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.

show annotations for term's descendants Sort by:
Rat (718) Mouse (686) Human (5040) Chinchilla (598) Bonobo (642) Dog (665) Squirrel (600) Pig (650) Green Monkey (633) Naked Mole-rat (587) All
Genes (657) Cell Lines (8)

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 chr25:7,734,450...7,797,851
Ensembl chr25:7,734,453...7,797,815

G

checkpoint kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chr26:22,052,256...22,145,675
Ensembl chr26:21,427,961...22,240,624

G

serine/threonine kinase receptor associated protein

NCBI chr27:30,800,853...30,817,578
Ensembl chr27:30,675,247...30,817,388

G

tumor protein p63

CTD Direct Evidence: marker/mechanism

NCBI chr34:21,766,861...21,985,095
Ensembl chr34:21,766,496...21,983,046

adenoid squamous cell carcinoma

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Object Name

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Notes

Source

PubMed Reference(s)

RGD Reference(s)

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G

HNF1 homeobox A

NCBI chr26:16,805,690...16,826,065
Ensembl chr26:16,805,690...16,824,790

adenosquamous gallbladder carcinoma

term browser

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Object Name

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PubMed Reference(s)

RGD Reference(s)

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G

discoidin domain receptor tyrosine kinase 2

disease_progression

NCBI chr38:20,002,984...20,152,930
Ensembl chr38:20,008,057...20,152,275

G

interferon-induced transmembrane protein 1

disease_progression

NCBI chr18:25,494,018...25,495,114

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 chr 7:57,940,354...57,947,084
Ensembl chr 7:57,914,381...57,947,058

anogenital venereal wart

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

B9 domain containing 2

mRNA,protein:increased expression:multiple (human)

NCBI chr 1:112,621,832...112,627,726
Ensembl chr 1:112,621,633...112,643,885

G

C-C motif chemokine ligand 20

protein:decreased expression:skin

NCBI chr25:40,506,385...40,509,903
Ensembl chr25:40,506,753...40,509,709

G

CD8 subunit alpha

mRNA:decreased expression:zone of skin (human)

NCBI chr17:38,396,022...38,400,508
Ensembl chr17:38,369,414...38,400,508

G

cytotoxic T-lymphocyte associated protein 4

mRNA,protein:increased expression:multiple (human)

NCBI chr37:12,647,712...12,653,874
Ensembl chr37:12,634,563...12,653,874

G

forkhead box P3

mRNA,protein:increased expression:multiple (human)

NCBI chr X:42,331,229...42,362,841
Ensembl chr X:42,344,108...42,350,758

G

interleukin 10

mRNA,protein:increased expression:multiple (human)

NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057

G

interleukin 12B

treatment

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

PMID:16114559 PMID:23754510

RGD:40400714 RGD:7829774

NCBI chr 4:51,178,637...51,194,606
Ensembl chr 4:51,183,568...51,193,228

G

interleukin 2

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

NCBI chr19:17,750,780...17,756,394
Ensembl chr19:17,750,780...17,756,394

G

interleukin 21

protein:decreased expression:blood serum (human)

NCBI chr19:17,641,833...17,651,275
Ensembl chr19:17,641,833...17,651,266

G

interleukin 4

treatment

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

PMID:16114559 PMID:23754510

RGD:40400714 RGD:7829774

NCBI chr11:20,972,693...20,981,539
Ensembl chr11:20,972,690...20,981,534

G

interleukin 6

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

NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519

G

killer cell lectin like receptor K1

mRNA,protein:decreased expression:multiple (human)

NCBI chr27:35,634,938...35,658,978
Ensembl chr27:35,639,280...35,658,882

G

mitogen-activated protein kinase 8

treatment

mRNA:increased expression:zone of skin (human)

NCBI chr28:323,361...410,367
Ensembl chr28:368,513...406,401

G

MYD88 innate immune signal transduction adaptor

mRNA,protein:increased expression:multiple (human)

NCBI chr23:7,901,578...7,905,274
Ensembl chr23:7,901,250...7,904,534

G

natural cytotoxicity triggering receptor 1

mRNA,protein:decreased expression:multiple (human)

NCBI chr 1:102,686,058...102,690,350
Ensembl chr 1:102,686,058...102,690,620

G

programmed cell death 1

mRNA,protein:increased expression:multiple (human)

NCBI chr25:51,606,559...51,618,903
Ensembl chr25:51,608,173...51,618,723

G

protein tyrosine phosphatase non-receptor type 11

protein:increased expression:foreskin

NCBI chr26:9,989,218...10,072,245
Ensembl chr26:9,989,425...10,067,481

G

protein tyrosine phosphatase non-receptor type 6

protein:increased expression:foreskin

NCBI chr27:38,084,976...38,101,552
Ensembl chr27:38,084,980...38,101,937

G

serpin family F member 1

disease_progression

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

NCBI chr 9:45,891,368...45,902,768
Ensembl chr 9:45,891,410...45,902,765

G

toll like receptor 2

mRNA,protein:increased expression:multiple (human)

NCBI chr15:51,454,557...51,465,429
Ensembl chr15:51,454,695...51,465,241

G

toll like receptor 3

mRNA,protein:increased expression:multiple (human)

NCBI chr16:44,617,012...44,633,591
Ensembl chr16:44,550,846...44,653,247

G

toll like receptor 4

mRNA,protein:increased expression:multiple (human)

NCBI chr11:71,356,390...71,367,166
Ensembl chr11:71,356,390...71,367,165

G

toll like receptor 7

mRNA,protein:increased expression:multiple (human)

NCBI chr X:9,331,243...9,360,461
Ensembl chr X:9,314,815...9,359,603

G

toll like receptor 8

mRNA,protein:increased expression:multiple (human)

NCBI chr X:9,381,159...9,399,938

G

toll like receptor 9

mRNA,protein:increased expression:multiple (human)

NCBI chr20:37,529,322...37,547,117
Ensembl chr20:37,542,340...37,547,114
Ensembl chr20:37,542,340...37,547,114

G

tumor necrosis factor

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

NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425

G

TNF receptor superfamily member 18

mRNA,protein:increased expression:multiple (human)

NCBI chr 5:56,394,559...56,397,502
Ensembl chr 5:56,394,659...56,397,741

basaloid squamous cell carcinoma

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RGD Reference(s)

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G

patched 1

DNA:missense mutations, nonsense mutations

NCBI chr 1:71,246,750...71,309,036
Ensembl chr 1:71,238,195...71,305,662

bladder squamous cell carcinoma

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G

phosphatase and tensin homolog

disease_progression

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

NCBI chr26:37,853,148...37,913,176
Ensembl chr26:37,835,661...37,913,176

Bowen's Disease

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G

cyclin D1

CTD Direct Evidence: marker/mechanism

NCBI chr18:48,501,905...48,509,684
Ensembl chr18:48,501,899...48,516,005

G

cyclin E1

associated with Vulvar Neoplasms;mRNA:increased expression:vulva

NCBI chr 1:121,688,622...121,697,533
Ensembl chr 1:121,688,796...121,697,649

G

cyclin dependent kinase inhibitor 1A

protein:increased expression:skin:

NCBI chr12:5,746,898...5,755,103
Ensembl chr12:5,745,852...5,892,281

G

nuclear respiratory factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr14:7,085,018...7,218,802
Ensembl chr14:7,085,791...7,193,034

G

PPARG coactivator 1 alpha

CTD Direct Evidence: marker/mechanism

NCBI chr 3:85,645,942...86,284,570
Ensembl chr 3:86,016,140...86,281,269

G

transcription factor A, mitochondrial

CTD Direct Evidence: marker/mechanism

NCBI chr 4:10,585,320...10,600,664
Ensembl chr 4:10,585,480...10,598,058

bowenoid papulosis

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PubMed Reference(s)

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G

baculoviral IAP repeat containing 2

mRNA:increased expression:perianal skin (human)

NCBI chr 5:29,294,080...29,314,837
Ensembl chr 5:29,294,692...29,312,771

G

baculoviral IAP repeat containing 3

mRNA:increased expression:perianal skin (human)

NCBI chr 5:29,324,893...29,343,322
Ensembl chr 5:29,325,331...29,337,240

Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, and Keratoderma

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Object Name

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PubMed 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 1:39,221,243...39,478,057
Ensembl chr 1:39,146,020...39,476,914

cervical squamous cell carcinoma

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G

adenosine deaminase RNA specific

disease_progression

protein:increased expression:cervix squamous epithelium (human)

NCBI chr 7:42,762,021...42,785,192
Ensembl chr 7:42,748,136...42,782,999

G

BCL2 associated X, apoptosis regulator

protein:increased expression:uterine cervix

NCBI chr 1:107,423,388...107,426,464
Ensembl chr 1:107,422,424...107,426,464

G

baculoviral IAP repeat containing 2

disease_progression

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

NCBI chr 5:29,294,080...29,314,837
Ensembl chr 5:29,294,692...29,312,771

G

BRCA1 interacting helicase 1

severity

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

NCBI chr 9:34,804,285...34,984,640
Ensembl chr 9:34,806,535...34,983,788

G

C-C motif chemokine ligand 22

severity

NCBI chr 2:59,039,650...59,045,519
Ensembl chr 2:59,040,539...59,045,625

G

C-C motif chemokine receptor 4

severity

NCBI chr23:3,844,072...3,847,770
Ensembl chr23:3,844,173...3,845,255

G

CD82 molecule

protein:decreased expression:uterine cervix

NCBI chr18:44,658,414...44,707,897
Ensembl chr18:44,659,180...44,706,768

G

colony stimulating factor 1 receptor

protein:increased expression:uterine cervix

NCBI chr 4:58,980,699...59,010,683
Ensembl chr 4:58,980,788...59,010,510

G

fibroblast growth factor 7

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

NCBI chr30:15,555,016...15,608,230
Ensembl chr30:15,555,266...15,606,521

G

fibroblast growth factor receptor 3

no_association

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

NCBI chr 3:62,309,128...62,318,932
Ensembl chr 3:62,303,756...62,323,896

G

Fos proto-oncogene, AP-1 transcription factor subunit

disease_progression

protein:increased expression:uterine cervix

NCBI chr 8:48,330,856...48,334,273
Ensembl chr 8:48,331,026...48,333,467

G

FOS like 1, AP-1 transcription factor subunit

protein:decreased expression:uterine cervix

NCBI chr18:51,366,719...51,374,411
Ensembl chr18:51,368,352...51,373,748

G

forkhead box P3

severity

NCBI chr X:42,331,229...42,362,841
Ensembl chr X:42,344,108...42,350,758

G

microRNA mir-21

RNA:increased expression:cervical cell

NCBI chr 9:34,340,550...34,340,609
Ensembl chr 9:34,340,533...34,340,624

G

microRNA mir-31

RNA:increased expression:blood serum (human)

NCBI chr11:40,904,438...40,904,496
Ensembl chr11:40,904,437...40,904,503

G

podoplanin

disease_progression

NCBI chr 2:83,552,735...83,581,375
Ensembl chr 2:83,552,830...83,581,375

G

SMAD family member 3

severity

NCBI chr30:31,246,313...31,360,098
Ensembl chr30:31,245,657...31,363,337

G

TIMP metallopeptidase inhibitor 2

protein:decreased expression:uterine cervix

NCBI chr 9:2,521,882...2,533,883
Ensembl chr 9:2,521,882...2,533,989

G

transmembrane BAX inhibitor motif containing 6

disease_progression

mRNA:increased expression:uterine cervix

NCBI chr27:4,921,606...4,944,830
Ensembl chr27:4,921,606...4,944,783

G

TNF receptor superfamily member 4

severity

NCBI chr 5:56,401,410...56,404,410
Ensembl chr 5:56,401,384...56,404,761

G

TNF superfamily member 4

severity

NCBI chr 7:25,883,297...25,909,608
Ensembl chr 7:25,883,251...25,906,892

G

tumor protein p53

disease_progression

NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109

choroid plexus papilloma

term browser

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PubMed Reference(s)

RGD Reference(s)

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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 chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109

epidermodysplasia verruciformis

term browser

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Evidence

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PubMed Reference(s)

RGD Reference(s)

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G

transmembrane channel like 6

ClinVar Annotator: match by term: Epidermodysplasia verruciformis

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

NCBI chr 9:3,002,689...3,018,059
Ensembl chr 9:2,805,651...3,016,309

G

transmembrane channel like 8

ClinVar Annotator: match by term: Epidermodysplasia verruciformis

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

NCBI chr 9:2,989,095...2,999,702
Ensembl chr 9:2,990,419...2,999,778

G

trinucleotide repeat containing adaptor 6C

ClinVar Annotator: match by term: Epidermodysplasia verruciformis

NCBI chr 9:3,018,599...3,122,664
Ensembl chr 9:3,020,533...3,171,471

Epidermodysplasia Verruciformis 1

term browser

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Object Name

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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 chr 9:3,002,689...3,018,059
Ensembl chr 9:2,805,651...3,016,309

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 chr 9:2,989,095...2,999,702
Ensembl chr 9:2,990,419...2,999,778

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 chr 9:3,002,689...3,018,059
Ensembl chr 9:2,805,651...3,016,309

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 chr 9:2,989,095...2,999,702
Ensembl chr 9:2,990,419...2,999,778

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 chr 3:53,184,713...53,209,195
Ensembl chr 3:53,184,714...53,188,224

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 chr 9:21,863,715...21,868,587
Ensembl chr 9:21,863,767...21,868,587

esophagus squamous cell carcinoma

term browser

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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 chr28:12,670,885...12,740,124
Ensembl chr28:12,670,885...12,740,740

G

adenylate cyclase activating polypeptide 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:67,682,421...67,691,035

G

ajuba LIM protein

CTD Direct Evidence: marker/mechanism

NCBI chr 8:3,272,408...3,302,179
Ensembl chr 8:3,272,405...3,301,708

G

AKT serine/threonine kinase 1

disease_progression

protein:increased expression:esophagus (human)

NCBI chr 8:72,317,399...72,335,686
Ensembl chr 8:72,317,869...72,335,193

G

aldehyde dehydrogenase 2 family member

CTD Direct Evidence: marker/mechanism

PMID:16639733 PMID:22960999

NCBI chr26:9,319,109...9,361,021

G

annexin A1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:84,744,159...84,763,011
Ensembl chr 1:84,744,163...84,763,011

G

ATM serine/threonine kinase

disease_progression

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

NCBI chr 5:24,180,129...24,297,207
Ensembl chr 5:24,182,135...24,297,207

G

ATPase Na+/K+ transporting subunit beta 2

CTD Direct Evidence: marker/mechanism

NCBI chr 5:32,548,591...32,553,911
Ensembl chr 5:32,549,167...32,553,504

G

axin 1

disease_progression

protein:decreased expression:esophagus (human)

NCBI chr 6:40,155,797...40,218,330
Ensembl chr 6:40,158,244...40,218,343

G

alpha-2-glycoprotein 1, zinc-binding

disease_progression

NCBI chr 6:9,622,991...9,629,154
Ensembl chr 6:9,622,992...9,629,154

G

antizyme inhibitor 1

NCBI chr13:4,363,996...4,396,069
Ensembl chr13:4,361,340...4,396,040

G

beta-2-microglobulin

CTD Direct Evidence: marker/mechanism

NCBI chr30:11,331,574...11,337,991
Ensembl chr30:11,331,569...11,337,997

G

biliverdin reductase B

CTD Direct Evidence: marker/mechanism

NCBI chr 1:113,244,484...113,258,170
Ensembl chr 1:113,244,503...113,258,073

G

BMI1 proto-oncogene, polycomb ring finger

NCBI chr 2:10,818,232...10,828,473
Ensembl chr 2:10,818,232...10,833,613

G

bone morphogenetic protein 6

protein:increased expression:esophagus

NCBI chr35:7,780,763...7,833,095
Ensembl chr35:7,804,231...7,831,845

G

BRCA1 DNA repair associated

DNA:SNP: :rs799917 (human)

NCBI chr 9:19,958,941...20,025,494
Ensembl chr 9:19,958,391...20,025,494

G

BRCA2 DNA repair associated

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

NCBI chr25:7,734,450...7,797,851
Ensembl chr25:7,734,453...7,797,815

G

bone marrow stromal cell antigen 2

disease_progression

NCBI chr20:45,383,757...45,387,420
Ensembl chr20:45,383,915...45,387,178

G

BUB1 mitotic checkpoint serine/threonine kinase B

CTD Direct Evidence: marker/mechanism

NCBI chr30:7,361,982...7,410,162
Ensembl chr30:7,322,912...7,438,052

G

carbonic anhydrase 1

CTD Direct Evidence: marker/mechanism

NCBI chr29:31,858,644...31,868,135
Ensembl chr29:31,858,636...31,868,158

G

carbonic anhydrase 12

severity

NCBI chr30:27,903,460...27,957,162
Ensembl chr30:27,905,837...27,957,742

G

carbonic anhydrase 2

CTD Direct Evidence: marker/mechanism

NCBI chr29:31,959,225...31,975,309
Ensembl chr29:31,935,172...31,980,579

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 chr20:49,251,390...49,255,291
Ensembl chr20:49,251,777...49,255,245

G

capping actin protein of muscle Z-line subunit alpha 1

CTD Direct Evidence: marker/mechanism

NCBI chr17:62,900,062...62,948,164
Ensembl chr17:62,901,422...62,948,084

G

caspase 8

exacerbates

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

NCBI chr37:10,362,071...10,402,108
Ensembl chr37:10,391,048...10,401,822

G

chromobox 8

severity

mRNA:increased expression:esophagus:

NCBI chr 9:1,839,701...1,842,355
Ensembl chr 9:1,839,096...1,843,099

G

coiled-coil alpha-helical rod protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr12:842,093...855,014
Ensembl chr12:837,993...854,978

G

cyclin D1

CTD Direct Evidence: marker/mechanism

NCBI chr18:48,501,905...48,509,684
Ensembl chr18:48,501,899...48,516,005

G

cyclin dependent kinase inhibitor 1A

CTD Direct Evidence: therapeutic

NCBI chr12:5,746,898...5,755,103
Ensembl chr12:5,745,852...5,892,281

G

cyclin dependent kinase inhibitor 2A

CTD Direct Evidence: marker/mechanism

NCBI chr11:41,223,316...41,226,056
Ensembl chr11:41,223,315...41,264,379

G

cyclin dependent kinase inhibitor 2B

DNA:SNPs: :rs615552, rs573687 (human)

NCBI chr11:41,259,627...41,264,832

G

cofilin 1

CTD Direct Evidence: marker/mechanism

NCBI chr18:51,404,649...51,408,240
Ensembl chr18:51,401,659...51,408,212

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 chr13:38,343,966...38,355,534
Ensembl chr13:38,346,104...38,355,468

G

cholinergic receptor nicotinic alpha 7 subunit

disease_progression
exacerbates

mRNA:increased expression:esophagus (human)

PMID:27610024 PMID:33603170

RGD:151361143 RGD:151667905

NCBI chr 3:36,852,082...37,164,930
Ensembl chr 3:36,852,543...36,978,399

G

cholinergic receptor nicotinic beta 4 subunit

mRNA:increased expression:esophagus (human)

NCBI chr13:38,312,537...38,327,242
Ensembl chr13:38,312,173...38,328,341

G

chloride intracellular channel 1

CTD Direct Evidence: marker/mechanism

NCBI chr12:1,209,777...1,215,229
Ensembl chr12:1,209,780...1,215,229

G

CLPTM1 like

susceptibility
no_association

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

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

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

NCBI chr34:11,263,274...11,277,666
Ensembl chr34:11,263,162...11,277,436

G

collagen type XIV alpha 1 chain

disease_progression

DNA:hypermethylation

NCBI chr13:19,033,423...19,249,189
Ensembl chr13:19,011,897...19,248,568

G

cellular retinoic acid binding protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:58,446,222...58,449,789

G

CREB binding protein

CTD Direct Evidence: marker/mechanism

NCBI chr 6:37,410,201...37,536,688
Ensembl chr 6:37,409,930...37,534,176

G

colony stimulating factor 1 receptor

mRNA:decreased expression:esophagus squamous epithelium (human)

NCBI chr 4:58,980,699...59,010,683
Ensembl chr 4:58,980,788...59,010,510

G

cystatin B

CTD Direct Evidence: marker/mechanism

G

C-X-C motif chemokine ligand 8

severity

mRNA:increased expression:esophagus (human)

