chr11:568,305...571,078

G

interferon lambda 3

CTD Direct Evidence: therapeutic

NCBI chr19:36,341,396...36,343,261

G

insulin like growth factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr12:99,986,887...100,066,773
Ensembl chr12:103,385,911...103,462,177

G

interleukin 1 alpha

CTD Direct Evidence: marker/mechanism

NCBI chr2A:89,273,482...89,284,421
Ensembl chr2A:113,784,854...113,795,801

G

interleukin 1 receptor accessory protein

CTD Direct Evidence: marker/mechanism

NCBI chr 3:187,535,880...187,680,628
Ensembl chr 3:196,089,208...196,231,379

G

interleukin 2

PMID:2787951 PMID:3263896

RGD:8662923 RGD:8662971

NCBI chr 4:114,637,328...114,642,586
Ensembl chr 4:125,782,563...125,787,984

G

inhibitor of growth family member 1

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

NCBI chr13:91,849,153...91,856,943
Ensembl chr13:110,963,405...110,970,691

G

insulin receptor substrate 1

CTD Direct Evidence: marker/mechanism

NCBI chr2B:113,973,191...114,041,127
Ensembl chr2B:232,849,239...232,852,967

G

JunB proto-oncogene, AP-1 transcription factor subunit

ameliorates

human cell line in a mouse model

NCBI chr19:12,353,760...12,355,598
Ensembl chr19:13,097,931...13,098,974

G

KiSS-1 metastasis suppressor

CTD Direct Evidence: therapeutic

G

KIT proto-oncogene, receptor tyrosine kinase

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

PMID:22703879 PMID:24728327 PMID:25741868 PMID:28492532 PMID:31775759

NCBI chr 4:69,199,543...69,282,323
Ensembl chr 4:75,761,946...75,844,473

G

ligand of numb-protein X 1

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

NCBI chr 4:70,374,106...70,497,058
Ensembl chr 4:76,911,082...77,050,270

G

cytochrome P450 2D6-like

treatment

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

NCBI chr22:23,022,449...23,031,627

G

contactin-4

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

NCBI chr 3:2,037,293...2,998,793
Ensembl chr 3:2,616,432...3,101,786

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 chr11:514,227...559,838
Ensembl chr11:575,495...588,750

G

O-6-methylguanine-DNA methyltransferase

CTD Direct Evidence: marker/mechanism

NCBI chr10:126,059,701...126,365,850
Ensembl chr10:130,305,485...130,609,422

G

matrix metallopeptidase 2

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

NCBI chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279

G

NLR family apoptosis inhibitory protein

ameliorates

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

NCBI chr 5:44,345,623...44,401,358
Ensembl chr 5:45,920,125...45,973,937

G

nicotinamide phosphoribosyltransferase

CTD Direct Evidence: marker/mechanism

NCBI chr 7:98,227,071...98,262,254
Ensembl chr 7:110,952,876...110,981,967

G

N-myc downstream regulated 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:129,891,918...129,952,489
Ensembl chr 8:132,866,245...132,926,514

G

NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL

CTD Direct Evidence: marker/mechanism

NCBI chr X:142,405,340...142,443,723
Ensembl chr X:152,324,553...152,362,931

G

8-oxoguanine DNA glycosylase

susceptibility

DNA:SNP: :rs1052133 (human)

PMID:21727658 PMID:22081374

RGD:8657144 RGD:8657147

NCBI chr 3:9,702,311...9,742,283
Ensembl chr 3:9,940,955...9,947,335

G

phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit 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
ClinVar Annotator: match by term: Lip and oral cavity carcinoma

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

NCBI chr 3:176,182,765...176,272,024
Ensembl chr 3:184,355,785...184,441,977

G

protein phosphatase 2 scaffold subunit Aalpha

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

NCBI chr19:49,133,295...49,169,447
Ensembl chr19:58,011,383...58,047,577

G

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

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

NCBI chr 8:64,489,817...64,769,602
Ensembl chr 8:66,215,974...66,430,138

G

phosphatase and tensin homolog

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:11801303 PMID:24033266 PMID:24055113 PMID:25741868 PMID:25980754 More...

NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605

G

prostaglandin-endoperoxide synthase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:162,205,534...162,214,130
Ensembl chr 1:166,355,845...166,364,519

G

protein tyrosine phosphatase non-receptor type 13

susceptibility

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

PMID:19672627 PMID:19892796

RGD:152176661 RGD:152176665

NCBI chr 4:78,893,598...79,118,745
Ensembl chr 4:89,623,271...89,847,616

G

RAS guanyl releasing protein 3

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

NCBI chr2A:33,444,941...33,572,829
Ensembl chr2A:34,196,421...34,284,307

G

RB transcriptional corepressor 1

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

NCBI chr13:29,453,872...29,624,665
Ensembl chr13:48,155,795...48,324,575

G

sterile alpha motif domain containing 4A

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

NCBI chr14:35,153,002...35,380,018
Ensembl chr14:53,566,636...53,654,151

G

serpin family E member 1

severity

protein:increased expression:oral mucosa (human)

NCBI chr 7:93,267,517...93,279,728
Ensembl chr 7:106,510,130...106,518,450

G

SMAD family member 4

NCBI chr18:44,402,112...44,456,779
Ensembl chr18:47,764,568...47,797,359

G

syntrophin beta 1

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

NCBI chr 8:117,225,128...117,501,899
Ensembl chr 8:119,996,149...120,268,188

G

superoxide dismutase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 6:157,562,814...157,610,155
Ensembl chr 6:162,576,082...162,589,960

G

signal transducer and activator of transcription 3

treatment

CTD Direct Evidence: marker/mechanism

PMID:24395569 PMID:27064016

NCBI chr17:14,928,689...15,003,644
Ensembl chr17:15,152,358...15,227,067

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

Ensembl chr19:1,188,537...1,210,677

G

TNF receptor superfamily member 10a

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

NCBI chr 8:22,440,502...22,476,790
Ensembl chr 8:19,378,547...19,414,724

G

TNF receptor superfamily member 10b

ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck | ClinVar Annotator: match by term: TNFRSF10B-related condition

PMID:25741868 PMID:28492532

NCBI chr 8:22,270,325...22,318,841
Ensembl chr 8:19,209,904...19,258,498

G

tumor protein p53

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 chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120

G

vesicle associated membrane protein 7

CTD Direct Evidence: marker/mechanism

NCBI chr X:145,362,432...145,425,097
Ensembl chr X:155,257,185...155,320,215

G

WEE1 G2 checkpoint kinase

CTD Direct Evidence: marker/mechanism

NCBI chr11:9,706,531...9,722,528

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:21081529 RGD:21081533

NCBI chr17:7,715,897...7,735,873
Ensembl chr17:7,707,221...7,723,394

G

Yes1 associated transcriptional regulator

CTD Direct Evidence: marker/mechanism

NCBI chr11:97,061,367...97,186,961
Ensembl chr11:100,552,424...100,681,301

Ichthyosis Hystrix Gravior

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

keratin 10

ClinVar Annotator: match by term: Ichthyosis hystrix gravior

PMID:17355236 PMID:27212473

NCBI chr17:16,461,624...16,466,136
Ensembl chr17:16,686,898...16,690,415

G

transmembrane protein 99 (putative)

ClinVar Annotator: match by term: Ichthyosis hystrix gravior

PMID:17355236 PMID:27212473

NCBI chr17:16,447,929...16,465,165

immunodeficiency 123

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CD28 molecule

ClinVar Annotator: match by term: Immunodeficiency 123 with HPV-related verrucosis

NCBI chr2B:90,938,795...90,971,438
Ensembl chr2B:209,076,388...209,111,213

immunodeficiency 129

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ras homolog family member H

ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 4 | ClinVar Annotator: match by term: RHOH-related condition

PMID:22850876 PMID:25741868 PMID:28492532 PMID:38775840

NCBI chr 4:34,517,487...34,569,934
Ensembl chr 4:40,419,549...40,420,124

immunodeficiency 130

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

interleukin 7

ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 5 | ClinVar Annotator: match by term: IL7-related condition

PMID:25741868 PMID:25981006 PMID:28492532 PMID:31900472 PMID:39352394

NCBI chr 8:75,254,166...75,337,373
Ensembl chr 8:76,895,095...76,966,918

inverted papilloma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cyclin dependent kinase inhibitor 1A

protein:increased expression:nucleus:

PMID:19863319 PMID:21608063

RGD:8662353 RGD:8662357

NCBI chr 6:36,241,405...36,250,032
Ensembl chr 6:37,436,990...37,445,599

G

hepatocyte growth factor

protein:increased expression:inferior nasal concha:

NCBI chr 7:73,667,618...73,738,960
Ensembl chr 7:87,327,798...87,397,811

G

kinase insert domain receptor

protein:increased expression:inferior nasal concha:

NCBI chr 4:68,813,894...68,861,018
Ensembl chr 4:75,377,375...75,427,109

G

vascular endothelial growth factor A

protein:increased expression:inferior nasal concha:

NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353

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 9:107,568,670...107,621,032
Ensembl chr 9:136,544,639...136,598,740

G

notch receptor 2

ClinVar Annotator: match by term: Keratoacanthoma

NCBI chr 1:82,457,829...82,615,142
Ensembl chr 1:117,538,243...117,612,840

G

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

ClinVar Annotator: match by term: Keratoacanthoma

PMID:22949682 PMID:23246288 PMID:25741868 PMID:27283355 PMID:28151489 More...

NCBI chr 3:176,182,765...176,272,024
Ensembl chr 3:184,355,785...184,441,977

Laryngeal Papillomatosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

prostaglandin-endoperoxide synthase 2

NCBI chr 1:162,205,534...162,214,130
Ensembl chr 1:166,355,845...166,364,519

G

serpin family A member 3

protein:decreased expression:serum

NCBI chr14:75,220,252...75,247,996
Ensembl chr14:94,551,934...94,579,515

G

transporter 1, ATP binding cassette subfamily B member

NCBI chr 6:32,414,665...32,423,488
Ensembl chr 6:33,530,171...33,538,978

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

NCBI chr20:40,950,238...40,982,481
Ensembl chr20:42,044,613...42,076,868

G

catalase

protein:increased activity:larynx

NCBI chr11:34,413,253...34,446,831
Ensembl chr11:34,289,603...34,323,160

G

cell division cycle 73

disease_progression

protein:decreased expression:larynx (human)

NCBI chr 1:168,581,730...168,710,915
Ensembl chr 1:172,875,365...173,004,934

G

cyclin dependent kinase inhibitor 1A

NCBI chr 6:36,241,405...36,250,032
Ensembl chr 6:37,436,990...37,445,599

G

chromodomain helicase DNA binding protein 4

exacerbates

mRNA:increased expression:larynx (human)

NCBI chr12:6,701,004...6,738,621
Ensembl chr12:6,619,089...6,656,076

G

epidermal growth factor receptor

disease_progression

NCBI chr 7:55,614,042...55,807,285
Ensembl chr 7:56,046,296...56,111,615

G

erb-b2 receptor tyrosine kinase 2

disease_progression

NCBI chr17:17,560,337...17,600,808
Ensembl chr17:17,777,434...17,805,862

G

erb-b2 receptor tyrosine kinase 3

disease_progression

NCBI chr12:32,811,533...32,834,958
Ensembl chr12:33,063,434...33,084,994

G

erb-b2 receptor tyrosine kinase 4

disease_progression

NCBI chr2B:98,625,630...99,795,371
Ensembl chr2B:217,069,644...218,272,006

G

forkhead box L2

exacerbates

mRNA:increased expression:larynx (human)

NCBI chr 3:135,968,040...135,980,063

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)

PMID:24074040 PMID:27188866 PMID:28641905

RGD:152995454 RGD:152995455 RGD:152995493

NCBI chr 3:49,280,038...49,281,455
Ensembl chr 3:50,360,947...50,361,826

G

mitogen-activated protein kinase kinase 4

severity

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

NCBI chr17:39,497,105...39,622,331
Ensembl chr17:44,248,857...44,359,909

G

mutL homolog 1

disease_progression

mRNA:decreased expression:larynx

NCBI chr 3:36,899,828...36,957,076
Ensembl chr 3:37,189,439...37,245,801

G

matrix metallopeptidase 2

NCBI chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279

G

mutS homolog 2

disease_progression

mRNA:decreased expression:larynx

NCBI chr2A:47,524,468...47,602,376
Ensembl chr2A:48,447,207...48,554,461

G

N-acetyltransferase 2

susceptibility

DNA:polymorphisms: :

PMID:16155914 PMID:19922706

RGD:5131602 RGD:5131856

NCBI chr 8:17,606,445...17,623,397
Ensembl chr 8:14,575,455...14,576,327

G

phospholipase C gamma 1

ameliorates

mRNA:increased expression:larynx (human)

NCBI chr20:37,477,077...37,515,854
Ensembl chr20:38,572,709...38,615,145

G

RELA proto-oncogene, NF-kB subunit

severity

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

NCBI chr11:61,012,839...61,022,225
Ensembl chr11:64,347,859...64,356,868

G

xanthine dehydrogenase

protein:increased activity:larynx

NCBI chr2A:31,356,011...31,435,111
Ensembl chr2A:31,425,183...31,504,455

G

X-ray repair cross complementing 1

ClinVar Annotator: match by term: Laryngeal squamous cell carcinoma

NCBI chr19:40,485,052...40,522,188
Ensembl chr19:49,094,014...49,125,520

lung squamous cell carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ALK receptor tyrosine kinase

ClinVar Annotator: match by term: Squamous cell lung carcinoma

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

NCBI chr2A:29,196,195...29,930,062
Ensembl chr2A:29,276,041...30,006,735

G

Rho GTPase activating protein 44

mRNA:decreased expression:lung (human)

NCBI chr17:38,657,824...38,859,591
Ensembl chr17:43,357,438...43,453,457

G

AT-rich interaction domain 1A

exacerbates

protein:decreased expression:lung (human)

NCBI chr 1:25,960,868...26,047,057
Ensembl chr 1:27,018,616...27,103,239

G

actin related protein 2/3 complex subunit 5

mRNA:increased expression:lung (human)

NCBI chr 1:159,156,229...159,165,898
Ensembl chr 1:163,311,111...163,323,554

G

ATM serine/threonine kinase

susceptibility

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

NCBI chr11:103,109,979...103,256,405
Ensembl chr11:106,584,228...106,727,041

G

ATRX chromatin remodeler

severity

NCBI chr X:66,682,968...66,969,421
Ensembl chr X:76,795,574...77,083,486

G

baculoviral IAP repeat containing 5

disease_progression

mRNA:increased expression:lung (human)

NCBI chr17:72,292,332...72,303,493
Ensembl chr17:77,842,724...77,854,159

G

baculoviral IAP repeat containing 6

disease_progression

mRNA:increased expression:lung (human)

NCBI chr2A:32,373,479...32,633,088
Ensembl chr2A:33,084,929...33,343,245

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 7:132,651,908...132,855,422
Ensembl chr 7:145,138,510...145,327,115

G

basigin (Ok blood group)

mRNA:increased expression:lung

Ensembl chr19:539,815...551,456

G

Cbl proto-oncogene B

disease_progression

NCBI chr 3:102,752,406...102,966,414
Ensembl chr 3:109,690,120...109,905,191

G

cyclin D1

disease_progression

protein:increased expression:lung

NCBI chr11:64,737,006...64,750,353

G

cyclin D2

DNA:hypermethylation:promoter

NCBI chr12:4,385,957...4,417,602
Ensembl chr12:4,309,272...4,335,551

G

cyclin dependent kinase 4

protein:increased expression:lung

NCBI chr12:31,174,446...31,178,597
Ensembl chr12:31,434,594...31,438,876

G

cyclin dependent kinase inhibitor 2A

ClinVar Annotator: match by term: Squamous cell lung carcinoma

PMID:8552400 PMID:8573142 PMID:9053859 PMID:9660926 PMID:10498896 More...