NCBI chr13:62,435,035...62,438,354
Ensembl chr13:62,434,422...62,438,354

G

C-X-C motif chemokine receptor 4

disease_progression

protein:increased expression:esophagus squamous epithelium (human)

NCBI chr19:38,874,650...38,877,740
Ensembl chr19:38,874,145...38,877,740

G

cytochrome P450 family 1 subfamily A member 1

NCBI chr30:37,793,277...37,799,535
Ensembl chr30:37,793,508...37,796,866

G

cytochrome P450 family 1 subfamily B member 1

protein:increased expression:esophagus (rat)

NCBI chr17:30,273,281...30,278,554
Ensembl chr17:30,272,749...30,278,554

G

cytochrome P450 family 24 subfamily A member 1

susceptibility

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

NCBI chr24:39,861,018...39,878,161
Ensembl chr24:39,862,355...39,878,216

G

cytochrome P450 family 26 subfamily B member 1

CTD Direct Evidence: marker/mechanism

NCBI chr17:50,633,397...50,653,882
Ensembl chr17:50,633,413...50,653,894

G

cytochrome P450, family 2, subfamily A, polypeptide 7

CTD Direct Evidence: marker/mechanism

NCBI chr 1:112,900,508...112,906,745
Ensembl chr 1:112,900,403...112,907,076

G

DAB2 interacting protein

severity

protein:decreased expression:esophagus (human)

NCBI chr 9:60,725,887...60,918,242
Ensembl chr 9:60,726,809...60,918,139

G

DCC netrin 1 receptor

NCBI chr 1:21,788,833...22,494,849
Ensembl chr 1:21,793,328...22,494,967

G

death inducer-obliterator 1

CTD Direct Evidence: marker/mechanism

NCBI chr24:46,691,117...46,735,117
Ensembl chr24:46,692,605...46,724,505

G

DNA methyltransferase 3 beta

disease_progression

protein:increased expression:nucleus:

NCBI chr24:22,096,386...22,123,378
Ensembl chr24:22,096,349...22,122,900

G

dipeptidyl peptidase 4

protein:increased expression: esophagus

NCBI chr36:7,398,713...7,472,554
Ensembl chr36:7,399,643...7,454,204

G

ephrin B2

exacerbates
ameliorates
severity

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

PMID:17611172 PMID:29190834 PMID:31885720

RGD:153300947 RGD:153300948 RGD:153300949

NCBI chr22:55,567,992...55,609,210
Ensembl chr22:55,566,039...55,609,443

G

epidermal growth factor receptor

severity

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

PMID:10385363 PMID:21947696

NCBI chr18:5,983,669...6,044,092
Ensembl chr18:5,982,770...6,042,631

G

euchromatic histone lysine methyltransferase 1

disease_progression

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

PMID:24649311 PMID:24805087

RGD:9589143 RGD:9590071

NCBI chr 9:48,031,593...48,110,954
Ensembl chr 9:48,032,709...48,175,828

G

euchromatic histone lysine methyltransferase 2

disease_progression

protein:increased expression:esophagus mucosa:

NCBI chr12:1,341,202...1,354,602
Ensembl chr12:1,341,191...1,354,584

G

E1A binding protein p300

CTD Direct Evidence: marker/mechanism

PMID:17965222 PMID:25151357

NCBI chr10:24,076,538...24,156,708
Ensembl chr10:24,077,971...24,156,396

G

erythrocyte membrane protein band 4.1 like 3

disease_progression

DNA:hypermethylation

NCBI chr 7:71,734,325...72,001,496
Ensembl chr 7:71,747,333...71,868,751

G

EPH receptor B4

exacerbates

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

NCBI chr 6:8,925,303...8,943,284
Ensembl chr 6:8,924,686...8,942,324

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 chr37:19,029,647...20,134,576
Ensembl chr37:19,037,217...20,134,426

G

ERCC excision repair 1, endonuclease non-catalytic subunit

treatment

NCBI chr 1:110,130,353...110,146,660
Ensembl chr 1:110,130,481...110,146,602

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

disease_progression

PMID:21165554 PMID:25613619

RGD:126781697 RGD:126781701

NCBI chr16:1,926,443...1,991,995
Ensembl chr16:1,925,956...1,991,838

G

FA complementation group A

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

NCBI chr 5:63,778,149...63,838,869
Ensembl chr 5:63,778,212...63,838,823

G

fibroblast activation protein alpha

protein:increased expression: esophagus

NCBI chr36:7,574,364...7,647,448
Ensembl chr36:7,575,161...7,647,226

G

fatty acid synthase

CTD Direct Evidence: marker/mechanism

NCBI chr 9:233,105...249,573
Ensembl chr 9:232,963...249,092

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 chr16:44,113,621...44,241,187
Ensembl chr16:44,128,386...44,241,192

G

FAT atypical cadherin 2

CTD Direct Evidence: marker/mechanism

NCBI chr 4:57,743,007...57,823,740
Ensembl chr 4:57,742,651...57,823,740

G

FAT atypical cadherin 3

CTD Direct Evidence: marker/mechanism

NCBI chr21:7,711,304...8,355,609
Ensembl chr21:7,711,995...8,213,266

G

FAT atypical cadherin 4

CTD Direct Evidence: marker/mechanism

NCBI chr19:15,157,595...15,332,821
Ensembl chr19:15,158,922...15,332,045

G

F-box and WD repeat domain containing 7

CTD Direct Evidence: marker/mechanism

NCBI chr15:50,187,579...50,417,188
Ensembl chr15:50,189,240...50,417,195

G

FES proto-oncogene, tyrosine kinase

exacerbates

DNA:hypermethylation: (human)

NCBI chr 3:53,346,975...53,356,547
Ensembl chr 3:53,347,012...53,356,516

G

fibroblast growth factor receptor 4

treatment

NCBI chr 4:36,243,689...36,254,636
Ensembl chr 4:36,244,220...36,252,035

G

FKBP prolyl isomerase 1A

CTD Direct Evidence: marker/mechanism

NCBI chr24:19,618,581...19,643,685
Ensembl chr24:19,618,558...19,643,046

G

forkhead box A1

onset

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

PMID:27050876 PMID:29788741

RGD:151665743 RGD:151665759

NCBI chr 8:16,072,629...16,083,105
Ensembl chr 8:16,079,140...16,083,807

G

far upstream element binding protein 1

exacerbates

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

PMID:26490982 PMID:32481602

RGD:151361192 RGD:151361197

NCBI chr 6:68,923,215...68,963,766

G

GDP dissociation inhibitor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 2:30,150,769...30,168,957
Ensembl chr 2:30,150,769...30,169,110

G

glyoxalase I

CTD Direct Evidence: marker/mechanism

NCBI chr12:7,584,141...7,609,615
Ensembl chr12:7,585,531...7,609,550

G

glutathione peroxidase 3

disease_progression

DNA:hypermethylation

PMID:25050929 PMID:30018730

RGD:151665494 RGD:151665741

NCBI chr 4:58,200,671...58,209,010
Ensembl chr 4:58,200,672...58,209,010

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 chr 9:22,743,370...22,751,936
Ensembl chr 9:22,743,402...22,750,896

G

glutathione S-transferase omega 1

CTD Direct Evidence: marker/mechanism

NCBI chr28:16,569,421...16,579,239
Ensembl chr28:16,569,066...16,619,880

G

glutathione S-transferase pi 1

DNA:polymorphism: :p.I105V (human)

NCBI chr18:49,905,161...49,908,182
Ensembl chr18:49,905,161...49,908,182

G

H2B clustered histone 27

CTD Direct Evidence: marker/mechanism

NCBI chr14:596,292...599,815
Ensembl chr14:599,408...599,788

G

hypoxia inducible factor 1 subunit alpha

CTD Direct Evidence: marker/mechanism

NCBI chr 8:36,614,045...36,656,692
Ensembl chr 8:36,614,045...36,656,692

G

high mobility group box 1

CTD Direct Evidence: marker/mechanism

NCBI chr25:9,431,223...9,558,167
Ensembl chr25:9,431,218...9,558,165

G

homeobox B7

severity

protein:increased expression:esophageal mucosa (human)

NCBI chr 9:24,870,037...24,874,517
Ensembl chr 9:24,870,612...24,873,453

G

heat shock protein family A (Hsp70) member 5

CTD Direct Evidence: marker/mechanism

NCBI chr 9:57,850,870...57,855,607
Ensembl chr 9:57,850,922...57,855,257

G

HtrA serine peptidase 1

ameliorates
exacerbates

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

NCBI chr28:32,133,779...32,157,835
Ensembl chr28:32,132,547...32,157,409

G

isocitrate dehydrogenase (NADP(+)) 2

severity

human cells in mouse model

NCBI chr 3:53,070,462...53,077,566
Ensembl chr 3:53,070,695...53,087,496

G

Janus kinase 2

severity

protein:increased phosphorylation:esophagus squamous epithelium (human)

NCBI chr 1:93,321,055...93,438,898
Ensembl chr 1:93,142,635...93,435,997

G

JunB proto-oncogene, AP-1 transcription factor subunit

exacerbates

protein:increased expression:esophagus (human)

PMID:19758438 PMID:30227324

RGD:151347669 RGD:151347672

NCBI chr20:49,358,904...49,360,746
Ensembl chr20:49,359,399...49,360,442

G

lysine acetyltransferase 2B

mRNA:decreased expression:esophagus (human)

NCBI chr23:23,166,722...23,242,447
Ensembl chr23:23,168,600...23,233,478

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 chr11:27,662,764...28,101,432
Ensembl chr11:27,693,536...28,101,801

G

lysine demethylase 5B

severity

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

NCBI chr 7:336,452...415,568
Ensembl chr 7:330,705...412,386

G

lysine demethylase 6A

ameliorates

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

PMID:25151357 PMID:29351209 PMID:31804468

RGD:150429739 RGD:150429742 RGD:9588233

NCBI chr X:38,745,854...38,964,029
Ensembl chr X:38,745,854...38,959,842

G

lysine methyltransferase 2C

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

NCBI chr16:15,962,045...16,117,601
Ensembl chr16:15,963,901...16,158,408

G

lysine methyltransferase 2D

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

PMID:25151357 PMID:29532228

RGD:150521712 RGD:9588233

NCBI chr27:5,516,866...5,556,303
Ensembl chr27:5,521,804...5,553,490

G

keratin 13

CTD Direct Evidence: marker/mechanism

NCBI chr 9:21,261,233...21,265,564
Ensembl chr 9:21,156,045...21,265,564

G

keratin 14

CTD Direct Evidence: marker/mechanism

NCBI chr 9:21,190,672...21,195,060
Ensembl chr 9:21,156,045...21,265,564

G

keratin 17

CTD Direct Evidence: marker/mechanism

NCBI chr 9:21,155,007...21,161,407
Ensembl chr 9:21,156,045...21,265,564

G

keratin 19

CTD Direct Evidence: marker/mechanism

NCBI chr 9:21,240,778...21,245,039

G

keratin 7

disease_progression

NCBI chr27:2,812,709...2,827,451

G

metallothionein-1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:59,603,021...59,604,173
Ensembl chr 2:59,603,014...59,604,132

G

mitotic arrest deficient 2 like 1

CTD Direct Evidence: marker/mechanism

NCBI chr18:55,653,677...55,661,017

G

lysyl oxidase like 2

CTD Direct Evidence: marker/mechanism

NCBI chr25:34,095,858...34,186,775
Ensembl chr25:34,126,335...34,185,969

G

lymphotoxin alpha

CTD Direct Evidence: marker/mechanism

NCBI chr12:1,070,608...1,073,053
Ensembl chr12:1,071,192...1,073,067

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 chr25:36,764,235...36,814,204
Ensembl chr25:36,744,061...36,811,972

G

mitogen-activated protein kinase kinase kinase 1

sexual_dimorphism

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

NCBI chr 2:43,918,210...43,996,817
Ensembl chr 2:43,917,604...43,995,209

G

methyl-CpG binding domain 4, DNA glycosylase

susceptibility

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

PMID:15205355 PMID:25162968

RGD:9588976 RGD:9588980

NCBI chr20:5,716,162...5,725,068
Ensembl chr20:5,716,239...5,724,881

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 chr28:38,204,611...38,427,482
Ensembl chr28:38,204,610...38,427,380

G

microRNA mir-10a

miRNA:increased expression:esophagus squamous epithelium (human)

NCBI chr 9:24,842,171...24,842,233
Ensembl chr 9:24,842,145...24,842,248

G

microRNA mir-127

RNA:decreased expression:esophagus (human)

NCBI chr 8:69,104,938...69,104,997
Ensembl chr 8:69,104,906...69,105,016

G

microRNA mir-193a

exacerbates

miRNA:decreased expression:esophagus (human)

NCBI chr 9:41,316,481...41,316,536
Ensembl chr 9:41,316,474...41,316,542

G

microRNA mir-217

CTD Direct Evidence: marker/mechanism

NCBI chr10:56,754,566...56,754,647
Ensembl chr10:56,754,566...56,754,647

G

microRNA mir-31

ameliorates

PMID:21658006 PMID:32123074

RGD:127285381 RGD:152998938

NCBI chr11:40,904,438...40,904,496
Ensembl chr11:40,904,437...40,904,503

G

microRNA mir-423a

CTD Direct Evidence: marker/mechanism

NCBI chr 9:44,155,913...44,155,971

G

microRNA mir-432

mRNA:increased expression:esophagus (human)

NCBI chr 8:69,106,415...69,106,501
Ensembl chr 8:69,106,415...69,106,501

G

microRNA mir-494

mRNA:decreased expression:esophagus

NCBI chr 8:69,261,385...69,261,465
Ensembl chr 8:69,261,385...69,261,465

G

mutL homolog 1

disease_progression

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

NCBI chr23:6,889,108...6,938,117
Ensembl chr23:6,889,135...6,938,116

G

matrix metallopeptidase 14

protein:increased expression: esophagus

NCBI chr 8:3,183,419...3,193,079
Ensembl chr 8:3,183,606...3,194,122

G

matrix metallopeptidase 2

protein:increased activity: esophagus

NCBI chr 2:60,471,092...60,492,991
Ensembl chr 2:60,471,257...60,494,113

G

matrix metallopeptidase 9

protein:increased activity: esophagus

NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293

G

mutS homolog 2

disease_progression

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

PMID:21674174 PMID:22265839 PMID:24366688

RGD:126790560 RGD:126790573 RGD:126790574

NCBI chr10:49,517,448...49,594,001
Ensembl chr10:49,517,369...49,594,210

G

NFE2 like bZIP transcription factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr36:20,989,205...21,087,044
Ensembl chr36:20,989,360...21,012,524

G

notch receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:48,975,972...49,018,985
Ensembl chr 9:48,974,757...49,017,277

G

notch receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr17:56,854,825...57,020,157
Ensembl chr17:56,860,429...57,020,857

G

notch receptor 3

CTD Direct Evidence: marker/mechanism

NCBI chr20:46,946,654...46,978,821
Ensembl chr20:46,937,485...46,978,219

G

8-oxoguanine DNA glycosylase

CTD Direct Evidence: marker/mechanism

NCBI chr20:8,486,150...8,491,448
Ensembl chr20:8,480,005...8,491,264

G

PAXIP1 associated glutamate rich protein 1

mRNA, protein:decreased expression:esophagus (human)

NCBI chr 6:17,876,740...17,879,546

G

PBX homeobox 3

RNA:increased expression:esophagus squamous epithelium (human)

NCBI chr 9:57,198,531...57,429,820
Ensembl chr 9:57,199,812...57,429,811

G

profilin 1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:31,670,483...31,671,891
Ensembl chr 5:31,670,194...31,671,895

G

phospholipase C epsilon 1

CTD Direct Evidence: marker/mechanism

PMID:20729852 PMID:20729853

NCBI chr28:8,209,707...8,484,427
Ensembl chr28:8,210,058...8,481,770

G

peroxiredoxin 1

CTD Direct Evidence: marker/mechanism

NCBI chr15:14,834,009...14,855,665
Ensembl chr15:14,838,652...14,862,971

G

proteasome 20S subunit beta 9

disease_progression

NCBI chr12:2,432,287...2,438,920
Ensembl chr12:2,432,505...2,438,069

G

proteasome activator subunit 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:4,131,197...4,134,001
Ensembl chr 8:4,131,345...4,134,006

G

proteasome activator subunit 2

CTD Direct Evidence: marker/mechanism

NCBI chr 8:4,137,247...4,141,380
Ensembl chr 8:4,137,247...4,140,706

G

patched 1

disease_progression

NCBI chr 1:71,246,750...71,309,036
Ensembl chr 1:71,238,195...71,305,662

G

prostaglandin-endoperoxide synthase 2

CTD Direct Evidence: marker/mechanism

PMID:15756444 PMID:16543248 PMID:18197933

NCBI chr 7:19,668,079...19,674,903
Ensembl chr 7:19,668,082...19,674,903

G

protein tyrosine phosphatase receptor type T

susceptibility

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

NCBI chr24:29,992,957...30,764,469
Ensembl chr24:30,000,637...30,820,835

G

RB transcriptional corepressor 1

CTD Direct Evidence: marker/mechanism

NCBI chr22:3,061,621...3,204,625
Ensembl chr22:3,063,239...3,257,726

G

RPTOR independent companion of MTOR complex 2

disease_progression
severity

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

PMID:28132115 PMID:30119206 PMID:32642408

RGD:152995460 RGD:152995470 RGD:152995512

NCBI chr 4:69,903,393...70,013,168
Ensembl chr 4:69,936,379...70,010,566

G

ring finger protein 6

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

NCBI chr25:13,199,201...13,240,347
Ensembl chr25:13,199,397...13,207,497

G

RUNX family transcription factor 1

DNA:SNP: :rs2014300 (human)

NCBI chr31:30,170,859...30,420,344
Ensembl chr31:30,170,605...30,420,839

G

RUNX family transcription factor 2

mRNA:increased expression:esophagus mucosa

NCBI chr12:13,723,535...13,842,565
Ensembl chr12:13,628,539...13,840,785
Ensembl chr12:13,628,539...13,840,785

G

RUNX family transcription factor 3

disease_progression

mRNA:decreased expression:esophagus mucosa

G

spalt like transcription factor 4

CTD Direct Evidence: marker/mechanism

NCBI chr24:37,941,498...37,959,713
Ensembl chr24:37,940,034...38,037,287

G

SET domain containing 5

disease_progression

NCBI chr20:8,681,714...8,766,013
Ensembl chr20:8,683,738...8,732,674

G

stratifin

CTD Direct Evidence: marker/mechanism

NCBI chr 2:73,268,289...73,269,663
Ensembl chr 2:73,268,791...73,269,537

G

solute carrier family 16 member 10

protein:increased expression:esophagus

NCBI chr12:67,612,563...67,720,763
Ensembl chr12:67,705,037...67,719,985

G

solute carrier family 1 member 5

disease_progression

protein:increased expression:esophagus

PMID:26936531 PMID:33609949

RGD:11532833 RGD:151361149

NCBI chr 1:109,150,205...109,161,375
Ensembl chr 1:109,150,205...109,161,141

G

solute carrier family 39 member 6

CTD Direct Evidence: therapeutic

NCBI chr 7:54,059,193...54,080,582
Ensembl chr 7:54,059,193...54,080,582

G

solute carrier family 52 member 3

CTD Direct Evidence: marker/mechanism

NCBI chr24:20,127,527...20,141,070
Ensembl chr24:20,127,520...20,156,003

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 chr 5:65,313,105...65,343,858
Ensembl chr 5:65,313,105...65,343,858

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 chr 6:31,511,003...31,511,995
Ensembl chr 6:31,509,268...31,511,557

G

superoxide dismutase 2

CTD Direct Evidence: marker/mechanism

PMID:18167182 PMID:21517111

NCBI chr 1:48,943,472...48,955,158
Ensembl chr 1:48,836,262...48,955,706

G

SRY-box transcription factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr34:14,853,000...14,855,153

G

spen family transcriptional repressor

associated with Neoplasm Metastasis; DNA:mutations

NCBI chr 2:81,683,824...81,775,904

G

stromal interaction molecule 1

exacerbates

protein:increased expression:esophagus (human)

NCBI chr21:26,394,592...26,594,764
Ensembl chr21:26,394,811...26,593,375

G

stimulator of interferon response cGAMP interactor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:34,783,947...34,792,204
Ensembl chr 2:34,784,232...34,789,072

G

sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1

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

NCBI chr 6:18,176,156...18,179,492
Ensembl chr 6:18,176,355...18,179,489

G

transgelin

CTD Direct Evidence: marker/mechanism

NCBI chr 5:16,390,259...16,395,471
Ensembl chr 5:16,390,573...16,397,207

G

transporter 1, ATP binding cassette subfamily B member

protein:decreased expression:esophagus

NCBI chr12:2,424,049...2,432,165
Ensembl chr12:2,378,126...2,432,303

G

transporter 2, ATP binding cassette subfamily B member

protein:decreased expression:esophagus

NCBI chr12:2,407,512...2,417,469
Ensembl chr12:2,378,126...2,432,303

G

transcobalamin 2

CTD Direct Evidence: marker/mechanism

NCBI chr26:23,693,664...23,710,342
Ensembl chr26:23,693,773...23,709,832

G

telomerase reverse transcriptase

no_association
susceptibility

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

PMID:15112252 PMID:25007268 PMID:26716642

RGD:11572962 RGD:150530488 RGD:152977757

NCBI chr34:11,288,622...11,307,790
Ensembl chr34:11,288,622...11,307,951

G

tet methylcytosine dioxygenase 2

severity

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

PMID:26093090 PMID:26873401 PMID:27050164

RGD:11528815 RGD:150429656 RGD:150429668

NCBI chr32:26,021,745...26,145,109
Ensembl chr32:26,059,693...26,143,536

G

tet methylcytosine dioxygenase 3

mRNA:decreased expression:esophagus squamous epithelium (human)

NCBI chr17:48,976,510...49,083,454
Ensembl chr17:48,981,558...49,082,675

G

transforming growth factor beta receptor 2

NCBI chr23:13,886,869...13,946,480
Ensembl chr23:13,889,000...13,977,636

G

TNF alpha induced protein 3

severity

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

NCBI chr 1:30,247,432...30,262,992
Ensembl chr 1:30,251,059...30,261,001

G

TNF alpha induced protein 8

CTD Direct Evidence: marker/mechanism

NCBI chr11:8,624,106...8,685,389
Ensembl chr11:8,660,557...8,684,374

G

tenascin XB

CTD Direct Evidence: marker/mechanism

NCBI chr12:1,453,227...1,510,171
Ensembl chr12:1,453,260...1,509,749

G

tumor protein p53

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

PMID:16543248 PMID:25151357 PMID:28789369

NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109

G

triosephosphate isomerase 1

CTD Direct Evidence: marker/mechanism

NCBI chr27:38,154,519...38,157,900
Ensembl chr27:38,154,519...38,158,137

G

tropomyosin 1

CTD Direct Evidence: marker/mechanism

NCBI chr30:27,636,407...27,664,907
Ensembl chr30:27,636,283...27,664,442

G

tropomyosin 2

CTD Direct Evidence: marker/mechanism

NCBI chr11:52,212,372...52,219,947
Ensembl chr11:52,212,401...52,219,923

G

thioredoxin domain containing 17

CTD Direct Evidence: marker/mechanism

NCBI chr 5:30,701,673...30,703,742
Ensembl chr 5:30,701,700...30,703,739

G

ubiquitin specific peptidase 8

CTD Direct Evidence: marker/mechanism

NCBI chr30:16,341,970...16,408,246
Ensembl chr30:16,342,009...16,408,012

G

VENT homeobox

CTD Direct Evidence: marker/mechanism

NCBI chr28:40,836,688...40,840,145
Ensembl chr28:40,836,403...40,840,127

G

WD repeat containing antisense to TP53

disease_progression

NCBI chr 5:32,574,153...32,586,222
Ensembl chr 5:32,574,134...32,594,333

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 chr 5:72,298,254...73,243,667
Ensembl chr 5:72,299,157...73,261,406

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 chr10:61,541,647...61,588,397
Ensembl chr10:61,542,211...61,585,054

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 chr 1:111,548,719...111,571,816
Ensembl chr 1:111,548,719...111,571,816

G

zinc finger CCHC-type containing 12

CTD Direct Evidence: marker/mechanism

NCBI chr X:91,004,777...91,008,019

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 chr11:56,191,383...56,223,042
Ensembl chr11:56,161,772...56,218,594

focal nonepidermolytic palmoplantar keratoderma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

spermatogenesis associated 22

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

NCBI chr 9:47,322,817...47,338,202
Ensembl chr 9:47,322,820...47,338,108

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 chr 9:47,365,275...47,398,198
Ensembl chr 9:47,368,544...47,401,362

focal nonepidermolytic palmoplantar keratoderma 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

keratin 16

Palmoplantar keratoderma, nonepidermolytic, focal 1

NCBI chr 9:21,167,714...21,170,650

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 chr 9:47,365,275...47,398,198
Ensembl chr 9:47,368,544...47,401,362

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 chr 5:32,574,153...32,586,222
Ensembl chr 5:32,574,134...32,594,333

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 chr14:13,644,891...13,852,829
Ensembl chr14:13,542,647...13,742,727

G

ATP binding cassette subfamily C member 1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:27,855,702...27,950,140
Ensembl chr 6:27,855,702...27,989,331

G

ATP binding cassette subfamily C member 2

CTD Direct Evidence: marker/mechanism

NCBI chr28:12,670,885...12,740,124
Ensembl chr28:12,670,885...12,740,740

G

ATP binding cassette subfamily G member 2

CTD Direct Evidence: marker/mechanism

NCBI chr32:11,443,778...11,517,674
Ensembl chr32:11,443,780...11,517,674

G

ABL proto-oncogene 1, non-receptor tyrosine kinase

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

NCBI chr 9:53,118,462...53,262,092
Ensembl chr 9:53,119,641...53,261,307

G

aconitate decarboxylase 1

mRNA:increased expression:cranioceervical (human)

NCBI chr22:30,545,991...30,557,199
Ensembl chr22:30,547,271...30,555,510

G

AKT serine/threonine kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:72,317,399...72,335,686
Ensembl chr 8:72,317,869...72,335,193

G

ankyrin repeat domain 17

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

NCBI chr13:61,892,872...62,046,625
Ensembl chr13:61,893,951...62,012,404

G

ATPase copper transporting beta

CTD Direct Evidence: marker/mechanism

NCBI chr22:162,474...225,599
Ensembl chr22:191,888...225,266

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 chr30:11,331,574...11,337,991
Ensembl chr30:11,331,569...11,337,997

G

baculoviral IAP repeat containing 2

exacerbates

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

NCBI chr 5:29,294,080...29,314,837
Ensembl chr 5:29,294,692...29,312,771

G

baculoviral IAP repeat containing 3

ameliorates

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

NCBI chr 5:29,324,893...29,343,322
Ensembl chr 5:29,325,331...29,337,240

G

B-Raf proto-oncogene, serine/threonine kinase

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

NCBI chr16:8,222,909...8,318,179
Ensembl chr16:8,222,907...8,317,906

G

caspase 8

CTD Direct Evidence: marker/mechanism

NCBI chr37:10,362,071...10,402,108
Ensembl chr37:10,391,048...10,401,822

G

coiled-coil domain containing 3

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

NCBI chr 2:23,477,696...23,593,107
Ensembl chr 2:23,477,696...23,591,036

G

cyclin A1

CTD Direct Evidence: marker/mechanism

PMID:23358896 PMID:29464035

NCBI chr25:4,189,457...4,198,170
Ensembl chr25:4,189,457...4,198,373

G

cyclin A2

CTD Direct Evidence: marker/mechanism

NCBI chr19:18,317,866...18,324,592
Ensembl chr19:18,318,004...18,323,691

G

cyclin B1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:54,256,957...54,264,749

G

cyclin D1

disease_progression

CTD Direct Evidence: marker/mechanism

PMID:9796972 PMID:26909611 PMID:29464035

NCBI chr18:48,501,905...48,509,684
Ensembl chr18:48,501,899...48,516,005

G

cyclin E1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:121,688,622...121,697,533
Ensembl chr 1:121,688,796...121,697,649

G

cyclin E2

CTD Direct Evidence: marker/mechanism

NCBI chr29:39,534,872...39,551,141
Ensembl chr29:39,534,968...39,546,566

G

cell division cycle 73

exacerbates

protein:increased expression:squamous epithelium (human)

NCBI chr38:5,826,209...5,937,930
Ensembl chr38:5,805,916...5,938,111

G

cyclin dependent kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chr10:300,863...306,546
Ensembl chr10:300,903...305,438

G

cyclin dependent kinase 4

CTD Direct Evidence: marker/mechanism

NCBI chr10:1,812,864...1,815,815
Ensembl chr10:1,812,886...1,815,789

G

cyclin dependent kinase 6

CTD Direct Evidence: marker/mechanism

NCBI chr14:18,178,352...18,413,869
Ensembl chr14:18,188,429...18,419,869

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 chr11:41,223,316...41,226,056
Ensembl chr11:41,223,315...41,264,379

G

chromodomain helicase DNA binding protein 4

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

NCBI chr27:38,411,009...38,440,367
Ensembl chr27:38,411,075...38,439,958

G

claudin 1

CTD Direct Evidence: marker/mechanism

NCBI chr34:22,303,058...22,319,101
Ensembl chr34:22,303,850...22,319,033

G

contactin 4

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

NCBI chr20:14,354,148...15,277,202
Ensembl chr20:14,356,710...14,954,367

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 chr 6:37,410,201...37,536,688
Ensembl chr 6:37,409,930...37,534,176

G

catenin beta 1

CTD Direct Evidence: marker/mechanism

NCBI chr23:10,559,722...10,572,933
Ensembl chr23:10,559,718...10,572,927

G

cytochrome P450 2C41

treatment

DNA:polymorphisms: :CYP2C9*2(human)

G

cytochrome P450 family 2 subfamily D member 15

treatment

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

NCBI chr10:23,255,259...23,259,380
Ensembl chr10:23,255,249...23,259,298

G

discoidin domain receptor tyrosine kinase 2

severity

NCBI chr38:20,002,984...20,152,930
Ensembl chr38:20,008,057...20,152,275

G

DNA methyltransferase 3 beta

susceptibility

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

NCBI chr24:22,096,386...22,123,378
Ensembl chr24:22,096,349...22,122,900

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 chr18:5,983,669...6,044,092
Ensembl chr18:5,982,770...6,042,631

G

erb-b2 receptor tyrosine kinase 2

disease_progression

NCBI chr 9:22,760,373...22,785,367
Ensembl chr 9:22,759,256...22,785,294

G

erb-b2 receptor tyrosine kinase 4

severity

NCBI chr37:19,029,647...20,134,576
Ensembl chr37:19,037,217...20,134,426

G

FA complementation group B

DNA:hypermethylation:promoter

NCBI chr X:10,690,826...11,140,838
Ensembl chr X:11,095,200...11,141,029

G

FA complementation group D2

NCBI chr20:8,240,270...8,297,269
Ensembl chr20:8,240,311...8,297,568

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 3:62,309,128...62,318,932
Ensembl chr 3:62,303,756...62,323,896

G

fibroblast growth factor receptor 4

severity

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

NCBI chr 4:36,243,689...36,254,636
Ensembl chr 4:36,244,220...36,252,035

G

fragile histidine triad diadenosine triphosphatase

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

NCBI chr20:29,735,380...31,113,859
Ensembl chr20:30,356,572...31,113,859

G

glutamate ionotropic receptor kainate type subunit 2

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

NCBI chr12:58,932,754...59,991,305
Ensembl chr12:59,355,017...59,990,408

G

homeobox A5

CTD Direct Evidence: marker/mechanism

NCBI chr14:40,315,409...40,319,001
Ensembl chr14:40,315,639...40,317,768

G

homeobox D10

CTD Direct Evidence: marker/mechanism

NCBI chr36:19,924,352...19,927,706
Ensembl chr36:19,916,175...19,927,724

G

homeobox D11

CTD Direct Evidence: marker/mechanism

NCBI chr36:19,913,064...19,926,868
Ensembl chr36:19,914,431...19,916,766

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 chr18:25,642,844...25,644,717
Ensembl chr18:25,642,844...25,644,717

G

interferon lambda 3

CTD Direct Evidence: therapeutic

G

insulin like growth factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr15:41,203,320...41,275,964
Ensembl chr15:41,202,518...41,275,794

G

interleukin 1 alpha

CTD Direct Evidence: marker/mechanism

NCBI chr17:36,969,581...36,979,445
Ensembl chr17:36,970,573...36,979,435

G

interleukin 1 receptor accessory protein

CTD Direct Evidence: marker/mechanism

NCBI chr34:22,547,422...22,628,628
Ensembl chr34:22,546,899...22,623,544

G

interleukin 2

PMID:2787951 PMID:3263896

RGD:8662923 RGD:8662971

NCBI chr19:17,750,780...17,756,394
Ensembl chr19:17,750,780...17,756,394

G

inhibitor of growth family member 1

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

NCBI chr22:58,952,526...58,958,063
Ensembl chr22:58,946,939...58,957,804

G

insulin receptor substrate 1

CTD Direct Evidence: marker/mechanism

NCBI chr25:39,624,554...39,687,991

G

JunB proto-oncogene, AP-1 transcription factor subunit

ameliorates

human cell line in a mouse model

NCBI chr20:49,358,904...49,360,746
Ensembl chr20:49,359,399...49,360,442

G

KiSS-1 metastasis suppressor

CTD Direct Evidence: therapeutic

NCBI chr38:768,333...774,328
Ensembl chr38:768,585...773,382

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 chr13:47,108,442...47,190,935
Ensembl chr13:47,108,504...47,190,029

G

ligand of numb-protein X 1

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

NCBI chr13:46,083,826...46,258,698
Ensembl chr13:46,083,910...46,187,005

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 chr18:25,647,024...25,662,646
Ensembl chr18:25,647,882...25,664,220

G

O-6-methylguanine-DNA methyltransferase

CTD Direct Evidence: marker/mechanism

NCBI chr28:38,204,611...38,427,482
Ensembl chr28:38,204,610...38,427,380

G

microRNA mir-155

NCBI chr31:21,078,768...21,078,828
Ensembl chr31:21,078,758...21,078,833

G

microRNA mir-222

CTD Direct Evidence: marker/mechanism

NCBI chr X:39,524,519...39,524,608
Ensembl chr X:39,524,519...39,524,608

G

microRNA mir-494

exacerbates

NCBI chr 8:69,261,385...69,261,465
Ensembl chr 8:69,261,385...69,261,465

G

matrix metallopeptidase 2

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

NCBI chr 2:60,471,092...60,492,991
Ensembl chr 2:60,471,257...60,494,113

G

nicotinamide phosphoribosyltransferase

CTD Direct Evidence: marker/mechanism

NCBI chr18:14,110,045...14,211,268
Ensembl chr18:13,993,022...14,208,657

G

N-myc downstream regulated 1

CTD Direct Evidence: marker/mechanism

NCBI chr13:29,689,294...29,745,964
Ensembl chr13:29,650,444...29,746,382

G

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

CTD Direct Evidence: marker/mechanism

NCBI chr X:120,720,118...120,754,573
Ensembl chr X:120,720,183...120,754,143

G

8-oxoguanine DNA glycosylase

susceptibility

DNA:SNP: :rs1052133 (human)

PMID:21727658 PMID:22081374

RGD:8657144 RGD:8657147

NCBI chr20:8,486,150...8,491,448
Ensembl chr20:8,480,005...8,491,264

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 chr34:12,600,140...12,681,905
Ensembl chr34:12,600,233...12,675,910

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 chr 1:104,974,059...105,013,745
Ensembl chr 1:104,974,072...105,013,663

G

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

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

NCBI chr29:17,458,098...17,738,069
Ensembl chr29:17,458,281...17,735,170

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 chr26:37,853,148...37,913,176
Ensembl chr26:37,835,661...37,913,176

G

prostaglandin-endoperoxide synthase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 7:19,668,079...19,674,903
Ensembl chr 7:19,668,082...19,674,903

G

protein tyrosine phosphatase non-receptor type 13

susceptibility

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

PMID:19672627 PMID:19892796

RGD:152176661 RGD:152176665

NCBI chr32:10,125,447...10,328,764
Ensembl chr32:10,125,441...10,328,757

G

RAS guanyl releasing protein 3

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

NCBI chr17:26,560,832...26,657,276
Ensembl chr17:26,569,488...26,655,361

G

RB transcriptional corepressor 1

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

NCBI chr22:3,061,621...3,204,625
Ensembl chr22:3,063,239...3,257,726

G

sterile alpha motif domain containing 4A

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

NCBI chr 8:30,476,425...30,687,240
Ensembl chr 8:30,476,418...30,687,240

G

serpin family E member 1

severity

protein:increased expression:oral mucosa (human)

NCBI chr 6:8,719,547...8,727,160
Ensembl chr 6:8,720,825...8,726,301

G

SMAD family member 4

NCBI chr 1:23,875,989...23,930,027
Ensembl chr 1:23,882,139...23,969,405

G

syntrophin beta 1

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

NCBI chr13:19,394,608...19,627,278
Ensembl chr13:19,397,509...19,627,403

G

superoxide dismutase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:48,943,472...48,955,158
Ensembl chr 1:48,836,262...48,955,706

G

signal transducer and activator of transcription 3

treatment

CTD Direct Evidence: marker/mechanism

PMID:24395569 PMID:27064016

NCBI chr 9:20,539,660...20,614,631
Ensembl chr 9:20,539,697...20,612,672

G

serine/threonine kinase 11

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

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

NCBI chr20:57,558,966...57,579,163
Ensembl chr20:57,559,424...57,579,118

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 chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109

G

vesicle associated membrane protein 7

CTD Direct Evidence: marker/mechanism

NCBI chr X:123,717,524...123,783,781
Ensembl chr X:123,717,446...123,783,014

G

WEE1 G2 checkpoint kinase

CTD Direct Evidence: marker/mechanism

NCBI chr21:32,843,263...32,862,114
Ensembl chr21:32,843,320...32,862,130

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 chr 5:32,574,153...32,586,222
Ensembl chr 5:32,574,134...32,594,333

G

Yes1 associated transcriptional regulator

CTD Direct Evidence: marker/mechanism

NCBI chr 5:29,394,760...29,495,977
Ensembl chr 5:29,394,541...29,496,251

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 chr 9:21,863,715...21,868,587
Ensembl chr 9:21,863,767...21,868,587

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 chr37:12,503,849...12,536,362
Ensembl chr37:12,503,811...12,532,854

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 3:72,272,446...72,277,015
Ensembl chr 3:72,276,418...72,276,993

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 chr29:26,384,493...26,422,586
Ensembl chr29:26,384,493...26,422,737

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 chr12:5,746,898...5,755,103
Ensembl chr12:5,745,852...5,892,281

G

hepatocyte growth factor

protein:increased expression:inferior nasal concha:

NCBI chr18:21,329,688...21,410,257
Ensembl chr18:21,332,817...21,410,263

G

kinase insert domain receptor

protein:increased expression:inferior nasal concha:

NCBI chr13:47,442,861...47,484,574
Ensembl chr13:47,442,764...47,485,042

G

vascular endothelial growth factor A

protein:increased expression:inferior nasal concha:

NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965

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 9:48,975,972...49,018,985
Ensembl chr 9:48,974,757...49,017,277

G

notch receptor 2

ClinVar Annotator: match by term: Keratoacanthoma

NCBI chr17:56,854,825...57,020,157
Ensembl chr17:56,860,429...57,020,857

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 chr34:12,600,140...12,681,905
Ensembl chr34:12,600,233...12,675,910

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 7:19,668,079...19,674,903
Ensembl chr 7:19,668,082...19,674,903

G

serpin family A member 3

protein:decreased expression:serum

NCBI chr 8:63,588,188...63,596,955
Ensembl chr 8:63,587,891...63,596,954

G

transporter 1, ATP binding cassette subfamily B member

NCBI chr12:2,424,049...2,432,165
Ensembl chr12:2,378,126...2,432,303

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 chr24:32,083,786...32,119,810
Ensembl chr24:32,083,931...32,111,160

G

catalase

protein:increased activity:larynx

NCBI chr18:33,383,005...33,422,447
Ensembl chr18:33,383,005...33,422,447

G

cell division cycle 73

disease_progression

protein:decreased expression:larynx (human)