NCBI chr 9:21,803,862...21,831,322

G

chromodomain helicase DNA binding protein 4

mRNA:increased expression:lung (human)

NCBI chr12:6,701,004...6,738,621
Ensembl chr12:6,619,089...6,656,076

G

cholinergic receptor nicotinic alpha 5 subunit

susceptibility

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

PMID:20124469 PMID:23314339

RGD:150527849 RGD:150527851

NCBI chr15:57,493,730...57,530,463
Ensembl chr15:76,455,165...76,486,376

G

cholinergic receptor nicotinic beta 4 subunit

susceptibility

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

PMID:20124469 PMID:22945651 PMID:23397474

RGD:150527851 RGD:151361148 RGD:151361154

NCBI chr15:57,552,697...57,570,828
Ensembl chr15:76,515,455...76,532,712

G

CLPTM1 like

no_association
susceptibility

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

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

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

Ensembl chr 5:1,361,571...1,388,415

G

CREB binding protein

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

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

NCBI chr16:2,645,445...2,800,975
Ensembl chr16:3,820,519...3,974,206

G

colony stimulating factor 1 receptor

protein:increased expression:lung (human)

NCBI chr 5:145,478,725...145,537,858
Ensembl chr 5:151,483,572...151,517,415

G

catenin beta 1

disease_progression

protein:increased expression:lung

NCBI chr 3:41,104,940...41,145,934
Ensembl chr 3:41,373,726...41,414,030

G

cytochrome P450 family 1 subfamily B member 1

susceptibility

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

NCBI chr2A:38,087,863...38,096,529
Ensembl chr2A:38,851,000...38,859,824

G

discoidin domain receptor tyrosine kinase 2

severity

ClinVar Annotator: match by term: Squamous cell lung carcinoma

PMID:22328973 PMID:24885564 PMID:25741868 PMID:26206333 PMID:28492532

NCBI chr 1:138,048,730...138,200,426
Ensembl chr 1:141,932,158...141,990,766

G

E2F transcription factor 1

treatment

NCBI chr20:29,963,083...29,973,860
Ensembl chr20:31,103,764...31,110,604

G

E2F transcription factor 3

NCBI chr 6:20,225,471...20,317,199
Ensembl chr 6:20,574,898...20,665,785

G

eukaryotic translation elongation factor 2

disease_progression

protein:increased expression:lung (human)

NCBI chr19:3,000,608...3,009,918
Ensembl chr19:3,950,772...3,960,172

G

epidermal growth factor receptor

ClinVar Annotator: match by term: Squamous cell lung carcinoma

PMID:20942962 PMID:24033266 PMID:25382819 PMID:25741868 PMID:27294619 More...

NCBI chr 7:55,614,042...55,807,285
Ensembl chr 7:56,046,296...56,111,615

G

empty spiracles homeobox 2

exacerbates

protein:decreased expression:lung (human)

NCBI chr10:114,124,759...114,132,109
Ensembl chr10:117,551,451...117,557,972

G

ERCC excision repair 6, chromatin remodeling factor

mRNA, protein:increased expression:lung (human)

NCBI chr10:44,703,720...44,784,948

G

ERCC excision repair 6 like, spindle assembly checkpoint helicase

mRNA:increased expression:lung (human)

NCBI chr X:61,441,350...61,476,267
Ensembl chr X:71,526,160...71,560,091

G

fibroblast activation protein alpha

disease_progression

NCBI chr2B:49,464,199...49,537,284
Ensembl chr2B:166,832,963...166,904,950

G

F-box and WD repeat domain containing 7

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

PMID:25741868 PMID:26619011

NCBI chr 4:144,660,676...144,874,404
Ensembl chr 4:156,312,274...156,402,351

G

fibroblast growth factor 9

mRNA:decreased expression:lung (human)

NCBI chr13:2,967,713...3,000,554
Ensembl chr13:21,273,333...21,307,198

G

fibroblast growth factor receptor 2

ClinVar Annotator: match by term: Squamous cell lung carcinoma

NCBI chr10:118,055,854...118,175,440
Ensembl chr10:121,469,735...121,588,815

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:8589699 PMID:10471491 PMID:11038465 PMID:11879084 PMID:15772091 More...

NCBI chr 4:1,933,172...1,948,742
Ensembl chr 4:1,843,774...1,861,692

G

fibroblast growth factor receptor 4

disease_progression

human cells in mouse model

NCBI chr 5:172,386,443...172,400,271
Ensembl chr 5:179,454,995...179,467,605

G

frizzled related protein

protein:decreased expression:lung (human)

NCBI chr2B:70,106,378...70,139,333
Ensembl chr2B:187,915,579...187,948,855

G

far upstream element binding protein 1

mRNA:decreased expression:lung (human)

NCBI chr 1:77,162,675...77,198,486

G

glutathione peroxidase 1

susceptibility

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

PMID:16797832 PMID:18298806

RGD:152995481 RGD:152995507

NCBI chr 3:49,280,038...49,281,455
Ensembl chr 3:50,360,947...50,361,826

G

HRas proto-oncogene, GTPase

ClinVar Annotator: match by term: Squamous cell lung carcinoma

PMID:16372351 PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr11:537,488...540,810
Ensembl chr11:568,305...571,078

G

isocitrate dehydrogenase (NADP(+)) 1

protein:increased expression:blood plasma (human)

NCBI chr2B:95,475,320...95,494,286
Ensembl chr2B:213,599,036...213,617,175

G

isocitrate dehydrogenase (NADP(+)) 2

susceptibility
severity

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

PMID:27649069 PMID:29465809 PMID:30128035

RGD:149735564 RGD:149735566 RGD:149735567

NCBI chr15:68,771,050...68,790,523
Ensembl chr15:87,972,889...87,991,276

G

KIT proto-oncogene, receptor tyrosine kinase

ClinVar Annotator: match by term: Squamous cell lung carcinoma

NCBI chr 4:69,199,543...69,282,323
Ensembl chr 4:75,761,946...75,844,473

G

lysine methyltransferase 2D

disease_progression

PMID:24323028 PMID:28177435 PMID:30885352

RGD:150523770 RGD:150523776 RGD:150523777

NCBI chr12:39,689,463...39,731,904
Ensembl chr12:40,575,083...40,608,661

G

KRAS proto-oncogene, GTPase

ClinVar Annotator: match by term: Squamous cell lung carcinoma

PMID:6695174 PMID:15696205 PMID:17704260 PMID:26242988 PMID:28492532

NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335

G

laminin subunit gamma 2

disease_progression

NCBI chr 1:158,697,084...158,763,209
Ensembl chr 1:162,862,785...162,921,864

G

sulfotransferase 1A1

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

G

cytochrome c

treatment

NCBI chr 7:25,784,900...25,791,598
Ensembl chr 7:25,396,013...25,398,549

G

histone H3.1

ClinVar Annotator: match by term: Squamous cell lung carcinoma

NCBI chr 6:25,865,046...25,865,544
Ensembl chr 6:26,523,132...26,523,542

G

leucine rich repeat containing 56

ClinVar Annotator: match by term: Squamous cell lung carcinoma

PMID:16372351 PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr11:514,227...559,838
Ensembl chr11:575,495...588,750

G

mitogen-activated protein kinase kinase 1

ClinVar Annotator: match by term: Squamous cell lung carcinoma

NCBI chr15:45,337,117...45,438,826
Ensembl chr15:63,613,961...63,714,161

G

mitogen-activated protein kinase kinase 7

mRNA:decreased expression:lung (human)

NCBI chr19:7,205,124...7,215,776
Ensembl chr19:8,057,598...8,066,512

G

MET proto-oncogene, receptor tyrosine kinase

ClinVar Annotator: match by term: Squamous cell lung carcinoma

NCBI chr 7:108,646,278...108,772,238
Ensembl chr 7:121,365,438...121,468,159

G

platelet derived growth factor receptor alpha

ClinVar Annotator: match by term: Squamous cell lung carcinoma

PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr 4:69,639,081...69,709,870
Ensembl chr 4:76,199,382...76,271,097

G

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

ClinVar Annotator: match by term: Squamous cell lung carcinoma

NCBI chr 3:176,182,765...176,272,024
Ensembl chr 3:184,355,785...184,441,977

G

DNA polymerase epsilon, catalytic subunit

ameliorates

DNA:mutations:multiple (human)

NCBI chr12:129,975,750...130,038,402
Ensembl chr12:134,695,976...134,758,650

G

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

mRNA:increased expression:lung (human)

NCBI chr 8:64,489,817...64,769,602
Ensembl chr 8:66,215,974...66,430,138

G

patched 1

disease_progression

DNA:CNVs

NCBI chr 9:66,542,675...66,616,820
Ensembl chr 9:94,668,365...94,741,453

G

phosphatase and tensin homolog

ClinVar Annotator: match by term: Squamous cell lung carcinoma

NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605

G

protein tyrosine kinase 2

severity

NCBI chr 8:137,330,777...137,677,306
Ensembl chr 8:140,412,773...140,684,898

G

protein tyrosine phosphatase non-receptor type 11

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

PMID:11704759 PMID:12634870 PMID:12717436 PMID:14644997 PMID:14974085 More...

NCBI chr12:110,016,364...110,107,462
Ensembl chr12:113,435,669...113,503,762

G

protein tyrosine phosphatase non-receptor type 13

susceptibility
severity

DNA:missense mutations:cds:p.I1522M, p.Y2081D (human)
mRNA,protein:decreased expression:lung

PMID:19672627 PMID:22245727 PMID:23906871

RGD:152176663 RGD:152176664 RGD:152176665

NCBI chr 4:78,893,598...79,118,745
Ensembl chr 4:89,623,271...89,847,616

G

protein tyrosine phosphatase receptor type J

susceptibility

DNA:missense mutations:cds:p.R326Q, p.Q276P (human)

NCBI chr11:47,941,134...48,130,538
Ensembl chr11:48,613,761...48,670,494

G

RAD52 homolog, DNA repair protein

ameliorates
susceptibility

DNA:SNP: (rs6489769) (human)

PMID:22585858 PMID:28415565

RGD:151660334 RGD:151660345

NCBI chr12:986,372...1,066,708
Ensembl chr12:946,825...985,668

G

surfactant protein B

susceptibility

DNA:polymorphism:intron (human)
DNA:variants:intron:

PMID:12107845 PMID:16570259

RGD:151667424 RGD:4143389

NCBI chr2A:85,708,485...85,718,120
Ensembl chr2A:87,257,244...87,268,332

G

solute carrier family 7 member 5

NCBI chr16:68,512,407...68,552,763

G

SRY-box transcription factor 30

disease_progression

NCBI chr 5:153,022,109...153,067,734
Ensembl chr 5:159,640,126...159,737,776

G

SRC proto-oncogene, non-receptor tyrosine kinase

severity

NCBI chr20:33,667,614...33,727,126
Ensembl chr20:34,822,271...34,839,634

G

serine and arginine rich splicing factor 1

protein:increased expression:lung epithelium

NCBI chr17:52,083,676...52,087,454
Ensembl chr17:56,937,295...56,944,425

G

serine and arginine rich splicing factor 2

protein:increased expression:lung epithelium,nucleus

NCBI chr17:70,809,931...70,813,191
Ensembl chr17:76,375,957...76,379,759

G

serine/threonine kinase 11

ClinVar Annotator: match by term: Squamous cell lung carcinoma

PMID:15800014 PMID:17676035 PMID:25741868 PMID:28492532

Ensembl chr19:1,188,537...1,210,677

G

telomerase reverse transcriptase

susceptibility

DNA:SNP::rs33963617(human)
DNA:SNP:: rs2853669(human)

PMID:23908149 PMID:31935503

RGD:150530498 RGD:150530635

Ensembl chr 5:1,300,960...1,338,872

G

tumor protein p53

ClinVar Annotator: match by term: Squamous cell lung carcinoma

PMID:1349175 PMID:1359493 PMID:1565143 PMID:1565144 PMID:1591732 More...

NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120

G

tumor protein p73

treatment

mRNA:increased expression:lung (human)
DNA:SNP:: rs2273953(human)

PMID:27246533 PMID:30420492

RGD:151347580 RGD:151347584

NCBI chr 1:2,323,399...2,405,295
Ensembl chr 1:3,476,064...3,529,206

malignant mesothelioma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

activin A receptor type 1B

ameliorates

NCBI chr12:36,765,655...36,811,355
Ensembl chr12:37,541,867...37,566,660

G

adenosine deaminase

treatment

NCBI chr20:40,950,238...40,982,481
Ensembl chr20:42,044,613...42,076,868

G

ADAM metallopeptidase with thrombospondin type 1 motif 2

CTD Direct Evidence: marker/mechanism

NCBI chr 5:174,264,811...174,502,817
Ensembl chr 5:181,557,928...181,786,175

G

argonaute RISC component 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:35,148,984...35,196,252
Ensembl chr 1:36,324,733...36,360,832

G

argonaute RISC catalytic component 2

CTD Direct Evidence: marker/mechanism

NCBI chr 8:137,192,037...137,308,059
Ensembl chr 8:140,287,647...140,361,125

G

annexin A2

CTD Direct Evidence: marker/mechanism

NCBI chr15:39,322,303...39,371,565
Ensembl chr15:57,625,425...57,674,250

G

apolipoprotein A1

CTD Direct Evidence: marker/mechanism

NCBI chr11:111,673,539...111,675,428
Ensembl chr11:115,606,136...115,608,122

G

BRCA1 associated deubiquitinase 1

CTD Direct Evidence: marker/mechanism

PMID:24928783 PMID:25231345 PMID:26463840 PMID:26928227 PMID:29112861

NCBI chr 3:52,344,067...52,352,187
Ensembl chr 3:53,573,785...53,581,943

G

BCL10 immune signaling adaptor

ClinVar Annotator: match by term: Mesothelioma, malignant | ClinVar Annotator: match by term: Mesothelioma, somatic

PMID:9989495 PMID:10380920 PMID:10408400 PMID:25741868 PMID:28492532

NCBI chr 1:117,823,388...117,834,314

G

BCL2 apoptosis regulator

CTD Direct Evidence: marker/mechanism

NCBI chr18:56,481,212...56,679,012
Ensembl chr18:59,802,443...59,992,100

G

complement C9

CTD Direct Evidence: marker/mechanism

NCBI chr 5:71,011,961...71,090,243
Ensembl chr 5:76,051,911...76,130,725

G

calbindin 2

CTD Direct Evidence: marker/mechanism

NCBI chr16:53,620,317...53,653,372
Ensembl chr16:71,195,770...71,227,937

G

C-C motif chemokine ligand 23

CTD Direct Evidence: marker/mechanism

NCBI chr17:20,778,008...20,782,929
Ensembl chr17:21,073,882...21,078,794

G

C-C motif chemokine ligand 27

CTD Direct Evidence: marker/mechanism

NCBI chr 9:34,498,478...34,501,475
Ensembl chr 9:35,307,175...35,308,146

G

C-C motif chemokine ligand 5

CTD Direct Evidence: marker/mechanism

NCBI chr17:20,915,198...20,923,530
Ensembl chr17:21,210,798...21,219,172

G

cyclin E2

CTD Direct Evidence: marker/mechanism

NCBI chr 8:91,499,647...91,518,488
Ensembl chr 8:93,702,104...93,717,151

G

CD40 molecule

treatment

NCBI chr20:42,455,711...42,467,139
Ensembl chr20:43,541,619...43,552,994

G

cadherin 5

CTD Direct Evidence: marker/mechanism

NCBI chr16:46,684,545...46,722,740
Ensembl chr16:65,787,370...65,825,360

G

cyclin dependent kinase 6

CTD Direct Evidence: marker/mechanism

NCBI chr 7:84,603,419...84,835,082

G

cyclin dependent kinase inhibitor 1A

CTD Direct Evidence: marker/mechanism

NCBI chr 6:36,241,405...36,250,032
Ensembl chr 6:37,436,990...37,445,599

G

cyclin dependent kinase inhibitor 2A

CTD Direct Evidence: marker/mechanism

PMID:19223589 PMID:21526190 PMID:29112861 PMID:37441092

NCBI chr 9:21,803,862...21,831,322

G

cilia and flagella associated protein 45

CTD Direct Evidence: marker/mechanism

NCBI chr 1:135,223,885...135,251,829
Ensembl chr 1:139,144,634...139,172,558

G

claudin 10

CTD Direct Evidence: marker/mechanism

NCBI chr13:76,728,572...76,755,685
Ensembl chr13:95,763,980...95,909,161

G

claudin 15

CTD Direct Evidence: marker/mechanism

NCBI chr 7:93,373,450...93,380,912
Ensembl chr 7:106,613,604...106,620,479

G

claudin 4

CTD Direct Evidence: marker/mechanism

Ensembl chr 7:80,983,832...80,984,461

G

claudin 5

CTD Direct Evidence: marker/mechanism

NCBI chr22:2,282,215...2,286,724
Ensembl chr22:17,958,182...17,959,093

G

claudin 8

CTD Direct Evidence: marker/mechanism

NCBI chr21:16,634,733...16,636,809
Ensembl chr21:30,020,274...30,020,951

G

C-type lectin domain containing 11A

CTD Direct Evidence: marker/mechanism

NCBI chr19:47,682,806...47,690,389
Ensembl chr19:56,586,183...56,588,580

G

collagen type XII alpha 1 chain

CTD Direct Evidence: marker/mechanism

NCBI chr 6:72,927,897...73,049,168
Ensembl chr 6:76,219,319...76,340,496

G

COPI coat complex subunit gamma 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:126,310,558...126,338,726
Ensembl chr 3:133,664,856...133,694,849

G

colony stimulating factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:112,555,755...112,575,894
Ensembl chr 1:127,764,916...127,781,943

G

catenin beta 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:41,104,940...41,145,934
Ensembl chr 3:41,373,726...41,414,030

G

C-X-C motif chemokine ligand 12

CTD Direct Evidence: marker/mechanism

NCBI chr10:41,296,975...41,384,864
Ensembl chr10:44,552,480...44,564,231

G

C-X-C motif chemokine ligand 13

CTD Direct Evidence: marker/mechanism

NCBI chr 4:46,583,759...46,589,865
Ensembl chr 4:52,428,702...52,434,803

G

C-X-C motif chemokine ligand 8

CTD Direct Evidence: marker/mechanism

PMID:25162674 PMID:28377727

NCBI chr 4:50,452,857...50,456,015
Ensembl chr 4:56,286,708...56,288,083

G

C-X-C motif chemokine ligand 9

CTD Direct Evidence: marker/mechanism

NCBI chr 4:48,198,478...48,204,658
Ensembl chr 4:54,036,342...54,042,502

G

DEAD-box helicase 3 X-linked

CTD Direct Evidence: marker/mechanism

NCBI chr X:33,780,381...33,796,829
Ensembl chr X:41,475,116...41,505,837

G

DEAD-box helicase 51

CTD Direct Evidence: marker/mechanism

NCBI chr12:129,797,708...129,803,006
Ensembl chr12:134,225,416...134,234,202

G

EGF containing fibulin extracellular matrix protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr2A:56,017,678...56,076,059
Ensembl chr2A:57,155,000...57,212,500

G

epidermal growth factor receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 7:55,614,042...55,807,285
Ensembl chr 7:56,046,296...56,111,615

G

ecto-NOX disulfide-thiol exchanger 2

CTD Direct Evidence: marker/mechanism

NCBI chr X:119,761,641...120,039,567
Ensembl chr X:130,049,580...130,236,931

G

epoxide hydrolase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:201,271,366...201,306,635
Ensembl chr 1:206,272,866...206,307,581

G

coagulation factor IX

CTD Direct Evidence: marker/mechanism

NCBI chr X:128,684,709...128,719,020
Ensembl chr X:138,934,167...138,967,087

G

FYVE, RhoGEF and PH domain containing 6

CTD Direct Evidence: marker/mechanism

NCBI chr12:92,669,106...92,809,002
Ensembl chr12:96,065,059...96,203,262

G

fibroblast growth factor 18

CTD Direct Evidence: marker/mechanism

NCBI chr 5:166,765,061...166,802,277

G

fibroblast growth factor 9

CTD Direct Evidence: marker/mechanism

NCBI chr13:2,967,713...3,000,554
Ensembl chr13:21,273,333...21,307,198

G

fibronectin 1

CTD Direct Evidence: marker/mechanism

NCBI chr2B:102,623,568...102,698,747
Ensembl chr2B:221,208,431...221,284,003

G

ferritin heavy chain 1

CTD Direct Evidence: marker/mechanism

NCBI chr11:57,329,163...57,332,248

G

G protein-coupled receptor 27

CTD Direct Evidence: marker/mechanism

NCBI chr 3:71,693,611...71,696,247

G

G protein-coupled receptor 37

CTD Direct Evidence: marker/mechanism

NCBI chr 7:116,727,912...116,751,647
Ensembl chr 7:129,410,458...129,430,292

G

glutathione S-transferase mu 1

DNA:deletion:cds (human)
CTD Direct Evidence: marker/mechanism

PMID:7606714 PMID:16697254

Ensembl chr 1:127,979,238...128,010,411

G

histone deacetylase 4

CTD Direct Evidence: marker/mechanism

NCBI chr2B:126,287,745...126,649,815
Ensembl chr2B:245,123,061...245,427,054

G

hephaestin

CTD Direct Evidence: marker/mechanism

NCBI chr X:55,276,887...55,375,719
Ensembl chr X:65,349,546...65,448,388

G

hepatocyte growth factor

CTD Direct Evidence: marker/mechanism

NCBI chr 7:73,667,618...73,738,960
Ensembl chr 7:87,327,798...87,397,811

G

HtrA serine peptidase 1

disease_progression

protein:increased expression:mesothelium (human)

NCBI chr10:119,030,409...119,083,682
Ensembl chr10:122,441,098...122,494,733

G

intercellular adhesion molecule 2

CTD Direct Evidence: marker/mechanism

NCBI chr17:58,095,937...58,114,654
Ensembl chr17:63,189,914...63,207,844

G

interferon gamma

CTD Direct Evidence: marker/mechanism

NCBI chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829

G

insulin like growth factor 2 mRNA binding protein 3

CTD Direct Evidence: marker/mechanism

NCBI chr 7:23,994,839...24,148,709
Ensembl chr 7:23,602,905...23,755,473

G

interleukin 12B

CTD Direct Evidence: marker/mechanism

NCBI chr 5:154,706,467...154,722,231
Ensembl chr 5:161,325,303...161,335,381

G

interleukin 1 alpha

CTD Direct Evidence: marker/mechanism

NCBI chr2A:89,273,482...89,284,421
Ensembl chr2A:113,784,854...113,795,801

G

interleukin 2 receptor subunit alpha

CTD Direct Evidence: marker/mechanism

NCBI chr10:6,053,549...6,103,863

G

interleukin 3

CTD Direct Evidence: marker/mechanism

NCBI chr 5:127,483,843...127,486,388
Ensembl chr 5:133,647,667...133,650,213

G

interleukin 4

CTD Direct Evidence: marker/mechanism

NCBI chr 5:128,091,342...128,099,886
Ensembl chr 5:134,253,039...134,261,581

G

interleukin 6

CTD Direct Evidence: marker/mechanism

NCBI chr 7:23,415,922...23,420,767

G

integrin linked kinase

CTD Direct Evidence: marker/mechanism

NCBI chr11:6,735,735...6,742,922
Ensembl chr11:6,418,717...6,425,788

G

lysine acetyltransferase 5

CTD Direct Evidence: therapeutic

NCBI chr11:61,071,118...61,078,667
Ensembl chr11:64,404,572...64,412,667

G

KIT proto-oncogene, receptor tyrosine kinase

CTD Direct Evidence: marker/mechanism

NCBI chr 4:69,199,543...69,282,323
Ensembl chr 4:75,761,946...75,844,473

G

LIM and calponin homology domains 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:35,685,904...36,025,582
Ensembl chr 4:41,533,560...41,873,694

G

ficolin-2

CTD Direct Evidence: marker/mechanism

NCBI chr 9:105,995,807...106,020,389
Ensembl chr 9:134,997,038...135,018,992

G

lymphotoxin alpha

CTD Direct Evidence: marker/mechanism

NCBI chr 6:31,233,411...31,235,409
Ensembl chr 6:32,123,353...32,125,375

G

melanoma cell adhesion molecule

disease_progression

CTD Direct Evidence: marker/mechanism

PMID:22784439 PMID:23621518

NCBI chr11:114,149,583...114,158,234
Ensembl chr11:118,078,179...118,083,893

G

midkine

CTD Direct Evidence: marker/mechanism

NCBI chr11:46,339,365...46,342,388
Ensembl chr11:46,891,540...46,893,254

G

MET proto-oncogene, receptor tyrosine kinase

CTD Direct Evidence: marker/mechanism

NCBI chr 7:108,646,278...108,772,238
Ensembl chr 7:121,365,438...121,468,159

G

macrophage migration inhibitory factor

CTD Direct Evidence: marker/mechanism

NCBI chr22:4,646,986...4,647,831
Ensembl chr22:22,730,807...22,732,009

G

melan-A

CTD Direct Evidence: marker/mechanism

NCBI chr 9:5,711,237...5,729,377
Ensembl chr 9:5,892,923...5,910,956

G

mesothelin

CTD Direct Evidence: marker/mechanism

PMID:19190155 PMID:27032653

Ensembl chr16:777,146...783,449

G

myotubularin related protein 4

CTD Direct Evidence: marker/mechanism

NCBI chr17:52,564,455...52,592,899
Ensembl chr17:57,418,229...57,446,545

G

mucin 1, cell surface associated

CTD Direct Evidence: marker/mechanism

NCBI chr 1:130,533,508...130,537,866
Ensembl chr 1:134,141,969...134,145,850

G

nanos C2HC-type zinc finger 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:115,603,040...115,607,245

G

N-acetyltransferase 2

susceptibility

CTD Direct Evidence: marker/mechanism

PMID:15993904 PMID:16697254

NCBI chr 8:17,606,445...17,623,397
Ensembl chr 8:14,575,455...14,576,327

G

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

disease_progression

CTD Direct Evidence: marker/mechanism

PMID:16166281 PMID:23435014 PMID:26463840 PMID:26678224 PMID:26928227 More...