NCBI chr38:5,826,209...5,937,930
Ensembl chr38:5,805,916...5,938,111

G

cyclin dependent kinase inhibitor 1A

NCBI chr12:5,746,898...5,755,103
Ensembl chr12:5,745,852...5,892,281

G

chromodomain helicase DNA binding protein 4

exacerbates

mRNA:increased expression:larynx (human)

NCBI chr27:38,411,009...38,440,367
Ensembl chr27:38,411,075...38,439,958

G

epidermal growth factor receptor

disease_progression

NCBI chr18:5,983,669...6,044,092
Ensembl chr18:5,982,770...6,042,631

G

erb-b2 receptor tyrosine kinase 2

disease_progression

NCBI chr 9:22,760,373...22,785,367
Ensembl chr 9:22,759,256...22,785,294

G

erb-b2 receptor tyrosine kinase 3

disease_progression

NCBI chr10:406,856...424,746
Ensembl chr10:406,633...424,264

G

erb-b2 receptor tyrosine kinase 4

disease_progression

NCBI chr37:19,029,647...20,134,576
Ensembl chr37:19,037,217...20,134,426

G

forkhead box L2

exacerbates

mRNA:increased expression:larynx (human)

NCBI chr23:35,145,856...35,147,185

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 chr20:39,889,165...39,890,253
Ensembl chr20:39,889,174...39,890,260

G

mitogen-activated protein kinase kinase 4

severity

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

NCBI chr 5:36,142,610...36,243,673
Ensembl chr 5:36,118,388...36,241,296

G

microRNA mir-10a

severity

miRNA:decreased expression:blood serum (human)

NCBI chr 9:24,842,171...24,842,233
Ensembl chr 9:24,842,145...24,842,248

G

microRNA mir-136

RNA:decreased expression:larynx (human)

NCBI chr 8:69,106,615...69,106,670
Ensembl chr 8:69,106,598...69,106,687

G

microRNA mir-21

exacerbates

miRNA:increased expression:blood serum (human)

NCBI chr 9:34,340,550...34,340,609
Ensembl chr 9:34,340,533...34,340,624

G

microRNA mir-31

disease_progression

RNA:decreased expression:mucosa of larynx (human)

NCBI chr11:40,904,438...40,904,496
Ensembl chr11:40,904,437...40,904,503

G

mutL homolog 1

disease_progression

mRNA:decreased expression:larynx

NCBI chr23:6,889,108...6,938,117
Ensembl chr23:6,889,135...6,938,116

G

matrix metallopeptidase 2

NCBI chr 2:60,471,092...60,492,991
Ensembl chr 2:60,471,257...60,494,113

G

mutS homolog 2

disease_progression

mRNA:decreased expression:larynx

NCBI chr10:49,517,448...49,594,001
Ensembl chr10:49,517,369...49,594,210

G

phospholipase C gamma 1

ameliorates

mRNA:increased expression:larynx (human)

NCBI chr24:29,198,536...29,213,899
Ensembl chr24:29,198,556...29,214,714

G

RELA proto-oncogene, NF-kB subunit

severity

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

NCBI chr18:51,550,003...51,558,861
Ensembl chr18:51,550,040...51,558,875

G

xanthine dehydrogenase

protein:increased activity:larynx

NCBI chr17:24,900,708...24,960,748
Ensembl chr17:24,901,447...24,971,935

G

X-ray repair cross complementing 1

ClinVar Annotator: match by term: Laryngeal squamous cell carcinoma

NCBI chr 1:111,548,719...111,571,816
Ensembl chr 1:111,548,719...111,571,816

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 chr17:23,010,308...23,688,841
Ensembl chr17:23,010,308...23,688,841

G

Rho GTPase activating protein 44

mRNA:decreased expression:lung (human)

NCBI chr 5:36,790,059...36,957,932
Ensembl chr 5:36,789,814...36,957,411

G

AT-rich interaction domain 1A

exacerbates

protein:decreased expression:lung (human)

NCBI chr 2:73,331,606...73,401,151
Ensembl chr 2:73,324,852...73,401,102

G

actin related protein 2/3 complex subunit 5

mRNA:increased expression:lung (human)

NCBI chr 7:16,976,392...16,986,015
Ensembl chr 7:16,977,555...16,985,943

G

ATM serine/threonine kinase

susceptibility

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

NCBI chr 5:24,180,129...24,297,207
Ensembl chr 5:24,182,135...24,297,207

G

ATRX chromatin remodeler

severity

NCBI chr X:59,772,067...60,107,016
Ensembl chr X:59,774,585...60,106,980

G

baculoviral IAP repeat containing 5

disease_progression

mRNA:increased expression:lung (human)

NCBI chr 9:2,930,308...2,959,307

G

baculoviral IAP repeat containing 6

disease_progression

mRNA:increased expression:lung (human)

NCBI chr17:25,618,262...25,847,920
Ensembl chr17:25,617,892...25,847,202

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 chr16:8,222,909...8,318,179
Ensembl chr16:8,222,907...8,317,906

G

basigin

mRNA:increased expression:lung

NCBI chr20:57,942,703...57,951,089
Ensembl chr20:57,943,276...57,951,061

G

Cbl proto-oncogene B

disease_progression

NCBI chr33:11,255,453...11,665,755
Ensembl chr33:11,199,863...11,530,810

G

cyclin D1

disease_progression

protein:increased expression:lung

NCBI chr18:48,501,905...48,509,684
Ensembl chr18:48,501,899...48,516,005

G

cyclin D2

DNA:hypermethylation:promoter

NCBI chr27:40,563,306...40,593,362
Ensembl chr27:40,564,921...40,594,255

G

cyclin dependent kinase 4

protein:increased expression:lung

NCBI chr10:1,812,864...1,815,815
Ensembl chr10:1,812,886...1,815,789

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 chr11:41,223,316...41,226,056
Ensembl chr11:41,223,315...41,264,379

G

chromodomain helicase DNA binding protein 4

mRNA:increased expression:lung (human)

NCBI chr27:38,411,009...38,440,367
Ensembl chr27:38,411,075...38,439,958

G

cholinergic receptor nicotinic alpha 5 subunit

susceptibility

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

PMID:20124469 PMID:23314339

RGD:150527849 RGD:150527851

NCBI chr13:38,343,966...38,355,534
Ensembl chr13:38,346,104...38,355,468

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 chr13:38,312,537...38,327,242
Ensembl chr13:38,312,173...38,328,341

G

CLPTM1 like

susceptibility
no_association

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

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

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

NCBI chr34:11,263,274...11,277,666
Ensembl chr34:11,263,162...11,277,436

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 chr 6:37,410,201...37,536,688
Ensembl chr 6:37,409,930...37,534,176

G

colony stimulating factor 1 receptor

protein:increased expression:lung (human)

NCBI chr 4:58,980,699...59,010,683
Ensembl chr 4:58,980,788...59,010,510

G

catenin beta 1

disease_progression

protein:increased expression:lung

NCBI chr23:10,559,722...10,572,933
Ensembl chr23:10,559,718...10,572,927

G

cytochrome c, somatic

treatment

NCBI chr14:38,579,446...38,581,983
Ensembl chr14:38,579,446...38,581,983

G

cytochrome P450 family 1 subfamily B member 1

susceptibility

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

NCBI chr17:30,273,281...30,278,554
Ensembl chr17:30,272,749...30,278,554

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 chr38:20,002,984...20,152,930
Ensembl chr38:20,008,057...20,152,275

G

E2F transcription factor 1

treatment

NCBI chr24:22,895,149...22,904,689
Ensembl chr24:22,878,402...22,904,656

G

E2F transcription factor 3

NCBI chr35:19,012,646...19,086,674
Ensembl chr35:19,012,324...19,083,634

G

eukaryotic translation elongation factor 2

disease_progression

protein:increased expression:lung (human)

NCBI chr20:55,577,413...55,586,422
Ensembl chr20:55,522,213...55,586,126

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 chr18:5,983,669...6,044,092
Ensembl chr18:5,982,770...6,042,631

G

empty spiracles homeobox 2

exacerbates

protein:decreased expression:lung (human)

NCBI chr28:28,002,966...28,009,955
Ensembl chr28:28,003,710...28,009,035

G

ERCC excision repair 6, chromatin remodeling factor

mRNA, protein:increased expression:lung (human)

NCBI chr28:1,358,383...1,432,276
Ensembl chr28:1,361,107...1,427,162

G

ERCC excision repair 6 like, spindle assembly checkpoint helicase

mRNA:increased expression:lung (human)

NCBI chr X:56,239,820...56,260,384
Ensembl chr X:56,239,850...56,260,759

G

fibroblast activation protein alpha

disease_progression

NCBI chr36:7,574,364...7,647,448
Ensembl chr36:7,575,161...7,647,226

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 chr15:50,187,579...50,417,188
Ensembl chr15:50,189,240...50,417,195

G

fibroblast growth factor 9

mRNA:decreased expression:lung (human)

NCBI chr25:16,630,321...16,665,935
Ensembl chr25:16,632,812...16,663,550

G

fibroblast growth factor receptor 2

ClinVar Annotator: match by term: Squamous cell lung carcinoma

NCBI chr28:31,303,882...31,411,015
Ensembl chr28:31,303,894...31,411,621

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 3:62,309,128...62,318,932
Ensembl chr 3:62,303,756...62,323,896

G

fibroblast growth factor receptor 4

disease_progression

human cells in mouse model

NCBI chr 4:36,243,689...36,254,636
Ensembl chr 4:36,244,220...36,252,035

G

frizzled related protein

protein:decreased expression:lung (human)

NCBI chr36:25,884,557...25,907,436
Ensembl chr36:25,884,557...25,907,369

G

far upstream element binding protein 1

mRNA:decreased expression:lung (human)

NCBI chr 6:68,923,215...68,963,766

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 chr20:39,889,165...39,890,253
Ensembl chr20:39,889,174...39,890,260

G

HRas proto-oncogene, GTPase

ClinVar Annotator: match by term: Squamous cell lung carcinoma

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

NCBI chr18:25,642,844...25,644,717
Ensembl chr18:25,642,844...25,644,717

G

isocitrate dehydrogenase (NADP(+)) 1

protein:increased expression:blood plasma (human)

NCBI chr37:16,512,027...16,531,269
Ensembl chr37:16,512,770...16,531,219

G

isocitrate dehydrogenase (NADP(+)) 2

severity
susceptibility

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

PMID:27649069 PMID:29465809 PMID:30128035

RGD:149735564 RGD:149735566 RGD:149735567

NCBI chr 3:53,070,462...53,077,566
Ensembl chr 3:53,070,695...53,087,496

G

KIT proto-oncogene, receptor tyrosine kinase

ClinVar Annotator: match by term: Squamous cell lung carcinoma

NCBI chr13:47,108,442...47,190,935
Ensembl chr13:47,108,504...47,190,029

G

lysine methyltransferase 2D

disease_progression

PMID:24323028 PMID:28177435 PMID:30885352

RGD:150523770 RGD:150523776 RGD:150523777

NCBI chr27:5,516,866...5,556,303
Ensembl chr27:5,521,804...5,553,490

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 chr27:22,261,753...22,296,704
Ensembl chr27:22,257,941...22,293,369

G

laminin subunit gamma 2

disease_progression

NCBI chr 7:16,543,541...16,625,304
Ensembl chr 7:16,569,086...16,624,085

G

leucine rich repeat containing 56

ClinVar Annotator: match by term: Squamous cell lung carcinoma

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

NCBI chr18:25,647,024...25,662,646
Ensembl chr18:25,647,882...25,664,220

G

mitogen-activated protein kinase kinase 1

ClinVar Annotator: match by term: Squamous cell lung carcinoma

NCBI chr30:30,683,192...30,760,479
Ensembl chr30:30,683,107...30,760,479

G

mitogen-activated protein kinase kinase 7

mRNA:decreased expression:lung (human)

NCBI chr20:52,594,450...52,604,236
Ensembl chr20:52,594,536...52,602,150

G

MET proto-oncogene, receptor tyrosine kinase

ClinVar Annotator: match by term: Squamous cell lung carcinoma

NCBI chr14:55,599,047...55,711,626
Ensembl chr14:55,598,337...55,724,027

G

microRNA mir-193a

exacerbates

DNA:Hypermethylation

NCBI chr 9:41,316,481...41,316,536
Ensembl chr 9:41,316,474...41,316,542

G

microRNA mir-20a

NCBI chr22:42,478,462...42,478,520
Ensembl chr22:42,478,462...42,478,520

G

microRNA mir-31

severity

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

PMID:21658006 PMID:21890451

RGD:152998938 RGD:152998950

NCBI chr11:40,904,438...40,904,496
Ensembl chr11:40,904,437...40,904,503

G

microRNA mir-497

NCBI chr 5:32,045,759...32,045,825
Ensembl chr 5:32,045,759...32,045,825

G

microRNA mir-9-3

exacerbates

DNA:Hypermethylation

NCBI chr 3:52,410,840...52,410,900
Ensembl chr 3:52,410,825...52,410,914

G

platelet derived growth factor receptor alpha

ClinVar Annotator: match by term: Squamous cell lung carcinoma

PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr13:46,729,722...46,775,828
Ensembl chr13:46,730,703...46,773,278

G

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

ClinVar Annotator: match by term: Squamous cell lung carcinoma

NCBI chr34:12,600,140...12,681,905
Ensembl chr34:12,600,233...12,675,910

G

DNA polymerase epsilon, catalytic subunit

ameliorates

DNA:mutations:multiple (human)

NCBI chr26:433,990...481,018
Ensembl chr26:433,879...479,917

G

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

mRNA:increased expression:lung (human)

NCBI chr29:17,458,098...17,738,069
Ensembl chr29:17,458,281...17,735,170

G

patched 1

disease_progression

DNA:CNVs

NCBI chr 1:71,246,750...71,309,036
Ensembl chr 1:71,238,195...71,305,662

G

phosphatase and tensin homolog

ClinVar Annotator: match by term: Squamous cell lung carcinoma

NCBI chr26:37,853,148...37,913,176
Ensembl chr26:37,835,661...37,913,176

G

protein tyrosine kinase 2

severity

NCBI chr13:35,302,439...35,541,336
Ensembl chr13:35,303,380...35,541,294

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 chr26:9,989,218...10,072,245
Ensembl chr26:9,989,425...10,067,481

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 chr32:10,125,447...10,328,764
Ensembl chr32:10,125,441...10,328,757

G

protein tyrosine phosphatase receptor type J

susceptibility

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

NCBI chr18:41,586,262...41,635,386
Ensembl chr18:41,586,112...41,635,308

G

RAD52 homolog, DNA repair protein

ameliorates
susceptibility

DNA:SNP: (rs6489769) (human)

PMID:22585858 PMID:28415565

RGD:151660334 RGD:151660345

NCBI chr27:42,915,334...43,032,293
Ensembl chr27:42,915,634...42,951,323

G

surfactant protein B

susceptibility

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

PMID:12107845 PMID:16570259

RGD:151667424 RGD:4143389

NCBI chr17:39,419,305...39,428,513
Ensembl chr17:39,386,584...39,426,229

G

solute carrier family 7 member 5

NCBI chr 5:65,313,105...65,343,858
Ensembl chr 5:65,313,105...65,343,858

G

SRY-box transcription factor 30

disease_progression

NCBI chr 4:52,587,163...52,615,945
Ensembl chr 4:52,587,355...52,615,945

G

SRC proto-oncogene, non-receptor tyrosine kinase

severity

NCBI chr24:25,982,499...26,019,748
Ensembl chr24:25,999,048...26,018,077

G

serine and arginine rich splicing factor 1

protein:increased expression:lung epithelium

NCBI chr 9:32,692,517...32,696,325
Ensembl chr 9:32,694,073...32,696,285

G

serine and arginine rich splicing factor 2

protein:increased expression:lung epithelium,nucleus

NCBI chr 9:4,028,414...4,032,371
Ensembl chr 9:4,028,482...4,030,793

G

serine/threonine kinase 11

ClinVar Annotator: match by term: Squamous cell lung carcinoma

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

NCBI chr20:57,558,966...57,579,163
Ensembl chr20:57,559,424...57,579,118

G

sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1

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

NCBI chr 6:18,176,156...18,179,492
Ensembl chr 6:18,176,355...18,179,489

G

telomerase reverse transcriptase

susceptibility

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

PMID:23908149 PMID:31935503

RGD:150530498 RGD:150530635

NCBI chr34:11,288,622...11,307,790
Ensembl chr34:11,288,622...11,307,951

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 chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109

G

tumor protein p73

treatment

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

PMID:27246533 PMID:30420492

RGD:151347580 RGD:151347584

NCBI chr 5:58,194,385...58,241,159
Ensembl chr 5:58,187,826...58,240,839

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 chr27:3,009,710...3,029,726
Ensembl chr27:2,994,857...3,042,396

G

adenosine deaminase

treatment

NCBI chr24:32,083,786...32,119,810
Ensembl chr24:32,083,931...32,111,160

G

ADAM metallopeptidase with thrombospondin type 1 motif 2

CTD Direct Evidence: marker/mechanism

NCBI chr11:2,279,983...2,504,630
Ensembl chr11:2,280,108...2,502,635

G

argonaute RISC component 1

CTD Direct Evidence: marker/mechanism

NCBI chr15:6,258,359...6,294,911
Ensembl chr15:6,263,882...6,295,338

G

argonaute RISC catalytic component 2

CTD Direct Evidence: marker/mechanism

NCBI chr13:35,169,243...35,230,252
Ensembl chr13:35,180,912...35,268,577

G

annexin A2

CTD Direct Evidence: marker/mechanism

NCBI chr30:25,176,845...25,210,244
Ensembl chr30:25,115,842...25,218,281

G

apolipoprotein A1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:16,740,071...16,742,081
Ensembl chr 5:16,740,130...16,741,943

G

BRCA1 associated deubiquitinase 1

CTD Direct Evidence: marker/mechanism

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

NCBI chr20:37,355,499...37,364,298
Ensembl chr20:37,355,494...37,511,125

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 6:62,712,937...62,723,852
Ensembl chr 6:62,712,971...62,722,368

G

BCL2 apoptosis regulator

CTD Direct Evidence: marker/mechanism

NCBI chr 1:13,733,849...13,900,653
Ensembl chr 1:13,731,406...13,900,658

G

complement C9

CTD Direct Evidence: marker/mechanism

NCBI chr 4:69,660,861...69,719,793
Ensembl chr 4:69,660,907...69,719,562

G

calbindin 2

CTD Direct Evidence: marker/mechanism

NCBI chr 5:77,178,158...77,205,663
Ensembl chr 5:77,177,951...77,205,671

G

chemokine (C-C motif) ligand 23

CTD Direct Evidence: marker/mechanism

NCBI chr 9:37,763,342...37,767,011

G

C-C motif chemokine ligand 27

CTD Direct Evidence: marker/mechanism

NCBI chr11:51,334,870...51,338,752
Ensembl chr11:51,334,778...51,335,591

G

C-C motif chemokine ligand 5

CTD Direct Evidence: marker/mechanism

NCBI chr 9:37,817,409...37,823,852
Ensembl chr 9:37,817,305...37,823,852

G

C-C motif chemokine ligand 7

CTD Direct Evidence: marker/mechanism

NCBI chr 9:38,994,638...38,996,103
Ensembl chr 9:38,993,911...39,010,483

G

cyclin E2

CTD Direct Evidence: marker/mechanism

NCBI chr29:39,534,872...39,551,141
Ensembl chr29:39,534,968...39,546,566

G

CD40 molecule

treatment

NCBI chr24:33,352,992...33,383,488
Ensembl chr24:33,372,930...33,383,301

G

cadherin 5

CTD Direct Evidence: marker/mechanism

NCBI chr 5:82,830,505...82,863,931
Ensembl chr 5:82,830,939...82,863,882

G

cyclin dependent kinase 6

CTD Direct Evidence: marker/mechanism

NCBI chr14:18,178,352...18,413,869
Ensembl chr14:18,188,429...18,419,869

G

cyclin dependent kinase inhibitor 1A

CTD Direct Evidence: marker/mechanism

NCBI chr12:5,746,898...5,755,103
Ensembl chr12:5,745,852...5,892,281

G

cyclin dependent kinase inhibitor 2A

CTD Direct Evidence: marker/mechanism

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

NCBI chr11:41,223,316...41,226,056
Ensembl chr11:41,223,315...41,264,379

G

cilia and flagella associated protein 45

CTD Direct Evidence: marker/mechanism

NCBI chr38:22,245,879...22,269,363
Ensembl chr38:22,254,472...22,269,322

G

claudin 10

CTD Direct Evidence: marker/mechanism

NCBI chr22:46,098,671...46,225,239
Ensembl chr22:46,098,933...46,225,153

G

claudin 15

CTD Direct Evidence: marker/mechanism

NCBI chr 6:8,647,372...8,651,869
Ensembl chr 6:8,647,712...8,652,650

G

claudin 4

CTD Direct Evidence: marker/mechanism

NCBI chr 6:6,492,706...6,506,750
Ensembl chr 6:6,493,513...6,494,145

G

claudin 5

CTD Direct Evidence: marker/mechanism

NCBI chr26:29,702,464...29,704,950
Ensembl chr26:29,703,683...29,704,339

G

claudin 8

CTD Direct Evidence: marker/mechanism

NCBI chr31:25,088,451...25,090,719
Ensembl chr31:25,067,825...25,090,388

G

C-type lectin domain containing 11A

CTD Direct Evidence: marker/mechanism

NCBI chr 1:106,078,055...106,080,473
Ensembl chr 1:106,078,291...106,080,517

G

collagen type XII alpha 1 chain

CTD Direct Evidence: marker/mechanism

NCBI chr12:36,720,686...36,838,321
Ensembl chr12:36,646,408...36,838,622

G

COPI coat complex subunit gamma 1

CTD Direct Evidence: marker/mechanism

NCBI chr20:2,832,150...2,860,356
Ensembl chr20:2,832,198...2,860,320

G

colony stimulating factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:42,028,454...42,047,028
Ensembl chr 6:42,034,149...42,049,371

G

catenin beta 1

CTD Direct Evidence: marker/mechanism

NCBI chr23:10,559,722...10,572,933
Ensembl chr23:10,559,718...10,572,927

G

C-X-C motif chemokine ligand 12

CTD Direct Evidence: marker/mechanism

NCBI chr28:2,895,916...2,903,543

G

C-X-C motif chemokine ligand 13

CTD Direct Evidence: marker/mechanism

NCBI chr32:2,047,277...2,053,277
Ensembl chr32:2,047,315...2,052,833

G

C-X-C motif chemokine ligand 8

CTD Direct Evidence: marker/mechanism

PMID:25162674 PMID:28377727

NCBI chr13:62,435,035...62,438,354
Ensembl chr13:62,434,422...62,438,354

G

DEAD-box helicase 3 X-linked

CTD Direct Evidence: marker/mechanism

NCBI chr X:35,759,367...35,789,759
Ensembl chr X:35,759,416...35,789,774

G

DEAD-box helicase 51

CTD Direct Evidence: marker/mechanism

NCBI chr26:832,276...838,205
Ensembl chr26:830,930...837,338

G

EGF containing fibulin extracellular matrix protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:56,632,801...56,694,872
Ensembl chr10:56,579,899...56,787,187

G

epidermal growth factor receptor

CTD Direct Evidence: marker/mechanism

NCBI chr18:5,983,669...6,044,092
Ensembl chr18:5,982,770...6,042,631

G

ecto-NOX disulfide-thiol exchanger 2

CTD Direct Evidence: marker/mechanism

NCBI chr X:101,742,417...102,023,786
Ensembl chr X:101,745,195...102,006,484

G

epoxide hydrolase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:38,964,319...39,004,902
Ensembl chr 7:38,964,338...38,999,238

G

coagulation factor IX

CTD Direct Evidence: marker/mechanism

NCBI chr X:109,501,341...109,533,798
Ensembl chr X:109,501,341...109,533,798

G

FYVE, RhoGEF and PH domain containing 6

CTD Direct Evidence: marker/mechanism

NCBI chr15:35,050,993...35,162,421
Ensembl chr15:35,055,469...35,162,224

G

fibroblast growth factor 18

CTD Direct Evidence: marker/mechanism

NCBI chr 4:40,714,891...40,748,892
Ensembl chr 4:40,715,060...40,748,518

G

fibroblast growth factor 9

CTD Direct Evidence: marker/mechanism

NCBI chr25:16,630,321...16,665,935
Ensembl chr25:16,632,812...16,663,550

G

fibronectin 1

CTD Direct Evidence: marker/mechanism

NCBI chr37:22,456,854...22,522,410
Ensembl chr37:22,420,428...22,523,123

G

ferritin heavy chain 1

CTD Direct Evidence: marker/mechanism

NCBI chr18:54,466,167...54,468,733
Ensembl chr18:54,466,023...54,468,732

G

G protein-coupled receptor 27

CTD Direct Evidence: marker/mechanism

G

G protein-coupled receptor 37

CTD Direct Evidence: marker/mechanism

NCBI chr14:11,113,584...11,137,639
Ensembl chr14:11,114,415...11,132,395

G

histone deacetylase 4

CTD Direct Evidence: marker/mechanism

NCBI chr25:49,318,621...49,545,314
Ensembl chr25:49,317,349...49,453,478

G

hephaestin

CTD Direct Evidence: marker/mechanism

NCBI chr X:50,989,918...51,102,777
Ensembl chr X:50,989,700...51,101,189

G

hepatocyte growth factor

CTD Direct Evidence: marker/mechanism

NCBI chr18:21,329,688...21,410,257
Ensembl chr18:21,332,817...21,410,263

G

HtrA serine peptidase 1

disease_progression

protein:increased expression:mesothelium (human)

NCBI chr28:32,133,779...32,157,835
Ensembl chr28:32,132,547...32,157,409

G

intercellular adhesion molecule 2

CTD Direct Evidence: marker/mechanism

NCBI chr 9:11,903,593...11,908,835
Ensembl chr 9:11,903,588...11,918,334
Ensembl chr 9:11,903,588...11,918,334

G

interferon gamma

CTD Direct Evidence: marker/mechanism

NCBI chr10:10,406,866...10,411,698
Ensembl chr10:10,406,867...10,411,698

G

insulin like growth factor 2 mRNA binding protein 3

CTD Direct Evidence: marker/mechanism

NCBI chr14:36,969,128...37,120,609
Ensembl chr14:36,971,420...37,120,193

G

interleukin 12B

CTD Direct Evidence: marker/mechanism

NCBI chr 4:51,178,637...51,194,606
Ensembl chr 4:51,183,568...51,193,228

G

interleukin 1 alpha

CTD Direct Evidence: marker/mechanism

NCBI chr17:36,969,581...36,979,445
Ensembl chr17:36,970,573...36,979,435

G

interleukin 2 receptor subunit alpha

CTD Direct Evidence: marker/mechanism

NCBI chr 2:29,892,130...29,948,926
Ensembl chr 2:29,894,125...29,944,643

G

interleukin 3

CTD Direct Evidence: marker/mechanism

NCBI chr11:20,330,480...20,332,668
Ensembl chr11:20,330,480...20,332,668

G

interleukin 4

CTD Direct Evidence: marker/mechanism

NCBI chr11:20,972,693...20,981,539
Ensembl chr11:20,972,690...20,981,534

G

interleukin 6

CTD Direct Evidence: marker/mechanism

NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519

G

integrin linked kinase

CTD Direct Evidence: marker/mechanism

NCBI chr21:29,911,326...29,917,972
Ensembl chr21:29,911,364...29,917,974

G

lysine acetyltransferase 5

CTD Direct Evidence: therapeutic

NCBI chr18:51,499,615...51,507,434
Ensembl chr18:51,499,938...51,576,699

G

KIT proto-oncogene, receptor tyrosine kinase

CTD Direct Evidence: marker/mechanism

NCBI chr13:47,108,442...47,190,935
Ensembl chr13:47,108,504...47,190,029

G

LIM and calponin homology domains 1

CTD Direct Evidence: marker/mechanism

NCBI chr13:38,518,653...38,816,804
Ensembl chr13:38,518,644...38,814,369

G

thioredoxin-like

CTD Direct Evidence: marker/mechanism

NCBI chr X:82,986,288...82,986,753

G

serotransferrin

CTD Direct Evidence: marker/mechanism

NCBI chr23:30,658,250...30,683,816
Ensembl chr23:30,595,704...30,683,845

G

chemokine (C-C motif) ligand 3

CTD Direct Evidence: marker/mechanism

NCBI chr 9:37,708,561...37,710,209
Ensembl chr 9:37,676,966...37,710,209

G

mesothelin

CTD Direct Evidence: marker/mechanism

PMID:19190155 PMID:27032653

NCBI chr 6:39,827,985...39,834,945

G

lymphotoxin alpha

CTD Direct Evidence: marker/mechanism

NCBI chr12:1,070,608...1,073,053
Ensembl chr12:1,071,192...1,073,067

G

melanoma cell adhesion molecule

disease_progression

CTD Direct Evidence: marker/mechanism

PMID:22784439 PMID:23621518

NCBI chr 5:14,590,252...14,598,901
Ensembl chr 5:14,567,238...14,598,149

G

midkine

CTD Direct Evidence: marker/mechanism

G

MET proto-oncogene, receptor tyrosine kinase

CTD Direct Evidence: marker/mechanism

NCBI chr14:55,599,047...55,711,626
Ensembl chr14:55,598,337...55,724,027

G

macrophage migration inhibitory factor

CTD Direct Evidence: marker/mechanism

G

microRNA mir-125a

CTD Direct Evidence: marker/mechanism

NCBI chr 1:105,400,273...105,400,332
Ensembl chr 1:105,400,270...105,400,337

G

microRNA mir-126

CTD Direct Evidence: marker/mechanism

NCBI chr 9:48,879,438...48,879,496
Ensembl chr 9:48,879,432...48,879,504

G

microRNA mir-197

CTD Direct Evidence: marker/mechanism

NCBI chr 6:42,271,719...42,271,779
Ensembl chr 6:42,271,708...42,271,797

G

microRNA mir-32

CTD Direct Evidence: marker/mechanism

NCBI chr11:64,197,130...64,197,191
Ensembl chr11:64,197,129...64,197,196

G

melan-A

CTD Direct Evidence: marker/mechanism

NCBI chr11:26,838,766...26,913,337
Ensembl chr11:26,900,767...26,913,334

G

myotubularin related protein 4

CTD Direct Evidence: marker/mechanism

NCBI chr 9:33,110,983...33,136,843
Ensembl chr 9:33,112,143...33,136,684

G

mucin 1, cell surface associated

CTD Direct Evidence: marker/mechanism

NCBI chr 7:42,338,939...42,344,690
Ensembl chr 7:42,340,375...42,344,690

G

nanos C2HC-type zinc finger 1

CTD Direct Evidence: marker/mechanism

NCBI chr28:29,285,422...29,287,236

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 chr26:22,816,869...22,896,103
Ensembl chr26:22,816,551...22,894,196

G

nerve growth factor

CTD Direct Evidence: marker/mechanism

NCBI chr17:52,900,647...52,901,607
Ensembl chr17:52,900,647...52,901,607

G

oncostatin M receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 4:70,016,384...70,067,098
Ensembl chr 4:70,018,022...70,055,216

G

poly(ADP-ribose) polymerase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:38,503,072...38,542,556
Ensembl chr 7:38,503,067...38,542,127

G

podoplanin

CTD Direct Evidence: marker/mechanism

NCBI chr 2:83,552,735...83,581,375
Ensembl chr 2:83,552,830...83,581,375

G

plasmolipin

CTD Direct Evidence: marker/mechanism

NCBI chr 2:59,102,689...59,125,165
Ensembl chr 2:59,102,770...59,124,614

G

protein tyrosine phosphatase receptor type F

CTD Direct Evidence: marker/mechanism

NCBI chr15:16,590,908...16,666,673
Ensembl chr15:16,591,308...16,666,673

G

PYD and CARD domain containing

CTD Direct Evidence: marker/mechanism

NCBI chr 6:17,049,352...17,051,348
Ensembl chr 6:17,049,705...17,051,240

G

Raf-1 proto-oncogene, serine/threonine kinase

CTD Direct Evidence: marker/mechanism

NCBI chr20:5,892,839...5,972,672
Ensembl chr20:5,892,834...5,972,090

G

retinoid X receptor alpha

CTD Direct Evidence: marker/mechanism

NCBI chr 9:50,525,195...50,575,720
Ensembl chr 9:50,484,567...50,573,119

G

ryanodine receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 4:2,371,868...2,908,132
Ensembl chr 4:2,373,114...2,907,875

G

S100 calcium binding protein B

CTD Direct Evidence: marker/mechanism

NCBI chr31:39,783,990...39,788,289
Ensembl chr31:39,784,506...39,788,183

G

syndecan 1

CTD Direct Evidence: marker/mechanism

NCBI chr17:15,220,906...15,243,974
Ensembl chr17:15,222,094...15,243,890

G

ssemaphorin 4F

CTD Direct Evidence: marker/mechanism

NCBI chr17:48,479,389...48,510,659
Ensembl chr17:48,479,659...48,506,660

G

serpin family A member 4

CTD Direct Evidence: marker/mechanism

NCBI chr 8:63,552,033...63,560,667
Ensembl chr 8:63,552,107...63,560,667

G

SET domain containing 2, histone lysine methyltransferase

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

PMID:26928227 PMID:27834213

NCBI chr20:41,675,539...41,800,697
Ensembl chr20:41,675,599...41,800,612

G

SET domain bifurcated histone lysine methyltransferase 1

CTD Direct Evidence: marker/mechanism

NCBI chr17:60,035,819...60,069,721
Ensembl chr17:60,037,379...60,069,551

G

splicing factor 3b subunit 1

CTD Direct Evidence: marker/mechanism

NCBI chr37:6,922,150...6,962,474
Ensembl chr37:6,924,047...6,962,896

G

sex hormone binding globulin

CTD Direct Evidence: marker/mechanism

NCBI chr 5:32,535,738...32,540,627
Ensembl chr 5:32,537,138...32,540,624

G

solute carrier family 22 member 5

CTD Direct Evidence: marker/mechanism

NCBI chr11:20,659,023...20,686,359
Ensembl chr11:20,598,888...20,683,087

G

solute carrier family 2 member 1

CTD Direct Evidence: marker/mechanism

NCBI chr15:463,307...493,145
Ensembl chr15:463,237...493,140

G

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:90,709,221...90,884,295
Ensembl chr 1:90,712,520...90,883,622

G

superoxide dismutase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:48,943,472...48,955,158
Ensembl chr 1:48,836,262...48,955,706

G

TBL1X/Y related 1

CTD Direct Evidence: marker/mechanism

NCBI chr34:40,573,631...40,690,975
Ensembl chr34:40,578,507...40,739,352

G

transcription factor Dp-2

CTD Direct Evidence: marker/mechanism

NCBI chr23:37,757,858...37,871,632
Ensembl chr23:37,757,685...37,871,612

G

transforming growth factor beta 2

CTD Direct Evidence: marker/mechanism

NCBI chr38:13,430,832...13,511,655
Ensembl chr38:13,429,148...13,510,242

G

TNF receptor superfamily member 8

CTD Direct Evidence: marker/mechanism

NCBI chr 2:84,185,445...84,225,986
Ensembl chr 2:84,186,961...84,232,675

G

tumor protein p53

CTD Direct Evidence: marker/mechanism

PMID:26928227 PMID:37441092

NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109

G

TNF receptor associated factor 7

CTD Direct Evidence: marker/mechanism

NCBI chr 6:38,788,451...38,805,666
Ensembl chr 6:38,788,454...38,962,167

G

unc-51 like autophagy activating kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 5:40,355,070...40,437,758
Ensembl chr 5:40,354,263...40,435,747

G

vimentin

CTD Direct Evidence: marker/mechanism

NCBI chr 2:19,671,316...19,679,367
Ensembl chr 2:19,671,316...19,679,466

G

Wnt family member 3

CTD Direct Evidence: marker/mechanism

NCBI chr 9:10,073,019...10,124,454
Ensembl chr 9:10,077,567...10,124,508

G

WT1 transcription factor

ClinVar Annotator: match by term: Mesothelioma, malignant

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

NCBI chr18:35,099,660...35,148,767
Ensembl chr18:35,103,934...35,148,000

G

WW and C2 domain containing 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:43,279,788...43,431,503
Ensembl chr 4:43,280,447...43,431,144

G

X-ray repair cross complementing 1

treatment

NCBI chr 1:111,548,719...111,571,816
Ensembl chr 1:111,548,719...111,571,816

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 chr20:37,355,499...37,364,298
Ensembl chr20:37,355,494...37,511,125

G

baculoviral IAP repeat containing 5

exacerbates

mRNA:increased expression:pleura, lung (human)

NCBI chr 9:2,930,308...2,959,307

G

baculoviral IAP repeat containing 7

ameliorates

mRNA:increased expression:pleura, lung (human)

NCBI chr24:46,950,700...46,956,375
Ensembl chr24:46,952,474...46,955,495

G

cholinergic receptor nicotinic alpha 7 subunit

ameliorates

NCBI chr 3:36,852,082...37,164,930
Ensembl chr 3:36,852,543...36,978,399

G

colony stimulating factor 1 receptor

mRNA:increased expression:peritoneum�� (human)

NCBI chr 4:58,980,699...59,010,683
Ensembl chr 4:58,980,788...59,010,510

G

empty spiracles homeobox 2

exacerbates

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

NCBI chr28:28,002,966...28,009,955
Ensembl chr28:28,003,710...28,009,035

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

disease_progression

mRNA, protein:increased expression:pleura

NCBI chr16:1,926,443...1,991,995
Ensembl chr16:1,925,956...1,991,838

G

interleukin 7 receptor

disease_progression

NCBI chr 4:72,633,528...72,668,242
Ensembl chr 4:72,636,325...72,668,300

G

lysine demethylase 6A

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

NCBI chr X:38,745,854...38,964,029
Ensembl chr X:38,745,854...38,959,842

G

microRNA mir-192

miRNA:decreased expression:pleura (human)

NCBI chr18:52,281,129...52,281,193
Ensembl chr18:52,281,129...52,281,193

G

microRNA mir-193a

miRNA:decreased expression:pleura (human)

NCBI chr 9:41,316,481...41,316,536
Ensembl chr 9:41,316,474...41,316,542

G

microRNA mir-200b

miRNA:decreased expression:pleura (human)

NCBI chr 5:56,368,400...56,368,479
Ensembl chr 5:56,368,400...56,368,479

G

mutL homolog 1

disease_progression

NCBI chr23:6,889,108...6,938,117
Ensembl chr23:6,889,135...6,938,116

G

nuclear receptor coactivator 2

ameliorates

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

NCBI chr29:19,253,849...19,471,640
Ensembl chr29:19,222,842...19,545,371

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 chr26:22,816,869...22,896,103
Ensembl chr26:22,816,551...22,894,196

G

RAD21 cohesin complex component

NCBI chr13:16,337,563...16,368,041
Ensembl chr13:16,338,972...16,368,035

G

SET domain containing 2, histone lysine methyltransferase

disease_progression

DNA:mutations:CDS:multiple (human)

PMID:26928227 PMID:33691361

RGD:150429647 RGD:150520202

NCBI chr20:41,675,539...41,800,697
Ensembl chr20:41,675,599...41,800,612

G

solute carrier family 7 member 5

disease_progression

protein:increased expression:pleura

PMID:22199264 PMID:24912849

RGD:151361201 RGD:151660330

NCBI chr 5:65,313,105...65,343,858
Ensembl chr 5:65,313,105...65,343,858

G

smoothened, frizzled class receptor

disease_progression

DNA:missense mutations

PMID:23379358 PMID:33209614

RGD:150521620 RGD:150521621

NCBI chr14:7,518,871...7,527,703
Ensembl chr14:7,518,856...7,528,033

G

X-linked inhibitor of apoptosis

ameliorates

mRNA:increased expression:pleura, lung (human)

NCBI chr X:95,300,234...95,356,103
Ensembl chr X:95,331,827...95,351,582

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 chr12:5,746,898...5,755,103
Ensembl chr12:5,745,852...5,892,281

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 chr 5:31,264,554...31,299,538
Ensembl chr 5:31,266,621...31,299,304

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 9:53,118,462...53,262,092
Ensembl chr 9:53,119,641...53,261,307