RGD:150530636 RGD:150530640

NCBI chr22:10,648,022...10,738,167
Ensembl chr22:28,454,119...28,544,013

G

nerve growth factor

CTD Direct Evidence: marker/mechanism

NCBI chr 1:87,223,597...87,276,759

G

oncostatin M receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 5:71,437,589...71,525,521
Ensembl chr 5:76,478,699...76,543,263

G

poly(ADP-ribose) polymerase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:201,820,355...201,867,673
Ensembl chr 1:206,812,981...206,860,356

G

podoplanin

CTD Direct Evidence: marker/mechanism

NCBI chr 1:12,728,569...12,759,781
Ensembl chr 1:13,728,233...13,759,584

G

plasmolipin

CTD Direct Evidence: marker/mechanism

NCBI chr16:37,531,102...37,559,762
Ensembl chr16:56,663,791...56,692,784

G

protein tyrosine phosphatase receptor type F

CTD Direct Evidence: marker/mechanism

NCBI chr 1:42,878,344...42,923,539
Ensembl chr 1:44,220,991...44,297,647

G

PYD and CARD domain containing

CTD Direct Evidence: marker/mechanism

NCBI chr16:23,764,386...23,765,732
Ensembl chr16:31,571,363...31,573,828

G

Raf-1 proto-oncogene, serine/threonine kinase

CTD Direct Evidence: marker/mechanism

NCBI chr 3:12,510,084...12,590,598
Ensembl chr 3:12,853,415...12,932,871

G

retinoid X receptor alpha

CTD Direct Evidence: marker/mechanism

NCBI chr 9:105,424,046...105,539,241
Ensembl chr 9:134,082,865...134,144,704

G

ryanodine receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:212,600,198...213,387,312
Ensembl chr 1:217,815,676...218,383,509

G

S100 calcium binding protein B

CTD Direct Evidence: marker/mechanism

NCBI chr21:33,063,845...33,070,073
Ensembl chr21:46,197,750...46,203,953

G

syndecan 1

CTD Direct Evidence: marker/mechanism

NCBI chr2A:20,187,249...20,211,567
Ensembl chr2A:20,302,589...20,309,848

G

ssemaphorin 4F

CTD Direct Evidence: marker/mechanism

NCBI chr2A:74,720,714...74,777,154
Ensembl chr2A:76,226,330...76,253,890

G

serpin family A member 4

CTD Direct Evidence: marker/mechanism

NCBI chr14:75,185,501...75,194,061
Ensembl chr14:94,517,341...94,525,820

G

SET domain containing 2, histone lysine methyltransferase

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

PMID:26928227 PMID:27834213

NCBI chr 3:46,916,615...47,064,046
Ensembl chr 3:48,018,517...48,163,999

G

SET domain bifurcated histone lysine methyltransferase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:126,275,719...126,314,043
Ensembl chr 1:129,925,009...129,962,442

G

splicing factor 3b subunit 1

CTD Direct Evidence: marker/mechanism

NCBI chr2B:84,633,272...84,678,602
Ensembl chr2B:202,530,200...202,573,346

G

sex hormone binding globulin

CTD Direct Evidence: marker/mechanism

NCBI chr17:7,658,831...7,664,631
Ensembl chr17:7,645,187...7,650,552

G

solute carrier family 22 member 5

CTD Direct Evidence: marker/mechanism

NCBI chr 5:127,791,984...127,817,870
Ensembl chr 5:133,954,678...133,979,066

G

solute carrier family 2 member 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:42,224,273...42,257,184
Ensembl chr 1:43,600,733...43,634,143

G

SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 9:1,818,004...1,997,652
Ensembl chr 9:2,013,237...2,189,409

G

superoxide dismutase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 6:157,562,814...157,610,155
Ensembl chr 6:162,576,082...162,589,960

G

TBL1X/Y related 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:174,067,964...174,251,913
Ensembl chr 3:182,247,335...182,429,619

G

transferrin

CTD Direct Evidence: marker/mechanism

NCBI chr 3:130,799,063...130,830,227
Ensembl chr 3:138,274,159...138,305,476

G

transcription factor Dp-2

CTD Direct Evidence: marker/mechanism

NCBI chr 3:138,972,438...139,179,062
Ensembl chr 3:146,575,213...146,719,400

G

transforming growth factor beta 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:193,907,398...194,005,800
Ensembl chr 1:198,758,751...198,859,041

G

TNF receptor superfamily member 8

CTD Direct Evidence: marker/mechanism

NCBI chr 1:10,813,111...10,893,005
Ensembl chr 1:12,029,038...12,108,495

G

tumor protein p53

CTD Direct Evidence: marker/mechanism

PMID:26928227 PMID:37441092

NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120

G

TNF receptor associated factor 7

CTD Direct Evidence: marker/mechanism

NCBI chr16:1,013,831...1,036,486
Ensembl chr16:2,266,194...2,279,031

G

thioredoxin

CTD Direct Evidence: marker/mechanism

NCBI chr 9:81,399,056...81,411,607
Ensembl chr 9:109,565,557...109,578,311

G

unc-51 like autophagy activating kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chr17:31,262,168...31,362,251
Ensembl chr17:36,409,312...36,507,786

G

vimentin

CTD Direct Evidence: marker/mechanism

NCBI chr10:17,546,389...17,554,702
Ensembl chr10:17,818,285...17,826,642

G

WT1 transcription factor

ClinVar Annotator: match by term: Mesothelioma, malignant

PMID:1302008 PMID:1327525 PMID:1338906 PMID:1655284 PMID:1658787 More...

NCBI chr11:32,349,807...32,398,494
Ensembl chr11:32,238,720...32,287,249

G

WW and C2 domain containing 1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:163,654,833...163,835,006
Ensembl chr 5:170,418,414...170,602,373

G

X-ray repair cross complementing 1

treatment

NCBI chr19:40,485,052...40,522,188
Ensembl chr19:49,094,014...49,125,520

malignant pleural mesothelioma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BRCA1 associated deubiquitinase 1

disease_progression

NCBI chr 3:52,344,067...52,352,187
Ensembl chr 3:53,573,785...53,581,943

G

baculoviral IAP repeat containing 5

exacerbates

mRNA:increased expression:pleura, lung (human)

NCBI chr17:72,292,332...72,303,493
Ensembl chr17:77,842,724...77,854,159

G

baculoviral IAP repeat containing 7

ameliorates

mRNA:increased expression:pleura, lung (human)

NCBI chr20:59,618,530...59,623,612
Ensembl chr20:61,157,302...61,161,932

G

colony stimulating factor 1 receptor

mRNA:increased expression:peritoneum�� (human)

NCBI chr 5:145,478,725...145,537,858
Ensembl chr 5:151,483,572...151,517,415

G

empty spiracles homeobox 2

exacerbates

mRNA:decreased expression:mesothelium of pleural cavity (human)

NCBI chr10:114,124,759...114,132,109
Ensembl chr10:117,551,451...117,557,972

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

disease_progression

mRNA, protein:increased expression:pleura

NCBI chr 7:140,536,962...140,613,104
Ensembl chr 7:153,017,590...153,059,726

G

interleukin 7 receptor

disease_progression

NCBI chr 5:74,489,188...74,516,330
Ensembl chr 5:79,769,859...79,792,612

G

lysine demethylase 6A

mRNA:increased expression:mesothelium of pleural cavity (human)

NCBI chr X:37,313,000...37,548,630
Ensembl chr X:45,127,382...45,362,029

G

neuronal acetylcholine receptor subunit alpha-7

ameliorates

NCBI chr15:10,525,535...10,667,227
Ensembl chr15:29,565,885...29,705,194

G

mutL homolog 1

disease_progression

NCBI chr 3:36,899,828...36,957,076
Ensembl chr 3:37,189,439...37,245,801

G

nuclear receptor coactivator 2

ameliorates

protein:increased expression:mesothelium of pleural cavity (human)

NCBI chr 8:66,632,139...66,929,526
Ensembl chr 8:68,293,018...68,400,479

G

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

disease_progression

DNA:loss of heterozygosity

PMID:26493618 PMID:26928227 PMID:27378628

RGD:11553131 RGD:150429647 RGD:150530638

NCBI chr22:10,648,022...10,738,167
Ensembl chr22:28,454,119...28,544,013

G

RAD21 cohesin complex component

NCBI chr 8:113,520,456...113,549,339
Ensembl chr 8:116,063,503...116,092,421

G

SET domain containing 2, histone lysine methyltransferase

disease_progression

DNA:mutations:CDS:multiple (human)

PMID:26928227 PMID:33691361

RGD:150429647 RGD:150520202

NCBI chr 3:46,916,615...47,064,046
Ensembl chr 3:48,018,517...48,163,999

G

solute carrier family 7 member 5

disease_progression

protein:increased expression:pleura

PMID:22199264 PMID:24912849

RGD:151361201 RGD:151660330

NCBI chr16:68,512,407...68,552,763

G

smoothened, frizzled class receptor

disease_progression

DNA:missense mutations

PMID:23379358 PMID:33209614

RGD:150521620 RGD:150521621

NCBI chr 7:121,143,968...121,168,873
Ensembl chr 7:133,668,304...133,693,048

G

X-linked inhibitor of apoptosis

ameliorates

mRNA:increased expression:pleura, lung (human)

NCBI chr X:113,052,164...113,105,160
Ensembl chr X:123,232,643...123,278,606

maxillary sinus squamous cell carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cyclin dependent kinase inhibitor 1A

NCBI chr 6:36,241,405...36,250,032
Ensembl chr 6:37,436,990...37,445,599

Multiple Self-healing Palmoplantar Carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

NLR family pyrin domain containing 1

ClinVar Annotator: match by term: Palmoplantar carcinoma, multiple self-healing

PMID:16199547 PMID:17377159 PMID:23349227 PMID:24033266 PMID:25050600 More...

NCBI chr17:5,562,129...5,667,765
Ensembl chr17:5,542,007...5,623,091

oral squamous cell carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ABL proto-oncogene 1, non-receptor tyrosine kinase

severity

DNA:mutations

NCBI chr 9:101,834,189...102,005,811
Ensembl chr 9:130,484,333...130,652,941

G

adenosine deaminase

disease_progression

NCBI chr20:40,950,238...40,982,481
Ensembl chr20:42,044,613...42,076,868

G

ArfGAP with GTPase domain, ankyrin repeat and PH domain 2

disease_progression

NCBI chr12:31,187,821...31,201,594

G

aldehyde dehydrogenase 1 family member A1

protein:increased expression:oral epithelium

NCBI chr 9:51,737,305...51,916,648
Ensembl chr 9:71,680,890...71,814,085

G

angiopoietin 1

protein:decreased expression:oral mucosa (human)

NCBI chr 8:103,893,234...104,137,661
Ensembl chr 8:106,042,041...106,286,783

G

angiopoietin 2

protein:increased expression:oral mucosa (human)

NCBI chr 8:718,367...782,534
Ensembl chr 8:6,506,014...6,566,915

G

AT-rich interaction domain 2

disease_progression

NCBI chr12:42,823,236...43,004,465
Ensembl chr12:43,692,914...43,871,564

G

actin related protein 2/3 complex subunit 1B

severity

protein:increased expression:oral mucosa (human)

NCBI chr 7:91,348,120...91,368,299
Ensembl chr 7:104,861,582...104,870,369

G

ATM serine/threonine kinase

disease_progression

protein:increased expression:mucosa of oral region (human)

PMID:18288488 PMID:29928356

RGD:150340604 RGD:150340709

NCBI chr11:103,109,979...103,256,405
Ensembl chr11:106,584,228...106,727,041

G

ATPase H+ transporting V1 subunit C1

NCBI chr 8:99,521,146...99,725,603
Ensembl chr 8:101,832,538...101,883,956

G

axin 1

disease_progression

protein:decreased expression:oral epithelium (human)
mRNA:increased expression:oral epithelium (human)

PMID:17143481 PMID:21393552

RGD:150530474 RGD:150530486

Ensembl chr16:278,239...337,891

G

axin 2

susceptibility
disease_progression
ameliorates

DNA:SNP:intron: C>T (rs3923087)(human)

PMID:21393552 PMID:33046030

RGD:150530486 RGD:151356656

NCBI chr17:59,476,336...59,509,358
Ensembl chr17:64,688,416...64,720,086

G

BarH like homeobox 2

NCBI chr 1:93,373,317...93,378,667
Ensembl chr 1:92,121,017...92,126,036

G

BCL2 like 1

mRNA, protein:increased expression:mouth (human)

NCBI chr20:27,955,688...28,015,950
Ensembl chr20:29,088,055...29,146,585

G

basic helix-loop-helix family member e41

treatment

Human cells in mouse model

NCBI chr12:60,194,758...60,199,344

G

baculoviral IAP repeat containing 2

protein:increased expression:oral cavity (human)

NCBI chr11:97,298,736...97,324,966
Ensembl chr11:100,793,036...100,822,421

G

baculoviral IAP repeat containing 3

ameliorates
disease_progression

protein:decreased expression:oral cavity (human)
protein:increased expression:oral cavity (human)
mRNA:increased expression:oral cavity (human)

PMID:20967871 PMID:21952624 PMID:23852810 PMID:29286141

RGD:152998980 RGD:152998987 RGD:152999009 RGD:152999012

NCBI chr11:97,269,778...97,290,112
Ensembl chr11:100,763,274...100,785,194

G

baculoviral IAP repeat containing 5

protein:increased expression:oral cavity (human)

NCBI chr17:72,292,332...72,303,493
Ensembl chr17:77,842,724...77,854,159

G

BMP/retinoic acid inducible neural specific 2

DNA:amplication:oral epithelium

NCBI chr 1:152,694,667...152,806,085
Ensembl chr 1:156,450,411...156,502,742

G

bone marrow stromal cell antigen 2

disease_progression

NCBI chr19:16,890,257...16,892,989
Ensembl chr19:17,863,991...17,866,728

G

Bruton tyrosine kinase

treatment

mRNA:increased expression:oral epithelium (human)

NCBI chr X:90,551,874...90,588,786
Ensembl chr X:100,684,017...100,725,187

G

carbonic anhydrase 12

disease_progression

NCBI chr15:42,270,188...42,328,952
Ensembl chr15:60,565,592...60,624,008

G

calreticulin

exacerbates

protein:increased expression:oral epithelium (human)
protein:increased expression:mouth (human)

PMID:23375593 PMID:28599487

RGD:150520158 RGD:150521688

NCBI chr19:12,501,013...12,506,909
Ensembl chr19:13,242,900...13,249,416

G

calcium/calmodulin dependent protein kinase II inhibitor 1

NCBI chr 1:19,437,761...19,441,573
Ensembl chr 1:20,479,562...20,482,600

G

chromobox 2

disease_progression

NCBI chr17:73,858,381...73,867,811
Ensembl chr17:79,394,550...79,404,545

G

C-C motif chemokine ligand 2

susceptibility
disease_progression

DNA:polymorphism,haplotype::2518A>G(human)
associated with social isolation;protein:increased expression:tongue (rat)

PMID:21883707 PMID:33411841

RGD:152998999 RGD:8661694

NCBI chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384

G

C-C motif chemokine receptor 2

susceptibility

DNA:polymorphism,haplotype:cds:p.V64I(human)

NCBI chr 3:46,255,725...46,263,285
Ensembl chr 3:47,361,124...47,368,312

G

cell division cycle 73

mRNA:altered expression: tongue, oral cavity (human)

NCBI chr 1:168,581,730...168,710,915
Ensembl chr 1:172,875,365...173,004,934

G

cadherin 1

disease_progression

NCBI chr16:49,108,745...49,206,347
Ensembl chr16:68,502,584...68,596,488

G

cyclin dependent kinase inhibitor 1A

susceptibility
no_association
disease_progression

DNA:polymorphism:exon:149A>G(human)
DNA:polymorphism: :98C>A(human)