G

adenosine deaminase

disease_progression

NCBI chr24:32,083,786...32,119,810
Ensembl chr24:32,083,931...32,111,160

G

ArfGAP with GTPase domain, ankyrin repeat and PH domain 2

disease_progression

NCBI chr10:1,791,273...1,807,710
Ensembl chr10:1,792,733...1,807,610

G

aldehyde dehydrogenase 1 family member A1

protein:increased expression:oral epithelium

NCBI chr 1:84,940,411...84,994,789
Ensembl chr 1:84,940,411...84,994,789

G

angiopoietin 1

protein:decreased expression:oral mucosa (human)

NCBI chr13:8,068,920...8,312,090
Ensembl chr13:8,048,205...8,311,618

G

angiopoietin 2

protein:increased expression:oral mucosa (human)

NCBI chr16:58,404,049...58,458,344
Ensembl chr16:58,405,259...58,457,701

G

AT-rich interaction domain 2

disease_progression

NCBI chr27:8,411,092...8,579,735
Ensembl chr27:8,412,377...8,579,882

G

actin related protein 2/3 complex subunit 1B

severity

protein:increased expression:oral mucosa (human)

NCBI chr 6:10,192,299...10,198,383
Ensembl chr 6:10,178,462...10,198,309

G

ATM serine/threonine kinase

disease_progression

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

PMID:18288488 PMID:29928356

RGD:150340604 RGD:150340709

NCBI chr 5:24,180,129...24,297,207
Ensembl chr 5:24,182,135...24,297,207

G

ATPase H+ transporting V1 subunit C1

NCBI chr13:4,509,699...4,569,500
Ensembl chr13:4,510,003...4,579,846

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

NCBI chr 6:40,155,797...40,218,330
Ensembl chr 6:40,158,244...40,218,343

G

axin 2

susceptibility
disease_progression
ameliorates

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

PMID:21393552 PMID:33046030

RGD:150530486 RGD:151356656

NCBI chr 9:14,559,476...14,588,950
Ensembl chr 9:14,559,388...14,588,530

G

alpha-2-glycoprotein 1, zinc-binding

protein:increased expression:saliva
protein:decreased expression:saliva

PMID:29199150 PMID:33564003

RGD:153350131 RGD:153350144

NCBI chr 6:9,622,991...9,629,154
Ensembl chr 6:9,622,992...9,629,154

G

BarH like homeobox 2

protein:decreased expression:mouth mucosa

NCBI chr 6:57,971,077...57,977,197
Ensembl chr 6:57,971,018...57,977,211

G

BCL2 like 1

mRNA, protein:increased expression:mouth (human)

NCBI chr24:21,145,214...21,209,425
Ensembl chr24:21,145,215...21,196,355

G

basic helix-loop-helix family member e41

treatment

Human cells in mouse model

NCBI chr27:21,464,302...21,469,119

G

baculoviral IAP repeat containing 2

protein:increased expression:oral cavity (human)

NCBI chr 5:29,294,080...29,314,837
Ensembl chr 5:29,294,692...29,312,771

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 chr 5:29,324,893...29,343,322
Ensembl chr 5:29,325,331...29,337,240

G

baculoviral IAP repeat containing 5

protein:increased expression:oral cavity (human)

NCBI chr 9:2,930,308...2,959,307

G

BMP/retinoic acid inducible neural specific 2

DNA:amplication:oral epithelium

NCBI chr 7:22,332,465...22,449,295
Ensembl chr 7:22,339,056...22,448,854

G

bone marrow stromal cell antigen 2

disease_progression

NCBI chr20:45,383,757...45,387,420
Ensembl chr20:45,383,915...45,387,178

G

Bruton tyrosine kinase

treatment

mRNA:increased expression:oral epithelium (human)

NCBI chr X:75,270,952...75,302,663
Ensembl chr X:75,270,979...75,302,562

G

carbonic anhydrase 12

disease_progression

NCBI chr30:27,903,460...27,957,162
Ensembl chr30:27,905,837...27,957,742

G

calreticulin

exacerbates

protein:increased expression:oral epithelium (human)
protein:increased expression:mouth (human)

PMID:23375593 PMID:28599487

RGD:150520158 RGD:150521688

NCBI chr20:49,251,390...49,255,291
Ensembl chr20:49,251,777...49,255,245

G

calcium/calmodulin dependent protein kinase II inhibitor 1

G

chromobox 2

disease_progression

NCBI chr 9:1,847,867...1,855,923
Ensembl chr 9:1,850,874...1,856,328

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 chr 9:39,008,187...39,009,932

G

C-C motif chemokine receptor 2

susceptibility

DNA:polymorphism,haplotype:cds:p.V64I(human)

NCBI chr20:42,305,344...42,313,258
Ensembl chr20:42,307,580...42,308,698

G

cell division cycle 73

mRNA:altered expression: tongue, oral cavity (human)

NCBI chr38:5,826,209...5,937,930
Ensembl chr38:5,805,916...5,938,111

G

cadherin 1

disease_progression

NCBI chr 5:80,757,508...80,834,878
Ensembl chr 5:80,757,508...80,834,878

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 chr12:5,746,898...5,755,103
Ensembl chr12:5,745,852...5,892,281

G

ceramide synthase 1

exacerbates

NCBI chr20:44,216,568...44,231,820

G

chromatin assembly factor 1 subunit B

disease_progression

protein:increased expression:mouth mucosa:

NCBI chr31:31,599,840...31,620,436
Ensembl chr31:31,600,448...31,619,784

G

CLPTM1 like

susceptibility

DNA:SNP: :rs402710(human)

NCBI chr34:11,263,274...11,277,666
Ensembl chr34:11,263,162...11,277,436

G

catenin delta 1

disease_progression

NCBI chr18:38,415,687...38,469,777
Ensembl chr18:38,417,701...38,462,216

G

cytochrome P450 family 1 subfamily A member 1

NCBI chr30:37,793,277...37,799,535
Ensembl chr30:37,793,508...37,796,866

G

cytochrome P450 family 24 subfamily A member 1

susceptibility

DNA:SNP:exon: (rs2296241) (human)

NCBI chr24:39,861,018...39,878,161
Ensembl chr24:39,862,355...39,878,216

G

cytochrome P450 family 2 subfamily E member 1

NCBI chr28:41,079,164...41,089,188
Ensembl chr28:41,035,025...41,122,754

G

death domain associated protein

ameliorates

human cell line in a mouse model

NCBI chr12:2,755,960...2,760,687
Ensembl chr12:2,755,960...2,761,340

G

discoidin domain receptor tyrosine kinase 1

mRNA, protein:increased expression:mouth (human)

NCBI chr12:653,800...671,190
Ensembl chr12:653,807...670,543

G

discoidin domain receptor tyrosine kinase 2

severity

NCBI chr38:20,002,984...20,152,930
Ensembl chr38:20,008,057...20,152,275

G

DNA methyltransferase 3 beta

disease_progression

NCBI chr24:22,096,386...22,123,378
Ensembl chr24:22,096,349...22,122,900

G

dedicator of cytokinesis 6

disease_progression

NCBI chr20:50,029,354...50,066,829
Ensembl chr20:50,029,369...50,066,829

G

ephrin B2

protein:increased expression:oral mucosa (human)

NCBI chr22:55,567,992...55,609,210
Ensembl chr22:55,566,039...55,609,443

G

epidermal growth factor receptor

NCBI chr18:5,983,669...6,044,092
Ensembl chr18:5,982,770...6,042,631

G

erb-b2 receptor tyrosine kinase 2

NCBI chr 9:22,760,373...22,785,367
Ensembl chr 9:22,759,256...22,785,294

G

erb-b2 receptor tyrosine kinase 4

disease_progression

NCBI chr37:19,029,647...20,134,576
Ensembl chr37:19,037,217...20,134,426

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 chr16:1,926,443...1,991,995
Ensembl chr16:1,925,956...1,991,838

G

FAT atypical cadherin 1

onset

protein:increased expression:tongue (mouse)
DNA:mutations:multiple

PMID:28435450 PMID:30624777

RGD:151347668 RGD:151347687

NCBI chr16:44,113,621...44,241,187
Ensembl chr16:44,128,386...44,241,192

G

fibroblast growth factor receptor 3

associated with human papillomavirus;DNA:missense mutation:cds: p.S249C (human)

NCBI chr 3:62,309,128...62,318,932
Ensembl chr 3:62,303,756...62,323,896

G

fibroblast growth factor receptor 4

severity

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

NCBI chr 4:36,243,689...36,254,636
Ensembl chr 4:36,244,220...36,252,035

G

fms related receptor tyrosine kinase 3

mRNA:decreased expression:oral epithelium (human)

NCBI chr25:11,551,372...11,670,891
Ensembl chr25:11,581,206...11,692,284

G

FOS like 2, AP-1 transcription factor subunit

mRNA, protein:increased expression:mouth (human)

NCBI chr17:22,340,469...22,364,994
Ensembl chr17:22,341,322...22,361,772

G

glutathione peroxidase 1

exacerbates

protein:increased expression:oral cavity (human)

NCBI chr20:39,889,165...39,890,253
Ensembl chr20:39,889,174...39,890,260

G

glutathione peroxidase 4

disease_progression

protein:increased expression:oral cavity (human)

G

glycogen synthase kinase 3 beta

susceptibility

DNA:SNP:intron: (rs9879992) (human)

NCBI chr33:23,458,369...23,659,878
Ensembl chr33:23,463,767...23,659,666

G

glutathione S-transferase pi 1

mRNA,protein:decreased expression:mucosa:

NCBI chr18:49,905,161...49,908,182
Ensembl chr18:49,905,161...49,908,182

G

H2A.X variant histone

disease_progression

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

NCBI chr 5:14,765,625...14,766,590
Ensembl chr 5:14,766,126...14,766,557

G

hes family bHLH transcription factor 1

protein:increased expression:tongue (mouse)

G

interleukin 10

susceptibility

DNA:SNP:promoter:-592A>C (human)

NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057

G

interleukin 13 receptor subunit alpha 2

NCBI chr X:87,747,373...87,776,797
Ensembl chr X:87,747,373...87,776,798

G

interleukin 1 beta

disease_progression

associated with social isolation;protein:increased expression:tongue (rat)

NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458

G

interleukin 2

NCBI chr19:17,750,780...17,756,394
Ensembl chr19:17,750,780...17,756,394

G

interleukin 6

disease_progression

NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519

G

Jun proto-oncogene, AP-1 transcription factor subunit

mRNA, protein:increased expression:mouth (human)

NCBI chr 5:50,966,698...50,968,939

G

JunB proto-oncogene, AP-1 transcription factor subunit

associated with papillomavirus infectious disease;protein:increased expression:oral cavity (human)

NCBI chr20:49,358,904...49,360,746
Ensembl chr20:49,359,399...49,360,442

G

lysine methyltransferase 2D

severity

NCBI chr27:5,516,866...5,556,303
Ensembl chr27:5,521,804...5,553,490

G

glyceraldehyde-3-phosphate dehydrogenase-like

NCBI chr X:51,925,654...51,926,724

G

microcephalin 1

mRNA:protein:decreased expression:oral cavity, tissue (human)

NCBI chr16:58,306,761...58,529,090
Ensembl chr16:58,295,280...58,529,433

G

MET proto-oncogene, receptor tyrosine kinase

protein:increased expression, altered expression:mouth mucosa:

NCBI chr14:55,599,047...55,711,626
Ensembl chr14:55,598,337...55,724,027

G

microRNA mir-155

disease_progression

PMID:28413645 PMID:29909906 PMID:30194167

RGD:21079420 RGD:21079468 RGD:24922225

NCBI chr31:21,078,768...21,078,828
Ensembl chr31:21,078,758...21,078,833

G

microRNA mir-187

RNA:increased expression:plasma

NCBI chr 7:54,261,943...54,262,010
Ensembl chr 7:54,261,943...54,262,010

G

microRNA mir-20a

NCBI chr22:42,478,462...42,478,520
Ensembl chr22:42,478,462...42,478,520

G

microRNA mir-221

exacerbates

NCBI chr X:39,523,890...39,523,951
Ensembl chr X:39,523,885...39,523,954

G

microRNA mir-222

exacerbates
disease_progression

PMID:21226887 PMID:31841247

RGD:151708741 RGD:151708999

NCBI chr X:39,524,519...39,524,608
Ensembl chr X:39,524,519...39,524,608

G

microRNA mir-31

treatment

NCBI chr11:40,904,438...40,904,496
Ensembl chr11:40,904,437...40,904,503

G

methylenetetrahydrofolate reductase

susceptibility

DNA:missense mutation:cds:677C>T (human)

NCBI chr 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818

G

notch receptor 1

protein:increased expression:tongue (mouse)

NCBI chr 9:48,975,972...49,018,985
Ensembl chr 9:48,974,757...49,017,277

G

platelet and endothelial cell adhesion molecule 1

protein:decreased expression:oral mucosa (human)

NCBI chr 9:12,166,124...12,219,553
Ensembl chr 9:12,166,775...12,219,778

G

plasminogen activator, urokinase

severity

protein:increased expression:oral mucosa (rat)

NCBI chr 4:24,329,139...24,333,893
Ensembl chr 4:24,328,925...24,334,851

G

phospholipase C gamma 1

disease_progression
ameliorates

protein:decreased expression:oral cavity (human)

PMID:25085076 PMID:26464646

RGD:11526681 RGD:151356936

NCBI chr24:29,198,536...29,213,899
Ensembl chr24:29,198,556...29,214,714

G

peroxiredoxin 2

protein:increased expression:saliva

NCBI chr20:49,352,271...49,356,755
Ensembl chr20:49,352,266...49,356,682

G

phosphatase and tensin homolog

disease_progression

protein:increased expression:oral epithelium (human)

NCBI chr26:37,853,148...37,913,176
Ensembl chr26:37,835,661...37,913,176

G

prostaglandin I2 synthase

mRNA,protein:decreased expression:mouth mucosa (human)

NCBI chr24:36,129,091...36,162,525
Ensembl chr24:36,132,173...36,162,509

G

protein tyrosine phosphatase non-receptor type 13

treatment

NCBI chr32:10,125,447...10,328,764
Ensembl chr32:10,125,441...10,328,757

G

RAD21 cohesin complex component

exacerbates

mRNA:decreased expression:oral cavity (human)

NCBI chr13:16,337,563...16,368,041
Ensembl chr13:16,338,972...16,368,035

G

RELA proto-oncogene, NF-kB subunit

protein:increased expression:mouth (human)

NCBI chr18:51,550,003...51,558,861
Ensembl chr18:51,550,040...51,558,875

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 6:8,719,547...8,727,160
Ensembl chr 6:8,720,825...8,726,301

G

S-phase kinase associated protein 2

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

NCBI chr 4:72,352,966...72,386,469
Ensembl chr 4:72,352,986...72,386,307

G

solute carrier family 7 member 5

severity

NCBI chr 5:65,313,105...65,343,858
Ensembl chr 5:65,313,105...65,343,858

G

SRY-box transcription factor 2

protein:increased expression:oral epithelium

NCBI chr34:14,853,000...14,855,153

G

telomerase reverse transcriptase

susceptibility

DNA:SNPs: :rs2736100,rs2736098(human)

NCBI chr34:11,288,622...11,307,790
Ensembl chr34:11,288,622...11,307,951

G

tet methylcytosine dioxygenase 2

protein:decreased expression:oral epithelium (human)

NCBI chr32:26,021,745...26,145,109
Ensembl chr32:26,059,693...26,143,536

G

tumor necrosis factor

disease_progression

associated with social isolation;protein:increased expression:tongue (rat)

NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425

G

tumor protein p53

DNA:missense mutations: :multiple
protein:increased expression:mouth (human)

PMID:27283772 PMID:34111459

RGD:14995497 RGD:153344573

NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109

G

transthyretin

protein:increased expression:saliva (human)

NCBI chr 7:57,940,354...57,947,084
Ensembl chr 7:57,914,381...57,947,058

G

vascular endothelial growth factor A

protein:increased expression:oral mucosa (human)

NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965

G

Wnt family member 11

susceptibility

DNA:SNP:exon: A>G (rs1533767) (human)

NCBI chr21:22,442,496...22,463,040
Ensembl chr21:22,446,051...22,463,173

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 chr15:4,857,887...4,876,077
Ensembl chr15:4,856,853...4,876,800

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 chr38:13,430,832...13,511,655
Ensembl chr38:13,429,148...13,510,242

papillary carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

KISS1 receptor

NCBI chr20:57,756,046...57,758,940
Ensembl chr20:57,756,197...57,758,940

G

vascular endothelial growth factor C

disease_progression

associated with thyroid diseases;mRNA:increased expression:thyroid gland:

NCBI chr16:52,883,242...52,987,684
Ensembl chr16:52,883,139...52,987,563

papillary renal cell carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

baculoviral IAP repeat containing 3

exacerbates

mRNA:increased expression:kidney (human)

NCBI chr 5:29,324,893...29,343,322
Ensembl chr 5:29,325,331...29,337,240

G

baculoviral IAP repeat containing 5

disease_progression

mRNA:increased expression:kidney (human)

NCBI chr 9:2,930,308...2,959,307

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 chr16:8,222,909...8,318,179
Ensembl chr16:8,222,907...8,317,906

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 chr18:25,642,844...25,644,717
Ensembl chr18:25,642,844...25,644,717

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 chr18:25,647,024...25,662,646
Ensembl chr18:25,647,882...25,664,220

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 chr14:55,599,047...55,711,626
Ensembl chr14:55,598,337...55,724,027

G

proline rich mitotic checkpoint control factor

NCBI chr 7:41,200,398...41,225,494
Ensembl chr 7:41,200,411...41,226,186

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 chr20:8,206,616...8,211,347
Ensembl chr20:8,206,616...8,211,323

G

X-linked inhibitor of apoptosis

exacerbates

mRNA:increased expression:kidney (human)

NCBI chr X:95,300,234...95,356,103
Ensembl chr X:95,331,827...95,351,582

papilloma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

B9 domain containing 2

disease_progression

CTD Direct Evidence: marker/mechanism

PMID:7954410 PMID:20172950

NCBI chr 1:112,621,832...112,627,726
Ensembl chr 1:112,621,633...112,643,885

G

cyclin D1

CTD Direct Evidence: marker/mechanism

NCBI chr18:48,501,905...48,509,684
Ensembl chr18:48,501,899...48,516,005

G

cyclin dependent kinase inhibitor 1A

CTD Direct Evidence: marker/mechanism

PMID:10430900 PMID:11684723 PMID:12151359

RGD:8662351 RGD:8662432

NCBI chr12:5,746,898...5,755,103
Ensembl chr12:5,745,852...5,892,281

G

epidermal growth factor receptor

susceptibility

CTD Direct Evidence: marker/mechanism

PMID:8603490 PMID:10943841

NCBI chr18:5,983,669...6,044,092
Ensembl chr18:5,982,770...6,042,631

G

erb-b2 receptor tyrosine kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 9:22,760,373...22,785,367
Ensembl chr 9:22,759,256...22,785,294

G

HRas proto-oncogene, GTPase

CTD Direct Evidence: marker/mechanism

NCBI chr18:25,642,844...25,644,717
Ensembl chr18:25,642,844...25,644,717

G

mitogen-activated protein kinase kinase 4

NCBI chr 5:36,142,610...36,243,673
Ensembl chr 5:36,118,388...36,241,296

G

matrix metallopeptidase 2

treatment

associated with Skin Neoplasms

NCBI chr 2:60,471,092...60,492,991
Ensembl chr 2:60,471,257...60,494,113

G

NAD(P)H quinone dehydrogenase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:79,979,593...79,990,875
Ensembl chr 5:79,978,865...79,989,860

G

ornithine decarboxylase 1

CTD Direct Evidence: marker/mechanism

NCBI chr17:7,368,699...7,376,970
Ensembl chr17:7,369,232...7,376,975

G

phospholipase A2 group IVA

associated with Bladder Neoplasms;mRNA:increased expression:bladder

NCBI chr 7:19,804,412...19,955,215
Ensembl chr 7:19,832,664...19,966,936

G

prostaglandin E synthase

mRNA:increased expression:urinary bladder

NCBI chr 9:54,071,472...54,082,232
Ensembl chr 9:54,071,472...54,082,232

G

prostaglandin-endoperoxide synthase 2

CTD Direct Evidence: marker/mechanism

PMID:12151359 PMID:16144915

NCBI chr 7:19,668,079...19,674,903
Ensembl chr 7:19,668,082...19,674,903

G

superoxide dismutase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:48,943,472...48,955,158
Ensembl chr 1:48,836,262...48,955,706

G

transforming growth factor alpha

CTD Direct Evidence: marker/mechanism

NCBI chr10:68,915,671...68,957,027

G

tyrosinase

treatment

NCBI chr21:10,799,940...10,894,187
Ensembl chr21:10,799,940...10,894,191

peritoneal mesothelioma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

large tumor suppressor kinase 1

ClinVar Annotator: match by term: Malignant peritoneal mesothelioma

NCBI chr 1:40,430,096...40,475,193
Ensembl chr 1:40,260,064...40,457,609

G

large tumor suppressor kinase 2

ClinVar Annotator: match by term: Malignant peritoneal mesothelioma

NCBI chr25:17,110,620...17,169,826
Ensembl chr25:17,110,637...17,169,291

G

MDS1 and EVI1 complex locus

ClinVar Annotator: match by term: Malignant peritoneal mesothelioma

NCBI chr34:33,747,495...34,299,389
Ensembl chr34:33,748,843...34,299,276

G

TNF receptor associated factor 7

DNA:missense mutations:multiple

NCBI chr 6:38,788,451...38,805,666
Ensembl chr 6:38,788,454...38,962,167

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)

NCBI chr34:11,263,274...11,277,666
Ensembl chr34:11,263,162...11,277,436

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 chr11:41,223,316...41,226,056
Ensembl chr11:41,223,315...41,264,379

seborrheic keratosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

annexin A1

NCBI chr 1:84,744,159...84,763,011
Ensembl chr 1:84,744,163...84,763,011

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 3:62,309,128...62,318,932
Ensembl chr 3:62,303,756...62,323,896

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 chr34:12,600,140...12,681,905
Ensembl chr34:12,600,233...12,675,910

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 chr25:40,506,385...40,509,903
Ensembl chr25:40,506,753...40,509,709

G

clusterin

NCBI chr25:29,982,811...29,999,565
Ensembl chr25:29,982,811...29,999,563

G

fibroblast growth factor 10

protein:increased expression:skin (mouse)

NCBI chr 4:65,851,130...65,930,944
Ensembl chr 4:65,851,069...65,928,192

G

microRNA mir-21

ameliorates

NCBI chr 9:34,340,550...34,340,609
Ensembl chr 9:34,340,533...34,340,624

G

neuregulin 1

DNA:hypermethylation:

NCBI chr16:31,697,958...32,771,888
Ensembl chr16:31,706,851...32,771,932

G

toll like receptor 2

protein:increased expression,altered expression:cytoplasm,membrane, nucleus:

NCBI chr15:51,454,557...51,465,429
Ensembl chr15:51,454,695...51,465,241

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 chr 5:81,808,512...81,863,811
Ensembl chr 5:81,809,393...81,858,655

G

DEAD-box helicase 5

protein:increased expression:foreskin (human)

NCBI chr 9:12,300,706...12,307,931
Ensembl chr 9:12,300,708...12,307,663

G

FAT atypical cadherin 1

disease_progression

associated with Neoplasm Metastasis

NCBI chr16:44,113,621...44,241,187
Ensembl chr16:44,128,386...44,241,192

G

fibroblast growth factor 10

Pten conditional KO mouse

NCBI chr 4:65,851,130...65,930,944
Ensembl chr 4:65,851,069...65,928,192

G

FYN proto-oncogene, Src family tyrosine kinase

NCBI chr12:68,105,060...68,316,630
Ensembl chr12:68,075,184...68,316,541

G

kinetochore localized astrin (SPAG5) binding protein

DNA:mutation:cds: p.Ser24Phe(human)
DNA:mutation:cds: p.Ala40Glu (human)

PMID:25194279 PMID:30972880

RGD:28867225 RGD:28867226

NCBI chr30:7,562,738...7,573,514
Ensembl chr30:7,562,807...7,572,950

G

phosphatase and tensin homolog

ameliorates

NCBI chr26:37,853,148...37,913,176
Ensembl chr26:37,835,661...37,913,176

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

protein:increased expression:kidney (human)
mRNA:increased expression:renal cortex (human)

PMID:17409424 PMID:19384955

RGD:7240562 RGD:7240563

NCBI chr13:25,200,772...25,205,309
Ensembl chr13:25,200,577...25,205,309

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 4:52,650,077...52,733,299
Ensembl chr 4:52,650,162...52,729,843

G

ADAMTS like 3

ClinVar Annotator: match by term: Squamous cell carcinoma

NCBI chr 3:55,358,869...55,695,198
Ensembl chr 3:55,357,888...55,693,167

G

actin filament associated protein 1 like 2

CTD Direct Evidence: marker/mechanism

NCBI chr28:25,137,235...25,228,454
Ensembl chr28:25,133,296...25,194,431

G

AKT serine/threonine kinase 1

ClinVar Annotator: match by term: Squamous cell carcinoma

NCBI chr 8:72,317,399...72,335,686
Ensembl chr 8:72,317,869...72,335,193

G

annexin A1

CTD Direct Evidence: marker/mechanism

PMID:8919037 PMID:15274141

NCBI chr 1:84,744,159...84,763,011
Ensembl chr 1:84,744,163...84,763,011

G

annexin A2

CTD Direct Evidence: marker/mechanism

NCBI chr30:25,176,845...25,210,244
Ensembl chr30:25,115,842...25,218,281

G

annexin A5

CTD Direct Evidence: marker/mechanism

NCBI chr19:18,419,936...18,450,088
Ensembl chr19:18,407,587...18,570,378

G

APC regulator of WNT signaling pathway

ClinVar Annotator: match by term: Squamous cell carcinoma

NCBI chr 3:252,052...380,506
Ensembl chr 3:253,081...322,993

G

aquaporin 3

CTD Direct Evidence: marker/mechanism

NCBI chr11:50,517,509...50,524,565

G

amphiregulin

CTD Direct Evidence: therapeutic

NCBI chr13:62,925,761...62,936,753
Ensembl chr13:62,926,301...62,936,738

G

ATM serine/threonine kinase

CTD Direct Evidence: marker/mechanism

NCBI chr 5:24,180,129...24,297,207
Ensembl chr 5:24,182,135...24,297,207

G

B9 domain containing 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:112,621,832...112,627,726
Ensembl chr 1:112,621,633...112,643,885

G

BCL2 apoptosis regulator

disease_progression

Protein:increased expression:tongue;associated with mouth neoplasms

NCBI chr 1:13,733,849...13,900,653
Ensembl chr 1:13,731,406...13,900,658

G

baculoviral IAP repeat containing 5

CTD Direct Evidence: marker/mechanism

NCBI chr 9:2,930,308...2,959,307

G

caveolin 1

NCBI chr14:55,458,934...55,494,563
Ensembl chr14:55,461,048...55,492,935

G

C-C motif chemokine ligand 2

CTD Direct Evidence: marker/mechanism

NCBI chr 9:39,008,187...39,009,932

G

cyclin D1

susceptibility

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

PMID:18548202 PMID:26432044

NCBI chr18:48,501,905...48,509,684
Ensembl chr18:48,501,899...48,516,005

G

CD163 molecule

ClinVar Annotator: match by term: Squamous cell carcinoma

NCBI chr27:37,669,757...37,700,746
Ensembl chr27:37,669,827...37,753,106

G

cadherin 1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:80,757,508...80,834,878
Ensembl chr 5:80,757,508...80,834,878

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 chr12:5,746,898...5,755,103
Ensembl chr12:5,745,852...5,892,281

G

cyclin dependent kinase inhibitor 2A

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

PMID:15057871 PMID:25125259

NCBI chr11:41,223,316...41,226,056
Ensembl chr11:41,223,315...41,264,379

G

cyclin dependent kinase inhibitor 2B

protein:decreased expression:skin

NCBI chr11:41,259,627...41,264,832

G

CCAAT enhancer binding protein alpha

CTD Direct Evidence: marker/mechanism

PMID:17510391 PMID:21346772

NCBI chr 1:118,846,252...118,851,045

G

complement factor H

mRNA:increased expression:skin

NCBI chr38:2,878,677...2,956,226

G

cholinergic receptor nicotinic alpha 3 subunit

ClinVar Annotator: match by term: Squamous cell carcinoma

NCBI chr13:38,330,287...38,343,142
Ensembl chr13:38,328,814...38,346,246

G

cholinergic receptor nicotinic alpha 5 subunit

ClinVar Annotator: match by term: Squamous cell carcinoma

NCBI chr13:38,343,966...38,355,534
Ensembl chr13:38,346,104...38,355,468

G

claudin 1

CTD Direct Evidence: marker/mechanism

NCBI chr34:22,303,058...22,319,101
Ensembl chr34:22,303,850...22,319,033

G

clusterin

severity

NCBI chr25:29,982,811...29,999,565
Ensembl chr25:29,982,811...29,999,563

G

CREB binding protein

CTD Direct Evidence: marker/mechanism

NCBI chr 6:37,410,201...37,536,688
Ensembl chr 6:37,409,930...37,534,176

G

crystallin alpha B

CTD Direct Evidence: marker/mechanism

NCBI chr 5:21,181,836...21,185,164
Ensembl chr 5:21,179,936...21,360,132

G

casein kinase 2 alpha 1

CTD Direct Evidence: marker/mechanism

NCBI chr24:20,333,593...20,390,341

G

casein kinase 2 alpha 2

CTD Direct Evidence: marker/mechanism

NCBI chr 2:58,361,328...58,441,701
Ensembl chr 2:58,360,838...58,432,371

G

casein kinase 2 beta

CTD Direct Evidence: marker/mechanism

NCBI chr12:1,149,467...1,154,417
Ensembl chr12:1,149,548...1,154,418

G

cytotoxic T-lymphocyte associated protein 4

susceptibility

DNA:SNP: :rs3087243(human)

NCBI chr37:12,647,712...12,653,874
Ensembl chr37:12,634,563...12,653,874

G

cortactin

CTD Direct Evidence: marker/mechanism

NCBI chr18:47,932,367...47,960,732
Ensembl chr18:47,916,632...47,960,674

G

C-X-C motif chemokine ligand 8

CTD Direct Evidence: marker/mechanism

NCBI chr13:62,435,035...62,438,354
Ensembl chr13:62,434,422...62,438,354

G

cytochrome P450 family 1 subfamily A member 2

CTD Direct Evidence: marker/mechanism

NCBI chr30:37,818,400...37,824,192
Ensembl chr30:37,799,140...37,824,135

G

cytochrome P450 family 1 subfamily B member 1

CTD Direct Evidence: marker/mechanism

NCBI chr17:30,273,281...30,278,554
Ensembl chr17:30,272,749...30,278,554

G

dentin sialophosphoprotein

CTD Direct Evidence: marker/mechanism

NCBI chr32:11,017,440...11,022,780

G

dual specificity phosphatase 1

mRNA:increased expression:saliva

NCBI chr 4:39,588,833...39,591,065
Ensembl chr 4:39,588,339...39,590,514

G

epidermal growth factor receptor

ClinVar Annotator: match by term: Squamous cell carcinoma

NCBI chr18:5,983,669...6,044,092
Ensembl chr18:5,982,770...6,042,631

G

early growth response 1

ClinVar Annotator: match by term: Squamous cell carcinoma

NCBI chr11:26,046,195...26,049,806
Ensembl chr11:26,046,228...26,048,575

G

enolase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:62,300,805...62,314,508
Ensembl chr 5:62,300,808...62,304,093

G

E1A binding protein p300

CTD Direct Evidence: marker/mechanism

NCBI chr10:24,076,538...24,156,708
Ensembl chr10:24,077,971...24,156,396

G

ERCC excision repair 2, TFIIH core complex helicase subunit

CTD Direct Evidence: marker/mechanism

NCBI chr 1:110,173,781...110,191,612
Ensembl chr 1:110,173,715...110,190,125

G

ERCC excision repair 6, chromatin remodeling factor

severity

associated with Cockayne Syndrome

NCBI chr28:1,358,383...1,432,276
Ensembl chr28:1,361,107...1,427,162

G

family with sequence similarity 13 member A

ClinVar Annotator: match by term: Squamous cell carcinoma

NCBI chr32:11,993,628...12,313,165
Ensembl chr32:11,998,114...12,338,803

G

Fas cell surface death receptor

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

NCBI chr26:38,738,811...38,763,298
Ensembl chr26:38,737,611...38,763,321

G

fibroblast growth factor 7

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

NCBI chr30:15,555,016...15,608,230
Ensembl chr30:15,555,266...15,606,521

G

fibroblast growth factor receptor 1

CTD Direct Evidence: marker/mechanism

PMID:22286583 PMID:27794399

NCBI chr16:27,029,902...27,080,514
Ensembl chr16:27,031,588...27,078,261

G

fibroblast growth factor receptor 2

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

NCBI chr28:31,303,882...31,411,015
Ensembl chr28:31,303,894...31,411,621

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 chr20:29,735,380...31,113,859
Ensembl chr20:30,356,572...31,113,859

G

fms related receptor tyrosine kinase 1

ClinVar Annotator: match by term: Squamous cell carcinoma

NCBI chr25:11,231,958...11,410,379
Ensembl chr25:11,231,737...11,407,621

G

forkhead box A1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:16,072,629...16,083,105
Ensembl chr 8:16,079,140...16,083,807

G

forkhead box P2

ClinVar Annotator: match by term: Squamous cell carcinoma

NCBI chr14:53,311,214...53,864,056
Ensembl chr14:53,312,045...53,862,655

G

glyceraldehyde-3-phosphate dehydrogenase

CTD Direct Evidence: marker/mechanism

NCBI chr27:38,468,889...38,472,653
Ensembl chr27:38,468,889...38,472,385

G

glutathione peroxidase 1

CTD Direct Evidence: marker/mechanism

NCBI chr20:39,889,165...39,890,253
Ensembl chr20:39,889,174...39,890,260

G

glutathione S-transferase pi 1

NCBI chr18:49,905,161...49,908,182
Ensembl chr18:49,905,161...49,908,182

G

hydroxycarboxylic acid receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr26:6,748,415...6,750,509

G

histone deacetylase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:68,901,339...68,936,473
Ensembl chr 2:68,901,651...68,936,186

G

histone deacetylase 2

CTD Direct Evidence: marker/mechanism

NCBI chr12:70,053,822...70,083,491
Ensembl chr12:70,053,297...70,103,578

G

hepatocyte growth factor

CTD Direct Evidence: therapeutic

NCBI chr18:21,329,688...21,410,257
Ensembl chr18:21,332,817...21,410,263

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 chr18:25,642,844...25,644,717
Ensembl chr18:25,642,844...25,644,717

G

heat shock protein family A (Hsp70) member 8

CTD Direct Evidence: marker/mechanism

NCBI chr 5:11,292,219...11,296,851
Ensembl chr 5:11,292,262...11,296,797

G

heat shock protein family B (small) member 1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:7,487,164...7,488,576
Ensembl chr 6:7,487,250...7,488,576

G

5-hydroxytryptamine receptor 4

ClinVar Annotator: match by term: Squamous cell carcinoma

NCBI chr 4:60,224,534...60,359,244
Ensembl chr 4:60,185,056...60,353,439

G

interleukin 2

treatment

NCBI chr19:17,750,780...17,756,394
Ensembl chr19:17,750,780...17,756,394

G

interleukin 6

CTD Direct Evidence: marker/mechanism

NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519

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 chr22:58,952,526...58,958,063
Ensembl chr22:58,946,939...58,957,804

G

inositol polyphosphate-5-phosphatase A

CTD Direct Evidence: marker/mechanism

NCBI chr28:40,419,115...40,566,643
Ensembl chr28:40,405,882...40,566,643

G

interleukin 1 receptor associated kinase 1

disease_progression

NCBI chr X:121,853,340...121,862,582
Ensembl chr X:121,819,432...121,862,576

G

integrin subunit alpha 5

CTD Direct Evidence: marker/mechanism

NCBI chr27:904,892...924,757
Ensembl chr27:904,102...924,084

G

integrin subunit beta 1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:3,728,472...3,757,696
Ensembl chr 2:3,670,596...3,756,961

G

involucrin

CTD Direct Evidence: marker/mechanism

NCBI chr17:61,714,470...61,716,961

G

kinase insert domain receptor

NCBI chr13:47,442,861...47,484,574
Ensembl chr13:47,442,764...47,485,042

G

KIT ligand

Squamous cell carcinoma of the digit

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

NCBI chr15:29,591,068...29,671,985
Ensembl chr15:29,591,170...29,671,974

G

KLF transcription factor 5

CTD Direct Evidence: marker/mechanism

NCBI chr22:27,163,179...27,185,241
Ensembl chr22:27,162,397...27,200,871

G

lysine methyltransferase 2C

severity

DNA:mutations:multiple (human)

NCBI chr16:15,962,045...16,117,601
Ensembl chr16:15,963,901...16,158,408

G

kinetochore localized astrin (SPAG5) binding protein

CTD Direct Evidence: marker/mechanism

NCBI chr30:7,562,738...7,573,514
Ensembl chr30:7,562,807...7,572,950

G

KRAS proto-oncogene, GTPase

CTD Direct Evidence: marker/mechanism

PMID:19435901 PMID:25125259

NCBI chr27:22,261,753...22,296,704
Ensembl chr27:22,257,941...22,293,369

G

keratin 1

CTD Direct Evidence: marker/mechanism

NCBI chr27:2,422,150...2,427,160

G

keratin 10

CTD Direct Evidence: marker/mechanism

NCBI chr 9:21,863,715...21,868,587
Ensembl chr 9:21,863,767...21,868,587

G

keratin 14

CTD Direct Evidence: marker/mechanism

NCBI chr 9:21,190,672...21,195,060
Ensembl chr 9:21,156,045...21,265,564

G

leucine rich repeat containing G protein-coupled receptor 6

CTD Direct Evidence: marker/mechanism

NCBI chr 7:731,934...837,092
Ensembl chr 7:731,931...834,893

G

metallothionein-1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:59,603,021...59,604,173
Ensembl chr 2:59,603,014...59,604,132

G

glycine-rich cell wall structural protein 1-like

CTD Direct Evidence: marker/mechanism

NCBI chr 6:38,183,097...38,194,899

G

peptidylprolyl isomerase A (cyclophilin A) pseudogene

CTD Direct Evidence: marker/mechanism

NCBI chr 7:80,937,433...80,938,175

G

caspase-14-like

CTD Direct Evidence: marker/mechanism

NCBI chr23:9,047,897...9,068,151

G

loricrin cornified envelope precursor protein

CTD Direct Evidence: marker/mechanism

NCBI chr17:61,994,297...61,995,591

G

leukotriene A4 hydrolase

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

NCBI chr15:35,795,934...35,830,681
Ensembl chr15:35,795,979...35,830,844

G

leucine zipper tumor suppressor 1

esophageal squamous cell carcinoma, OMIM:133239

NCBI chr25:36,764,235...36,814,204
Ensembl chr25:36,744,061...36,811,972

G

mal, T cell differentiation protein

CTD Direct Evidence: marker/mechanism

NCBI chr17:34,977,298...35,000,690
Ensembl chr17:34,977,298...35,001,349

G

mesencephalic astrocyte derived neurotrophic factor

susceptibility

NCBI chr20:38,196,427...38,200,114
Ensembl chr20:38,196,425...38,199,992

G

mitogen-activated protein kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr26:31,013,607...31,132,998
Ensembl chr26:31,013,607...31,132,998