PMID:10873097 PMID:15817070 PMID:18251939

RGD:8662371 RGD:8662374 RGD:8662395

NCBI chr 6:36,241,405...36,250,032
Ensembl chr 6:37,436,990...37,445,599

G

ceramide synthase 1

exacerbates

NCBI chr19:18,308,265...18,334,892
Ensembl chr19:19,317,173...19,342,487

G

chromatin assembly factor 1 subunit B

disease_progression

protein:increased expression:mouth mucosa:

NCBI chr21:22,755,721...22,786,958
Ensembl chr21:36,113,971...36,143,575

G

CLPTM1 like

susceptibility

DNA:SNP: :rs402710(human)

Ensembl chr 5:1,361,571...1,388,415

G

catenin delta 1

disease_progression

NCBI chr11:53,000,582...53,058,054
Ensembl chr11:56,470,174...56,527,593

G

cytochrome P450 family 1 subfamily A member 1

NCBI chr15:53,664,968...53,672,277
Ensembl chr15:73,284,566...73,290,636

G

cytochrome P450 family 24 subfamily A member 1

susceptibility

DNA:SNP:exon: (rs2296241) (human)

NCBI chr20:50,500,103...50,520,487
Ensembl chr20:51,721,685...51,742,716

G

cytochrome P450 family 2 subfamily E member 1

Ensembl chr10:134,839,025...134,852,719

G

death domain associated protein

ameliorates

human cell line in a mouse model

NCBI chr 6:32,890,846...32,895,307
Ensembl chr 6:34,004,543...34,008,717

G

discoidin domain receptor tyrosine kinase 1

mRNA, protein:increased expression:mouth (human)

NCBI chr 6:30,625,871...30,645,066
Ensembl chr 6:31,496,047...31,513,455

G

discoidin domain receptor tyrosine kinase 2

severity

NCBI chr 1:138,048,730...138,200,426
Ensembl chr 1:141,932,158...141,990,766

G

DNA methyltransferase 3 beta

disease_progression

NCBI chr20:29,049,993...29,096,957
Ensembl chr20:30,186,069...30,215,487

G

dedicator of cytokinesis 6

disease_progression

NCBI chr19:10,747,850...10,811,483
Ensembl chr19:11,459,062...11,513,220

G

ephrin B2

protein:increased expression:oral mucosa (human)

NCBI chr13:87,629,831...87,675,652
Ensembl chr13:106,770,296...106,815,548

G

epidermal growth factor receptor

NCBI chr 7:55,614,042...55,807,285
Ensembl chr 7:56,046,296...56,111,615

G

erb-b2 receptor tyrosine kinase 2

NCBI chr17:17,560,337...17,600,808
Ensembl chr17:17,777,434...17,805,862

G

erb-b2 receptor tyrosine kinase 4

disease_progression

NCBI chr2B:98,625,630...99,795,371
Ensembl chr2B:217,069,644...218,272,006

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

susceptibility

DNA:SNPs, haplotypes: :multiple
associated with oral mucosa leukoplakia

PMID:21697275 PMID:24122997 PMID:26807327

RGD:126779588 RGD:126779606 RGD:126781699

NCBI chr 7:140,536,962...140,613,104
Ensembl chr 7:153,017,590...153,059,726

G

FAT atypical cadherin 1

onset

protein:increased expression:tongue (mouse)
DNA:mutations:multiple

PMID:28435450 PMID:30624777

RGD:151347668 RGD:151347687

NCBI chr 4:178,752,261...178,895,038
Ensembl chr 4:190,952,737...191,093,357

G

fibroblast growth factor receptor 3

associated with human papillomavirus;DNA:missense mutation:cds: p.S249C (human)

NCBI chr 4:1,933,172...1,948,742
Ensembl chr 4:1,843,774...1,861,692

G

fibroblast growth factor receptor 4

severity

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

NCBI chr 5:172,386,443...172,400,271
Ensembl chr 5:179,454,995...179,467,605

G

fms related receptor tyrosine kinase 3

mRNA:decreased expression:oral epithelium (human)

NCBI chr13:9,283,747...9,381,553
Ensembl chr13:27,627,178...27,723,940

G

FOS like 2, AP-1 transcription factor subunit

mRNA, protein:increased expression:mouth (human)

NCBI chr2A:28,392,328...28,416,838
Ensembl chr2A:28,485,613...28,498,397

G

glyceraldehyde-3-phosphate dehydrogenase

NCBI chr12:6,665,218...6,669,170
Ensembl chr12:6,583,895...6,587,729

G

glutathione peroxidase 1

exacerbates

protein:increased expression:oral cavity (human)

NCBI chr 3:49,280,038...49,281,455
Ensembl chr 3:50,360,947...50,361,826

G

glutathione peroxidase 4

disease_progression

protein:increased expression:oral cavity (human)

NCBI chr19:20,904...23,828

G

glycogen synthase kinase 3 beta

susceptibility

DNA:SNP:intron: (rs9879992) (human)

NCBI chr 3:116,943,205...117,215,001
Ensembl chr 3:123,861,379...124,126,771

G

glutathione S-transferase mu 1

severity

DNA:deletion: : (human)

PMID:14662415 PMID:22213390

RGD:12792245 RGD:14700962

Ensembl chr 1:127,979,238...128,010,411

G

glutathione S-transferase pi 1

mRNA,protein:decreased expression:mucosa:

NCBI chr11:62,942,756...62,945,701
Ensembl chr11:66,253,421...66,256,472

G

hes family bHLH transcription factor 1

protein:increased expression:tongue (mouse)

NCBI chr 3:191,432,513...191,435,387
Ensembl chr 3:201,749,044...201,754,257

G

interleukin 10

susceptibility

DNA:SNP:promoter:-592A>C (human)

NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371

G

interleukin 13 receptor subunit alpha 2

NCBI chr X:104,092,993...104,146,062
Ensembl chr X:114,597,077...114,635,253

G

interleukin 1 beta

disease_progression

associated with social isolation;protein:increased expression:tongue (rat)

NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424

G

interleukin 2

NCBI chr 4:114,637,328...114,642,586
Ensembl chr 4:125,782,563...125,787,984

G

interleukin 6

disease_progression

NCBI chr 7:23,415,922...23,420,767

G

Jun proto-oncogene, AP-1 transcription factor subunit

mRNA, protein:increased expression:mouth (human)

NCBI chr 1:58,042,794...58,045,536

G

JunB proto-oncogene, AP-1 transcription factor subunit

associated with papillomavirus infectious disease;protein:increased expression:oral cavity (human)

NCBI chr19:12,353,760...12,355,598
Ensembl chr19:13,097,931...13,098,974

G

lysine methyltransferase 2D

severity

NCBI chr12:39,689,463...39,731,904
Ensembl chr12:40,575,083...40,608,661

G

zinc-alpha-2-glycoprotein

protein:increased expression:saliva
protein:decreased expression:saliva

PMID:29199150 PMID:33564003

RGD:153350131 RGD:153350144

NCBI chr 7:91,999,717...92,009,066
Ensembl chr 7:105,432,782...105,442,219

G

histone H2AX

disease_progression

protein:increased expression:mucosa of oral region (human)

NCBI chr11:113,932,078...113,933,679

G

microcephalin 1

mRNA:protein:decreased expression:oral cavity, tissue (human)

NCBI chr 8:624,877...877,839
Ensembl chr 8:6,409,072...6,646,394

G

MET proto-oncogene, receptor tyrosine kinase

protein:increased expression, altered expression:mouth mucosa:

NCBI chr 7:108,646,278...108,772,238
Ensembl chr 7:121,365,438...121,468,159

G

methylenetetrahydrofolate reductase

susceptibility

DNA:missense mutation:cds:677C>T (human)

NCBI chr 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419

G

NLR family apoptosis inhibitory protein

protein:increased expression:oral cavity (human)

NCBI chr 5:44,345,623...44,401,358
Ensembl chr 5:45,920,125...45,973,937

G

notch receptor 1

protein:increased expression:tongue (mouse)

NCBI chr 9:107,568,670...107,621,032
Ensembl chr 9:136,544,639...136,598,740

G

platelet and endothelial cell adhesion molecule 1

protein:decreased expression:oral mucosa (human)

NCBI chr17:58,417,134...58,526,409
Ensembl chr17:63,511,784...63,579,067

G

plasminogen activator, urokinase

severity

protein:increased expression:oral mucosa (rat)

NCBI chr10:70,433,340...70,441,569
Ensembl chr10:73,105,895...73,113,136

G

phospholipase C gamma 1

disease_progression
ameliorates

protein:decreased expression:oral cavity (human)

PMID:25085076 PMID:26464646

RGD:11526681 RGD:151356936

NCBI chr20:37,477,077...37,515,854
Ensembl chr20:38,572,709...38,615,145

G

peroxiredoxin 2

protein:increased expression:saliva

NCBI chr19:12,359,084...12,363,552
Ensembl chr19:13,103,422...13,107,369

G

phosphatase and tensin homolog

disease_progression

protein:increased expression:oral epithelium (human)

NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605

G

prostaglandin I2 synthase

mRNA,protein:decreased expression:mouth mucosa (human)

NCBI chr20:45,841,238...45,905,641
Ensembl chr20:46,905,665...46,971,612

G

protein tyrosine phosphatase non-receptor type 13

treatment

NCBI chr 4:78,893,598...79,118,745
Ensembl chr 4:89,623,271...89,847,616

G

RAD21 cohesin complex component

exacerbates

mRNA:decreased expression:oral cavity (human)

NCBI chr 8:113,520,456...113,549,339
Ensembl chr 8:116,063,503...116,092,421

G

RELA proto-oncogene, NF-kB subunit

protein:increased expression:mouth (human)

NCBI chr11:61,012,839...61,022,225
Ensembl chr11:64,347,859...64,356,868

G

serpin family E member 1

severity
disease_progression

protein:increased expression:oral mucosa (rat)

PMID:15878520 PMID:24999729

RGD:13208508 RGD:8547730

NCBI chr 7:93,267,517...93,279,728
Ensembl chr 7:106,510,130...106,518,450

G

S-phase kinase associated protein 2

protein:increased expression:mucosa of oral region (human)

NCBI chr 5:74,179,608...74,211,563
Ensembl chr 5:79,461,018...79,492,311

G

solute carrier family 7 member 5

severity

NCBI chr16:68,512,407...68,552,763

G

SRY-box transcription factor 2

protein:increased expression:oral epithelium

NCBI chr 3:178,744,881...178,747,392
Ensembl chr 3:186,922,705...186,923,662

G

telomerase reverse transcriptase

susceptibility

DNA:SNPs: :rs2736100,rs2736098(human)

Ensembl chr 5:1,300,960...1,338,872

G

tet methylcytosine dioxygenase 2

protein:decreased expression:oral epithelium (human)

NCBI chr 4:97,612,439...97,745,544
Ensembl chr 4:108,269,082...108,358,400

G

tumor necrosis factor

disease_progression

associated with social isolation;protein:increased expression:tongue (rat)

NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381

G

tumor protein p53

DNA:missense mutations: :multiple
protein:increased expression:mouth (human)

PMID:27283772 PMID:34111459

RGD:14995497 RGD:153344573

NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120

G

transthyretin

protein:increased expression:saliva (human)

NCBI chr18:24,809,707...24,816,713
Ensembl chr18:28,407,893...28,414,960

G

vascular endothelial growth factor A

protein:increased expression:oral mucosa (human)

NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353

G

Wnt family member 11

susceptibility

DNA:SNP:exon: A>G (rs1533767) (human)

NCBI chr11:71,239,781...71,263,915
Ensembl chr11:74,540,169...74,560,024

Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

R-spondin 1

ClinVar Annotator: match by term: Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX sex reversal | ClinVar Annotator: match by term: RSPO1-related condition

PMID:16158431 PMID:17041600 PMID:25741868 PMID:28492532

NCBI chr 1:36,885,176...36,907,821
Ensembl chr 1:38,231,764...38,256,903

pancreatic adenosquamous carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

transforming growth factor beta 2

ameliorates

human cells in a mouse model

NCBI chr 1:193,907,398...194,005,800
Ensembl chr 1:198,758,751...198,859,041

papillary carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

KISS1 receptor

NCBI chr19:211,563...215,332

G

vascular endothelial growth factor C

disease_progression

associated with thyroid diseases;mRNA:increased expression:thyroid gland:

NCBI chr 4:168,870,941...168,999,160
Ensembl chr 4:181,104,737...181,236,030

papillary renal cell carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

baculoviral IAP repeat containing 3

exacerbates

mRNA:increased expression:kidney (human)

NCBI chr11:97,269,778...97,290,112
Ensembl chr11:100,763,274...100,785,194

G

baculoviral IAP repeat containing 5

disease_progression

mRNA:increased expression:kidney (human)

NCBI chr17:72,292,332...72,303,493
Ensembl chr17:77,842,724...77,854,159

G

B-Raf proto-oncogene, serine/threonine kinase

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

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

NCBI chr 7:132,651,908...132,855,422
Ensembl chr 7:145,138,510...145,327,115

G

HRas proto-oncogene, GTPase

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

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

NCBI chr11:537,488...540,810
Ensembl chr11:568,305...571,078

G

leucine rich repeat containing 56

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

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

NCBI chr11:514,227...559,838
Ensembl chr11:575,495...588,750

G

MET proto-oncogene, receptor tyrosine kinase

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

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

NCBI chr 7:108,646,278...108,772,238
Ensembl chr 7:121,365,438...121,468,159

G

proline rich mitotic checkpoint control factor

NCBI chr 1:132,110,795...132,144,039
Ensembl chr 1:135,933,269...135,966,483

G

von Hippel-Lindau tumor suppressor

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

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

NCBI chr 3:10,077,630...10,089,499
Ensembl chr 3:10,430,143...10,440,234

G

X-linked inhibitor of apoptosis

exacerbates

mRNA:increased expression:kidney (human)

NCBI chr X:113,052,164...113,105,160
Ensembl chr X:123,232,643...123,278,606

papilloma

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 chr11:64,737,006...64,750,353

G

cyclin dependent kinase inhibitor 1A

CTD Direct Evidence: marker/mechanism

PMID:10430900 PMID:11684723 PMID:12151359

RGD:8662351 RGD:8662432

NCBI chr 6:36,241,405...36,250,032
Ensembl chr 6:37,436,990...37,445,599

G

epidermal growth factor receptor

susceptibility

CTD Direct Evidence: marker/mechanism

PMID:8603490 PMID:10943841

NCBI chr 7:55,614,042...55,807,285
Ensembl chr 7:56,046,296...56,111,615

G

erb-b2 receptor tyrosine kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chr17:17,560,337...17,600,808
Ensembl chr17:17,777,434...17,805,862

G

HRas proto-oncogene, GTPase

CTD Direct Evidence: marker/mechanism

NCBI chr11:537,488...540,810
Ensembl chr11:568,305...571,078

G

mitogen-activated protein kinase kinase 4

NCBI chr17:39,497,105...39,622,331
Ensembl chr17:44,248,857...44,359,909

G

matrix metallopeptidase 2

treatment

associated with Skin Neoplasms

NCBI chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279

G

NAD(P)H quinone dehydrogenase 1

CTD Direct Evidence: marker/mechanism

NCBI chr16:50,090,696...50,106,495
Ensembl chr16:69,470,288...69,489,731

G

ornithine decarboxylase 1

CTD Direct Evidence: marker/mechanism

NCBI chr2A:10,443,308...10,451,412
Ensembl chr2A:10,598,125...10,607,152

G

phospholipase A2 group IVA

associated with Bladder Neoplasms;mRNA:increased expression:bladder

NCBI chr 1:162,362,600...162,521,974
Ensembl chr 1:166,512,870...166,672,101

G

prostaglandin E synthase

mRNA:increased expression:urinary bladder

NCBI chr 9:100,865,702...100,880,408
Ensembl chr 9:129,522,547...129,537,020

G

prostaglandin-endoperoxide synthase 2

CTD Direct Evidence: marker/mechanism

PMID:12151359 PMID:16144915

NCBI chr 1:162,205,534...162,214,130
Ensembl chr 1:166,355,845...166,364,519

G

superoxide dismutase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 6:157,562,814...157,610,155
Ensembl chr 6:162,576,082...162,589,960

G

transforming growth factor alpha

CTD Direct Evidence: marker/mechanism

NCBI chr2A:70,510,727...70,617,628
Ensembl chr2A:71,625,196...71,731,461

G

transforming growth factor beta 1

disease_progression

CTD Direct Evidence: marker/mechanism

PMID:7954410 PMID:20172950

NCBI chr19:38,324,009...38,347,003
Ensembl chr19:46,831,659...46,852,973

G

tyrosinase

treatment

NCBI chr11:84,188,557...84,306,686
Ensembl chr11:87,769,606...87,888,138

peritoneal mesothelioma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

large tumor suppressor kinase 2

ClinVar Annotator: match by term: Malignant peritoneal mesothelioma

NCBI chr13:2,300,625...2,389,027
Ensembl chr13:20,611,861...20,683,083

G

MDS1 and EVI1 complex locus

ClinVar Annotator: match by term: Malignant peritoneal mesothelioma

NCBI chr 3:166,099,530...166,677,739
Ensembl chr 3:174,154,814...174,731,252

G

TNF receptor associated factor 7

DNA:missense mutations:multiple

NCBI chr16:1,013,831...1,036,486
Ensembl chr16:2,266,194...2,279,031

pharynx squamous cell carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CLPTM1 like

sexual_dimorphism

in males;DNA:SNP: :rs401681(human)

Ensembl chr 5:1,361,571...1,388,415

sarcomatoid mesothelioma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cyclin dependent kinase inhibitor 2A

DNA:deletion

NCBI chr 9:21,803,862...21,831,322

seborrheic keratosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

annexin A1

NCBI chr 9:51,647,404...51,665,990
Ensembl chr 9:71,929,728...71,948,779

G

fibroblast growth factor receptor 3

ClinVar Annotator: match by term: Keratosis Seborrheica

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

NCBI chr 4:1,933,172...1,948,742
Ensembl chr 4:1,843,774...1,861,692

G

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

ClinVar Annotator: match by term: Keratosis Seborrheica | ClinVar Annotator: match by term: Seborrheic keratosis

PMID:15016963 PMID:15520168 PMID:15608678 PMID:15930273 PMID:17376864 More...

NCBI chr 3:176,182,765...176,272,024
Ensembl chr 3:184,355,785...184,441,977

skin papilloma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

C-C motif chemokine ligand 20

protein:decreased expression:skin

NCBI chr2B:115,052,768...115,056,479
Ensembl chr2B:233,862,505...233,866,225

G

clusterin

NCBI chr 8:26,867,973...26,884,838
Ensembl chr 8:24,070,053...24,083,523

G

fibroblast growth factor 10

protein:increased expression:skin (mouse)

NCBI chr 5:65,979,443...66,069,314
Ensembl chr 5:71,028,187...71,111,706

G

neuregulin 1

DNA:hypermethylation:

NCBI chr 8:30,954,852...32,084,411
Ensembl chr 8:29,050,222...29,263,977

G

toll like receptor 2

protein:increased expression,altered expression:cytoplasm,membrane, nucleus:

NCBI chr 4:146,024,653...146,091,388
Ensembl chr 4:157,866,977...157,869,331

skin squamous cell carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CCCTC-binding factor

DNA:mutations:multiple (human)

NCBI chr16:47,906,503...47,983,271
Ensembl chr16:67,302,952...67,372,041

G

DEAD-box helicase 5

protein:increased expression:foreskin (human)

NCBI chr17:58,594,956...58,603,570
Ensembl chr17:63,689,082...63,696,142

G

FAT atypical cadherin 1

disease_progression

associated with Neoplasm Metastasis

NCBI chr 4:178,752,261...178,895,038
Ensembl chr 4:190,952,737...191,093,357

G

fibroblast growth factor 10

protein:increased expression:skin (mouse)

NCBI chr 5:65,979,443...66,069,314
Ensembl chr 5:71,028,187...71,111,706

G

FYN proto-oncogene, Src family tyrosine kinase

NCBI chr 6:109,469,750...109,684,086
Ensembl chr 6:113,545,944...113,604,451

G

kinetochore localized astrin (SPAG5) binding protein

DNA:mutation:cds: p.Ala40Glu (human)
DNA:mutation:cds: p.Ser24Phe(human)

PMID:25194279 PMID:30972880

RGD:28867225 RGD:28867226

NCBI chr15:19,316,854...19,328,425

G

phosphatase and tensin homolog

ameliorates

NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605

Sporadic Papillary Renal Cell Carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

MYC proto-oncogene, bHLH transcription factor

severity

mRNA:increased expression:renal cortex (human)
protein:increased expression:kidney (human)

PMID:17409424 PMID:19384955

RGD:7240562 RGD:7240563

NCBI chr 8:124,387,561...124,393,551
Ensembl chr 8:127,131,512...127,136,863

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 chr 5:152,839,326...152,972,741
Ensembl chr 5:159,494,786...159,593,171

G

ADAMTS like 3

ClinVar Annotator: match by term: Squamous cell carcinoma

NCBI chr15:61,567,731...61,953,255
Ensembl chr15:81,538,868...81,920,292

G

actin filament associated protein 1 like 2

CTD Direct Evidence: marker/mechanism

NCBI chr10:110,894,774...111,004,373
Ensembl chr10:114,324,736...114,434,148

G

AKT serine/threonine kinase 1

ClinVar Annotator: match by term: Squamous cell carcinoma

NCBI chr14:85,417,229...85,444,722
Ensembl chr14:105,208,128...105,236,756

G

annexin A1

CTD Direct Evidence: marker/mechanism

PMID:8919037 PMID:15274141

NCBI chr 9:51,647,404...51,665,990
Ensembl chr 9:71,929,728...71,948,779

G

annexin A2

CTD Direct Evidence: marker/mechanism

NCBI chr15:39,322,303...39,371,565
Ensembl chr15:57,625,425...57,674,250

G

annexin A5

CTD Direct Evidence: marker/mechanism

NCBI chr 4:113,868,218...113,897,243
Ensembl chr 4:125,006,038...125,034,972

G

APC regulator of WNT signaling pathway

ClinVar Annotator: match by term: Squamous cell carcinoma

NCBI chr 5:108,070,697...108,208,273
Ensembl chr 5:113,904,352...114,009,709

G

apolipoprotein B mRNA editing enzyme catalytic subunit 3B

CTD Direct Evidence: marker/mechanism

NCBI chr22:19,892,548...19,902,455
Ensembl chr22:37,711,588...37,721,265

G

aquaporin 3 (Gill blood group)

CTD Direct Evidence: marker/mechanism

NCBI chr 9:33,221,989...33,228,469
Ensembl chr 9:34,032,983...34,039,438

G

amphiregulin

CTD Direct Evidence: therapeutic

NCBI chr 4:49,737,191...49,747,013
Ensembl chr 4:55,570,299...55,580,142

G

ATM serine/threonine kinase

CTD Direct Evidence: marker/mechanism

NCBI chr11:103,109,979...103,256,405
Ensembl chr11:106,584,228...106,727,041

G

BCL2 apoptosis regulator

disease_progression

Protein:increased expression:tongue;associated with mouth neoplasms

NCBI chr18:56,481,212...56,679,012
Ensembl chr18:59,802,443...59,992,100

G

baculoviral IAP repeat containing 5

CTD Direct Evidence: marker/mechanism

NCBI chr17:72,292,332...72,303,493
Ensembl chr17:77,842,724...77,854,159

G

caveolin 1

NCBI chr 7:108,497,125...108,533,090
Ensembl chr 7:121,193,424...121,229,655

G

C-C motif chemokine ligand 2

CTD Direct Evidence: marker/mechanism

NCBI chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384

G

cyclin D1

susceptibility

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

PMID:18548202 PMID:26432044

NCBI chr11:64,737,006...64,750,353

G

CD163 molecule

ClinVar Annotator: match by term: Squamous cell carcinoma

NCBI chr12:7,616,714...7,649,768
Ensembl chr12:7,775,343...7,810,023

G

cadherin 1

CTD Direct Evidence: marker/mechanism

NCBI chr16:49,108,745...49,206,347
Ensembl chr16:68,502,584...68,596,488

G

cyclin dependent kinase inhibitor 1A

disease_progression

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

PMID:9655223 PMID:11028856

RGD:8662356 RGD:8662856

NCBI chr 6:36,241,405...36,250,032
Ensembl chr 6:37,436,990...37,445,599

G

cyclin dependent kinase inhibitor 2A

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

PMID:15057871 PMID:25125259

NCBI chr 9:21,803,862...21,831,322

G

cyclin dependent kinase inhibitor 2B

protein:decreased expression:skin

NCBI chr 9:21,838,902...21,845,355
Ensembl chr 9:22,455,662...22,462,156

G

CCAAT enhancer binding protein alpha

CTD Direct Evidence: marker/mechanism

PMID:17510391 PMID:21346772

NCBI chr19:30,223,567...30,226,204

G

complement factor H

mRNA:increased expression:skin

NCBI chr 1:172,155,882...172,251,632
Ensembl chr 1:176,455,247...176,525,521

G

cholinergic receptor nicotinic alpha 3 subunit

ClinVar Annotator: match by term: Squamous cell carcinoma

NCBI chr15:57,523,553...57,550,228
Ensembl chr15:76,487,710...76,512,044

G

cholinergic receptor nicotinic alpha 5 subunit

ClinVar Annotator: match by term: Squamous cell carcinoma

NCBI chr15:57,493,730...57,530,463
Ensembl chr15:76,455,165...76,486,376

G

claudin 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:187,328,629...187,345,360
Ensembl chr 3:195,882,239...195,899,248

G

clusterin

severity

NCBI chr 8:26,867,973...26,884,838
Ensembl chr 8:24,070,053...24,083,523

G

CREB binding protein

CTD Direct Evidence: marker/mechanism

NCBI chr16:2,645,445...2,800,975
Ensembl chr16:3,820,519...3,974,206

G

crystallin alpha B

CTD Direct Evidence: marker/mechanism

NCBI chr11:106,795,406...106,800,019
Ensembl chr11:110,639,442...110,644,272

G

casein kinase 2 alpha 1

CTD Direct Evidence: marker/mechanism

NCBI chr20:689,494...752,092
Ensembl chr20:456,629...521,126

G

casein kinase 2 alpha 2

CTD Direct Evidence: marker/mechanism

NCBI chr16:38,426,399...38,466,575
Ensembl chr16:57,557,270...57,596,218

G

casein kinase 2 beta

CTD Direct Evidence: marker/mechanism

NCBI chr 6:31,327,250...31,331,250

G

cytotoxic T-lymphocyte associated protein 4

susceptibility

DNA:SNP: :rs3087243(human)

NCBI chr2B:91,054,917...91,106,234
Ensembl chr2B:209,239,417...209,244,498

G

cortactin

CTD Direct Evidence: marker/mechanism

NCBI chr11:65,500,074...65,539,158
Ensembl chr11:68,794,162...68,823,857

G

C-X-C motif chemokine ligand 8

CTD Direct Evidence: marker/mechanism

NCBI chr 4:50,452,857...50,456,015
Ensembl chr 4:56,286,708...56,288,083

G

cytochrome P450 family 1 subfamily A member 2

CTD Direct Evidence: marker/mechanism

NCBI chr15:53,692,877...53,699,279
Ensembl chr15:73,311,720...73,319,447

G

cytochrome P450 family 1 subfamily B member 1

CTD Direct Evidence: marker/mechanism

NCBI chr2A:38,087,863...38,096,529
Ensembl chr2A:38,851,000...38,859,824

G

dentin sialophosphoprotein

CTD Direct Evidence: marker/mechanism

NCBI chr 4:79,903,923...79,909,836

G

dual specificity phosphatase 1

mRNA:increased expression:saliva

NCBI chr 5:168,121,536...168,124,671
Ensembl chr 5:175,032,803...175,035,960

G

epidermal growth factor receptor

ClinVar Annotator: match by term: Squamous cell carcinoma

NCBI chr 7:55,614,042...55,807,285
Ensembl chr 7:56,046,296...56,111,615

G

early growth response 1

ClinVar Annotator: match by term: Squamous cell carcinoma

NCBI chr 5:133,845,305...133,849,291
Ensembl chr 5:139,975,635...139,979,260

G

enolase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:7,619,490...7,637,558
Ensembl chr 1:8,855,074...8,873,215

G

E1A binding protein p300

CTD Direct Evidence: marker/mechanism

NCBI chr22:21,986,467...22,076,921
Ensembl chr22:40,079,503...40,168,604

G

ERCC excision repair 2, TFIIH core complex helicase subunit

CTD Direct Evidence: marker/mechanism

NCBI chr19:42,298,927...42,319,816
Ensembl chr19:50,897,004...50,915,819

G

ERCC excision repair 6, chromatin remodeling factor

severity

associated with Cockayne Syndrome

NCBI chr10:44,703,720...44,784,948

G

family with sequence similarity 13 member A

ClinVar Annotator: match by term: Squamous cell carcinoma

NCBI chr 4:81,015,773...81,400,333
Ensembl chr 4:91,739,953...92,067,415

G

Fas cell surface death receptor

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

NCBI chr10:85,707,457...85,741,539
Ensembl chr10:89,217,949...89,243,612

G

fibroblast growth factor 7

cervical squamous cell carcinoma; mRNA:increased expression:cervical squamous cells