G

mitogen-activated protein kinase 3

CTD Direct Evidence: marker/mechanism

NCBI chr 6:18,109,184...18,115,728
Ensembl chr 6:18,109,222...18,114,425

G

MET proto-oncogene, receptor tyrosine kinase

CTD Direct Evidence: marker/mechanism

NCBI chr14:55,599,047...55,711,626
Ensembl chr14:55,598,337...55,724,027

G

microRNA mir-205

CTD Direct Evidence: marker/mechanism

NCBI chr 7:8,090,511...8,090,579
Ensembl chr 7:8,090,511...8,090,579

G

mutL homolog 1

ClinVar Annotator: match by term: Squamous cell carcinoma

NCBI chr23:6,889,108...6,938,117
Ensembl chr23:6,889,135...6,938,116

G

matrix metallopeptidase 2

protein:increased expression:nasal mucosa

NCBI chr 2:60,471,092...60,492,991
Ensembl chr 2:60,471,257...60,494,113

G

matrix metallopeptidase 9

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

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

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

NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293

G

mitochondrial ribosomal protein L13

CTD Direct Evidence: marker/mechanism

NCBI chr13:19,266,373...19,313,754
Ensembl chr13:19,266,531...19,313,657

G

membrane spanning 4-domains A1

CTD Direct Evidence: marker/mechanism

NCBI chr21:50,722,142...50,734,934
Ensembl chr21:50,722,041...50,733,704

G

methylenetetrahydrofolate reductase

susceptibility

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

NCBI chr 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818

G

mucin 5AC, oligomeric mucus/gel-forming

ClinVar Annotator: match by term: Squamous cell carcinoma

NCBI chr18:45,471,232...45,498,961

G

MYC proto-oncogene, bHLH transcription factor

CTD Direct Evidence: marker/mechanism

NCBI chr13:25,200,772...25,205,309
Ensembl chr13:25,200,577...25,205,309

G

nuclear receptor coactivator 3

CTD Direct Evidence: marker/mechanism

Ensembl chr24:34,585,305...34,728,674
Ensembl chr24:34,585,305...34,728,674

G

NFE2 like bZIP transcription factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr36:20,989,205...21,087,044
Ensembl chr36:20,989,360...21,012,524

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 8:251,776...313,290
Ensembl chr 8:253,407...313,059

G

non-metastatic cells 1, protein (NM23A) expressed in

severity

protein:decreased expression:tumor (human)

NCBI chr 9:26,990,336...26,998,895
Ensembl chr 9:26,990,469...26,998,955

G

notch receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:48,975,972...49,018,985
Ensembl chr 9:48,974,757...49,017,277

G

notch receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr17:56,854,825...57,020,157
Ensembl chr17:56,860,429...57,020,857

G

notch receptor 3

CTD Direct Evidence: marker/mechanism

NCBI chr20:46,946,654...46,978,821
Ensembl chr20:46,937,485...46,978,219

G

notch receptor 4

CTD Direct Evidence: marker/mechanism

NCBI chr12:1,585,249...1,608,721
Ensembl chr12:1,587,918...1,607,760

G

OCA2 melanosomal transmembrane protein

susceptibility

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

NCBI chr 3:32,361,825...32,713,631
Ensembl chr 3:32,361,517...32,713,572

G

8-oxoguanine DNA glycosylase

NCBI chr20:8,486,150...8,491,448
Ensembl chr20:8,480,005...8,491,264

G

phosphoglycerate mutase 1

CTD Direct Evidence: marker/mechanism

NCBI chr28:10,720,235...10,727,709
Ensembl chr28:10,720,094...10,930,286

G

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

CTD Direct Evidence: marker/mechanism

NCBI chr34:12,600,140...12,681,905
Ensembl chr34:12,600,233...12,675,910

G

plasminogen activator, urokinase

severity

mRNA:increased expression:oral cavity (human)

NCBI chr 4:24,329,139...24,333,893
Ensembl chr 4:24,328,925...24,334,851

G

protein kinase, DNA-activated, catalytic subunit

CTD Direct Evidence: marker/mechanism

NCBI chr29:24,904...243,926
Ensembl chr29:35,007...243,895

G

phosphoribosyl transferase domain containing 1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:8,551,008...8,643,710
Ensembl chr 2:8,559,319...8,642,533

G

phosphatase and tensin homolog

ClinVar Annotator: match by term: Squamous cell carcinoma

NCBI chr26:37,853,148...37,913,176
Ensembl chr26:37,835,661...37,913,176

G

prostaglandin E receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr20:48,156,055...48,159,838
Ensembl chr20:48,157,973...48,159,921

G

prostaglandin-endoperoxide synthase 2

CTD Direct Evidence: marker/mechanism

PMID:16543248 PMID:18202791

NCBI chr 7:19,668,079...19,674,903
Ensembl chr 7:19,668,082...19,674,903

G

protein tyrosine kinase 2

CTD Direct Evidence: marker/mechanism|therapeutic

PMID:21401805 PMID:25199511

NCBI chr13:35,302,439...35,541,336
Ensembl chr13:35,303,380...35,541,294

G

protein tyrosine phosphatase non-receptor type 11

CTD Direct Evidence: marker/mechanism

NCBI chr26:9,989,218...10,072,245
Ensembl chr26:9,989,425...10,067,481

G

PYD and CARD domain containing

CTD Direct Evidence: marker/mechanism

NCBI chr 6:17,049,352...17,051,348
Ensembl chr 6:17,049,705...17,051,240

G

receptor for activated C kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr11:426,734...431,087
Ensembl chr11:426,215...431,089

G

RAD52 homolog, DNA repair protein

CTD Direct Evidence: marker/mechanism

NCBI chr27:42,915,334...43,032,293
Ensembl chr27:42,915,634...42,951,323

G

retinoic acid receptor beta

CTD Direct Evidence: marker/mechanism

NCBI chr23:18,207,253...18,931,128
Ensembl chr23:18,207,760...18,482,652

G

RAS p21 protein activator 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:21,068,182...21,177,288
Ensembl chr 3:21,054,930...21,176,757

G

RB transcriptional corepressor 1

ClinVar Annotator: match by term: Squamous cell carcinoma

NCBI chr22:3,061,621...3,204,625
Ensembl chr22:3,063,239...3,257,726

G

Ras and Rab interactor 3

ClinVar Annotator: match by term: Squamous cell carcinoma

NCBI chr 8:1,733,051...1,804,138
Ensembl chr 8:1,700,161...1,803,950

G

receptor interacting serine/threonine kinase 1

NCBI chr35:3,367,796...3,407,631
Ensembl chr35:3,263,226...3,405,883

G

ring finger protein 168

CTD Direct Evidence: marker/mechanism

NCBI chr33:29,542,209...29,575,127
Ensembl chr33:29,539,182...29,628,248

G

ring finger protein 6

NCBI chr25:13,199,201...13,240,347
Ensembl chr25:13,199,397...13,207,497

G

ROS proto-oncogene 1, receptor tyrosine kinase

ClinVar Annotator: match by term: Squamous cell carcinoma

NCBI chr 1:57,555,278...57,677,541
Ensembl chr 1:57,555,989...57,677,761

G

retinoid isomerohydrolase RPE65

mRNA:decreased expression:skin (human)

NCBI chr 6:76,887,399...76,911,133
Ensembl chr 6:76,887,399...76,911,131

G

SEM1 26S proteasome subunit

CTD Direct Evidence: marker/mechanism

NCBI chr14:21,767,105...21,790,229

G

serpin family A member 1

ClinVar Annotator: match by term: Squamous cell carcinoma

PMID:27296815 PMID:27993330 PMID:36367950

NCBI chr 8:63,388,498...63,400,377
Ensembl chr 8:63,376,945...63,398,435

G

stratifin

CTD Direct Evidence: marker/mechanism

NCBI chr 2:73,268,289...73,269,663
Ensembl chr 2:73,268,791...73,269,537

G

sirtuin 3

CTD Direct Evidence: marker/mechanism

NCBI chr18:25,369,183...25,388,126
Ensembl chr18:25,369,382...25,388,118

G

solute carrier family 45 member 2

CTD Direct Evidence: marker/mechanism

NCBI chr 4:73,838,684...73,868,222
Ensembl chr 4:73,815,291...73,867,437

G

superoxide dismutase 2

CTD Direct Evidence: marker/mechanism|therapeutic

PMID:12543247 PMID:15274141

NCBI chr 1:48,943,472...48,955,158
Ensembl chr 1:48,836,262...48,955,706

G

SRY-box transcription factor 2

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

PMID:19801978 PMID:23518916

NCBI chr34:14,853,000...14,855,153

G

signal transducer and activator of transcription 3

disease_progression

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

PMID:16043897 PMID:17566705 PMID:26432044

NCBI chr 9:20,539,660...20,614,631
Ensembl chr 9:20,539,697...20,612,672

G

serine/threonine kinase 11

ClinVar Annotator: match by term: Squamous cell carcinoma

NCBI chr20:57,558,966...57,579,163
Ensembl chr20:57,559,424...57,579,118

G

telomeric repeat binding factor 1

NCBI chr29:21,664,378...21,701,491
Ensembl chr29:21,664,186...21,700,495

G

tet methylcytosine dioxygenase 2

ClinVar Annotator: match by term: Squamous cell carcinoma

NCBI chr32:26,021,745...26,145,109
Ensembl chr32:26,059,693...26,143,536

G

TIAM Rac1 associated GEF 1

CTD Direct Evidence: marker/mechanism

NCBI chr31:26,058,858...26,440,059
Ensembl chr31:25,932,697...26,202,756

G

toll like receptor 4

ClinVar Annotator: match by term: Squamous cell carcinoma

NCBI chr11:71,356,390...71,367,166
Ensembl chr11:71,356,390...71,367,165

G

toll like receptor 9

invasive squamous cell carcinoma of the cervix; mRNA:increased expression:tumor:significantly increased vs normal cervical tissue (p=0.012)

NCBI chr20:37,529,322...37,547,117
Ensembl chr20:37,542,340...37,547,114
Ensembl chr20:37,542,340...37,547,114

G

TNF receptor superfamily member 1A

NCBI chr27:38,641,837...38,654,693
Ensembl chr27:38,638,753...38,700,282

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 chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109

G

tumor protein p63

CTD Direct Evidence: marker/mechanism

NCBI chr34:21,766,861...21,985,095
Ensembl chr34:21,766,496...21,983,046

G

triosephosphate isomerase 1

CTD Direct Evidence: marker/mechanism

NCBI chr27:38,154,519...38,157,900
Ensembl chr27:38,154,519...38,158,137

G

TSC complex subunit 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:51,409,307...51,459,546
Ensembl chr 9:51,425,937...51,454,677

G

TSC complex subunit 2

CTD Direct Evidence: marker/mechanism

NCBI chr 6:38,865,509...38,898,977
Ensembl chr 6:38,865,507...38,898,960

G

thymidylate synthetase

CTD Direct Evidence: marker/mechanism

NCBI chr 7:67,487,927...67,497,747
Ensembl chr 7:67,487,927...67,497,747

G

ubiquitin like modifier activating enzyme 1

CTD Direct Evidence: marker/mechanism

NCBI chr X:40,784,240...40,807,072
Ensembl chr X:40,783,809...40,807,069

G

ubiquitin like modifier activating enzyme 7

CTD Direct Evidence: marker/mechanism

NCBI chr20:39,459,981...39,468,919
Ensembl chr20:39,460,216...39,468,917

G

uridine monophosphate synthetase

CTD Direct Evidence: marker/mechanism

NCBI chr33:27,754,592...27,782,517
Ensembl chr33:27,754,643...27,782,514

G

voltage dependent anion channel 2

CTD Direct Evidence: marker/mechanism

NCBI chr 4:25,449,926...25,462,147
Ensembl chr 4:25,449,442...25,462,335

G

vitamin D receptor

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

PMID:16950800 PMID:22213323

RGD:8158063 RGD:8158080

NCBI chr27:6,852,915...6,909,466
Ensembl chr27:6,852,723...6,909,470

G

vascular endothelial growth factor A

CTD Direct Evidence: marker/mechanism

PMID:15956251 PMID:26432044

NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965

G

WW domain containing oxidoreductase

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

PMID:11956080 PMID:17575124

NCBI chr 5:72,298,254...73,243,667
Ensembl chr 5:72,299,157...73,261,406

G

XPC complex subunit, DNA damage recognition and repair factor

CTD Direct Evidence: marker/mechanism

NCBI chr20:4,299,644...4,328,826
Ensembl chr20:4,300,386...4,328,768

G

X-ray repair cross complementing 5

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

NCBI chr37:23,095,769...23,185,680
Ensembl chr37:23,095,754...23,185,586

G

X-ray repair cross complementing 6

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

NCBI chr10:23,637,905...23,661,618
Ensembl chr10:23,638,237...23,661,480

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 chr24:32,083,786...32,119,810
Ensembl chr24:32,083,931...32,111,160

G

adiponectin, C1Q and collagen domain containing

disease_progression

protein:decreased expression:serum

NCBI chr34:19,398,310...19,410,519
Ensembl chr34:19,354,825...19,409,844

G

BCL2 apoptosis regulator

protein:increased expression:tongue (human)

NCBI chr 1:13,733,849...13,900,653
Ensembl chr 1:13,731,406...13,900,658

G

baculoviral IAP repeat containing 2

exacerbates

protein:increased expression:tongue (human)

NCBI chr 5:29,294,080...29,314,837
Ensembl chr 5:29,294,692...29,312,771

G

BMP/retinoic acid inducible neural specific 3

mRNA:decreased expression:tongue:

NCBI chr38:8,181,227...8,558,518
Ensembl chr38:8,205,916...8,558,482

G

caveolin 2

protein:increased expression:mucosa of tongue

NCBI chr14:55,437,622...55,445,481
Ensembl chr14:55,437,622...55,445,469

G

cyclin D1

protein:increased expression:tongue (human)

NCBI chr18:48,501,905...48,509,684
Ensembl chr18:48,501,899...48,516,005

G

cyclin dependent kinase inhibitor 1A

disease_progression

NCBI chr12:5,746,898...5,755,103
Ensembl chr12:5,745,852...5,892,281

G

C-X-C motif chemokine ligand 8

mRNA:increased expression:head, neck (human)

NCBI chr13:62,435,035...62,438,354
Ensembl chr13:62,434,422...62,438,354

G

epidermal growth factor receptor

treatment

NCBI chr18:5,983,669...6,044,092
Ensembl chr18:5,982,770...6,042,631

G

erb-b2 receptor tyrosine kinase 3

disease_progression

NCBI chr10:406,856...424,746
Ensembl chr10:406,633...424,264

G

erb-b2 receptor tyrosine kinase 4

severity

NCBI chr37:19,029,647...20,134,576
Ensembl chr37:19,037,217...20,134,426

G

FA complementation group B

NCBI chr X:10,690,826...11,140,838
Ensembl chr X:11,095,200...11,141,029

G

FA complementation group C

NCBI chr 1:71,388,931...71,678,019
Ensembl chr 1:71,487,601...71,678,506

G

FA complementation group F

mRNA:decreased expression:tongue:

NCBI chr21:44,253,308...44,256,221
Ensembl chr21:44,255,134...44,256,618

G

FA complementation group G

NCBI chr11:51,652,939...51,659,766
Ensembl chr11:51,652,944...51,659,751

G

FA complementation group I

NCBI chr 3:52,282,955...52,357,874
Ensembl chr 3:52,282,731...52,357,226

G

FA complementation group L

NCBI chr10:58,521,480...58,637,352
Ensembl chr10:58,521,552...58,637,482

G

FA complementation group M

NCBI chr 8:22,561,862...22,625,077
Ensembl chr 8:22,562,147...22,623,994

G

Fos proto-oncogene, AP-1 transcription factor subunit

mRNA,protein:increased expression:tongue (human)

NCBI chr 8:48,330,856...48,334,273
Ensembl chr 8:48,331,026...48,333,467

G

FosB proto-oncogene, AP-1 transcription factor subunit

protein:increased expression:tongue (human)

NCBI chr 1:110,088,686...110,092,818
Ensembl chr 1:110,087,036...110,092,818

G

FOS like 1, AP-1 transcription factor subunit

protein:decreased expression:tongue (human)

NCBI chr18:51,366,719...51,374,411
Ensembl chr18:51,368,352...51,373,748

G

FOS like 2, AP-1 transcription factor subunit

mRNA,protein:increased expression:tongue (human)

NCBI chr17:22,340,469...22,364,994
Ensembl chr17:22,341,322...22,361,772

G

far upstream element binding protein 1

exacerbates

mRNA, protein:increased expression:tongue (human)

NCBI chr 6:68,923,215...68,963,766

G

gap junction protein alpha 1

protein:decreased expression:epithelium

NCBI chr 1:60,941,772...60,944,694
Ensembl chr 1:60,929,097...60,942,936

G

hepatocyte growth factor

protein:increased expression:tongue:

NCBI chr18:21,329,688...21,410,257
Ensembl chr18:21,332,817...21,410,263

G

interferon gamma

disease_progression

protein:decreased expression:serum:

NCBI chr10:10,406,866...10,411,698
Ensembl chr10:10,406,867...10,411,698

G

interleukin 10

disease_progression

protein:increased expression:serum:

NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057

G

interleukin 1 receptor like 1

disease_progression

NCBI chr10:40,658,191...40,732,097
Ensembl chr10:40,659,041...40,677,357

G

interleukin 2

protein:decreased expression:serum:

NCBI chr19:17,750,780...17,756,394
Ensembl chr19:17,750,780...17,756,394

G

interleukin 33

disease_progression

NCBI chr11:27,219,878...27,256,723
Ensembl chr11:27,219,878...27,256,721

G

Janus kinase 3

disease_progression

NCBI chr20:45,051,135...45,068,445
Ensembl chr20:45,050,526...45,072,805

G

Jun proto-oncogene, AP-1 transcription factor subunit

mRNA,protein:increased expression:tongue (human)

NCBI chr 5:50,966,698...50,968,939

G

JunB proto-oncogene, AP-1 transcription factor subunit

protein:increased expression:tongue (human)

NCBI chr20:49,358,904...49,360,746
Ensembl chr20:49,359,399...49,360,442

G

JunD proto-oncogene, AP-1 transcription factor subunit

protein:increased expression:tongue (human)

NCBI chr20:44,737,021...44,738,932
Ensembl chr20:44,736,832...44,763,020

G

kinase insert domain receptor

treatment

NCBI chr13:47,442,861...47,484,574
Ensembl chr13:47,442,764...47,485,042

G

mitogen-activated protein kinase kinase 4

mRNA:increased expression:tongue squamous epithelium (human)

NCBI chr 5:36,142,610...36,243,673
Ensembl chr 5:36,118,388...36,241,296

G

MET proto-oncogene, receptor tyrosine kinase

protein:increased expression:tongue:

NCBI chr14:55,599,047...55,711,626
Ensembl chr14:55,598,337...55,724,027

G

matrix metallopeptidase 9

protein:increased expression:tongue (human)

NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293

G

microtubule associated scaffold protein 1

disease_progression

NCBI chr16:40,955,619...41,118,601
Ensembl chr16:40,957,574...41,068,967

G

solute carrier family 1 member 5

disease_progression

NCBI chr 1:109,150,205...109,161,375
Ensembl chr 1:109,150,205...109,161,141

G

solute carrier family 3 member 2

disease_progression

NCBI chr18:53,810,468...53,819,021
Ensembl chr18:53,810,398...53,819,021

G

solute carrier family 7 member 11

severity

NCBI chr19:4,289,792...4,379,060
Ensembl chr19:4,289,850...4,389,048

G

solute carrier family 7 member 5

disease_progression

NCBI chr 5:65,313,105...65,343,858
Ensembl chr 5:65,313,105...65,343,858

G

SRY-box transcription factor 2

disease_progression

NCBI chr34:14,853,000...14,855,153

G

tumor protein p53

protein:increased expression:tongue:

NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109

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 3:62,309,128...62,318,932
Ensembl chr 3:62,303,756...62,323,896

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 chr20:40,823,683...40,849,113
Ensembl chr20:40,823,459...40,847,608

G

cell division cycle 25B

disease_progression

protein:increased expression:vulva

NCBI chr24:17,552,206...17,561,791
Ensembl chr24:17,553,316...17,561,759

G

cell division cycle 25C

disease_progression

protein:increased expression:vulva

NCBI chr11:25,904,152...25,940,754
Ensembl chr11:25,904,144...25,935,744

G

stratifin

DNA, mRNA:hypermethylation, decreased expression:vulva

NCBI chr 2:73,268,289...73,269,663
Ensembl chr 2:73,268,791...73,269,537

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 chr19:38,874,650...38,877,740
Ensembl chr19:38,874,145...38,877,740

Term paths to the root

Path 1
Term	Annotations
disease	15755
disease of cellular proliferation	7490
benign neoplasm	2148
cell type benign neoplasm	1891
squamous cell neoplasm	657
acanthoma +	4
papillary carcinoma +	12
papilloma +	66
squamous cell carcinoma +	618
verrucous carcinoma +	0

paths to the root