NCBI chr15:28,378,339...28,442,800
Ensembl chr15:46,702,119...46,770,163

G

fibroblast growth factor receptor 1

CTD Direct Evidence: marker/mechanism

PMID:22286583 PMID:27794399

NCBI chr 8:37,713,133...37,773,098
Ensembl chr 8:34,890,147...34,948,904

G

fibroblast growth factor receptor 2

cervical squamous cell carcinoma; mRNA:increased expression:cervical squamous cells

NCBI chr10:118,055,854...118,175,440
Ensembl chr10:121,469,735...121,588,815

G

fragile histidine triad diadenosine triphosphatase

cervical squamous cell carcinoma; DNA:hypermethylation,loss of heterozygosity:promoter,locus:hypermethylation in 24%, LOH in 10% of tumors

NCBI chr 3:59,670,777...61,177,974

G

fms related receptor tyrosine kinase 1

ClinVar Annotator: match by term: Squamous cell carcinoma

NCBI chr13:9,584,850...9,779,542

G

forkhead box A1

CTD Direct Evidence: marker/mechanism

NCBI chr14:18,347,284...18,352,705

G

forkhead box P2

ClinVar Annotator: match by term: Squamous cell carcinoma

NCBI chr 7:106,040,118...106,648,741
Ensembl chr 7:119,077,332...119,343,893

G

glyceraldehyde-3-phosphate dehydrogenase

CTD Direct Evidence: marker/mechanism

NCBI chr12:6,665,218...6,669,170
Ensembl chr12:6,583,895...6,587,729

G

glutathione peroxidase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:49,280,038...49,281,455
Ensembl chr 3:50,360,947...50,361,826

G

glycine rich extracellular protein 1

CTD Direct Evidence: marker/mechanism

G

glutathione S-transferase mu 1

CTD Direct Evidence: marker/mechanism

Ensembl chr 1:127,979,238...128,010,411

G

glutathione S-transferase pi 1

NCBI chr11:62,942,756...62,945,701
Ensembl chr11:66,253,421...66,256,472

G

hydroxycarboxylic acid receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr12:120,305,297...120,308,463

G

histone deacetylase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:31,578,373...31,619,970
Ensembl chr 1:32,585,791...32,626,410

G

histone deacetylase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 6:111,731,139...111,761,826
Ensembl chr 6:115,802,367...115,833,004

G

hepatocyte growth factor

CTD Direct Evidence: therapeutic

NCBI chr 7:73,667,618...73,738,960
Ensembl chr 7:87,327,798...87,397,811

G

HRas proto-oncogene, GTPase

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

PMID:8453633 PMID:24224046 PMID:25125259

NCBI chr11:537,488...540,810
Ensembl chr11:568,305...571,078

G

heat shock protein family A (Hsp70) member 8

CTD Direct Evidence: marker/mechanism

NCBI chr11:117,890,545...117,895,262
Ensembl chr11:121,809,800...121,815,773

G

heat shock protein family B (small) member 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:67,716,021...67,717,762
Ensembl chr 7:82,751,523...82,752,984

G

5-hydroxytryptamine receptor 4

ClinVar Annotator: match by term: Squamous cell carcinoma

NCBI chr 5:143,918,925...144,208,779
Ensembl chr 5:149,889,969...150,108,357

G

interleukin 2

treatment

NCBI chr 4:114,637,328...114,642,586
Ensembl chr 4:125,782,563...125,787,984

G

interleukin 6

CTD Direct Evidence: marker/mechanism

NCBI chr 7:23,415,922...23,420,767

G

inhibitor of growth family member 1

squamous cell carcinoma of the head and neck, OMIM:275355 DNA:point_mutation:CDS:G->C in exon 2, amino acid cys215ser

NCBI chr13:91,849,153...91,856,943
Ensembl chr13:110,963,405...110,970,691

G

inositol polyphosphate-5-phosphatase A

CTD Direct Evidence: marker/mechanism

Ensembl chr10:133,437,718...133,681,116

G

interleukin 1 receptor associated kinase 1

disease_progression

NCBI chr X:143,560,802...143,570,185
Ensembl chr X:153,446,827...153,460,602

G

integrin subunit alpha 5

CTD Direct Evidence: marker/mechanism

NCBI chr12:34,326,182...34,350,050
Ensembl chr12:35,052,994...35,075,835

G

integrin subunit beta 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:33,023,573...33,081,384
Ensembl chr10:33,608,978...33,644,031

G

involucrin

CTD Direct Evidence: marker/mechanism

NCBI chr 1:128,254,139...128,256,893

G

kinase insert domain receptor

NCBI chr 4:68,813,894...68,861,018
Ensembl chr 4:75,377,375...75,427,109

G

KIT ligand

Squamous cell carcinoma of the digit

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

NCBI chr12:86,036,501...86,124,274
Ensembl chr12:89,341,921...89,436,758

G

KLF transcription factor 5

CTD Direct Evidence: marker/mechanism

G

lysine methyltransferase 2C

severity

DNA:mutations:multiple (human)

NCBI chr 7:143,714,716...144,016,188
Ensembl chr 7:155,862,610...156,081,043

G

kinetochore localized astrin (SPAG5) binding protein

CTD Direct Evidence: marker/mechanism

NCBI chr15:19,316,854...19,328,425

G

KRAS proto-oncogene, GTPase

CTD Direct Evidence: marker/mechanism

PMID:19435901 PMID:25125259

NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335

G

keratin 10

CTD Direct Evidence: marker/mechanism

NCBI chr17:16,461,624...16,466,136
Ensembl chr17:16,686,898...16,690,415

G

leucine rich repeat containing G protein-coupled receptor 6

CTD Direct Evidence: marker/mechanism

NCBI chr 1:177,789,079...177,917,234
Ensembl chr 1:182,101,420...182,214,825

G

keratin, type II cytoskeletal 1

CTD Direct Evidence: marker/mechanism

NCBI chr12:36,083,858...36,089,521
Ensembl chr12:36,861,585...36,866,725

G

interferon alpha-2

CTD Direct Evidence: therapeutic

NCBI chr 9:21,245,017...21,246,210
Ensembl chr 9:21,863,062...21,863,736

G

keratin, type I cytoskeletal 14

CTD Direct Evidence: marker/mechanism

NCBI chr17:15,730,066...15,734,665
Ensembl chr17:15,948,596...15,953,191

G

hydroxycarboxylic acid receptor 3

CTD Direct Evidence: marker/mechanism

NCBI chr12:120,318,905...120,322,068
Ensembl chr12:124,553,940...124,555,103

G

keratin, type II cytoskeletal 6B

CTD Direct Evidence: marker/mechanism

NCBI chr12:36,312,149...36,317,586
Ensembl chr12:37,089,376...37,094,087

G

loricrin cornified envelope precursor protein

CTD Direct Evidence: marker/mechanism

NCBI chr 1:128,607,506...128,608,808

G

leukotriene A4 hydrolase

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

NCBI chr12:93,589,758...93,624,529
Ensembl chr12:96,978,203...97,012,427

G

leucine zipper tumor suppressor 1

esophageal squamous cell carcinoma, OMIM:133239

NCBI chr 8:19,471,361...19,529,437
Ensembl chr 8:16,418,496...16,476,111

G

mal, T cell differentiation protein

CTD Direct Evidence: marker/mechanism

NCBI chr2A:104,355,020...104,382,849
Ensembl chr2A:95,930,315...95,956,573

G

mesencephalic astrocyte derived neurotrophic factor

susceptibility

NCBI chr 3:51,315,948...51,320,022
Ensembl chr 3:52,548,933...52,554,343

G

mitogen-activated protein kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr22:3,883,119...3,990,368
Ensembl chr22:20,365,487...20,450,335

G

mitogen-activated protein kinase 3

CTD Direct Evidence: marker/mechanism

Ensembl chr16:30,489,362...30,498,017

G

MET proto-oncogene, receptor tyrosine kinase

CTD Direct Evidence: marker/mechanism

NCBI chr 7:108,646,278...108,772,238
Ensembl chr 7:121,365,438...121,468,159

G

mutL homolog 1

ClinVar Annotator: match by term: Squamous cell carcinoma

NCBI chr 3:36,899,828...36,957,076
Ensembl chr 3:37,189,439...37,245,801

G

matrix metallopeptidase 2

protein:increased expression:nasal mucosa

NCBI chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279

G

matrix metallopeptidase 9

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

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

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

NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129

G

mitochondrial ribosomal protein L13

CTD Direct Evidence: marker/mechanism

NCBI chr 8:117,087,845...117,135,142
Ensembl chr 8:119,856,492...119,903,642

G

membrane spanning 4-domains A1

CTD Direct Evidence: marker/mechanism

NCBI chr11:55,691,750...55,706,697
Ensembl chr11:59,134,617...59,149,521

G

metallothionein 1X

CTD Direct Evidence: marker/mechanism

NCBI chr16:36,959,854...36,961,632
Ensembl chr16:56,092,218...56,093,976

G

methylenetetrahydrofolate reductase

susceptibility

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

NCBI chr 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419

G

mucin 5AC, oligomeric mucus/gel-forming

ClinVar Annotator: match by term: Squamous cell carcinoma

NCBI chr11:1,191,223...1,234,373

G

MYC proto-oncogene, bHLH transcription factor

CTD Direct Evidence: marker/mechanism

NCBI chr 8:124,387,561...124,393,551
Ensembl chr 8:127,131,512...127,136,863

G

nuclear receptor coactivator 3

CTD Direct Evidence: marker/mechanism

NCBI chr20:43,838,227...43,992,407
Ensembl chr20:45,000,422...45,073,549

G

NFE2 like bZIP transcription factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr2B:64,509,446...64,544,600
Ensembl chr2B:182,214,116...182,248,085

G

NK2 homeobox 1

ClinVar Annotator: match by term: Squamous cell carcinoma

G

NLR family pyrin domain containing 3

ClinVar Annotator: match by term: Squamous cell carcinoma

NCBI chr 1:223,052,307...223,084,736
Ensembl chr 1:228,505,147...228,537,216

G

NME/NM23 nucleoside diphosphate kinase 1

severity

protein:decreased expression:tumor (human)

NCBI chr17:45,243,588...45,252,135
Ensembl chr17:50,113,622...50,131,636

G

notch receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:107,568,670...107,621,032
Ensembl chr 9:136,544,639...136,598,740

G

notch receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:82,457,829...82,615,142
Ensembl chr 1:117,538,243...117,612,840

G

notch receptor 3

CTD Direct Evidence: marker/mechanism

NCBI chr19:14,692,571...14,733,758
Ensembl chr19:15,678,674...15,715,080

G

notch receptor 4

CTD Direct Evidence: marker/mechanism

NCBI chr 6:31,842,233...31,871,412
Ensembl chr 6:32,722,112...32,750,978

G

OCA2 melanosomal transmembrane protein

susceptibility

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

NCBI chr15:1,811,728...2,192,018
Ensembl chr15:25,181,386...25,523,774

G

8-oxoguanine DNA glycosylase

NCBI chr 3:9,702,311...9,742,283
Ensembl chr 3:9,940,955...9,947,335

G

phosphoglycerate mutase 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:94,048,829...94,056,082
Ensembl chr10:97,542,558...97,549,867

G

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

CTD Direct Evidence: marker/mechanism

NCBI chr 3:176,182,765...176,272,024
Ensembl chr 3:184,355,785...184,441,977

G

plasminogen activator, urokinase

severity

mRNA:increased expression:oral cavity (human)

NCBI chr10:70,433,340...70,441,569
Ensembl chr10:73,105,895...73,113,136

G

peptidylprolyl isomerase A

CTD Direct Evidence: marker/mechanism

NCBI chr 7:45,510,450...45,515,448
Ensembl chr 7:45,578,765...45,605,545

G

protein kinase, DNA-activated, catalytic subunit

CTD Direct Evidence: marker/mechanism

NCBI chr 8:44,201,391...44,386,803
Ensembl chr 8:41,593,029...41,778,299

G

phosphoribosyl transferase domain containing 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:25,023,015...25,127,770
Ensembl chr10:25,393,227...25,497,054

G

phosphatase and tensin homolog

ClinVar Annotator: match by term: Squamous cell carcinoma

NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605

G

prostaglandin E receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr19:14,035,876...14,038,812

G

prostaglandin-endoperoxide synthase 2

CTD Direct Evidence: marker/mechanism

PMID:16543248 PMID:18202791

NCBI chr 1:162,205,534...162,214,130
Ensembl chr 1:166,355,845...166,364,519

G

protein tyrosine kinase 2

CTD Direct Evidence: marker/mechanism|therapeutic

PMID:21401805 PMID:25199511

NCBI chr 8:137,330,777...137,677,306
Ensembl chr 8:140,412,773...140,684,898

G

protein tyrosine phosphatase non-receptor type 11

CTD Direct Evidence: marker/mechanism

NCBI chr12:110,016,364...110,107,462
Ensembl chr12:113,435,669...113,503,762

G

PYD and CARD domain containing

CTD Direct Evidence: marker/mechanism

NCBI chr16:23,764,386...23,765,732
Ensembl chr16:31,571,363...31,573,828

G

receptor for activated C kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:176,462,991...176,470,153
Ensembl chr 5:183,712,665...183,720,128

G

RAD52 homolog, DNA repair protein

CTD Direct Evidence: marker/mechanism

NCBI chr12:986,372...1,066,708
Ensembl chr12:946,825...985,668

G

retinoic acid receptor beta

CTD Direct Evidence: marker/mechanism

NCBI chr 3:24,729,220...25,499,187
Ensembl chr 3:25,660,922...25,833,297

G

RAS p21 protein activator 1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:27,980,907...28,104,368
Ensembl chr 5:28,115,159...28,240,321

G

RB transcriptional corepressor 1

ClinVar Annotator: match by term: Squamous cell carcinoma

NCBI chr13:29,453,872...29,624,665
Ensembl chr13:48,155,795...48,324,575

G

Ras and Rab interactor 3

ClinVar Annotator: match by term: Squamous cell carcinoma

NCBI chr14:73,148,000...73,322,798
Ensembl chr14:92,488,770...92,662,415

G

receptor interacting serine/threonine kinase 1

NCBI chr 6:2,893,802...2,943,162
Ensembl chr 6:2,997,343...3,045,078

G

ring finger protein 168

CTD Direct Evidence: marker/mechanism

NCBI chr 3:193,814,785...193,848,620
Ensembl chr 3:203,756,589...203,790,687

G

ring finger protein 6

NCBI chr13:7,505,669...7,515,542
Ensembl chr13:25,854,765...25,864,629

G

ROS proto-oncogene 1, receptor tyrosine kinase

ClinVar Annotator: match by term: Squamous cell carcinoma

NCBI chr 6:115,095,753...115,234,525
Ensembl chr 6:119,238,419...119,376,053

G

retinoid isomerohydrolase RPE65

mRNA:decreased expression:skin (human)

NCBI chr 1:67,666,784...67,687,891
Ensembl chr 1:69,623,775...69,644,904

G

SEM1, 26S proteasome complex subunit

CTD Direct Evidence: marker/mechanism

NCBI chr 7:88,647,366...88,668,476

G

serpin family A member 1

ClinVar Annotator: match by term: Squamous cell carcinoma

PMID:27296815 PMID:27993330 PMID:36367950

NCBI chr14:75,001,714...75,014,214
Ensembl chr14:94,334,258...94,345,419

G

stratifin

CTD Direct Evidence: marker/mechanism

NCBI chr 1:26,126,212...26,127,761
Ensembl chr 1:27,182,834...27,183,580

G

sirtuin 3

CTD Direct Evidence: marker/mechanism

NCBI chr11:210,052...233,969
Ensembl chr11:255,191...278,732

G

solute carrier family 45 member 2

CTD Direct Evidence: marker/mechanism

NCBI chr 5:76,357,549...76,398,571
Ensembl chr 5:81,743,254...81,784,565

G

superoxide dismutase 2

CTD Direct Evidence: marker/mechanism|therapeutic

PMID:12543247 PMID:15274141

NCBI chr 6:157,562,814...157,610,155
Ensembl chr 6:162,576,082...162,589,960

G

SRY-box transcription factor 2

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

PMID:19801978 PMID:23518916

NCBI chr 3:178,744,881...178,747,392
Ensembl chr 3:186,922,705...186,923,662

G

signal transducer and activator of transcription 3

disease_progression

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

PMID:16043897 PMID:17566705 PMID:26432044

NCBI chr17:14,928,689...15,003,644
Ensembl chr17:15,152,358...15,227,067

G

serine/threonine kinase 11

ClinVar Annotator: match by term: Squamous cell carcinoma

Ensembl chr19:1,188,537...1,210,677

G

telomeric repeat binding factor 1

NCBI chr 8:69,545,115...69,583,997

G

tet methylcytosine dioxygenase 2

ClinVar Annotator: match by term: Squamous cell carcinoma

NCBI chr 4:97,612,439...97,745,544
Ensembl chr 4:108,269,082...108,358,400

G

transforming growth factor beta 1

CTD Direct Evidence: marker/mechanism

NCBI chr19:38,324,009...38,347,003
Ensembl chr19:46,831,659...46,852,973

G

TIAM Rac1 associated GEF 1

CTD Direct Evidence: marker/mechanism

NCBI chr21:17,483,273...17,925,301
Ensembl chr21:30,868,308...31,016,883

G

toll like receptor 4

ClinVar Annotator: match by term: Squamous cell carcinoma

NCBI chr 9:88,827,495...88,840,458
Ensembl chr 9:117,180,550...117,190,711

G

TNF receptor superfamily member 1A

NCBI chr12:6,457,617...6,470,969
Ensembl chr12:6,374,257...6,387,613

G

tumor protein p53

ClinVar Annotator: match by term: Epidermoid carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma

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

NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120

G

tumor protein p63

CTD Direct Evidence: marker/mechanism

NCBI chr 3:186,651,879...186,918,300
Ensembl chr 3:195,199,167...195,474,104

G

triosephosphate isomerase 1

CTD Direct Evidence: marker/mechanism

NCBI chr12:6,999,275...7,002,678
Ensembl chr12:6,910,813...6,913,612

G

TSC complex subunit 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:104,007,708...104,060,938
Ensembl chr 9:132,638,003...132,675,759

G

TSC complex subunit 2

CTD Direct Evidence: marker/mechanism

NCBI chr16:615,776...655,411
Ensembl chr16:2,135,696...2,175,569

G

thymidylate synthetase

CTD Direct Evidence: marker/mechanism

NCBI chr18:13,653,085...13,668,478
Ensembl chr18:17,295,182...17,310,320

G

ubiquitin like modifier activating enzyme 1

CTD Direct Evidence: marker/mechanism

NCBI chr X:39,627,753...39,652,023
Ensembl chr X:47,493,331...47,509,654

G

ubiquitin like modifier activating enzyme 7

CTD Direct Evidence: marker/mechanism

NCBI chr 3:49,737,015...49,745,783
Ensembl chr 3:50,973,211...50,981,997

G

uridine monophosphate synthetase

CTD Direct Evidence: marker/mechanism

NCBI chr 3:121,832,758...121,851,707
Ensembl chr 3:128,731,355...128,745,029

G

voltage dependent anion channel 2

CTD Direct Evidence: marker/mechanism

NCBI chr10:71,739,395...71,763,835

G

vitamin D receptor

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

PMID:16950800 PMID:22213323

RGD:8158063 RGD:8158080

NCBI chr12:40,828,413...40,891,700
Ensembl chr12:41,702,742...41,766,192

G

vascular endothelial growth factor A

CTD Direct Evidence: marker/mechanism

PMID:15956251 PMID:26432044

NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353

G

WW domain containing oxidoreductase

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

PMID:11956080 PMID:17575124

NCBI chr16:58,689,609...59,800,333
Ensembl chr16:78,125,302...79,231,546

G

XPC complex subunit, DNA damage recognition and repair factor

CTD Direct Evidence: marker/mechanism

NCBI chr 3:14,063,499...14,097,023
Ensembl chr 3:14,403,958...14,437,377

G

X-ray repair cross complementing 5

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

NCBI chr2B:103,371,459...103,468,419
Ensembl chr2B:221,972,742...222,071,235

G

X-ray repair cross complementing 6

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

NCBI chr22:22,516,281...22,557,379
Ensembl chr22:40,603,038...40,643,314

tongue squamous cell carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adenosine deaminase

protein:increased activity:saliva:

NCBI chr20:40,950,238...40,982,481
Ensembl chr20:42,044,613...42,076,868

G

adiponectin, C1Q and collagen domain containing

disease_progression

protein:decreased expression:serum

NCBI chr 3:183,876,051...183,889,723
Ensembl chr 3:192,341,320...192,354,885

G

BCL2 apoptosis regulator

protein:increased expression:tongue (human)

NCBI chr18:56,481,212...56,679,012
Ensembl chr18:59,802,443...59,992,100

G

baculoviral IAP repeat containing 2

exacerbates

protein:increased expression:tongue (human)

NCBI chr11:97,298,736...97,324,966
Ensembl chr11:100,793,036...100,822,421

G

BMP/retinoic acid inducible neural specific 3

mRNA:decreased expression:tongue:

NCBI chr 1:165,586,510...165,972,173
Ensembl chr 1:169,873,541...170,258,015

G

caveolin 2

protein:increased expression:mucosa of tongue

NCBI chr 7:108,254,074...108,480,716
Ensembl chr 7:121,168,579...121,177,415

G

cyclin D1

protein:increased expression:tongue (human)

NCBI chr11:64,737,006...64,750,353

G

cyclin dependent kinase inhibitor 1A

disease_progression

NCBI chr 6:36,241,405...36,250,032
Ensembl chr 6:37,436,990...37,445,599

G

C-X-C motif chemokine ligand 8

mRNA:increased expression:head, neck (human)

NCBI chr 4:50,452,857...50,456,015
Ensembl chr 4:56,286,708...56,288,083

G

epidermal growth factor receptor

treatment

NCBI chr 7:55,614,042...55,807,285
Ensembl chr 7:56,046,296...56,111,615

G

erb-b2 receptor tyrosine kinase 3

disease_progression

NCBI chr12:32,811,533...32,834,958
Ensembl chr12:33,063,434...33,084,994

G

erb-b2 receptor tyrosine kinase 4

severity

NCBI chr2B:98,625,630...99,795,371
Ensembl chr2B:217,069,644...218,272,006

G

FA complementation group B

NCBI chr X:7,470,574...7,500,958
Ensembl chr X:14,752,934...14,781,817

G

FA complementation group C

NCBI chr 9:66,201,581...66,418,229
Ensembl chr 9:94,329,971...94,477,198

G

FA complementation group F

mRNA:decreased expression:tongue:

NCBI chr11:22,634,301...22,637,885
Ensembl chr11:22,544,052...22,545,176

G

FA complementation group G

NCBI chr 9:34,924,399...34,931,077
Ensembl chr 9:35,730,176...35,736,648

G

FA complementation group I

NCBI chr15:67,935,882...68,009,033
Ensembl chr15:87,142,871...87,215,271

G

FA complementation group L

NCBI chr2A:58,270,620...58,353,001
Ensembl chr2A:59,418,265...59,499,496

G

FA complementation group M

NCBI chr14:25,752,295...25,817,001
Ensembl chr14:44,080,146...44,143,958

G

Fos proto-oncogene, AP-1 transcription factor subunit

mRNA,protein:increased expression:tongue (human)

NCBI chr14:55,832,570...55,835,984
Ensembl chr14:74,676,316...74,679,766

G

FosB proto-oncogene, AP-1 transcription factor subunit

protein:increased expression:tongue (human)

NCBI chr19:42,416,781...42,424,003
Ensembl chr19:51,013,350...51,020,570

G

FOS like 1, AP-1 transcription factor subunit

protein:decreased expression:tongue (human)

NCBI chr11:61,252,513...61,261,032
Ensembl chr11:64,581,841...64,589,304

G

FOS like 2, AP-1 transcription factor subunit

mRNA,protein:increased expression:tongue (human)

NCBI chr2A:28,392,328...28,416,838
Ensembl chr2A:28,485,613...28,498,397

G

far upstream element binding protein 1

exacerbates

mRNA, protein:increased expression:tongue (human)

NCBI chr 1:77,162,675...77,198,486

G

gap junction protein alpha 1

protein:decreased expression:epithelium

NCBI chr 6:119,213,513...119,227,617

G

hepatocyte growth factor

protein:increased expression:tongue:

NCBI chr 7:73,667,618...73,738,960
Ensembl chr 7:87,327,798...87,397,811

G

interferon gamma

disease_progression

protein:decreased expression:serum:

NCBI chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829

G

interleukin 10

disease_progression

protein:increased expression:serum:

NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371

G

interleukin 1 receptor like 1

disease_progression

G

interleukin 2

protein:decreased expression:serum:

NCBI chr 4:114,637,328...114,642,586
Ensembl chr 4:125,782,563...125,787,984

G

interleukin 33

disease_progression

NCBI chr 9:6,027,014...6,069,540
Ensembl chr 9:6,234,178...6,248,624

G

Janus kinase 3

disease_progression

NCBI chr19:17,299,129...17,330,700
Ensembl chr19:18,283,560...18,300,964

G

Jun proto-oncogene, AP-1 transcription factor subunit

mRNA,protein:increased expression:tongue (human)

NCBI chr 1:58,042,794...58,045,536

G

JunB proto-oncogene, AP-1 transcription factor subunit

protein:increased expression:tongue (human)

NCBI chr19:12,353,760...12,355,598
Ensembl chr19:13,097,931...13,098,974

G

JunD proto-oncogene, AP-1 transcription factor subunit

protein:increased expression:tongue (human)

NCBI chr19:17,755,331...17,757,164

G

kinase insert domain receptor

treatment

NCBI chr 4:68,813,894...68,861,018
Ensembl chr 4:75,377,375...75,427,109

G

mitogen-activated protein kinase kinase 4

mRNA:increased expression:tongue squamous epithelium (human)

NCBI chr17:39,497,105...39,622,331
Ensembl chr17:44,248,857...44,359,909

G

MET proto-oncogene, receptor tyrosine kinase

protein:increased expression:tongue:

NCBI chr 7:108,646,278...108,772,238
Ensembl chr 7:121,365,438...121,468,159

G

matrix metallopeptidase 9

protein:increased expression:tongue (human)

NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129

G

microtubule associated scaffold protein 1

disease_progression

NCBI chr 8:16,863,307...17,020,684

G

solute carrier family 1 member 5

disease_progression

NCBI chr19:43,765,001...43,778,981
Ensembl chr19:52,294,655...52,307,529

G

solute carrier family 3 member 2

disease_progression

NCBI chr11:58,212,395...58,241,686
Ensembl chr11:61,565,680...61,594,579

G

solute carrier family 7 member 11

severity

NCBI chr 4:130,529,677...130,601,396
Ensembl chr 4:141,849,343...141,959,849

G

solute carrier family 7 member 5

disease_progression

NCBI chr16:68,512,407...68,552,763

G

SRY-box transcription factor 2

disease_progression

NCBI chr 3:178,744,881...178,747,392
Ensembl chr 3:186,922,705...186,923,662

G

tumor protein p53

protein:increased expression:tongue:

NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120

tonsil squamous cell carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

fibroblast growth factor receptor 3

severity

associated with human papillomavirus;protein:decreased expression:tumor cells (human)

NCBI chr 4:1,933,172...1,948,742
Ensembl chr 4:1,843,774...1,861,692

vulva squamous cell carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cell division cycle 25A

protein:increased expression:vulva

NCBI chr 3:48,068,601...48,099,806
Ensembl chr 3:49,154,307...49,186,115

G

cell division cycle 25B

disease_progression

protein:increased expression:vulva

NCBI chr20:3,877,255...3,883,458
Ensembl chr20:3,626,107...3,645,179

G

cell division cycle 25C

disease_progression

protein:increased expression:vulva

NCBI chr 5:133,663,210...133,717,974
Ensembl chr 5:139,795,565...139,842,698

G

stratifin

DNA, mRNA:hypermethylation, decreased expression:vulva

NCBI chr 1:26,126,212...26,127,761
Ensembl chr 1:27,182,834...27,183,580

WHIM syndrome 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

C-X-C motif chemokine receptor 4

ClinVar Annotator: match by term: CXCR4-related condition | ClinVar Annotator: match by term: WHIM syndrome 1

PMID:12692554 PMID:15026312 PMID:15536153 PMID:16275383 PMID:16899028 More...

NCBI chr2B:23,744,271...23,748,106
Ensembl chr2B:140,181,829...140,189,647

Term paths to the root

Path 1
Term	Annotations
disease	15834
disease of cellular proliferation	7466
benign neoplasm	2137
cell type benign neoplasm	1883
squamous cell neoplasm	642
acanthoma +	5
papillary carcinoma +	12
papilloma +	67
squamous cell carcinoma +	601
verrucous carcinoma +	0

paths to the root